Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)	SNV Germline	Chr5:16477736	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2B Condition: not provided Charcot-Marie-Tooth disease Hereditary sensory and autonomic neuropathy type 2	Criteria Provided Multiple Submitters No Conflicts	CA251429	rs_137852739	9 SubmittersRCV000000356 RCV000235652 RCV000789098 RCV003447062
NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter)	SNV Germline	Chr5:16565788	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2B Condition: not provided Charcot-Marie-Tooth disease Hereditary sensory and autonomic neuropathy type 2	Criteria Provided Multiple Submitters No Conflicts	CA251432	rs_137852737	6 SubmittersRCV000000358 RCV000760442 RCV000789751 RCV003447063
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)	SNV Germline	Chr12:32598566	Pathogenic	Charcot-Marie-Tooth disease type 4H Condition: not provided Charcot-Marie-Tooth disease type 4	Criteria Provided Multiple Submitters No Conflicts	CA251667	rs_118203972	4 SubmittersRCV000001066 RCV001311296 RCV001851524
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter)	SNV Germline	Chr12:32625774	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4H	No Assertion Criteria Provided	CA251669	rs_118203973	2 SubmittersRCV000001069
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)	SNV Germline	Chr12:32602217	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA339859	rs_63749871	4 SubmittersRCV000001070 RCV000789103
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)	SNV Germline	Chr12:32601410	Pathogenic	Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4	Criteria Provided Single Submitter	CA339860	rs_118203974	4 SubmittersRCV000001071 RCV001248027
NM_001370298.3(FGD4):c.2173-2A>G	SNV Germline	Chr12:32633547	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA339862	rs_281865065	4 SubmittersRCV000001072 RCV000789105
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)	SNV Germline	Chr14:104703440	Pathogenic/Likely pathogenic	Focal segmental glomerulosclerosis 5 Condition: not provided Charcot-Marie-Tooth disease dominant intermediate E Focal segmental glomerulosclerosis 5 Kidney disorder Inborn genetic diseases Charcot-Marie-Tooth disease dominant intermediate E	Criteria Provided Multiple Submitters No Conflicts	CA114723	rs_267607183	13 SubmittersRCV000001106 RCV000681691 RCV001239762 RCV002293970 RCV003352745 RCV004814789
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)	SNV Germline	Chr14:104703439	Pathogenic/Likely pathogenic	Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease dominant intermediate E Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease dominant intermediate E	Criteria Provided Multiple Submitters No Conflicts	CA114724	rs_267606878	6 SubmittersRCV000001107 RCV001380436 RCV003987303
NM_022489.4(INF2):c.641G>A (p.Arg214His)	SNV Germline	Chr14:104703428	Pathogenic/Likely pathogenic	Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease dominant intermediate E Focal segmental glomerulosclerosis 5 Kidney disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114725	rs_267606879	6 SubmittersRCV000001108 RCV001380435 RCV002293971 RCV005639061
NM_018122.5(DARS2):c.492+2T>C	SNV Germline	Chr1:173831632	Pathogenic	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Condition: not provided Gait ataxia Gait imbalance Dysmetria 10 conditions Inborn genetic diseases Ovarian serous cystadenocarcinoma CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LL	Criteria Provided Multiple Submitters No Conflicts	CA208387	rs_142433332	22 SubmittersRCV000001117 RCV000255444 RCV000415333 RCV000626946 RCV002512635 RCV005887151 RCV006455044
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	SNV Germline	Chr15:44573652	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA249690	rs_118203963	15 SubmittersRCV000001168 RCV000202373 RCV000414837 RCV000518418 RCV002354145 RCV005007805
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)	SNV Germline	Chr15:44663530	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA249693	rs_267607084	4 SubmittersRCV000001170 RCV000202382 RCV000193032 RCV005416315
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	SNV Germline	Chr15:44584057	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA339870	rs_141848292	15 SubmittersRCV000001175 RCV000413953 RCV002345222 RCV002482813
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)	SNV Germline	Chr19:49830790	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2 Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome not specified Tip-toe gait MED25-related disorder	Criteria Provided Conflicting Classifications	CA248234	rs_145770066	16 SubmittersRCV000001387 RCV000192241 RCV000416086 RCV001082848 RCV001262290 RCV001818117 RCV002227925 RCV003924791
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)	SNV Germline	Chr17:42544027	Pathogenic	Mucopolysaccharidosis, MPS-III-B Condition: not provided Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V	Criteria Provided Multiple Submitters No Conflicts	CA115042	rs_104894590	8 SubmittersRCV000001626 RCV000078455 RCV000817080
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)	SNV Germline	Chr17:42543882	Pathogenic	Mucopolysaccharidosis, MPS-III-B Condition: not provided Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B	Criteria Provided Multiple Submitters No Conflicts	CA115043	rs_104894591	11 SubmittersRCV000001627 RCV000153533 RCV000802847
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	SNV Germline	Chr17:42541074	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-B Condition: not provided Mucopolysaccharidosis Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B Familial cancer of breast Lysosomal storage disease	Criteria Provided Multiple Submitters No Conflicts	CA115045	rs_104894592	21 SubmittersRCV000001628 RCV000485168 RCV001030805 RCV001041784 RCV005887194 RCV006252548
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)	SNV Germline	Chr17:42543934	Conflicting classifications of pathogenicity	Mucopolysaccharidosis, MPS-III-B Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V Condition: not provided	Criteria Provided Conflicting Classifications	CA250027	rs_104894593	6 SubmittersRCV000001629 RCV001227283 RCV006250231
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)	SNV Germline	Chr17:42543933	Pathogenic	Mucopolysaccharidosis, MPS-III-B Mucopolysaccharidosis Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115048	rs_104894594	10 SubmittersRCV000001631 RCV001030808 RCV001214750 RCV001579503
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	SNV Germline	Chr17:42543568	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B Mucopolysaccharidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115049	rs_104894595	12 SubmittersRCV000001632 RCV001043674 RCV001030807 RCV001729332
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)	SNV Germline	Chr17:42543699	Pathogenic	Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115050	rs_104894597	12 SubmittersRCV000001633 RCV001223228 RCV002269255
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	SNV Germline	Chr17:42543700	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-B Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V	Criteria Provided Multiple Submitters No Conflicts	CA115051	rs_104894598	6 SubmittersRCV000001634 RCV001851558
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)	SNV Germline	Chr17:42536414	Pathogenic	Mucopolysaccharidosis, MPS-III-B Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V	Criteria Provided Single Submitter	CA115052	rs_118204024	2 SubmittersRCV000001635 RCV002512655
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)	SNV Germline	Chr17:42541127	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-B Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V NAGLU-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115053	rs_118204025	5 SubmittersRCV000001636 RCV001851559 RCV003894784
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr17:42543450	Pathogenic	Mucopolysaccharidosis, MPS-III-B Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V	Criteria Provided Multiple Submitters No Conflicts	CA115054	rs_104894596	8 SubmittersRCV000001637 RCV001214384
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)	SNV Germline	Chr17:42538691	Pathogenic	Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B	Criteria Provided Multiple Submitters No Conflicts	CA115055	rs_104894601	6 SubmittersRCV000001638 RCV001203422
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	SNV Germline	Chr6:109715133	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4J Condition: not provided Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis Yunis-Varon syndrome Charcot-Marie-Tooth disease type 4J Yunis-Varon syndrome Bilateral parasagittal parieto-occipital polymicrogyria Inborn genetic diseases FIG4-related disorder Charcot-Marie-Tooth disease type 4J Yunis-Varon syndrome Bilateral parasagittal parieto-occipital polymicrogyria Amyotrophic lateral sclerosis type 11	Criteria Provided Multiple Submitters No Conflicts	CA233088	rs_121908287	40 SubmittersRCV000001791 RCV000143812 RCV000416487 RCV000476702 RCV001095515 RCV001270162 RCV001535566 RCV001330564 RCV002362551 RCV003952336 RCV005394105
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)	SNV Germline	Chr6:109735199	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Condition: not provided Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis FIG4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA251931	rs_121908288	8 SubmittersRCV000001796 RCV000001793 RCV000235305 RCV001046714 RCV001095516 RCV003944790
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	SNV Germline	Chr1:11992660	Pathogenic	Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 Condition: not provided Charcot-Marie-Tooth disease Neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252142	rs_28940291	13 SubmittersRCV000002356 RCV000463055 RCV000286431 RCV000857091 RCV003332993 RCV003332992 RCV003343597
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	SNV Germline	Chr1:12011510	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 Condition: not provided Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease not specified Inborn genetic diseases MFN2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252145	rs_28940292	14 SubmittersRCV000002357 RCV000197403 RCV000235811 RCV000763240 RCV000857112 RCV001001747 RCV002426480 RCV002444413
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)	SNV Germline	Chr1:11992606	Pathogenic	Charcot-Marie-Tooth disease type 2A2 Condition: not provided Charcot-Marie-Tooth disease type 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252148	rs_28940293	8 SubmittersRCV000002358 RCV000200837 RCV000653847 RCV006362011
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	SNV Germline	Chr1:12001423	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2A2 Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease type 2A2 Neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b	Criteria Provided Multiple Submitters No Conflicts	CA252151	rs_28940294	16 SubmittersRCV000002359 RCV000236600 RCV000549934 RCV000789418 RCV002468552 RCV005409593 RCV006439558
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)	SNV Germline	Chr1:11999030	Pathogenic	Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA252154	rs_28940295	3 SubmittersRCV000002360 RCV000789417
NM_014874.4(MFN2):c.205G>T (p.Val69Phe)	SNV Germline	Chr1:11992584	Pathogenic	Charcot-Marie-Tooth disease type 2A2	No Assertion Criteria Provided	CA252157	rs_28940296	1 SubmittersRCV000002361
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)	SNV Germline	Chr1:12002014	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252160	rs_119103261	3 SubmittersRCV000002362 RCV000547064 RCV005003317
NM_014874.4(MFN2):c.493C>G (p.His165Asp)	SNV Germline	Chr1:11997315	Pathogenic	Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA252163	rs_119103262	3 SubmittersRCV000002363 RCV000789416 RCV001208639
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	SNV Germline	Chr1:11992659	Pathogenic	Charcot-Marie-Tooth disease type 2A2 Hereditary motor and sensory neuropathy with optic atrophy Condition: not provided Charcot-Marie-Tooth disease type 2 14 conditions Charcot-Marie-Tooth disease Inborn genetic diseases Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Neuropathy, hereditary motor and sensory, type 6A	Criteria Provided Multiple Submitters No Conflicts	CA204307	rs_119103263	18 SubmittersRCV000002364 RCV000190245 RCV000200468 RCV000199279 RCV000415132 RCV001173686 RCV003162206 RCV004558234 RCV004558235
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)	SNV Germline	Chr1:12001411	Conflicting classifications of pathogenicity	Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease type 2A2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA115466	rs_119103264	4 SubmittersRCV000002366 RCV001253214 RCV002426481 RCV003482223
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)	SNV Germline	Chr1:12002033	Pathogenic	Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease type 2A2 Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4	Criteria Provided Multiple Submitters No Conflicts	CA115469	rs_119103265	15 SubmittersRCV000002367 RCV000023711 RCV000198024 RCV000195560 RCV000857103 RCV000857104
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile)	SNV Germline	Chr1:11998787	Pathogenic	Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA115472	rs_119103266	4 SubmittersRCV000002368 RCV000857095 RCV001268502 RCV006461087
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	SNV Germline	Chr1:12009641	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Condition: not provided Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 Inborn genetic diseases MFN2-related disorder Charcot-Marie-Tooth disease Peripheral axonal neuropathy Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Neuropathy, hereditary motor and sensory, type 6A Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease, type 2A Multiple symmetric lipomatosis Tip-toe gait Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Neuropathy, hereditary motor and sensory, type 6A Semidominant MFN2-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA252166	rs_119103267	30 SubmittersRCV000002369 RCV000199654 RCV000239892 RCV000472857 RCV000624830 RCV000778183 RCV001173687 RCV001775061 RCV002285136 RCV002247240 RCV002508915 RCV003231070 RCV003319157 RCV002476912 RCV006633880
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	SNV Germline	Chr1:11992689	Pathogenic	Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease dominant intermediate B	Criteria Provided Multiple Submitters No Conflicts	CA115475	rs_119103268	17 SubmittersRCV000002370 RCV000002371 RCV000144872 RCV000197230 RCV000556047 RCV000515385 RCV001267430 RCV003332994 RCV003332995 RCV005644469
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	SNV Germline	Chr1:12004835	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2A2 not specified Hereditary motor and sensory neuropathy with optic atrophy Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Tip-toe gait Inborn genetic diseases Optic atrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA252169	rs_138382758	15 SubmittersRCV000002372 RCV000196650 RCV000312138 RCV000487518 RCV001172693 RCV001086652 RCV001814957 RCV002390086 RCV004814804 RCV004814803
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)	SNV Germline	Chr5:149028146	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Condition: not provided Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA339983	rs_80338923	8 SubmittersRCV000002582 RCV000998463 RCV000857152
NM_024577.4(SH3TC2):c.530-2A>G	SNV Germline	Chr5:149041619	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA339987	rs_80338920	3 SubmittersRCV000002584 RCV000790209
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)	SNV Germline	Chr5:149026903	Pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339988	rs_80338932	7 SubmittersRCV000002585 RCV001223054 RCV001310527
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	SNV Germline	Chr5:149026872	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Condition: not provided SH3TC2-related disorder Inborn genetic diseases Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts	CA115573	rs_80338933	43 SubmittersRCV000002586 RCV000002587 RCV000168436 RCV000144877 RCV000255213 RCV000282937 RCV000622836 RCV000515338 RCV001851586
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	SNV Germline	Chr5:149010272	Pathogenic	Charcot-Marie-Tooth disease type 4C Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA339991	rs_80338934	21 SubmittersRCV000002588 RCV000218266 RCV000654100 RCV000857137 RCV002496231
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)	SNV Germline	Chr5:149042718	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C 7 conditions Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease not specified Tip-toe gait Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA115576	rs_80359890	21 SubmittersRCV000002591 RCV000002590 RCV000415264 RCV000656975 RCV001079620 RCV001172848 RCV001705579 RCV001293355 RCV002345223
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu)	SNV Germline	Chr12:119187078	Pathogenic	Neuronopathy, distal hereditary motor, type 2A Charcot-Marie-Tooth disease axonal type 2L Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115644	rs_104894351	6 SubmittersRCV000002736 RCV001216811 RCV001532719
NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)	SNV Germline	Chr12:119187080	Pathogenic	Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Single Submitter	CA252366	rs_104894345	3 SubmittersRCV000002737 RCV000192250 RCV002472922
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter)	SNV Germline	Chr11:9847015	Pathogenic	Charcot-Marie-Tooth disease type 4B2	No Assertion Criteria Provided	CA115862	rs_120074137	1 SubmittersRCV004700180
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)	SNV Germline	Chr11:9832290	Pathogenic	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B2	Criteria Provided Single Submitter	CA115865	rs_120074138	2 SubmittersRCV001045497 RCV004700181
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)	SNV Germline	Chr11:9968482	Pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease type 4B2	Criteria Provided Multiple Submitters No Conflicts	CA115868	rs_120074139	5 SubmittersRCV000790190 RCV001055475 RCV003231071 RCV004700182
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)	SNV Germline	Chr8:74350553	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4A	No Assertion Criteria Provided	CA116681	rs_121908112	2 SubmittersRCV000004409
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)	SNV Germline	Chr8:74362940	Pathogenic	Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Condition: not provided Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease axonal type 2K	Criteria Provided Multiple Submitters No Conflicts	CA116683	rs_104894075	8 SubmittersRCV000004410 RCV000004411 RCV000023562 RCV000760312 RCV002496253
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)	SNV Germline	Chr8:74360308	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116685	rs_104894076	4 SubmittersRCV000004412 RCV001200307
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)	SNV Germline	Chr8:74361886	Pathogenic	Neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease type 4A Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease recessive intermediate A	Criteria Provided Multiple Submitters No Conflicts	CA116686	rs_104894077	15 SubmittersRCV000004413 RCV000031963 RCV000204463 RCV000236485 RCV000857207 RCV000763605 RCV005055503 RCV005862698
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)	SNV Germline	Chr8:74364134	Pathogenic	Charcot-Marie-Tooth disease recessive intermediate A Condition: not provided Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease axonal type 2K	Criteria Provided Multiple Submitters No Conflicts	CA116688	rs_28937906	6 SubmittersRCV000004415 RCV000235864 RCV001235354 RCV002504741
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)	SNV Germline	Chr8:74360184	Pathogenic	Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease type 4A Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA339359	rs_104894078	22 SubmittersRCV000004418 RCV000200521 RCV000192249 RCV000236074 RCV001225306 RCV001535613 RCV002453246
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)	SNV Germline	Chr8:74360295	Pathogenic	Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA253038	rs_104894079	4 SubmittersRCV000004419 RCV000798174 RCV001533514
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	SNV Germline	Chr8:74364005	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 4A Condition: not provided Elevated circulating alkaline phosphatase concentration Polyneuropathy Peripheral axonal neuropathy Elevated circulating creatine kinase concentration Sensory neuropathy GDAP1-related disorder Charcot-Marie-Tooth disease Inborn genetic diseases Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease axonal type 2K	Criteria Provided Multiple Submitters No Conflicts	CA116689	rs_104894080	17 SubmittersRCV000004420 RCV000033147 RCV000034153 RCV000439841 RCV000414821 RCV000779562 RCV000789780 RCV002362562 RCV002496254
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu)	SNV Germline	Chr8:74363011	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 4A	No Assertion Criteria Provided	CA253040	rs_121908113	2 SubmittersRCV000004421 RCV003447065
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)	SNV Germline	Chr8:74363051	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2K Condition: not provided Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease Inborn genetic diseases Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA253042	rs_121908114	10 SubmittersRCV000004422 RCV000214299 RCV000703370 RCV000857208 RCV002362563 RCV005041980
NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr)	SNV Germline	Chr8:74364009	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2K Autosomal dominant Charcot-Marie-Tooth disease type 2K	No Assertion Criteria Provided	CA253044	rs_121908115	2 SubmittersRCV000004423 RCV003447066
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser)	SNV Germline	Chr8:74363037	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2K Autosomal dominant Charcot-Marie-Tooth disease type 2K	No Assertion Criteria Provided	CA253046	rs_267606842	2 SubmittersRCV000004424 RCV003447067
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)	SNV Germline	Chr11:62692413	Pathogenic	Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Berardinelli-Seip congenital lipodystrophy Severe neurodegenerative syndrome with lipodystrophy Congenital generalized lipodystrophy type 2 Neuronopathy, distal hereditary motor, type 5C Hereditary spastic paraplegia 17	Criteria Provided Multiple Submitters No Conflicts	CA277926	rs_137852971	5 SubmittersRCV000004797 RCV003581554 RCV003311642 RCV005049316
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	SNV Germline	Chr11:62702493	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 17 Condition: not provided Charcot-Marie-Tooth disease type 2 Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5A Neuronopathy, distal hereditary motor, type 5C Abnormal central motor function BSCL2-related disorder Berardinelli-Seip congenital lipodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116912	rs_137852973	13 SubmittersRCV000004803 RCV000235980 RCV000547334 RCV000755016 RCV001270681 RCV001813950 RCV004766979 RCV003311647
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)	SNV Germline	Chr11:62692671	Pathogenic	Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Berardinelli-Seip congenital lipodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277936	rs_137852975	4 SubmittersRCV000004805 RCV000196081 RCV003311649
NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu)	SNV Germline	Chr1:10258602	Pathogenic	Charcot-Marie-Tooth disease type 2A1	No Assertion Criteria Provided	CA253243	rs_121908160	1 SubmittersRCV000004921
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)	SNV Germline	Chr1:10324838	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 1 Charcot-Marie-Tooth disease type 2 Neuroblastoma Malignant tumor of breast Charcot-Marie-Tooth disease Condition: not provided KIF1B-related disorder not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA116990	rs_121908162	10 SubmittersRCV000004923 RCV000198737 RCV001098679 RCV001269366 RCV001173590 RCV003237410 RCV004742212 RCV004018562 RCV005394118
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)	SNV Germline	Chr1:10345943	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 1 Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA116993	rs_121908163	4 SubmittersRCV000004924 RCV000490400 RCV000865916 RCV004018563
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)	SNV Germline	Chr19:40395495	Pathogenic	Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease type 4F Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease PRX-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117076	rs_104894714	8 SubmittersRCV000005053 RCV000201141 RCV000236836 RCV000458979 RCV001172752 RCV004751202
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)	SNV Germline	Chr19:40397250	Pathogenic/Likely pathogenic	Autosomal recessive Dejerine-Sottas syndrome Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Peripheral neuropathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA117079	rs_104894715	8 SubmittersRCV000005055 RCV000760443 RCV000688310 RCV001353155 RCV001813951 RCV002453248
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)	SNV Germline	Chr19:40397766	Pathogenic	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117082	rs_104894706	4 SubmittersRCV000005057 RCV000789537 RCV001222897 RCV001781189
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)	SNV Germline	Chr19:40396207	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA343107	rs_104894707	11 SubmittersRCV000032004 RCV000474032 RCV000760319 RCV001172756 RCV002426489
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	SNV Germline	Chr19:40395144	Pathogenic/Likely pathogenic	Dejerine-Sottas disease Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4	Criteria Provided Multiple Submitters No Conflicts	CA117085	rs_104894708	7 SubmittersRCV000005061 RCV000032006 RCV000701391
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)	SNV Germline	Chr9:92080045	Pathogenic	Hereditary sensory and autonomic neuropathy type 1 Neuropathy, hereditary sensory and autonomic, type 1A Charcot-Marie-Tooth disease Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340286	rs_119482081	8 SubmittersRCV000005067 RCV001249800 RCV001027483 RCV002512792 RCV004998075
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)	SNV Germline	Chr9:92068095	Pathogenic/Likely pathogenic	Hereditary sensory and autonomic neuropathy type 1 Condition: not provided Charcot-Marie-Tooth disease Neuropathy, hereditary sensory and autonomic, type 1A Inborn genetic diseases SPTLC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340288	rs_119482083	11 SubmittersRCV000005068 RCV000235837 RCV001174070 RCV001249799 RCV002326664 RCV004755711
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)	SNV Germline	Chr9:92080044	Pathogenic	Hereditary sensory and autonomic neuropathy type 1 Charcot-Marie-Tooth disease Sensorimotor neuropathy Neuropathy, hereditary sensory and autonomic, type 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340293	rs_119482082	6 SubmittersRCV000005070 RCV001174071 RCV001004021 RCV001249798 RCV004597725
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)	SNV Germline	Chr12:109792407	Pathogenic	Brachyrachia (short spine dysplasia) Skeletal dysplasia Condition: not provided Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Multiple Submitters No Conflicts	CA117164	rs_121912632	4 SubmittersRCV000005280 RCV000202519 RCV001269634 RCV003505079
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)	SNV Germline	Chr12:109792396	Pathogenic/Likely pathogenic	Brachyrachia (short spine dysplasia) Skeletal dysplasia Neuromuscular disease Skeletal dysplasia Charcot-Marie-Tooth disease axonal type 2C Condition: not provided Charcot-Marie-Tooth disease Metatropic dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA117166	rs_121912633	8 SubmittersRCV000005281 RCV000202464 RCV000202535 RCV000545248 RCV000728663 RCV001172890 RCV003992145
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)	SNV Germline	Chr12:109792695	Pathogenic/Likely pathogenic	Spondylometaphyseal dysplasia, Kozlowski type Parastremmatic dwarfism Neuromuscular disease Skeletal dysplasia Condition: not provided Charcot-Marie-Tooth disease axonal type 2C Metatropic dysplasia Inborn genetic diseases Neuronopathy, distal hereditary motor, autosomal dominant 8 Multiple epiphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA117168	rs_77975504	15 SubmittersRCV000005282 RCV000005283 RCV000202560 RCV000498625 RCV000691603 RCV001618207 RCV002512802 RCV002243623 RCV005624676
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)	SNV Germline	Chr12:109784378	Pathogenic	Spondyloepimetaphyseal dysplasia, Maroteaux type Metatropic dysplasia Skeletal dysplasia Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2C Parastremmatic dwarfism Condition: not provided Spondylometaphyseal dysplasia, Kozlowski type TRPV4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117176	rs_121912637	14 SubmittersRCV000005288 RCV000005287 RCV000202554 RCV000624630 RCV000707315 RCV001253672 RCV001311314 RCV003388565 RCV005867724
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	SNV Germline	Chr12:109798823	Pathogenic/Likely pathogenic	Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease axonal type 2C Neuronopathy, distal hereditary motor, autosomal dominant 8 Condition: not provided Neuromuscular disease Neuronopathy, distal hereditary motor, autosomal dominant Inborn genetic diseases TRPV4-Associated Disorders TRPV4-related disorder Scapuloperoneal spinal muscular atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8	Criteria Provided Multiple Submitters No Conflicts	CA117178	rs_267607143	15 SubmittersRCV000005290 RCV000005291 RCV000005289 RCV000236487 RCV000202514 RCV000789585 RCV002371762 RCV003335013 RCV004547459 RCV005409595
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	SNV Germline	Chr12:109800665	Pathogenic/Likely pathogenic	Neuronopathy, distal hereditary motor, autosomal dominant 8 Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease Neuromuscular disease Condition: not provided Inborn genetic diseases 11 conditions TRPV4-related bone disorder	Criteria Provided Multiple Submitters No Conflicts	CA117180	rs_267607144	17 SubmittersRCV000005292 RCV000005293 RCV000192243 RCV000202467 RCV000235740 RCV000623703 RCV000763296 RCV003320352
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)	SNV Germline	Chr12:109798820	Pathogenic	Charcot-Marie-Tooth disease axonal type 2C Scapuloperoneal spinal muscular atrophy Condition: not provided Neuromuscular disease Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, autosomal dominant TRPV4-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA117182	rs_267607145	9 SubmittersRCV000005294 RCV000005295 RCV000236285 RCV000202561 RCV000192245 RCV000789587 RCV001796956 RCV002371763
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)	SNV Germline	Chr12:109800666	Pathogenic	Charcot-Marie-Tooth disease axonal type 2C Scapuloperoneal spinal muscular atrophy Neuromuscular disease Neuronopathy, distal hereditary motor, autosomal dominant 8 Condition: not provided Hereditary motor neuron disease Distal spinal muscular atrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA130778	rs_267607146	10 SubmittersRCV000005296 RCV000033215 RCV000202537 RCV000190885 RCV000517563 RCV001027476 RCV000856933 RCV002415400
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)	SNV Germline	Chr8:133258374	Pathogenic	Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340338	rs_119483085	11 SubmittersRCV000005427 RCV000469692 RCV001092150
NM_006096.4(NDRG1):c.538-1G>A	SNV Germline	Chr8:133254596	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA186375958	rs_11575976	2 SubmittersRCV000005428 RCV000790135
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter)	SNV Germline	Chr15:34236719	Pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided See cases Agenesis of the corpus callosum with peripheral neuropathy Charcot-Marie-Tooth disease, axonal, IIa 2II	Criteria Provided Multiple Submitters No Conflicts	CA340397	rs_121908427	11 SubmittersRCV000005652 RCV001045170 RCV002251882 RCV005007826
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)	SNV Germline	Chr15:34257713	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA253467	rs_121908429	7 SubmittersRCV000005657 RCV000790223 RCV002512812
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)	SNV Germline	Chr16:11553576	Pathogenic	Charcot-Marie-Tooth disease type 1C Condition: not provided Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA340507	rs_104894519	14 SubmittersRCV000006429 RCV000235719 RCV001173620 RCV002321474
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)	SNV Germline	Chr16:11553566	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340511	rs_104894520	5 SubmittersRCV000006430 RCV000991836
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)	SNV Germline	Chr16:11553564	Pathogenic	Charcot-Marie-Tooth disease type 1C	Criteria Provided Single Submitter	CA340515	rs_104894521	3 SubmittersRCV000006431
NM_001136472.2(LITAF):c.364C>G (p.Leu122Val)	SNV Germline	Chr16:11553546	Pathogenic	Charcot-Marie-Tooth disease type 1C	No Assertion Criteria Provided	CA253743	rs_104894522	1 SubmittersRCV000006432
NM_003640.5(ELP1):c.2204+6T>C	SNV Germline	Chr9:108899816	Pathogenic	Familial dysautonomia Condition: not provided Charcot-Marie-Tooth disease not specified Medulloblastoma Primary dysautonomia Ovarian serous cystadenocarcinoma Familial dysautonomia Medulloblastoma Sarcoma	Criteria Provided Multiple Submitters No Conflicts	CA284834	rs_111033171	23 SubmittersRCV000006458 RCV000058928 RCV000789357 RCV004018577 RCV003444194 RCV005357084 RCV005887326 RCV005041994 RCV005887325
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	SNV Germline	Chr9:108900303	Pathogenic/Likely pathogenic	Familial dysautonomia Charcot-Marie-Tooth disease Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA253767	rs_137853022	9 SubmittersRCV000006459 RCV000789660 RCV001380395 RCV002482833
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)	SNV Germline	Chr9:108894062	Likely pathogenic	Familial dysautonomia Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA253769	rs_28939712	3 SubmittersRCV000006460 RCV000789661
NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)	SNV Germline	Chr1:32810994	Pathogenic	Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA118052	rs_121908833	3 SubmittersRCV000006565 RCV000789620
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)	SNV Germline	Chr1:32797768	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	Criteria Provided Multiple Submitters No Conflicts	CA118054	rs_121908834	5 SubmittersRCV000006566 RCV000789621 RCV003328123
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)	SNV Germline	Chr11:95845063	Pathogenic	Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4	Criteria Provided Single Submitter	CA253823	rs_121434402	2 SubmittersRCV000006609 RCV000814403
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)	SNV Germline	Chr11:95849841	Pathogenic	Charcot-Marie-Tooth disease type 4B1	Criteria Provided Single Submitter	CA340529	rs_121434403	3 SubmittersRCV000006611
NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter)	SNV Germline	Chr11:95841652	Pathogenic	Charcot-Marie-Tooth disease type 4B1	No Assertion Criteria Provided	CA253826	rs_121434404	1 SubmittersRCV000006612
NM_001005361.3(DNM2):c.1684A>G (p.Lys562Glu)	SNV Germline	Chr19:10819992	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease dominant intermediate B	No Assertion Criteria Provided	CA118652	rs_121909088	3 SubmittersRCV000007700 RCV000789618 RCV003447076
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	SNV Germline	Chr19:10793833	Pathogenic	Autosomal dominant centronuclear myopathy Centronuclear myopathy Charcot-Marie-Tooth disease dominant intermediate B Condition: not provided	Reviewed By Expert Panel	CA118655	rs_121909089	9 SubmittersRCV000007702 RCV000145900 RCV000701394 RCV001781202
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	SNV Germline	Chr19:10793832	Pathogenic	Autosomal dominant centronuclear myopathy Centronuclear myopathy Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease Condition: not provided Limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA118658	rs_121909090	11 SubmittersRCV000007703 RCV000145899 RCV000641108 RCV001027496 RCV001537068 RCV005624680
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	SNV Germline	Chr19:10798543	Pathogenic	Autosomal dominant centronuclear myopathy Centronuclear myopathy Condition: not provided Charcot-Marie-Tooth disease dominant intermediate B Abnormality of the musculature DNM2-related disorder	Reviewed By Expert Panel	CA172098	rs_121909091	18 SubmittersRCV000007704 RCV000145902 RCV000373773 RCV000641110 RCV001813964 RCV004745149
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	SNV Germline	Chr19:10793829	Pathogenic	Autosomal dominant centronuclear myopathy Centronuclear myopathy Myopathy Charcot-Marie-Tooth disease dominant intermediate B Condition: not provided DNM2-related disorder	Reviewed By Expert Panel	CA118661	rs_121909092	14 SubmittersRCV000007705 RCV000145898 RCV000626717 RCV000554046 RCV000725988 RCV003914819
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)	SNV Germline	Chr19:10812315	Conflicting classifications of pathogenicity	Autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease dominant intermediate B	No Assertion Criteria Provided	CA118664	rs_121909093	3 SubmittersRCV000007706 RCV000789617 RCV003447077
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)	SNV Germline	Chr19:10820017	Conflicting classifications of pathogenicity	Autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease dominant intermediate B	No Assertion Criteria Provided	CA118667	rs_121909094	3 SubmittersRCV000007707 RCV000789619 RCV003447078
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	SNV Germline	Chr19:10823862	Pathogenic	Severe X-linked myotubular myopathy Centronuclear myopathy Charcot-Marie-Tooth disease dominant intermediate B Condition: not provided Autosomal dominant centronuclear myopathy Autosomal dominant centronuclear myopathy Charcot-Marie-Tooth disease dominant intermediate B Fetal akinesia-cerebral and retinal hemorrhage syndrome	Reviewed By Expert Panel	CA172110	rs_121909095	11 SubmittersRCV000007708 RCV000145908 RCV000544279 RCV000656268 RCV000754751 RCV002504764
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)	SNV Germline	Chr19:10823862	Pathogenic	Severe X-linked myotubular myopathy Charcot-Marie-Tooth disease dominant intermediate B Condition: not provided	Criteria Provided Single Submitter	CA254140	rs_121909095	3 SubmittersRCV000007709 RCV003447079 RCV003441708
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)	SNV Germline	Chr19:10793799	Pathogenic/Likely pathogenic	Autosomal dominant Charcot-Marie-Tooth disease type 2M Condition: not provided Charcot-Marie-Tooth disease dominant intermediate B	Criteria Provided Multiple Submitters No Conflicts	CA248603	rs_267606772	6 SubmittersRCV000007710 RCV000369987 RCV000203266
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)	SNV Germline	Chr3:128806576	Pathogenic	Charcot-Marie-Tooth disease type 2B Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA219656	rs_121909078	5 SubmittersRCV000007770 RCV000059221 RCV000789555
NM_004637.6(RAB7A):c.484G>A (p.Val162Met)	SNV Germline	Chr3:128807627	Pathogenic	Charcot-Marie-Tooth disease type 2B Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA219662	rs_121909079	5 SubmittersRCV000007771 RCV000059224 RCV000789554
NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr)	SNV Germline	Chr3:128807625	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B Condition: not provided Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA219660	rs_121909080	5 SubmittersRCV000007772 RCV000059223 RCV000789552 RCV006362016
NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn)	SNV Germline	Chr3:128807614	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B Condition: not provided Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA219658	rs_121909081	3 SubmittersRCV000007773 RCV000059222 RCV000789553
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)	SNV Germline	Chr7:76303841	Pathogenic	Neuronopathy, distal hereditary motor, type 2B Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118820	rs_28939680	5 SubmittersRCV000007905 RCV000007904 RCV000789332 RCV003482225
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)	SNV Germline	Chr7:76303816	Pathogenic	Neuronopathy, distal hereditary motor, type 2B Charcot-Marie-Tooth disease axonal type 2F Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA118822	rs_29001571	8 SubmittersRCV000007906 RCV000007907 RCV000489743 RCV002354152
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)	SNV Germline	Chr7:76304007	Pathogenic/Likely pathogenic	Neuronopathy, distal hereditary motor, type 2B Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118824	rs_28937568	5 SubmittersRCV000007908 RCV000809687 RCV001174177 RCV001815164
NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu)	SNV Germline	Chr7:76304100	Pathogenic	Neuronopathy, distal hereditary motor, type 2B Charcot-Marie-Tooth disease axonal type 2F	Criteria Provided Single Submitter	CA118826	rs_28937569	2 SubmittersRCV000007909 RCV005089204
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)	SNV Germline	Chr7:76303843	Pathogenic	Charcot-Marie-Tooth disease axonal type 2F	Criteria Provided Single Submitter	CA254190	rs_28939681	2 SubmittersRCV000007910
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)	SNV Germline	Chr7:76304099	Pathogenic/Likely pathogenic	Neuronopathy, distal hereditary motor, type 2B Charcot-Marie-Tooth disease axonal type 2F	Criteria Provided Multiple Submitters No Conflicts	CA118828	rs_104894020	4 SubmittersRCV000007911 RCV000809907
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	SNV Germline	Chr7:76303855	Pathogenic	Neuronopathy, distal hereditary motor, type 2B Charcot-Marie-Tooth disease axonal type 2F Condition: not provided Charcot-Marie-Tooth disease HSPB1-related axonal neuropathies Inborn genetic diseases Neuronopathy, distal hereditary motor, type 2B Charcot-Marie-Tooth disease axonal type 2F	Criteria Provided Multiple Submitters No Conflicts	CA118831	rs_121909112	12 SubmittersRCV000007912 RCV000688660 RCV001508210 RCV001174175 RCV001794438 RCV002326670 RCV005042012
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)	SNV Germline	Chr20:10658612	Pathogenic	Alagille syndrome due to a JAG1 point mutation Condition: not provided JAG1-related disorder Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Multiple Submitters No Conflicts	CA254222	rs_121918350	7 SubmittersRCV000008058 RCV000729764 RCV004739294 RCV005031418
NM_000214.3(JAG1):c.551G>A (p.Arg184His)	SNV Germline	Chr20:10658611	Pathogenic	Alagille syndrome due to a JAG1 point mutation Condition: not provided Arteriohepatic dysplasia Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Multiple Submitters No Conflicts	CA254223	rs_121918351	8 SubmittersRCV000008059 RCV000725979 RCV005002140 RCV002476943
NM_005548.3(KARS1):c.314T>A (p.Leu105His)	SNV Germline	Chr16:75640258	Pathogenic	Charcot-Marie-Tooth disease recessive intermediate B	No Assertion Criteria Provided	CA119343	rs_267607194	1 SubmittersRCV000008647
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	SNV Germline	Chr2:74366896	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis, susceptibility to Charcot-Marie-Tooth disease Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided Inborn genetic diseases DCTN1-related disorder not specified	Criteria Provided Conflicting Classifications	CA119587	rs_121909344	14 SubmittersRCV000008912 RCV000144867 RCV000644476 RCV000986781 RCV001140673 RCV001140674 RCV001572734 RCV002444424 RCV003952351 RCV006268074
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)	SNV Germline	Chr17:15260681	Pathogenic	Charcot-Marie-Tooth disease, type IA Charcot-Marie-Tooth disease, type I	Criteria Provided Single Submitter	CA340784	rs_104894617	3 SubmittersRCV000008940 RCV000685070
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)	SNV Germline	Chr17:15239554	Pathogenic	Charcot-Marie-Tooth disease, type IA Charcot-Marie-Tooth disease, type I	Criteria Provided Single Submitter	CA254385	rs_104894618	2 SubmittersRCV000008941 RCV002512923
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	SNV Germline	Chr17:15231047	Conflicting classifications of pathogenicity	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type 1a, autosomal recessive Charcot-Marie-Tooth disease, type IA not specified Charcot-Marie-Tooth disease, type I Condition: not provided Charcot-Marie-Tooth disease Tip-toe gait Charcot-Marie-Tooth disease type 1E 6 conditions	Criteria Provided Conflicting Classifications	CA119616	rs_104894619	22 SubmittersRCV000008946 RCV000008945 RCV000032119 RCV000194789 RCV000197572 RCV000224441 RCV001027473 RCV001507314 RCV005862500 RCV005394144
NM_000304.4(PMP22):c.206T>A (p.Met69Lys)	SNV Germline	Chr17:15239584	Pathogenic	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT Condition: not provided Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease, type IA	Criteria Provided Multiple Submitters No Conflicts	CA119618	rs_104894620	4 SubmittersRCV000008947 RCV000494533 RCV001380437 RCV003338380
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)	SNV Germline	Chr17:15239575	Pathogenic	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT Charcot-Marie-Tooth disease, type I Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease, type IA PMP22-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119620	rs_104894621	8 SubmittersRCV000008948 RCV000456500 RCV000489163 RCV000622525 RCV001729342 RCV005867733
NM_000304.4(PMP22):c.36C>A (p.His12Gln)	SNV Germline	Chr17:15260692	Pathogenic/Likely pathogenic	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT Charcot-Marie-Tooth disease, type I Inborn genetic diseases Dejerine-Sottas disease Roussy-Lévy syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119622	rs_104894622	6 SubmittersRCV000008949 RCV000168060 RCV000622783 RCV000790177 RCV001195890 RCV006436382
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)	SNV Germline	Chr17:15239591	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1E Condition: not provided Charcot-Marie-Tooth disease, type I	Criteria Provided Multiple Submitters No Conflicts	CA340786	rs_104894623	4 SubmittersRCV000008951 RCV000992662 RCV001047019
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)	SNV Germline	Chr17:15230952	Conflicting classifications of pathogenicity	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT Condition: not provided Charcot-Marie-Tooth disease, type I	Criteria Provided Conflicting Classifications	CA119624	rs_104894624	3 SubmittersRCV000008954 RCV000594940 RCV001221866
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)	SNV Germline	Chr17:15259190	Likely pathogenic	Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease, type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342724	rs_104894626	4 SubmittersRCV000023072 RCV002512924 RCV004700206
NM_000304.4(PMP22):c.110A>T (p.Asp37Val)	SNV Germline	Chr17:15259162	Pathogenic	Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths	No Assertion Criteria Provided	CA119626	rs_104894627	1 SubmittersRCV000008955
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	SNV Germline	Chr17:15239591	Conflicting classifications of pathogenicity	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type IA Charcot-Marie-Tooth disease, type I Condition: not provided	Criteria Provided Conflicting Classifications	CA254388	rs_104894623	5 SubmittersRCV000008956 RCV001173915 RCV002288476 RCV003581556 RCV005641492
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	SNV Germline	Chr17:15230931	Pathogenic/Likely pathogenic	Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease, type I Hereditary liability to pressure palsies Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA119628	rs_28936682	6 SubmittersRCV000008957 RCV000193053 RCV001229968 RCV001332355 RCV001173916
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	SNV Germline	Chr17:15260663	Pathogenic	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type IA	No Assertion Criteria Provided	CA254390	rs_104894625	2 SubmittersRCV000008958 RCV000008959
NM_001605.3(AARS1):c.986G>A (p.Arg329His)	SNV Germline	Chr16:70268356	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Condition: not provided AARS1-related disorder Hereditary neuropathy or pain disorder	Criteria Provided Multiple Submitters No Conflicts	CA254396	rs_267606621	15 SubmittersRCV000008987 RCV000192253 RCV000168406 RCV001269580 RCV004730838 RCV006629054
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)	SNV Germline	Chr9:35065255	Pathogenic/Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Charcot-Marie-Tooth disease type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	Criteria Provided Multiple Submitters No Conflicts	CA254406	rs_121909334	13 SubmittersRCV000008994 RCV000023064 RCV000516636 RCV000555373 RCV002496309
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)	SNV Germline	Chr11:68934466	Pathogenic	Condition: not provided Autosomal recessive distal spinal muscular atrophy 1 Autosomal recessive distal spinal muscular atrophy 1 Charcot-Marie-Tooth disease axonal type 2S Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2S	Criteria Provided Multiple Submitters No Conflicts	CA254642	rs_137852665	7 SubmittersRCV000235520 RCV000235071 RCV000693255 RCV004018607 RCV004799738
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)	SNV Germline	Chr11:68911530	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2S Autosomal recessive distal spinal muscular atrophy 1 Condition: not provided Autosomal recessive distal spinal muscular atrophy 1 Charcot-Marie-Tooth disease axonal type 2S	Criteria Provided Multiple Submitters No Conflicts	CA254644	rs_137852666	6 SubmittersRCV000664227 RCV001095539 RCV003488333 RCV003764541
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)	SNV Germline	Chr11:68935404	Pathogenic/Likely pathogenic	Autosomal recessive distal spinal muscular atrophy 1 Charcot-Marie-Tooth disease axonal type 2S Autosomal recessive distal spinal muscular atrophy 1 Peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254646	rs_137852667	7 SubmittersRCV000535929 RCV000664209 RCV001813969 RCV003114179
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)	SNV Germline	Chr11:68906103	Pathogenic	Autosomal recessive distal spinal muscular atrophy 1 Autosomal recessive distal spinal muscular atrophy 1 Charcot-Marie-Tooth disease axonal type 2S	Criteria Provided Single Submitter	CA254648	rs_137852668	2 SubmittersRCV000009685 RCV003764542
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)	SNV Germline	Chr11:68911599	Pathogenic	Autosomal recessive distal spinal muscular atrophy 1 Charcot-Marie-Tooth disease axonal type 2S	Criteria Provided Multiple Submitters No Conflicts	CA254652	rs_137852669	3 SubmittersRCV000009687 RCV001807723
NM_002180.3(IGHMBP2):c.2611+1G>T	SNV Germline	Chr11:68937092	Pathogenic/Likely pathogenic	Autosomal recessive distal spinal muscular atrophy 1 Condition: not provided Charcot-Marie-Tooth disease axonal type 2S Autosomal recessive distal spinal muscular atrophy 1 Neuronopathy, distal hereditary motor, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA254655	rs_786205090	4 SubmittersRCV000009688 RCV000598811 RCV000528403 RCV000789975
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	SNV Germline	Chr7:30609729	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2D Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease not specified	Criteria Provided Multiple Submitters No Conflicts	CA254704	rs_137852643	8 SubmittersRCV000009782 RCV000327196 RCV000692132 RCV000789142 RCV004018608
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)	SNV Germline	Chr7:30601179	Pathogenic	Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2D	Criteria Provided Single Submitter	CA254706	rs_137852644	5 SubmittersRCV000009783 RCV000857175 RCV001310958 RCV003332077
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)	SNV Germline	Chr7:30599996	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease Neuronopathy, distal hereditary motor, type 5A	No Assertion Criteria Provided	CA254708	rs_137852645	4 SubmittersRCV000009784 RCV000790253 RCV001260976
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)	SNV Germline	Chr7:30628598	Pathogenic	Neuronopathy, distal hereditary motor, type 5A Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA254710	rs_137852646	5 SubmittersRCV000009786 RCV000790258 RCV001542258 RCV002228024
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	SNV Germline	Chr7:30626280	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2D Neuronopathy, distal hereditary motor, type 5A Charcot-Marie-Tooth disease Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA254712	rs_137852647	7 SubmittersRCV000009787 RCV000009788 RCV000790257 RCV001161100 RCV005055510
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)	SNV Germline	Chr7:30612107	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2D	No Assertion Criteria Provided	CA254714	rs_137852648	3 SubmittersRCV000009789
NC_012920.1(MT-ATP6):m.9185T>C	SNV Germline	ChrMT:9185	Pathogenic	Leigh syndrome Charcot-Marie-Tooth disease Mitochondrial disease Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Leber optic atrophy Condition: not provided Mitochondrial DNA-Associated Leigh Syndrome and NARP Charcot-Marie-Tooth disease, type IA NARP syndrome Primary mitochondrial disorders	Reviewed By Expert Panel	CA340928	rs_199476138	18 SubmittersRCV000010282 RCV000240612 RCV000495689 RCV000754648 RCV001542709 RCV001267926 RCV002267606 RCV003224857 RCV004760325 RCV006555303
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)	SNV Germline	ChrX:107639301	Pathogenic	Charcot-Marie-Tooth disease X-linked recessive 5	No Assertion Criteria Provided	CA340958	rs_80338731	2 SubmittersRCV000010612
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	SNV Germline	ChrX:107640939	Likely pathogenic	Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth Neuropathy X	Criteria Provided Multiple Submitters No Conflicts	CA340960	rs_80338732	4 SubmittersRCV000010613 RCV000695028
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)	SNV Germline	ChrX:71224131	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Condition: not provided Charcot-Marie-Tooth Neuropathy X	Criteria Provided Multiple Submitters No Conflicts	CA255229	rs_104894810	8 SubmittersRCV000011176 RCV000236641 RCV000474456
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)	SNV Germline	ChrX:71224221	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth Neuropathy X Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255232	rs_104894811	4 SubmittersRCV000011177 RCV001053029 RCV001090308
NM_000166.6(GJB1):c.415G>A (p.Val139Met)	SNV Germline	ChrX:71224122	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340967	rs_104894812	11 SubmittersRCV000011178 RCV000545060 RCV000789810 RCV002326673 RCV002274895
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)	SNV Germline	ChrX:71224104	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1	No Assertion Criteria Provided	CA255235	rs_104894813	1 SubmittersRCV000011179
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)	SNV Germline	ChrX:71224365	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Condition: not provided Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA255238	rs_104894814	12 SubmittersRCV000011180 RCV000236998 RCV000466155 RCV002362576
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn)	SNV Germline	ChrX:71223796	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1	No Assertion Criteria Provided	CA255242	rs_104894817	1 SubmittersRCV000011181
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)	SNV Germline	ChrX:71224174	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth Neuropathy X Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA255245	rs_104894818	5 SubmittersRCV000011182 RCV000463876 RCV000256065 RCV002326674
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)	SNV Germline	ChrX:71223901	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth Neuropathy X Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255248	rs_104894819	3 SubmittersRCV000011183 RCV001245963 RCV001659691
NM_000166.6(GJB1):c.37G>T (p.Val13Leu)	SNV Germline	ChrX:71223744	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1	No Assertion Criteria Provided	CA255251	rs_104894820	1 SubmittersRCV000011184
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	SNV Germline	ChrX:71223990	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth Neuropathy X Condition: not provided Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA255254	rs_104894821	11 SubmittersRCV000011186 RCV000168221 RCV000235924 RCV000789817 RCV002433451
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)	SNV Germline	ChrX:71224321	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Condition: not provided Charcot-Marie-Tooth Neuropathy X	Criteria Provided Multiple Submitters No Conflicts	CA340970	rs_104894822	7 SubmittersRCV000011187 RCV000991856 RCV000537008
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)	SNV Germline	ChrX:71223961	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Single Submitter	CA255257	rs_104894823	3 SubmittersRCV000011189 RCV000789235 RCV005420515
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)	SNV Germline	ChrX:71223871	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth Neuropathy X	Criteria Provided Multiple Submitters No Conflicts	CA340973	rs_104894824	7 SubmittersRCV000011191 RCV000486043 RCV000789872 RCV001851787
NM_001097642.3(GJB1):c.-16-511G>C	SNV Germline	ChrX:71223181	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1	No Assertion Criteria Provided	CA2499226831	rs_2147944334	1 SubmittersRCV000011194
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)	SNV Germline	ChrX:71224411	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease X-linked dominant 1 not specified Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA340976	rs_104894825	11 SubmittersRCV000011195 RCV000344288 RCV000467010 RCV001271691 RCV001711068 RCV002362577
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)	SNV Germline	ChrX:71224114	Pathogenic	Dejerine-Sottas disease Charcot-Marie-Tooth disease X-linked dominant 1	No Assertion Criteria Provided	CA121071	rs_104894826	2 SubmittersRCV000011197 RCV000011196
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)	SNV Germline	ChrX:78029314	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Charcot-Marie-Tooth disease Menkes kinky-hair syndrome	No Assertion Criteria Provided	CA256075	rs_267606673	3 SubmittersRCV000012561 RCV000789727 RCV001696175
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)	SNV Germline	ChrX:78045502	Pathogenic	X-linked distal spinal muscular atrophy type 3 Charcot-Marie-Tooth disease X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Menkes kinky-hair syndrome	Criteria Provided Single Submitter	CA256077	rs_267606672	4 SubmittersRCV000012562 RCV000789728 RCV001206423 RCV001696176
NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys)	SNV Germline	Chr1:156873858	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA256294	rs_121964869	2 SubmittersRCV000013104 RCV000789504
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)	SNV Germline	Chr9:133352446	Pathogenic	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided Mitochondrial disease Charcot-Marie-Tooth disease type 4K Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA122692	rs_121918657	6 SubmittersRCV000013599 RCV000589222 RCV000599426 RCV003314553 RCV005042037
NM_000371.4(TTR):c.148G>A (p.Val50Met)	SNV Germline	Chr18:31592974	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease Carpal tunnel syndrome 1 Hyperthyroxinemia, dystransthyretinemic Amyloidosis, hereditary systemic 1 Cardiovascular phenotype TTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256790	rs_28933979	40 SubmittersRCV000014359 RCV000159423 RCV000770555 RCV001173292 RCV002476964 RCV002390106 RCV004549361
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	SNV Germline	Chr18:31595157	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256798	rs_121918070	16 SubmittersRCV000014363 RCV000159427 RCV000852477 RCV001173293 RCV002453258
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	SNV Germline	Chr18:31595209	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Charcot-Marie-Tooth disease Cardiovascular phenotype Hyperthyroxinemia, dystransthyretinemic Carpal tunnel syndrome 1 Amyloidosis, hereditary systemic 1	Criteria Provided Multiple Submitters No Conflicts	CA256800	rs_121918071	9 SubmittersRCV000014364 RCV000519257 RCV001173289 RCV002433454 RCV002504783
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	SNV Germline	Chr18:31598655	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiomyopathy Cardiovascular phenotype ATTRV122I amyloidosis Charcot-Marie-Tooth disease Carpal tunnel syndrome 1 Hyperthyroxinemia, dystransthyretinemic Amyloidosis, hereditary systemic 1 Tip-toe gait TTR-related disorder Amyloidosis	Criteria Provided Multiple Submitters No Conflicts	CA214382	rs_76992529	51 SubmittersRCV000014368 RCV000078674 RCV000211747 RCV000243161 RCV000853387 RCV001173290 RCV002476965 RCV003319166 RCV003335038 RCV004798727
NM_000371.4(TTR):c.328C>A (p.His110Asn)	SNV Germline	Chr18:31595247	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 not specified Cardiovascular phenotype Condition: not provided Heart failure Cardiomyopathy Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA179461	rs_121918074	19 SubmittersRCV000014369 RCV000152541 RCV000621211 RCV000857889 RCV000852746 RCV000770556 RCV001173306
NM_000371.4(TTR):c.416C>T (p.Thr139Met)	SNV Germline	Chr18:31598647	Conflicting classifications of pathogenicity	AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF not specified Cardiovascular phenotype Condition: not provided Amyloidosis, hereditary systemic 1 Charcot-Marie-Tooth disease Cardiomyopathy Hyperthyroxinemia, dystransthyretinemic Hyperthyroidism	Criteria Provided Conflicting Classifications	CA123101	rs_28933981	14 SubmittersRCV000014376 RCV000036376 RCV000618448 RCV000714134 RCV000990084 RCV001173303 RCV001170385 RCV003993656 RCV006439569
NM_000371.4(TTR):c.148G>C (p.Val50Leu)	SNV Germline	Chr18:31592974	Pathogenic	Amyloidosis, hereditary systemic 1 Charcot-Marie-Tooth disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256825	rs_28933979	4 SubmittersRCV000014382 RCV001173291 RCV002390107
NM_000371.4(TTR):c.371G>A (p.Arg124His)	SNV Germline	Chr18:31598602	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA179467	rs_121918095	14 SubmittersRCV000014400 RCV000152543 RCV000586735 RCV000621591 RCV001170383 RCV001173296
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)	SNV Germline	Chr8:24955521	Pathogenic	Charcot-Marie-Tooth disease type 2E Condition: not provided	Criteria Provided Single Submitter	CA217588	rs_59443585	3 SubmittersRCV000015072 RCV000057151
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	SNV Germline	Chr8:24956452	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2E Condition: not provided Charcot-Marie-Tooth disease type 1C Peripheral neuropathy Pes cavus Distal lower limb muscle weakness Decreased nerve conduction velocity Peripheral neuropathy Distal muscle weakness Peripheral demyelination Hand muscle atrophy Charcot-Marie-Tooth disease type 1F Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA217568	rs_28928910	7 SubmittersRCV000015073 RCV000057144 RCV000194357 RCV000415401 RCV000414916 RCV001196666 RCV002362585
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro)	SNV Germline	Chr8:24956235	Pathogenic	Charcot-Marie-Tooth disease type 2E Condition: not provided	No Assertion Criteria Provided	CA217544	rs_62636505	2 SubmittersRCV000015078 RCV000057135
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)	SNV Germline	Chr8:24956098	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 1F	No Assertion Criteria Provided	CA217549	rs_121913663	2 SubmittersRCV000057137 RCV000015079
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)	SNV Germline	Chr1:161306870	Pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA257142	rs_121913583	3 SubmittersRCV000015229 RCV000812845 RCV000789440
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)	SNV Germline	Chr1:161306886	Pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA257144	rs_121913584	4 SubmittersRCV000015230 RCV000704216 RCV000789441
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)	SNV Germline	Chr1:161307304	Pathogenic	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT Condition: not provided Dejerine-Sottas disease Charcot-Marie-Tooth disease, type I	Criteria Provided Multiple Submitters No Conflicts	CA123796	rs_121913585	5 SubmittersRCV000015232 RCV000390750 RCV000789439 RCV000803240
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	SNV Germline	Chr1:161306414	Pathogenic	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT Dejerine-Sottas disease 7 conditions Charcot-Marie-Tooth disease, type I	Criteria Provided Multiple Submitters No Conflicts	CA123798	rs_121913586	5 SubmittersRCV000015233 RCV000032123 RCV000198029 RCV001851867
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)	SNV Germline	Chr1:161306752	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1B Condition: not provided Charcot-Marie-Tooth disease, type I MPZ-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257146	rs_121913587	4 SubmittersRCV000015235 RCV000425572 RCV005089261 RCV005867759
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)	SNV Germline	Chr1:161306747	Likely pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257148	rs_121913588	3 SubmittersRCV000015236 RCV000462311 RCV000712317
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)	SNV Germline	Chr1:161306863	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA257150	rs_121913589	6 SubmittersRCV000015237 RCV000638160 RCV000790115 RCV001811142 RCV002433456
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)	SNV Germline	Chr1:161306864	Pathogenic	Charcot-Marie-Tooth disease type 1B Condition: not provided Charcot-Marie-Tooth disease, type I Neuropathy, congenital hypomyelinating, 2 Autosomal dominant MPZ-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA257152	rs_121913590	10 SubmittersRCV000015238 RCV000237048 RCV000548074 RCV005410885 RCV006554440
NM_000530.8(MPZ):c.293G>A (p.Arg98His)	SNV Germline	Chr1:161306863	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Condition: not provided Decreased nerve conduction velocity Pes cavus Sensory neuropathy Distal lower limb amyotrophy Distal muscle weakness Charcot-Marie-Tooth disease Inborn genetic diseases MPZ-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257154	rs_121913589	13 SubmittersRCV000015239 RCV000196172 RCV000376287 RCV000415463 RCV001173692 RCV002433457 RCV004528112
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)	SNV Germline	Chr1:161307304	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I	Criteria Provided Multiple Submitters No Conflicts	CA257156	rs_121913585	3 SubmittersRCV000015240 RCV001173697 RCV001224917
NM_000530.8(MPZ):c.242A>G (p.His81Arg)	SNV Germline	Chr1:161306914	Pathogenic	Charcot-Marie-Tooth disease type 1B Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2I	Criteria Provided Multiple Submitters No Conflicts	CA341323	rs_121913594	6 SubmittersRCV000015242 RCV000518134 RCV000789479 RCV001385507 RCV004795414
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr)	SNV Germline	Chr1:161306815	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA351444	rs_267607241	3 SubmittersRCV000541724 RCV000789491 RCV001508018
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	SNV Germline	Chr1:161306785	Pathogenic	Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease, type I 7 conditions Charcot-Marie-Tooth disease dominant intermediate D Distal hereditary motor neuropathy type 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA257158	rs_121913595	13 SubmittersRCV000015244 RCV000015245 RCV000192248 RCV000517355 RCV000638155 RCV000763262 RCV001262744 RCV002245981 RCV002345245
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)	SNV Germline	Chr1:161307389	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250638	rs_121913596	4 SubmittersRCV000015247 RCV000638171 RCV001173698 RCV001552371
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)	SNV Germline	Chr1:161307268	Pathogenic	Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I	Criteria Provided Single Submitter	CA257160	rs_121913597	3 SubmittersRCV000015248 RCV000190346 RCV001070451
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)	SNV Germline	Chr1:161307361	Pathogenic	Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA257162	rs_121913598	9 SubmittersRCV000015249 RCV000190345 RCV000638152 RCV000790099 RCV001093014 RCV002381251
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)	SNV Germline	Chr1:161306763	Pathogenic	Roussy-Lévy syndrome Charcot-Marie-Tooth disease type 1B Condition: not provided Charcot-Marie-Tooth disease, type I	Criteria Provided Multiple Submitters No Conflicts	CA123803	rs_121913599	4 SubmittersRCV000015250 RCV000192587 RCV000517209 RCV001060346
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)	SNV Germline	Chr1:161306848	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA257164	rs_121913600	4 SubmittersRCV000015251 RCV000536804 RCV001818160 RCV002321483
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)	SNV Germline	Chr1:161307259	Pathogenic/Likely pathogenic	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS Condition: not provided Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease Hereditary neuropathy or pain disorder MPZ-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123805	rs_121913601	10 SubmittersRCV000015252 RCV000436362 RCV000546842 RCV001173691 RCV005865182 RCV005867760
NM_000530.8(MPZ):c.184A>T (p.Ile62Phe)	SNV Germline	Chr1:161307308	Pathogenic	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS Condition: not provided	Criteria Provided Single Submitter	CA123807	rs_121913602	2 SubmittersRCV000015253 RCV005420516
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	SNV Germline	Chr1:161306722	Pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Condition: not provided 7 conditions MPZ-related disorder Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Neuropathy, congenital hypomyelinating, 2	Criteria Provided Multiple Submitters No Conflicts	CA257166	rs_121913603	8 SubmittersRCV000015255 RCV000234112 RCV000235936 RCV000763260 RCV004528113 RCV005862719
NM_000530.8(MPZ):c.178G>C (p.Asp60His)	SNV Germline	Chr1:161307314	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I	Criteria Provided Conflicting Classifications	CA257168	rs_121913604	3 SubmittersRCV000015257 RCV002226649 RCV002514101
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	SNV Germline	Chr1:161307306	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease, type I Roussy-Lévy syndrome Tip-toe gait Condition: not provided	Criteria Provided Conflicting Classifications	CA257170	rs_121913605	7 SubmittersRCV000015258 RCV000799870 RCV001196641 RCV003318543 RCV003736538
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)	SNV Germline	Chr1:161306789	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA257174	rs_121913608	2 SubmittersRCV000015262 RCV000790090
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)	SNV Germline	Chr1:161306843	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2J Condition: not provided Charcot-Marie-Tooth disease, type I	Criteria Provided Conflicting Classifications	CA257177	rs_121913609	3 SubmittersRCV000015263 RCV000223657 RCV001308867
NM_000530.8(MPZ):c.276G>A (p.Val92=)	SNV Germline	Chr1:161306880	Pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I	Criteria Provided Single Submitter	CA421405275	rs_1558154193	3 SubmittersRCV000015264 RCV000790070 RCV000795131
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	SNV Germline	Chr1:156136413	Pathogenic/Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Muscular dystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Abnormality of the musculature Congenital muscular dystrophy due to LMNA mutation Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017033	rs_58932704	22 SubmittersRCV000015565 RCV000057273 RCV000500734 RCV000472112 RCV001095717 RCV001813989 RCV003313922 RCV004639121
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	SNV Germline/somatic	Chr1:156137204	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017498	rs_57520892	8 SubmittersRCV000015569 RCV000015570 RCV000057327 RCV000700159 RCV001375641 RCV004018633
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)	SNV Germline	Chr1:156134474	Pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018275	rs_28933091	7 SubmittersRCV000015572 RCV000057425 RCV000211789 RCV000794743 RCV005589769
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)	SNV Germline	Chr1:156134497	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018298	rs_28933092	5 SubmittersRCV000015573 RCV000057428 RCV000211791 RCV003581565
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)	SNV Germline	Chr1:156137756	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017694	rs_80338938	11 SubmittersRCV000015574 RCV000057044 RCV000705473 RCV001189216 RCV003993745 RCV004018634
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	SNV Germline	Chr1:156136985	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Laminopathy Condition: not provided Emery-Dreifuss muscular dystrophy 3, autosomal recessive Charcot-Marie-Tooth disease type 2 Monogenic diabetes 11 conditions Cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype Primary dilated cardiomyopathy LMNA-related disorder Lipodystrophy - childhood onset 7 conditions	Criteria Provided Conflicting Classifications	CA014814	rs_11575937	22 SubmittersRCV000015575 RCV000041318 RCV000057299 RCV000190399 RCV000459624 RCV000754814 RCV000763258 RCV001179839 RCV001822996 RCV002390111 RCV004806012 RCV004532361 RCV006629059 RCV005862720
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)	SNV Germline	Chr1:156137203	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy Condition: not provided Hutchinson-Gilford syndrome Cardiomyopathy Charcot-Marie-Tooth disease type 2 Congenital muscular dystrophy due to LMNA mutation Primary dilated cardiomyopathy Dilated cardiomyopathy 1A	Criteria Provided Conflicting Classifications	CA017487	rs_57318642	11 SubmittersRCV000015576 RCV000057324 RCV000192011 RCV001185736 RCV001223656 RCV002288492 RCV003996098 RCV003319169
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	SNV Germline	Chr1:156130658	Pathogenic	Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford progeria syndrome, childhood-onset Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018044	rs_60864230	3 SubmittersRCV000015577 RCV000015578 RCV000057399 RCV001387326
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr1:156136984	Pathogenic/Likely pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Familial partial lipodystrophy Cardiovascular phenotype 11 conditions LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017258	rs_57920071	13 SubmittersRCV000015579 RCV000057298 RCV001235764 RCV001174239 RCV001248961 RCV002390112 RCV002482872 RCV004532362
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)	SNV Germline	Chr1:156136934	Pathogenic/Likely pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017164	rs_61282106	4 SubmittersRCV000015584 RCV000057287 RCV001851878
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	SNV Germline	Chr1:156138534	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype LMNA-related disorder Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA020309	rs_57830985	9 SubmittersRCV000015585 RCV000057353 RCV001068657 RCV001804734 RCV002399327 RCV004532363 RCV003996099 RCV004795416
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	SNV Germline	Chr1:156136094	Pathogenic	Condition: not provided Muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2 Sudden unexplained death Cardiovascular phenotype Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016651	rs_61672878	12 SubmittersRCV000057235 RCV000503996 RCV000681569 RCV000547164 RCV001089610 RCV002321484 RCV003319170 RCV005859465 RCV005042056
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	SNV Germline	Chr1:156135268	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Condition: not provided Charcot-Marie-Tooth disease type 2 Autosomal recessive axonal hereditary motor and sensory neuropathy Hutchinson-Gilford syndrome Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA018809	rs_59885338	22 SubmittersRCV000015590 RCV000057479 RCV000653885 RCV000826146 RCV000986429 RCV001176301 RCV002467495 RCV003162253 RCV003996100 RCV005042057
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	SNV Germline	Chr1:156137204	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy, atypical Condition: not provided Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA014822	rs_57520892	16 SubmittersRCV000015592 RCV000057326 RCV000015591 RCV000148607 RCV000555364 RCV001178367 RCV001174240 RCV002399328 RCV003996101 RCV005042058
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)	SNV Germline	Chr1:156138613	Pathogenic	Hutchinson-Gilford syndrome Condition: not provided Hutchinson-Gilford syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Restrictive dermopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA015291	rs_58596362	11 SubmittersRCV000015593 RCV000057364 RCV000150957 RCV000806737 RCV001847608
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)	SNV Germline	Chr1:156136951	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy, atypical Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017213	rs_28928902	9 SubmittersRCV000015597 RCV000057293 RCV001246687 RCV005582255
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	SNV Germline	Chr1:156130741	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018140	rs_28933093	19 SubmittersRCV000015598 RCV000057409 RCV000211788 RCV000687241 RCV001170451 RCV003318333 RCV004018635
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	SNV Germline	Chr1:156130658	Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018038	rs_60864230	3 SubmittersRCV000015602 RCV000057398 RCV000686691
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	SNV Germline	Chr1:156134942	Pathogenic/Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018615	rs_58048078	6 SubmittersRCV000015605 RCV000057457 RCV005089263
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	SNV Germline	Chr1:156138507	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy, atypical Familial partial lipodystrophy, Dunnigan type not specified Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy Familial partial lipodystrophy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation 11 conditions	Criteria Provided Conflicting Classifications	CA020299	rs_60890628	23 SubmittersRCV000015612 RCV000015613 RCV000015614 RCV000041329 RCV000057351 RCV000617932 RCV000653881 RCV001188887 RCV001248900 RCV002221478 RCV002509159 RCV005042059
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)	SNV Germline	Chr1:156136251	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Cardiovascular phenotype 11 conditions	Criteria Provided Conflicting Classifications	CA016847	rs_58672172	10 SubmittersRCV000015616 RCV000057255 RCV000653937 RCV001188431 RCV001174241 RCV001257937 RCV002336085 RCV005042060
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)	SNV Germline	Chr1:156136374	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy, atypical Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease not specified Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA016999	rs_121912493	10 SubmittersRCV000015617 RCV000057268 RCV000552191 RCV001172618 RCV001264435 RCV001186220 RCV002381252 RCV003996102 RCV005049339
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	SNV Germline	Chr1:156134910	Pathogenic/Likely pathogenic	Congenital muscular dystrophy due to LMNA mutation Condition: not provided Charcot-Marie-Tooth disease type 2 LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA018559	rs_121912496	11 SubmittersRCV000015621 RCV000057452 RCV000814531 RCV005229797
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	SNV Germline	Chr1:156136036	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Condition: not provided Charcot-Marie-Tooth disease type 2 Muscular dystrophy Emery-Dreifuss muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA016555	rs_60458016	12 SubmittersRCV000015622 RCV000015623 RCV000057227 RCV000470514 RCV000502108 RCV001420791
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	SNV Germline	Chr1:156138719	Conflicting classifications of pathogenicity	Variant of unknown significance Condition: not provided not specified Primary dilated cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Dilated cardiomyopathy 1A Cardiomyopathy Charcot-Marie-Tooth disease type 2 Monogenic diabetes Familial partial lipodystrophy, Dunnigan type LMNA-related disorder 11 conditions	Criteria Provided Conflicting Classifications	CA014882	rs_142000963	27 SubmittersRCV000015626 RCV000057374 RCV000041340 RCV000148602 RCV000144868 RCV000245284 RCV000755679 RCV000771143 RCV001084244 RCV001174411 RCV002467497 RCV004528114 RCV003224100
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)	SNV Germline	Chr2:27313031	Pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Condition: not provided Mitochondrial DNA depletion syndrome Charcot-Marie-Tooth disease, axonal, type 2EE MPV17-related disorder Mitochondrial disease	Criteria Provided Multiple Submitters No Conflicts	CA341380	rs_121909721	11 SubmittersRCV000017543 RCV000712314 RCV002509162 RCV003466861 RCV004732550 RCV004786268
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)	SNV Germline	Chr2:27313032	Pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Condition: not provided Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease, axonal, type 2EE Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341382	rs_121909723	10 SubmittersRCV000017545 RCV000264441 RCV003227464 RCV003473105 RCV005025062 RCV006451898
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	SNV Germline	Chr2:27312510	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Condition: not provided Charcot-Marie-Tooth disease, axonal, type 2EE Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341383	rs_121909724	5 SubmittersRCV000017547 RCV001851891 RCV003466862 RCV005406748
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)	SNV Germline	Chr10:62813835	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 1D	No Assertion Criteria Provided	CA126843	rs_104894158	3 SubmittersRCV000031897 RCV003447083
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)	SNV Germline	Chr10:62813413	Pathogenic	Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease, type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341431	rs_104894159	5 SubmittersRCV000018234 RCV001049422 RCV003482227
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)	SNV Germline	Chr10:62813563	Pathogenic	Dejerine-sottas neuropathy, autosomal dominant Charcot-Marie-Tooth disease type 1D Dejerine-Sottas disease Charcot-Marie-Tooth disease, type I Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA126845	rs_104894161	9 SubmittersRCV000018236 RCV000018237 RCV000032120 RCV000231023 RCV000498897 RCV000856959
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)	SNV Germline	Chr10:62813404	Pathogenic	Dejerine-sottas neuropathy, autosomal dominant Charcot-Marie-Tooth disease, type I Dejerine-Sottas disease	Criteria Provided Single Submitter	CA126847	rs_121434563	3 SubmittersRCV000018238 RCV001233037 RCV003447084
NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg)	SNV Germline	Chr12:109784378	Likely pathogenic	Metatropic dysplasia Neuromuscular disease Skeletal dysplasia Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Single Submitter	CA117191	rs_121912637	3 SubmittersRCV000005300 RCV000202509 RCV005089285
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)	SNV Germline	Chr12:109800639	Pathogenic	Spondylometaphyseal dysplasia, Kozlowski type Neuromuscular disease Skeletal dysplasia Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Single Submitter	CA117193	rs_267607148	3 SubmittersRCV000005302 RCV000202563 RCV000805229
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)	SNV Germline	Chr12:109784385	Pathogenic	Spondyloepimetaphyseal dysplasia, Maroteaux type Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia Neuromuscular disease Skeletal dysplasia Brachyrachia (short spine dysplasia) Condition: not provided Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Multiple Submitters No Conflicts	CA117195	rs_267607149	7 SubmittersRCV000005304 RCV000005303 RCV000023424 RCV000202566 RCV001331193 RCV001549550 RCV001823100 RCV001851964
NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys)	SNV Germline	Chr12:109808308	Likely pathogenic	Spondyloepimetaphyseal dysplasia, Maroteaux type Skeletal dysplasia Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Single Submitter	CA117197	rs_387906324	3 SubmittersRCV000005306 RCV000202438 RCV001851965
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	SNV Germline	ChrX:71223894	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth Neuropathy X Hereditary neuropathy or pain disorder	Criteria Provided Multiple Submitters No Conflicts	CA341598	rs_116840818	12 SubmittersRCV000020171 RCV000217618 RCV000789665 RCV001064548 RCV006629064
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)	SNV Germline	ChrX:71223930	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Condition: not provided Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA341601	rs_116840819	9 SubmittersRCV000020172 RCV000236563 RCV000654844 RCV000789309 RCV002426512
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)	SNV Germline	ChrX:71223750	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth Neuropathy X Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA333982	rs_116840815	9 SubmittersRCV000020174 RCV000167902 RCV000236824 RCV000789234
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)	SNV Germline	ChrX:71224243	Likely pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Single Submitter	CA341605	rs_116840822	3 SubmittersRCV000020175 RCV000789199 RCV000220506
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	SNV Germline	ChrX:71224263	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA341609	rs_116840821	13 SubmittersRCV000020176 RCV000654837 RCV000789812 RCV001815168 RCV002345250
NM_001034850.3(RETREG1):c.873+2T>C	SNV Germline	Chr5:16478032	Pathogenic	Charcot-Marie-Tooth disease Neuropathy, hereditary sensory and autonomic, type 2B Hereditary sensory and autonomic neuropathy type 2 Condition: not provided	Criteria Provided Single Submitter	CA341808	rs_137852738	4 SubmittersRCV000789099 RCV001843421 RCV003447086 RCV004719655
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)	SNV Germline	Chr15:89328996	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder Inborn genetic diseases Hereditary spastic paraplegia Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA292863	rs_2307437	18 SubmittersRCV000127555 RCV000468571 RCV000710190 RCV001121509 RCV002371780 RCV001847613 RCV005624701
NM_024577.4(SH3TC2):c.1178-1G>A	SNV Germline	Chr5:149028555	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Multiple Submitters No Conflicts	CA342371	rs_80338922	3 SubmittersRCV000020886 RCV000789563 RCV005042074
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	SNV Germline	Chr5:149027763	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339774	rs_80338925	10 SubmittersRCV000020887 RCV000206757 RCV000857147 RCV002496432 RCV004786278
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	SNV Germline	Chr5:149027760	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Susceptibility to mononeuropathy of the median nerve, mild Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Inborn genetic diseases SH3TC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342372	rs_80338926	13 SubmittersRCV000020888 RCV000236498 RCV000654080 RCV001173151 RCV001270096 RCV002490399 RCV002415424 RCV006261942
NM_024577.4(SH3TC2):c.2642A>T (p.Asn881Ile)	SNV Germline	Chr5:149027090	Likely pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4	Criteria Provided Single Submitter	CA342380	rs_80338930	2 SubmittersRCV000789693 RCV006461192
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)	SNV Germline	Chr5:149027022	Pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Condition: not provided Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA339763	rs_80338931	7 SubmittersRCV000020894 RCV000205920 RCV002292457 RCV005042075
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)	SNV Germline	Chr5:149006955	Pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA342388	rs_80338937	2 SubmittersRCV000020898
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)	SNV Germline	Chr5:149038376	Pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4	Criteria Provided Single Submitter	CA342391	rs_80338921	2 SubmittersRCV000789562 RCV001851980
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)	SNV Germline	Chr1:161306774	Likely pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I	Criteria Provided Single Submitter	CA351448	rs_267607243	2 SubmittersRCV000790098 RCV000813380
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)	SNV Germline	Chr9:132327718	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA027386	rs_267607044	3 SubmittersRCV000790202 RCV001755758 RCV005222984
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)	SNV Germline	Chr19:10155017	Pathogenic/Likely pathogenic	Hereditary sensory neuropathy-deafness-dementia syndrome Condition: not provided Charcot-Marie-Tooth disease Autosomal dominant cerebellar ataxia, deafness and narcolepsy	Criteria Provided Multiple Submitters No Conflicts	CA259618	rs_199473690	8 SubmittersRCV000022529 RCV000236669 RCV000789093 RCV002283444
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter)	SNV Germline	Chr8:24955888	Pathogenic	Charcot-Marie-Tooth disease type 1F	No Assertion Criteria Provided	CA259657	rs_199422214	1 SubmittersRCV000022674
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)	SNV Germline	Chr14:101980506	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144804	rs_387906738	8 SubmittersRCV000022929 RCV000055662 RCV000192255 RCV001091151
NM_001376.5(DYNC1H1):c.11465A>C (p.His3822Pro)	SNV Germline	Chr14:102039416	Conflicting classifications of pathogenicity	Intellectual disability, autosomal dominant 13 Charcot-Marie-Tooth disease axonal type 2O	No Assertion Criteria Provided	CA128841	rs_387906739	2 SubmittersRCV000022930 RCV003447090
NM_001376.5(DYNC1H1):c.4552G>A (p.Glu1518Lys)	SNV Germline	Chr14:102002546	Conflicting classifications of pathogenicity	Intellectual disability, autosomal dominant 13 Charcot-Marie-Tooth disease axonal type 2O	No Assertion Criteria Provided	CA128842	rs_387906740	2 SubmittersRCV000022931 RCV003447091
NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu)	SNV Germline	Chr14:101985975	Conflicting classifications of pathogenicity	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Neuronopathy, distal hereditary motor, autosomal dominant Charcot-Marie-Tooth disease axonal type 2O	No Assertion Criteria Provided	CA128843	rs_387906741	3 SubmittersRCV000022932 RCV000789730 RCV003447092
NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys)	SNV Germline	Chr14:101991567	Likely pathogenic	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Charcot-Marie-Tooth disease axonal type 2O Condition: not provided	Criteria Provided Single Submitter	CA128845	rs_387906743	3 SubmittersRCV000022934 RCV003447094 RCV006255321
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr)	SNV Germline	Chr16:70277088	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2N	No Assertion Criteria Provided	CA259750	rs_387906792	2 SubmittersRCV000023068
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	SNV Germline	Chr15:34233934	Pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA259813	rs_606231229	5 SubmittersRCV000023393 RCV000790222
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)	SNV Germline	Chr12:109793560	Pathogenic	Charcot-Marie-Tooth disease axonal type 2C Neuromuscular disease Skeletal dysplasia	Criteria Provided Single Submitter	CA259819	rs_387906902	3 SubmittersRCV000023426 RCV000202508
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)	SNV Germline	Chr12:109803009	Pathogenic	Charcot-Marie-Tooth disease axonal type 2C Neuronopathy, distal hereditary motor, autosomal dominant 8 Condition: not provided Neuromuscular disease Skeletal dysplasia Neuronopathy, distal hereditary motor, autosomal dominant Charcot-Marie-Tooth disease Spondylometaphyseal dysplasia, Kozlowski type	Criteria Provided Multiple Submitters No Conflicts	CA204953	rs_387906904	12 SubmittersRCV000023429 RCV000190886 RCV000236017 RCV000202445 RCV000789594 RCV001172888 RCV001542600
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)	SNV Germline	Chr12:109798819	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2C Neuromuscular disease Clubfoot Lower limb amyotrophy EMG abnormality Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA259821	rs_387906905	10 SubmittersRCV000023430 RCV000202476 RCV000415397 RCV000497541 RCV000856932
NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys)	SNV Germline	Chr14:50623194	Pathogenic	Neuropathy, hereditary sensory, type 1D Osteomyelitis leading to amputation due to slow healing fractures Penetrating foot ulcers Distal sensory impairment Distal lower limb muscle weakness Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA389674137	rs_1555365597	3 SubmittersRCV000023542 RCV000626932 RCV000789726
NM_014874.4(MFN2):c.1392+2T>C	SNV Germline	Chr1:12004615	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA259899	rs_111723244	2 SubmittersRCV000023713 RCV000789373
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)	SNV Germline	Chr1:11998817	Pathogenic	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA129420	rs_387906990	4 SubmittersRCV000023714 RCV000235670 RCV000456775
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	SNV Germline	Chr1:12002028	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Condition: not provided MFN2-related disorder Neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease type 2A2	Criteria Provided Multiple Submitters No Conflicts	CA129423	rs_387906991	12 SubmittersRCV000023716 RCV000240513 RCV000857102 RCV001198485 RCV001388766 RCV002415428 RCV002472935 RCV005867795 RCV005409608
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	SNV Germline	Chr17:42543700	Pathogenic	Mucopolysaccharidosis, MPS-III-B Condition: not provided Sanfilippo syndrome Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B	Criteria Provided Multiple Submitters No Conflicts	CA129472	rs_104894598	11 SubmittersRCV000023780 RCV000433629 RCV000590258 RCV001043861
NM_001005373.4(LRSAM1):c.1914G>A (p.Glu638=)	SNV Germline	Chr9:127501011	Pathogenic	Charcot-Marie-Tooth disease axonal type 2P	No Assertion Criteria Provided	CA259920	rs_387907032	1 SubmittersRCV000023844
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)	SNV Germline	Chr14:104701675	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease dominant intermediate E Condition: not provided Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease dominant intermediate E	Criteria Provided Conflicting Classifications	CA129509	rs_387907034	4 SubmittersRCV000023849 RCV003488347 RCV003764633
NM_022489.4(INF2):c.311G>T (p.Cys104Phe)	SNV Germline	Chr14:104701676	Pathogenic	Charcot-Marie-Tooth disease dominant intermediate E	No Assertion Criteria Provided	CA129510	rs_387907035	1 SubmittersRCV000023850
NM_022489.4(INF2):c.312C>G (p.Cys104Trp)	SNV Germline	Chr14:104701677	Pathogenic	Charcot-Marie-Tooth disease dominant intermediate E Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease dominant intermediate E	Criteria Provided Single Submitter	CA129511	rs_387907036	2 SubmittersRCV000023851 RCV001228020
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)	SNV Germline	Chr14:104701748	Pathogenic	Charcot-Marie-Tooth disease dominant intermediate E Condition: not provided Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease dominant intermediate E Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA129512	rs_387907037	4 SubmittersRCV000023852 RCV000235466 RCV001378421 RCV002362594
NM_022489.4(INF2):c.395T>G (p.Leu132Arg)	SNV Germline	Chr14:104703108	Pathogenic	Charcot-Marie-Tooth disease dominant intermediate E	No Assertion Criteria Provided	CA129513	rs_387907038	1 SubmittersRCV000023853
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)	SNV Germline	Chr12:106457147	Conflicting classifications of pathogenicity	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Condition: not provided POLR-related leukodystrophy Charcot-Marie-Tooth disease, demyelinating, IIA 1I POLR3B-related disorder	Criteria Provided Conflicting Classifications	CA342786	rs_267608687	11 SubmittersRCV000024157 RCV001731314 RCV004760342 RCV005409609 RCV004549387
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	SNV Germline	Chr12:106432421	Pathogenic/Likely pathogenic	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Condition: not provided Hypogonadotropic hypogonadism 7 with or without anosmia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism POLR-related leukodystrophy Hypogonadotropic hypogonadism See cases not specified Charcot-Marie-Tooth disease, demyelinating, IIA 1I POLR3B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA343328	rs_138249161	31 SubmittersRCV000032280 RCV000442312 RCV000763295 RCV001095758 RCV001849282 RCV002251926 RCV002285009 RCV003334378 RCV004549388
NM_001371279.1(REEP1):c.304-2A>G	SNV Germline	Chr2:86252072	Pathogenic	Neuronopathy, distal hereditary motor, type 5B Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA129967	rs_387907242	3 SubmittersRCV000029244 RCV000789557
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	SNV Germline	Chr1:156135967	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Left ventricular noncompaction Heart-hand syndrome, Slovenian type Arrhythmogenic right ventricular cardiomyopathy Laminopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1A 11 conditions Cardiomyopathy Primary familial dilated cardiomyopathy LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA016426	rs_386134243	20 SubmittersRCV000030145 RCV000182368 RCV000546102 RCV000620788 RCV000845456 RCV000721960 RCV000852407 RCV000844672 RCV001196390 RCV002477025 RCV003149579 RCV003492303 RCV004532421
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	SNV Germline	Chr1:156136952	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1A Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA017220	rs_267607578	18 SubmittersRCV000030148 RCV000057294 RCV000154177 RCV000621248 RCV000653872 RCV006547503
NM_000371.4(TTR):c.336+19G>A	SNV Germline	Chr18:31595274	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 not specified Condition: not provided Charcot-Marie-Tooth disease Cardiovascular phenotype TTR-related disorder	Criteria Provided Conflicting Classifications	CA235185	rs_75517067	13 SubmittersRCV000030573 RCV000244982 RCV000723872 RCV001173305 RCV002321492 RCV004549394
NM_002437.5(MPV17):c.186+2T>C	SNV Germline	Chr2:27312992	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Condition: not provided Charcot-Marie-Tooth disease, axonal, type 2EE Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Charcot-Marie-Tooth disease, axonal, type 2EE Uterine corpus endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA319928	rs_147952488	7 SubmittersRCV000031903 RCV000195573 RCV003466880 RCV005025084 RCV005888841
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	SNV Germline	Chr2:27312753	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MPV17-related mitochondrial DNA maintenance defect Condition: not provided Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Charcot-Marie-Tooth disease, axonal, type 2EE	Criteria Provided Multiple Submitters No Conflicts	CA342971	rs_267607261	5 SubmittersRCV000031904 RCV000735226 RCV001385322 RCV003227465 RCV003460535
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)	SNV Germline	Chr2:27312589	Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome Charcot-Marie-Tooth disease, axonal, type 2EE	Criteria Provided Multiple Submitters No Conflicts	CA342980	rs_267607257	3 SubmittersRCV002508895 RCV003111578 RCV003465776
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	SNV Germline	Chr2:27312576	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Condition: not provided MPV17-related disorder Charcot-Marie-Tooth disease, axonal, type 2EE Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Charcot-Marie-Tooth disease, axonal, type 2EE Mitochondrial DNA depletion syndrome Mitochondrial DNA maintenance disorder	Criteria Provided Multiple Submitters No Conflicts	CA322609	rs_267607258	18 SubmittersRCV000031911 RCV000198122 RCV000312148 RCV000768420 RCV002504849 RCV003478980 RCV005867802
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)	SNV Germline	Chr8:74360173	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease recessive intermediate A	Criteria Provided Multiple Submitters No Conflicts	CA343058	rs_281865060	9 SubmittersRCV000031962 RCV000789791 RCV001092877 RCV003447095 RCV005042100
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)	SNV Germline	Chr12:32602217	Pathogenic	Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA343103	rs_63749871	5 SubmittersRCV000032001 RCV000695680 RCV000789104
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)	SNV Germline	Chr12:109808298	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2C Neuromuscular disease Neuronopathy, distal hereditary motor, autosomal dominant 8 Condition: not provided Inborn genetic diseases TRPV4-Related Hereditary Motor And Sensory Neuropathy	Criteria Provided Multiple Submitters No Conflicts	CA204955	rs_397514494	7 SubmittersRCV000032600 RCV000202485 RCV000190887 RCV000235384 RCV001265863 RCV006456633
NM_018706.7(DHTKD1):c.1A>G (p.Met1Val)	SNV Germline	Chr10:12069034	Conflicting classifications of pathogenicity	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease type 2A2	No Assertion Criteria Provided	CA376011070	rs_1564385081	2 SubmittersRCV000032763 RCV003447098
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	SNV Germline	Chr10:12112930	Conflicting classifications of pathogenicity	2-aminoadipic 2-oxoadipic aciduria Condition: not provided not specified Inborn genetic diseases Charcot-Marie-Tooth disease type 2A2 Tip-toe gait Inborn disorder of lysine and hydroxylysine metabolism DHTKD1-related disorder	Criteria Provided Conflicting Classifications	CA130360	rs_117225135	24 SubmittersRCV000032764 RCV000238689 RCV000791040 RCV002513307 RCV003447099 RCV003319173 RCV004017273 RCV004748541
NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)	SNV Germline	Chr10:12094141	Pathogenic	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease axonal type 2Q	Criteria Provided Multiple Submitters No Conflicts	CA130362	rs_397514534	4 SubmittersRCV000032765 RCV003447100 RCV005229839
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)	SNV Germline	Chr10:12097780	Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease type 2A2	Criteria Provided Single Submitter	CA130364	rs_606231237	3 SubmittersRCV000032766 RCV003447101
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val)	SNV Germline	ChrX:130131770	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease X-linked recessive 4	No Assertion Criteria Provided	CA261189	rs_281864468	2 SubmittersRCV000032801
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)	SNV Germline	Chr8:74364270	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease recessive intermediate A Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease recessive intermediate A	Criteria Provided Multiple Submitters No Conflicts	CA130724	rs_397515432	5 SubmittersRCV000033148 RCV001055971 RCV003152669 RCV003447102 RCV005049398
NM_001358263.1(HK1):c.-270G>C	SNV Germline	Chr10:69278711	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4G Condition: not provided Hemolytic anemia due to hexokinase deficiency	Criteria Provided Conflicting Classifications	CA130786	rs_397514654	5 SubmittersRCV000033228 RCV002054534 RCV002247416
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)	SNV Germline	Chr10:62813562	Pathogenic	Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I	Criteria Provided Single Submitter	CA343871	rs_281865136	4 SubmittersRCV000033900 RCV000789743 RCV002514144
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)	SNV Germline	Chr10:62813496	Pathogenic	Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343874	rs_281865137	8 SubmittersRCV000033901 RCV000789745 RCV000701335 RCV002472942
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)	SNV Germline	Chr1:161307403	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1B Dejerine-Sottas disease Charcot-Marie-Tooth disease, type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343888	rs_281865121	4 SubmittersRCV000033911 RCV000789434 RCV001051613 RCV004719671
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)	SNV Germline	Chr1:161306915	Likely pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I	Criteria Provided Single Submitter	CA343894	rs_281865123	4 SubmittersRCV000033913 RCV000789424 RCV003581567
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	SNV Germline	Chr1:161306912	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D See cases	Criteria Provided Multiple Submitters No Conflicts	CA343897	rs_281865124	8 SubmittersRCV000033914 RCV000693764 RCV000789426 RCV001699102 RCV003444056 RCV003335061 RCV003886367
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)	SNV Germline	Chr1:161306767	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 1B Condition: not provided Charcot-Marie-Tooth disease, type I	Criteria Provided Conflicting Classifications	CA243183	rs_281865127	5 SubmittersRCV000033918 RCV000516461 RCV000819474
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	SNV Germline	Chr1:161306426	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Condition: not provided Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA339741	rs_281865128	12 SubmittersRCV000033919 RCV000205003 RCV000217802 RCV000789486 RCV002326719
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)	SNV Germline	Chr1:161305953	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343909	rs_267607247	6 SubmittersRCV000033921 RCV000700463 RCV000789431 RCV002362608 RCV005425707
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)	SNV Germline	Chr16:11553578	Pathogenic	Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA344230	rs_281865134	5 SubmittersRCV000034128 RCV000789997
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)	SNV Germline	Chr16:11549720	Pathogenic	Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA344234	rs_281865135	3 SubmittersRCV000034129 RCV000789996
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)	SNV Germline	Chr1:156134839	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy 3, autosomal recessive Cardiomyopathy Charcot-Marie-Tooth disease type 2 Condition: not provided Abnormality of the musculature Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA018437	rs_199474724	9 SubmittersRCV000034134 RCV000190400 RCV001178806 RCV001384595 RCV001781340 RCV001814022 RCV003996150 RCV005042105
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	SNV Germline	Chr8:24956223	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 1F Condition: not provided Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease, dominant intermediate G Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, dominant intermediate G Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2E Developmental disorder Sensorineural hearing loss disorder NEFL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA217547	rs_58982919	15 SubmittersRCV000034136 RCV000057136 RCV000554079 RCV000585792 RCV000857201 RCV001027680 RCV001843465 RCV005867811
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	SNV Germline	Chr15:44651712	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344293	rs_312262723	7 SubmittersRCV000034170 RCV005007926
NM_025137.4(SPG11):c.1457-2A>G	SNV Germline	Chr15:44649013	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Thymoma Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344297	rs_312262726	6 SubmittersRCV000034173 RCV001847631 RCV005888918 RCV005007927
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)	SNV Germline	Chr15:44628785	Pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Condition: not provided Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344310	rs_199588440	11 SubmittersRCV000034185 RCV003317055 RCV004589527 RCV004767028
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	SNV Germline	Chr15:44626429	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344312	rs_312262737	8 SubmittersRCV000034186 RCV000414282 RCV001807747
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	SNV Germline	Chr15:44660607	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA277361	rs_312262709	11 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485 RCV005007929
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)	SNV Germline	Chr15:44620191	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344327	rs_312262748	3 SubmittersRCV000034199 RCV005007931
NM_025137.4(SPG11):c.2834+1G>T	SNV Germline	Chr15:44620189	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA344329	rs_312262749	9 SubmittersRCV000034200 RCV001836722 RCV003458191 RCV005007932 RCV005742009
NM_025137.4(SPG11):c.3291+1G>T	SNV Germline	Chr15:44610839	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344332	rs_312262753	4 SubmittersRCV000034205 RCV001270133
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)	SNV Germline	Chr15:44574931	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344365	rs_312262774	3 SubmittersRCV000034235 RCV005600627 RCV005007933
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)	SNV Germline	Chr15:44573595	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11	Criteria Provided Conflicting Classifications	CA344372	rs_149003934	8 SubmittersRCV000034242 RCV000594035 RCV002467533 RCV002467534 RCV002477051
NM_025137.4(SPG11):c.6477+4A>G	SNV Germline	Chr15:44570521	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA344377	rs_312262780	6 SubmittersRCV000034246 RCV001847637 RCV002467535 RCV002467536
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)	SNV Germline	Chr15:44565997	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Metabolic disease	Criteria Provided Multiple Submitters No Conflicts	CA344384	rs_312262785	11 SubmittersRCV000034254 RCV001546365 RCV001847638 RCV002362611 RCV004767030 RCV005624720
NM_001005373.4(LRSAM1):c.2047-1G>A	SNV Germline	Chr9:127502773	Pathogenic	Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA374938406	rs_1564287793	3 SubmittersRCV000034318 RCV000789359
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)	SNV Germline	Chr3:179419444	Likely pathogenic	Charcot-Marie-Tooth disease dominant intermediate F	Criteria Provided Single Submitter	CA130933	rs_387907340	2 SubmittersRCV000034850
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)	SNV Germline	Chr3:179416495	Pathogenic	Charcot-Marie-Tooth disease dominant intermediate F	Criteria Provided Single Submitter	CA130934	rs_387907341	2 SubmittersRCV000034851
NM_000371.4(TTR):c.417G>A (p.Thr139=)	SNV Germline	Chr18:31598648	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Amyloidosis, hereditary systemic 1 Cardiomyopathy Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA132602	rs_2276382	15 SubmittersRCV000036377 RCV000248562 RCV000587633 RCV001081376 RCV001170611 RCV001173304
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)	SNV Germline	Chr1:156136070	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy not specified Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA016599	rs_397517886	3 SubmittersRCV000041305 RCV000236658 RCV002513581
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	SNV Germline	Chr1:156136093	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2B1 Cardiovascular phenotype Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy 2, autosomal dominant Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA016641	rs_397517889	14 SubmittersRCV000041308 RCV000223811 RCV000469099 RCV000592134 RCV003236576 RCV003343619 RCV004546422 RCV005402823
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	SNV Germline	Chr1:156136110	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Neuromuscular disease Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA016690	rs_57508089	12 SubmittersRCV000041309 RCV000057239 RCV000468865 RCV000620488 RCV001775074
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)	SNV Germline	Chr1:156136241	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA016833	rs_397517890	4 SubmittersRCV000041311 RCV000725248 RCV000777976 RCV001441153
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	SNV Germline	Chr1:156136257	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Primary dilated cardiomyopathy not specified 11 conditions	Criteria Provided Conflicting Classifications	CA016870	rs_61094188	20 SubmittersRCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000769728 RCV001172616 RCV002345327 RCV003996453 RCV004767033 RCV005042118
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	SNV Germline	Chr1:156137190	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Mandibuloacral dysplasia with type A lipodystrophy Familial partial lipodystrophy, Dunnigan type Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA017459	rs_149339264	19 SubmittersRCV000041322 RCV000233927 RCV000242680 RCV000262946 RCV000289458 RCV000340752 RCV000320484 RCV000380292 RCV000377490 RCV000399953 RCV000777760 RCV001093764 RCV001098994 RCV001172631 RCV001310873
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)	SNV Germline	Chr1:156137666	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Laminopathy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA017615	rs_56984562	13 SubmittersRCV000041325 RCV000057343 RCV000211786 RCV000242991 RCV000462793 RCV004786315 RCV006547559
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)	SNV Germline	Chr1:156137701	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy LMNA-related disorder Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA017656	rs_370219874	14 SubmittersRCV000041326 RCV000619881 RCV000726458 RCV001088399 RCV001180815 RCV004734589 RCV003996457
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)	SNV Germline	Chr1:156138540	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy 11 conditions Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA020327	rs_56657623	11 SubmittersRCV000041330 RCV000057355 RCV001065506 RCV001184222 RCV002504919 RCV002467559 RCV003162351
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)	SNV Germline	Chr1:156138562	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA020366	rs_397517897	9 SubmittersRCV000041333 RCV000530060 RCV001184223 RCV002399397 RCV003996458
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)	SNV Germline	Chr1:156138593	Conflicting classifications of pathogenicity	not specified Condition: not provided Insulin-resistant diabetes mellitus AND acanthosis nigricans Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2 LMNA-related disorder Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Conflicting Classifications	CA014839	rs_60662302	16 SubmittersRCV000041334 RCV000057361 RCV000148601 RCV000617798 RCV000771799 RCV001088263 RCV004541208 RCV004820827
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)	SNV Germline	Chr1:156138640	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA015217	rs_143189394	15 SubmittersRCV000041336 RCV000234314 RCV000769733 RCV001173409 RCV001701583 RCV002408539 RCV003996460
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)	SNV Germline	Chr1:156138701	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy LMNA-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA015346	rs_144851946	11 SubmittersRCV000041338 RCV000725381 RCV001084443 RCV001188113 RCV004541209 RCV005403744
NM_170707.4(LMNA):c.266G>A (p.Arg89His)	SNV Germline	Chr1:156115184	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017833	rs_59040894	2 SubmittersRCV000041342 RCV005089375
NM_170707.4(LMNA):c.357C>T (p.Arg119=)	SNV Germline	Chr1:156130617	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy Primary dilated cardiomyopathy Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Emery-Dreifuss muscular dystrophy 2, autosomal dominant Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease LMNA-related disorder	Criteria Provided Conflicting Classifications	CA014926	rs_41313880	27 SubmittersRCV000041345 RCV000057395 RCV000148598 RCV000211467 RCV000249770 RCV000768710 RCV001081311 RCV001096444 RCV001096445 RCV001096446 RCV001096447 RCV001101878 RCV001101879 RCV001101881 RCV001096443 RCV001101880 RCV001173420 RCV004528231
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	SNV Germline	Chr1:156115268	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Hypertrophic cardiomyopathy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2B1 Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy Familial partial lipodystrophy, Dunnigan type Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant Heart-hand syndrome, Slovenian type Familial partial lipodystrophy, Dunnigan type	Criteria Provided Conflicting Classifications	CA017949	rs_397517901	17 SubmittersRCV000041346 RCV000324940 RCV000653882 RCV000853426 RCV001007778 RCV001098094 RCV001098095 RCV001098092 RCV001098093 RCV001099881 RCV001099882 RCV001182267 RCV002336155 RCV003996462 RCV004558292 RCV005357279
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)	SNV Germline	Chr1:156115274	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA017961	rs_397517902	6 SubmittersRCV000041347 RCV000767136 RCV003581568 RCV006547560
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)	SNV Germline	Chr1:156130696	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA018101	rs_397517903	2 SubmittersRCV000041348 RCV000206666
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)	SNV Germline	Chr1:156130708	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018114	rs_58917027	4 SubmittersRCV000041350 RCV000057407 RCV001265661 RCV001852841
NM_170707.4(LMNA):c.513+1G>C	SNV Germline	Chr1:156130774	Likely pathogenic	Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018184	rs_397517904	2 SubmittersRCV000041353 RCV002513582
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	SNV Germline	Chr1:156134496	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 8 conditions LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA018291	rs_61195471	9 SubmittersRCV000055999 RCV000057427 RCV000211790 RCV000618699 RCV000653912 RCV001824588 RCV004724769
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser)	SNV Germline	Chr1:156134518	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA018335	rs_267607572	5 SubmittersRCV000041357 RCV000057435 RCV005364914 RCV006461277
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	SNV Germline	Chr1:156134838	Pathogenic	Condition: not provided Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018429	rs_60682848	13 SubmittersRCV000057442 RCV000056001 RCV000194831 RCV000211792 RCV000464494 RCV001170453 RCV002362662
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)	SNV Germline	Chr1:156134865	Pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018478	rs_267607573	6 SubmittersRCV000041360 RCV000057446 RCV000653900 RCV000618154 RCV003531940
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	SNV Germline	Chr1:156134890	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 11 conditions	Criteria Provided Conflicting Classifications	CA018498	rs_397517906	14 SubmittersRCV000041361 RCV000182361 RCV000157293 RCV000620828 RCV000770763 RCV000801882 RCV001258043 RCV001798224 RCV004698466 RCV005042120
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)	SNV Germline	Chr1:156134910	Pathogenic/Likely pathogenic	Laminopathy Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA018552	rs_121912496	3 SubmittersRCV000041362 RCV000818791 RCV005638410
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)	SNV Germline	Chr1:156134949	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018633	rs_397517909	2 SubmittersRCV000041366 RCV003581570
NM_170707.4(LMNA):c.789G>A (p.Leu263=)	SNV Germline	Chr1:156134954	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018646	rs_148557956	13 SubmittersRCV000041367 RCV000617711 RCV000723485 RCV001085667 RCV001178117 RCV003996465
NM_170707.4(LMNA):c.78C>T (p.Ile26=)	SNV Germline	Chr1:156114996	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018652	rs_373721390	7 SubmittersRCV000041368 RCV000725413 RCV001079073 RCV001188883 RCV002415484
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)	SNV Germline	Chr1:156134964	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018657	rs_267607593	5 SubmittersRCV000041369 RCV000057461 RCV000617680 RCV002513583
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)	SNV Germline	Chr1:156135239	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA018775	rs_397517911	3 SubmittersRCV000041375 RCV005632207 RCV005089377
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)	SNV Germline	Chr1:156135244	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Myocarditis Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018785	rs_397517912	5 SubmittersRCV000041376 RCV000505709 RCV000692291 RCV002054813
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)	SNV Germline	Chr1:156135271	Conflicting classifications of pathogenicity	not specified Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease LMNA-related disorder Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA014949	rs_150924946	13 SubmittersRCV000041378 RCV000148604 RCV000619864 RCV000726532 RCV000777745 RCV001086902 RCV001174244 RCV004734590 RCV004806042
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	SNV Germline	Chr1:156135913	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy not specified Primary familial dilated cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype LMNA-related disorder Laminopathy	Criteria Provided Multiple Submitters No Conflicts	CA018878	rs_56816490	21 SubmittersRCV000041379 RCV000057489 RCV000560270 RCV000769726 RCV001000784 RCV001251293 RCV001775075 RCV002371856 RCV004541210 RCV006249573
NM_170707.4(LMNA):c.954G>A (p.Ala318=)	SNV Germline	Chr1:156135918	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Condition: not provided Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018888	rs_397517914	4 SubmittersRCV000041380 RCV001447601 RCV002225280 RCV003996466
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	SNV Germline	Chr1:156135925	Pathogenic	Primary dilated cardiomyopathy Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Primary familial dilated cardiomyopathy 11 conditions Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018909	rs_267607554	11 SubmittersRCV000041382 RCV000057493 RCV000619789 RCV000686618 RCV002265579 RCV002483029 RCV005402824
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)	SNV Germline	Chr1:156135940	Conflicting classifications of pathogenicity	Condition: not provided Primary familial hypertrophic cardiomyopathy not specified Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A Cardiomyopathy Primary dilated cardiomyopathy 11 conditions	Criteria Provided Conflicting Classifications	CA018917	rs_56851164	17 SubmittersRCV000057494 RCV000208012 RCV000212504 RCV000544253 RCV000621488 RCV000755678 RCV001192112 RCV003996467 RCV005042121
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)	SNV Germline	Chr1:156135956	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Cardiovascular phenotype Primary familial dilated cardiomyopathy LMNA-related disorder See cases	Criteria Provided Conflicting Classifications	CA018936	rs_59301204	23 SubmittersRCV000182367 RCV000593819 RCV000769727 RCV001071970 RCV001265547 RCV002381325 RCV003235003 RCV003335073 RCV004797773
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)	SNV Germline	Chr8:74360293	Pathogenic	Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 4A	Criteria Provided Single Submitter	CA263216	rs_397515441	3 SubmittersRCV000043548 RCV002513634
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)	SNV Germline	Chr8:74360194	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2K Condition: not provided Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA263218	rs_397515442	8 SubmittersRCV000043549 RCV000254797 RCV000696667 RCV000857206
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu)	SNV Germline	Chr8:74364111	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2K	No Assertion Criteria Provided	CA263220	rs_397515443	2 SubmittersRCV000043550
NM_002972.4(SBF1):c.1249A>G (p.Met417Val)	SNV Germline	Chr22:50465084	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4B3 Microcephaly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA143927	rs_587776986	4 SubmittersRCV000043693 RCV001252745 RCV002514182
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)	SNV Germline	Chr22:50454858	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4B3 Condition: not provided not specified Tip-toe gait	Criteria Provided Conflicting Classifications	CA143929	rs_200488568	11 SubmittersRCV000043694 RCV000762082 RCV002281731 RCV003318497
NM_001376.5(DYNC1H1):c.10008G>T (p.Lys3336Asn)	SNV Germline	Chr14:102032396	Conflicting classifications of pathogenicity	Intellectual disability, autosomal dominant 13 Charcot-Marie-Tooth disease axonal type 2O	No Assertion Criteria Provided	CA143959	rs_397509410	2 SubmittersRCV000049270 RCV003447108
NM_001376.5(DYNC1H1):c.10151G>A (p.Arg3384Gln)	SNV Germline	Chr14:102033136	Pathogenic	Intellectual disability, autosomal dominant 13 Condition: not provided Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Multiple Submitters No Conflicts	CA143960	rs_397509411	4 SubmittersRCV000049271 RCV001091160 RCV003447109
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)	SNV Germline	Chr14:102032419	Pathogenic	Intellectual disability, autosomal dominant 13 Charcot-Marie-Tooth disease axonal type 2O Intellectual disability Lissencephaly	Criteria Provided Multiple Submitters No Conflicts	CA143961	rs_397509412	5 SubmittersRCV000049272 RCV001262933 RCV001255327 RCV001291070
NM_005391.5(PDK3):c.473G>A (p.Arg158His)	SNV Germline	ChrX:24503479	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease X-linked dominant 6 not specified	Criteria Provided Conflicting Classifications	CA144620	rs_397515323	5 SubmittersRCV000054495 RCV004018967
NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val)	SNV Germline	Chr19:10795378	Conflicting classifications of pathogenicity	Fetal akinesia-cerebral and retinal hemorrhage syndrome Charcot-Marie-Tooth disease dominant intermediate B	No Assertion Criteria Provided	CA144625	rs_397514735	2 SubmittersRCV000054501 RCV003447110
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	SNV Germline	Chr1:156134809	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018372	rs_61295588	4 SubmittersRCV000056000 RCV000057438 RCV001382394 RCV002362688
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)	SNV Germline	Chr8:24953779	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease, dominant intermediate G Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 1F	Criteria Provided Multiple Submitters No Conflicts	CA217487	rs_62636503	8 SubmittersRCV000057113 RCV000534161 RCV000585797 RCV001174356 RCV005406797
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys)	SNV Germline	Chr8:24956497	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, dominant intermediate G Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2E	Criteria Provided Conflicting Classifications	CA217523	rs_57848467	4 SubmittersRCV000057126 RCV000789662 RCV005394291 RCV005055556
NM_006158.5(NEFL):c.227T>C (p.Val76Ala)	SNV Germline	Chr8:24956289	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 1F not specified Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease NEFL-related disorder	Criteria Provided Conflicting Classifications	CA217529	rs_58907919	7 SubmittersRCV000057128 RCV000267478 RCV000790247 RCV001087779 RCV001173052 RCV003974942
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln)	SNV Germline	Chr8:24956493	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA217534	rs_61491953	2 SubmittersRCV000057130 RCV001174358
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)	SNV Germline	Chr8:24956493	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA217536	rs_61491953	6 SubmittersRCV000057131 RCV000234847 RCV000789663 RCV002426613
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)	SNV Germline	Chr8:24956493	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2E Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA217537	rs_61491953	5 SubmittersRCV000057132 RCV001235472 RCV003278661
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys)	SNV Germline	Chr8:24956248	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2E	Criteria Provided Multiple Submitters No Conflicts	CA217539	rs_58332872	5 SubmittersRCV000057133 RCV001854171
NM_006158.5(NEFL):c.45G>A (p.Lys15=)	SNV Germline	Chr8:24956471	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2E	Criteria Provided Conflicting Classifications	CA217558	rs_62636518	3 SubmittersRCV000057140 RCV001162498 RCV002513733
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	SNV Germline	Chr8:24955877	Conflicting classifications of pathogenicity	Condition: not provided not specified Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease Inborn genetic diseases NEFL-related disorder	Criteria Provided Conflicting Classifications	CA217562	rs_62636522	13 SubmittersRCV000057142 RCV000507003 RCV001081393 RCV001160882 RCV001173051 RCV002362689 RCV003925018
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)	SNV Germline	Chr1:156135971	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA016433	rs_58105277	8 SubmittersRCV000057214 RCV000225878 RCV002426615 RCV002483086 RCV003996492 RCV006547573
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)	SNV Germline	Chr1:156136003	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016456	rs_267607548	5 SubmittersRCV000057216 RCV001049424 RCV003996494 RCV004639132
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	SNV Germline	Chr1:156136009	Pathogenic/Likely pathogenic	Condition: not provided Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2 Monogenic diabetes 6 conditions 11 conditions Primary dilated cardiomyopathy Laminopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA016479	rs_267607555	12 SubmittersRCV000057218 RCV000500548 RCV000653911 RCV000754811 RCV000845011 RCV002504959 RCV003996495 RCV004786332 RCV005348065
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)	SNV Germline	Chr1:156136010	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016488	rs_58789393	4 SubmittersRCV000057219 RCV001854172 RCV003343625
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)	SNV Germline	Chr1:156115022	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA016503	rs_267607644	5 SubmittersRCV000057221 RCV000499410 RCV001231384
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr1:156136027	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA016527	rs_267607617	3 SubmittersRCV000057223 RCV000233611 RCV003886373
NM_170707.4(LMNA):c.1069G>C (p.Asp357His)	SNV Germline	Chr1:156136033	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA016542	rs_267607567	2 SubmittersRCV000057225 RCV001063774
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)	SNV Germline	Chr1:156136045	Pathogenic	Condition: not provided Muscular dystrophy Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA016566	rs_267607634	3 SubmittersRCV000057229 RCV000504480 RCV001218431
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)	SNV Germline	Chr1:156136062	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA016587	rs_57901307	11 SubmittersRCV000057231 RCV000500477 RCV001178173 RCV001437348 RCV002453371 RCV003996496
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)	SNV Germline	Chr1:156136094	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Congenital muscular dystrophy due to LMNA mutation Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA016657	rs_61672878	10 SubmittersRCV000057236 RCV001237945 RCV002321554 RCV003448256 RCV003996497
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	SNV Germline	Chr1:156136113	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial partial lipodystrophy, Dunnigan type Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2B1	Criteria Provided Conflicting Classifications	CA016698	rs_267607603	9 SubmittersRCV000057240 RCV000259097 RCV000289312 RCV000324542 RCV000355460 RCV000293812 RCV000298159 RCV000327855 RCV000377531 RCV000536971 RCV000619516 RCV000776145 RCV001098597 RCV001093854
NM_170707.4(LMNA):c.1157+1G>A	SNV Germline	Chr1:156136122	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA016716	rs_267607590	3 SubmittersRCV000057242 RCV000621430 RCV002513736
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)	SNV Germline	Chr1:156136121	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA016734	rs_267607545	5 SubmittersRCV000057243 RCV003581572 RCV004819190
NM_170707.4(LMNA):c.1163G>A (p.Arg388His)	SNV Germline	Chr1:156136219	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016807	rs_267607576	5 SubmittersRCV000057251 RCV000805453 RCV001257936 RCV004018987
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)	SNV Germline	Chr1:156115034	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 LMNA-related disorder Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA016815	rs_57983345	8 SubmittersRCV000057252 RCV000557302 RCV004545742 RCV005252725
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)	SNV Germline	Chr1:156114929	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA016863	rs_267607620	2 SubmittersRCV000057257 RCV000818990
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)	SNV Germline	Chr1:156136299	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 11 conditions Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016913	rs_267607606	9 SubmittersRCV000057260 RCV000534245 RCV000764982 RCV001191555 RCV002381362
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)	SNV Germline	Chr1:156136318	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy not specified Cardiovascular phenotype Primary dilated cardiomyopathy Laminopathy	Criteria Provided Conflicting Classifications	CA016923	rs_267607564	9 SubmittersRCV000057261 RCV000694118 RCV000772169 RCV002281901 RCV002444514 RCV003996501 RCV006249579
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)	SNV Germline	Chr1:156115045	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA016942	rs_60446065	4 SubmittersRCV000057262 RCV001225020
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	SNV Germline	Chr1:156136350	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016950	rs_267607618	7 SubmittersRCV000057263 RCV000216125 RCV000230676 RCV002381363 RCV005042174
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	SNV Germline	Chr1:156136359	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Cardiomyopathy Cardiovascular phenotype 11 conditions	Criteria Provided Conflicting Classifications	CA014967	rs_150840924	13 SubmittersRCV000057265 RCV000148606 RCV000150953 RCV000653929 RCV001172619 RCV001524022 RCV002381364 RCV005042175
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)	SNV Germline	Chr1:156136371	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Familial partial lipodystrophy, Dunnigan type LMNA-related disorder Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2B1	Criteria Provided Conflicting Classifications	CA016991	rs_62636506	12 SubmittersRCV000057267 RCV001182564 RCV001225469 RCV002381365 RCV003326119 RCV004537256 RCV003996503 RCV004786333
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)	SNV Germline	Chr1:156136393	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017008	rs_58541611	2 SubmittersRCV000057269 RCV001248144
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)	SNV Germline	Chr1:156136402	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017024	rs_267607637	2 SubmittersRCV000057271 RCV000705578
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)	SNV Germline	Chr1:156115052	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA017029	rs_58436778	4 SubmittersRCV000057272 RCV000692072 RCV002468560
NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro)	SNV Germline	Chr1:156136414	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA017039	rs_267607598	3 SubmittersRCV000057274 RCV002513737 RCV005867842
NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro)	SNV Germline	Chr1:156136417	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017048	rs_267607638	2 SubmittersRCV000057275 RCV003581573
NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)	SNV Germline	Chr1:156136420	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017066	rs_267607597	2 SubmittersRCV000057276 RCV002514281
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)	SNV Germline	Chr1:156136422	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017074	rs_267607599	5 SubmittersRCV000057277 RCV000465598
NM_170707.4(LMNA):c.136A>G (p.Ile46Val)	SNV Germline	Chr1:156115054	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017105	rs_267607615	3 SubmittersRCV000057281 RCV001230439
NM_170707.4(LMNA):c.1380+1G>A	SNV Germline	Chr1:156136437	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 8 conditions Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017128	rs_267607552	5 SubmittersRCV000057283 RCV000697969 RCV001535753 RCV002381366
NM_170707.4(LMNA):c.139G>C (p.Asp47His)	SNV Germline	Chr1:156115057	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017185	rs_267607608	2 SubmittersRCV000057290 RCV001319873
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)	SNV Germline	Chr1:156136951	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Familial partial lipodystrophy, Dunnigan type	Criteria Provided Conflicting Classifications	CA017206	rs_28928902	5 SubmittersRCV000057292 RCV002390204 RCV002514282 RCV004783737
NM_170707.4(LMNA):c.1488+1G>A	SNV Germline	Chr1:156137029	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017312	rs_267607640	4 SubmittersRCV000057305 RCV003298103 RCV003581574
NM_170707.4(LMNA):c.1488+5G>C	SNV Germline	Chr1:156137033	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017326	rs_267607543	4 SubmittersRCV000015610 RCV000057307 RCV003581575
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	SNV Germline	Chr1:156137207	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017504	rs_57629361	7 SubmittersRCV000057328 RCV000201062 RCV000986432 RCV001045262
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	SNV Germline	Chr1:156137207	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Familial partial lipodystrophy, Dunnigan type Abnormality of the musculature Congenital muscular dystrophy due to LMNA mutation Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017510	rs_57629361	9 SubmittersRCV000057329 RCV000472329 RCV000499741 RCV001814041 RCV003483458 RCV006342097
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)	SNV Germline	Chr1:156137207	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017516	rs_57629361	8 SubmittersRCV000057330 RCV001182566 RCV003996505 RCV004018988 RCV005089468
NM_170707.4(LMNA):c.1608+1G>A	SNV Germline	Chr1:156137233	Pathogenic	Condition: not provided Neuromuscular disease Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A 11 conditions Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017556	rs_267607592	7 SubmittersRCV000057335 RCV000150954 RCV000693979 RCV001196083 RCV002490641 RCV004629146
NM_170707.4(LMNA):c.1609-3C>G	SNV Germline	Chr1:156137651	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017576	rs_267607581	9 SubmittersRCV000057338 RCV000154514 RCV000503283 RCV001174242 RCV001854174 RCV002390206 RCV004537257
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)	SNV Germline	Chr1:156137666	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA017601	rs_56984562	3 SubmittersRCV000057341 RCV000823221 RCV004017361
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	SNV Germline	Chr1:156137667	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome LMNA-related disorder Congenital muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA017621	rs_61444459	16 SubmittersRCV000057344 RCV000221013 RCV000230467 RCV000246865 RCV001262710 RCV001836636 RCV003335086 RCV004018989 RCV005252726
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)	SNV Germline	Chr1:156137678	Conflicting classifications of pathogenicity	Condition: not provided Primary familial hypertrophic cardiomyopathy not specified Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease Cardiomyopathy Monogenic diabetes Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Criteria Provided Conflicting Classifications	CA017642	rs_267607613	15 SubmittersRCV000057347 RCV000208352 RCV000454519 RCV000785171 RCV000812762 RCV001004948 RCV001174246 RCV001185752 RCV001174410 RCV003996506 RCV005409612
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)	SNV Germline	Chr1:156138537	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy 11 conditions Familial partial lipodystrophy, Dunnigan type Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA020320	rs_59601651	10 SubmittersRCV000057354 RCV000618100 RCV000653858 RCV001182287 RCV002504960 RCV003333022 RCV003996507
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)	SNV Germline	Chr1:156115102	Pathogenic	Condition: not provided Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017741	rs_56793579	5 SubmittersRCV000057365 RCV000503031 RCV001051802
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)	SNV Germline	Chr1:156115162	Pathogenic	Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017794	rs_59270054	5 SubmittersRCV000057380 RCV000156060 RCV000457442 RCV005589774
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)	SNV Germline	Chr1:156115184	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017839	rs_59040894	3 SubmittersRCV000057383 RCV000462640 RCV005364950
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)	SNV Germline	Chr1:156115192	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017846	rs_267607560	5 SubmittersRCV000057384 RCV002433553 RCV006461342
NM_170707.4(LMNA):c.357-1G>T	SNV Germline	Chr1:156130616	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA017975	rs_267607569	2 SubmittersRCV000057393 RCV001387325
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)	SNV Germline	Chr1:156130679	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018070	rs_60652225	2 SubmittersRCV000057402 RCV001854176
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)	SNV Germline	Chr1:156130687	Pathogenic/Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018081	rs_61661343	5 SubmittersRCV000057404 RCV001258042 RCV001387327 RCV003996511
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	SNV Germline	Chr1:156130757	Pathogenic/Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018166	rs_267607570	6 SubmittersRCV000057411 RCV000503619 RCV000620401 RCV000556738 RCV003993783
NM_170707.4(LMNA):c.513G>A (p.Lys171=)	SNV Germline	Chr1:156130773	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018192	rs_267607542	2 SubmittersRCV000057412 RCV001231297
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)	SNV Germline	Chr1:156134457	Pathogenic	Condition: not provided Dilated cardiomyopathy 1S Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Primary dilated cardiomyopathy LMNA-related disorder Dilated cardiomyopathy 1A 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA018245	rs_59026483	17 SubmittersRCV000057419 RCV000491585 RCV000535082 RCV000619878 RCV003996512 RCV004528262 RCV005862962 RCV005862963
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	SNV Germline	Chr1:156134458	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA018251	rs_267607571	16 SubmittersRCV000057421 RCV000619042 RCV000653887 RCV000768712 RCV001449792 RCV003447483
NM_170707.4(LMNA):c.608A>T (p.Glu203Val)	SNV Germline	Chr1:156134497	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Primary familial dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018303	rs_28933092	3 SubmittersRCV000057429 RCV002513739 RCV004799772
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)	SNV Germline	Chr1:156134507	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018318	rs_267607629	6 SubmittersRCV000057431 RCV000694277 RCV002354249
NM_170707.4(LMNA):c.640-10A>G	SNV Germline	Chr1:156134795	Pathogenic/Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018347	rs_80356807	7 SubmittersRCV000057437 RCV001029824 RCV001221904 RCV002362690
NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)	SNV Germline	Chr1:156134821	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018400	rs_267607584	3 SubmittersRCV000057439 RCV005089470
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	SNV Germline	Chr1:156134859	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 7 conditions	Criteria Provided Single Submitter	CA018465	rs_267607609	3 SubmittersRCV000057444 RCV001038356 RCV001535783
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	SNV Germline	Chr1:156134860	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018472	rs_57207746	3 SubmittersRCV000057445 RCV000201054 RCV001052813
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)	SNV Germline	Chr1:156134901	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018512	rs_267607587	4 SubmittersRCV000057448 RCV001854177
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)	SNV Germline	Chr1:156114991	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA018531	rs_58327533	6 SubmittersRCV000057449 RCV001048135 RCV002381367 RCV005409613
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)	SNV Germline	Chr1:156114991	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA018538	rs_58327533	4 SubmittersRCV000057450 RCV001049614 RCV002381368 RCV005001985
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	SNV Germline	Chr1:156134911	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Muscular dystrophy Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2B1 Abnormality of the musculature Cardiomyopathy Congenital muscular dystrophy 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA018567	rs_59332535	19 SubmittersRCV000057453 RCV000201012 RCV000501991 RCV000496185 RCV000548477 RCV000662104 RCV001814042 RCV003230389 RCV004018991 RCV004795993
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)	SNV Germline	Chr1:156114992	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018579	rs_61578124	2 SubmittersRCV000057454 RCV002513740
NM_170707.4(LMNA):c.810+1G>A	SNV Germline	Chr1:156134976	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018696	rs_267607632	2 SubmittersRCV000057465 RCV000477527
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)	SNV Germline	Chr1:156115000	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018743	rs_59914820	3 SubmittersRCV000057473 RCV000653924 RCV006342098
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)	SNV Germline	Chr1:156135274	Pathogenic/Likely pathogenic	Condition: not provided Lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Cardiomyopathy Hutchinson-Gilford syndrome	Criteria Provided Multiple Submitters No Conflicts	CA018826	rs_267607591	6 SubmittersRCV000057481 RCV000146262 RCV001234965 RCV003227631 RCV006547576 RCV005411317
NM_170707.4(LMNA):c.937-11C>G	SNV Germline	Chr1:156135890	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018858	rs_267607645	2 SubmittersRCV000057486 RCV001854178
NM_170707.4(LMNA):c.937-7C>G	SNV Germline	Chr1:156135894	Conflicting classifications of pathogenicity	Condition: not provided not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Primary dilated cardiomyopathy 11 conditions Dilated cardiomyopathy 1A	Criteria Provided Conflicting Classifications	CA018867	rs_267607681	14 SubmittersRCV000057488 RCV000440584 RCV000530832 RCV000772012 RCV001172638 RCV003996513 RCV005042176 RCV004786335
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)	SNV Germline	Chr1:156135916	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018883	rs_267607574	9 SubmittersRCV000057491 RCV000852590 RCV001182567 RCV001303998 RCV002371900
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	SNV Germline	Chr1:156115016	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018931	rs_267607614	2 SubmittersRCV000057495 RCV002513742
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro)	SNV Germline	Chr1:156135956	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018942	rs_59301204	3 SubmittersRCV000057496 RCV003581578
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)	SNV Germline	Chr1:156115017	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA018951	rs_57966821	4 SubmittersRCV000057498 RCV000790002 RCV001854179
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)	SNV Germline	Chr12:57500337	Conflicting classifications of pathogenicity	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Condition: not provided MARS-related disorder Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease axonal type 2U Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency not specified	Criteria Provided Conflicting Classifications	CA145177	rs_140467171	6 SubmittersRCV000059332 RCV000521595 RCV000709860 RCV001173433 RCV002514303 RCV004019069
NM_015271.5(TRIM2):c.761A>T (p.Glu254Val)	SNV Germline	Chr4:153294460	Pathogenic	Charcot-Marie-Tooth disease type 2R	No Assertion Criteria Provided	CA211304	rs_587777063	1 SubmittersRCV000074302
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)	SNV Germline	Chr17:42543370	Conflicting classifications of pathogenicity	Condition: not provided Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V	Criteria Provided Conflicting Classifications	CA220552	rs_375103824	2 SubmittersRCV000078454 RCV001854380
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)	SNV Germline	Chr17:42537517	Pathogenic	Condition: not provided Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B	Criteria Provided Multiple Submitters No Conflicts	CA220553	rs_398123281	5 SubmittersRCV000078459 RCV000664563 RCV002514378
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)	SNV Germline	Chr17:42541118	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B Mucopolysaccharidosis, MPS-III-B Condition: not provided	Criteria Provided Conflicting Classifications	CA145933	rs_115888189	8 SubmittersRCV000078461 RCV000963953 RCV001123008 RCV001698752
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser)	SNV Germline	ChrX:71223879	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1	No Assertion Criteria Provided	CA267507	rs_483352926	1 SubmittersRCV000083303
NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly)	SNV Germline	ChrX:107640957	Pathogenic	Charcot-Marie-Tooth disease X-linked recessive 5	No Assertion Criteria Provided	CA267604	rs_587777150	1 SubmittersRCV000087131
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)	SNV Germline	Chr12:109796638	Pathogenic	Skeletal dysplasia Metatropic dysplasia Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Multiple Submitters No Conflicts	CA347755	rs_515726153	3 SubmittersRCV000202504 RCV001804841 RCV001854531
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)	SNV Germline	Chr12:109792403	Pathogenic/Likely pathogenic	Skeletal dysplasia Condition: not provided Charcot-Marie-Tooth disease axonal type 2C Spondylometaphyseal dysplasia, Kozlowski type	Criteria Provided Multiple Submitters No Conflicts	CA347704	rs_515726162	4 SubmittersRCV000202452 RCV001596963 RCV003505098 RCV004595924
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	SNV Germline	Chr11:62690476	Conflicting classifications of pathogenicity	Condition: not provided not specified Congenital generalized lipodystrophy type 2 Neuronopathy, distal hereditary motor, type 5A Monogenic diabetes Charcot-Marie-Tooth disease type 2 Hereditary spastic paraplegia Inborn genetic diseases Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5C Congenital generalized lipodystrophy type 2 Severe neurodegenerative syndrome with lipodystrophy	Criteria Provided Conflicting Classifications	CA200862	rs_145649423	20 SubmittersRCV000116504 RCV000174173 RCV000300263 RCV000357438 RCV000664139 RCV001082147 RCV001847675 RCV002426660 RCV002498501
NM_001376.5(DYNC1H1):c.10656C>T (p.Tyr3552=)	SNV Germline	Chr14:102034354	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications	CA231070	rs_587780329	2 SubmittersRCV000116902 RCV003642870
NM_001376.5(DYNC1H1):c.12102+6G>A	SNV Germline	Chr14:102041740	Conflicting classifications of pathogenicity	not specified Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA152623	rs_377669980	7 SubmittersRCV000116903 RCV000286742 RCV000458487 RCV001173884 RCV001704021 RCV002354295
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=)	SNV Germline	Chr14:102015314	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications	CA231072	rs_587780330	2 SubmittersRCV000116905 RCV000649621
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=)	SNV Germline	Chr14:102027639	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease axonal type 2O Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231074	rs_532073330	4 SubmittersRCV000116906 RCV001522978 RCV002371948
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)	SNV Germline	Chr14:102047991	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant cerebellar ataxia Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases DYNC1H1-related disorder	Criteria Provided Conflicting Classifications	CA152632	rs_149300055	10 SubmittersRCV000116910 RCV000233457 RCV001109550 RCV001174052 RCV001719861 RCV002381424 RCV003964979
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)	SNV Germline	Chr5:149041502	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 4 not specified Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA289042	rs_80227512	9 SubmittersRCV000118339 RCV000203974 RCV000212999 RCV000301828 RCV001095080 RCV001173902 RCV002362747
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)	SNV Germline	Chr19:10759766	Conflicting classifications of pathogenicity	not specified Peripheral neuropathy Charcot-Marie-Tooth disease dominant intermediate B Autosomal dominant centronuclear myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158294	rs_144250390	10 SubmittersRCV000120647 RCV000145912 RCV000199355 RCV001122144 RCV002408627
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr)	SNV Germline	Chr19:10825075	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease dominant intermediate B	Criteria Provided Conflicting Classifications	CA158303	rs_587778236	4 SubmittersRCV000120650 RCV000766524 RCV001203864
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)	SNV Germline	Chr1:12005856	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292075	rs_140924661	12 SubmittersRCV000126753 RCV000584855 RCV001079621 RCV001172691 RCV002399499
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	SNV Germline	Chr14:101986017	Pathogenic/Likely pathogenic	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Hereditary motor and sensory neuropathy Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2O Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Intellectual disability, autosomal dominant 13	Criteria Provided Multiple Submitters No Conflicts	CA174988	rs_587780564	13 SubmittersRCV000144249 RCV000149555 RCV000255067 RCV000624400 RCV000755714 RCV000762919
NM_002764.4(PRPS1):c.343A>G (p.Met115Val)	SNV Germline	ChrX:107640938	Pathogenic/Likely pathogenic	Hearing loss, X-linked 1 Charcot-Marie-Tooth disease X-linked recessive 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA270659	rs_587781262	3 SubmittersRCV000143858 RCV000143859 RCV004700434
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)	SNV Germline	ChrX:107650000	Pathogenic	Charcot-Marie-Tooth disease X-linked recessive 5	Criteria Provided Single Submitter	CA270662	rs_587781263	2 SubmittersRCV000143860
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)	SNV Germline	Chr20:10648607	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Isolated Nonsyndromic Congenital Heart Disease Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA270004	rs_527236046	6 SubmittersRCV000132568 RCV000597619 RCV001138646 RCV002498649
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)	SNV Germline	Chr17:42543952	Pathogenic	Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B	Criteria Provided Single Submitter	CA170085	rs_527236038	2 SubmittersRCV000132721 RCV001378699
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)	SNV Germline	Chr17:42543955	Pathogenic	Mucopolysaccharidosis, MPS-III-B Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B	Criteria Provided Single Submitter	CA170087	rs_527236037	3 SubmittersRCV000132722 RCV001036826
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)	SNV Germline	Chr11:62691300	Pathogenic	Severe neurodegenerative syndrome with lipodystrophy Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Berardinelli-Seip congenital lipodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA170512	rs_587777606	6 SubmittersRCV000133397 RCV000412493 RCV000800475 RCV003311693

NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)

SNV
Germline

Chr5:16477736

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2B
Condition: not provided
Charcot-Marie-Tooth disease
Hereditary sensory and autonomic neuropathy type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA251429

rs_137852739

9 SubmittersRCV000000356 RCV000235652 RCV000789098 RCV003447062

NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr5:16565788

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2B
Condition: not provided
Charcot-Marie-Tooth disease
Hereditary sensory and autonomic neuropathy type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA251432

rs_137852737

6 SubmittersRCV000000358 RCV000760442 RCV000789751 RCV003447063

NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)

SNV
Germline

Chr12:32598566

Pathogenic

Charcot-Marie-Tooth disease type 4H
Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA251667

rs_118203972

4 SubmittersRCV000001066 RCV001311296 RCV001851524

NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter)

SNV
Germline

Chr12:32625774

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4H

No Assertion Criteria Provided

CA251669

rs_118203973

2 SubmittersRCV000001069

NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)

SNV
Germline

Chr12:32602217

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA339859

rs_63749871

4 SubmittersRCV000001070 RCV000789103

NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)

SNV
Germline

Chr12:32601410

Pathogenic

Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA339860

rs_118203974

4 SubmittersRCV000001071 RCV001248027

NM_001370298.3(FGD4):c.2173-2A>G

SNV
Germline

Chr12:32633547

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA339862

rs_281865065

4 SubmittersRCV000001072 RCV000789105

NM_022489.4(INF2):c.653G>A (p.Arg218Gln)

SNV
Germline

Chr14:104703440

Pathogenic/Likely pathogenic

Focal segmental glomerulosclerosis 5
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Kidney disorder
Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Multiple Submitters
No Conflicts

CA114723

rs_267607183

13 SubmittersRCV000001106 RCV000681691 RCV001239762 RCV002293970 RCV003352745 RCV004814789

NM_022489.4(INF2):c.652C>T (p.Arg218Trp)

SNV
Germline

Chr14:104703439

Pathogenic/Likely pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Multiple Submitters
No Conflicts

CA114724

rs_267606878

6 SubmittersRCV000001107 RCV001380436 RCV003987303

NM_022489.4(INF2):c.641G>A (p.Arg214His)

SNV
Germline

Chr14:104703428

Pathogenic/Likely pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Kidney disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114725

rs_267606879

6 SubmittersRCV000001108 RCV001380435 RCV002293971 RCV005639061

NM_018122.5(DARS2):c.492+2T>C

SNV
Germline

Chr1:173831632

Pathogenic

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided
Gait ataxia
Gait imbalance
Dysmetria
10 conditions
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LL

Criteria Provided
Multiple Submitters
No Conflicts

CA208387

rs_142433332

22 SubmittersRCV000001117 RCV000255444 RCV000415333 RCV000626946 RCV002512635 RCV005887151 RCV006455044

NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)

SNV
Germline

Chr15:44573652

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA249690

rs_118203963

15 SubmittersRCV000001168 RCV000202373 RCV000414837 RCV000518418 RCV002354145 RCV005007805

NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr15:44663530

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA249693

rs_267607084

4 SubmittersRCV000001170 RCV000202382 RCV000193032 RCV005416315

NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)

SNV
Germline

Chr15:44584057

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA339870

rs_141848292

15 SubmittersRCV000001175 RCV000413953 RCV002345222 RCV002482813

NM_030973.4(MED25):c.1004C>T (p.Ala335Val)

SNV
Germline

Chr19:49830790

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
not specified
Tip-toe gait
MED25-related disorder

Criteria Provided
Conflicting Classifications

CA248234

rs_145770066

16 SubmittersRCV000001387 RCV000192241 RCV000416086 RCV001082848 RCV001262290 RCV001818117 RCV002227925 RCV003924791

NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)

SNV
Germline

Chr17:42544027

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA115042

rs_104894590

8 SubmittersRCV000001626 RCV000078455 RCV000817080

NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)

SNV
Germline

Chr17:42543882

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA115043

rs_104894591

11 SubmittersRCV000001627 RCV000153533 RCV000802847

NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)

SNV
Germline

Chr17:42541074

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Mucopolysaccharidosis
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Familial cancer of breast
Lysosomal storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA115045

rs_104894592

21 SubmittersRCV000001628 RCV000485168 RCV001030805 RCV001041784 RCV005887194 RCV006252548

NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)

SNV
Germline

Chr17:42543934

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250027

rs_104894593

6 SubmittersRCV000001629 RCV001227283 RCV006250231

NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)

SNV
Germline

Chr17:42543933

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115048

rs_104894594

10 SubmittersRCV000001631 RCV001030808 RCV001214750 RCV001579503

NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)

SNV
Germline

Chr17:42543568

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115049

rs_104894595

12 SubmittersRCV000001632 RCV001043674 RCV001030807 RCV001729332

NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)

SNV
Germline

Chr17:42543699

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115050

rs_104894597

12 SubmittersRCV000001633 RCV001223228 RCV002269255

NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)

SNV
Germline

Chr17:42543700

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA115051

rs_104894598

6 SubmittersRCV000001634 RCV001851558

NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)

SNV
Germline

Chr17:42536414

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA115052

rs_118204024

2 SubmittersRCV000001635 RCV002512655

NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)

SNV
Germline

Chr17:42541127

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
NAGLU-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115053

rs_118204025

5 SubmittersRCV000001636 RCV001851559 RCV003894784

NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr17:42543450

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA115054

rs_104894596

8 SubmittersRCV000001637 RCV001214384

NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)

SNV
Germline

Chr17:42538691

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA115055

rs_104894601

6 SubmittersRCV000001638 RCV001203422

NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)

SNV
Germline

Chr6:109715133

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4J
Condition: not provided
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Inborn genetic diseases
FIG4-related disorder
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11

Criteria Provided
Multiple Submitters
No Conflicts

CA233088

rs_121908287

40 SubmittersRCV000001791 RCV000143812 RCV000416487 RCV000476702 RCV001095515 RCV001270162 RCV001535566 RCV001330564 RCV002362551 RCV003952336 RCV005394105

NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)

SNV
Germline

Chr6:109735199

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis
FIG4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA251931

rs_121908288

8 SubmittersRCV000001796 RCV000001793 RCV000235305 RCV001046714 RCV001095516 RCV003944790

NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)

SNV
Germline

Chr1:11992660

Pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252142

rs_28940291

13 SubmittersRCV000002356 RCV000463055 RCV000286431 RCV000857091 RCV003332993 RCV003332992 RCV003343597

NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)

SNV
Germline

Chr1:12011510

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease
not specified
Inborn genetic diseases
MFN2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252145

rs_28940292

14 SubmittersRCV000002357 RCV000197403 RCV000235811 RCV000763240 RCV000857112 RCV001001747 RCV002426480 RCV002444413

NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)

SNV
Germline

Chr1:11992606

Pathogenic

Charcot-Marie-Tooth disease type 2A2
Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252148

rs_28940293

8 SubmittersRCV000002358 RCV000200837 RCV000653847 RCV006362011

NM_014874.4(MFN2):c.839G>A (p.Arg280His)

SNV
Germline

Chr1:12001423

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Criteria Provided
Multiple Submitters
No Conflicts

CA252151

rs_28940294

16 SubmittersRCV000002359 RCV000236600 RCV000549934 RCV000789418 RCV002468552 RCV005409593 RCV006439558

NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)

SNV
Germline

Chr1:11999030

Pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA252154

rs_28940295

3 SubmittersRCV000002360 RCV000789417

NM_014874.4(MFN2):c.205G>T (p.Val69Phe)

SNV
Germline

Chr1:11992584

Pathogenic

Charcot-Marie-Tooth disease type 2A2

No Assertion Criteria Provided

CA252157

rs_28940296

1 SubmittersRCV000002361

NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)

SNV
Germline

Chr1:12002014

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252160

rs_119103261

3 SubmittersRCV000002362 RCV000547064 RCV005003317

NM_014874.4(MFN2):c.493C>G (p.His165Asp)

SNV
Germline

Chr1:11997315

Pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA252163

rs_119103262

3 SubmittersRCV000002363 RCV000789416 RCV001208639

NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)

SNV
Germline

Chr1:11992659

Pathogenic

Charcot-Marie-Tooth disease type 2A2
Hereditary motor and sensory neuropathy with optic atrophy
Condition: not provided
Charcot-Marie-Tooth disease type 2
14 conditions
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Neuropathy, hereditary motor and sensory, type 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA204307

rs_119103263

18 SubmittersRCV000002364 RCV000190245 RCV000200468 RCV000199279 RCV000415132 RCV001173686 RCV003162206 RCV004558234 RCV004558235

NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)

SNV
Germline

Chr1:12001411

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2A2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA115466

rs_119103264

4 SubmittersRCV000002366 RCV001253214 RCV002426481 RCV003482223

NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)

SNV
Germline

Chr1:12002033

Pathogenic

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2A2
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA115469

rs_119103265

15 SubmittersRCV000002367 RCV000023711 RCV000198024 RCV000195560 RCV000857103 RCV000857104

NM_014874.4(MFN2):c.617C>T (p.Thr206Ile)

SNV
Germline

Chr1:11998787

Pathogenic

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA115472

rs_119103266

4 SubmittersRCV000002368 RCV000857095 RCV001268502 RCV006461087

NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)

SNV
Germline

Chr1:12009641

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Condition: not provided
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
MFN2-related disorder
Charcot-Marie-Tooth disease
Peripheral axonal neuropathy
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Neuropathy, hereditary motor and sensory, type 6A
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease, type 2A
Multiple symmetric lipomatosis
Tip-toe gait
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Neuropathy, hereditary motor and sensory, type 6A
Semidominant MFN2-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA252166

rs_119103267

30 SubmittersRCV000002369 RCV000199654 RCV000239892 RCV000472857 RCV000624830 RCV000778183 RCV001173687 RCV001775061 RCV002285136 RCV002247240 RCV002508915 RCV003231070 RCV003319157 RCV002476912 RCV006633880

NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)

SNV
Germline

Chr1:11992689

Pathogenic

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Hereditary motor and sensory neuropathy with optic atrophy
Inborn genetic diseases
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Multiple Submitters
No Conflicts

CA115475

rs_119103268

17 SubmittersRCV000002370 RCV000002371 RCV000144872 RCV000197230 RCV000556047 RCV000515385 RCV001267430 RCV003332994 RCV003332995 RCV005644469

NM_014874.4(MFN2):c.1403G>A (p.Arg468His)

SNV
Germline

Chr1:12004835

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A2
not specified
Hereditary motor and sensory neuropathy with optic atrophy
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Tip-toe gait
Inborn genetic diseases
Optic atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA252169

rs_138382758

15 SubmittersRCV000002372 RCV000196650 RCV000312138 RCV000487518 RCV001172693 RCV001086652 RCV001814957 RCV002390086 RCV004814804 RCV004814803

NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)

SNV
Germline

Chr5:149028146

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA339983

rs_80338923

8 SubmittersRCV000002582 RCV000998463 RCV000857152

NM_024577.4(SH3TC2):c.530-2A>G

SNV
Germline

Chr5:149041619

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA339987

rs_80338920

3 SubmittersRCV000002584 RCV000790209

NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)

SNV
Germline

Chr5:149026903

Pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339988

rs_80338932

7 SubmittersRCV000002585 RCV001223054 RCV001310527

NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)

SNV
Germline

Chr5:149026872

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
SH3TC2-related disorder
Inborn genetic diseases
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA115573

rs_80338933

43 SubmittersRCV000002586 RCV000002587 RCV000168436 RCV000144877 RCV000255213 RCV000282937 RCV000622836 RCV000515338 RCV001851586

NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr5:149010272

Pathogenic

Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA339991

rs_80338934

21 SubmittersRCV000002588 RCV000218266 RCV000654100 RCV000857137 RCV002496231

NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)

SNV
Germline

Chr5:149042718

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
7 conditions
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
not specified
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA115576

rs_80359890

21 SubmittersRCV000002591 RCV000002590 RCV000415264 RCV000656975 RCV001079620 RCV001172848 RCV001705579 RCV001293355 RCV002345223

NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu)

SNV
Germline

Chr12:119187078

Pathogenic

Neuronopathy, distal hereditary motor, type 2A
Charcot-Marie-Tooth disease axonal type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115644

rs_104894351

6 SubmittersRCV000002736 RCV001216811 RCV001532719

NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)

SNV
Germline

Chr12:119187080

Pathogenic

Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA252366

rs_104894345

3 SubmittersRCV000002737 RCV000192250 RCV002472922

NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter)

SNV
Germline

Chr11:9847015

Pathogenic

Charcot-Marie-Tooth disease type 4B2

No Assertion Criteria Provided

CA115862

rs_120074137

1 SubmittersRCV004700180

NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)

SNV
Germline

Chr11:9832290

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Single Submitter

CA115865

rs_120074138

2 SubmittersRCV001045497 RCV004700181

NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)

SNV
Germline

Chr11:9968482

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Multiple Submitters
No Conflicts

CA115868

rs_120074139

5 SubmittersRCV000790190 RCV001055475 RCV003231071 RCV004700182

NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)

SNV
Germline

Chr8:74350553

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A

No Assertion Criteria Provided

CA116681

rs_121908112

2 SubmittersRCV000004409

NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)

SNV
Germline

Chr8:74362940

Pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA116683

rs_104894075

8 SubmittersRCV000004410 RCV000004411 RCV000023562 RCV000760312 RCV002496253

NM_018972.4(GDAP1):c.482G>A (p.Arg161His)

SNV
Germline

Chr8:74360308

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116685

rs_104894076

4 SubmittersRCV000004412 RCV001200307

NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr8:74361886

Pathogenic

Neuropathy, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease type 4A
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease recessive intermediate A

Criteria Provided
Multiple Submitters
No Conflicts

CA116686

rs_104894077

15 SubmittersRCV000004413 RCV000031963 RCV000204463 RCV000236485 RCV000857207 RCV000763605 RCV005055503 RCV005862698

NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)

SNV
Germline

Chr8:74364134

Pathogenic

Charcot-Marie-Tooth disease recessive intermediate A
Condition: not provided
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA116688

rs_28937906

6 SubmittersRCV000004415 RCV000235864 RCV001235354 RCV002504741

NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)

SNV
Germline

Chr8:74360184

Pathogenic

Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 4A
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA339359

rs_104894078

22 SubmittersRCV000004418 RCV000200521 RCV000192249 RCV000236074 RCV001225306 RCV001535613 RCV002453246

NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)

SNV
Germline

Chr8:74360295

Pathogenic

Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA253038

rs_104894079

4 SubmittersRCV000004419 RCV000798174 RCV001533514

NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)

SNV
Germline

Chr8:74364005

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Condition: not provided
Elevated circulating alkaline phosphatase concentration
Polyneuropathy
Peripheral axonal neuropathy
Elevated circulating creatine kinase concentration
Sensory neuropathy
GDAP1-related disorder
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA116689

rs_104894080

17 SubmittersRCV000004420 RCV000033147 RCV000034153 RCV000439841 RCV000414821 RCV000779562 RCV000789780 RCV002362562 RCV002496254

NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu)

SNV
Germline

Chr8:74363011

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A

No Assertion Criteria Provided

CA253040

rs_121908113

2 SubmittersRCV000004421 RCV003447065

NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)

SNV
Germline

Chr8:74363051

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2K
Condition: not provided
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA253042

rs_121908114

10 SubmittersRCV000004422 RCV000214299 RCV000703370 RCV000857208 RCV002362563 RCV005041980

NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr)

SNV
Germline

Chr8:74364009

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2K

No Assertion Criteria Provided

CA253044

rs_121908115

2 SubmittersRCV000004423 RCV003447066

NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser)

SNV
Germline

Chr8:74363037

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2K

No Assertion Criteria Provided

CA253046

rs_267606842

2 SubmittersRCV000004424 RCV003447067

NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)

SNV
Germline

Chr11:62692413

Pathogenic

Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Berardinelli-Seip congenital lipodystrophy
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17

Criteria Provided
Multiple Submitters
No Conflicts

CA277926

rs_137852971

5 SubmittersRCV000004797 RCV003581554 RCV003311642 RCV005049316

NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)

SNV
Germline

Chr11:62702493

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 17
Condition: not provided
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5A
Neuronopathy, distal hereditary motor, type 5C
Abnormal central motor function
BSCL2-related disorder
Berardinelli-Seip congenital lipodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116912

rs_137852973

13 SubmittersRCV000004803 RCV000235980 RCV000547334 RCV000755016 RCV001270681 RCV001813950 RCV004766979 RCV003311647

NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)

SNV
Germline

Chr11:62692671

Pathogenic

Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Berardinelli-Seip congenital lipodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA277936

rs_137852975

4 SubmittersRCV000004805 RCV000196081 RCV003311649

NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu)

SNV
Germline

Chr1:10258602

Pathogenic

Charcot-Marie-Tooth disease type 2A1

No Assertion Criteria Provided

CA253243

rs_121908160

1 SubmittersRCV000004921

NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)

SNV
Germline

Chr1:10324838

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2
Neuroblastoma
Malignant tumor of breast
Charcot-Marie-Tooth disease
Condition: not provided
KIF1B-related disorder
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA116990

rs_121908162

10 SubmittersRCV000004923 RCV000198737 RCV001098679 RCV001269366 RCV001173590 RCV003237410 RCV004742212 RCV004018562 RCV005394118

NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)

SNV
Germline

Chr1:10345943

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 1
Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA116993

rs_121908163

4 SubmittersRCV000004924 RCV000490400 RCV000865916 RCV004018563

NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)

SNV
Germline

Chr19:40395495

Pathogenic

Autosomal recessive Dejerine-Sottas syndrome
Charcot-Marie-Tooth disease type 4F
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
PRX-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117076

rs_104894714

8 SubmittersRCV000005053 RCV000201141 RCV000236836 RCV000458979 RCV001172752 RCV004751202

NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)

SNV
Germline

Chr19:40397250

Pathogenic/Likely pathogenic

Autosomal recessive Dejerine-Sottas syndrome
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Peripheral neuropathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA117079

rs_104894715

8 SubmittersRCV000005055 RCV000760443 RCV000688310 RCV001353155 RCV001813951 RCV002453248

NM_181882.3(PRX):c.586C>T (p.Arg196Ter)

SNV
Germline

Chr19:40397766

Pathogenic

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117082

rs_104894706

4 SubmittersRCV000005057 RCV000789537 RCV001222897 RCV001781189

NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)

SNV
Germline

Chr19:40396207

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA343107

rs_104894707

11 SubmittersRCV000032004 RCV000474032 RCV000760319 RCV001172756 RCV002426489

NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)

SNV
Germline

Chr19:40395144

Pathogenic/Likely pathogenic

Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA117085

rs_104894708

7 SubmittersRCV000005061 RCV000032006 RCV000701391

NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)

SNV
Germline

Chr9:92080045

Pathogenic

Hereditary sensory and autonomic neuropathy type 1
Neuropathy, hereditary sensory and autonomic, type 1A
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340286

rs_119482081

8 SubmittersRCV000005067 RCV001249800 RCV001027483 RCV002512792 RCV004998075

NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)

SNV
Germline

Chr9:92068095

Pathogenic/Likely pathogenic

Hereditary sensory and autonomic neuropathy type 1
Condition: not provided
Charcot-Marie-Tooth disease
Neuropathy, hereditary sensory and autonomic, type 1A
Inborn genetic diseases
SPTLC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340288

rs_119482083

11 SubmittersRCV000005068 RCV000235837 RCV001174070 RCV001249799 RCV002326664 RCV004755711

NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)

SNV
Germline

Chr9:92080044

Pathogenic

Hereditary sensory and autonomic neuropathy type 1
Charcot-Marie-Tooth disease
Sensorimotor neuropathy
Neuropathy, hereditary sensory and autonomic, type 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340293

rs_119482082

6 SubmittersRCV000005070 RCV001174071 RCV001004021 RCV001249798 RCV004597725

NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)

SNV
Germline

Chr12:109792407

Pathogenic

Brachyrachia (short spine dysplasia)
Skeletal dysplasia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA117164

rs_121912632

4 SubmittersRCV000005280 RCV000202519 RCV001269634 RCV003505079

NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)

SNV
Germline

Chr12:109792396

Pathogenic/Likely pathogenic

Brachyrachia (short spine dysplasia)
Skeletal dysplasia
Neuromuscular disease
Skeletal dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Charcot-Marie-Tooth disease
Metatropic dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA117166

rs_121912633

8 SubmittersRCV000005281 RCV000202464 RCV000202535 RCV000545248 RCV000728663 RCV001172890 RCV003992145

NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)

SNV
Germline

Chr12:109792695

Pathogenic/Likely pathogenic

Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Neuromuscular disease
Skeletal dysplasia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Metatropic dysplasia
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal dominant 8
Multiple epiphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA117168

rs_77975504

15 SubmittersRCV000005282 RCV000005283 RCV000202560 RCV000498625 RCV000691603 RCV001618207 RCV002512802 RCV002243623 RCV005624676

NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)

SNV
Germline

Chr12:109784378

Pathogenic

Spondyloepimetaphyseal dysplasia, Maroteaux type
Metatropic dysplasia
Skeletal dysplasia
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C
Parastremmatic dwarfism
Condition: not provided
Spondylometaphyseal dysplasia, Kozlowski type
TRPV4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117176

rs_121912637

14 SubmittersRCV000005288 RCV000005287 RCV000202554 RCV000624630 RCV000707315 RCV001253672 RCV001311314 RCV003388565 RCV005867724

NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)

SNV
Germline

Chr12:109798823

Pathogenic/Likely pathogenic

Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Condition: not provided
Neuromuscular disease
Neuronopathy, distal hereditary motor, autosomal dominant
Inborn genetic diseases
TRPV4-Associated Disorders
TRPV4-related disorder
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8

Criteria Provided
Multiple Submitters
No Conflicts

CA117178

rs_267607143

15 SubmittersRCV000005290 RCV000005291 RCV000005289 RCV000236487 RCV000202514 RCV000789585 RCV002371762 RCV003335013 RCV004547459 RCV005409595

NM_021625.5(TRPV4):c.806G>A (p.Arg269His)

SNV
Germline

Chr12:109800665

Pathogenic/Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal dominant 8
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Neuromuscular disease
Condition: not provided
Inborn genetic diseases
11 conditions
TRPV4-related bone disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117180

rs_267607144

17 SubmittersRCV000005292 RCV000005293 RCV000192243 RCV000202467 RCV000235740 RCV000623703 RCV000763296 RCV003320352

NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)

SNV
Germline

Chr12:109798820

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Condition: not provided
Neuromuscular disease
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, autosomal dominant
TRPV4-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA117182

rs_267607145

9 SubmittersRCV000005294 RCV000005295 RCV000236285 RCV000202561 RCV000192245 RCV000789587 RCV001796956 RCV002371763

NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)

SNV
Germline

Chr12:109800666

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuromuscular disease
Neuronopathy, distal hereditary motor, autosomal dominant 8
Condition: not provided
Hereditary motor neuron disease
Distal spinal muscular atrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA130778

rs_267607146

10 SubmittersRCV000005296 RCV000033215 RCV000202537 RCV000190885 RCV000517563 RCV001027476 RCV000856933 RCV002415400

NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)

SNV
Germline

Chr8:133258374

Pathogenic

Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340338

rs_119483085

11 SubmittersRCV000005427 RCV000469692 RCV001092150

NM_006096.4(NDRG1):c.538-1G>A

SNV
Germline

Chr8:133254596

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA186375958

rs_11575976

2 SubmittersRCV000005428 RCV000790135

NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter)

SNV
Germline

Chr15:34236719

Pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
See cases
Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Multiple Submitters
No Conflicts

CA340397

rs_121908427

11 SubmittersRCV000005652 RCV001045170 RCV002251882 RCV005007826

NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)

SNV
Germline

Chr15:34257713

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA253467

rs_121908429

7 SubmittersRCV000005657 RCV000790223 RCV002512812

NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)

SNV
Germline

Chr16:11553576

Pathogenic

Charcot-Marie-Tooth disease type 1C
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA340507

rs_104894519

14 SubmittersRCV000006429 RCV000235719 RCV001173620 RCV002321474

NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)

SNV
Germline

Chr16:11553566

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340511

rs_104894520

5 SubmittersRCV000006430 RCV000991836

NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)

SNV
Germline

Chr16:11553564

Pathogenic

Charcot-Marie-Tooth disease type 1C

Criteria Provided
Single Submitter

CA340515

rs_104894521

3 SubmittersRCV000006431

NM_001136472.2(LITAF):c.364C>G (p.Leu122Val)

SNV
Germline

Chr16:11553546

Pathogenic

Charcot-Marie-Tooth disease type 1C

No Assertion Criteria Provided

CA253743

rs_104894522

1 SubmittersRCV000006432

NM_003640.5(ELP1):c.2204+6T>C

SNV
Germline

Chr9:108899816

Pathogenic

Familial dysautonomia
Condition: not provided
Charcot-Marie-Tooth disease
not specified
Medulloblastoma
Primary dysautonomia
Ovarian serous cystadenocarcinoma
Familial dysautonomia
Medulloblastoma
Sarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA284834

rs_111033171

23 SubmittersRCV000006458 RCV000058928 RCV000789357 RCV004018577 RCV003444194 RCV005357084 RCV005887326 RCV005041994 RCV005887325

NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)

SNV
Germline

Chr9:108900303

Pathogenic/Likely pathogenic

Familial dysautonomia
Charcot-Marie-Tooth disease
Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA253767

rs_137853022

9 SubmittersRCV000006459 RCV000789660 RCV001380395 RCV002482833

NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)

SNV
Germline

Chr9:108894062

Likely pathogenic

Familial dysautonomia
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA253769

rs_28939712

3 SubmittersRCV000006460 RCV000789661

NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)

SNV
Germline

Chr1:32810994

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA118052

rs_121908833

3 SubmittersRCV000006565 RCV000789620

NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)

SNV
Germline

Chr1:32797768

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Criteria Provided
Multiple Submitters
No Conflicts

CA118054

rs_121908834

5 SubmittersRCV000006566 RCV000789621 RCV003328123

NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)

SNV
Germline

Chr11:95845063

Pathogenic

Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA253823

rs_121434402

2 SubmittersRCV000006609 RCV000814403

NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)

SNV
Germline

Chr11:95849841

Pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

CA340529

rs_121434403

3 SubmittersRCV000006611

NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter)

SNV
Germline

Chr11:95841652

Pathogenic

Charcot-Marie-Tooth disease type 4B1

No Assertion Criteria Provided

CA253826

rs_121434404

1 SubmittersRCV000006612

NM_001005361.3(DNM2):c.1684A>G (p.Lys562Glu)

SNV
Germline

Chr19:10819992

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease dominant intermediate B

No Assertion Criteria Provided

CA118652

rs_121909088

3 SubmittersRCV000007700 RCV000789618 RCV003447076

NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)

SNV
Germline

Chr19:10793833

Pathogenic

Autosomal dominant centronuclear myopathy
Centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Reviewed By Expert Panel

CA118655

rs_121909089

9 SubmittersRCV000007702 RCV000145900 RCV000701394 RCV001781202

NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)

SNV
Germline

Chr19:10793832

Pathogenic

Autosomal dominant centronuclear myopathy
Centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease
Condition: not provided
Limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA118658

rs_121909090

11 SubmittersRCV000007703 RCV000145899 RCV000641108 RCV001027496 RCV001537068 RCV005624680

NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)

SNV
Germline

Chr19:10798543

Pathogenic

Autosomal dominant centronuclear myopathy
Centronuclear myopathy
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Abnormality of the musculature
DNM2-related disorder

Reviewed By Expert Panel

CA172098

rs_121909091

18 SubmittersRCV000007704 RCV000145902 RCV000373773 RCV000641110 RCV001813964 RCV004745149

NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)

SNV
Germline

Chr19:10793829

Pathogenic

Autosomal dominant centronuclear myopathy
Centronuclear myopathy
Myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
DNM2-related disorder

Reviewed By Expert Panel

CA118661

rs_121909092

14 SubmittersRCV000007705 RCV000145898 RCV000626717 RCV000554046 RCV000725988 RCV003914819

NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)

SNV
Germline

Chr19:10812315

Conflicting classifications of pathogenicity

Autosomal dominant Charcot-Marie-Tooth disease type 2M
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease dominant intermediate B

No Assertion Criteria Provided

CA118664

rs_121909093

3 SubmittersRCV000007706 RCV000789617 RCV003447077

NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)

SNV
Germline

Chr19:10820017

Conflicting classifications of pathogenicity

Autosomal dominant Charcot-Marie-Tooth disease type 2M
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease dominant intermediate B

No Assertion Criteria Provided

CA118667

rs_121909094

3 SubmittersRCV000007707 RCV000789619 RCV003447078

NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)

SNV
Germline

Chr19:10823862

Pathogenic

Severe X-linked myotubular myopathy
Centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Autosomal dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Fetal akinesia-cerebral and retinal hemorrhage syndrome

Reviewed By Expert Panel

CA172110

rs_121909095

11 SubmittersRCV000007708 RCV000145908 RCV000544279 RCV000656268 RCV000754751 RCV002504764

NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)

SNV
Germline

Chr19:10823862

Pathogenic

Severe X-linked myotubular myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Single Submitter

CA254140

rs_121909095

3 SubmittersRCV000007709 RCV003447079 RCV003441708

NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)

SNV
Germline

Chr19:10793799

Pathogenic/Likely pathogenic

Autosomal dominant Charcot-Marie-Tooth disease type 2M
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Multiple Submitters
No Conflicts

CA248603

rs_267606772

6 SubmittersRCV000007710 RCV000369987 RCV000203266

NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)

SNV
Germline

Chr3:128806576

Pathogenic

Charcot-Marie-Tooth disease type 2B
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA219656

rs_121909078

5 SubmittersRCV000007770 RCV000059221 RCV000789555

NM_004637.6(RAB7A):c.484G>A (p.Val162Met)

SNV
Germline

Chr3:128807627

Pathogenic

Charcot-Marie-Tooth disease type 2B
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA219662

rs_121909079

5 SubmittersRCV000007771 RCV000059224 RCV000789554

NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr)

SNV
Germline

Chr3:128807625

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA219660

rs_121909080

5 SubmittersRCV000007772 RCV000059223 RCV000789552 RCV006362016

NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn)

SNV
Germline

Chr3:128807614

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B
Condition: not provided
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA219658

rs_121909081

3 SubmittersRCV000007773 RCV000059222 RCV000789553

NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)

SNV
Germline

Chr7:76303841

Pathogenic

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118820

rs_28939680

5 SubmittersRCV000007905 RCV000007904 RCV000789332 RCV003482225

NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)

SNV
Germline

Chr7:76303816

Pathogenic

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA118822

rs_29001571

8 SubmittersRCV000007906 RCV000007907 RCV000489743 RCV002354152

NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)

SNV
Germline

Chr7:76304007

Pathogenic/Likely pathogenic

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118824

rs_28937568

5 SubmittersRCV000007908 RCV000809687 RCV001174177 RCV001815164

NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu)

SNV
Germline

Chr7:76304100

Pathogenic

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Single Submitter

CA118826

rs_28937569

2 SubmittersRCV000007909 RCV005089204

NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)

SNV
Germline

Chr7:76303843

Pathogenic

Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Single Submitter

CA254190

rs_28939681

2 SubmittersRCV000007910

NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)

SNV
Germline

Chr7:76304099

Pathogenic/Likely pathogenic

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA118828

rs_104894020

4 SubmittersRCV000007911 RCV000809907

NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)

SNV
Germline

Chr7:76303855

Pathogenic

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Charcot-Marie-Tooth disease
HSPB1-related axonal neuropathies
Inborn genetic diseases
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA118831

rs_121909112

12 SubmittersRCV000007912 RCV000688660 RCV001508210 RCV001174175 RCV001794438 RCV002326670 RCV005042012

NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)

SNV
Germline

Chr20:10658612

Pathogenic

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
JAG1-related disorder
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Multiple Submitters
No Conflicts

CA254222

rs_121918350

7 SubmittersRCV000008058 RCV000729764 RCV004739294 RCV005031418

NM_000214.3(JAG1):c.551G>A (p.Arg184His)

SNV
Germline

Chr20:10658611

Pathogenic

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Arteriohepatic dysplasia
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Multiple Submitters
No Conflicts

CA254223

rs_121918351

8 SubmittersRCV000008059 RCV000725979 RCV005002140 RCV002476943

NM_005548.3(KARS1):c.314T>A (p.Leu105His)

SNV
Germline

Chr16:75640258

Pathogenic

Charcot-Marie-Tooth disease recessive intermediate B

No Assertion Criteria Provided

CA119343

rs_267607194

1 SubmittersRCV000008647

NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)

SNV
Germline

Chr2:74366896

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis, susceptibility to
Charcot-Marie-Tooth disease
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Condition: not provided
Inborn genetic diseases
DCTN1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA119587

rs_121909344

14 SubmittersRCV000008912 RCV000144867 RCV000644476 RCV000986781 RCV001140673 RCV001140674 RCV001572734 RCV002444424 RCV003952351 RCV006268074

NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)

SNV
Germline

Chr17:15260681

Pathogenic

Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA340784

rs_104894617

3 SubmittersRCV000008940 RCV000685070

NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)

SNV
Germline

Chr17:15239554

Pathogenic

Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA254385

rs_104894618

2 SubmittersRCV000008941 RCV002512923

NM_000304.4(PMP22):c.353C>T (p.Thr118Met)

SNV
Germline

Chr17:15231047

Conflicting classifications of pathogenicity

Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease, type 1a, autosomal recessive
Charcot-Marie-Tooth disease, type IA
not specified
Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease
Tip-toe gait
Charcot-Marie-Tooth disease type 1E
6 conditions

Criteria Provided
Conflicting Classifications

CA119616

rs_104894619

22 SubmittersRCV000008946 RCV000008945 RCV000032119 RCV000194789 RCV000197572 RCV000224441 RCV001027473 RCV001507314 RCV005862500 RCV005394144

NM_000304.4(PMP22):c.206T>A (p.Met69Lys)

SNV
Germline

Chr17:15239584

Pathogenic

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA119618

rs_104894620

4 SubmittersRCV000008947 RCV000494533 RCV001380437 RCV003338380

NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)

SNV
Germline

Chr17:15239575

Pathogenic

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Charcot-Marie-Tooth disease, type I
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease, type IA
PMP22-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119620

rs_104894621

8 SubmittersRCV000008948 RCV000456500 RCV000489163 RCV000622525 RCV001729342 RCV005867733

NM_000304.4(PMP22):c.36C>A (p.His12Gln)

SNV
Germline

Chr17:15260692

Pathogenic/Likely pathogenic

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
Dejerine-Sottas disease
Roussy-Lévy syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA119622

rs_104894622

6 SubmittersRCV000008949 RCV000168060 RCV000622783 RCV000790177 RCV001195890 RCV006436382

NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)

SNV
Germline

Chr17:15239591

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1E
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA340786

rs_104894623

4 SubmittersRCV000008951 RCV000992662 RCV001047019

NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)

SNV
Germline

Chr17:15230952

Conflicting classifications of pathogenicity

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA119624

rs_104894624

3 SubmittersRCV000008954 RCV000594940 RCV001221866

NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)

SNV
Germline

Chr17:15259190

Likely pathogenic

Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342724

rs_104894626

4 SubmittersRCV000023072 RCV002512924 RCV004700206

NM_000304.4(PMP22):c.110A>T (p.Asp37Val)

SNV
Germline

Chr17:15259162

Pathogenic

Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths

No Assertion Criteria Provided

CA119626

rs_104894627

1 SubmittersRCV000008955

NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)

SNV
Germline

Chr17:15239591

Conflicting classifications of pathogenicity

Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA254388

rs_104894623

5 SubmittersRCV000008956 RCV001173915 RCV002288476 RCV003581556 RCV005641492

NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)

SNV
Germline

Chr17:15230931

Pathogenic/Likely pathogenic

Autosomal recessive Dejerine-Sottas syndrome
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease, type I
Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA119628

rs_28936682

6 SubmittersRCV000008957 RCV000193053 RCV001229968 RCV001332355 RCV001173916

NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)

SNV
Germline

Chr17:15260663

Pathogenic

Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease, type IA

No Assertion Criteria Provided

CA254390

rs_104894625

2 SubmittersRCV000008958 RCV000008959

NM_001605.3(AARS1):c.986G>A (p.Arg329His)

SNV
Germline

Chr16:70268356

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided
AARS1-related disorder
Hereditary neuropathy or pain disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA254396

rs_267606621

15 SubmittersRCV000008987 RCV000192253 RCV000168406 RCV001269580 RCV004730838 RCV006629054

NM_007126.5(VCP):c.572G>A (p.Arg191Gln)

SNV
Germline

Chr9:35065255

Pathogenic/Likely pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Charcot-Marie-Tooth disease type 2Y
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA254406

rs_121909334

13 SubmittersRCV000008994 RCV000023064 RCV000516636 RCV000555373 RCV002496309

NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)

SNV
Germline

Chr11:68934466

Pathogenic

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA254642

rs_137852665

7 SubmittersRCV000235520 RCV000235071 RCV000693255 RCV004018607 RCV004799738

NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)

SNV
Germline

Chr11:68911530

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA254644

rs_137852666

6 SubmittersRCV000664227 RCV001095539 RCV003488333 RCV003764541

NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)

SNV
Germline

Chr11:68935404

Pathogenic/Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254646

rs_137852667

7 SubmittersRCV000535929 RCV000664209 RCV001813969 RCV003114179

NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)

SNV
Germline

Chr11:68906103

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA254648

rs_137852668

2 SubmittersRCV000009685 RCV003764542

NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)

SNV
Germline

Chr11:68911599

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA254652

rs_137852669

3 SubmittersRCV000009687 RCV001807723

NM_002180.3(IGHMBP2):c.2611+1G>T

SNV
Germline

Chr11:68937092

Pathogenic/Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Neuronopathy, distal hereditary motor, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA254655

rs_786205090

4 SubmittersRCV000009688 RCV000598811 RCV000528403 RCV000789975

NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)

SNV
Germline

Chr7:30609729

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2D
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA254704

rs_137852643

8 SubmittersRCV000009782 RCV000327196 RCV000692132 RCV000789142 RCV004018608

NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)

SNV
Germline

Chr7:30601179

Pathogenic

Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2D

Criteria Provided
Single Submitter

CA254706

rs_137852644

5 SubmittersRCV000009783 RCV000857175 RCV001310958 RCV003332077

NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)

SNV
Germline

Chr7:30599996

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 5A

No Assertion Criteria Provided

CA254708

rs_137852645

4 SubmittersRCV000009784 RCV000790253 RCV001260976

NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)

SNV
Germline

Chr7:30628598

Pathogenic

Neuronopathy, distal hereditary motor, type 5A
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA254710

rs_137852646

5 SubmittersRCV000009786 RCV000790258 RCV001542258 RCV002228024

NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)

SNV
Germline

Chr7:30626280

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA254712

rs_137852647

7 SubmittersRCV000009787 RCV000009788 RCV000790257 RCV001161100 RCV005055510

NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)

SNV
Germline

Chr7:30612107

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D

No Assertion Criteria Provided

CA254714

rs_137852648

3 SubmittersRCV000009789

NC_012920.1(MT-ATP6):m.9185T>C

SNV
Germline

ChrMT:9185

Pathogenic

Leigh syndrome
Charcot-Marie-Tooth disease
Mitochondrial disease
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Leber optic atrophy
Condition: not provided
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Charcot-Marie-Tooth disease, type IA
NARP syndrome
Primary mitochondrial disorders

Reviewed By Expert Panel

CA340928

rs_199476138

18 SubmittersRCV000010282 RCV000240612 RCV000495689 RCV000754648 RCV001542709 RCV001267926 RCV002267606 RCV003224857 RCV004760325 RCV006555303

NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)

SNV
Germline

ChrX:107639301

Pathogenic

Charcot-Marie-Tooth disease X-linked recessive 5

No Assertion Criteria Provided

CA340958

rs_80338731

2 SubmittersRCV000010612

NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)

SNV
Germline

ChrX:107640939

Likely pathogenic

Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA340960

rs_80338732

4 SubmittersRCV000010613 RCV000695028

NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)

SNV
Germline

ChrX:71224131

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA255229

rs_104894810

8 SubmittersRCV000011176 RCV000236641 RCV000474456

NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)

SNV
Germline

ChrX:71224221

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255232

rs_104894811

4 SubmittersRCV000011177 RCV001053029 RCV001090308

NM_000166.6(GJB1):c.415G>A (p.Val139Met)

SNV
Germline

ChrX:71224122

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340967

rs_104894812

11 SubmittersRCV000011178 RCV000545060 RCV000789810 RCV002326673 RCV002274895

NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)

SNV
Germline

ChrX:71224104

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA255235

rs_104894813

1 SubmittersRCV000011179

NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)

SNV
Germline

ChrX:71224365

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA255238

rs_104894814

12 SubmittersRCV000011180 RCV000236998 RCV000466155 RCV002362576

NM_000166.6(GJB1):c.89T>A (p.Ile30Asn)

SNV
Germline

ChrX:71223796

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA255242

rs_104894817

1 SubmittersRCV000011181

NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)

SNV
Germline

ChrX:71224174

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA255245

rs_104894818

5 SubmittersRCV000011182 RCV000463876 RCV000256065 RCV002326674

NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)

SNV
Germline

ChrX:71223901

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255248

rs_104894819

3 SubmittersRCV000011183 RCV001245963 RCV001659691

NM_000166.6(GJB1):c.37G>T (p.Val13Leu)

SNV
Germline

ChrX:71223744

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA255251

rs_104894820

1 SubmittersRCV000011184

NM_000166.6(GJB1):c.283G>A (p.Val95Met)

SNV
Germline

ChrX:71223990

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA255254

rs_104894821

11 SubmittersRCV000011186 RCV000168221 RCV000235924 RCV000789817 RCV002433451

NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)

SNV
Germline

ChrX:71224321

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA340970

rs_104894822

7 SubmittersRCV000011187 RCV000991856 RCV000537008

NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)

SNV
Germline

ChrX:71223961

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA255257

rs_104894823

3 SubmittersRCV000011189 RCV000789235 RCV005420515

NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)

SNV
Germline

ChrX:71223871

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA340973

rs_104894824

7 SubmittersRCV000011191 RCV000486043 RCV000789872 RCV001851787

NM_001097642.3(GJB1):c.-16-511G>C

SNV
Germline

ChrX:71223181

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA2499226831

rs_2147944334

1 SubmittersRCV000011194

NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)

SNV
Germline

ChrX:71224411

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 1
not specified
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA340976

rs_104894825

11 SubmittersRCV000011195 RCV000344288 RCV000467010 RCV001271691 RCV001711068 RCV002362577

NM_000166.6(GJB1):c.407T>C (p.Val136Ala)

SNV
Germline

ChrX:71224114

Pathogenic

Dejerine-Sottas disease
Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA121071

rs_104894826

2 SubmittersRCV000011197 RCV000011196

NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)

SNV
Germline

ChrX:78029314

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Charcot-Marie-Tooth disease
Menkes kinky-hair syndrome

No Assertion Criteria Provided

CA256075

rs_267606673

3 SubmittersRCV000012561 RCV000789727 RCV001696175

NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)

SNV
Germline

ChrX:78045502

Pathogenic

X-linked distal spinal muscular atrophy type 3
Charcot-Marie-Tooth disease
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome

Criteria Provided
Single Submitter

CA256077

rs_267606672

4 SubmittersRCV000012562 RCV000789728 RCV001206423 RCV001696176

NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys)

SNV
Germline

Chr1:156873858

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA256294

rs_121964869

2 SubmittersRCV000013104 RCV000789504

NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr9:133352446

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Mitochondrial disease
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA122692

rs_121918657

6 SubmittersRCV000013599 RCV000589222 RCV000599426 RCV003314553 RCV005042037

NM_000371.4(TTR):c.148G>A (p.Val50Met)

SNV
Germline

Chr18:31592974

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
Carpal tunnel syndrome 1
Hyperthyroxinemia, dystransthyretinemic
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
TTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256790

rs_28933979

40 SubmittersRCV000014359 RCV000159423 RCV000770555 RCV001173292 RCV002476964 RCV002390106 RCV004549361

NM_000371.4(TTR):c.238A>G (p.Thr80Ala)

SNV
Germline

Chr18:31595157

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256798

rs_121918070

16 SubmittersRCV000014363 RCV000159427 RCV000852477 RCV001173293 RCV002453258

NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)

SNV
Germline

Chr18:31595209

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Hyperthyroxinemia, dystransthyretinemic
Carpal tunnel syndrome 1
Amyloidosis, hereditary systemic 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256800

rs_121918071

9 SubmittersRCV000014364 RCV000519257 RCV001173289 RCV002433454 RCV002504783

NM_000371.4(TTR):c.424G>A (p.Val142Ile)

SNV
Germline

Chr18:31598655

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
ATTRV122I amyloidosis
Charcot-Marie-Tooth disease
Carpal tunnel syndrome 1
Hyperthyroxinemia, dystransthyretinemic
Amyloidosis, hereditary systemic 1
Tip-toe gait
TTR-related disorder
Amyloidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA214382

rs_76992529

51 SubmittersRCV000014368 RCV000078674 RCV000211747 RCV000243161 RCV000853387 RCV001173290 RCV002476965 RCV003319166 RCV003335038 RCV004798727

NM_000371.4(TTR):c.328C>A (p.His110Asn)

SNV
Germline

Chr18:31595247

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
not specified
Cardiovascular phenotype
Condition: not provided
Heart failure
Cardiomyopathy
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA179461

rs_121918074

19 SubmittersRCV000014369 RCV000152541 RCV000621211 RCV000857889 RCV000852746 RCV000770556 RCV001173306

NM_000371.4(TTR):c.416C>T (p.Thr139Met)

SNV
Germline

Chr18:31598647

Conflicting classifications of pathogenicity

AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF
not specified
Cardiovascular phenotype
Condition: not provided
Amyloidosis, hereditary systemic 1
Charcot-Marie-Tooth disease
Cardiomyopathy
Hyperthyroxinemia, dystransthyretinemic
Hyperthyroidism

Criteria Provided
Conflicting Classifications

CA123101

rs_28933981

14 SubmittersRCV000014376 RCV000036376 RCV000618448 RCV000714134 RCV000990084 RCV001173303 RCV001170385 RCV003993656 RCV006439569

NM_000371.4(TTR):c.148G>C (p.Val50Leu)

SNV
Germline

Chr18:31592974

Pathogenic

Amyloidosis, hereditary systemic 1
Charcot-Marie-Tooth disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256825

rs_28933979

4 SubmittersRCV000014382 RCV001173291 RCV002390107

NM_000371.4(TTR):c.371G>A (p.Arg124His)

SNV
Germline

Chr18:31598602

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA179467

rs_121918095

14 SubmittersRCV000014400 RCV000152543 RCV000586735 RCV000621591 RCV001170383 RCV001173296

NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)

SNV
Germline

Chr8:24955521

Pathogenic

Charcot-Marie-Tooth disease type 2E
Condition: not provided

Criteria Provided
Single Submitter

CA217588

rs_59443585

3 SubmittersRCV000015072 RCV000057151

NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)

SNV
Germline

Chr8:24956452

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2E
Condition: not provided
Charcot-Marie-Tooth disease type 1C
Peripheral neuropathy
Pes cavus
Distal lower limb muscle weakness
Decreased nerve conduction velocity
Peripheral neuropathy
Distal muscle weakness
Peripheral demyelination
Hand muscle atrophy
Charcot-Marie-Tooth disease type 1F
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA217568

rs_28928910

7 SubmittersRCV000015073 RCV000057144 RCV000194357 RCV000415401 RCV000414916 RCV001196666 RCV002362585

NM_006158.5(NEFL):c.281T>C (p.Leu94Pro)

SNV
Germline

Chr8:24956235

Pathogenic

Charcot-Marie-Tooth disease type 2E
Condition: not provided

No Assertion Criteria Provided

CA217544

rs_62636505

2 SubmittersRCV000015078 RCV000057135

NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)

SNV
Germline

Chr8:24956098

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 1F

No Assertion Criteria Provided

CA217549

rs_121913663

2 SubmittersRCV000057137 RCV000015079

NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)

SNV
Germline

Chr1:161306870

Pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA257142

rs_121913583

3 SubmittersRCV000015229 RCV000812845 RCV000789440

NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)

SNV
Germline

Chr1:161306886

Pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA257144

rs_121913584

4 SubmittersRCV000015230 RCV000704216 RCV000789441

NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)

SNV
Germline

Chr1:161307304

Pathogenic

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA123796

rs_121913585

5 SubmittersRCV000015232 RCV000390750 RCV000789439 RCV000803240

NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)

SNV
Germline

Chr1:161306414

Pathogenic

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Dejerine-Sottas disease
7 conditions
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA123798

rs_121913586

5 SubmittersRCV000015233 RCV000032123 RCV000198029 RCV001851867

NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)

SNV
Germline

Chr1:161306752

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Condition: not provided
Charcot-Marie-Tooth disease, type I
MPZ-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257146

rs_121913587

4 SubmittersRCV000015235 RCV000425572 RCV005089261 RCV005867759

NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)

SNV
Germline

Chr1:161306747

Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257148

rs_121913588

3 SubmittersRCV000015236 RCV000462311 RCV000712317

NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)

SNV
Germline

Chr1:161306863

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA257150

rs_121913589

6 SubmittersRCV000015237 RCV000638160 RCV000790115 RCV001811142 RCV002433456

NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)

SNV
Germline

Chr1:161306864

Pathogenic

Charcot-Marie-Tooth disease type 1B
Condition: not provided
Charcot-Marie-Tooth disease, type I
Neuropathy, congenital hypomyelinating, 2
Autosomal dominant MPZ-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA257152

rs_121913590

10 SubmittersRCV000015238 RCV000237048 RCV000548074 RCV005410885 RCV006554440

NM_000530.8(MPZ):c.293G>A (p.Arg98His)

SNV
Germline

Chr1:161306863

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Condition: not provided
Decreased nerve conduction velocity
Pes cavus
Sensory neuropathy
Distal lower limb amyotrophy
Distal muscle weakness
Charcot-Marie-Tooth disease
Inborn genetic diseases
MPZ-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257154

rs_121913589

13 SubmittersRCV000015239 RCV000196172 RCV000376287 RCV000415463 RCV001173692 RCV002433457 RCV004528112

NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)

SNV
Germline

Chr1:161307304

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA257156

rs_121913585

3 SubmittersRCV000015240 RCV001173697 RCV001224917

NM_000530.8(MPZ):c.242A>G (p.His81Arg)

SNV
Germline

Chr1:161306914

Pathogenic

Charcot-Marie-Tooth disease type 1B
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2I

Criteria Provided
Multiple Submitters
No Conflicts

CA341323

rs_121913594

6 SubmittersRCV000015242 RCV000518134 RCV000789479 RCV001385507 RCV004795414

NM_000530.8(MPZ):c.341T>C (p.Ile114Thr)

SNV
Germline

Chr1:161306815

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351444

rs_267607241

3 SubmittersRCV000541724 RCV000789491 RCV001508018

NM_000530.8(MPZ):c.371C>T (p.Thr124Met)

SNV
Germline

Chr1:161306785

Pathogenic

Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease, type I
7 conditions
Charcot-Marie-Tooth disease dominant intermediate D
Distal hereditary motor neuropathy type 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA257158

rs_121913595

13 SubmittersRCV000015244 RCV000015245 RCV000192248 RCV000517355 RCV000638155 RCV000763262 RCV001262744 RCV002245981 RCV002345245

NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)

SNV
Germline

Chr1:161307389

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250638

rs_121913596

4 SubmittersRCV000015247 RCV000638171 RCV001173698 RCV001552371

NM_000530.8(MPZ):c.224A>T (p.Asp75Val)

SNV
Germline

Chr1:161307268

Pathogenic

Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA257160

rs_121913597

3 SubmittersRCV000015248 RCV000190346 RCV001070451

NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)

SNV
Germline

Chr1:161307361

Pathogenic

Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA257162

rs_121913598

9 SubmittersRCV000015249 RCV000190345 RCV000638152 RCV000790099 RCV001093014 RCV002381251

NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)

SNV
Germline

Chr1:161306763

Pathogenic

Roussy-Lévy syndrome
Charcot-Marie-Tooth disease type 1B
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA123803

rs_121913599

4 SubmittersRCV000015250 RCV000192587 RCV000517209 RCV001060346

NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)

SNV
Germline

Chr1:161306848

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA257164

rs_121913600

4 SubmittersRCV000015251 RCV000536804 RCV001818160 RCV002321483

NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)

SNV
Germline

Chr1:161307259

Pathogenic/Likely pathogenic

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Hereditary neuropathy or pain disorder
MPZ-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA123805

rs_121913601

10 SubmittersRCV000015252 RCV000436362 RCV000546842 RCV001173691 RCV005865182 RCV005867760

NM_000530.8(MPZ):c.184A>T (p.Ile62Phe)

SNV
Germline

Chr1:161307308

Pathogenic

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
Condition: not provided

Criteria Provided
Single Submitter

CA123807

rs_121913602

2 SubmittersRCV000015253 RCV005420516

NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)

SNV
Germline

Chr1:161306722

Pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Condition: not provided
7 conditions
MPZ-related disorder
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Neuropathy, congenital hypomyelinating, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA257166

rs_121913603

8 SubmittersRCV000015255 RCV000234112 RCV000235936 RCV000763260 RCV004528113 RCV005862719

NM_000530.8(MPZ):c.178G>C (p.Asp60His)

SNV
Germline

Chr1:161307314

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA257168

rs_121913604

3 SubmittersRCV000015257 RCV002226649 RCV002514101

NM_000530.8(MPZ):c.186C>G (p.Ile62Met)

SNV
Germline

Chr1:161307306

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease, type I
Roussy-Lévy syndrome
Tip-toe gait
Condition: not provided

Criteria Provided
Conflicting Classifications

CA257170

rs_121913605

7 SubmittersRCV000015258 RCV000799870 RCV001196641 RCV003318543 RCV003736538

NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)

SNV
Germline

Chr1:161306789

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA257174

rs_121913608

2 SubmittersRCV000015262 RCV000790090

NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)

SNV
Germline

Chr1:161306843

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2J
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA257177

rs_121913609

3 SubmittersRCV000015263 RCV000223657 RCV001308867

NM_000530.8(MPZ):c.276G>A (p.Val92=)

SNV
Germline

Chr1:161306880

Pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA421405275

rs_1558154193

3 SubmittersRCV000015264 RCV000790070 RCV000795131

NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)

SNV
Germline

Chr1:156136413

Pathogenic/Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Muscular dystrophy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Abnormality of the musculature
Congenital muscular dystrophy due to LMNA mutation
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017033

rs_58932704

22 SubmittersRCV000015565 RCV000057273 RCV000500734 RCV000472112 RCV001095717 RCV001813989 RCV003313922 RCV004639121

NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)

SNV
Germline/somatic

Chr1:156137204

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017498

rs_57520892

8 SubmittersRCV000015569 RCV000015570 RCV000057327 RCV000700159 RCV001375641 RCV004018633

NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)

SNV
Germline

Chr1:156134474

Pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018275

rs_28933091

7 SubmittersRCV000015572 RCV000057425 RCV000211789 RCV000794743 RCV005589769

NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)

SNV
Germline

Chr1:156134497

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018298

rs_28933092

5 SubmittersRCV000015573 RCV000057428 RCV000211791 RCV003581565

NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)

SNV
Germline

Chr1:156137756

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017694

rs_80338938

11 SubmittersRCV000015574 RCV000057044 RCV000705473 RCV001189216 RCV003993745 RCV004018634

NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)

SNV
Germline

Chr1:156136985

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Laminopathy
Condition: not provided
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
11 conditions
Cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder
Lipodystrophy - childhood onset
7 conditions

Criteria Provided
Conflicting Classifications

CA014814

rs_11575937

22 SubmittersRCV000015575 RCV000041318 RCV000057299 RCV000190399 RCV000459624 RCV000754814 RCV000763258 RCV001179839 RCV001822996 RCV002390111 RCV004806012 RCV004532361 RCV006629059 RCV005862720

NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)

SNV
Germline

Chr1:156137203

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Hutchinson-Gilford syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A

Criteria Provided
Conflicting Classifications

CA017487

rs_57318642

11 SubmittersRCV000015576 RCV000057324 RCV000192011 RCV001185736 RCV001223656 RCV002288492 RCV003996098 RCV003319169

NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)

SNV
Germline

Chr1:156130658

Pathogenic

Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford progeria syndrome, childhood-onset
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018044

rs_60864230

3 SubmittersRCV000015577 RCV000015578 RCV000057399 RCV001387326

NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr1:156136984

Pathogenic/Likely pathogenic

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Familial partial lipodystrophy
Cardiovascular phenotype
11 conditions
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA017258

rs_57920071

13 SubmittersRCV000015579 RCV000057298 RCV001235764 RCV001174239 RCV001248961 RCV002390112 RCV002482872 RCV004532362

NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)

SNV
Germline

Chr1:156136934

Pathogenic/Likely pathogenic

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017164

rs_61282106

4 SubmittersRCV000015584 RCV000057287 RCV001851878

NM_170707.4(LMNA):c.1745G>A (p.Arg582His)

SNV
Germline

Chr1:156138534

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
LMNA-related disorder
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA020309

rs_57830985

9 SubmittersRCV000015585 RCV000057353 RCV001068657 RCV001804734 RCV002399327 RCV004532363 RCV003996099 RCV004795416

NM_170707.4(LMNA):c.1130G>A (p.Arg377His)

SNV
Germline

Chr1:156136094

Pathogenic

Condition: not provided
Muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2
Sudden unexplained death
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016651

rs_61672878

12 SubmittersRCV000057235 RCV000503996 RCV000681569 RCV000547164 RCV001089610 RCV002321484 RCV003319170 RCV005859465 RCV005042056

NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)

SNV
Germline

Chr1:156135268

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B1
Condition: not provided
Charcot-Marie-Tooth disease type 2
Autosomal recessive axonal hereditary motor and sensory neuropathy
Hutchinson-Gilford syndrome
Cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA018809

rs_59885338

22 SubmittersRCV000015590 RCV000057479 RCV000653885 RCV000826146 RCV000986429 RCV001176301 RCV002467495 RCV003162253 RCV003996100 RCV005042057

NM_170707.4(LMNA):c.1580G>A (p.Arg527His)

SNV
Germline

Chr1:156137204

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy, atypical
Condition: not provided
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA014822

rs_57520892

16 SubmittersRCV000015592 RCV000057326 RCV000015591 RCV000148607 RCV000555364 RCV001178367 RCV001174240 RCV002399328 RCV003996101 RCV005042058

NM_170707.4(LMNA):c.1824C>T (p.Gly608=)

SNV
Germline

Chr1:156138613

Pathogenic

Hutchinson-Gilford syndrome
Condition: not provided
Hutchinson-Gilford syndrome
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Restrictive dermopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015291

rs_58596362

11 SubmittersRCV000015593 RCV000057364 RCV000150957 RCV000806737 RCV001847608

NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)

SNV
Germline

Chr1:156136951

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy, atypical
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017213

rs_28928902

9 SubmittersRCV000015597 RCV000057293 RCV001246687 RCV005582255

NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)

SNV
Germline

Chr1:156130741

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018140

rs_28933093

19 SubmittersRCV000015598 RCV000057409 RCV000211788 RCV000687241 RCV001170451 RCV003318333 RCV004018635

NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)

SNV
Germline

Chr1:156130658

Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018038

rs_60864230

3 SubmittersRCV000015602 RCV000057398 RCV000686691

NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)

SNV
Germline

Chr1:156134942

Pathogenic/Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018615

rs_58048078

6 SubmittersRCV000015605 RCV000057457 RCV005089263

NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)

SNV
Germline

Chr1:156138507

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy, atypical
Familial partial lipodystrophy, Dunnigan type
not specified
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Familial partial lipodystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
11 conditions

Criteria Provided
Conflicting Classifications

CA020299

rs_60890628

23 SubmittersRCV000015612 RCV000015613 RCV000015614 RCV000041329 RCV000057351 RCV000617932 RCV000653881 RCV001188887 RCV001248900 RCV002221478 RCV002509159 RCV005042059

NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)

SNV
Germline

Chr1:156136251

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA016847

rs_58672172

10 SubmittersRCV000015616 RCV000057255 RCV000653937 RCV001188431 RCV001174241 RCV001257937 RCV002336085 RCV005042060

NM_170707.4(LMNA):c.1318G>A (p.Val440Met)

SNV
Germline

Chr1:156136374

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy, atypical
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA016999

rs_121912493

10 SubmittersRCV000015617 RCV000057268 RCV000552191 RCV001172618 RCV001264435 RCV001186220 RCV002381252 RCV003996102 RCV005049339

NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)

SNV
Germline

Chr1:156134910

Pathogenic/Likely pathogenic

Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Charcot-Marie-Tooth disease type 2
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA018559

rs_121912496

11 SubmittersRCV000015621 RCV000057452 RCV000814531 RCV005229797

NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)

SNV
Germline

Chr1:156136036

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Charcot-Marie-Tooth disease type 2
Muscular dystrophy
Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA016555

rs_60458016

12 SubmittersRCV000015622 RCV000015623 RCV000057227 RCV000470514 RCV000502108 RCV001420791

NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)

SNV
Germline

Chr1:156138719

Conflicting classifications of pathogenicity

Variant of unknown significance
Condition: not provided
not specified
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
Familial partial lipodystrophy, Dunnigan type
LMNA-related disorder
11 conditions

Criteria Provided
Conflicting Classifications

CA014882

rs_142000963

27 SubmittersRCV000015626 RCV000057374 RCV000041340 RCV000148602 RCV000144868 RCV000245284 RCV000755679 RCV000771143 RCV001084244 RCV001174411 RCV002467497 RCV004528114 RCV003224100

NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)

SNV
Germline

Chr2:27313031

Pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Mitochondrial DNA depletion syndrome
Charcot-Marie-Tooth disease, axonal, type 2EE
MPV17-related disorder
Mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341380

rs_121909721

11 SubmittersRCV000017543 RCV000712314 RCV002509162 RCV003466861 RCV004732550 RCV004786268

NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)

SNV
Germline

Chr2:27313032

Pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341382

rs_121909723

10 SubmittersRCV000017545 RCV000264441 RCV003227464 RCV003473105 RCV005025062 RCV006451898

NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)

SNV
Germline

Chr2:27312510

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341383

rs_121909724

5 SubmittersRCV000017547 RCV001851891 RCV003466862 RCV005406748

NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)

SNV
Germline

Chr10:62813835

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 1D

No Assertion Criteria Provided

CA126843

rs_104894158

3 SubmittersRCV000031897 RCV003447083

NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)

SNV
Germline

Chr10:62813413

Pathogenic

Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341431

rs_104894159

5 SubmittersRCV000018234 RCV001049422 RCV003482227

NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)

SNV
Germline

Chr10:62813563

Pathogenic

Dejerine-sottas neuropathy, autosomal dominant
Charcot-Marie-Tooth disease type 1D
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA126845

rs_104894161

9 SubmittersRCV000018236 RCV000018237 RCV000032120 RCV000231023 RCV000498897 RCV000856959

NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)

SNV
Germline

Chr10:62813404

Pathogenic

Dejerine-sottas neuropathy, autosomal dominant
Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease

Criteria Provided
Single Submitter

CA126847

rs_121434563

3 SubmittersRCV000018238 RCV001233037 RCV003447084

NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg)

SNV
Germline

Chr12:109784378

Likely pathogenic

Metatropic dysplasia
Neuromuscular disease
Skeletal dysplasia
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA117191

rs_121912637

3 SubmittersRCV000005300 RCV000202509 RCV005089285

NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)

SNV
Germline

Chr12:109800639

Pathogenic

Spondylometaphyseal dysplasia, Kozlowski type
Neuromuscular disease
Skeletal dysplasia
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA117193

rs_267607148

3 SubmittersRCV000005302 RCV000202563 RCV000805229

NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)

SNV
Germline

Chr12:109784385

Pathogenic

Spondyloepimetaphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Neuromuscular disease
Skeletal dysplasia
Brachyrachia (short spine dysplasia)
Condition: not provided
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA117195

rs_267607149

7 SubmittersRCV000005304 RCV000005303 RCV000023424 RCV000202566 RCV001331193 RCV001549550 RCV001823100 RCV001851964

NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys)

SNV
Germline

Chr12:109808308

Likely pathogenic

Spondyloepimetaphyseal dysplasia, Maroteaux type
Skeletal dysplasia
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA117197

rs_387906324

3 SubmittersRCV000005306 RCV000202438 RCV001851965

NM_000166.6(GJB1):c.187G>A (p.Val63Ile)

SNV
Germline

ChrX:71223894

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Hereditary neuropathy or pain disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341598

rs_116840818

12 SubmittersRCV000020171 RCV000217618 RCV000789665 RCV001064548 RCV006629064

NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)

SNV
Germline

ChrX:71223930

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA341601

rs_116840819

9 SubmittersRCV000020172 RCV000236563 RCV000654844 RCV000789309 RCV002426512

NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)

SNV
Germline

ChrX:71223750

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA333982

rs_116840815

9 SubmittersRCV000020174 RCV000167902 RCV000236824 RCV000789234

NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)

SNV
Germline

ChrX:71224243

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA341605

rs_116840822

3 SubmittersRCV000020175 RCV000789199 RCV000220506

NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)

SNV
Germline

ChrX:71224263

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA341609

rs_116840821

13 SubmittersRCV000020176 RCV000654837 RCV000789812 RCV001815168 RCV002345250

NM_001034850.3(RETREG1):c.873+2T>C

SNV
Germline

Chr5:16478032

Pathogenic

Charcot-Marie-Tooth disease
Neuropathy, hereditary sensory and autonomic, type 2B
Hereditary sensory and autonomic neuropathy type 2
Condition: not provided

Criteria Provided
Single Submitter

CA341808

rs_137852738

4 SubmittersRCV000789099 RCV001843421 RCV003447086 RCV004719655

NM_002693.3(POLG):c.970C>T (p.Pro324Ser)

SNV
Germline

Chr15:89328996

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder
Inborn genetic diseases
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA292863

rs_2307437

18 SubmittersRCV000127555 RCV000468571 RCV000710190 RCV001121509 RCV002371780 RCV001847613 RCV005624701

NM_024577.4(SH3TC2):c.1178-1G>A

SNV
Germline

Chr5:149028555

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA342371

rs_80338922

3 SubmittersRCV000020886 RCV000789563 RCV005042074

NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)

SNV
Germline

Chr5:149027763

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339774

rs_80338925

10 SubmittersRCV000020887 RCV000206757 RCV000857147 RCV002496432 RCV004786278

NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)

SNV
Germline

Chr5:149027760

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342372

rs_80338926

13 SubmittersRCV000020888 RCV000236498 RCV000654080 RCV001173151 RCV001270096 RCV002490399 RCV002415424 RCV006261942

NM_024577.4(SH3TC2):c.2642A>T (p.Asn881Ile)

SNV
Germline

Chr5:149027090

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA342380

rs_80338930

2 SubmittersRCV000789693 RCV006461192

NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)

SNV
Germline

Chr5:149027022

Pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA339763

rs_80338931

7 SubmittersRCV000020894 RCV000205920 RCV002292457 RCV005042075

NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)

SNV
Germline

Chr5:149006955

Pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA342388

rs_80338937

2 SubmittersRCV000020898

NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)

SNV
Germline

Chr5:149038376

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA342391

rs_80338921

2 SubmittersRCV000789562 RCV001851980

NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)

SNV
Germline

Chr1:161306774

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA351448

rs_267607243

2 SubmittersRCV000790098 RCV000813380

NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)

SNV
Germline

Chr9:132327718

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA027386

rs_267607044

3 SubmittersRCV000790202 RCV001755758 RCV005222984

NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)

SNV
Germline

Chr19:10155017

Pathogenic/Likely pathogenic

Hereditary sensory neuropathy-deafness-dementia syndrome
Condition: not provided
Charcot-Marie-Tooth disease
Autosomal dominant cerebellar ataxia, deafness and narcolepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA259618

rs_199473690

8 SubmittersRCV000022529 RCV000236669 RCV000789093 RCV002283444

NM_006158.5(NEFL):c.628G>T (p.Glu210Ter)

SNV
Germline

Chr8:24955888

Pathogenic

Charcot-Marie-Tooth disease type 1F

No Assertion Criteria Provided

CA259657

rs_199422214

1 SubmittersRCV000022674

NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)

SNV
Germline

Chr14:101980506

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144804

rs_387906738

8 SubmittersRCV000022929 RCV000055662 RCV000192255 RCV001091151

NM_001376.5(DYNC1H1):c.11465A>C (p.His3822Pro)

SNV
Germline

Chr14:102039416

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

No Assertion Criteria Provided

CA128841

rs_387906739

2 SubmittersRCV000022930 RCV003447090

NM_001376.5(DYNC1H1):c.4552G>A (p.Glu1518Lys)

SNV
Germline

Chr14:102002546

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

No Assertion Criteria Provided

CA128842

rs_387906740

2 SubmittersRCV000022931 RCV003447091

NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu)

SNV
Germline

Chr14:101985975

Conflicting classifications of pathogenicity

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Neuronopathy, distal hereditary motor, autosomal dominant
Charcot-Marie-Tooth disease axonal type 2O

No Assertion Criteria Provided

CA128843

rs_387906741

3 SubmittersRCV000022932 RCV000789730 RCV003447092

NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys)

SNV
Germline

Chr14:101991567

Likely pathogenic

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Single Submitter

CA128845

rs_387906743

3 SubmittersRCV000022934 RCV003447094 RCV006255321

NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr)

SNV
Germline

Chr16:70277088

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N

No Assertion Criteria Provided

CA259750

rs_387906792

2 SubmittersRCV000023068

NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)

SNV
Germline

Chr15:34233934

Pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA259813

rs_606231229

5 SubmittersRCV000023393 RCV000790222

NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)

SNV
Germline

Chr12:109793560

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C
Neuromuscular disease
Skeletal dysplasia

Criteria Provided
Single Submitter

CA259819

rs_387906902

3 SubmittersRCV000023426 RCV000202508

NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)

SNV
Germline

Chr12:109803009

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Condition: not provided
Neuromuscular disease
Skeletal dysplasia
Neuronopathy, distal hereditary motor, autosomal dominant
Charcot-Marie-Tooth disease
Spondylometaphyseal dysplasia, Kozlowski type

Criteria Provided
Multiple Submitters
No Conflicts

CA204953

rs_387906904

12 SubmittersRCV000023429 RCV000190886 RCV000236017 RCV000202445 RCV000789594 RCV001172888 RCV001542600

NM_021625.5(TRPV4):c.947G>A (p.Arg316His)

SNV
Germline

Chr12:109798819

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C
Neuromuscular disease
Clubfoot
Lower limb amyotrophy
EMG abnormality
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA259821

rs_387906905

10 SubmittersRCV000023430 RCV000202476 RCV000415397 RCV000497541 RCV000856932

NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys)

SNV
Germline

Chr14:50623194

Pathogenic

Neuropathy, hereditary sensory, type 1D
Osteomyelitis leading to amputation due to slow healing fractures
Penetrating foot ulcers
Distal sensory impairment
Distal lower limb muscle weakness
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA389674137

rs_1555365597

3 SubmittersRCV000023542 RCV000626932 RCV000789726

NM_014874.4(MFN2):c.1392+2T>C

SNV
Germline

Chr1:12004615

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA259899

rs_111723244

2 SubmittersRCV000023713 RCV000789373

NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)

SNV
Germline

Chr1:11998817

Pathogenic

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA129420

rs_387906990

4 SubmittersRCV000023714 RCV000235670 RCV000456775

NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)

SNV
Germline

Chr1:12002028

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided
MFN2-related disorder
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA129423

rs_387906991

12 SubmittersRCV000023716 RCV000240513 RCV000857102 RCV001198485 RCV001388766 RCV002415428 RCV002472935 RCV005867795 RCV005409608

NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)

SNV
Germline

Chr17:42543700

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Sanfilippo syndrome
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA129472

rs_104894598

11 SubmittersRCV000023780 RCV000433629 RCV000590258 RCV001043861

NM_001005373.4(LRSAM1):c.1914G>A (p.Glu638=)

SNV
Germline

Chr9:127501011

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

No Assertion Criteria Provided

CA259920

rs_387907032

1 SubmittersRCV000023844

NM_022489.4(INF2):c.310T>C (p.Cys104Arg)

SNV
Germline

Chr14:104701675

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA129509

rs_387907034

4 SubmittersRCV000023849 RCV003488347 RCV003764633

NM_022489.4(INF2):c.311G>T (p.Cys104Phe)

SNV
Germline

Chr14:104701676

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate E

No Assertion Criteria Provided

CA129510

rs_387907035

1 SubmittersRCV000023850

NM_022489.4(INF2):c.312C>G (p.Cys104Trp)

SNV
Germline

Chr14:104701677

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA129511

rs_387907036

2 SubmittersRCV000023851 RCV001228020

NM_022489.4(INF2):c.383T>C (p.Leu128Pro)

SNV
Germline

Chr14:104701748

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA129512

rs_387907037

4 SubmittersRCV000023852 RCV000235466 RCV001378421 RCV002362594

NM_022489.4(INF2):c.395T>G (p.Leu132Arg)

SNV
Germline

Chr14:104703108

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate E

No Assertion Criteria Provided

CA129513

rs_387907038

1 SubmittersRCV000023853

NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)

SNV
Germline

Chr12:106457147

Conflicting classifications of pathogenicity

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Condition: not provided
POLR-related leukodystrophy
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
POLR3B-related disorder

Criteria Provided
Conflicting Classifications

CA342786

rs_267608687

11 SubmittersRCV000024157 RCV001731314 RCV004760342 RCV005409609 RCV004549387

NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)

SNV
Germline

Chr12:106432421

Pathogenic/Likely pathogenic

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Condition: not provided
Hypogonadotropic hypogonadism 7 with or without anosmia
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
POLR-related leukodystrophy
Hypogonadotropic hypogonadism
See cases
not specified
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
POLR3B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA343328

rs_138249161

31 SubmittersRCV000032280 RCV000442312 RCV000763295 RCV001095758 RCV001849282 RCV002251926 RCV002285009 RCV003334378 RCV004549388

NM_001371279.1(REEP1):c.304-2A>G

SNV
Germline

Chr2:86252072

Pathogenic

Neuronopathy, distal hereditary motor, type 5B
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA129967

rs_387907242

3 SubmittersRCV000029244 RCV000789557

NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)

SNV
Germline

Chr1:156135967

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Left ventricular noncompaction
Heart-hand syndrome, Slovenian type
Arrhythmogenic right ventricular cardiomyopathy
Laminopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A
11 conditions
Cardiomyopathy
Primary familial dilated cardiomyopathy
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA016426

rs_386134243

20 SubmittersRCV000030145 RCV000182368 RCV000546102 RCV000620788 RCV000845456 RCV000721960 RCV000852407 RCV000844672 RCV001196390 RCV002477025 RCV003149579 RCV003492303 RCV004532421

NM_170707.4(LMNA):c.1412G>A (p.Arg471His)

SNV
Germline

Chr1:156136952

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA017220

rs_267607578

18 SubmittersRCV000030148 RCV000057294 RCV000154177 RCV000621248 RCV000653872 RCV006547503

NM_000371.4(TTR):c.336+19G>A

SNV
Germline

Chr18:31595274

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
not specified
Condition: not provided
Charcot-Marie-Tooth disease
Cardiovascular phenotype
TTR-related disorder

Criteria Provided
Conflicting Classifications

CA235185

rs_75517067

13 SubmittersRCV000030573 RCV000244982 RCV000723872 RCV001173305 RCV002321492 RCV004549394

NM_002437.5(MPV17):c.186+2T>C

SNV
Germline

Chr2:27312992

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA319928

rs_147952488

7 SubmittersRCV000031903 RCV000195573 RCV003466880 RCV005025084 RCV005888841

NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)

SNV
Germline

Chr2:27312753

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MPV17-related mitochondrial DNA maintenance defect
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA342971

rs_267607261

5 SubmittersRCV000031904 RCV000735226 RCV001385322 RCV003227465 RCV003460535

NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)

SNV
Germline

Chr2:27312589

Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA342980

rs_267607257

3 SubmittersRCV002508895 RCV003111578 RCV003465776

NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)

SNV
Germline

Chr2:27312576

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
MPV17-related disorder
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome
Mitochondrial DNA maintenance disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA322609

rs_267607258

18 SubmittersRCV000031911 RCV000198122 RCV000312148 RCV000768420 RCV002504849 RCV003478980 RCV005867802

NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)

SNV
Germline

Chr8:74360173

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A

Criteria Provided
Multiple Submitters
No Conflicts

CA343058

rs_281865060

9 SubmittersRCV000031962 RCV000789791 RCV001092877 RCV003447095 RCV005042100

NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)

SNV
Germline

Chr12:32602217

Pathogenic

Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA343103

rs_63749871

5 SubmittersRCV000032001 RCV000695680 RCV000789104

NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)

SNV
Germline

Chr12:109808298

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C
Neuromuscular disease
Neuronopathy, distal hereditary motor, autosomal dominant 8
Condition: not provided
Inborn genetic diseases
TRPV4-Related Hereditary Motor And Sensory Neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA204955

rs_397514494

7 SubmittersRCV000032600 RCV000202485 RCV000190887 RCV000235384 RCV001265863 RCV006456633

NM_018706.7(DHTKD1):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:12069034

Conflicting classifications of pathogenicity

2-aminoadipic 2-oxoadipic aciduria
Charcot-Marie-Tooth disease type 2A2

No Assertion Criteria Provided

CA376011070

rs_1564385081

2 SubmittersRCV000032763 RCV003447098

NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)

SNV
Germline

Chr10:12112930

Conflicting classifications of pathogenicity

2-aminoadipic 2-oxoadipic aciduria
Condition: not provided
not specified
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2A2
Tip-toe gait
Inborn disorder of lysine and hydroxylysine metabolism
DHTKD1-related disorder

Criteria Provided
Conflicting Classifications

CA130360

rs_117225135

24 SubmittersRCV000032764 RCV000238689 RCV000791040 RCV002513307 RCV003447099 RCV003319173 RCV004017273 RCV004748541

NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)

SNV
Germline

Chr10:12094141

Pathogenic

2-aminoadipic 2-oxoadipic aciduria
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease axonal type 2Q

Criteria Provided
Multiple Submitters
No Conflicts

CA130362

rs_397514534

4 SubmittersRCV000032765 RCV003447100 RCV005229839

NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)

SNV
Germline

Chr10:12097780

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA130364

rs_606231237

3 SubmittersRCV000032766 RCV003447101

NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val)

SNV
Germline

ChrX:130131770

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked recessive 4

No Assertion Criteria Provided

CA261189

rs_281864468

2 SubmittersRCV000032801

NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)

SNV
Germline

Chr8:74364270

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease recessive intermediate A

Criteria Provided
Multiple Submitters
No Conflicts

CA130724

rs_397515432

5 SubmittersRCV000033148 RCV001055971 RCV003152669 RCV003447102 RCV005049398

NM_001358263.1(HK1):c.-270G>C

SNV
Germline

Chr10:69278711

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4G
Condition: not provided
Hemolytic anemia due to hexokinase deficiency

Criteria Provided
Conflicting Classifications

CA130786

rs_397514654

5 SubmittersRCV000033228 RCV002054534 RCV002247416

NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)

SNV
Germline

Chr10:62813562

Pathogenic

Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343871

rs_281865136

4 SubmittersRCV000033900 RCV000789743 RCV002514144

NM_000399.5(EGR2):c.1142G>A (p.Arg381His)

SNV
Germline

Chr10:62813496

Pathogenic

Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343874

rs_281865137

8 SubmittersRCV000033901 RCV000789745 RCV000701335 RCV002472942

NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)

SNV
Germline

Chr1:161307403

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343888

rs_281865121

4 SubmittersRCV000033911 RCV000789434 RCV001051613 RCV004719671

NM_000530.8(MPZ):c.241C>T (p.His81Tyr)

SNV
Germline

Chr1:161306915

Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343894

rs_281865123

4 SubmittersRCV000033913 RCV000789424 RCV003581567

NM_000530.8(MPZ):c.244T>C (p.Tyr82His)

SNV
Germline

Chr1:161306912

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease dominant intermediate D
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA343897

rs_281865124

8 SubmittersRCV000033914 RCV000693764 RCV000789426 RCV001699102 RCV003444056 RCV003335061 RCV003886367

NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)

SNV
Germline

Chr1:161306767

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1B
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA243183

rs_281865127

5 SubmittersRCV000033918 RCV000516461 RCV000819474

NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)

SNV
Germline

Chr1:161306426

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA339741

rs_281865128

12 SubmittersRCV000033919 RCV000205003 RCV000217802 RCV000789486 RCV002326719

NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)

SNV
Germline

Chr1:161305953

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343909

rs_267607247

6 SubmittersRCV000033921 RCV000700463 RCV000789431 RCV002362608 RCV005425707

NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)

SNV
Germline

Chr16:11553578

Pathogenic

Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA344230

rs_281865134

5 SubmittersRCV000034128 RCV000789997

NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)

SNV
Germline

Chr16:11549720

Pathogenic

Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA344234

rs_281865135

3 SubmittersRCV000034129 RCV000789996

NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)

SNV
Germline

Chr1:156134839

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided
Abnormality of the musculature
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA018437

rs_199474724

9 SubmittersRCV000034134 RCV000190400 RCV001178806 RCV001384595 RCV001781340 RCV001814022 RCV003996150 RCV005042105

NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)

SNV
Germline

Chr8:24956223

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1F
Condition: not provided
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E
Developmental disorder
Sensorineural hearing loss disorder
NEFL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA217547

rs_58982919

15 SubmittersRCV000034136 RCV000057136 RCV000554079 RCV000585792 RCV000857201 RCV001027680 RCV001843465 RCV005867811

NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)

SNV
Germline

Chr15:44651712

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344293

rs_312262723

7 SubmittersRCV000034170 RCV005007926

NM_025137.4(SPG11):c.1457-2A>G

SNV
Germline

Chr15:44649013

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Thymoma
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344297

rs_312262726

6 SubmittersRCV000034173 RCV001847631 RCV005888918 RCV005007927

NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)

SNV
Germline

Chr15:44628785

Pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344310

rs_199588440

11 SubmittersRCV000034185 RCV003317055 RCV004589527 RCV004767028

NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr15:44626429

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344312

rs_312262737

8 SubmittersRCV000034186 RCV000414282 RCV001807747

NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)

SNV
Germline

Chr15:44660607

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA277361

rs_312262709

11 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485 RCV005007929

NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)

SNV
Germline

Chr15:44620191

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344327

rs_312262748

3 SubmittersRCV000034199 RCV005007931

NM_025137.4(SPG11):c.2834+1G>T

SNV
Germline

Chr15:44620189

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA344329

rs_312262749

9 SubmittersRCV000034200 RCV001836722 RCV003458191 RCV005007932 RCV005742009

NM_025137.4(SPG11):c.3291+1G>T

SNV
Germline

Chr15:44610839

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344332

rs_312262753

4 SubmittersRCV000034205 RCV001270133

NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)

SNV
Germline

Chr15:44574931

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344365

rs_312262774

3 SubmittersRCV000034235 RCV005600627 RCV005007933

NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)

SNV
Germline

Chr15:44573595

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA344372

rs_149003934

8 SubmittersRCV000034242 RCV000594035 RCV002467533 RCV002467534 RCV002477051

NM_025137.4(SPG11):c.6477+4A>G

SNV
Germline

Chr15:44570521

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA344377

rs_312262780

6 SubmittersRCV000034246 RCV001847637 RCV002467535 RCV002467536

NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)

SNV
Germline

Chr15:44565997

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Metabolic disease

Criteria Provided
Multiple Submitters
No Conflicts

CA344384

rs_312262785

11 SubmittersRCV000034254 RCV001546365 RCV001847638 RCV002362611 RCV004767030 RCV005624720

NM_001005373.4(LRSAM1):c.2047-1G>A

SNV
Germline

Chr9:127502773

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA374938406

rs_1564287793

3 SubmittersRCV000034318 RCV000789359

NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)

SNV
Germline

Chr3:179419444

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate F

Criteria Provided
Single Submitter

CA130933

rs_387907340

2 SubmittersRCV000034850

NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)

SNV
Germline

Chr3:179416495

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate F

Criteria Provided
Single Submitter

CA130934

rs_387907341

2 SubmittersRCV000034851

NM_000371.4(TTR):c.417G>A (p.Thr139=)

SNV
Germline

Chr18:31598648

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiomyopathy
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA132602

rs_2276382

15 SubmittersRCV000036377 RCV000248562 RCV000587633 RCV001081376 RCV001170611 RCV001173304

NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)

SNV
Germline

Chr1:156136070

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA016599

rs_397517886

3 SubmittersRCV000041305 RCV000236658 RCV002513581

NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)

SNV
Germline

Chr1:156136093

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2B1
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA016641

rs_397517889

14 SubmittersRCV000041308 RCV000223811 RCV000469099 RCV000592134 RCV003236576 RCV003343619 RCV004546422 RCV005402823

NM_170707.4(LMNA):c.1146C>T (p.Gly382=)

SNV
Germline

Chr1:156136110

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Neuromuscular disease
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA016690

rs_57508089

12 SubmittersRCV000041309 RCV000057239 RCV000468865 RCV000620488 RCV001775074

NM_170707.4(LMNA):c.1185G>A (p.Ser395=)

SNV
Germline

Chr1:156136241

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA016833

rs_397517890

4 SubmittersRCV000041311 RCV000725248 RCV000777976 RCV001441153

NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)

SNV
Germline

Chr1:156136257

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Primary dilated cardiomyopathy
not specified
11 conditions

Criteria Provided
Conflicting Classifications

CA016870

rs_61094188

20 SubmittersRCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000769728 RCV001172616 RCV002345327 RCV003996453 RCV004767033 RCV005042118

NM_170707.4(LMNA):c.1566C>T (p.Cys522=)

SNV
Germline

Chr1:156137190

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Mandibuloacral dysplasia with type A lipodystrophy
Familial partial lipodystrophy, Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017459

rs_149339264

19 SubmittersRCV000041322 RCV000233927 RCV000242680 RCV000262946 RCV000289458 RCV000340752 RCV000320484 RCV000380292 RCV000377490 RCV000399953 RCV000777760 RCV001093764 RCV001098994 RCV001172631 RCV001310873

NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)

SNV
Germline

Chr1:156137666

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Laminopathy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA017615

rs_56984562

13 SubmittersRCV000041325 RCV000057343 RCV000211786 RCV000242991 RCV000462793 RCV004786315 RCV006547559

NM_170707.4(LMNA):c.1656C>T (p.Asp552=)

SNV
Germline

Chr1:156137701

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
LMNA-related disorder
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017656

rs_370219874

14 SubmittersRCV000041326 RCV000619881 RCV000726458 RCV001088399 RCV001180815 RCV004734589 RCV003996457

NM_170707.4(LMNA):c.1751G>A (p.Arg584His)

SNV
Germline

Chr1:156138540

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
11 conditions
Familial partial lipodystrophy, Dunnigan type
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA020327

rs_56657623

11 SubmittersRCV000041330 RCV000057355 RCV001065506 RCV001184222 RCV002504919 RCV002467559 RCV003162351

NM_170707.4(LMNA):c.1773C>T (p.Cys591=)

SNV
Germline

Chr1:156138562

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA020366

rs_397517897

9 SubmittersRCV000041333 RCV000530060 RCV001184223 RCV002399397 RCV003996458

NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)

SNV
Germline

Chr1:156138593

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
LMNA-related disorder
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Conflicting Classifications

CA014839

rs_60662302

16 SubmittersRCV000041334 RCV000057361 RCV000148601 RCV000617798 RCV000771799 RCV001088263 RCV004541208 RCV004820827

NM_170707.4(LMNA):c.1851C>T (p.Ala617=)

SNV
Germline

Chr1:156138640

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA015217

rs_143189394

15 SubmittersRCV000041336 RCV000234314 RCV000769733 RCV001173409 RCV001701583 RCV002408539 RCV003996460

NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)

SNV
Germline

Chr1:156138701

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
LMNA-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA015346

rs_144851946

11 SubmittersRCV000041338 RCV000725381 RCV001084443 RCV001188113 RCV004541209 RCV005403744

NM_170707.4(LMNA):c.266G>A (p.Arg89His)

SNV
Germline

Chr1:156115184

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017833

rs_59040894

2 SubmittersRCV000041342 RCV005089375

NM_170707.4(LMNA):c.357C>T (p.Arg119=)

SNV
Germline

Chr1:156130617

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA014926

rs_41313880

27 SubmittersRCV000041345 RCV000057395 RCV000148598 RCV000211467 RCV000249770 RCV000768710 RCV001081311 RCV001096444 RCV001096445 RCV001096446 RCV001096447 RCV001101878 RCV001101879 RCV001101881 RCV001096443 RCV001101880 RCV001173420 RCV004528231

NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)

SNV
Germline

Chr1:156115268

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Hypertrophic cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Heart-hand syndrome, Slovenian type
Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Conflicting Classifications

CA017949

rs_397517901

17 SubmittersRCV000041346 RCV000324940 RCV000653882 RCV000853426 RCV001007778 RCV001098094 RCV001098095 RCV001098092 RCV001098093 RCV001099881 RCV001099882 RCV001182267 RCV002336155 RCV003996462 RCV004558292 RCV005357279

NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)

SNV
Germline

Chr1:156115274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017961

rs_397517902

6 SubmittersRCV000041347 RCV000767136 RCV003581568 RCV006547560

NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)

SNV
Germline

Chr1:156130696

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA018101

rs_397517903

2 SubmittersRCV000041348 RCV000206666

NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)

SNV
Germline

Chr1:156130708

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018114

rs_58917027

4 SubmittersRCV000041350 RCV000057407 RCV001265661 RCV001852841

NM_170707.4(LMNA):c.513+1G>C

SNV
Germline

Chr1:156130774

Likely pathogenic

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018184

rs_397517904

2 SubmittersRCV000041353 RCV002513582

NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)

SNV
Germline

Chr1:156134496

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
8 conditions
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA018291

rs_61195471

9 SubmittersRCV000055999 RCV000057427 RCV000211790 RCV000618699 RCV000653912 RCV001824588 RCV004724769

NM_170707.4(LMNA):c.629T>G (p.Ile210Ser)

SNV
Germline

Chr1:156134518

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA018335

rs_267607572

5 SubmittersRCV000041357 RCV000057435 RCV005364914 RCV006461277

NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)

SNV
Germline

Chr1:156134838

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018429

rs_60682848

13 SubmittersRCV000057442 RCV000056001 RCV000194831 RCV000211792 RCV000464494 RCV001170453 RCV002362662

NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr1:156134865

Pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018478

rs_267607573

6 SubmittersRCV000041360 RCV000057446 RCV000653900 RCV000618154 RCV003531940

NM_170707.4(LMNA):c.725C>T (p.Ala242Val)

SNV
Germline

Chr1:156134890

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
11 conditions

Criteria Provided
Conflicting Classifications

CA018498

rs_397517906

14 SubmittersRCV000041361 RCV000182361 RCV000157293 RCV000620828 RCV000770763 RCV000801882 RCV001258043 RCV001798224 RCV004698466 RCV005042120

NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)

SNV
Germline

Chr1:156134910

Pathogenic/Likely pathogenic

Laminopathy
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA018552

rs_121912496

3 SubmittersRCV000041362 RCV000818791 RCV005638410

NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)

SNV
Germline

Chr1:156134949

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018633

rs_397517909

2 SubmittersRCV000041366 RCV003581570

NM_170707.4(LMNA):c.789G>A (p.Leu263=)

SNV
Germline

Chr1:156134954

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018646

rs_148557956

13 SubmittersRCV000041367 RCV000617711 RCV000723485 RCV001085667 RCV001178117 RCV003996465

NM_170707.4(LMNA):c.78C>T (p.Ile26=)

SNV
Germline

Chr1:156114996

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018652

rs_373721390

7 SubmittersRCV000041368 RCV000725413 RCV001079073 RCV001188883 RCV002415484

NM_170707.4(LMNA):c.799T>C (p.Tyr267His)

SNV
Germline

Chr1:156134964

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018657

rs_267607593

5 SubmittersRCV000041369 RCV000057461 RCV000617680 RCV002513583

NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)

SNV
Germline

Chr1:156135239

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA018775

rs_397517911

3 SubmittersRCV000041375 RCV005632207 RCV005089377

NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)

SNV
Germline

Chr1:156135244

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Myocarditis
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018785

rs_397517912

5 SubmittersRCV000041376 RCV000505709 RCV000692291 RCV002054813

NM_170707.4(LMNA):c.895A>G (p.Ile299Val)

SNV
Germline

Chr1:156135271

Conflicting classifications of pathogenicity

not specified
Familial partial lipodystrophy, Dunnigan type
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
LMNA-related disorder
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA014949

rs_150924946

13 SubmittersRCV000041378 RCV000148604 RCV000619864 RCV000726532 RCV000777745 RCV001086902 RCV001174244 RCV004734590 RCV004806042

NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)

SNV
Germline

Chr1:156135913

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
not specified
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
LMNA-related disorder
Laminopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018878

rs_56816490

21 SubmittersRCV000041379 RCV000057489 RCV000560270 RCV000769726 RCV001000784 RCV001251293 RCV001775075 RCV002371856 RCV004541210 RCV006249573

NM_170707.4(LMNA):c.954G>A (p.Ala318=)

SNV
Germline

Chr1:156135918

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018888

rs_397517914

4 SubmittersRCV000041380 RCV001447601 RCV002225280 RCV003996466

NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)

SNV
Germline

Chr1:156135925

Pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Primary familial dilated cardiomyopathy
11 conditions
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018909

rs_267607554

11 SubmittersRCV000041382 RCV000057493 RCV000619789 RCV000686618 RCV002265579 RCV002483029 RCV005402824

NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)

SNV
Germline

Chr1:156135940

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial hypertrophic cardiomyopathy
not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Cardiomyopathy
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA018917

rs_56851164

17 SubmittersRCV000057494 RCV000208012 RCV000212504 RCV000544253 RCV000621488 RCV000755678 RCV001192112 RCV003996467 RCV005042121

NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)

SNV
Germline

Chr1:156135956

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
LMNA-related disorder
See cases

Criteria Provided
Conflicting Classifications

CA018936

rs_59301204

23 SubmittersRCV000182367 RCV000593819 RCV000769727 RCV001071970 RCV001265547 RCV002381325 RCV003235003 RCV003335073 RCV004797773

NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)

SNV
Germline

Chr8:74360293

Pathogenic

Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA263216

rs_397515441

3 SubmittersRCV000043548 RCV002513634

NM_018972.4(GDAP1):c.368A>G (p.His123Arg)

SNV
Germline

Chr8:74360194

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2K
Condition: not provided
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA263218

rs_397515442

8 SubmittersRCV000043549 RCV000254797 RCV000696667 RCV000857206

NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu)

SNV
Germline

Chr8:74364111

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2K

No Assertion Criteria Provided

CA263220

rs_397515443

2 SubmittersRCV000043550

NM_002972.4(SBF1):c.1249A>G (p.Met417Val)

SNV
Germline

Chr22:50465084

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4B3
Microcephaly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA143927

rs_587776986

4 SubmittersRCV000043693 RCV001252745 RCV002514182

NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)

SNV
Germline

Chr22:50454858

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B3
Condition: not provided
not specified
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA143929

rs_200488568

11 SubmittersRCV000043694 RCV000762082 RCV002281731 RCV003318497

NM_001376.5(DYNC1H1):c.10008G>T (p.Lys3336Asn)

SNV
Germline

Chr14:102032396

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

No Assertion Criteria Provided

CA143959

rs_397509410

2 SubmittersRCV000049270 RCV003447108

NM_001376.5(DYNC1H1):c.10151G>A (p.Arg3384Gln)

SNV
Germline

Chr14:102033136

Pathogenic

Intellectual disability, autosomal dominant 13
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA143960

rs_397509411

4 SubmittersRCV000049271 RCV001091160 RCV003447109

NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)

SNV
Germline

Chr14:102032419

Pathogenic

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability
Lissencephaly

Criteria Provided
Multiple Submitters
No Conflicts

CA143961

rs_397509412

5 SubmittersRCV000049272 RCV001262933 RCV001255327 RCV001291070

NM_005391.5(PDK3):c.473G>A (p.Arg158His)

SNV
Germline

ChrX:24503479

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 6
not specified

Criteria Provided
Conflicting Classifications

CA144620

rs_397515323

5 SubmittersRCV000054495 RCV004018967

NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val)

SNV
Germline

Chr19:10795378

Conflicting classifications of pathogenicity

Fetal akinesia-cerebral and retinal hemorrhage syndrome
Charcot-Marie-Tooth disease dominant intermediate B

No Assertion Criteria Provided

CA144625

rs_397514735

2 SubmittersRCV000054501 RCV003447110

NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)

SNV
Germline

Chr1:156134809

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018372

rs_61295588

4 SubmittersRCV000056000 RCV000057438 RCV001382394 RCV002362688

NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)

SNV
Germline

Chr8:24953779

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA217487

rs_62636503

8 SubmittersRCV000057113 RCV000534161 RCV000585797 RCV001174356 RCV005406797

NM_006158.5(NEFL):c.19G>A (p.Glu7Lys)

SNV
Germline

Chr8:24956497

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA217523

rs_57848467

4 SubmittersRCV000057126 RCV000789662 RCV005394291 RCV005055556

NM_006158.5(NEFL):c.227T>C (p.Val76Ala)

SNV
Germline

Chr8:24956289

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 1F
not specified
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease
NEFL-related disorder

Criteria Provided
Conflicting Classifications

CA217529

rs_58907919

7 SubmittersRCV000057128 RCV000267478 RCV000790247 RCV001087779 RCV001173052 RCV003974942

NM_006158.5(NEFL):c.23C>A (p.Pro8Gln)

SNV
Germline

Chr8:24956493

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA217534

rs_61491953

2 SubmittersRCV000057130 RCV001174358

NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)

SNV
Germline

Chr8:24956493

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA217536

rs_61491953

6 SubmittersRCV000057131 RCV000234847 RCV000789663 RCV002426613

NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)

SNV
Germline

Chr8:24956493

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2E
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA217537

rs_61491953

5 SubmittersRCV000057132 RCV001235472 RCV003278661

NM_006158.5(NEFL):c.268G>A (p.Glu90Lys)

SNV
Germline

Chr8:24956248

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA217539

rs_58332872

5 SubmittersRCV000057133 RCV001854171

NM_006158.5(NEFL):c.45G>A (p.Lys15=)

SNV
Germline

Chr8:24956471

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA217558

rs_62636518

3 SubmittersRCV000057140 RCV001162498 RCV002513733

NM_006158.5(NEFL):c.639C>G (p.Ile213Met)

SNV
Germline

Chr8:24955877

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease
Inborn genetic diseases
NEFL-related disorder

Criteria Provided
Conflicting Classifications

CA217562

rs_62636522

13 SubmittersRCV000057142 RCV000507003 RCV001081393 RCV001160882 RCV001173051 RCV002362689 RCV003925018

NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)

SNV
Germline

Chr1:156135971

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA016433

rs_58105277

8 SubmittersRCV000057214 RCV000225878 RCV002426615 RCV002483086 RCV003996492 RCV006547573

NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)

SNV
Germline

Chr1:156136003

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016456

rs_267607548

5 SubmittersRCV000057216 RCV001049424 RCV003996494 RCV004639132

NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)

SNV
Germline

Chr1:156136009

Pathogenic/Likely pathogenic

Condition: not provided
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
6 conditions
11 conditions
Primary dilated cardiomyopathy
Laminopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA016479

rs_267607555

12 SubmittersRCV000057218 RCV000500548 RCV000653911 RCV000754811 RCV000845011 RCV002504959 RCV003996495 RCV004786332 RCV005348065

NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)

SNV
Germline

Chr1:156136010

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016488

rs_58789393

4 SubmittersRCV000057219 RCV001854172 RCV003343625

NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)

SNV
Germline

Chr1:156115022

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016503

rs_267607644

5 SubmittersRCV000057221 RCV000499410 RCV001231384

NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr1:156136027

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA016527

rs_267607617

3 SubmittersRCV000057223 RCV000233611 RCV003886373

NM_170707.4(LMNA):c.1069G>C (p.Asp357His)

SNV
Germline

Chr1:156136033

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA016542

rs_267607567

2 SubmittersRCV000057225 RCV001063774

NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)

SNV
Germline

Chr1:156136045

Pathogenic

Condition: not provided
Muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016566

rs_267607634

3 SubmittersRCV000057229 RCV000504480 RCV001218431

NM_170707.4(LMNA):c.1098G>A (p.Lys366=)

SNV
Germline

Chr1:156136062

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA016587

rs_57901307

11 SubmittersRCV000057231 RCV000500477 RCV001178173 RCV001437348 RCV002453371 RCV003996496

NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)

SNV
Germline

Chr1:156136094

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Congenital muscular dystrophy due to LMNA mutation
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA016657

rs_61672878

10 SubmittersRCV000057236 RCV001237945 RCV002321554 RCV003448256 RCV003996497

NM_170707.4(LMNA):c.1149G>A (p.Glu383=)

SNV
Germline

Chr1:156136113

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2B1

Criteria Provided
Conflicting Classifications

CA016698

rs_267607603

9 SubmittersRCV000057240 RCV000259097 RCV000289312 RCV000324542 RCV000355460 RCV000293812 RCV000298159 RCV000327855 RCV000377531 RCV000536971 RCV000619516 RCV000776145 RCV001098597 RCV001093854

NM_170707.4(LMNA):c.1157+1G>A

SNV
Germline

Chr1:156136122

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016716

rs_267607590

3 SubmittersRCV000057242 RCV000621430 RCV002513736

NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)

SNV
Germline

Chr1:156136121

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA016734

rs_267607545

5 SubmittersRCV000057243 RCV003581572 RCV004819190

NM_170707.4(LMNA):c.1163G>A (p.Arg388His)

SNV
Germline

Chr1:156136219

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016807

rs_267607576

5 SubmittersRCV000057251 RCV000805453 RCV001257936 RCV004018987

NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)

SNV
Germline

Chr1:156115034

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
LMNA-related disorder
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA016815

rs_57983345

8 SubmittersRCV000057252 RCV000557302 RCV004545742 RCV005252725

NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)

SNV
Germline

Chr1:156114929

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA016863

rs_267607620

2 SubmittersRCV000057257 RCV000818990

NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)

SNV
Germline

Chr1:156136299

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
11 conditions
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016913

rs_267607606

9 SubmittersRCV000057260 RCV000534245 RCV000764982 RCV001191555 RCV002381362

NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)

SNV
Germline

Chr1:156136318

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
not specified
Cardiovascular phenotype
Primary dilated cardiomyopathy
Laminopathy

Criteria Provided
Conflicting Classifications

CA016923

rs_267607564

9 SubmittersRCV000057261 RCV000694118 RCV000772169 RCV002281901 RCV002444514 RCV003996501 RCV006249579

NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)

SNV
Germline

Chr1:156115045

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA016942

rs_60446065

4 SubmittersRCV000057262 RCV001225020

NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)

SNV
Germline

Chr1:156136350

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016950

rs_267607618

7 SubmittersRCV000057263 RCV000216125 RCV000230676 RCV002381363 RCV005042174

NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)

SNV
Germline

Chr1:156136359

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Cardiomyopathy
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA014967

rs_150840924

13 SubmittersRCV000057265 RCV000148606 RCV000150953 RCV000653929 RCV001172619 RCV001524022 RCV002381364 RCV005042175

NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)

SNV
Germline

Chr1:156136371

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Familial partial lipodystrophy, Dunnigan type
LMNA-related disorder
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2B1

Criteria Provided
Conflicting Classifications

CA016991

rs_62636506

12 SubmittersRCV000057267 RCV001182564 RCV001225469 RCV002381365 RCV003326119 RCV004537256 RCV003996503 RCV004786333

NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)

SNV
Germline

Chr1:156136393

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017008

rs_58541611

2 SubmittersRCV000057269 RCV001248144

NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)

SNV
Germline

Chr1:156136402

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017024

rs_267607637

2 SubmittersRCV000057271 RCV000705578

NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)

SNV
Germline

Chr1:156115052

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA017029

rs_58436778

4 SubmittersRCV000057272 RCV000692072 RCV002468560

NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro)

SNV
Germline

Chr1:156136414

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA017039

rs_267607598

3 SubmittersRCV000057274 RCV002513737 RCV005867842

NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro)

SNV
Germline

Chr1:156136417

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017048

rs_267607638

2 SubmittersRCV000057275 RCV003581573

NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)

SNV
Germline

Chr1:156136420

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017066

rs_267607597

2 SubmittersRCV000057276 RCV002514281

NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)

SNV
Germline

Chr1:156136422

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017074

rs_267607599

5 SubmittersRCV000057277 RCV000465598

NM_170707.4(LMNA):c.136A>G (p.Ile46Val)

SNV
Germline

Chr1:156115054

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017105

rs_267607615

3 SubmittersRCV000057281 RCV001230439

NM_170707.4(LMNA):c.1380+1G>A

SNV
Germline

Chr1:156136437

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
8 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017128

rs_267607552

5 SubmittersRCV000057283 RCV000697969 RCV001535753 RCV002381366

NM_170707.4(LMNA):c.139G>C (p.Asp47His)

SNV
Germline

Chr1:156115057

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017185

rs_267607608

2 SubmittersRCV000057290 RCV001319873

NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)

SNV
Germline

Chr1:156136951

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Conflicting Classifications

CA017206

rs_28928902

5 SubmittersRCV000057292 RCV002390204 RCV002514282 RCV004783737

NM_170707.4(LMNA):c.1488+1G>A

SNV
Germline

Chr1:156137029

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017312

rs_267607640

4 SubmittersRCV000057305 RCV003298103 RCV003581574

NM_170707.4(LMNA):c.1488+5G>C

SNV
Germline

Chr1:156137033

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017326

rs_267607543

4 SubmittersRCV000015610 RCV000057307 RCV003581575

NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)

SNV
Germline

Chr1:156137207

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017504

rs_57629361

7 SubmittersRCV000057328 RCV000201062 RCV000986432 RCV001045262

NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)

SNV
Germline

Chr1:156137207

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Familial partial lipodystrophy, Dunnigan type
Abnormality of the musculature
Congenital muscular dystrophy due to LMNA mutation
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017510

rs_57629361

9 SubmittersRCV000057329 RCV000472329 RCV000499741 RCV001814041 RCV003483458 RCV006342097

NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)

SNV
Germline

Chr1:156137207

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017516

rs_57629361

8 SubmittersRCV000057330 RCV001182566 RCV003996505 RCV004018988 RCV005089468

NM_170707.4(LMNA):c.1608+1G>A

SNV
Germline

Chr1:156137233

Pathogenic

Condition: not provided
Neuromuscular disease
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
11 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017556

rs_267607592

7 SubmittersRCV000057335 RCV000150954 RCV000693979 RCV001196083 RCV002490641 RCV004629146

NM_170707.4(LMNA):c.1609-3C>G

SNV
Germline

Chr1:156137651

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
LMNA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA017576

rs_267607581

9 SubmittersRCV000057338 RCV000154514 RCV000503283 RCV001174242 RCV001854174 RCV002390206 RCV004537257

NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)

SNV
Germline

Chr1:156137666

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA017601

rs_56984562

3 SubmittersRCV000057341 RCV000823221 RCV004017361

NM_170707.4(LMNA):c.1622G>A (p.Arg541His)

SNV
Germline

Chr1:156137667

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
LMNA-related disorder
Congenital muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA017621

rs_61444459

16 SubmittersRCV000057344 RCV000221013 RCV000230467 RCV000246865 RCV001262710 RCV001836636 RCV003335086 RCV004018989 RCV005252726

NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)

SNV
Germline

Chr1:156137678

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial hypertrophic cardiomyopathy
not specified
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease
Cardiomyopathy
Monogenic diabetes
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Criteria Provided
Conflicting Classifications

CA017642

rs_267607613

15 SubmittersRCV000057347 RCV000208352 RCV000454519 RCV000785171 RCV000812762 RCV001004948 RCV001174246 RCV001185752 RCV001174410 RCV003996506 RCV005409612

NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)

SNV
Germline

Chr1:156138537

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
11 conditions
Familial partial lipodystrophy, Dunnigan type
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA020320

rs_59601651

10 SubmittersRCV000057354 RCV000618100 RCV000653858 RCV001182287 RCV002504960 RCV003333022 RCV003996507

NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)

SNV
Germline

Chr1:156115102

Pathogenic

Condition: not provided
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017741

rs_56793579

5 SubmittersRCV000057365 RCV000503031 RCV001051802

NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)

SNV
Germline

Chr1:156115162

Pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017794

rs_59270054

5 SubmittersRCV000057380 RCV000156060 RCV000457442 RCV005589774

NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)

SNV
Germline

Chr1:156115184

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017839

rs_59040894

3 SubmittersRCV000057383 RCV000462640 RCV005364950

NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)

SNV
Germline

Chr1:156115192

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017846

rs_267607560

5 SubmittersRCV000057384 RCV002433553 RCV006461342

NM_170707.4(LMNA):c.357-1G>T

SNV
Germline

Chr1:156130616

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA017975

rs_267607569

2 SubmittersRCV000057393 RCV001387325

NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)

SNV
Germline

Chr1:156130679

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018070

rs_60652225

2 SubmittersRCV000057402 RCV001854176

NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)

SNV
Germline

Chr1:156130687

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018081

rs_61661343

5 SubmittersRCV000057404 RCV001258042 RCV001387327 RCV003996511

NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)

SNV
Germline

Chr1:156130757

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018166

rs_267607570

6 SubmittersRCV000057411 RCV000503619 RCV000620401 RCV000556738 RCV003993783

NM_170707.4(LMNA):c.513G>A (p.Lys171=)

SNV
Germline

Chr1:156130773

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018192

rs_267607542

2 SubmittersRCV000057412 RCV001231297

NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr1:156134457

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1S
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder
Dilated cardiomyopathy 1A
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA018245

rs_59026483

17 SubmittersRCV000057419 RCV000491585 RCV000535082 RCV000619878 RCV003996512 RCV004528262 RCV005862962 RCV005862963

NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)

SNV
Germline

Chr1:156134458

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA018251

rs_267607571

16 SubmittersRCV000057421 RCV000619042 RCV000653887 RCV000768712 RCV001449792 RCV003447483

NM_170707.4(LMNA):c.608A>T (p.Glu203Val)

SNV
Germline

Chr1:156134497

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018303

rs_28933092

3 SubmittersRCV000057429 RCV002513739 RCV004799772

NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)

SNV
Germline

Chr1:156134507

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018318

rs_267607629

6 SubmittersRCV000057431 RCV000694277 RCV002354249

NM_170707.4(LMNA):c.640-10A>G

SNV
Germline

Chr1:156134795

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018347

rs_80356807

7 SubmittersRCV000057437 RCV001029824 RCV001221904 RCV002362690

NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)

SNV
Germline

Chr1:156134821

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018400

rs_267607584

3 SubmittersRCV000057439 RCV005089470

NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)

SNV
Germline

Chr1:156134859

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
7 conditions

Criteria Provided
Single Submitter

CA018465

rs_267607609

3 SubmittersRCV000057444 RCV001038356 RCV001535783

NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)

SNV
Germline

Chr1:156134860

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018472

rs_57207746

3 SubmittersRCV000057445 RCV000201054 RCV001052813

NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)

SNV
Germline

Chr1:156134901

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018512

rs_267607587

4 SubmittersRCV000057448 RCV001854177

NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)

SNV
Germline

Chr1:156114991

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA018531

rs_58327533

6 SubmittersRCV000057449 RCV001048135 RCV002381367 RCV005409613

NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)

SNV
Germline

Chr1:156114991

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA018538

rs_58327533

4 SubmittersRCV000057450 RCV001049614 RCV002381368 RCV005001985

NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)

SNV
Germline

Chr1:156134911

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Muscular dystrophy
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2B1
Abnormality of the musculature
Cardiomyopathy
Congenital muscular dystrophy
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA018567

rs_59332535

19 SubmittersRCV000057453 RCV000201012 RCV000501991 RCV000496185 RCV000548477 RCV000662104 RCV001814042 RCV003230389 RCV004018991 RCV004795993

NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)

SNV
Germline

Chr1:156114992

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018579

rs_61578124

2 SubmittersRCV000057454 RCV002513740

NM_170707.4(LMNA):c.810+1G>A

SNV
Germline

Chr1:156134976

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018696

rs_267607632

2 SubmittersRCV000057465 RCV000477527

NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)

SNV
Germline

Chr1:156115000

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018743

rs_59914820

3 SubmittersRCV000057473 RCV000653924 RCV006342098

NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)

SNV
Germline

Chr1:156135274

Pathogenic/Likely pathogenic

Condition: not provided
Lipodystrophy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiomyopathy
Hutchinson-Gilford syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA018826

rs_267607591

6 SubmittersRCV000057481 RCV000146262 RCV001234965 RCV003227631 RCV006547576 RCV005411317

NM_170707.4(LMNA):c.937-11C>G

SNV
Germline

Chr1:156135890

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018858

rs_267607645

2 SubmittersRCV000057486 RCV001854178

NM_170707.4(LMNA):c.937-7C>G

SNV
Germline

Chr1:156135894

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy
11 conditions
Dilated cardiomyopathy 1A

Criteria Provided
Conflicting Classifications

CA018867

rs_267607681

14 SubmittersRCV000057488 RCV000440584 RCV000530832 RCV000772012 RCV001172638 RCV003996513 RCV005042176 RCV004786335

NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)

SNV
Germline

Chr1:156135916

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018883

rs_267607574

9 SubmittersRCV000057491 RCV000852590 RCV001182567 RCV001303998 RCV002371900

NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)

SNV
Germline

Chr1:156115016

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018931

rs_267607614

2 SubmittersRCV000057495 RCV002513742

NM_170707.4(LMNA):c.992G>C (p.Arg331Pro)

SNV
Germline

Chr1:156135956

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018942

rs_59301204

3 SubmittersRCV000057496 RCV003581578

NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)

SNV
Germline

Chr1:156115017

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA018951

rs_57966821

4 SubmittersRCV000057498 RCV000790002 RCV001854179

NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)

SNV
Germline

Chr12:57500337

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Condition: not provided
MARS-related disorder
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
not specified

Criteria Provided
Conflicting Classifications

CA145177

rs_140467171

6 SubmittersRCV000059332 RCV000521595 RCV000709860 RCV001173433 RCV002514303 RCV004019069

NM_015271.5(TRIM2):c.761A>T (p.Glu254Val)

SNV
Germline

Chr4:153294460

Pathogenic

Charcot-Marie-Tooth disease type 2R

No Assertion Criteria Provided

CA211304

rs_587777063

1 SubmittersRCV000074302

NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)

SNV
Germline

Chr17:42543370

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA220552

rs_375103824

2 SubmittersRCV000078454 RCV001854380

NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)

SNV
Germline

Chr17:42537517

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA220553

rs_398123281

5 SubmittersRCV000078459 RCV000664563 RCV002514378

NM_000263.4(NAGLU):c.933C>G (p.Ala311=)

SNV
Germline

Chr17:42541118

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145933

rs_115888189

8 SubmittersRCV000078461 RCV000963953 RCV001123008 RCV001698752

NM_000166.6(GJB1):c.172C>T (p.Pro58Ser)

SNV
Germline

ChrX:71223879

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA267507

rs_483352926

1 SubmittersRCV000083303

NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly)

SNV
Germline

ChrX:107640957

Pathogenic

Charcot-Marie-Tooth disease X-linked recessive 5

No Assertion Criteria Provided

CA267604

rs_587777150

1 SubmittersRCV000087131

NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)

SNV
Germline

Chr12:109796638

Pathogenic

Skeletal dysplasia
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA347755

rs_515726153

3 SubmittersRCV000202504 RCV001804841 RCV001854531

NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)

SNV
Germline

Chr12:109792403

Pathogenic/Likely pathogenic

Skeletal dysplasia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Spondylometaphyseal dysplasia, Kozlowski type

Criteria Provided
Multiple Submitters
No Conflicts

CA347704

rs_515726162

4 SubmittersRCV000202452 RCV001596963 RCV003505098 RCV004595924

NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)

SNV
Germline

Chr11:62690476

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Monogenic diabetes
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy

Criteria Provided
Conflicting Classifications

CA200862

rs_145649423

20 SubmittersRCV000116504 RCV000174173 RCV000300263 RCV000357438 RCV000664139 RCV001082147 RCV001847675 RCV002426660 RCV002498501

NM_001376.5(DYNC1H1):c.10656C>T (p.Tyr3552=)

SNV
Germline

Chr14:102034354

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA231070

rs_587780329

2 SubmittersRCV000116902 RCV003642870

NM_001376.5(DYNC1H1):c.12102+6G>A

SNV
Germline

Chr14:102041740

Conflicting classifications of pathogenicity

not specified
Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA152623

rs_377669980

7 SubmittersRCV000116903 RCV000286742 RCV000458487 RCV001173884 RCV001704021 RCV002354295

NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=)

SNV
Germline

Chr14:102015314

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA231072

rs_587780330

2 SubmittersRCV000116905 RCV000649621

NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=)

SNV
Germline

Chr14:102027639

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231074

rs_532073330

4 SubmittersRCV000116906 RCV001522978 RCV002371948

NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)

SNV
Germline

Chr14:102047991

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA152632

rs_149300055

10 SubmittersRCV000116910 RCV000233457 RCV001109550 RCV001174052 RCV001719861 RCV002381424 RCV003964979

NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)

SNV
Germline

Chr5:149041502

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
not specified
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA289042

rs_80227512

9 SubmittersRCV000118339 RCV000203974 RCV000212999 RCV000301828 RCV001095080 RCV001173902 RCV002362747

NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)

SNV
Germline

Chr19:10759766

Conflicting classifications of pathogenicity

not specified
Peripheral neuropathy
Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA158294

rs_144250390

10 SubmittersRCV000120647 RCV000145912 RCV000199355 RCV001122144 RCV002408627

NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr)

SNV
Germline

Chr19:10825075

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA158303

rs_587778236

4 SubmittersRCV000120650 RCV000766524 RCV001203864

NM_014874.4(MFN2):c.1641C>T (p.Leu547=)

SNV
Germline

Chr1:12005856

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292075

rs_140924661

12 SubmittersRCV000126753 RCV000584855 RCV001079621 RCV001172691 RCV002399499

NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)

SNV
Germline

Chr14:101986017

Pathogenic/Likely pathogenic

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Hereditary motor and sensory neuropathy
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13

Criteria Provided
Multiple Submitters
No Conflicts

CA174988

rs_587780564

13 SubmittersRCV000144249 RCV000149555 RCV000255067 RCV000624400 RCV000755714 RCV000762919

NM_002764.4(PRPS1):c.343A>G (p.Met115Val)

SNV
Germline

ChrX:107640938

Pathogenic/Likely pathogenic

Hearing loss, X-linked 1
Charcot-Marie-Tooth disease X-linked recessive 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270659

rs_587781262

3 SubmittersRCV000143858 RCV000143859 RCV004700434

NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)

SNV
Germline

ChrX:107650000

Pathogenic

Charcot-Marie-Tooth disease X-linked recessive 5

Criteria Provided
Single Submitter

CA270662

rs_587781263

2 SubmittersRCV000143860

NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)

SNV
Germline

Chr20:10648607

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Isolated Nonsyndromic Congenital Heart Disease
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA270004

rs_527236046

6 SubmittersRCV000132568 RCV000597619 RCV001138646 RCV002498649

NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)

SNV
Germline

Chr17:42543952

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA170085

rs_527236038

2 SubmittersRCV000132721 RCV001378699

NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)

SNV
Germline

Chr17:42543955

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA170087

rs_527236037

3 SubmittersRCV000132722 RCV001036826

NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)

SNV
Germline

Chr11:62691300

Pathogenic

Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Berardinelli-Seip congenital lipodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA170512

rs_587777606

6 SubmittersRCV000133397 RCV000412493 RCV000800475 RCV003311693

NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)

SNV
Germline

ChrX:71223966

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA270640

rs_587777877

2 SubmittersRCV000143793 RCV001042343

NM_000166.6(GJB1):c.580A>G (p.Met194Val)

SNV
Germline

ChrX:71224287

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA270643

rs_587777878

3 SubmittersRCV000143794 RCV002512552

NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)

SNV
Germline

ChrX:71223784

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA270646

rs_587777876

5 SubmittersRCV000143795 RCV000437610 RCV000460808

NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)

SNV
Germline

ChrX:71224497

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA270649

rs_587777879

5 SubmittersRCV000143796 RCV001174164 RCV001857486 RCV003327372

NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)

SNV
Germline

Chr9:92718652

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Criteria Provided
Conflicting Classifications

CA233053

rs_587777885

5 SubmittersRCV000143798 RCV000789076 RCV000988189

NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)

SNV
Germline

Chr1:11999054

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA270652

rs_587777875

11 SubmittersRCV000143799 RCV000197364 RCV000653884 RCV000789066 RCV002408639

NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)

SNV
Germline

Chr16:70255829

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233065

rs_138081804

12 SubmittersRCV000143804 RCV000999712 RCV001121845 RCV001086355 RCV002460928

NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)

SNV
Germline

Chr8:24953646

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233076

rs_587777882

5 SubmittersRCV000143808 RCV000789071 RCV001044771 RCV002381450

NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys)

SNV
Germline

Chr8:24955722

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA233082

rs_587777880

3 SubmittersRCV000143810 RCV000857200

NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)

SNV
Germline

Chr9:132330094

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Charcot-Marie-Tooth disease
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA233090

rs_534723946

9 SubmittersRCV000143813 RCV000626102 RCV000790203 RCV000791025 RCV001523409

NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)

SNV
Germline

Chr9:132327373

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Amyotrophic lateral sclerosis type 4
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA233099

rs_373375060

10 SubmittersRCV000143816 RCV000790204 RCV000988270 RCV001002069 RCV001041860 RCV001167322 RCV002326848 RCV004532621

NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)

SNV
Germline

Chr9:132327325

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA233102

rs_534886444

12 SubmittersRCV000143817 RCV000790205 RCV001049421 RCV000988269 RCV002326849 RCV005406843

NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)

SNV
Germline

Chr1:10337518

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A1
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA233110

rs_374098797

6 SubmittersRCV000143820 RCV001065481 RCV001173597 RCV003485542 RCV004019754 RCV005042280

NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)

SNV
Germline

Chr1:10361732

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA233113

rs_200561798

10 SubmittersRCV000143821 RCV001098766 RCV001080346 RCV001174215 RCV004019755

NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg)

SNV
Germline

Chr9:127481185

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233124

rs_200595164

5 SubmittersRCV000143825 RCV001045783 RCV002399510

NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr)

SNV
Germline

Chr8:1882687

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Autosomal dominant slowed nerve conduction velocity

Criteria Provided
Conflicting Classifications

CA233138

rs_587777712

6 SubmittersRCV000144070 RCV000144884 RCV003137643

NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)

SNV
Germline

Chr6:109743137

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4
Bilateral parasagittal parieto-occipital polymicrogyria

Criteria Provided
Conflicting Classifications

CA270673

rs_587777714

4 SubmittersRCV000144072 RCV001857490 RCV003447114

NM_014845.6(FIG4):c.290-2A>T

SNV
Germline

Chr6:109727107

Likely pathogenic

Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA270675

rs_587777715

4 SubmittersRCV000144073 RCV000789118

NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)

SNV
Germline

ChrX:71224395

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
not specified
Charcot-Marie-Tooth Neuropathy X
Inborn genetic diseases
Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA270921

rs_587781246

8 SubmittersRCV000144863 RCV000213596 RCV000551749 RCV002362778 RCV002483279 RCV004998292

NM_001005361.3(DNM2):c.1241A>G (p.Lys414Arg)

SNV
Unknown

Chr19:10797424

Likely pathogenic

Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA270924

rs_199927590

1 SubmittersRCV000144864

NM_022041.4(GAN):c.730A>G (p.Ile244Val)

SNV
Germline

Chr16:81356881

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Giant axonal neuropathy 1
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA270932

rs_200749953

7 SubmittersRCV000144871 RCV000295442 RCV000859286 RCV002381452 RCV006268625

NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)

SNV
Germline

Chr7:76303817

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA270935

rs_587781250

3 SubmittersRCV000144874 RCV001048111

NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)

SNV
Germline

Chr1:10275444

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA270941

rs_373698346

8 SubmittersRCV000144876 RCV000167979 RCV001530983 RCV004019760 RCV005031650

NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)

SNV
Germline

Chr5:149007006

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
Gastric cancer
not specified
Acute myeloid leukemia
Cervical cancer
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA270944

rs_142451273

12 SubmittersRCV000144878 RCV000403900 RCV000465654 RCV000488069 RCV001094974 RCV002453463 RCV005886968 RCV004998293 RCV005886966 RCV005886967 RCV005394500

NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His)

SNV
Germline

Chr14:101985925

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2O

No Assertion Criteria Provided

CA270950

rs_587781253

2 SubmittersRCV000144880 RCV003447116

NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)

SNV
Germline

Chr8:1923017

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Autosomal dominant slowed nerve conduction velocity

Criteria Provided
Conflicting Classifications

CA270961

rs_147531758

5 SubmittersRCV000144885 RCV000755828 RCV003603043

NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)

SNV
Germline

Chr15:34260958

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Multiple Submitters
No Conflicts

CA272476

rs_199747285

6 SubmittersRCV000147487 RCV001385770 RCV005008055

NM_001005361.3(DNM2):c.235+12C>A

SNV
Germline

Chr19:10759823

Conflicting classifications of pathogenicity

Centronuclear myopathy
not specified
Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA172125

rs_147026993

10 SubmittersRCV000145915 RCV000247852 RCV000350567 RCV000396653 RCV001668289

NM_001005361.3(DNM2):c.822G>A (p.Thr274=)

SNV
Germline

Chr19:10783093

Conflicting classifications of pathogenicity

Centronuclear myopathy
not specified
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA172134

rs_201763720

7 SubmittersRCV000145920 RCV000245493 RCV000457959 RCV001704068 RCV002408650

NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)

SNV
Germline

Chr19:10786672

Conflicting classifications of pathogenicity

not specified
Autosomal dominant centronuclear myopathy
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA172137

rs_150613209

7 SubmittersRCV000145921 RCV000280887 RCV000756033 RCV000802315 RCV002512574

NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)

SNV
Germline

Chr19:10812271

Pathogenic

Centronuclear myopathy
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy
See cases

Reviewed By Expert Panel

CA172101

rs_587783595

12 SubmittersRCV000145903 RCV000275646 RCV000552861 RCV000679888 RCV002252002

NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly)

SNV
Germline

Chr19:10812273

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Centronuclear myopathy

Reviewed By Expert Panel

CA233294

rs_587783596

3 SubmittersRCV000145904 RCV003447117 RCV005430500

NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)

SNV
Germline

Chr19:10823833

Conflicting classifications of pathogenicity

Centronuclear myopathy
not specified
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
DNM2-related disorder

Criteria Provided
Conflicting Classifications

CA172107

rs_371412466

5 SubmittersRCV000145907 RCV000605566 RCV001501273 RCV002408648 RCV003965102

NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)

SNV
Germline

Chr19:10823868

Pathogenic/Likely pathogenic

Centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA172112

rs_587783597

4 SubmittersRCV000145909 RCV002515958 RCV005252767

NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)

SNV
Germline

Chr19:10823886

Pathogenic/Likely pathogenic

Centronuclear myopathy
Condition: not provided
Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Multiple Submitters
No Conflicts

CA172114

rs_587783598

5 SubmittersRCV000145910 RCV000235945 RCV002286706 RCV003447118

NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)

SNV
Germline

Chr19:10829083

Conflicting classifications of pathogenicity

Centronuclear myopathy
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA172119

rs_554971107

4 SubmittersRCV000145913 RCV001731394 RCV002055885 RCV002415632

NM_170707.4(LMNA):c.1931G>A (p.Arg644His)

SNV
Germline

Chr1:156138720

Conflicting classifications of pathogenicity

Congenital muscular dystrophy
not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
11 conditions

Criteria Provided
Conflicting Classifications

CA014889

rs_368386019

12 SubmittersRCV000148599 RCV000182377 RCV000245708 RCV000725647 RCV000769735 RCV001079490 RCV001330501 RCV005042289

NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu)

SNV
Germline

Chr14:101980380

Pathogenic

Spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346108

rs_713993043

3 SubmittersRCV000149554 RCV003447119 RCV005411354

NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)

SNV
Germline

Chr22:50465006

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA174971

rs_690016543

3 SubmittersRCV000149508 RCV000162103

NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)

SNV
Germline

Chr11:68906120

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Peripheral neuropathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA346109

rs_372000714

12 SubmittersRCV000149574 RCV000255598 RCV000550952 RCV000790277 RCV000995566 RCV001814070 RCV002390316

NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val)

SNV
Germline

Chr11:68911496

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA211918

rs_724159958

2 SubmittersRCV000149576 RCV000192259

NM_002180.3(IGHMBP2):c.1118T>G (p.Val373Gly)

SNV
Germline

Chr11:68929240

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S

No Assertion Criteria Provided

CA211920

rs_724159959

1 SubmittersRCV000149577

NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr)

SNV
Germline

Chr11:68934508

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA211922

rs_724159960

4 SubmittersRCV000149578 RCV000236327 RCV002390317

NM_170707.4(LMNA):c.1968+5G>A

SNV
Germline

Chr1:156138762

Conflicting classifications of pathogenicity

Hutchinson-Gilford syndrome
Hutchinson-Gilford progeria syndrome, atypical
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA347068

rs_797044488

5 SubmittersRCV000192020 RCV000190823 RCV006461630

NM_170707.4(LMNA):c.178C>T (p.Arg60Cys)

SNV
Germline

Chr1:156115096

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017729

rs_28928900

5 SubmittersRCV000156772 RCV000768709 RCV001206073 RCV004786415 RCV005659859

NM_170707.4(LMNA):c.640-11A>C

SNV
Germline

Chr1:156134794

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018353

rs_727504932

4 SubmittersRCV000156325 RCV001186918 RCV002056124 RCV003998309

NM_170707.4(LMNA):c.1122C>T (p.His374=)

SNV
Germline

Chr1:156136086

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA016632

rs_143715750

5 SubmittersRCV000150949 RCV000242405 RCV000725445 RCV001046037 RCV001182014

NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)

SNV
Germline

Chr1:156136432

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA017121

rs_372011095

10 SubmittersRCV000154750 RCV000726125 RCV000824275 RCV001179779 RCV002381491 RCV003998270 RCV005042303

NM_170707.4(LMNA):c.1609-1G>A

SNV
Germline

Chr1:156137653

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017570

rs_111569862

4 SubmittersRCV000156608 RCV000182373 RCV001850165

NM_170707.4(LMNA):c.215G>T (p.Arg72Leu)

SNV
Germline

Chr1:156115133

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017782

rs_727504340

3 SubmittersRCV000154457 RCV001059604 RCV002426738

NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)

SNV
Germline

Chr1:156130757

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018161

rs_267607570

9 SubmittersRCV000150939 RCV000653861 RCV000732765 RCV000771896 RCV002336298 RCV002505147 RCV003998206

NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)

SNV
Germline

Chr1:156134851

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018453

rs_727505357

9 SubmittersRCV000156919 RCV000538272 RCV001525549 RCV003152686 RCV003998328 RCV006257278 RCV006342131 RCV005429225

NM_170707.4(LMNA):c.1158-3C>T

SNV
Germline

Chr1:156136211

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA016764

rs_727503136

3 SubmittersRCV000150951 RCV003998207 RCV005055621

NM_170707.4(LMNA):c.1488+14C>T

SNV
Germline

Chr1:156137042

Conflicting classifications of pathogenicity

not specified
Familial partial lipodystrophy, Dunnigan type
Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA017307

rs_377700689

11 SubmittersRCV000154749 RCV001097151 RCV001098889 RCV001098891 RCV001097148 RCV001097149 RCV001097150 RCV001097152 RCV001098890 RCV001098892 RCV001098893 RCV001173408 RCV001795278 RCV001850119 RCV003162630 RCV004734724

NM_170707.4(LMNA):c.1634G>A (p.Arg545His)

SNV
Germline

Chr1:156137679

Conflicting classifications of pathogenicity

not specified
Peripheral neuropathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1S
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Hutchinson-Gilford syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Charcot-Marie-Tooth disease type 2B1
Lipodystrophy
7 conditions
Autosomal semi-dominant severe lipodystrophic laminopathy
Primary dilated cardiomyopathy
LMNA-related disorder
6 conditions
11 conditions

Criteria Provided
Conflicting Classifications

CA017649

rs_142191737

29 SubmittersRCV000150955 RCV000449630 RCV000468904 RCV000491650 RCV000505801 RCV000621850 RCV000771819 RCV001101061 RCV001100810 RCV001101055 RCV001101062 RCV001101057 RCV001101058 RCV001101059 RCV001101060 RCV001248958 RCV001781492 RCV003993830 RCV003998208 RCV004532675 RCV005359320 RCV005042294

NM_170707.4(LMNA):c.1699-8C>G

SNV
Germline

Chr1:156138480

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA020283

rs_727503137

8 SubmittersRCV000150956 RCV000769731 RCV000876929 RCV001173401 RCV001775636 RCV004639144

NM_000371.4(TTR):c.190T>C (p.Phe64Leu)

SNV
Germline

Chr18:31593016

Conflicting classifications of pathogenicity

not specified
Amyloidosis, hereditary systemic 1
Condition: not provided
Charcot-Marie-Tooth disease
Cardiomyopathy
Cardiovascular phenotype
Carpal tunnel syndrome 1
Hyperthyroxinemia, dystransthyretinemic
Amyloidosis, hereditary systemic 1

Criteria Provided
Conflicting Classifications

CA182025

rs_138065384

11 SubmittersRCV000155021 RCV000474349 RCV000766993 RCV001173294 RCV001798511 RCV002408691 RCV005016472

NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)

SNV
Germline

Chr17:42543328

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA234308

rs_138695961

8 SubmittersRCV000153532 RCV001083792 RCV001831957 RCV003965144 RCV006263689

NM_000263.4(NAGLU):c.383+1G>T

SNV
Germline

Chr17:42536656

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA234307

rs_727504028

4 SubmittersRCV000153531 RCV000672966 RCV001850099

NM_000371.4(TTR):c.14G>A (p.Arg5His)

SNV
Germline

Chr18:31591916

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Amyloidosis, hereditary systemic 1
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease
TTR-related disorder
Hyperthyroxinemia, dystransthyretinemic
Carpal tunnel syndrome 1
Amyloidosis, hereditary systemic 1

Criteria Provided
Conflicting Classifications

CA297526

rs_138657343

21 SubmittersRCV000159430 RCV000246043 RCV000474573 RCV000769524 RCV000996672 RCV001173539 RCV004551363 RCV005016476

NM_000371.4(TTR):c.280G>C (p.Asp94His)

SNV
Germline

Chr18:31595199

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Condition: not provided
Charcot-Marie-Tooth disease
not specified
Cardiovascular phenotype
Carpal tunnel syndrome 1
Hyperthyroxinemia, dystransthyretinemic
Amyloidosis, hereditary systemic 1

Criteria Provided
Conflicting Classifications

CA297523

rs_730881164

13 SubmittersRCV000647355 RCV000725937 RCV001173300 RCV001731489 RCV002433710 RCV002478482

NM_000371.4(TTR):c.355G>A (p.Asp119Asn)

SNV
Germline

Chr18:31598586

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Condition: not provided
Charcot-Marie-Tooth disease
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA297513

rs_76410435

7 SubmittersRCV000697928 RCV000756859 RCV001173299 RCV002336372 RCV005431503

NM_006736.6(DNAJB2):c.229+1G>A

SNV
Germline

Chr2:219281772

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 5
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 2

Criteria Provided
Single Submitter

CA185992

rs_730882139

4 SubmittersRCV000161908 RCV000192265 RCV003447120

NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)

SNV
Germline

Chr2:219279847

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 5
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 2

Criteria Provided
Single Submitter

CA212514

rs_730882140

4 SubmittersRCV000161909 RCV000192266 RCV003447121

NM_030973.4(MED25):c.418C>T (p.Arg140Trp)

SNV
Germline

Chr19:49828983

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235584

rs_781140315

4 SubmittersRCV000162327 RCV000689030 RCV004556753

NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)

SNV
Germline

Chr1:161306842

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA334615

rs_786204215

3 SubmittersRCV000168337 RCV001173695 RCV005629905

NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)

SNV
Germline

Chr1:161307310

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA334216

rs_786204119

4 SubmittersRCV000168067 RCV000236489 RCV000790119

NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)

SNV
Germline

Chr5:149004892

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA334024

rs_146920285

14 SubmittersRCV000237055 RCV000713265 RCV000789576 RCV000987610 RCV001082893 RCV001157181 RCV002453563 RCV004535140

NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)

SNV
Germline

Chr5:149062992

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA334114

rs_149762843

6 SubmittersRCV000167994 RCV000336302 RCV001174042 RCV002321674

NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)

SNV
Germline

Chr7:30598809

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA334289

rs_369466037

8 SubmittersRCV000168116 RCV001288968 RCV004020002

NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)

SNV
Germline

Chr8:133259226

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA334740

rs_2233328

8 SubmittersRCV000168421 RCV001173719 RCV001095187 RCV001704227 RCV002321676 RCV006439687

NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)

SNV
Germline

Chr12:32619725

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease
Inborn genetic diseases
FGD4-related disorder

Criteria Provided
Conflicting Classifications

CA334267

rs_138160928

11 SubmittersRCV000168099 RCV000219132 RCV000857634 RCV001094112 RCV001174096 RCV002381537 RCV003982919

NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)

SNV
Germline

Chr12:32640381

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Inborn genetic diseases
FGD4-related disorder

Criteria Provided
Conflicting Classifications

CA346827

rs_61753359

14 SubmittersRCV000236955 RCV000727143 RCV001080120 RCV001114409 RCV002426801 RCV003937521

NM_000304.4(PMP22):c.308A>G (p.Gln103Arg)

SNV
Germline

Chr17:15239482

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA334032

rs_786204064

3 SubmittersRCV000167942 RCV000493971 RCV004782277

NM_000166.6(GJB1):c.116C>T (p.Ala39Val)

SNV
Germline

ChrX:71223823

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA334139

rs_786204095

4 SubmittersRCV000168011 RCV000789271 RCV004998361

NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)

SNV
Germline

ChrX:71224132

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA334230

rs_786204123

6 SubmittersRCV000168077 RCV000714875 RCV000789950 RCV001657932 RCV002515186

NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)

SNV
Germline

Chr12:57500406

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA051288

rs_141340466

3 SubmittersRCV001057120 RCV003987472

NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)

SNV
Germline

Chr16:70277057

Likely pathogenic

Developmental and epileptic encephalopathy, 29
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2N

Criteria Provided
Single Submitter

CA199541

rs_786205157

3 SubmittersRCV000170341 RCV000236174 RCV003311703

NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)

SNV
Germline

Chr16:70255763

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 29
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2N
AARS-related disorder
AARS1-related disorder

Criteria Provided
Conflicting Classifications

CA199544

rs_143370729

9 SubmittersRCV000170342 RCV000236870 RCV000556774 RCV000999715 RCV002460950 RCV003311704 RCV003335174 RCV004751322

NM_170707.4(LMNA):c.1017G>A (p.Ala339=)

SNV
Germline

Chr1:156135981

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA016439

rs_17847242

18 SubmittersRCV000172001 RCV000244350 RCV000276961 RCV000771177 RCV001086138 RCV001172634 RCV004535167

NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)

SNV
Germline

Chr8:24953704

Pathogenic

Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274856

rs_191346286

4 SubmittersRCV000172912 RCV001174357 RCV004821990

NM_000263.4(NAGLU):c.154G>A (p.Val52Met)

SNV
Germline

Chr17:42536426

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA238574

rs_794726880

2 SubmittersRCV000173092 RCV003765083

NM_014874.4(MFN2):c.1148C>T (p.Ala383Val)

SNV
Germline

Chr1:12002091

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA239603

rs_794727035

3 SubmittersRCV000595105 RCV002517672

NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)

SNV
Germline

Chr5:149027870

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA239663

rs_143032801

10 SubmittersRCV000236423 RCV000724178 RCV001157383 RCV001085590 RCV001173837 RCV001157384 RCV002408756 RCV004535197

NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)

SNV
Germline

Chr11:62690389

Conflicting classifications of pathogenicity

Monogenic diabetes
Condition: not provided
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Inborn genetic diseases
Congenital generalized lipodystrophy type 2

Criteria Provided
Conflicting Classifications

CA239675

rs_149466797

10 SubmittersRCV000445495 RCV000724332 RCV001086117 RCV001847805 RCV002326952 RCV003884374

NM_003680.4(YARS1):c.1464C>T (p.Phe488=)

SNV
Germline

Chr1:32779394

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA239841

rs_780574093

3 SubmittersRCV000174316 RCV001496566 RCV002460951

NM_002047.4(GARS1):c.1614-4G>C

SNV
Germline

Chr7:30626230

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA240069

rs_376324026

6 SubmittersRCV000724419 RCV000857179 RCV001088850 RCV001172982

NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=)

SNV
Germline

Chr12:109788502

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240141

rs_373961067

3 SubmittersRCV000174590 RCV001480382 RCV002415743

NM_002047.4(GARS1):c.1716G>A (p.Pro572=)

SNV
Germline

Chr7:30628576

Conflicting classifications of pathogenicity

not specified
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2D
Distal spinal muscular atrophy
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA240295

rs_370608239

7 SubmittersRCV000174724 RCV000305473 RCV000340411 RCV000396920 RCV000724402 RCV001174152 RCV001517036

NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu)

SNV
Germline

Chr11:68938188

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240298

rs_141903179

7 SubmittersRCV000702785 RCV000724757 RCV001173571 RCV002453610

NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=)

SNV
Germline

Chr11:68939545

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA240494

rs_112870015

2 SubmittersRCV000174872 RCV002056927

NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)

SNV
Germline

Chr11:68939671

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
not specified
Inborn genetic diseases
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA240497

rs_147674615

12 SubmittersRCV000712265 RCV001084583 RCV001173329 RCV001336444 RCV001706121 RCV002433765 RCV005410890

NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)

SNV
Germline

Chr11:68939542

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA240499

rs_139926138

8 SubmittersRCV000384551 RCV000724480 RCV001085294 RCV001174195 RCV006439696

NM_020631.6(PLEKHG5):c.1572C>T (p.His524=)

SNV
Germline

Chr1:6470614

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240590

rs_373184968

3 SubmittersRCV000174943 RCV001480963 RCV002390427

NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)

SNV
Germline

Chr1:6469545

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Conflicting Classifications

CA240946

rs_150807400

6 SubmittersRCV000421448 RCV001078661

NM_001605.3(AARS1):c.2521-3C>T

SNV
Germline

Chr16:70253803

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer

Criteria Provided
Conflicting Classifications

CA241180

rs_200586605

13 SubmittersRCV000175419 RCV000198276 RCV000513290 RCV000625091 RCV002460954 RCV005889821 RCV005889819 RCV005889818 RCV005889820

NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=)

SNV
Germline

Chr1:10297036

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA241224

rs_543345616

3 SubmittersRCV000175462 RCV003743621 RCV004020079

NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)

SNV
Germline

Chr11:9856498

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Tip-toe gait
Inborn genetic diseases
SBF2-related disorder

Criteria Provided
Conflicting Classifications

CA201480

rs_141330687

18 SubmittersRCV000175483 RCV000206768 RCV000438792 RCV001094125 RCV001173128 RCV001293356 RCV002444702 RCV003937583

NM_000166.6(GJB1):c.271G>A (p.Val91Met)

SNV
Germline

ChrX:71223978

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275057

rs_756928158

5 SubmittersRCV000175537 RCV000461635 RCV001249761

NM_001005361.3(DNM2):c.216G>A (p.Gln72=)

SNV
Germline

Chr19:10759792

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
DNM2-related disorder

Criteria Provided
Conflicting Classifications

CA241377

rs_368075301

4 SubmittersRCV000175647 RCV001441172 RCV002426839 RCV003965265

NM_030973.4(MED25):c.135-6T>G

SNV
Germline

Chr19:49818565

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases
Lung cancer

Criteria Provided
Conflicting Classifications

CA241807

rs_199743509

7 SubmittersRCV000175954 RCV000654006 RCV000724688 RCV001174293 RCV002516695 RCV005889849

NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile)

SNV
Germline

Chr20:10639847

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242623

rs_781429347

5 SubmittersRCV000176613 RCV002516710 RCV005025282 RCV004992051

NM_002693.3(POLG):c.803G>C (p.Gly268Ala)

SNV
Germline

Chr15:89330133

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder
Hereditary spastic paraplegia
Inborn genetic diseases
Tip-toe gait
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA202319

rs_61752784

21 SubmittersRCV000177165 RCV000233823 RCV000415771 RCV000768291 RCV001121511 RCV001847817 RCV002312719 RCV002227084 RCV002516726

NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)

SNV
Germline

Chr1:10343244

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Neuroblastoma
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202589

rs_147318592

10 SubmittersRCV000177655 RCV000198749 RCV000373531 RCV001173612 RCV001706137

NM_000371.4(TTR):c.384C>T (p.Ala128=)

SNV
Germline

Chr18:31598615

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Amyloidosis, hereditary systemic 1
Charcot-Marie-Tooth disease
Cardiomyopathy
Cardiovascular phenotype
TTR-related disorder

Criteria Provided
Conflicting Classifications

CA245099

rs_143906738

16 SubmittersRCV000178080 RCV000724798 RCV001086449 RCV001173307 RCV001170384 RCV002354458 RCV004553003

NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)

SNV
Germline

Chr14:101979952

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Peripheral neuropathy
See cases
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA245192

rs_794727634

11 SubmittersRCV000178163 RCV000548783 RCV000623418 RCV002247590 RCV001836743 RCV005889956 RCV004798799

NM_170707.4(LMNA):c.643C>T (p.Leu215=)

SNV
Germline

Chr1:156134808

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018363

rs_397517905

6 SubmittersRCV000585450 RCV001804907 RCV001429120 RCV002362912 RCV003996573

NM_001122955.4(BSCL2):c.487-9C>T

SNV
Germline

Chr11:62694720

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA245458

rs_768857448

2 SubmittersRCV000178377 RCV002054113

NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)

SNV
Germline

Chr14:102020027

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease
not specified
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA245619

rs_117846737

11 SubmittersRCV000337451 RCV000724343 RCV001084698 RCV001173186 RCV001818439 RCV004017453 RCV003967433

NM_001605.3(AARS1):c.600C>T (p.Ala200=)

SNV
Germline

Chr16:70271852

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246039

rs_150080663

7 SubmittersRCV000658751 RCV001079599 RCV001115372 RCV002460956

NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)

SNV
Germline

Chr14:102036621

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA246458

rs_141133453

10 SubmittersRCV000724397 RCV001086358 RCV002314658 RCV006439712

NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=)

SNV
Germline

Chr11:68914966

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246644

rs_147409148

6 SubmittersRCV000724748 RCV001088646 RCV001174201 RCV002408776

NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)

SNV
Germline

Chr11:68914943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246650

rs_144681826

6 SubmittersRCV000179404 RCV000525446 RCV002426859

NM_014874.4(MFN2):c.756C>T (p.Asn252=)

SNV
Germline

Chr1:11999035

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247721

rs_137960129

9 SubmittersRCV000197692 RCV000416120 RCV001099688 RCV001088344 RCV001172695 RCV002390442

NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)

SNV
Germline

Chr1:6473327

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA247789

rs_199794578

10 SubmittersRCV000546292 RCV000724237 RCV001098160 RCV002372106 RCV005406899

NM_170707.4(LMNA):c.1551G>A (p.Gln517=)

SNV
Germline

Chr1:156137175

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017421

rs_41314035

21 SubmittersRCV000223139 RCV000231059 RCV000259331 RCV000331994 RCV000309672 RCV000363237 RCV000373945 RCV000392082 RCV000392077 RCV000589163 RCV000620476 RCV000771258 RCV001100975 RCV001093871 RCV001172636 RCV003996588

NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)

SNV
Germline

Chr11:62690840

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248240

rs_144245125

10 SubmittersRCV000657059 RCV001001623 RCV001087807 RCV001847821 RCV002444724

NM_170707.4(LMNA):c.3G>T (p.Met1Ile)

SNV
Germline

Chr1:156114921

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018051

rs_794728598

3 SubmittersRCV000182378 RCV002515313

NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)

SNV
Germline

Chr1:156115168

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
11 conditions

Criteria Provided
Conflicting Classifications

CA017800

rs_794728602

4 SubmittersRCV000621704 RCV000758164 RCV003581582 RCV005042397

NM_170707.4(LMNA):c.252G>C (p.Glu84Asp)

SNV
Germline

Chr1:156115170

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017807

rs_794728586

2 SubmittersRCV000182351 RCV001852311

NM_170707.4(LMNA):c.344A>T (p.Glu115Val)

SNV
Germline

Chr1:156115262

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Peripheral neuropathy
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017931

rs_794728588

6 SubmittersRCV000182354 RCV000223737 RCV000707542 RCV000852405 RCV004786499 RCV004992062

NM_170707.4(LMNA):c.356+1G>A

SNV
Germline

Chr1:156115275

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017954

rs_794728589

3 SubmittersRCV000182355 RCV000689313 RCV005404350

NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)

SNV
Germline

Chr1:156130658

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Cardiomyopathy
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder
11 conditions

Criteria Provided
Conflicting Classifications

CA018032

rs_60864230

13 SubmittersRCV000182356 RCV000204542 RCV001096449 RCV001098187 RCV001098189 RCV001098184 RCV001098185 RCV001096448 RCV001098186 RCV001098188 RCV001191911 RCV001098190 RCV001098191 RCV002372114 RCV003996714 RCV004734805 RCV005042395

NM_170707.4(LMNA):c.471G>A (p.Thr157=)

SNV
Germline

Chr1:156130731

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Familial partial lipodystrophy, Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease type 2B1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018129

rs_150645079

15 SubmittersRCV000182358 RCV000727266 RCV000778038 RCV001081191 RCV001099967 RCV001099969 RCV001101973 RCV001099963 RCV001099964 RCV001099965 RCV001101971 RCV001099966 RCV001099968 RCV001101972 RCV002336452

NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)

SNV
Germline

Chr1:156134811

Conflicting classifications of pathogenicity

Laminopathy
Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary familial dilated cardiomyopathy
Atrioventricular block

Criteria Provided
Conflicting Classifications

CA018379

rs_794728591

14 SubmittersRCV000182360 RCV000208531 RCV000241819 RCV000528116 RCV000725540 RCV001778774 RCV004786500

NM_170707.4(LMNA):c.647G>A (p.Arg216His)

SNV
Germline

Chr1:156134812

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
Dilated cardiomyopathy 1A
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
Ventricular tachycardia
12 conditions

Criteria Provided
Conflicting Classifications

CA018387

rs_757041809

16 SubmittersRCV000474813 RCV000732408 RCV000778039 RCV001172621 RCV001775091 RCV002354479 RCV002478615 RCV003996718 RCV005245490 RCV005208128

NM_170707.4(LMNA):c.768G>A (p.Val256=)

SNV
Germline

Chr1:156134933

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Cardiovascular phenotype
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA018593

rs_794728593

6 SubmittersRCV000182364 RCV000219229 RCV000806148 RCV001199263 RCV002399655 RCV005042396

NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)

SNV
Germline

Chr1:156136021

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Neuronopathy, distal hereditary motor, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA016519

rs_267607623

5 SubmittersRCV000182362 RCV000229718 RCV000247014 RCV000790003

NM_170707.4(LMNA):c.1157+6C>G

SNV
Germline

Chr1:156136127

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016725

rs_374768416

5 SubmittersRCV000182348 RCV000821919 RCV001182769 RCV003996713 RCV005404349

NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)

SNV
Germline

Chr1:156136941

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017193

rs_794728613

4 SubmittersRCV000182396 RCV001775092 RCV001852314

NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)

SNV
Germline

Chr1:156137184

Pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017446

rs_794728595

3 SubmittersRCV000182370 RCV002399656 RCV006461814

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

SNV
Germline

Chr1:156137757

Conflicting classifications of pathogenicity

Monogenic diabetes
Cardiomyopathy
Long QT syndrome
Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA017707

rs_200917748

12 SubmittersRCV000664076 RCV000778037 RCV000852591 RCV001701632 RCV001852310 RCV002464010 RCV004020193 RCV000182349

NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys)

SNV
Germline

Chr1:156137759

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA017711

rs_773169005

4 SubmittersRCV000726056 RCV001182259 RCV001394831

NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)

SNV
Germline

Chr1:11999025

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA275457

rs_794729198

4 SubmittersRCV000184017 RCV000789360 RCV001245336

NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)

SNV
Germline

Chr15:44651677

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA275497

rs_141596008

7 SubmittersRCV000185539 RCV001508762 RCV001847822 RCV002372141 RCV002467649 RCV002467650

NM_001005373.4(LRSAM1):c.1913-1G>A

SNV
Germline

Chr9:127501009

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA347303

rs_756880678

5 SubmittersRCV000192257 RCV000693004 RCV001818450 RCV002408827

NM_002180.3(IGHMBP2):c.449+1G>T

SNV
Germline

Chr11:68908338

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA347307

rs_797044802

6 SubmittersRCV000240669 RCV000789355 RCV003765161

NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)

SNV
Germline

Chr11:68934517

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA347304

rs_756985703

6 SubmittersRCV000192261 RCV003227706 RCV000642641 RCV001808463

NM_002180.3(IGHMBP2):c.2784+1G>T

SNV
Germline

Chr11:68938355

Pathogenic

Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA347308

rs_797044803

2 SubmittersRCV000192264 RCV001852432

NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)

SNV
Germline

Chr17:42543214

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA250326

rs_796052122

5 SubmittersRCV000186582 RCV000423370 RCV001852433 RCV003479050

NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)

SNV
Germline

Chr17:42536639

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA248375

rs_796052123

2 SubmittersRCV000186583 RCV001382879

NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)

SNV
Germline

Chr1:161306414

Pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA347426

rs_121913586

3 SubmittersRCV000194294 RCV000789484 RCV001053594

NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)

SNV
Germline

Chr1:161306426

Pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA347390

rs_281865128

3 SubmittersRCV000193606 RCV000538322 RCV000789471

NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)

SNV
Germline

Chr1:161307311

Pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347381

rs_797044845

4 SubmittersRCV000193325 RCV000688094 RCV000789423 RCV000992318

NM_170707.4(LMNA):c.936+2T>C

SNV
Germline

Chr1:156135314

Conflicting classifications of pathogenicity

Hutchinson-Gilford syndrome
Cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA275974

rs_797045011

4 SubmittersRCV000986430 RCV001798660 RCV003165426 RCV003743622

NM_000530.8(MPZ):c.380G>C (p.Cys127Ser)

SNV
Germline

Chr1:161306776

Pathogenic/Likely pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA204850

rs_797044941

2 SubmittersRCV000190787 RCV001852535

NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)

SNV
Germline

Chr9:127502847

Pathogenic/Likely pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204767

rs_797044913

6 SubmittersRCV000190742 RCV001224770 RCV001173632 RCV006277740

NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)

SNV
Germline

Chr14:102002694

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided
Intellectual disability
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Multiple Submitters
No Conflicts

CA204734

rs_797044901

10 SubmittersRCV000190726 RCV000236127 RCV001261370 RCV001852534 RCV004796088

NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His)

SNV
Germline

Chr14:101980515

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 13
Condition: not provided
Lissencephaly
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA204992

rs_797045177

3 SubmittersRCV000191045 RCV000236582 RCV001291169 RCV002514093

NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter)

SNV
Germline

Chr2:219282052

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

CA250337

rs_797045039

1 SubmittersRCV000191078

NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)

SNV
Germline

Chr7:30632247

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA276142

rs_201358272

6 SubmittersRCV000191089 RCV000860828 RCV000790259 RCV004020306

NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)

SNV
Germline

Chr11:62691116

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
Severe neurodegenerative syndrome with lipodystrophy
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy

Criteria Provided
Conflicting Classifications

CA205518

rs_140676897

8 SubmittersRCV000192598 RCV000766869 RCV001083233 RCV001174400 RCV002467651 RCV002433863 RCV003884385 RCV005049470

NM_001122955.4(BSCL2):c.1005+4G>T

SNV
Germline

Chr11:62691276

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases
BSCL2-related disorder

Criteria Provided
Conflicting Classifications

CA208196

rs_367731146

5 SubmittersRCV000194188 RCV000538782 RCV001721248 RCV002415821 RCV003967493

NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)

SNV
Germline

Chr14:101980380

Conflicting classifications of pathogenicity

not specified
Neuronopathy, distal hereditary motor, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Neurodevelopmental delay
DYNC1H1-related neurological disorders

Criteria Provided
Conflicting Classifications

CA207215

rs_713993043

10 SubmittersRCV000193618 RCV000789731 RCV000726892 RCV001302580 RCV002273981 RCV003985080

NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)

SNV
Germline

Chr14:102001654

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208793

rs_186932188

7 SubmittersRCV000194555 RCV000465307 RCV000389663 RCV001172865 RCV002262783 RCV002336510

NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)

SNV
Germline

Chr14:102006109

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208164

rs_538791873

4 SubmittersRCV000194171 RCV000703958 RCV000842603 RCV002345690

NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)

SNV
Germline

Chr14:102009850

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA209532

rs_140841480

9 SubmittersRCV000194990 RCV000470101 RCV000768205 RCV001083329 RCV001110505 RCV001172871 RCV002317678 RCV003907682

NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)

SNV
Germline

Chr14:102015293

Conflicting classifications of pathogenicity

not specified
Autosomal dominant cerebellar ataxia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207947

rs_150888094

10 SubmittersRCV000194048 RCV000296295 RCV000711540 RCV001087519 RCV001173173 RCV001255793 RCV002317679

NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile)

SNV
Germline

Chr14:102016016

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA206358

rs_797045532

3 SubmittersRCV000193099 RCV000658301 RCV002517930

NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)

SNV
Germline

Chr14:102016909

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA206783

rs_145487328

6 SubmittersRCV000193352 RCV000525360 RCV001705080 RCV002317680 RCV003947603

NM_001376.5(DYNC1H1):c.7884A>G (p.Pro2628=)

SNV
Germline

Chr14:102017123

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA208226

rs_797045534

2 SubmittersRCV000194208 RCV001471433

NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)

SNV
Germline

Chr14:102017157

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA205221

rs_797045535

4 SubmittersRCV000192412 RCV000236144 RCV000660532 RCV002517070

NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)

SNV
Germline

Chr14:102020051

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA209274

rs_146220233

7 SubmittersRCV000194839 RCV000649591 RCV001200093 RCV002314808 RCV003977510

NM_001376.5(DYNC1H1):c.9020G>A (p.Arg3007Gln)

SNV
Germline

Chr14:102027516

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA207349

rs_797045537

2 SubmittersRCV000193691 RCV005089976

NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)

SNV
Germline

Chr14:102027708

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209399

rs_34338935

8 SubmittersRCV000194918 RCV000467298 RCV002314809 RCV004808620

NM_001376.5(DYNC1H1):c.9960G>T (p.Ala3320=)

SNV
Germline

Chr14:102032348

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA207815

rs_746026558

2 SubmittersRCV000193970 RCV002517931

NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=)

SNV
Germline

Chr14:102034110

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
DYNC1H1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208313

rs_760532492

6 SubmittersRCV000194255 RCV000868554 RCV002408856 RCV003955149 RCV003736629

NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=)

SNV
Germline

Chr14:102039471

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA208711

rs_369351359

3 SubmittersRCV000194504 RCV000477295

NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln)

SNV
Germline

Chr14:102040266

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA207106

rs_774840535

3 SubmittersRCV000193548 RCV001547778 RCV003642873

NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)

SNV
Germline

Chr14:102049507

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206944

rs_150286673

8 SubmittersRCV000193444 RCV000472262 RCV001111829 RCV001174057 RCV001721250 RCV002381652

NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)

SNV
Germline

Chr19:10825136

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA207708

rs_753175954

4 SubmittersRCV000193911 RCV000766852 RCV002415823 RCV003507263

NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr20:10644977

Pathogenic

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Multiple Submitters
No Conflicts

CA321376

rs_863223655

9 SubmittersRCV000196949 RCV001038520 RCV004553068 RCV005025314

NM_000214.3(JAG1):c.439+1G>A

SNV
Germline

Chr20:10663962

Pathogenic

Condition: not provided
Atypical coarctation of aorta
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot

Criteria Provided
Multiple Submitters
No Conflicts

CA324540

rs_863223648

8 SubmittersRCV000199991 RCV000845195 RCV001853157 RCV004553065 RCV006605242

NM_014874.4(MFN2):c.58C>T (p.His20Tyr)

SNV
Germline

Chr1:11989226

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
Optic atrophy

Criteria Provided
Conflicting Classifications

CA321399

rs_201715603

9 SubmittersRCV000342413 RCV000556563 RCV000789062 RCV001705126 RCV002354554 RCV004816328

NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)

SNV
Germline

Chr1:11989328

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA323379

rs_61733203

6 SubmittersRCV000653842 RCV001257246 RCV002390523

NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)

SNV
Germline

Chr1:11992690

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Conflicting Classifications

CA320635

rs_863224068

5 SubmittersRCV000532246 RCV000711275 RCV000789063 RCV004767141

NM_014874.4(MFN2):c.314C>T (p.Thr105Met)

SNV
Germline

Chr1:11996158

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cerebellar ataxia
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA279096

rs_863224069

9 SubmittersRCV000201133 RCV000462918 RCV001090177 RCV001726042

NM_014874.4(MFN2):c.541G>A (p.Val181Met)

SNV
Germline

Chr1:11997363

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA323623

rs_863224064

3 SubmittersRCV000199084 RCV001321536 RCV004816326

NM_014874.4(MFN2):c.725A>G (p.His242Arg)

SNV
Germline

Chr1:11999004

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA319860

rs_863224065

4 SubmittersRCV000195514 RCV000690762 RCV000857099

NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)

SNV
Germline

Chr1:11999028

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
not specified
Inborn genetic diseases
MFN2-related disorder
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Multiple symmetric lipomatosis

Criteria Provided
Conflicting Classifications

CA325008

rs_140234726

13 SubmittersRCV000464315 RCV000789405 RCV000767172 RCV001706178 RCV002390522 RCV004530168 RCV005361117

NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)

SNV
Germline

Chr1:12001426

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Charcot-Marie-Tooth disease
Inborn genetic diseases
Optic atrophy

Criteria Provided
Conflicting Classifications

CA323589

rs_147136530

11 SubmittersRCV000199052 RCV000767173 RCV001099689 RCV001087915 RCV001331980 RCV001174298 RCV002444798 RCV004816327

NM_014874.4(MFN2):c.898C>T (p.Arg300Cys)

SNV
Germline

Chr1:12001482

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA319825

rs_863224066

2 SubmittersRCV000195483 RCV001101674 RCV001101673

NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser)

SNV
Germline

Chr1:12005789

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA324235

rs_145654854

6 SubmittersRCV000199695 RCV000692017 RCV001174302 RCV002399737 RCV006452507

NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)

SNV
Germline

Chr1:12007167

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2A2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA322248

rs_369762154

8 SubmittersRCV000197786 RCV001087905 RCV001101761 RCV001335680 RCV002415848

NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)

SNV
Germline

Chr1:12009668

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA321153

rs_144860227

9 SubmittersRCV000334497 RCV000554698 RCV000731890 RCV000790008 RCV002426935

NM_014874.4(MFN2):c.2146G>C (p.Ala716Pro)

SNV
Germline

Chr1:12009668

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA323127

rs_144860227

2 SubmittersRCV000198602 RCV000688561

NM_002437.5(MPV17):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr2:27312499

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA320951

rs_863224074

3 SubmittersRCV000196530 RCV003468891

NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)

SNV
Germline

Chr2:27313059

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Conflicting Classifications

CA323686

rs_863224072

6 SubmittersRCV000734836 RCV000855709 RCV003468889

NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)

SNV
Germline

Chr9:133352708

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4K
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
Mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

CA215067

rs_782190413

7 SubmittersRCV000199387 RCV000202523 RCV000631410 RCV002492907 RCV003314575

NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)

SNV
Germline

Chr1:10232413

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA339473

rs_760368705

4 SubmittersRCV000200683 RCV001311621 RCV003407709 RCV004020475

NM_001365951.3(KIF1B):c.1855C>T (p.Arg619Cys)

SNV
Germline

Chr1:10296659

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA336237

rs_752648536

2 SubmittersRCV000196207 RCV004020474

NM_000530.8(MPZ):c.419C>G (p.Ser140Cys)

SNV
Germline

Chr1:161306737

Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA337957

rs_863224449

2 SubmittersRCV000198501 RCV000789460

NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)

SNV
Germline

Chr5:149010282

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA339546

rs_375970910

8 SubmittersRCV000200778 RCV000297413 RCV000516186 RCV001172844 RCV001095068 RCV001705153 RCV002453723

NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)

SNV
Germline

Chr5:149047862

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339459

rs_776221160

5 SubmittersRCV000200652 RCV000789577 RCV001699003

NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)

SNV
Germline

Chr7:30631490

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Distal spinal muscular atrophy
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2D
Condition: not provided
Tip-toe gait
not specified

Criteria Provided
Conflicting Classifications

CA336802

rs_369894731

8 SubmittersRCV000196909 RCV000290713 RCV000382756 RCV001095174 RCV001509304 RCV002227458 RCV004020470

NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)

SNV
Germline

Chr7:76304165

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2F
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA337796

rs_367857772

11 SubmittersRCV000198307 RCV000765975 RCV001159593 RCV001174181 RCV001531672 RCV002354564 RCV005418015

NM_006096.4(NDRG1):c.63+6T>C

SNV
Germline

Chr8:133284243

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
Inborn genetic diseases
Lung cancer
Uterine corpus endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338456

rs_199597649

8 SubmittersRCV000199191 RCV001162094 RCV001173036 RCV002354566 RCV005893600 RCV005893601 RCV006439775

NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)

SNV
Germline

Chr8:74351325

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337950

rs_863224774

2 SubmittersRCV000198483 RCV002261007

NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)

SNV
Germline

Chr8:74361955

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease recessive intermediate A
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA339304

rs_148508128

11 SubmittersRCV000200426 RCV000416100 RCV001159853 RCV001161257 RCV002492919 RCV002345717 RCV004998412

NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)

SNV
Germline

Chr12:109783632

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Spondylometaphyseal dysplasia, Kozlowski type
Brachyrachia (short spine dysplasia)
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Scapuloperoneal spinal muscular atrophy
Connective tissue disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA337233

rs_138396764

5 SubmittersRCV000197485 RCV000215795 RCV000269145 RCV000339075 RCV000310273 RCV000363721 RCV000399774 RCV002277550 RCV002519574

NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)

SNV
Germline

Chr12:109793968

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
not specified
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA338755

rs_115976458

9 SubmittersRCV000199632 RCV000328738 RCV000332180 RCV000389025 RCV000278046 RCV000293468 RCV000592513 RCV001174133 RCV001701706 RCV002399742

NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu)

SNV
Germline

Chr12:109814516

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA338597

rs_201927283

4 SubmittersRCV000199358 RCV000413068 RCV002433891

NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)

SNV
Germline

Chr15:44564566

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Intellectual disability
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
Hereditary spastic paraplegia
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337736

rs_150571352

9 SubmittersRCV000198221 RCV000609376 RCV001252105 RCV001331387 RCV002363018 RCV001847903 RCV005008134 RCV004696869

NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)

SNV
Germline

Chr16:11556585

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA338014

rs_141862602

9 SubmittersRCV000198589 RCV000789999 RCV001705150 RCV002390528 RCV004998403

NM_001605.3(AARS1):c.2275G>A (p.Glu759Lys)

SNV
Germline

Chr16:70255739

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA337211

rs_137894161

3 SubmittersRCV000197440 RCV000235633 RCV002519573

NM_000304.4(PMP22):c.152A>G (p.His51Arg)

SNV
Germline

Chr17:15259120

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA337251

rs_368908933

5 SubmittersRCV000762229 RCV001172746 RCV001087677 RCV005629511

NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)

SNV
Germline

Chr19:10831026

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA339390

rs_373161548

6 SubmittersRCV000200560 RCV001083309 RCV002453722

NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)

SNV
Germline

Chr19:40394856

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248994

rs_147826200

9 SubmittersRCV000202796 RCV001086843 RCV001172771 RCV001509034 RCV001135981 RCV002453729

NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)

SNV
Germline

Chr19:40396098

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA337174

rs_147587689

11 SubmittersRCV000236667 RCV000416164 RCV001080434 RCV001172781 RCV001129129 RCV002444813 RCV003947662

NM_181882.3(PRX):c.823C>A (p.Leu275Ile)

SNV
Germline

Chr19:40397529

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 4F
Tip-toe gait
Charcot-Marie-Tooth disease
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA335872

rs_200033507

16 SubmittersRCV000195707 RCV000415792 RCV000493878 RCV001094576 RCV001449601 RCV001173081 RCV002426952 RCV003917822

NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)

SNV
Germline

ChrX:71223790

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA337772

rs_768834663

5 SubmittersRCV000198281 RCV000756204 RCV000789176 RCV002433887

NM_000166.6(GJB1):c.163A>G (p.Thr55Ala)

SNV
Germline

ChrX:71223870

Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339416

rs_863224613

3 SubmittersRCV000200595 RCV000789860 RCV005252809

NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)

SNV
Germline

ChrX:71224012

Pathogenic

Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339218

rs_779696968

8 SubmittersRCV000200289 RCV000349313 RCV000790300 RCV002444807 RCV003633486

NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)

SNV
Germline

ChrX:71224254

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA336920

rs_863224471

8 SubmittersRCV000197033 RCV000235360 RCV000754745 RCV000789836

NM_001370298.3(FGD4):c.666A>T (p.Ala222=)

SNV
Germline

Chr12:32582122

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4H
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA338843

rs_139357821

11 SubmittersRCV000199755 RCV000287175 RCV000999867 RCV001311295 RCV001173488 RCV002426945

NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)

SNV
Germline

Chr1:161306462

Conflicting classifications of pathogenicity

7 conditions
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277472

rs_754068936

3 SubmittersRCV000195798 RCV000805947 RCV001762424

NM_002047.4(GARS1):c.998A>T (p.Glu333Val)

SNV
Germline

Chr7:30612212

Likely pathogenic

Charcot-Marie-Tooth disease type 2D
Neuronopathy, distal hereditary motor, type 5A

Criteria Provided
Single Submitter

CA278926

rs_863224873

1 SubmittersRCV000195583

NM_018972.4(GDAP1):c.347T>C (p.Met116Thr)

SNV
Germline

Chr8:74360173

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Conflicting Classifications

CA358501

rs_281865060

4 SubmittersRCV000789147 RCV005409637 RCV003447127

NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter)

SNV
Germline

Chr10:12118846

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Q
Condition: not provided
2-aminoadipic 2-oxoadipic aciduria
2-aminoadipic 2-oxoadipic aciduria
Charcot-Marie-Tooth disease axonal type 2Q

Criteria Provided
Conflicting Classifications

CA210029

rs_770649540

4 SubmittersRCV000198805 RCV000579104 RCV002515470 RCV003883140

NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)

SNV
Germline

Chr11:68906074

Pathogenic

7 conditions
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA351262

rs_863224880

2 SubmittersRCV000584806 RCV003765465

NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn)

SNV
Germline

Chr11:68911552

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA351265

rs_863224881

1 SubmittersRCV002518403

NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)

SNV
Germline

Chr1:11996280

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA279064

rs_863224969

3 SubmittersRCV000201006 RCV000237022 RCV001386993

NM_014874.4(MFN2):c.494A>G (p.His165Arg)

SNV
Germline

Chr1:11997316

Pathogenic

Charcot-Marie-Tooth disease type 2A2
Condition: not provided
Charcot-Marie-Tooth disease type 2
Neuropathy, hereditary motor and sensory, type 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA279075

rs_863224970

6 SubmittersRCV000201063 RCV000235729 RCV000653851 RCV003338460

NM_014874.4(MFN2):c.707C>T (p.Thr236Met)

SNV
Germline

Chr1:11998877

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A2
Peripheral axonal neuropathy
Distal muscle weakness
Distal lower limb amyotrophy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
Autosomal dominant and autosomal recessive MFN2-related disorders

Criteria Provided
Conflicting Classifications

CA277612

rs_773159585

8 SubmittersRCV000201150 RCV000414991 RCV000470638 RCV000857096 RCV001257085 RCV006633905

NM_014874.4(MFN2):c.1126A>G (p.Met376Val)

SNV
Germline

Chr1:12002069

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2A2
Inborn genetic diseases
MFN2-related disorder
Hereditary neuropathy or pain disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279087

rs_863224967

9 SubmittersRCV000793093 RCV001552650 RCV001542541 RCV002051828 RCV002444815 RCV004530201 RCV005865272

NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)

SNV
Germline

Chr1:12011547

Pathogenic

Charcot-Marie-Tooth disease type 2A2
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA279072

rs_863224968

3 SubmittersRCV000201055 RCV001092581 RCV003581583

NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)

SNV
Germline

Chr1:161306746

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA279120

rs_863225025

2 SubmittersRCV000201196 RCV006462081

NM_000530.8(MPZ):c.116A>C (p.His39Pro)

SNV
Germline

Chr1:161307376

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 1B
MPZ-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA347518

rs_371856018

8 SubmittersRCV000206430 RCV000236108 RCV002327052 RCV004760431 RCV004689674

NM_000530.8(MPZ):c.90C>G (p.Ile30Met)

SNV
Germline

Chr1:161307402

Pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA277615

rs_770546306

4 SubmittersRCV000464045 RCV000712322 RCV000789438

NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)

SNV
Germline

Chr6:109760253

Pathogenic

Charcot-Marie-Tooth disease type 4J
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
Condition: not provided
FIG4-related disorder
Yunis-Varon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277617

rs_377357931

11 SubmittersRCV000201166 RCV000623247 RCV001235453 RCV001090680 RCV003897432 RCV005623072

NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)

SNV
Germline

Chr7:76303844

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Neuronopathy, distal hereditary motor, type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA279079

rs_863225022

12 SubmittersRCV000201072 RCV000236739 RCV000622699 RCV000789060 RCV005409633 RCV006439777

NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)

SNV
Germline

Chr7:76304078

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA279092

rs_863225023

4 SubmittersRCV000201127 RCV000236115 RCV000857186

NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)

SNV
Germline

Chr8:74360199

Pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease recessive intermediate A
Condition: not provided
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease recessive intermediate A

Criteria Provided
Multiple Submitters
No Conflicts

CA277623

rs_745663149

7 SubmittersRCV000201184 RCV000661961 RCV000661962 RCV000760441 RCV002478714

NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)

SNV
Germline

Chr17:15231073

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA279101

rs_863225028

4 SubmittersRCV000627222 RCV001173911 RCV001388272

NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)

SNV
Germline

Chr17:15239555

Likely pathogenic

Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA279110

rs_863225027

2 SubmittersRCV000201185 RCV001206556

NM_000166.6(GJB1):c.-103C>T

SNV
Germline

ChrX:71223249

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279082

rs_863224971

13 SubmittersRCV000201088 RCV000228634 RCV001276387 RCV001570001

NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)

SNV
Germline

ChrX:71223751

Pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Inborn genetic diseases
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279084

rs_863224974

7 SubmittersRCV000235929 RCV000234336 RCV002327051 RCV003447516

NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)

SNV
Germline

ChrX:71223931

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279107

rs_863224972

8 SubmittersRCV000201183 RCV000691748 RCV001276388 RCV001567461

NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)

SNV
Germline

ChrX:71224026

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279061

rs_863224973

8 SubmittersRCV000201004 RCV001044069 RCV002274941

NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)

SNV
Germline

ChrX:71224197

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA277620

rs_139643362

5 SubmittersRCV000201175 RCV000307118 RCV000793229

NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:68903954

Pathogenic/Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10575803

rs_886037759

3 SubmittersRCV000240656 RCV000624850 RCV000810966

NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)

SNV
Germline

Chr11:68933854

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Neuronopathy, distal hereditary motor, autosomal dominant
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6153653

rs_780594709

11 SubmittersRCV000240662 RCV000223974 RCV000240667 RCV000693518 RCV000789340 RCV002390539

NM_002109.6(HARS1):c.395C>T (p.Thr132Ile)

SNV
Germline

Chr5:140679789

Pathogenic/Likely pathogenic

Autosomal dominant Charcot-Marie-Tooth disease type 2W
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210252

rs_143473232

3 SubmittersRCV000201522 RCV001092021

NM_002109.6(HARS1):c.401C>A (p.Pro134His)

SNV
Germline

Chr5:140679123

Pathogenic

Autosomal dominant Charcot-Marie-Tooth disease type 2W

No Assertion Criteria Provided

CA279335

rs_863225122

1 SubmittersRCV000201516

NM_002109.6(HARS1):c.525T>G (p.Asp175Glu)

SNV
Germline

Chr5:140678013

Pathogenic

Autosomal dominant Charcot-Marie-Tooth disease type 2W

No Assertion Criteria Provided

CA279336

rs_863225123

1 SubmittersRCV000201520

NM_002109.6(HARS1):c.1090G>T (p.Asp364Tyr)

SNV
Germline

Chr5:140676758

Pathogenic

Autosomal dominant Charcot-Marie-Tooth disease type 2W

No Assertion Criteria Provided

CA279337

rs_863225124

1 SubmittersRCV000201523

NM_006736.6(DNAJB2):c.352+1G>A

SNV
Germline

Chr2:219282062

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 5
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Inborn genetic diseases
DNAJB2-related disorder
Autosomal recessive distal spinal muscular atrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210363

rs_756614404

11 SubmittersRCV000201941 RCV000789088 RCV002051587 RCV002243881 RCV002453731 RCV003407713 RCV003447123

NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr15:44659154

Pathogenic

Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA279893

rs_863225440

2 SubmittersRCV000202379 RCV000989303

NM_003172.4(SURF1):c.107-2A>G

SNV
Germline

Chr9:133354959

Pathogenic

Charcot-Marie-Tooth disease type 4K
Condition: not provided

Criteria Provided
Single Submitter

CA215065

rs_782726390

2 SubmittersRCV000202482 RCV001090696

NM_007126.5(VCP):c.553G>A (p.Glu185Lys)

SNV
Germline

Chr9:35065274

Likely pathogenic

Charcot-Marie-Tooth disease type 2Y
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA213386

rs_864309501

4 SubmittersRCV000202444 RCV002229147 RCV002345722

NM_007126.5(VCP):c.290G>A (p.Gly97Glu)

SNV
Germline

Chr9:35067903

Pathogenic

Charcot-Marie-Tooth disease type 2Y
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

CA213389

rs_864309502

2 SubmittersRCV000202492 RCV001853259

NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)

SNV
Germline

Chr22:30941503

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases
Charcot-Marie-Tooth disease
Distal spinal muscular atrophy
Condition: not provided
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA249695

rs_864309503

18 SubmittersRCV000202547 RCV000624201 RCV000857122 RCV000857123 RCV001091566 RCV003387804

NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)

SNV
Germline

Chr22:30949809

Pathogenic

Charcot-Marie-Tooth disease axonal type 2Z
Condition: not provided
Charcot-Marie-Tooth disease
Global developmental delay
Inborn genetic diseases
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA251315

rs_864309504

9 SubmittersRCV000202460 RCV000522454 RCV000857126 RCV001255406 RCV002433895 RCV005055008

NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)

SNV
Germline

Chr14:91877555

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Hereditary sensorimotor neuropathy with hyperelastic skin

Criteria Provided
Multiple Submitters
No Conflicts

CA248593

rs_864309526

8 SubmittersRCV000756132 RCV001843302 RCV003447124

NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)

SNV
Germline

Chr14:91937058

Conflicting classifications of pathogenicity

Macular degeneration, age-related, 3
Condition: not provided
Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal dominant 2
Cutis laxa
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Hereditary sensorimotor neuropathy with hyperelastic skin
Retinal dystrophy
Macular degeneration, age-related, 3
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal dominant 2
Optic atrophy

Criteria Provided
Conflicting Classifications

CA213355

rs_144288844

11 SubmittersRCV000202614 RCV000521928 RCV001249315 RCV001121879 RCV001843303 RCV003447125 RCV004816351 RCV005396625 RCV004816352

NM_006329.4(FBLN5):c.376G>A (p.Val126Met)

SNV
Germline

Chr14:91936950

Conflicting classifications of pathogenicity

Macular degeneration, age-related, 3
Cutis laxa
Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
FBLN5-related disorder
not specified
Macular degeneration, age-related, 3
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type 1A

Criteria Provided
Conflicting Classifications

CA213354

rs_61734479

11 SubmittersRCV000202603 RCV000405354 RCV000584853 RCV001843304 RCV003917823 RCV005237715 RCV005396626

NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)

SNV
Germline

Chr11:68914878

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA249155

rs_148095551

11 SubmittersRCV000202957 RCV000330776 RCV000528045 RCV000767054 RCV001336447 RCV001173346 RCV002399756

NM_001365088.1(SLC12A6):c.271+17825C>T

SNV
Germline

Chr15:34318585

Conflicting classifications of pathogenicity

not specified
Condition: not provided
SLC12A6-related disorder
Charcot-Marie-Tooth disease, axonal, IIa 2II
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Conflicting Classifications

CA248916

rs_150751809

7 SubmittersRCV000202720 RCV001532255 RCV003977557 RCV005396629

NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)

SNV
Germline

Chr5:149063022

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA339657

rs_864309709

3 SubmittersRCV000203275 RCV001045169 RCV005031774

NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys)

SNV
Germline

Chr19:10793748

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Single Submitter

CA339654

rs_864309705

1 SubmittersRCV000203274

NM_014874.4(MFN2):c.720C>A (p.Phe240Leu)

SNV
Germline

Chr1:11998999

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA349675

rs_864622480

1 SubmittersRCV000205521

NM_014874.4(MFN2):c.1920C>G (p.Leu640=)

SNV
Germline

Chr1:12007100

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA350366

rs_141468012

7 SubmittersRCV000517265 RCV000728516 RCV001087310 RCV001099779 RCV001172999

NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)

SNV
Germline

Chr1:161307386

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA348853

rs_864622732

6 SubmittersRCV000204639 RCV000517562 RCV000789432

NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)

SNV
Germline

Chr5:149004765

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA350004

rs_140985600

9 SubmittersRCV000205903 RCV000373351 RCV000429860 RCV001173203 RCV001095104 RCV001711358 RCV002354576

NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)

SNV
Germline

Chr5:149012634

Pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA349022

rs_370115218

4 SubmittersRCV000204837 RCV000578944 RCV001172827 RCV002500652

NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)

SNV
Germline

Chr5:149027428

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA350032

rs_140829706

6 SubmittersRCV000205943 RCV001153076 RCV001153077 RCV001172839 RCV001675671 RCV002444829

NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)

SNV
Germline

Chr5:149041458

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA349654

rs_148634904

11 SubmittersRCV000205496 RCV000235753 RCV000289039 RCV000726668 RCV001173160 RCV001095079 RCV002372193 RCV004541285

NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)

SNV
Germline

Chr5:149047930

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA348045

rs_864622663

2 SubmittersRCV000203755 RCV005042449

NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)

SNV
Germline

Chr5:149052156

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA348097

rs_146162276

11 SubmittersRCV000203817 RCV000235858 RCV000789697 RCV001153403 RCV001153404 RCV001722118 RCV002381703 RCV004530221

NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)

SNV
Germline

Chr5:149052214

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
SH3TC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA349459

rs_141649676

12 SubmittersRCV000205289 RCV000789695 RCV001081115 RCV001153405 RCV001156005 RCV002415868 RCV004530230 RCV004998431

NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)

SNV
Germline

Chr7:76302962

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
Distal hereditary motor neuropathy type 2
Neuronopathy, distal hereditary motor, type 2B
Distal spinal muscular atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA348720

rs_770272088

11 SubmittersRCV000204495 RCV000789334 RCV000992169 RCV002426966 RCV003993892 RCV004786551 RCV005868108

NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)

SNV
Germline

Chr8:133284281

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
NDRG1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA349792

rs_145871479

13 SubmittersRCV000710163 RCV001173729 RCV001162095 RCV001083085 RCV002321816 RCV003417751 RCV006439785

NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)

SNV
Germline

Chr8:24952832

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease type 2E
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA348057

rs_377121179

7 SubmittersRCV000235949 RCV000764772 RCV001081473 RCV001657993 RCV002390546

NM_006158.5(NEFL):c.968G>C (p.Arg323Pro)

SNV
Germline

Chr8:24955548

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA350731

rs_864622499

3 SubmittersRCV000206730 RCV000518282 RCV002381708

NM_006158.5(NEFL):c.65C>A (p.Pro22His)

SNV
Germline

Chr8:24956451

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E
Condition: not provided
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease, dominant intermediate G

Criteria Provided
Conflicting Classifications

CA349198

rs_267607538

3 SubmittersRCV000205038 RCV004998422 RCV004796100

NM_018972.4(GDAP1):c.579+1G>A

SNV
Germline

Chr8:74361979

Pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA349140

rs_864622501

8 SubmittersRCV000204949 RCV000789161 RCV001795333 RCV001839450 RCV002288831

NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)

SNV
Germline

Chr10:62813412

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA350841

rs_864622273

3 SubmittersRCV000206846 RCV000431412 RCV000999872

NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)

SNV
Germline

Chr11:62694610

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
Congenital generalized lipodystrophy type 2
not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA349870

rs_369806785

6 SubmittersRCV000276983 RCV000329673 RCV000427504 RCV000727441 RCV001087921 RCV001847934 RCV002372202

NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)

SNV
Germline

Chr11:9785298

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Tip-toe gait
Inborn genetic diseases
SBF2-related disorder

Criteria Provided
Conflicting Classifications

CA350400

rs_146230559

9 SubmittersRCV000206356 RCV000268529 RCV001000985 RCV001173798 RCV002227459 RCV002336565 RCV003967553

NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)

SNV
Germline

Chr11:9816999

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA349375

rs_145351367

8 SubmittersRCV000205190 RCV000761762 RCV001094185 RCV001173815 RCV004998426

NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)

SNV
Germline

Chr11:9968517

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA350504

rs_199894823

7 SubmittersRCV000206478 RCV000413369 RCV001094223 RCV001172793 RCV002390547

NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)

SNV
Germline

Chr14:102016414

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease
Condition: not provided
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA349726

rs_376901405

4 SubmittersRCV000205590 RCV001173860 RCV001657995 RCV003417750

NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)

SNV
Germline

Chr19:40397136

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA349607

rs_117336941

10 SubmittersRCV000576841 RCV000762017 RCV001084142 RCV001173957 RCV001795335

NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)

SNV
Germline

ChrX:71224351

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA349245

rs_864622215

4 SubmittersRCV000205076 RCV000236627 RCV002466254

NM_000169.3(GLA):c.247G>A (p.Asp83Asn)

SNV
Germline

ChrX:101403933

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA030449

rs_782722577

14 SubmittersRCV000471970 RCV000596614 RCV002426973 RCV005625447

NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)

SNV
Germline

Chr1:156130708

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA088193

rs_58917027

7 SubmittersRCV000208276 RCV000536399 RCV000611547 RCV002327072 RCV006259209 RCV006277749

NM_170707.4(LMNA):c.937-8C>A

SNV
Germline

Chr1:156135893

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA054885

rs_751707982

7 SubmittersRCV000207998 RCV000545586 RCV000777940 RCV001096749 RCV001096751 RCV001098487 RCV001096746 RCV001096747 RCV001096748 RCV001098486 RCV001096750 RCV001096752 RCV001098488 RCV001697242 RCV005893800

NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro)

SNV
Germline

ChrX:107628674

Pathogenic

Charcot-Marie-Tooth disease X-linked recessive 5

No Assertion Criteria Provided

CA352184

rs_869025594

1 SubmittersRCV000208733

NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala)

SNV
Germline

Chr11:9816961

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA358114

rs_869312963

2 SubmittersRCV000210630 RCV003743643

NM_030962.4(SBF2):c.3602A>G (p.His1201Arg)

SNV
Germline

Chr11:9832274

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA358258

rs_869312970

2 SubmittersRCV000210731 RCV001853377

NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)

SNV
Germline

Chr16:75635982

Pathogenic/Likely pathogenic

Inborn genetic diseases
Progressive cerebellar ataxia
Abnormal cerebral white matter morphology
Abnormal pyramidal sign
Congenital sensorineural hearing impairment
Optic neuropathy
Autosomal recessive nonsyndromic hearing loss 89
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS
Deafness, congenital, and adult-onset progressive leukoencephalopathy
KARS1-related disorder
KARS-related disorder
Condition: not provided
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
Charcot-Marie-Tooth disease recessive intermediate B
Hearing loss, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA358202

rs_201650281

18 SubmittersRCV000210691 RCV000681462 RCV000986183 RCV001293661 RCV001293662 RCV001526444 RCV001265601 RCV001775672 RCV002463662 RCV003147413 RCV004699121

NM_170707.4(LMNA):c.346C>T (p.Leu116=)

SNV
Germline

Chr1:156115264

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10576363

rs_876657491

6 SubmittersRCV000213438 RCV000771953 RCV000904865 RCV002336594 RCV003997707

NM_170707.4(LMNA):c.449C>T (p.Thr150Ile)

SNV
Germline

Chr1:156130709

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10576365

rs_869069617

6 SubmittersRCV000220590 RCV003319335 RCV003486773 RCV004020622 RCV006462114

NM_170707.4(LMNA):c.1488+8G>A

SNV
Germline

Chr1:156137036

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA050369

rs_762836610

6 SubmittersRCV000220172 RCV000725758 RCV001088656 RCV001173413 RCV002390573

NM_170707.4(LMNA):c.1381-6C>T

SNV
Germline

Chr1:156136915

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050164

rs_371635492

7 SubmittersRCV000215844 RCV000416195 RCV001180052 RCV001087904 RCV003997704

NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)

SNV
Germline

Chr11:68906109

Pathogenic/Likely pathogenic

Distal spinal muscular atrophy
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
IGHMBP2-related disorder
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6153192

rs_200089714

9 SubmittersRCV000221711 RCV000482426 RCV001059408 RCV003335233 RCV004764781

NM_000530.8(MPZ):c.424G>T (p.Val142Phe)

SNV
Germline

Chr1:161306732

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA10577217

rs_876661257

2 SubmittersRCV000216501 RCV001854760

NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser)

SNV
Germline

Chr1:6468378

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561151

rs_202191898

5 SubmittersRCV000554274 RCV001101747 RCV001088219 RCV004020708

NM_006736.6(DNAJB2):c.230-2A>G

SNV
Germline

Chr2:219281937

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 5
Neuronopathy, distal hereditary motor, autosomal recessive 5
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Cervical cancer
Thyroid cancer, nonmedullary, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2122889

rs_369661561

9 SubmittersRCV000214459 RCV000545700 RCV001535597 RCV002444871 RCV005895077 RCV005895078 RCV005895076

NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)

SNV
Germline

Chr5:149008949

Conflicting classifications of pathogenicity

Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Tip-toe gait
Delayed speech and language development
Tip-toe gait
Pes cavus
limited range of motion of the upper ankle
Inborn genetic diseases
SH3TC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3498756

rs_139192433

13 SubmittersRCV000214292 RCV000355518 RCV000473910 RCV001095006 RCV001173826 RCV001352888 RCV001549281 RCV002450641 RCV004529380 RCV004998493

NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)

SNV
Germline

Chr5:149028348

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3499187

rs_749850181

3 SubmittersRCV000214436 RCV000789720 RCV001854739

NM_006158.5(NEFL):c.986T>C (p.Leu329Pro)

SNV
Germline

Chr8:24955530

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease type 1F
Condition: not provided
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA10577361

rs_876661290

4 SubmittersRCV000764773 RCV000762503 RCV000535984

NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)

SNV
Germline

Chr11:68914968

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153412

rs_200566598

5 SubmittersRCV000222500 RCV000296226 RCV000792933 RCV002444872

NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)

SNV
Germline

Chr11:68929315

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases
IGHMBP2-related disorder
Thyroid cancer, nonmedullary, 1
Melanoma
Malignant tumor of esophagus
Gastric cancer
Uterine carcinosarcoma
Ovarian serous cystadenocarcinoma
not specified

Criteria Provided
Conflicting Classifications

CA6153539

rs_35193202

14 SubmittersRCV000407593 RCV000726894 RCV001079219 RCV001173579 RCV002338693 RCV004547564 RCV005895065 RCV005895066 RCV005895061 RCV005895062 RCV005895064 RCV005895063 RCV006439799

NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)

SNV
Germline

Chr11:68933864

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Neurodevelopmental disorder
Inborn genetic diseases
IGHMBP2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6153662

rs_145226920

20 SubmittersRCV000219401 RCV000235082 RCV000539394 RCV000780353 RCV001172566 RCV002277579 RCV002390588 RCV004739623

NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)

SNV
Germline

Chr11:68939621

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6154050

rs_141873613

6 SubmittersRCV000400759 RCV000532451 RCV001173344 RCV001722203 RCV002433941

NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)

SNV
Germline

Chr11:95835367

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B1
MTMR2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6239839

rs_116750638

11 SubmittersRCV000219297 RCV001084287 RCV001172718 RCV001112850 RCV003929922 RCV006439802

NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)

SNV
Germline

Chr11:95845003

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6240028

rs_146572467

10 SubmittersRCV000234705 RCV000724937 RCV001094211 RCV001172709 RCV002381752 RCV004998494

NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)

SNV
Germline

Chr11:95923899

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA6240489

rs_574213477

4 SubmittersRCV000712333 RCV001062024 RCV001172710 RCV001706241

NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala)

SNV
Germline

Chr12:109788696

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780048

rs_760044422

6 SubmittersRCV000416067 RCV000687240 RCV001172893 RCV002408938

NM_021625.5(TRPV4):c.704A>G (p.Tyr235Cys)

SNV
Germline

Chr12:109802999

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases
Spondyloepimetaphyseal dysplasia, Maroteaux type

Criteria Provided
Conflicting Classifications

CA6780470

rs_754848195

4 SubmittersRCV000215648 RCV001203030 RCV002372235 RCV006605255

NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)

SNV
Germline

Chr17:15230953

Pathogenic

Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA10577555

rs_775019409

3 SubmittersRCV000213954 RCV000790160 RCV005090139

NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)

SNV
Germline

Chr20:10641799

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764423

rs_149419694

7 SubmittersRCV000220286 RCV000476409 RCV000765486 RCV002429080 RCV005396730

NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)

SNV
Germline

Chr20:10644895

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764558

rs_149949294

3 SubmittersRCV000223517 RCV001322306 RCV002485443

NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)

SNV
Germline

Chr20:10652494

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9765038

rs_768317581

4 SubmittersRCV000213865 RCV001369966 RCV002444870 RCV002485440

NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)

SNV
Germline

Chr20:10656450

Pathogenic

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot

Criteria Provided
Multiple Submitters
No Conflicts

CA10577624

rs_876660980

7 SubmittersRCV000218714 RCV000820770 RCV004547565 RCV005025367

NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)

SNV
Germline

ChrX:71224079

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA10577658

rs_876661119

3 SubmittersRCV000216227 RCV000789170 RCV001294422

NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)

SNV
Germline

ChrX:71224263

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA10577663

rs_116840821

3 SubmittersRCV000214191 RCV000789222 RCV003447126

NM_002180.3(IGHMBP2):c.548-10T>G

SNV
Germline

Chr11:68911430

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
IGHMBP2-related disorder
Uterine corpus endometrial carcinoma
Cervical cancer
Sarcoma

Criteria Provided
Conflicting Classifications

CA6153325

rs_139207271

10 SubmittersRCV000224372 RCV000266650 RCV001084295 RCV001172567 RCV004547568 RCV005895095 RCV005895093 RCV005895094

NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys)

SNV
Germline

Chr12:109814683

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10581393

rs_878853090

4 SubmittersRCV000224735 RCV000549708 RCV005502769

NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)

SNV
Germline

Chr11:68936288

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6153783

rs_151079750

7 SubmittersRCV000224756 RCV000557414 RCV000790280 RCV001173328 RCV003235149 RCV006249617

NM_000304.4(PMP22):c.245T>C (p.Leu82Pro)

SNV
Germline

Chr17:15239545

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA10581428

rs_878853113

3 SubmittersRCV000224582 RCV001050263

NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)

SNV
Germline

Chr15:44565954

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA10581479

rs_371334506

5 SubmittersRCV000224979 RCV000498920 RCV000706352

NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr15:44633619

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535486

rs_765061840

6 SubmittersRCV000224985 RCV000757917 RCV001565198 RCV005008177

NM_014874.4(MFN2):c.2256C>G (p.Tyr752Ter)

SNV
Germline

Chr1:12011547

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA10581724

rs_863224968

1 SubmittersRCV000231193

NM_170707.4(LMNA):c.254T>A (p.Leu85His)

SNV
Germline

Chr1:156115172

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA10581727

rs_28933090

1 SubmittersRCV000225805

NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)

SNV
Germline

Chr1:156135304

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10581728

rs_878855234

2 SubmittersRCV000230197 RCV004806266

NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn)

SNV
Germline

Chr1:156136054

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10581729

rs_878855231

3 SubmittersRCV000227450 RCV000313924 RCV003165656

NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)

SNV
Germline

Chr1:156136311

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
11 conditions
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049655

rs_755686359

6 SubmittersRCV000227837 RCV000597022 RCV001184022 RCV002479935 RCV004020899 RCV003998891

NM_000530.8(MPZ):c.200G>A (p.Arg67His)

SNV
Germline

Chr1:161307292

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
not specified
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease dominant intermediate D
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease
Neuropathy, congenital hypomyelinating, 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1210217

rs_201720099

10 SubmittersRCV000228125 RCV000479710 RCV001097630 RCV001097631 RCV001097632 RCV001174319 RCV001097629 RCV001812639 RCV002417996

NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)

SNV
Germline

Chr5:149026635

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498881

rs_140307699

7 SubmittersRCV000233589 RCV001173825 RCV001332526 RCV001697618 RCV002436039

NM_024577.4(SH3TC2):c.1861C>T (p.Arg621Cys)

SNV
Germline

Chr5:149027871

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499103

rs_201403149

2 SubmittersRCV000232630 RCV004791363

NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)

SNV
Germline

Chr5:149028487

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499219

rs_748870159

4 SubmittersRCV000225941 RCV000355598 RCV000859073 RCV001393032 RCV002392718

NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp)

SNV
Germline

Chr8:133239090

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4886454

rs_141078746

3 SubmittersRCV000232438 RCV001164014 RCV002379007

NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)

SNV
Germline

Chr9:127487695

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Multiple Submitters
No Conflicts

CA10582612

rs_138226428

4 SubmittersRCV000231111

NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys)

SNV
Germline

Chr9:127501027

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA5247205

rs_201284198

3 SubmittersRCV000227816 RCV005895390

NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser)

SNV
Germline

Chr11:62690468

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6053260

rs_377310581

3 SubmittersRCV000234334 RCV003352809 RCV004777639

NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter)

SNV
Germline

Chr11:95849835

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA10582955

rs_757563721

1 SubmittersRCV000228911

NM_030962.4(SBF2):c.4107A>C (p.Ser1369=)

SNV
Germline

Chr11:9812580

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881062

rs_769205402

3 SubmittersRCV001111099 RCV001398302 RCV002321887

NM_030962.4(SBF2):c.3843A>G (p.Thr1281=)

SNV
Germline

Chr11:9816975

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881124

rs_147597665

6 SubmittersRCV000232227 RCV001111100 RCV001173990 RCV001532150 RCV002365217

NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)

SNV
Germline

Chr12:109794442

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Inborn genetic diseases
TRPV4-related disorder

Criteria Provided
Conflicting Classifications

CA6780257

rs_34227547

8 SubmittersRCV000235250 RCV000230906 RCV001173243 RCV002379021 RCV004547612

NM_001376.5(DYNC1H1):c.3156+5G>A

SNV
Germline

Chr14:101994329

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351951

rs_200905961

5 SubmittersRCV000234356 RCV000500169 RCV000728924 RCV002321867

NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)

SNV
Germline

Chr14:102008331

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Condition: not provided
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7352512

rs_151001016

10 SubmittersRCV000230174 RCV000392925 RCV001579341 RCV002315697 RCV003483585 RCV004745298

NM_025137.4(SPG11):c.1602+10T>G

SNV
Germline

Chr15:44648856

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
not specified
Gastric cancer

Criteria Provided
Conflicting Classifications

CA7535513

rs_201535432

5 SubmittersRCV000230118 RCV002261019 RCV002467686 RCV002467687 RCV005238771 RCV005895383

NM_001605.3(AARS1):c.2593G>A (p.Gly865Ser)

SNV
Germline

Chr16:70253728

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8140358

rs_757295540

2 SubmittersRCV000233528 RCV006272379

NM_001005361.3(DNM2):c.210T>C (p.Ile70=)

SNV
Germline

Chr19:10759786

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10583709

rs_878854149

3 SubmittersRCV000232026 RCV001423278 RCV002418002

NM_181882.3(PRX):c.1574T>C (p.Val525Ala)

SNV
Germline

Chr19:40396778

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444239

rs_149715830

15 SubmittersRCV000228501 RCV000431721 RCV000658836 RCV000789549 RCV001094584 RCV002401915

NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)

SNV
Germline

ChrX:71223915

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10583953

rs_878853697

4 SubmittersRCV000231475 RCV000484101 RCV000789229 RCV004020742

NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)

SNV
Germline

Chr12:32582196

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6506617

rs_142609007

6 SubmittersRCV000233379 RCV000558088 RCV001112953 RCV002450716

NM_007289.4(MME):c.654+1G>A

SNV
Germline

Chr3:155116987

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T

No Assertion Criteria Provided

CA10584005

rs_1057519023

1 SubmittersRCV000234889

NM_007289.4(MME):c.661C>T (p.Gln221Ter)

SNV
Germline

Chr3:155118752

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T

No Assertion Criteria Provided

CA10584006

rs_879253751

1 SubmittersRCV000234916

NM_007289.4(MME):c.1861T>C (p.Cys621Arg)

SNV
Germline

Chr3:155168572

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T
Peripheral neuropathy

Criteria Provided
Single Submitter

CA10584007

rs_879253752

2 SubmittersRCV000234863 RCV001814126

NM_007289.4(MME):c.439+2T>A

SNV
Germline

Chr3:155116561

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T

No Assertion Criteria Provided

CA10584008

rs_1057519024

1 SubmittersRCV000234893

NM_007289.4(MME):c.655-2A>G

SNV
Germline

Chr3:155118744

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T
Condition: not provided

Criteria Provided
Single Submitter

CA2675233

rs_765591205

2 SubmittersRCV000234912 RCV005090187

NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg)

SNV
Germline

Chr9:127502795

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10584021

rs_879253755

3 SubmittersRCV000234917 RCV001171878

NM_014874.4(MFN2):c.730G>T (p.Val244Leu)

SNV
Germline

Chr1:11999009

Pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA10584070

rs_879253777

1 SubmittersRCV000235088

NM_014874.4(MFN2):c.479T>G (p.Val160Gly)

SNV
Germline

Chr1:11997301

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA10584072

rs_879253861

1 SubmittersRCV000235092

NM_014874.4(MFN2):c.526G>A (p.Gly176Ser)

SNV
Germline

Chr1:11997348

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584073

rs_879253862

2 SubmittersRCV000235058 RCV001007825 RCV005055787

NM_014874.4(MFN2):c.730G>A (p.Val244Met)

SNV
Germline

Chr1:11999009

Pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10584074

rs_879253777

4 SubmittersRCV000235053 RCV000693266 RCV005255580

NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro)

SNV
Germline

Chr1:12007126

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA10584075

rs_763492075

1 SubmittersRCV000235085

NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)

SNV
Germline

Chr1:32797768

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate C

Criteria Provided
Multiple Submitters
No Conflicts

CA10584076

rs_121908834

2 SubmittersRCV000235060

NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)

SNV
Germline

Chr4:153324126

Likely pathogenic

Charcot-Marie-Tooth disease type 2R

Criteria Provided
Single Submitter

CA10584080

rs_879253863

2 SubmittersRCV000235081

NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)

SNV
Germline

Chr8:81444935

Pathogenic/Likely pathogenic

Peripheral neuropathy
Charcot-Marie-Tooth disease, demyelinating, type 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10584083

rs_879253869

3 SubmittersRCV000235076 RCV000736030 RCV002518417

NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr9:133352696

Pathogenic

Leigh syndrome
Condition: not provided
SURF1-related disorder
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10584085

rs_147816470

6 SubmittersRCV000235079 RCV000578885 RCV004554757 RCV005044488 RCV005890956

NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)

SNV
Germline

ChrX:130133373

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked recessive 4
Combined oxidative phosphorylation deficiency
Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA10515294

rs_202219398

4 SubmittersRCV000235074 RCV000538656 RCV000837953 RCV003319977

NM_000166.6(GJB1):c.-16-2A>G

SNV
Germline

ChrX:71223690

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA10584089

rs_751230398

1 SubmittersRCV000235072

NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)

SNV
Germline

Chr1:161306753

Pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA10584090

rs_879253858

2 SubmittersRCV000235064 RCV000789436

NM_014874.4(MFN2):c.179C>T (p.Thr60Met)

SNV
Germline

Chr1:11992558

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Optic atrophy

Criteria Provided
Conflicting Classifications

CA598770

rs_138345244

5 SubmittersRCV000236416 RCV000275642 RCV000653930 RCV002411073 RCV004816451

NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)

SNV
Germline

Chr1:11998823

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584097

rs_879253925

4 SubmittersRCV000236657 RCV000761252 RCV000789064 RCV001362177

NM_014874.4(MFN2):c.809T>C (p.Met270Thr)

SNV
Germline

Chr1:11999088

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA598921

rs_771996573

3 SubmittersRCV000236640 RCV000818378 RCV001027467

NM_014874.4(MFN2):c.838C>T (p.Arg280Cys)

SNV
Germline

Chr1:12001422

Likely pathogenic

Condition: not provided
Multiple system atrophy, cerebellar type
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10584101

rs_879253957

4 SubmittersRCV000235764 RCV002307469 RCV005055788

NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro)

SNV
Germline

Chr1:12002027

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584102

rs_879254176

2 SubmittersRCV000235743 RCV002518453

NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)

SNV
Germline

Chr1:12002034

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA10584103

rs_879254011

8 SubmittersRCV000235416 RCV000463885 RCV000789067 RCV002429150 RCV003984833

NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter)

SNV
Germline

Chr1:12004029

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Neuropathy, hereditary motor and sensory, type 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA10584104

rs_879253939

4 SubmittersRCV000235812 RCV000789407 RCV002518431 RCV003314584

NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp)

SNV
Germline

Chr1:12007074

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA599268

rs_772701127

2 SubmittersRCV000236397 RCV001857805

NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)

SNV
Germline

Chr1:156114992

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA054268

rs_61578124

7 SubmittersRCV000236179 RCV001079756 RCV001182288 RCV002392726 RCV003998902 RCV005044491

NM_170707.4(LMNA):c.224C>T (p.Ser75Phe)

SNV
Germline

Chr1:156115142

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584113

rs_879253975

2 SubmittersRCV000236603 RCV002518434

NM_170707.4(LMNA):c.242A>G (p.Tyr81Cys)

SNV
Germline

Chr1:156115160

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584114

rs_879254319

2 SubmittersRCV000237077 RCV001351546

NM_170707.4(LMNA):c.513+1G>A

SNV
Germline

Chr1:156130774

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10584120

rs_397517904

3 SubmittersRCV000235237 RCV001379216 RCV004020919

NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)

SNV
Germline

Chr1:156135955

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Restrictive dermopathy 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10584124

rs_879253898

7 SubmittersRCV000236116 RCV001176603 RCV001857795 RCV002379039 RCV003227732 RCV003998898

NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)

SNV
Germline

Chr1:156135968

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dehydrated hereditary stomatocytosis 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA048759

rs_138592977

12 SubmittersRCV000727308 RCV000771975 RCV001174248 RCV000653901 RCV002401922 RCV005863071 RCV003998912

NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln)

SNV
Germline

Chr1:156136045

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584125

rs_267607634

2 SubmittersRCV000236290 RCV001208634

NM_170707.4(LMNA):c.1157+1G>T

SNV
Germline

Chr1:156136122

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10584128

rs_267607590

2 SubmittersRCV000236305 RCV001857811

NM_170707.4(LMNA):c.1160T>C (p.Leu387Pro)

SNV
Germline

Chr1:156136216

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584130

rs_879253934

2 SubmittersRCV000235338 RCV000653922

NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)

SNV
Germline

Chr1:156137027

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
11 conditions
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Hutchinson-Gilford syndrome
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA050321

rs_200466188

16 SubmittersRCV000235878 RCV000653862 RCV000681642 RCV001098789 RCV001100613 RCV001100618 RCV001100620 RCV001100614 RCV001100615 RCV001100616 RCV001100617 RCV001100889 RCV001180056 RCV001100619 RCV002392729 RCV002494678 RCV003998908 RCV005890962

NM_170707.4(LMNA):c.1489-2A>G

SNV
Germline

Chr1:156137111

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10584131

rs_879254081

3 SubmittersRCV000236890 RCV002392730 RCV002518441

NM_170707.4(LMNA):c.1609-8C>G

SNV
Germline

Chr1:156137646

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA10584134

rs_879253917

3 SubmittersRCV000235897 RCV002518429 RCV005890957

NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)

SNV
Germline

Chr1:156139089

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA051914

rs_374926367

11 SubmittersRCV000727363 RCV001079513 RCV001184766 RCV002418036 RCV005044490 RCV003998896 RCV006263794

NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)

SNV
Germline

Chr1:161306116

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate D
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Neuropathy, congenital hypomyelinating, 2
Charcot-Marie-Tooth disease type 1B
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1210099

rs_202176679

8 SubmittersRCV000236004 RCV000279139 RCV000373587 RCV000555621 RCV000790309 RCV001093884 RCV001093885 RCV001658084 RCV002365233

NM_000530.8(MPZ):c.584+2T>G

SNV
Germline

Chr1:161306327

Pathogenic

Charcot-Marie-Tooth disease type 1B
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA10584142

rs_879254054

4 SubmittersRCV000015261 RCV000235519 RCV000790116 RCV005090191

NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)

SNV
Germline

Chr1:161306800

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10584144

rs_879254038

10 SubmittersRCV000237035 RCV000638165 RCV000790120 RCV004584640 RCV004020925

NM_000530.8(MPZ):c.176C>T (p.Ser59Leu)

SNV
Germline

Chr1:161307316

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA10584146

rs_879254297

4 SubmittersRCV000236584 RCV003741169

NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)

SNV
Germline

Chr1:161307359

Conflicting classifications of pathogenicity

Condition: not provided
7 conditions
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
MPZ-related disorder

Criteria Provided
Conflicting Classifications

CA1210227

rs_200151353

5 SubmittersRCV000236516 RCV000763755 RCV001477198 RCV002379053 RCV004541469

NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)

SNV
Germline

Chr1:6472613

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases
PLEKHG5-related disorder

Criteria Provided
Conflicting Classifications

CA561679

rs_140202670

9 SubmittersRCV000236410 RCV001096420 RCV001086658 RCV001329769 RCV002379038 RCV004754366

NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)

SNV
Germline

Chr1:6474583

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases
PLEKHG5-related disorder
not specified
Hereditary neuropathy or pain disorder

Criteria Provided
Conflicting Classifications

CA561882

rs_141032388

9 SubmittersRCV000313379 RCV000761631 RCV001083174 RCV002319471 RCV003955384 RCV005238776 RCV006629104

NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)

SNV
Germline

Chr5:149007044

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498695

rs_200728983

7 SubmittersRCV000236255 RCV000790211 RCV001064903 RCV002450724

NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe)

SNV
Germline

Chr5:149012622

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498833

rs_201805333

6 SubmittersRCV000235844 RCV000473334 RCV002321909

NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)

SNV
Germline

Chr5:149026671

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498889

rs_575937427

8 SubmittersRCV000236841 RCV000477370 RCV000767114 RCV000765819 RCV001173155 RCV002436061

NM_024577.4(SH3TC2):c.2551C>T (p.Arg851Trp)

SNV
Germline

Chr5:149027181

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498971

rs_144655516

3 SubmittersRCV000236438 RCV001037566 RCV003243030

NM_024577.4(SH3TC2):c.2488G>T (p.Glu830Ter)

SNV
Germline

Chr5:149027244

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA10584269

rs_879254317

2 SubmittersRCV000235715 RCV005031827

NM_024577.4(SH3TC2):c.2306A>G (p.Glu769Gly)

SNV
Germline

Chr5:149027426

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499028

rs_151317042

3 SubmittersRCV000236615 RCV000695202 RCV002444934

NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu)

SNV
Germline

Chr5:149028537

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3499236

rs_144764160

4 SubmittersRCV000235963 RCV001079256 RCV002338767 RCV004541466

NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)

SNV
Germline

Chr5:149038296

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Tip-toe gait
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
not specified
SH3TC2-related disorder
Cervical cancer

Criteria Provided
Conflicting Classifications

CA3499333

rs_139653980

9 SubmittersRCV000728925 RCV001174028 RCV001689763 RCV002460063 RCV002519835 RCV003387818 RCV004529417 RCV005890970

NM_024577.4(SH3TC2):c.836A>G (p.Tyr279Cys)

SNV
Germline

Chr5:149038460

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499364

rs_200215156

3 SubmittersRCV000236277 RCV002057248 RCV002436053

NM_014845.6(FIG4):c.506A>C (p.Tyr169Ser)

SNV
Germline

Chr6:109735158

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3955824

rs_770278572

2 SubmittersRCV000235541 RCV005090195

NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)

SNV
Germline

Chr6:109760319

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10584275

rs_879253926

3 SubmittersRCV000236745 RCV001857797 RCV003447128

NM_014845.6(FIG4):c.2459+1G>A

SNV
Germline

Chr6:109792665

Pathogenic

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3956399

rs_747768373

7 SubmittersRCV000236022 RCV000622554 RCV001243544 RCV001658078 RCV003955389

NM_002047.4(GARS1):c.302G>A (p.Arg101His)

SNV
Germline

Chr7:30598875

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, type 5A
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2D
not specified

Criteria Provided
Conflicting Classifications

CA4205644

rs_200887429

7 SubmittersRCV000235455 RCV000333675 RCV000276269 RCV000526782 RCV001095168 RCV004020918

NM_002047.4(GARS1):c.787G>A (p.Val263Ile)

SNV
Germline

Chr7:30609636

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4205827

rs_77518956

4 SubmittersRCV000585481 RCV001080429 RCV004020921

NM_002047.4(GARS1):c.1359+1G>A

SNV
Germline

Chr7:30617279

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10584282

rs_868796615

2 SubmittersRCV000236152 RCV003743689

NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)

SNV
Germline

Chr7:30628614

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4206066

rs_374378925

6 SubmittersRCV000235889 RCV000857180 RCV002518450 RCV003993906

NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)

SNV
Germline

Chr7:76302792

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Inborn genetic diseases
HSPB1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4306247

rs_367662394

9 SubmittersRCV000416180 RCV001086814 RCV001174176 RCV002418035 RCV004532976 RCV004782326

NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe)

SNV
Germline

Chr8:24953786

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10584291

rs_879253927

4 SubmittersRCV000640659 RCV000857196 RCV001711645

NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)

SNV
Germline

Chr8:74360202

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Conflicting Classifications

CA10584293

rs_879254005

2 SubmittersRCV000236743 RCV000805046

NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)

SNV
Germline

Chr8:74360225

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4785095

rs_139808557

7 SubmittersRCV000474009 RCV000767009 RCV005044489 RCV004020916

NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)

SNV
Germline

Chr8:74364059

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Multiple Submitters
No Conflicts

CA4785198

rs_770501034

8 SubmittersRCV000235362 RCV000664207 RCV000789164 RCV001206561

NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)

SNV
Germline

Chr8:74364108

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4A
not specified
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Conflicting Classifications

CA10584294

rs_879254192

7 SubmittersRCV000236133 RCV001066504 RCV004526651 RCV005044495 RCV006436709

NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser)

SNV
Germline

Chr9:127467797

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246608

rs_148059394

7 SubmittersRCV000237057 RCV001086245 RCV001173643 RCV002356316

NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu)

SNV
Germline

Chr9:127492812

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5247037

rs_146106537

4 SubmittersRCV001294857 RCV001705307 RCV002392727

NM_000399.5(EGR2):c.644C>T (p.Thr215Met)

SNV
Germline

Chr10:62813994

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease type 1D
Inborn genetic diseases
EGR2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5517251

rs_139147487

10 SubmittersRCV000236817 RCV000858272 RCV001094002 RCV002365227 RCV003955388 RCV005238779

NM_000399.5(EGR2):c.192G>C (p.Met64Ile)

SNV
Germline

Chr10:62814446

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1D
not specified
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5517310

rs_146631014

11 SubmittersRCV000235956 RCV000527649 RCV001094067 RCV001658082 RCV002225532 RCV002411070

NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)

SNV
Germline

Chr11:62692683

Conflicting classifications of pathogenicity

Condition: not provided
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6053484

rs_10776

7 SubmittersRCV000236915 RCV000269156 RCV000366070 RCV001086940 RCV002347931

NM_001122955.4(BSCL2):c.487-14G>A

SNV
Germline

Chr11:62694725

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA6053544

rs_189771133

2 SubmittersRCV000235758 RCV002055013

NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)

SNV
Germline

Chr11:62702506

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, type 5A
Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Lipodystrophy

Criteria Provided
Conflicting Classifications

CA6053569

rs_149412531

7 SubmittersRCV000236421 RCV000280085 RCV000342082 RCV001080694 RCV002450739 RCV005361479

NM_001122955.4(BSCL2):c.420C>T (p.Ser140=)

SNV
Germline

Chr11:62702534

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA6053577

rs_780093151

3 SubmittersRCV000235755 RCV002446466 RCV002519836

NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)

SNV
Germline

Chr11:62705406

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
BSCL2-related disorder

Criteria Provided
Conflicting Classifications

CA6053624

rs_147314661

5 SubmittersRCV000235352 RCV000543721 RCV002418047 RCV002479947 RCV003930012

NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)

SNV
Germline

Chr11:68929204

Pathogenic

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6153517

rs_201060167

10 SubmittersRCV000236185 RCV000544728 RCV000790269 RCV001027460 RCV002429143 RCV002265708 RCV002272190

NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)

SNV
Germline

Chr11:68933358

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153597

rs_370414354

5 SubmittersRCV000236000 RCV000763763 RCV002379045

NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)

SNV
Germline

Chr11:68934542

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA10584389

rs_879253887

3 SubmittersRCV000235493 RCV000677264 RCV001244709

NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)

SNV
Germline

Chr11:68935403

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA10584390

rs_368775789

5 SubmittersRCV000236280 RCV001332102 RCV003330603 RCV003765468

NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His)

SNV
Germline

Chr11:68936324

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153793

rs_201640213

6 SubmittersRCV000235293 RCV000551552 RCV001112400 RCV001173562 RCV002411069

NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu)

SNV
Germline

Chr11:68936570

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153835

rs_77807333

6 SubmittersRCV000819702 RCV000727325 RCV002418044

NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)

SNV
Germline

Chr11:68936656

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153850

rs_143986510

10 SubmittersRCV000532649 RCV000726111 RCV001109737 RCV002429144

NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)

SNV
Germline

Chr11:68936840

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153889

rs_141594765

10 SubmittersRCV000348006 RCV000514865 RCV001082293 RCV001173331 RCV002450728

NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)

SNV
Germline

Chr11:68936849

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153897

rs_147038490

8 SubmittersRCV000235815 RCV000547188 RCV001110520 RCV002444933

NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu)

SNV
Germline

Chr11:68938244

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153983

rs_201970407

5 SubmittersRCV000236947 RCV000376875 RCV001089049 RCV002429148

NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)

SNV
Germline

Chr11:68939586

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6154036

rs_149824485

12 SubmittersRCV000236700 RCV000292250 RCV000556244 RCV001173347 RCV002436064 RCV005238784

NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)

SNV
Germline

Chr11:9816987

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881126

rs_139522696

10 SubmittersRCV000237027 RCV000467056 RCV000713000 RCV001094183 RCV002356322

NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)

SNV
Germline

Chr11:9829395

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881173

rs_139967004

7 SubmittersRCV000235333 RCV000303226 RCV001094187 RCV001820788 RCV002365232

NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)

SNV
Germline

Chr11:9839663

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B2
Tip-toe gait
Inborn genetic diseases
SBF2-related disorder

Criteria Provided
Conflicting Classifications

CA5881312

rs_141894081

12 SubmittersRCV000416078 RCV001085919 RCV001172800 RCV001114470 RCV001564019 RCV002321906 RCV003919998

NM_021625.5(TRPV4):c.2513C>T (p.Pro838Leu)

SNV
Germline

Chr12:109783724

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Distal myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6779870

rs_140602150

4 SubmittersRCV000237075 RCV001035654 RCV005625478 RCV005502775

NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)

SNV
Germline

Chr12:109794430

Conflicting classifications of pathogenicity

Condition: not provided
Brachyrachia (short spine dysplasia)
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA6780254

rs_373049874

6 SubmittersRCV000235458 RCV000287694 RCV000284090 RCV000344778 RCV000341387 RCV000405687 RCV000645552 RCV003320357

NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)

SNV
Germline

Chr12:109798627

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Brachyrachia (short spine dysplasia)
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780342

rs_764949536

7 SubmittersRCV000236449 RCV000461756 RCV001109755 RCV001109756 RCV001109757 RCV001109754 RCV001109753 RCV002321903

NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)

SNV
Germline

Chr12:109798810

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases
not specified
Neuronopathy, distal hereditary motor, autosomal dominant 8
TRPV4-related disorder

Criteria Provided
Conflicting Classifications

CA6780382

rs_377518118

7 SubmittersRCV000235920 RCV000541580 RCV002379042 RCV003479077 RCV004576931 RCV004737389

NM_021625.5(TRPV4):c.695G>A (p.Arg232His)

SNV
Germline

Chr12:109803008

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA6780472

rs_769107613

3 SubmittersRCV000236974 RCV002519834

NM_021625.5(TRPV4):c.479G>A (p.Arg160Gln)

SNV
Germline

Chr12:109808376

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA6780532

rs_139300843

3 SubmittersRCV000235717 RCV000537457

NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)

SNV
Germline

Chr12:109814760

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6780631

rs_763302555

9 SubmittersRCV000237063 RCV000458201 RCV001111110 RCV001111111 RCV001110362 RCV001110363 RCV001110364 RCV001173258 RCV002356317 RCV005406983

NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)

SNV
Germline

Chr12:32582346

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4H
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6506638

rs_201826412

9 SubmittersRCV000236369 RCV001079406 RCV001173484 RCV001114309 RCV002338766

NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly)

SNV
Germline

Chr14:101979951

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10584453

rs_879253979

2 SubmittersRCV000797392 RCV001705306

NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu)

SNV
Germline

Chr14:101986018

Pathogenic

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal dominant
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Criteria Provided
Multiple Submitters
No Conflicts

CA10584457

rs_879254085

5 SubmittersRCV000235287 RCV000789735 RCV001854863 RCV005252835

NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg)

SNV
Germline

Chr14:101997174

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10584460

rs_867503066

4 SubmittersRCV000235664 RCV000543522 RCV001291705 RCV002347924

NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile)

SNV
Germline

Chr14:102001649

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7352246

rs_761695197

5 SubmittersRCV000236258 RCV000649564 RCV002057258 RCV002338774 RCV003897578

NM_001376.5(DYNC1H1):c.5074A>G (p.Ile1692Val)

SNV
Germline

Chr14:102004786

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA7352353

rs_775895683

3 SubmittersRCV000235668 RCV003114408 RCV005860048

NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)

SNV
Germline

Chr14:102005225

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA10584464

rs_879253937

3 SubmittersRCV000235536 RCV000322194 RCV000385081

NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys)

SNV
Germline

Chr14:102008244

Pathogenic

Condition: not provided
DYNC1H1-related neurodevelopmental disorders
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Criteria Provided
Multiple Submitters
No Conflicts

CA10584465

rs_879253881

5 SubmittersRCV000236762 RCV001249748 RCV001854846 RCV003223399

NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys)

SNV
Germline

Chr14:102015162

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA10584466

rs_879254019

4 SubmittersRCV000236944 RCV002365226 RCV002519822 RCV003155135

NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)

SNV
Germline

Chr14:102015228

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Criteria Provided
Conflicting Classifications

CA7352745

rs_550161377

3 SubmittersRCV000235243 RCV000806855 RCV003147430 RCV003147429

NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)

SNV
Germline

Chr14:102016033

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Intellectual disability
not specified

Criteria Provided
Conflicting Classifications

CA7352809

rs_766837403

5 SubmittersRCV000236454 RCV001085082 RCV001111363 RCV001251972 RCV006452535

NM_001376.5(DYNC1H1):c.7570G>A (p.Val2524Met)

SNV
Germline

Chr14:102016445

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA7352842

rs_147836678

3 SubmittersRCV000236995 RCV001323088 RCV006268691

NM_001376.5(DYNC1H1):c.8442G>C (p.Glu2814Asp)

SNV
Germline

Chr14:102019991

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353022

rs_762494017

3 SubmittersRCV000236229 RCV001231858 RCV002444939

NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp)

SNV
Germline

Chr14:102033982

Pathogenic/Likely pathogenic

Condition: not provided
Lissencephaly
Spinal muscular atrophy with lower extremity predominance
Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10584472

rs_757725348

5 SubmittersRCV000235908 RCV001291072 RCV002051830 RCV003642883 RCV005868166

NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn)

SNV
Germline

Chr14:102034441

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353465

rs_768668529

3 SubmittersRCV000236114 RCV000552491 RCV002418048

NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn)

SNV
Germline

Chr14:102040638

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA7353771

rs_770525695

3 SubmittersRCV000235497 RCV001210703 RCV004594034

NM_001376.5(DYNC1H1):c.12071C>T (p.Pro4024Leu)

SNV
Germline

Chr14:102041703

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA10584476

rs_879254308

2 SubmittersRCV000236751 RCV003528158

NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr)

SNV
Germline

Chr14:102043950

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA10584477

rs_879254018

3 SubmittersRCV000236360 RCV000766649 RCV001235804

NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)

SNV
Germline

Chr14:102047882

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354139

rs_547205132

4 SubmittersRCV000235855 RCV000649539 RCV002379050

NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys)

SNV
Germline

Chr14:102048612

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354206

rs_142883042

4 SubmittersRCV000235280 RCV001084368 RCV002379043

NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln)

SNV
Germline

Chr14:102049452

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354236

rs_376608392

4 SubmittersRCV000235870 RCV001040227 RCV002379049

NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val)

SNV
Germline

Chr14:102050477

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10584483

rs_879254286

4 SubmittersRCV000236243 RCV000558294 RCV002274953 RCV004619231

NM_022489.4(INF2):c.1183G>A (p.Glu395Lys)

SNV
Germline

Chr14:104707450

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372522

rs_374769850

3 SubmittersRCV000235504 RCV001243475

NM_022489.4(INF2):c.2005G>A (p.Val669Met)

SNV
Germline

Chr14:104709336

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372774

rs_756038490

3 SubmittersRCV000235340 RCV001374312 RCV004984764

NM_022489.4(INF2):c.2879-20G>C

SNV
Germline

Chr14:104713425

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA10584487

rs_879254306

2 SubmittersRCV000235833 RCV002057263

NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys)

SNV
Germline

Chr16:11549645

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7904008

rs_748017885

7 SubmittersRCV000236601 RCV001173621 RCV001218448 RCV002327154

NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)

SNV
Germline

Chr16:70252890

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Developmental and epileptic encephalopathy, 29

Criteria Provided
Conflicting Classifications

CA8140276

rs_369774476

6 SubmittersRCV000235881 RCV000687989 RCV000995470

NM_001605.3(AARS1):c.2222C>T (p.Thr741Met)

SNV
Germline

Chr16:70255792

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA8140510

rs_148383122

3 SubmittersRCV000236072 RCV000548635 RCV000999714

NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)

SNV
Germline

Chr16:70255828

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
Developmental and epileptic encephalopathy, 29
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140522

rs_142850278

4 SubmittersRCV000236790 RCV000704888 RCV000765312 RCV002461032

NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)

SNV
Germline

Chr16:70262353

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Trichothiodystrophy 8, nonphotosensitive
Developmental and epileptic encephalopathy, 29

Criteria Provided
Conflicting Classifications

CA8140738

rs_144982168

5 SubmittersRCV000236958 RCV001203095 RCV002461030 RCV004730916

NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)

SNV
Germline

Chr16:70264969

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
not specified

Criteria Provided
Conflicting Classifications

CA8140806

rs_771059047

4 SubmittersRCV000235750 RCV001089010 RCV001118435 RCV006268692

NM_001605.3(AARS1):c.1108A>G (p.Met370Val)

SNV
Germline

Chr16:70267773

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8140917

rs_199976742

5 SubmittersRCV000237086 RCV000999703 RCV001087898 RCV002461036 RCV006456883

NM_001605.3(AARS1):c.823G>A (p.Gly275Ser)

SNV
Germline

Chr16:70269757

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141019

rs_747142680

3 SubmittersRCV000236819 RCV000653894 RCV002461035

NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)

SNV
Germline

Chr16:70271934

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141111

rs_765398055

4 SubmittersRCV000236496 RCV000477239 RCV001094248 RCV002461031

NM_001605.3(AARS1):c.385C>G (p.Pro129Ala)

SNV
Germline

Chr16:70276580

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141145

rs_370622071

6 SubmittersRCV000236492 RCV000653927 RCV000999718 RCV002461034

NM_001605.3(AARS1):c.95T>C (p.Ile32Thr)

SNV
Germline

Chr16:70282669

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8141227

rs_751721557

2 SubmittersRCV000235781 RCV001424157

NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)

SNV
Germline

Chr17:15230951

Pathogenic

Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA10584542

rs_879253954

3 SubmittersRCV000236879 RCV000790159 RCV001209293

NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)

SNV
Germline

Chr19:10772559

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9200758

rs_375151459

4 SubmittersRCV000236409 RCV001082575 RCV002321908

NM_001005361.3(DNM2):c.839C>T (p.Thr280Met)

SNV
Germline

Chr19:10783110

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9200897

rs_202155679

5 SubmittersRCV000727032 RCV001084696 RCV006362167

NM_001005361.3(DNM2):c.1106G>T (p.Arg369Leu)

SNV
Germline

Chr19:10793833

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA10584604

rs_121909089

2 SubmittersRCV000236677 RCV006462193

NM_001005361.3(DNM2):c.1423-9C>G

SNV
Germline

Chr19:10802279

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA10584606

rs_371006369

3 SubmittersRCV000235767 RCV001128094 RCV001128095

NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser)

SNV
Germline

Chr19:10812315

Pathogenic/Likely pathogenic

Condition: not provided
Sensorimotor neuropathy
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10584607

rs_121909093

5 SubmittersRCV000235229 RCV000415354 RCV000641104 RCV003258714

NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys)

SNV
Germline

Chr19:10819986

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Centronuclear myopathy

Reviewed By Expert Panel

CA10584608

rs_879254086

4 SubmittersRCV000236107 RCV002518442 RCV005430516

NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn)

SNV
Germline

Chr19:10829253

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
not specified

Criteria Provided
Conflicting Classifications

CA10584610

rs_879254300

4 SubmittersRCV000236748 RCV000688081 RCV006452536

NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)

SNV
Germline

Chr19:40394405

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA9443732

rs_142762689

9 SubmittersRCV000236760 RCV000559953 RCV000767048 RCV001094578 RCV001173096

NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)

SNV
Germline

Chr19:40394979

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4F
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443872

rs_148939995

12 SubmittersRCV000235608 RCV000658835 RCV001085498 RCV001172782 RCV001128999 RCV001358805 RCV002450720

NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)

SNV
Germline

Chr19:40395166

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4F
not specified
Charcot-Marie-Tooth disease
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443909

rs_139188673

11 SubmittersRCV000474498 RCV000766571 RCV001131681 RCV001283504 RCV001172762 RCV001814975 RCV002321902

NM_181882.3(PRX):c.3145G>A (p.Gly1049Ser)

SNV
Germline

Chr19:40395207

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9443914

rs_186086914

3 SubmittersRCV000235591 RCV001088432

NM_181882.3(PRX):c.1651G>A (p.Val551Met)

SNV
Germline

Chr19:40396701

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
PRX-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9444221

rs_61733448

9 SubmittersRCV000545891 RCV001094582 RCV001172787 RCV001705304 RCV002401919 RCV003947804 RCV004999164

NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)

SNV
Germline

Chr19:40396806

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4F
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
Dejerine-Sottas disease

Criteria Provided
Conflicting Classifications

CA9444242

rs_144305922

7 SubmittersRCV000236385 RCV000764202 RCV000802296 RCV001136189 RCV002401925 RCV003333056

NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)

SNV
Germline

Chr19:40397178

Pathogenic/Likely pathogenic

Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA9444311

rs_773009397

3 SubmittersRCV000235669 RCV000789534 RCV001057364

NM_181882.3(PRX):c.727G>A (p.Gly243Arg)

SNV
Germline

Chr19:40397625

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4F
Dejerine-Sottas disease

Criteria Provided
Conflicting Classifications

CA9444389

rs_774726424

6 SubmittersRCV000235532 RCV001241256 RCV002379040 RCV005396828

NM_002764.4(PRPS1):c.319A>G (p.Ile107Val)

SNV
Germline

ChrX:107640914

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Arts syndrome
Charcot-Marie-Tooth disease X-linked recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10584629

rs_879253919

3 SubmittersRCV000235705 RCV001319152 RCV005409639

NM_000166.6(GJB1):c.-17G>A

SNV
Germline

ChrX:71223335

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584632

rs_879254047

6 SubmittersRCV000235476 RCV000470682 RCV001249760

NM_000166.6(GJB1):c.83T>C (p.Ile28Thr)

SNV
Germline

ChrX:71223790

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA10584633

rs_768834663

4 SubmittersRCV000235732 RCV000789177 RCV001203741 RCV004783768

NM_000166.6(GJB1):c.112G>A (p.Val38Met)

SNV
Germline

ChrX:71223819

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10584634

rs_879254012

7 SubmittersRCV000235629 RCV000793260 RCV000789918 RCV004020923

NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)

SNV
Germline

ChrX:71223839

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA10584635

rs_879253935

3 SubmittersRCV000235491 RCV000789296 RCV001068519

NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)

SNV
Germline

ChrX:71223938

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584636

rs_879254096

4 SubmittersRCV000235279 RCV000789171 RCV001388434 RCV003447129

NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)

SNV
Germline

ChrX:71223946

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10584637

rs_879254097

5 SubmittersRCV000235814 RCV000466555 RCV000789226 RCV002450732

NM_000166.6(GJB1):c.282C>A (p.His94Gln)

SNV
Germline

ChrX:71223989

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA10584638

rs_756000896

3 SubmittersRCV000236380 RCV000789853 RCV001854850

NM_000166.6(GJB1):c.376C>T (p.His126Tyr)

SNV
Germline

ChrX:71224083

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA10584639

rs_879253995

3 SubmittersRCV000236069 RCV000698707 RCV000789056

NM_000166.6(GJB1):c.541G>A (p.Val181Met)

SNV
Germline

ChrX:71224248

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10584643

rs_879253909

8 SubmittersRCV000235289 RCV000804182 RCV000789192 RCV002272191 RCV005841536

NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)

SNV
Germline

ChrX:71224350

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584644

rs_879254099

6 SubmittersRCV000236009 RCV000688999 RCV000789850 RCV003388834

NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)

SNV
Germline

Chr22:30941550

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10586383

rs_886037934

4 SubmittersRCV000240855 RCV000857125

NM_014845.6(FIG4):c.1584-8T>A

SNV
Germline

Chr6:109766721

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Conflicting Classifications

CA3956144

rs_199522051

9 SubmittersRCV000254421 RCV000275273 RCV000470402 RCV000711651 RCV001173270 RCV001094996

NM_014845.6(FIG4):c.2097-10C>G

SNV
Germline

Chr6:109789584

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Malignant tumor of esophagus
Sarcoma

Criteria Provided
Conflicting Classifications

CA3956286

rs_142482745

12 SubmittersRCV000253875 RCV000711652 RCV001079241 RCV001154907 RCV001173268 RCV001154908 RCV005893937 RCV005893938

NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)

SNV
Germline

Chr11:68937025

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153935

rs_2228208

8 SubmittersRCV000248917 RCV000873173 RCV001112494 RCV001172575 RCV001705362 RCV002429187

NM_022489.4(INF2):c.879G>A (p.Ser293=)

SNV
Germline

Chr14:104706945

Conflicting classifications of pathogenicity

not specified
Focal segmental glomerulosclerosis 5
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Kidney disorder

Criteria Provided
Conflicting Classifications

CA7372456

rs_184709736

13 SubmittersRCV000251923 RCV000390139 RCV000530463 RCV001084192 RCV002446495 RCV002294200

NM_000214.3(JAG1):c.1195G>A (p.Val399Met)

SNV
Germline

Chr20:10650286

Conflicting classifications of pathogenicity

not specified
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764957

rs_181970528

4 SubmittersRCV000244469 RCV001237017 RCV002338795 RCV005025398

NM_170707.4(LMNA):c.111G>A (p.Glu37=)

SNV
Germline

Chr1:156115029

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10587413

rs_886038906

6 SubmittersRCV000247889 RCV000726524 RCV003532072 RCV003999033 RCV006462262

NM_007289.4(MME):c.71G>A (p.Trp24Ter)

SNV
Germline

Chr3:155084238

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T
Condition: not provided

Criteria Provided
Single Submitter

CA10588803

rs_886039755

2 SubmittersRCV000254899 RCV003556303

NM_001005373.4(LRSAM1):c.2081G>A (p.Cys694Tyr)

SNV
Germline

Chr9:127502808

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

No Assertion Criteria Provided

CA10602640

rs_886041051

1 SubmittersRCV000258766

NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)

SNV
Germline

Chr9:133352509

Pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Multiple Submitters
No Conflicts

CA10603164

rs_782623477

5 SubmittersRCV000321649 RCV000631405 RCV005049509

NM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter)

SNV
Germline

Chr12:32611274

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4H

Criteria Provided
Multiple Submitters
No Conflicts

CA10603250

rs_886041200

2 SubmittersRCV000277726 RCV003988839

NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)

SNV
Germline

Chr17:42538692

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosistype IIIB
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA10603774

rs_886042073

4 SubmittersRCV000341295 RCV001250255 RCV003765584 RCV006268703

NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)

SNV
Germline

Chr5:149028434

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
not specified
Inborn genetic diseases
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA3499208

rs_200967041

13 SubmittersRCV000558978 RCV000723677 RCV000789696 RCV001157494 RCV001157495 RCV001706410 RCV002379107 RCV003319193

NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)

SNV
Germline

Chr14:102049755

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7354288

rs_35546990

6 SubmittersRCV000724821 RCV001084352 RCV002379108 RCV003947828

NM_170707.4(LMNA):c.149G>T (p.Arg50Leu)

SNV
Germline

Chr1:156115067

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10603912

rs_60695352

3 SubmittersRCV000364250 RCV001044757

NM_170707.4(LMNA):c.726G>A (p.Ala242=)

SNV
Germline

Chr1:156134891

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054216

rs_763625309

8 SubmittersRCV000345591 RCV000780388 RCV001088674 RCV001525715 RCV002379110 RCV003995754

NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met)

SNV
Germline

Chr1:6476016

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA562003

rs_112530241

5 SubmittersRCV000303908 RCV000558074 RCV001101949 RCV001697701 RCV002356367

NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=)

SNV
Germline

Chr14:102042685

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353934

rs_749647281

3 SubmittersRCV000321794 RCV000725028 RCV001087932

NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)

SNV
Germline

Chr11:68937040

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6153941

rs_750024353

2 SubmittersRCV000398288 RCV001859559

NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)

SNV
Germline

Chr5:149031672

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499307

rs_201779392

5 SubmittersRCV000725079 RCV001088169 RCV001173893 RCV002347991

NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=)

SNV
Germline

Chr1:6471011

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561549

rs_776561735

3 SubmittersRCV000313867 RCV001078704 RCV002379115

NM_170707.4(LMNA):c.192C>T (p.Thr64=)

SNV
Germline

Chr1:156115110

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051973

rs_137969290

8 SubmittersRCV000348112 RCV000725140 RCV001087778 RCV001183039 RCV002411149 RCV003995762

NM_001376.5(DYNC1H1):c.4075-5G>A

SNV
Germline

Chr14:102000949

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352167

rs_750127672

3 SubmittersRCV000329342 RCV000649614 RCV002321949

NM_021625.5(TRPV4):c.1491+10C>T

SNV
Germline

Chr12:109794319

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal dominant 8
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
not specified
Spondylometaphyseal dysplasia, Kozlowski type
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2C
TRPV4-related disorder

Criteria Provided
Conflicting Classifications

CA6780225

rs_201815805

9 SubmittersRCV000273307 RCV000308460 RCV000330168 RCV000365568 RCV000382061 RCV000400610 RCV000725182 RCV001174119 RCV001085943 RCV004547674

NM_170707.4(LMNA):c.1051A>C (p.Arg351=)

SNV
Germline

Chr1:156136015

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA048878

rs_771623461

7 SubmittersRCV000587553 RCV001088944 RCV001183035 RCV002392800 RCV003995764

NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter)

SNV
Germline

Chr1:10336692

Conflicting classifications of pathogenicity

Condition: not provided
EEG abnormality
Exaggerated startle response
Global developmental delay
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10604534

rs_886042662

3 SubmittersRCV000395243 RCV002468573 RCV003743695

NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp)

SNV
Germline

Chr5:149027151

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3498966

rs_147490172

5 SubmittersRCV000399648 RCV001174037 RCV001859590

NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)

SNV
Germline

Chr15:44660558

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535871

rs_201842512

6 SubmittersRCV000296854 RCV000692595 RCV002321952 RCV002467713 RCV002467714

NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu)

SNV
Germline

Chr16:70255822

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140519

rs_150873930

5 SubmittersRCV000347277 RCV000705005 RCV000999713 RCV002461055

NM_002180.3(IGHMBP2):c.1060+8G>T

SNV
Germline

Chr11:68917891

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA6153487

rs_201147313

10 SubmittersRCV000341120 RCV000398567 RCV000725441 RCV001080208 RCV001174191 RCV005895655

NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)

SNV
Germline

Chr1:6469131

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10604822

rs_867638588

6 SubmittersRCV000264925 RCV000351675 RCV001082146 RCV002429221 RCV003387824

NM_003680.4(YARS1):c.510+10G>C

SNV
Germline

Chr1:32806472

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate C

Criteria Provided
Conflicting Classifications

CA745188

rs_201272488

5 SubmittersRCV000361009 RCV000725523 RCV001080452

NM_025137.4(SPG11):c.979C>G (p.Leu327Val)

SNV
Germline

Chr15:44652157

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
not specified

Criteria Provided
Conflicting Classifications

CA7535662

rs_146109825

7 SubmittersRCV000259263 RCV000811912 RCV002467716 RCV002379128 RCV002467715 RCV004586659

NM_001540.5(HSPB1):c.417G>A (p.Thr139=)

SNV
Germline

Chr7:76303854

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4306383

rs_754991269

3 SubmittersRCV000402853 RCV001480817 RCV002328773

NM_170707.4(LMNA):c.694G>A (p.Gly232Arg)

SNV
Germline

Chr1:156134859

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10605004

rs_267607609

3 SubmittersRCV000519005 RCV002521931

NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)

SNV
Germline

Chr12:106427339

Conflicting classifications of pathogenicity

Condition: not provided
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Amenorrhea
See cases
Inborn genetic diseases
not specified
POLR-related leukodystrophy
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6761899

rs_199504211

20 SubmittersRCV000725610 RCV000765038 RCV001262244 RCV001849363 RCV002252082 RCV003243041 RCV003226274 RCV004760473 RCV005003609 RCV005625506

NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)

SNV
Germline

Chr1:156115001

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA10605120

rs_886043109

4 SubmittersRCV000380269 RCV000809047 RCV004577329

NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)

SNV
Germline

Chr14:102015282

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
not specified
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7352756

rs_141525226

8 SubmittersRCV000725688 RCV001085654 RCV002374466 RCV000374519 RCV001114649

NM_170707.4(LMNA):c.498G>A (p.Arg166=)

SNV
Germline

Chr1:156130758

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10605219

rs_886043189

4 SubmittersRCV000395106 RCV002059182 RCV002338846

NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)

SNV
Germline

Chr11:68935403

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6153749

rs_368775789

5 SubmittersRCV000383801 RCV001443493 RCV002401992 RCV000512971

NM_002047.4(GARS1):c.786T>C (p.Asn262=)

SNV
Germline

Chr7:30609635

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10605270

rs_886043231

2 SubmittersRCV000325759 RCV001504447

NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)

SNV
Germline

Chr1:156135227

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Conflicting Classifications

CA10605303

rs_886043260

3 SubmittersRCV000390988 RCV000693559 RCV002250618

NM_170707.4(LMNA):c.1599C>T (p.Ser533=)

SNV
Germline

Chr1:156137223

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10605409

rs_886043346

5 SubmittersRCV000362667 RCV001525716 RCV002401994 RCV002519217 RCV003995777

NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)

SNV
Germline

Chr1:156137702

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Charcot-Marie-Tooth disease type 2
not specified
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA050891

rs_373671419

11 SubmittersRCV000334194 RCV000622473 RCV000541582 RCV000825772 RCV001183038 RCV001172624 RCV004992158 RCV005044537

NM_170707.4(LMNA):c.75C>T (p.Arg25=)

SNV
Germline

Chr1:156114993

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10605468

rs_80356804

2 SubmittersRCV000316060 RCV001452238

NM_001376.5(DYNC1H1):c.9264-8T>G

SNV
Germline

Chr14:102027929

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353204

rs_368432468

5 SubmittersRCV000383732 RCV000462081 RCV001812770 RCV004017587

NM_006158.5(NEFL):c.22C>A (p.Pro8Thr)

SNV
Germline

Chr8:24956494

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA10605648

rs_886043551

3 SubmittersRCV000319997 RCV000789666 RCV001067080

NM_030973.4(MED25):c.396C>T (p.Arg132=)

SNV
Germline

Chr19:49828539

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
MED25-related disorder

Criteria Provided
Conflicting Classifications

CA9584826

rs_142353864

5 SubmittersRCV000370288 RCV000653964 RCV001173465 RCV003967768

NM_024577.4(SH3TC2):c.3757A>G (p.Ile1253Val)

SNV
Germline

Chr5:149004821

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498635

rs_147931490

3 SubmittersRCV000365032 RCV000538258 RCV002365320

NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg)

SNV
Germline

Chr19:10819984

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10605906

rs_886043756

3 SubmittersRCV000302578 RCV001367794 RCV006362213

NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=)

SNV
Germline

Chr1:6468403

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10605910

rs_759272412

6 SubmittersRCV000370490 RCV000524827 RCV000726089 RCV002450824

NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)

SNV
Germline

Chr11:68917883

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10605930

rs_886043773

3 SubmittersRCV000596478 RCV000819925 RCV005238852

NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)

SNV
Germline

Chr17:42543750

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA8577085

rs_144238669

4 SubmittersRCV000314943 RCV002518010

NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr17:42538685

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA10605951

rs_886043792

6 SubmittersRCV000332868 RCV000984288 RCV001068161

NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser)

SNV
Germline

Chr19:10718391

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9200683

rs_757121012

4 SubmittersRCV000267469 RCV001320927 RCV004975398

NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)

SNV
Germline

Chr1:156138708

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Familial partial lipodystrophy, Dunnigan type
Primary dilated cardiomyopathy
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA051671

rs_752598065

7 SubmittersRCV000533234 RCV000658526 RCV003335301 RCV003995784 RCV004734939

NM_170707.4(LMNA):c.1311C>T (p.Ser437=)

SNV
Germline

Chr1:156136367

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049800

rs_763224059

7 SubmittersRCV000377625 RCV000726198 RCV001087891 RCV001183042 RCV002379144 RCV003995786

NM_170707.4(LMNA):c.591G>A (p.Leu197=)

SNV
Germline

Chr1:156134480

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10606277

rs_886044049

4 SubmittersRCV000323285 RCV002059252 RCV003532078 RCV003995787

NM_001005361.3(DNM2):c.235+10G>A

SNV
Germline

Chr19:10759821

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA9200735

rs_769906659

2 SubmittersRCV000348245 RCV001477641

NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly)

SNV
Germline

Chr14:102005150

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352405

rs_773630385

3 SubmittersRCV000374503 RCV002487268 RCV002518083

NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys)

SNV
Germline

Chr1:6468405

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Conflicting Classifications

CA561159

rs_538561788

3 SubmittersRCV000394398 RCV000645434

NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)

SNV
Germline

Chr17:42543521

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA8577043

rs_112751577

9 SubmittersRCV000609923 RCV000675732 RCV001082045

NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)

SNV
Germline

Chr17:42543444

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8577019

rs_147293270

9 SubmittersRCV000284729 RCV000765355 RCV001124069 RCV001252583 RCV005372278

NM_170707.4(LMNA):c.1314G>A (p.Gly438=)

SNV
Germline

Chr1:156136370

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA049826

rs_774817302

8 SubmittersRCV000726528 RCV001177599 RCV002379154 RCV005238859 RCV001083806 RCV001172637

NM_170707.4(LMNA):c.732G>A (p.Ala244=)

SNV
Germline

Chr1:156134897

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA054233

rs_756952925

6 SubmittersRCV000278718 RCV000769725 RCV001416242 RCV003995794 RCV004992167

NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)

SNV
Germline

Chr1:6473293

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases
PLEKHG5-related disorder

Criteria Provided
Conflicting Classifications

CA561765

rs_556687525

7 SubmittersRCV000317714 RCV000726597 RCV001098159 RCV001421109 RCV002392817 RCV003897660

NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)

SNV
Germline

Chr1:10282440

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
KIF1B-related disorder

Criteria Provided
Conflicting Classifications

CA580938

rs_763679404

5 SubmittersRCV000352133 RCV000405571 RCV004584662 RCV004021333 RCV004742372

NM_001365951.3(KIF1B):c.107-8T>A

SNV
Germline

Chr1:10256239

Conflicting classifications of pathogenicity

Neuroblastoma
Condition: not provided
Charcot-Marie-Tooth disease type 2
KIF1B-related disorder

Criteria Provided
Conflicting Classifications

CA580614

rs_749389756

5 SubmittersRCV000287514 RCV001699285 RCV002518172 RCV003977816

NM_001365951.3(KIF1B):c.364-15A>G

SNV
Germline

Chr1:10261890

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580684

rs_771929965

3 SubmittersRCV000322651 RCV002522047 RCV006452578

NM_001365951.3(KIF1B):c.364-10A>G

SNV
Germline

Chr1:10261895

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10607191

rs_886044966

2 SubmittersRCV000337868 RCV006462364

NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)

SNV
Germline

Chr1:10256286

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
not specified
Meniere disease
Neuroblastoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA580622

rs_143654307

8 SubmittersRCV000383160 RCV001173603 RCV003480578 RCV004021327 RCV004567840 RCV000347279 RCV005055103

NM_001365951.3(KIF1B):c.721-15A>G

SNV
Germline

Chr1:10271487

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA580774

rs_755866386

2 SubmittersRCV000309335 RCV002519361

NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)

SNV
Germline

Chr1:10296990

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA581132

rs_142881321

4 SubmittersRCV000306544 RCV000366147 RCV001174213 RCV004021336

NM_001365951.3(KIF1B):c.3129+11G>T

SNV
Germline

Chr1:10336753

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA581706

rs_201224213

2 SubmittersRCV000328901 RCV002061150

NM_001365951.3(KIF1B):c.4683C>T (p.Ser1561=)

SNV
Germline

Chr1:10365579

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA582148

rs_751084365

4 SubmittersRCV000322778 RCV003581649 RCV003897663 RCV004021349

NM_001365951.3(KIF1B):c.3423-15A>T

SNV
Germline

Chr1:10339754

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA581779

rs_200470260

5 SubmittersRCV000305426 RCV001173611 RCV004713482 RCV005638486 RCV005891453

NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)

SNV
Germline

Chr1:10334580

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuroblastoma
Charcot-Marie-Tooth disease
Condition: not provided
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA581660

rs_150904940

6 SubmittersRCV000267896 RCV000359940 RCV001172608 RCV003422205 RCV003910052 RCV004021338

NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)

SNV
Germline

Chr1:10368534

Conflicting classifications of pathogenicity

Neuroblastoma
not specified
KIF1B-related disorder
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA582184

rs_145969842

5 SubmittersRCV000373752 RCV004021350 RCV003417930 RCV000469029 RCV003485573

NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=)

SNV
Germline

Chr1:10339802

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581786

rs_574168097

3 SubmittersRCV000365817 RCV003743696 RCV004021340

NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=)

SNV
Germline

Chr1:10343253

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA10607306

rs_868389032

3 SubmittersRCV000262490 RCV001429983 RCV004021342

NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe)

SNV
Germline

Chr1:10361028

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581994

rs_760253167

3 SubmittersRCV000290187 RCV001859741 RCV004021346

NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=)

SNV
Germline

Chr1:10374995

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
KIF1B-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA582296

rs_146436697

5 SubmittersRCV000306164 RCV000467676 RCV003967815 RCV004021351 RCV006435031

NM_170707.4(LMNA):c.1488G>A (p.Thr496=)

SNV
Germline

Chr1:156137028

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Dilated cardiomyopathy 1A
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease type 2
not specified
Congenital muscular dystrophy due to LMNA mutation
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050383

rs_375516745

8 SubmittersRCV000272434 RCV000283389 RCV000295329 RCV000337310 RCV000329882 RCV000341138 RCV000364565 RCV000424743 RCV000399235 RCV000769730 RCV000733840 RCV001093869 RCV001097147 RCV002392823 RCV003995796

NM_014874.4(MFN2):c.474+4A>G

SNV
Germline

Chr1:11996322

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
MFN2-related disorder
Charcot-Marie-Tooth disease
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA598826

rs_141974160

5 SubmittersRCV000259891 RCV000317463 RCV004537630 RCV001174300 RCV005891479

NM_000530.8(MPZ):c.*52G>A

SNV
Germline

Chr1:161305824

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1B
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease dominant intermediate D
Neuropathy, congenital hypomyelinating, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1210041

rs_774701563

2 SubmittersRCV000265390 RCV000270677 RCV000301779 RCV001093826 RCV001357532

NM_000530.8(MPZ):c.-49C>A

SNV
Germline

Chr1:161309954

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate D
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease type 1B
Neuropathy, congenital hypomyelinating, 2
not specified

Criteria Provided
Conflicting Classifications

CA1210268

rs_750777955

2 SubmittersRCV000347617 RCV000396893 RCV000396895 RCV001093888 RCV004526659

NM_014874.4(MFN2):c.1269G>A (p.Thr423=)

SNV
Germline

Chr1:12004100

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA599061

rs_145994616

5 SubmittersRCV000351787 RCV000653986 RCV002374493 RCV001172703 RCV006445666

NM_014874.4(MFN2):c.2145C>T (p.Ala715=)

SNV
Germline

Chr1:12009667

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy with optic atrophy
Inborn genetic diseases
MFN2-related disorder

Criteria Provided
Conflicting Classifications

CA599342

rs_571011689

4 SubmittersRCV000279575 RCV000387975 RCV002429242 RCV004543156

NM_170707.4(LMNA):c.514-11C>T

SNV
Germline

Chr1:156134392

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
Dilated cardiomyopathy 1A
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10608308

rs_886045365

5 SubmittersRCV000259634 RCV000277232 RCV000312526 RCV000319234 RCV000338954 RCV000372986 RCV000367228 RCV000373949 RCV000828218 RCV001096563 RCV002061154 RCV004639205 RCV005402898

NM_170707.4(LMNA):c.294G>A (p.Glu98=)

SNV
Germline

Chr1:156115212

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10608333

rs_886045363

5 SubmittersRCV000268830 RCV000268358 RCV000303772 RCV000304893 RCV000338865 RCV000364211 RCV000358456 RCV000404276 RCV001101770 RCV001718593 RCV003231435 RCV005589808

NM_000530.8(MPZ):c.*743C>T

SNV
Germline

Chr1:161305133

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1B
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease dominant intermediate D
Neuropathy, congenital hypomyelinating, 2

Criteria Provided
Conflicting Classifications

CA10608531

rs_140992541

1 SubmittersRCV000347133 RCV000339052 RCV000396851 RCV001093769

NM_000530.8(MPZ):c.*195G>T

SNV
Germline

Chr1:161305681

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease dominant intermediate D
Roussy-Lévy syndrome
Neuropathy, congenital hypomyelinating, 2
Condition: not provided
MPZ-related disorder

Criteria Provided
Conflicting Classifications

CA10608533

rs_150182811

3 SubmittersRCV000300540 RCV000354081 RCV000395380 RCV001093774 RCV003221890 RCV004543158

NM_000530.8(MPZ):c.*1048A>T

SNV
Germline

Chr1:161304828

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1B
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease dominant intermediate D
Neuropathy, congenital hypomyelinating, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10608566

rs_71639057

2 SubmittersRCV000265703 RCV000327786 RCV000358066 RCV001093818 RCV002274972

NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)

SNV
Germline

Chr1:161307415

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease dominant intermediate D
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease type 1B
Neuropathy, congenital hypomyelinating, 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA1210236

rs_530923760

3 SubmittersRCV000283414 RCV000377930 RCV000343046 RCV001093832 RCV001093831 RCV001173705

NM_003680.4(YARS1):c.391C>T (p.Leu131=)

SNV
Germline

Chr1:32806601

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA745207

rs_759430430

3 SubmittersRCV000392105 RCV002461063

NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=)

SNV
Germline

Chr1:6473052

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
not specified
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
Inborn genetic diseases
PLEKHG5-related disorder

Criteria Provided
Conflicting Classifications

CA561710

rs_111624565

9 SubmittersRCV000329792 RCV000429918 RCV000549059 RCV001812784 RCV002374507 RCV003930242

NM_020631.6(PLEKHG5):c.439+12C>G

SNV
Germline

Chr1:6474439

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
not specified
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Conflicting Classifications

CA561860

rs_778853521

3 SubmittersRCV000367150 RCV000429565 RCV002059494

NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys)

SNV
Germline

Chr1:6469594

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561326

rs_144245744

6 SubmittersRCV000345713 RCV000645417 RCV001088203 RCV002411190

NM_020631.6(PLEKHG5):c.795+13A>G

SNV
Germline

Chr1:6473238

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
not specified

Criteria Provided
Conflicting Classifications

CA561752

rs_766753209

3 SubmittersRCV000381072 RCV003765740 RCV005238870

NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)

SNV
Germline

Chr1:6474072

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
Inborn genetic diseases
PLEKHG5-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA561820

rs_143484278

6 SubmittersRCV000297306 RCV000544761 RCV001711892 RCV002348038 RCV003957553 RCV006445696

NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)

SNV
Germline

Chr1:32782500

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA745039

rs_138454151

6 SubmittersRCV000276182 RCV002520486 RCV003992265 RCV004725152

NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp)

SNV
Germline

Chr1:32786394

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate C
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Criteria Provided
Conflicting Classifications

CA745067

rs_753211165

5 SubmittersRCV000993560 RCV000792475 RCV004725153

NM_003680.4(YARS1):c.685-11A>G

SNV
Germline

Chr1:32787086

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C

Criteria Provided
Conflicting Classifications

CA745123

rs_751943571

2 SubmittersRCV000381240

NM_003680.4(YARS1):c.684+3A>G

SNV
Germline

Chr1:32791159

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C

Criteria Provided
Conflicting Classifications

CA745138

rs_375332060

2 SubmittersRCV000291523

NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=)

SNV
Germline

Chr1:6467884

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10611369

rs_886046497

3 SubmittersRCV000272719 RCV002059492 RCV002436135

NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=)

SNV
Germline

Chr1:6468202

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA561118

rs_367560509

6 SubmittersRCV000379985 RCV000546929 RCV001697711 RCV002429248 RCV005055850

NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln)

SNV
Germline

Chr1:6468293

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561139

rs_761000380

5 SubmittersRCV000348442 RCV000538204 RCV001753757 RCV002429249

NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr)

SNV
Germline

Chr1:6468351

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561148

rs_200162521

5 SubmittersRCV000390391 RCV000522669 RCV001083084 RCV002429250

NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=)

SNV
Germline

Chr1:6468379

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
not specified
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561152

rs_184541137

5 SubmittersRCV000313474 RCV000433148 RCV000539676 RCV002450846

NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=)

SNV
Germline

Chr1:6473088

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561719

rs_370572859

3 SubmittersRCV000386812 RCV000528955 RCV002374508

NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=)

SNV
Germline

Chr1:6477539

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA562039

rs_144859183

6 SubmittersRCV000320392 RCV000658487 RCV001083200 RCV002450847 RCV005434778

NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=)

SNV
Germline

Chr1:6468145

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561106

rs_755539639

4 SubmittersRCV000341721 RCV000557213 RCV001642915 RCV002450845

NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=)

SNV
Germline

Chr1:6468409

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561161

rs_369876443

3 SubmittersRCV000307661 RCV000551255 RCV002446544

NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)

SNV
Germline

Chr2:27312496

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Conflicting Classifications

CA1575585

rs_112170670

8 SubmittersRCV000338177 RCV000730532 RCV003227479 RCV003320359

NM_004637.6(RAB7A):c.-18A>G

SNV
Germline

Chr3:128726350

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B
not specified
RAB7A-related disorder

Criteria Provided
Conflicting Classifications

CA10614792

rs_886057941

3 SubmittersRCV000326107 RCV000607131 RCV003983025

NM_004637.6(RAB7A):c.*183A>G

SNV
Germline

Chr3:128813605

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10617239

rs_774054837

2 SubmittersRCV000367383 RCV001584050

NM_024577.4(SH3TC2):c.*21658A>G

SNV
Germline

Chr5:148983053

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10619384

rs_145964634

1 SubmittersRCV000295687 RCV000348244

NM_024577.4(SH3TC2):c.*13465C>A

SNV
Germline

Chr5:148991246

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10619458

rs_186009343

1 SubmittersRCV000309984 RCV000357774

NM_024577.4(SH3TC2):c.*10863C>T

SNV
Germline

Chr5:148993848

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10619481

rs_181346624

1 SubmittersRCV000287675 RCV000351979

NM_024577.4(SH3TC2):c.*7006T>C

SNV
Germline

Chr5:148997705

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10619514

rs_187720692

1 SubmittersRCV000308209 RCV000362853

NM_024577.4(SH3TC2):c.*5368C>T

SNV
Germline

Chr5:148999343

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10619552

rs_189202481

1 SubmittersRCV000312808 RCV000367506

NM_024577.4(SH3TC2):c.*2500C>A

SNV
Germline

Chr5:149002211

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10619575

rs_559833500

1 SubmittersRCV000264033 RCV000356510

NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)

SNV
Germline

Chr5:149004783

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
not specified
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3498626

rs_144873879

13 SubmittersRCV000333938 RCV000419130 RCV000555131 RCV000710218 RCV001095105 RCV001172841 RCV002356484 RCV004530421

NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=)

SNV
Germline

Chr5:149027638

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10619602

rs_886060196

2 SubmittersRCV000269573 RCV000327176 RCV002418211

NM_024577.4(SH3TC2):c.255C>T (p.Asp85=)

SNV
Germline

Chr5:149047886

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10619608

rs_886060199

2 SubmittersRCV000343436 RCV000377152 RCV002429314

NM_024577.4(SH3TC2):c.*14827T>A

SNV
Germline

Chr5:148989884

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10620597

rs_569378409

1 SubmittersRCV000366906 RCV000391636

NM_024577.4(SH3TC2):c.*6392C>A

SNV
Germline

Chr5:148998319

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10620679

rs_114817736

1 SubmittersRCV000300137 RCV000359615

NM_024577.4(SH3TC2):c.*5689A>C

SNV
Germline

Chr5:148999022

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10620685

rs_537285537

1 SubmittersRCV000279647 RCV000316081

NM_024577.4(SH3TC2):c.*3058A>G

SNV
Germline

Chr5:149001653

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10620711

rs_563916447

1 SubmittersRCV000284969 RCV000376990

NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)

SNV
Germline

Chr5:149031584

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499292

rs_569974719

3 SubmittersRCV000290373 RCV000385782 RCV001094984 RCV005230271

NM_014845.6(FIG4):c.243A>G (p.Lys81=)

SNV
Germline

Chr6:109716522

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955715

rs_200257799

3 SubmittersRCV000291963 RCV000346970 RCV001449133 RCV004742397

NM_014845.6(FIG4):c.2547-11A>G

SNV
Germline

Chr6:109825077

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3956445

rs_745613994

2 SubmittersRCV000309055 RCV000363623 RCV002061302

NM_014845.6(FIG4):c.2547-5T>G

SNV
Germline

Chr6:109825083

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Inborn genetic diseases
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3956446

rs_200267243

10 SubmittersRCV000324185 RCV000475395 RCV000858660 RCV001095001 RCV001173264 RCV002429318 RCV005899028 RCV005899027

NM_024577.4(SH3TC2):c.*19406A>G

SNV
Germline

Chr5:148985305

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10623115

rs_72835351

1 SubmittersRCV000276857 RCV000313276

NM_024577.4(SH3TC2):c.*16257T>C

SNV
Germline

Chr5:148988454

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10623134

rs_572081330

1 SubmittersRCV000303283 RCV000360312

NM_024577.4(SH3TC2):c.*10864G>A

SNV
Germline

Chr5:148993847

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623238

rs_189701174

3 SubmittersRCV000327456 RCV000381991 RCV001785586

NM_024577.4(SH3TC2):c.*20773G>T

SNV
Germline

Chr5:148983938

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10623268

rs_113020040

1 SubmittersRCV000293099 RCV000389542

NM_024577.4(SH3TC2):c.*882G>A

SNV
Germline

Chr5:149003829

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA3498589

rs_775429372

2 SubmittersRCV000273536 RCV000368125 RCV000857132

NM_024577.4(SH3TC2):c.*15235A>G

SNV
Germline

Chr5:148989476

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10623333

rs_145210501

1 SubmittersRCV000278016 RCV000370222

NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=)

SNV
Germline

Chr5:149006956

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10623340

rs_886060195

2 SubmittersRCV000292382 RCV000386690 RCV002450926

NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=)

SNV
Germline

Chr5:149010294

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498785

rs_755006924

2 SubmittersRCV000276203 RCV000370684 RCV002323557

NM_024577.4(SH3TC2):c.*13598A>G

SNV
Germline

Chr5:148991113

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10623349

rs_141011337

1 SubmittersRCV000306299 RCV000400861

NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)

SNV
Germline

Chr5:149027790

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Hereditary motor and sensory neuropathy
Charcot-Marie-Tooth disease type 4C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499088

rs_537049075

6 SubmittersRCV000268641 RCV000360932 RCV001030761 RCV001095110 RCV001706582

NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)

SNV
Germline

Chr5:149027902

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499112

rs_370025626

3 SubmittersRCV000351509 RCV000392955 RCV001482691 RCV002411247

NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)

SNV
Germline

Chr5:149027918

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA3499117

rs_186864272

3 SubmittersRCV000293064 RCV000349658 RCV001094981 RCV001173887

NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)

SNV
Germline

Chr5:149041598

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499466

rs_147013935

8 SubmittersRCV000654284 RCV001000996 RCV001095117 RCV001173200 RCV001584070 RCV000353171 RCV002348106

NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)

SNV
Germline

Chr5:149042833

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3499514

rs_776623792

3 SubmittersRCV000330936 RCV000383987 RCV002374597 RCV002520333

NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)

SNV
Germline

Chr5:149044633

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
not specified
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499547

rs_574669908

6 SubmittersRCV000273192 RCV000325802 RCV000421299 RCV001094986 RCV001815318 RCV002436215

NM_024577.4(SH3TC2):c.280-5C>T

SNV
Germline

Chr5:149044643

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499549

rs_201937366

6 SubmittersRCV000286201 RCV000559399 RCV000605956 RCV001173217 RCV001094987 RCV002436216

NM_024577.4(SH3TC2):c.*10052C>T

SNV
Germline

Chr5:148994659

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623373

rs_113802539

2 SubmittersRCV000346026 RCV000395736 RCV002221529

NM_024577.4(SH3TC2):c.*8111A>C

SNV
Germline

Chr5:148996600

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623409

rs_17109205

2 SubmittersRCV000265443 RCV000327587 RCV001672653

NM_024577.4(SH3TC2):c.*6682G>C

SNV
Germline

Chr5:148998029

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10623437

rs_557452648

1 SubmittersRCV000321902 RCV000376515

NM_024577.4(SH3TC2):c.*2248A>G

SNV
Germline

Chr5:149002463

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10623508

rs_187399485

1 SubmittersRCV000278732 RCV000389471

NM_024577.4(SH3TC2):c.*1982C>A

SNV
Germline

Chr5:149002729

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10623511

rs_535127091

1 SubmittersRCV000304767 RCV000395410

NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)

SNV
Germline

Chr5:149028011

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3499137

rs_201256776

8 SubmittersRCV000310013 RCV000525499 RCV000490113 RCV001095013 RCV001173167 RCV002402071 RCV006263899

NM_002047.4(GARS1):c.384G>A (p.Leu128=)

SNV
Germline

Chr7:30600006

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D
Distal spinal muscular atrophy
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA10623835

rs_886062272

3 SubmittersRCV000289034 RCV000327743 RCV000381200 RCV001440748 RCV004022048

NM_006096.4(NDRG1):c.-19+14C>G

SNV
Germline

Chr8:133297120

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4D
not specified

Criteria Provided
Conflicting Classifications

CA10624886

rs_886062716

2 SubmittersRCV000343267 RCV000613453

NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)

SNV
Germline

Chr6:109716541

Pathogenic

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3955720

rs_753207473

3 SubmittersRCV000987758 RCV001729560 RCV001861266

NM_014845.6(FIG4):c.350C>T (p.Ala117Val)

SNV
Germline

Chr6:109727169

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3955749

rs_551339249

3 SubmittersRCV000288549 RCV000343538 RCV001095019 RCV001545776

NM_014845.6(FIG4):c.1272-10C>G

SNV
Germline

Chr6:109762081

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3956032

rs_201293291

4 SubmittersRCV000260196 RCV000654276 RCV001173514 RCV001095131 RCV004742398

NM_014845.6(FIG4):c.1863C>A (p.Thr621=)

SNV
Germline

Chr6:109777034

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3956195

rs_201744761

8 SubmittersRCV000381459 RCV000545092 RCV000604481 RCV001173281 RCV001094997 RCV001706587 RCV004619276

NM_014845.6(FIG4):c.2568G>T (p.Ser856=)

SNV
Germline

Chr6:109825109

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA3956457

rs_140055056

4 SubmittersRCV000280997 RCV000317635 RCV001095030 RCV003902376 RCV005899029

NM_014845.6(FIG4):c.2223G>T (p.Thr741=)

SNV
Germline

Chr6:109791418

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3956327

rs_181012139

3 SubmittersRCV000312621 RCV000406778 RCV002429317 RCV002524462

NM_014845.6(FIG4):c.2547-4A>G

SNV
Germline

Chr6:109825084

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA10625700

rs_886060985

2 SubmittersRCV000265862 RCV000360172 RCV001404072

NM_002047.4(GARS1):c.765G>A (p.Ala255=)

SNV
Germline

Chr7:30609614

Conflicting classifications of pathogenicity

Distal spinal muscular atrophy
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease type 2D
not specified

Criteria Provided
Conflicting Classifications

CA4205820

rs_201447520

4 SubmittersRCV000312217 RCV000369316 RCV000654009 RCV001310959 RCV001095275 RCV004022049

NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)

SNV
Germline

Chr7:30615964

Conflicting classifications of pathogenicity

Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
GARS1-related disorder
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2D
not specified

Criteria Provided
Conflicting Classifications

CA4205894

rs_192443850

9 SubmittersRCV000267692 RCV000558968 RCV000302958 RCV001171985 RCV003922595 RCV001027470 RCV001095236 RCV004022050

NM_002047.4(GARS1):c.1809+14T>C

SNV
Germline

Chr7:30628683

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D
Distal spinal muscular atrophy
Neuronopathy, distal hereditary motor, type 5A
not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4206080

rs_367739730

5 SubmittersRCV000273382 RCV000331028 RCV000356395 RCV000417980 RCV001172977 RCV002229910

NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His)

SNV
Germline

Chr9:127462303

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA5246557

rs_368689811

2 SubmittersRCV001057366

NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)

SNV
Germline

Chr9:127473866

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246649

rs_563259179

6 SubmittersRCV000865000 RCV001174251 RCV001683445 RCV002365434

NM_001540.3(HSPB1):c.-122G>T

SNV
Germline

Chr7:76302591

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626441

rs_553127513

3 SubmittersRCV000269982 RCV000369349 RCV003430939

NM_001540.5(HSPB1):c.216C>T (p.Ala72=)

SNV
Germline

Chr7:76302928

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10626442

rs_11547168

3 SubmittersRCV000278632 RCV000338392 RCV002429324

NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln)

SNV
Germline

Chr9:127485775

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5246889

rs_150344223

5 SubmittersRCV000649923 RCV001562394 RCV004701452

NM_006158.5(NEFL):c.141G>A (p.Val47=)

SNV
Germline

Chr8:24956375

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA10627544

rs_886062835

2 SubmittersRCV000322687 RCV005090600

NM_018972.4(GDAP1):c.485-6T>C

SNV
Germline

Chr8:74361878

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Conflicting Classifications

CA4785120

rs_763802909

2 SubmittersRCV000270724 RCV000365360 RCV001441200

NM_002047.4(GARS1):c.882-4A>G

SNV
Germline

Chr7:30612092

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
Distal spinal muscular atrophy
not specified
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205852

rs_778219649

5 SubmittersRCV000280343 RCV000337635 RCV000516665 RCV001095169 RCV000534444

NM_002047.4(GARS1):c.2211C>T (p.Ile737=)

SNV
Germline

Chr7:30633851

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA10628958

rs_886062274

3 SubmittersRCV000269679 RCV000327357 RCV000365639 RCV002229984 RCV004022051

NM_002047.4(GARS1):c.764C>T (p.Ala255Val)

SNV
Germline

Chr7:30609613

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4205819

rs_765478968

6 SubmittersRCV000356639 RCV000393447 RCV000544393 RCV000444686 RCV001095230 RCV001174144 RCV004808697

NM_002047.4(GARS1):c.882-15T>G

SNV
Germline

Chr7:30612081

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D
Distal spinal muscular atrophy
Condition: not provided
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205851

rs_199741850

4 SubmittersRCV000324356 RCV000372565 RCV000443897 RCV000285735 RCV002229909

NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)

SNV
Germline

Chr7:30622327

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2D
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4205989

rs_538571144

5 SubmittersRCV000289117 RCV000351179 RCV000389357 RCV001236217 RCV002512088 RCV004701447

NM_001540.5(HSPB1):c.-4C>T

SNV
Germline

Chr7:76302709

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA4306224

rs_372833436

4 SubmittersRCV000286983 RCV000376443 RCV000767311 RCV001174179 RCV005418098

NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)

SNV
Germline

Chr7:76303820

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4306372

rs_558882005

5 SubmittersRCV000678497 RCV000705379 RCV001172549 RCV002365422

NM_030962.4(SBF2):c.777G>A (p.Pro259=)

SNV
Germline

Chr11:10000998

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
not specified
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4B2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA5882009

rs_142261202

8 SubmittersRCV000304687 RCV001173802 RCV001820880 RCV001565111 RCV002411193 RCV006450127 RCV005891929

NM_030962.4(SBF2):c.129G>A (p.Gln43=)

SNV
Germline

Chr11:10193914

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5882217

rs_761285505

5 SubmittersRCV000535477 RCV001094000 RCV001718611 RCV002379171

NM_006096.4(NDRG1):c.894G>A (p.Pro298=)

SNV
Germline

Chr8:133242072

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4886486

rs_368061370

4 SubmittersRCV000392608 RCV001095262 RCV002446615

NM_006096.4(NDRG1):c.663C>T (p.Pro221=)

SNV
Germline

Chr8:133250475

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4886649

rs_377225752

6 SubmittersRCV000423340 RCV000654230 RCV001095156 RCV002365427 RCV005425944

NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)

SNV
Germline

Chr11:62692378

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
Congenital generalized lipodystrophy type 2
not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases
BSCL2-related disorder

Criteria Provided
Conflicting Classifications

CA6053434

rs_370926100

9 SubmittersRCV000292822 RCV000350116 RCV000422175 RCV000560796 RCV001700048 RCV002365350 RCV003950022

NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)

SNV
Germline

Chr11:62692394

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
not specified
Congenital generalized lipodystrophy type 2
Condition: not provided
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
Inborn genetic diseases
BSCL2-related disorder

Criteria Provided
Conflicting Classifications

CA6053437

rs_185341934

13 SubmittersRCV000301053 RCV000518650 RCV000401336 RCV000431177 RCV001083807 RCV001174402 RCV002365351 RCV003940156

NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)

SNV
Germline

Chr11:62694583

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6053523

rs_140208002

5 SubmittersRCV000326138 RCV000387742 RCV000827121 RCV001496139 RCV002328805

NM_002180.3(IGHMBP2):c.547+9T>G

SNV
Germline

Chr11:68908640

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA10631430

rs_886048603

2 SubmittersRCV000359413 RCV001472566

NM_018972.4(GDAP1):c.*1639A>G

SNV
Germline

Chr8:74366006

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

Criteria Provided
Conflicting Classifications

CA4785331

rs_145245478

1 SubmittersRCV000277735 RCV000314066

NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)

SNV
Germline

Chr11:95835360

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6239834

rs_371925152

7 SubmittersRCV000528284 RCV000859232 RCV001094170 RCV001172721 RCV002411197 RCV004999278

NM_030962.4(SBF2):c.5232-7C>A

SNV
Germline

Chr11:9784445

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5880750

rs_752774091

2 SubmittersRCV000377949 RCV006462403

NM_030962.4(SBF2):c.5004C>T (p.Thr1668=)

SNV
Germline

Chr11:9787667

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5880845

rs_150598413

3 SubmittersRCV000381258 RCV002056251 RCV001795927

NM_030962.4(SBF2):c.2598G>A (p.Pro866=)

SNV
Germline

Chr11:9852688

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B2
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5881522

rs_376372877

5 SubmittersRCV000397133 RCV001173974 RCV001094122 RCV002429257 RCV005407035

NM_030962.4(SBF2):c.2537-5C>T

SNV
Germline

Chr11:9852754

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA10631826

rs_886048783

2 SubmittersRCV000283503 RCV005090445

NM_030962.4(SBF2):c.946C>T (p.Leu316=)

SNV
Germline

Chr11:9998295

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881964

rs_374841593

5 SubmittersRCV000558813 RCV001173992 RCV001093994 RCV001538680 RCV002446552

NM_030962.4(SBF2):c.942A>G (p.Pro314=)

SNV
Germline

Chr11:9998299

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881966

rs_753903194

2 SubmittersRCV000339750 RCV002446553

NM_000399.5(EGR2):c.924C>T (p.Ala308=)

SNV
Germline

Chr10:62813714

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10631914

rs_886047093

3 SubmittersRCV000265305 RCV002520608 RCV002374513

NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)

SNV
Germline

Chr12:109796646

Conflicting classifications of pathogenicity

Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6780303

rs_377257364

5 SubmittersRCV000281928 RCV000297089 RCV000336787 RCV000351981 RCV000396047 RCV000396046 RCV000596388 RCV005434796

NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)

SNV
Germline

Chr9:127459034

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA5246485

rs_570248730

4 SubmittersRCV000649924

NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu)

SNV
Germline

Chr9:127485801

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5246895

rs_149540339

9 SubmittersRCV000476861 RCV001174262 RCV001706606 RCV002365435 RCV005238953

NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)

SNV
Germline

Chr9:127496037

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5247123

rs_139344911

3 SubmittersRCV000527280 RCV002402086

NM_001370298.3(FGD4):c.167-61790C>T

SNV
Germline

Chr12:32502347

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4H

Criteria Provided
Conflicting Classifications

CA10632555

rs_531501340

2 SubmittersRCV001718627 RCV000304485

NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)

SNV
Germline

Chr12:32576322

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4H
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6506547

rs_199744649

4 SubmittersRCV000396677 RCV000439988 RCV001092390

NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)

SNV
Germline

Chr12:32602176

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA6506751

rs_773609461

3 SubmittersRCV000279341 RCV001174100 RCV001473634

NM_001005373.4(LRSAM1):c.-199A>G

SNV
Germline

Chr9:127451659

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
not specified

Criteria Provided
Conflicting Classifications

CA10632582

rs_760403428

2 SubmittersRCV000321933 RCV000422517

NM_030962.4(SBF2):c.514-12C>T

SNV
Germline

Chr11:10028569

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5882085

rs_770141264

3 SubmittersRCV000365357 RCV000842091 RCV002056163

NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)

SNV
Germline

Chr14:101986436

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351785

rs_149902566

9 SubmittersRCV000294357 RCV000649643 RCV001174019 RCV001697661 RCV002317833

NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)

SNV
Germline

Chr14:102010393

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7352595

rs_776544497

5 SubmittersRCV000359215 RCV000842382 RCV001088223 RCV003972331

NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)

SNV
Germline

Chr14:102027780

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353179

rs_201817995

3 SubmittersRCV000338147 RCV000534383 RCV001539911

NM_001376.5(DYNC1H1):c.10754+11G>A

SNV
Germline

Chr14:102034463

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA10634614

rs_886050372

2 SubmittersRCV000324697 RCV000372387

NM_001376.5(DYNC1H1):c.11460+4G>A

SNV
Germline

Chr14:102039258

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7353590

rs_201518717

6 SubmittersRCV000360510 RCV000545289 RCV001718641 RCV002338891 RCV003488526

NM_001376.5(DYNC1H1):c.13515+8C>T

SNV
Germline

Chr14:102049590

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7354253

rs_200901713

4 SubmittersRCV000311118 RCV000842719 RCV001086971 RCV003897720

NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)

SNV
Germline

Chr14:102050093

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7354341

rs_138571942

2 SubmittersRCV000270296 RCV000328951

NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)

SNV
Germline

Chr14:102050105

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
not specified

Criteria Provided
Conflicting Classifications

CA10634626

rs_886050377

3 SubmittersRCV000293918 RCV000325381 RCV000500247

NM_001376.5(DYNC1H1):c.*194C>T

SNV
Germline

Chr14:102050757

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634628

rs_566606862

2 SubmittersRCV000307423 RCV000365771 RCV003409486

NM_022489.4(INF2):c.986-14A>G

SNV
Germline

Chr14:104707239

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372488

rs_774186716

2 SubmittersRCV000400037 RCV002056393

NM_022489.4(INF2):c.2053A>G (p.Ile685Val)

SNV
Germline

Chr14:104709620

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372814

rs_199526439

5 SubmittersRCV000301022 RCV000527454 RCV001508744 RCV002418164

NM_001122955.4(BSCL2):c.1234+14T>G

SNV
Germline

Chr11:62690598

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA6053283

rs_778380128

2 SubmittersRCV000259295 RCV000298141 RCV002056213

NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)

SNV
Germline

Chr11:68917838

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153473

rs_149045005

6 SubmittersRCV000338066 RCV000531307 RCV001173563 RCV001509408 RCV002338881

NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=)

SNV
Germline

Chr11:68929247

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153528

rs_140296831

5 SubmittersRCV000361659 RCV000642649 RCV000615491 RCV001173581 RCV002436147

NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)

SNV
Germline

Chr11:68933353

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153592

rs_140654955

11 SubmittersRCV000365010 RCV000533786 RCV001174189 RCV001310974 RCV002379179

NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)

SNV
Germline

Chr11:95838136

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6239950

rs_775961979

4 SubmittersRCV000605637 RCV000654229 RCV001094174 RCV002402019

NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)

SNV
Germline

Chr11:9795879

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5880963

rs_141108330

8 SubmittersRCV000528673 RCV000713001 RCV001094116 RCV001172803 RCV002328806 RCV004999280

NM_030962.4(SBF2):c.2397A>G (p.Thr799=)

SNV
Germline

Chr11:9853679

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881567

rs_759550730

3 SubmittersRCV000397134 RCV001395708 RCV002450855

NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)

SNV
Germline

Chr11:9856624

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B2
Tip-toe gait
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5881611

rs_145199888

9 SubmittersRCV000547373 RCV000658587 RCV001002506 RCV001352894 RCV002429258 RCV005238877

NM_030962.4(SBF2):c.2100+7G>A

SNV
Germline

Chr11:9858219

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5881643

rs_370918433

2 SubmittersRCV000314295 RCV002056252

NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)

SNV
Germline

Chr11:9968422

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B2
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5881810

rs_139217120

8 SubmittersRCV000654076 RCV001172806 RCV001094221 RCV002392844 RCV004999281

NM_000399.5(EGR2):c.918C>T (p.Ala306=)

SNV
Germline

Chr10:62813720

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10636011

rs_886047094

3 SubmittersRCV000327671 RCV002059556 RCV002446550

NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)

SNV
Germline

Chr15:44584085

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534385

rs_375403626

5 SubmittersRCV000685697 RCV002467736 RCV002348056 RCV002467737 RCV005865295

NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)

SNV
Germline

Chr12:109814592

Conflicting classifications of pathogenicity

Spondylometaphyseal dysplasia, Kozlowski type
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Connective tissue disorder
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780592

rs_200199102

7 SubmittersRCV000264430 RCV000309318 RCV000326640 RCV000366323 RCV000360409 RCV000792477 RCV001172892 RCV002278390 RCV002418158 RCV004999282 RCV006441645

NM_030962.4(SBF2):c.705T>C (p.Ser235=)

SNV
Germline

Chr11:10002604

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5882040

rs_143209062

5 SubmittersRCV000466165 RCV000428606 RCV001093996 RCV001173996 RCV002365348

NM_001605.3(AARS1):c.1596C>A (p.Thr532=)

SNV
Germline

Chr16:70262421

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140750

rs_142181559

2 SubmittersRCV000274720 RCV002461082

NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)

SNV
Germline

Chr16:70265632

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140863

rs_147433234

4 SubmittersRCV000653852 RCV000999706 RCV001094399 RCV002461086

NM_000304.4(PMP22):c.-34-5C>T

SNV
Germline

Chr17:15260766

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Hereditary liability to pressure palsies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8403462

rs_375105159

2 SubmittersRCV000289055 RCV000394960 RCV001705481

NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)

SNV
Germline

Chr11:68906085

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153191

rs_199586231

6 SubmittersRCV000295254 RCV000839297 RCV001081103 RCV001173561 RCV002392841

NM_002180.3(IGHMBP2):c.714T>C (p.Val238=)

SNV
Germline

Chr11:68914825

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA6153374

rs_755582766

2 SubmittersRCV000270257 RCV000907808

NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn)

SNV
Germline

Chr11:68915012

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153433

rs_139635469

3 SubmittersRCV000334725 RCV000554904 RCV002374520

NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=)

SNV
Germline

Chr11:68929316

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153540

rs_745534850

3 SubmittersRCV000308054 RCV001397488 RCV002338882

NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=)

SNV
Germline

Chr11:68936520

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA10639270

rs_886048606

3 SubmittersRCV000282819 RCV002418155 RCV002520754

NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=)

SNV
Germline

Chr11:68936835

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6153887

rs_147954772

9 SubmittersRCV000309657 RCV000529178 RCV001171658 RCV001174186 RCV002446558 RCV006456988

NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=)

SNV
Germline

Chr11:68939605

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6154042

rs_759627672

4 SubmittersRCV000349487 RCV001444386 RCV002436149 RCV004808675

NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)

SNV
Germline

Chr11:62692416

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6053444

rs_151018278

5 SubmittersRCV000335926 RCV000399378 RCV000866662 RCV001089069 RCV002365352

NM_000263.4(NAGLU):c.348C>T (p.Ala116=)

SNV
Germline

Chr17:42536620

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8576704

rs_559674042

3 SubmittersRCV000325498 RCV000915198 RCV006441846

NM_000263.4(NAGLU):c.1119G>T (p.Val373=)

SNV
Germline

Chr17:42543125

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
not specified

Criteria Provided
Conflicting Classifications

CA8576962

rs_371656965

6 SubmittersRCV000403536 RCV000675731 RCV001085002 RCV006268735

NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)

SNV
Germline

Chr17:42543278

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
not specified

Criteria Provided
Conflicting Classifications

CA8576988

rs_200715586

4 SubmittersRCV000297983 RCV000910730 RCV006452601

NM_016156.6(MTMR2):c.655-8A>G

SNV
Germline

Chr11:95850757

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA6240272

rs_768562214

2 SubmittersRCV000279662 RCV001468758

NM_030962.4(SBF2):c.1971A>G (p.Val657=)

SNV
Germline

Chr11:9858355

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881668

rs_368639697

3 SubmittersRCV000273371 RCV001094193 RCV002418156

NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)

SNV
Germline

Chr14:101964852

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351456

rs_772070566

3 SubmittersRCV000331295 RCV000540387 RCV002402021

NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)

SNV
Germline

Chr14:102011967

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639823

rs_886050369

3 SubmittersRCV000324226 RCV000360303 RCV005641590

NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)

SNV
Germline

Chr14:102015921

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
not specified
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352794

rs_754446530

6 SubmittersRCV000347814 RCV000603854 RCV000864147 RCV001173177 RCV002379187 RCV003401315

NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)

SNV
Germline

Chr14:102034137

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353429

rs_763119040

4 SubmittersRCV000365219 RCV000392856 RCV000828011

NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)

SNV
Germline

Chr14:102034450

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353467

rs_181445947

2 SubmittersRCV000272923 RCV000359441

NM_022489.4(INF2):c.-10G>A

SNV
Germline

Chr14:104689739

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
not specified
Charcot-Marie-Tooth disease dominant intermediate E
Lymphoma

Criteria Provided
Conflicting Classifications

CA10639828

rs_115602636

5 SubmittersRCV000319953 RCV000432759 RCV001197342 RCV005893249

NM_002180.3(IGHMBP2):c.696G>T (p.Val232=)

SNV
Germline

Chr11:68911588

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA6153358

rs_748899869

3 SubmittersRCV000362514 RCV002365353 RCV003765799

NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=)

SNV
Germline

Chr11:68914837

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA10639942

rs_76690064

3 SubmittersRCV000327712 RCV002379177 RCV003765800

NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=)

SNV
Germline

Chr11:68917786

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA6153464

rs_771900045

3 SubmittersRCV000280733 RCV002374521 RCV003765801

NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)

SNV
Germline

Chr11:68933798

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153644

rs_61731907

7 SubmittersRCV000330441 RCV000479567 RCV001086737 RCV001173336 RCV002392842

NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val)

SNV
Germline

Chr11:68936704

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153862

rs_754473710

4 SubmittersRCV000287365 RCV002056236 RCV003133219 RCV002429255

NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=)

SNV
Germline

Chr11:68936841

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153890

rs_187924099

3 SubmittersRCV000392458 RCV002056237 RCV002446559

NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=)

SNV
Germline

Chr11:68937012

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6153931

rs_2228207

6 SubmittersRCV000297508 RCV000443898 RCV000536713 RCV001172588 RCV002429256 RCV006441629

NM_002180.3(IGHMBP2):c.2612-15G>A

SNV
Germline

Chr11:68938167

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
not specified
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA6153966

rs_372230504

4 SubmittersRCV000354662 RCV000422959 RCV001172582 RCV002520755

NM_002180.3(IGHMBP2):c.*6C>T

SNV
Germline

Chr11:68939737

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6154080

rs_117995705

4 SubmittersRCV000356883 RCV001172570 RCV001705455 RCV006263851

NM_021625.5(TRPV4):c.963C>A (p.Gly321=)

SNV
Germline

Chr12:109798803

Conflicting classifications of pathogenicity

Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780378

rs_148534854

4 SubmittersRCV000292008 RCV000295579 RCV000335363 RCV000350404 RCV000389848 RCV000402464 RCV002374524 RCV003391080

NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser)

SNV
Germline

Chr11:95858554

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Conflicting Classifications

CA6240302

rs_142155860

2 SubmittersRCV000527863 RCV001094090

NM_030962.4(SBF2):c.3257-5C>G

SNV
Germline

Chr11:9839701

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA10640551

rs_886048780

2 SubmittersRCV000325282 RCV006555817

NM_030962.4(SBF2):c.1509A>G (p.Glu503=)

SNV
Germline

Chr11:9968432

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Inborn genetic diseases
SBF2-related disorder

Criteria Provided
Conflicting Classifications

CA5881811

rs_143773975

9 SubmittersRCV000415759 RCV000419409 RCV000548897 RCV001094222 RCV001173805 RCV002392845 RCV003957588

NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr)

SNV
Germline

Chr17:77402520

Conflicting classifications of pathogenicity

Amyotrophic neuralgia
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8793236

rs_199861986

4 SubmittersRCV000406675 RCV000857025 RCV000857024 RCV003153559 RCV005480356

NM_021625.5(TRPV4):c.1825-15C>G

SNV
Germline

Chr12:109792444

Conflicting classifications of pathogenicity

Brachyrachia (short spine dysplasia)
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Scapuloperoneal spinal muscular atrophy
not specified
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780084

rs_200602134

5 SubmittersRCV000259297 RCV000283684 RCV000316890 RCV000340970 RCV000375912 RCV000388794 RCV000434806 RCV001174132 RCV001812795

NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)

SNV
Germline

Chr12:109803053

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780484

rs_548909101

3 SubmittersRCV000304424 RCV000348635 RCV000344222 RCV000394932 RCV000404003 RCV001052550 RCV005762001

NM_021625.5(TRPV4):c.171T>C (p.Pro57=)

SNV
Germline

Chr12:109814626

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10640901

rs_886048941

2 SubmittersRCV000263321 RCV000294966 RCV000315912 RCV000321831 RCV000372893 RCV000374276 RCV002411200

NM_001370298.3(FGD4):c.1543+13T>C

SNV
Germline

Chr12:32608108

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA6506804

rs_762177862

2 SubmittersRCV000378611 RCV002056289

NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)

SNV
Germline

Chr15:44659165

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535791

rs_573482671

3 SubmittersRCV000348489 RCV002467754 RCV002467755

NM_001005361.3(DNM2):c.162-9C>A

SNV
Germline

Chr19:10759729

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA9200715

rs_200736669

2 SubmittersRCV000324821 RCV000379209

NM_001005361.3(DNM2):c.890G>A (p.Arg297His)

SNV
Germline

Chr19:10786604

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9200926

rs_763894364

3 SubmittersRCV000406403 RCV000641109 RCV003144214

NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)

SNV
Germline

Chr19:10798534

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201134

rs_201575500

6 SubmittersRCV000331170 RCV000459689 RCV000489408 RCV000766564 RCV002379210

NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)

SNV
Germline

Chr19:10830253

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201618

rs_200968756

4 SubmittersRCV000324534 RCV000550926 RCV001731600 RCV002446589

NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val)

SNV
Germline

Chr19:10830995

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA9201661

rs_776073354

2 SubmittersRCV000314763 RCV000398197

NM_181882.3(PRX):c.3849A>G (p.Pro1283=)

SNV
Germline

Chr19:40394503

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443766

rs_757247849

3 SubmittersRCV000325086 RCV001433368 RCV002356446

NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)

SNV
Germline

Chr19:40394803

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4F
Condition: not provided
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9443834

rs_367876251

6 SubmittersRCV000543504 RCV001002435 RCV001094599 RCV001815312 RCV002450890 RCV003969940

NM_181882.3(PRX):c.237C>T (p.Asp79=)

SNV
Germline

Chr19:40398764

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444527

rs_376174896

5 SubmittersRCV000426746 RCV000654199 RCV001859947 RCV002450892 RCV006263877

NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)

SNV
Germline

Chr19:49836226

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA9585443

rs_199761611

4 SubmittersRCV000532947 RCV000996970 RCV001172666 RCV001822857

NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)

SNV
Germline

Chr20:10644907

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764562

rs_140330283

5 SubmittersRCV000357300 RCV000730538 RCV000645019 RCV000618450 RCV002487494

NM_000214.3(JAG1):c.756-14C>T

SNV
Germline

Chr20:10652612

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9765048

rs_757351921

3 SubmittersRCV000400703 RCV002057726 RCV005027436

NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)

SNV
Germline

Chr14:101987586

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351859

rs_774004189

4 SubmittersRCV000321103 RCV000529524 RCV003409484 RCV005562340

NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)

SNV
Germline

Chr14:102004929

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA10643806

rs_886050368

2 SubmittersRCV000335371 RCV000392147

NM_001376.5(DYNC1H1):c.8178-12A>T

SNV
Germline

Chr14:102018439

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7352967

rs_538986139

2 SubmittersRCV000285777 RCV000377958

NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)

SNV
Germline

Chr14:102044294

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7354020

rs_199792795

5 SubmittersRCV000329153 RCV000525171 RCV001590935 RCV002314053 RCV003940209

NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)

SNV
Germline

Chr14:102047962

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7354157

rs_536121075

5 SubmittersRCV000313195 RCV000393594 RCV000840036 RCV002379188 RCV006268724

NM_022489.4(INF2):c.966C>T (p.Ala322=)

SNV
Germline

Chr14:104707032

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372471

rs_774024906

3 SubmittersRCV000346634 RCV001413853 RCV002379189

NM_022489.4(INF2):c.1197C>T (p.His399=)

SNV
Germline

Chr14:104707464

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372526

rs_746493706

4 SubmittersRCV000356532 RCV000828380 RCV001513701 RCV002338892

NM_022489.4(INF2):c.2987C>T (p.Thr996Ile)

SNV
Germline

Chr14:104713553

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373144

rs_377414980

2 SubmittersRCV000269885 RCV000691072

NM_022489.4(INF2):c.3190T>C (p.Leu1064=)

SNV
Germline

Chr14:104714352

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA10643853

rs_886050383

3 SubmittersRCV000336570 RCV002321985 RCV005222888

NM_001605.3(AARS1):c.2580G>A (p.Leu860=)

SNV
Germline

Chr16:70253741

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases
AARS1-related disorder
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
not specified
Sarcoma

Criteria Provided
Conflicting Classifications

CA8140361

rs_145581652

10 SubmittersRCV000526102 RCV000585471 RCV000999716 RCV001094392 RCV002461074 RCV003969907 RCV005894527 RCV005894529 RCV006441815 RCV005894528

NM_001605.3(AARS1):c.2421C>A (p.Ile807=)

SNV
Germline

Chr16:70254018

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8140416

rs_768412428

3 SubmittersRCV000372058 RCV002461075 RCV003743698

NM_001605.3(AARS1):c.333+3A>C

SNV
Germline

Chr16:70276963

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases
Thymoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8141171

rs_747431164

5 SubmittersRCV000540050 RCV001094352 RCV002461090 RCV005894530 RCV006441816

NM_000304.4(PMP22):c.*3C>T

SNV
Germline

Chr17:15230914

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Hereditary liability to pressure palsies
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA8403290

rs_373690370

2 SubmittersRCV000285547 RCV000372929 RCV005638108

NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)

SNV
Germline

Chr14:101979340

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7351517

rs_527943422

2 SubmittersRCV000342824 RCV000392223

NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)

SNV
Germline

Chr14:101986086

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7351741

rs_755333803

3 SubmittersRCV000379272 RCV000703334 RCV001354735

NM_001376.5(DYNC1H1):c.7014+11T>A

SNV
Germline

Chr14:102012481

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352719

rs_748466861

2 SubmittersRCV000315924 RCV000375293

NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)

SNV
Germline

Chr14:102040645

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353773

rs_201174299

3 SubmittersRCV000288807 RCV000444425 RCV000864198

NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)

SNV
Germline

Chr14:102044348

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7354027

rs_529010293

3 SubmittersRCV000376780 RCV000500432 RCV000871176

NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe)

SNV
Germline

Chr14:104714725

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
not specified
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373307

rs_201715539

7 SubmittersRCV000370054 RCV000508357 RCV000649975 RCV001697662 RCV002450862

NM_000263.4(NAGLU):c.1503G>A (p.Val501=)

SNV
Germline

Chr17:42543509

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8577039

rs_537078152

4 SubmittersRCV000398123 RCV000915612 RCV003884470

NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)

SNV
Germline

Chr17:42543866

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8577108

rs_151013014

7 SubmittersRCV000308705 RCV000652884 RCV001699453 RCV001699316

NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser)

SNV
Germline

Chr15:34252253

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
Charcot-Marie-Tooth disease, axonal, IIa 2II
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Conflicting Classifications

CA7464350

rs_199945338

7 SubmittersRCV000346835 RCV001508751 RCV005396954

NM_025137.4(SPG11):c.2317-13C>G

SNV
Germline

Chr15:44622360

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA10647003

rs_372670941

5 SubmittersRCV000310734 RCV002286730 RCV005010276

NM_001136472.2(LITAF):c.159G>A (p.Gly53=)

SNV
Germline

Chr16:11556572

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10647739

rs_886051653

2 SubmittersRCV000399147 RCV002402030

NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)

SNV
Germline

Chr16:11556687

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7904196

rs_138041990

10 SubmittersRCV000549466 RCV001173623 RCV001531224 RCV002328830 RCV005434820

NM_001605.3(AARS1):c.480-8T>G

SNV
Germline

Chr16:70271980

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8141117

rs_751472610

3 SubmittersRCV000354251 RCV001090445 RCV003743699

NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)

SNV
Germline

Chr19:10829156

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201542

rs_142963320

7 SubmittersRCV000356221 RCV000537547 RCV000764169 RCV001507414 RCV002429288

NM_181882.3(PRX):c.966G>T (p.Val322=)

SNV
Germline

Chr19:40397386

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444347

rs_139544245

4 SubmittersRCV000372000 RCV001445203 RCV002379212 RCV003418038

NM_181882.3(PRX):c.960G>A (p.Ser320=)

SNV
Germline

Chr19:40397392

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
not specified
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
PRX-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444348

rs_775367319

6 SubmittersRCV000263431 RCV000601170 RCV002057513 RCV002374560 RCV003897754 RCV005641595

NM_181882.3(PRX):c.-114T>G

SNV
Germline

Chr19:40408172

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10648730

rs_367716653

3 SubmittersRCV000261903 RCV001613063

NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)

SNV
Germline

Chr16:70252896

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2N
Condition: not provided
AARS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140278

rs_746822330

7 SubmittersRCV000551294 RCV000999717 RCV001094339 RCV002248617 RCV003409502 RCV002461072

NM_001605.3(AARS1):c.2109G>C (p.Val703=)

SNV
Germline

Chr16:70258101

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140561

rs_777499923

3 SubmittersRCV000341561 RCV002229957 RCV002461077

NM_001605.3(AARS1):c.1587G>A (p.Leu529=)

SNV
Germline

Chr16:70262430

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10648862

rs_886052255

3 SubmittersRCV000313430 RCV002461083 RCV003581650

NM_001605.3(AARS1):c.1493-7T>C

SNV
Germline

Chr16:70262531

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
not specified

Criteria Provided
Conflicting Classifications

CA8140776

rs_376087556

3 SubmittersRCV000653995 RCV001094345 RCV004782355

NM_001605.3(AARS1):c.962+15C>T

SNV
Germline

Chr16:70269603

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8140982

rs_779150762

2 SubmittersRCV000287382 RCV002522887

NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)

SNV
Germline

Chr16:70269676

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141006

rs_576221121

7 SubmittersRCV000344744 RCV000436624 RCV001094475 RCV002461087

NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)

SNV
Germline

Chr17:42543668

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8577069

rs_368521316

5 SubmittersRCV000305124 RCV000907143 RCV003922370 RCV006452602

NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)

SNV
Germline

Chr17:42544163

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8577151

rs_114687267

5 SubmittersRCV000269629 RCV000957709 RCV004751464 RCV005434828

NM_181882.3(PRX):c.2292C>G (p.Pro764=)

SNV
Germline

Chr19:40396060

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444083

rs_142637195

3 SubmittersRCV000279489 RCV002057512 RCV002450891

NM_181882.3(PRX):c.683G>A (p.Arg228His)

SNV
Germline

Chr19:40397669

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Conflicting Classifications

CA9444397

rs_562108874

4 SubmittersRCV000379210 RCV001498314 RCV002365391 RCV005398448

NM_181882.3(PRX):c.597C>T (p.Ala199=)

SNV
Germline

Chr19:40397755

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444420

rs_144157275

4 SubmittersRCV000288813 RCV001173089 RCV001426880 RCV002356448

NM_001005361.3(DNM2):c.633C>T (p.Asp211=)

SNV
Germline

Chr19:10777161

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
not specified
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9200844

rs_200191870

7 SubmittersRCV000364097 RCV000419730 RCV000533318 RCV001085909 RCV002365389

NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)

SNV
Germline

Chr19:10825194

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201480

rs_768285660

4 SubmittersRCV000310775 RCV000394076 RCV000612842 RCV002418188

NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)

SNV
Germline

Chr19:40396784

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
not specified

Criteria Provided
Conflicting Classifications

CA9444240

rs_550446238

4 SubmittersRCV000275615 RCV002521231 RCV002523067 RCV005434835

NM_181882.3(PRX):c.1500A>G (p.Ser500=)

SNV
Germline

Chr19:40396852

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444249

rs_777104457

7 SubmittersRCV000532474 RCV000442783 RCV001094603 RCV001172776 RCV002392883 RCV006263876

NM_181882.3(PRX):c.379C>T (p.Leu127=)

SNV
Germline

Chr19:40398622

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA10652470

rs_886054441

3 SubmittersRCV000314519 RCV000857067 RCV001361032

NM_014874.4(MFN2):c.392A>G (p.Asn131Ser)

SNV
Germline

Chr1:11996236

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA598814

rs_776404901

4 SubmittersRCV000408641 RCV000789387 RCV001378252

NM_006158.5(NEFL):c.487G>T (p.Glu163Ter)

SNV
Germline

Chr8:24956029

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

CA10654937

rs_876661155

1 SubmittersRCV000408890

NM_001365088.1(SLC12A6):c.3227+1G>A

SNV
Germline

Chr15:34236014

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
Charcot-Marie-Tooth disease, axonal, IIa 2II
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16041713

rs_1057516969

4 SubmittersRCV000412065 RCV001222890 RCV005010292

NM_001365088.1(SLC12A6):c.2437-2A>G

SNV
Germline

Chr15:34239162

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
Charcot-Marie-Tooth disease, axonal, IIa 2II
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16041720

rs_1057516337

5 SubmittersRCV000410684 RCV003114523 RCV005010290

NM_001365088.1(SLC12A6):c.1118+1G>A

SNV
Germline

Chr15:34254347

Pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7464403

rs_762730861

7 SubmittersRCV000412092 RCV000789681 RCV001090728

NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)

SNV
Germline

Chr17:42537433

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
8 conditions
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8576764

rs_753520553

11 SubmittersRCV000409594 RCV000626636 RCV000705481 RCV002275001

NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)

SNV
Germline

Chr17:42541191

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA8576915

rs_376090795

2 SubmittersRCV000411961 RCV003766125

NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)

SNV
Germline

Chr1:12004083

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Neuropathy, hereditary motor and sensory, type 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA16042289

rs_1057517987

7 SubmittersRCV000413487 RCV000789392 RCV000995579 RCV001219307 RCV006554520

NM_000530.8(MPZ):c.68-1G>C

SNV
Germline

Chr1:161307425

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA16042314

rs_1057518021

2 SubmittersRCV000412954 RCV003741178

NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)

SNV
Germline

Chr2:240775862

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Spastic paraplegia
Hereditary spastic paraplegia 30
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA16042465

rs_749718096

7 SubmittersRCV000414618 RCV000543471 RCV000679891 RCV001391607 RCV002221151

NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter)

SNV
Germline

Chr6:109791407

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3956324

rs_774799167

2 SubmittersRCV000412921 RCV001382832

NM_006158.5(NEFL):c.294T>G (p.Asn98Lys)

SNV
Germline

Chr8:24956222

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA16042636

rs_1057517776

2 SubmittersRCV000413716 RCV001071579

NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)

SNV
Germline

Chr9:92047261

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Hereditary sensory and autonomic neuropathy type 1
Neuropathy, hereditary sensory and autonomic, type IA, severe
Amyotrophic lateral sclerosis 27, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

CA16042656

rs_267607087

4 SubmittersRCV000414705 RCV000790228 RCV000795948 RCV001249813 RCV003152600

NM_003172.4(SURF1):c.751+5G>A

SNV
Germline

Chr9:133352441

Conflicting classifications of pathogenicity

Condition: not provided
Muscle weakness
Abnormal pyramidal sign
Dysarthria
Cerebellar ataxia
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
not specified

Criteria Provided
Conflicting Classifications

CA16042683

rs_781934508

6 SubmittersRCV000413105 RCV000626843 RCV002283477 RCV002523941 RCV005044629 RCV005238967

NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)

SNV
Germline

Chr7:30622402

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205997

rs_753947676

4 SubmittersRCV000414190 RCV000863606 RCV001439803

NM_000188.3(HK1):c.1370C>T (p.Thr457Met)

SNV
Germline

Chr10:69382591

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 79
Hemolytic anemia due to hexokinase deficiency
Charcot-Marie-Tooth disease type 4G
Neurodevelopmental disorder with visual defects and brain anomalies
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16042708

rs_1057517928

11 SubmittersRCV000413860 RCV000763213 RCV000850129 RCV001266327

NM_002180.3(IGHMBP2):c.547+1G>A

SNV
Germline

Chr11:68908632

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16042766

rs_1057518588

5 SubmittersRCV000412903 RCV000642629 RCV000754569

NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)

SNV
Germline

Chr14:101986552

Pathogenic

Condition: not provided
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16042831

rs_1057518083

10 SubmittersRCV000413532 RCV000625972 RCV000809340 RCV004796168

NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)

SNV
Germline

Chr14:102008245

Likely pathogenic

Condition: not provided
Intellectual disability, autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA16042839

rs_1057518287

5 SubmittersRCV000414412 RCV000762920 RCV001267572 RCV001861429

NM_022489.4(INF2):c.1189G>A (p.Val397Met)

SNV
Germline

Chr14:104707456

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372524

rs_771775245

4 SubmittersRCV000414390 RCV001226432 RCV002338975

NM_001605.3(AARS1):c.1515G>A (p.Thr505=)

SNV
Germline

Chr16:70262502

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA16043021

rs_1057518288

3 SubmittersRCV000412994 RCV002461136 RCV003581653

NM_170707.4(LMNA):c.130G>T (p.Val44Phe)

SNV
Germline

Chr1:156115048

Conflicting classifications of pathogenicity

Congenital muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA16043361

rs_1057518971

2 SubmittersRCV000415420 RCV001861451

NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)

SNV
Germline

Chr11:68906163

Conflicting classifications of pathogenicity

Lower limb muscle weakness
Difficulty walking
Inability to walk
Hammertoe
Progressive muscle weakness
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA16043462

rs_1057518943

5 SubmittersRCV000415346 RCV000702154 RCV000754728

NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)

SNV
Germline

Chr11:68917781

Pathogenic/Likely pathogenic

Hammertoe
Lower limb muscle weakness
Difficulty walking
Progressive muscle weakness
Inability to walk
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6153462

rs_773690764

4 SubmittersRCV000415032 RCV000789659 RCV002521458 RCV003987526

NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)

SNV
Germline

Chr14:101979951

Conflicting classifications of pathogenicity

Pes cavus
Hammertoe
Myopathy
Distal lower limb amyotrophy
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Dyneinopathy
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA16043476

rs_879253979

13 SubmittersRCV000414974 RCV000512659 RCV000649558 RCV001266345 RCV003325406 RCV004719809 RCV005869411

NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)

SNV
Germline

Chr14:102012450

Pathogenic/Likely pathogenic

Delayed gross motor development
Delayed speech and language development
Global developmental delay
Microcephaly
Seizure
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Intellectual disability, autosomal dominant 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16043479

rs_1057518961

6 SubmittersRCV000414777 RCV001198404 RCV001267559 RCV003223402

NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)

SNV
Germline

Chr14:102016791

Conflicting classifications of pathogenicity

9 conditions
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16043480

rs_1057518888

3 SubmittersRCV000415121 RCV002521456 RCV003144253

NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)

SNV
Germline

Chr15:44584299

Pathogenic/Likely pathogenic

Difficulty walking
Spastic paraparesis
Generalized hyperreflexia
Gait disturbance
Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis
Inborn genetic diseases
Hereditary spastic paraplegia 11
Juvenile amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA7534422

rs_201689565

20 SubmittersRCV000414944 RCV000801301 RCV001268887 RCV001848737 RCV003105892 RCV003168606 RCV003483611 RCV004767249 RCV005010315

NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)

SNV
Germline

ChrX:130130094

Conflicting classifications of pathogenicity

Leukodystrophy
Spondyloepimetaphyseal dysplasia, Bieganski type
Condition: not provided
Charcot-Marie-Tooth disease X-linked recessive 4
Thyroid cancer, nonmedullary, 1
Charcot-Marie-Tooth Neuropathy X
Combined oxidative phosphorylation deficiency

Criteria Provided
Conflicting Classifications

CA10515240

rs_761953453

5 SubmittersRCV000414973 RCV001198204 RCV002307493 RCV002470855 RCV005900680 RCV006555902

NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)

SNV
Germline

ChrX:130137134

Pathogenic/Likely pathogenic

Foot dorsiflexor weakness
Pes planus
Sensorineural hearing loss disorder
Distal muscle weakness
Charcot-Marie-Tooth disease X-linked recessive 4
Condition: not provided
Combined oxidative phosphorylation deficiency
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA16043577

rs_1057518895

5 SubmittersRCV000415225 RCV000789722 RCV001311404 RCV001385157

NM_000166.6(GJB1):c.109G>T (p.Val37Leu)

SNV
Germline

ChrX:71223816

Conflicting classifications of pathogenicity

8 conditions
Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA16043599

rs_1057518946

4 SubmittersRCV000415308 RCV000797143 RCV000991852 RCV000789238

NM_000166.6(GJB1):c.502T>G (p.Cys168Gly)

SNV
Germline

ChrX:71224209

Conflicting classifications of pathogenicity

Pes cavus
Hammertoe
Decreased nerve conduction velocity
Sensory neuropathy
Distal muscle weakness
Peroneal muscle atrophy
Distal lower limb muscle weakness
Hand muscle atrophy
Pes cavus
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Conflicting Classifications

CA16043600

rs_1057518780

2 SubmittersRCV000415205 RCV000414760 RCV001199043 RCV005090683

NM_002047.4(GARS1):c.90C>T (p.Leu30=)

SNV
Germline

Chr7:30595011

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA16043810

rs_1057519166

3 SubmittersRCV000415883 RCV001089151 RCV004022185

NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val)

SNV
Germline

Chr19:10802321

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA9201169

rs_758246840

5 SubmittersRCV000416279 RCV000516502 RCV000641098

NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)

SNV
Germline

Chr5:149040658

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499401

rs_144963732

9 SubmittersRCV000416281 RCV000654078 RCV001173823 RCV001153291 RCV001153292 RCV002392943

NM_002972.4(SBF1):c.898-4G>A

SNV
Germline

Chr22:50466078

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3
not specified

Criteria Provided
Conflicting Classifications

CA10317913

rs_377428323

7 SubmittersRCV000416032 RCV001000978 RCV005238971

NM_001376.5(DYNC1H1):c.8416A>G (p.Ile2806Val)

SNV
Germline

Chr14:102019965

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353018

rs_777184216

2 SubmittersRCV000415741 RCV002521483

NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)

SNV
Germline

Chr5:149027090

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3498953

rs_80338930

8 SubmittersRCV000456313 RCV000441336 RCV000789561 RCV001353153 RCV005033952

NM_014874.4(MFN2):c.2157G>A (p.Lys719=)

SNV
Germline

Chr1:12009679

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA599346

rs_148441213

6 SubmittersRCV000658495 RCV001096345 RCV001080381 RCV001172998 RCV002429357

NM_014874.4(MFN2):c.2026G>A (p.Val676Ile)

SNV
Germline

Chr1:12007206

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA16603417

rs_1057520619

2 SubmittersRCV000426802 RCV006555925

NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=)

SNV
Germline

Chr1:6468085

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561096

rs_370666430

5 SubmittersRCV000873146 RCV001099763 RCV001720061 RCV002436260

NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)

SNV
Germline

Chr1:6470312

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
not specified

Criteria Provided
Conflicting Classifications

CA561393

rs_77134982

5 SubmittersRCV000513012 RCV001082221 RCV001099855 RCV006447153

NM_003680.4(YARS1):c.381-6C>T

SNV
Germline

Chr1:32806617

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease dominant intermediate C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA745209

rs_376982377

3 SubmittersRCV000422408 RCV000869056 RCV006436783

NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=)

SNV
Germline

Chr1:6472610

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561677

rs_148232621

4 SubmittersRCV000428978 RCV000728441 RCV001413481 RCV002379325

NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=)

SNV
Germline

Chr1:6471533

Conflicting classifications of pathogenicity

not specified
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided
Inborn genetic diseases
PLEKHG5-related disorder

Criteria Provided
Conflicting Classifications

CA561595

rs_376823275

8 SubmittersRCV000428182 RCV000557715 RCV001101849 RCV001718861 RCV002365475 RCV003957912

NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)

SNV
Germline

Chr2:27312768

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Mitochondrial DNA depletion syndrome
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Criteria Provided
Multiple Submitters
No Conflicts

CA1575632

rs_375401970

14 SubmittersRCV000439109 RCV000855706 RCV003227483 RCV003401418 RCV003470380 RCV005027487

NM_024577.4(SH3TC2):c.2873-4T>A

SNV
Germline

Chr5:149026756

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498900

rs_771093927

3 SubmittersRCV000874161 RCV001704386 RCV002436319

NM_014845.6(FIG4):c.446+9G>A

SNV
Germline

Chr6:109727274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA3955766

rs_190287033

11 SubmittersRCV000418496 RCV000710135 RCV001086795 RCV001153952 RCV001153953 RCV001173266

NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)

SNV
Germline

Chr5:149027965

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499130

rs_139898175

6 SubmittersRCV000762175 RCV001153180 RCV001153179 RCV001172847 RCV001081855 RCV002411399

NM_014845.6(FIG4):c.33G>C (p.Ser11=)

SNV
Germline

Chr6:109691468

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955640

rs_527523781

6 SubmittersRCV000433196 RCV001418759 RCV001158140 RCV001158141 RCV001173276 RCV002451035 RCV003970216

NM_002047.4(GARS1):c.69G>A (p.Arg23=)

SNV
Germline

Chr7:30594990

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205582

rs_762624758

4 SubmittersRCV000418046 RCV000512778 RCV002521702

NM_002047.4(GARS1):c.408A>G (p.Gln136=)

SNV
Germline

Chr7:30600030

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
GARS1-related disorder

Criteria Provided
Conflicting Classifications

CA4205690

rs_200279483

8 SubmittersRCV000421000 RCV000487956 RCV001087196 RCV001172979 RCV003970177

NM_006096.4(NDRG1):c.*2C>T

SNV
Germline

Chr8:133238876

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4D

Criteria Provided
Conflicting Classifications

CA4886399

rs_200367524

2 SubmittersRCV000442327 RCV001162004

NM_006096.4(NDRG1):c.789G>A (p.Ser263=)

SNV
Germline

Chr8:133247893

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
Inborn genetic diseases
NDRG1-related disorder

Criteria Provided
Conflicting Classifications

CA4886586

rs_61755062

12 SubmittersRCV000424651 RCV000712375 RCV001081907 RCV001164018 RCV001173724 RCV002418263 RCV003922734

NM_006096.4(NDRG1):c.-8G>A

SNV
Germline

Chr8:133284319

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4D
NDRG1-related disorder

Criteria Provided
Conflicting Classifications

CA4886952

rs_200465804

3 SubmittersRCV000432184 RCV001164118 RCV003925299

NM_003172.4(SURF1):c.240+1G>T

SNV
Germline

Chr9:133354823

Pathogenic

Condition: not provided
Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16605409

rs_781948238

5 SubmittersRCV000422985 RCV001260417 RCV002502493

NM_001005373.4(LRSAM1):c.620-3C>T

SNV
Germline

Chr9:127473798

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
Inborn genetic diseases
LRSAM1-related disorder

Criteria Provided
Conflicting Classifications

CA5246639

rs_373015900

6 SubmittersRCV000703907 RCV001720098 RCV002356545 RCV003972602

NM_018972.4(GDAP1):c.485-3C>T

SNV
Germline

Chr8:74361881

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Conflicting Classifications

CA4785122

rs_761332159

2 SubmittersRCV000427093 RCV001046589

NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)

SNV
Germline

Chr9:92032485

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary sensory and autonomic neuropathy type 1
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5121188

rs_748723735

5 SubmittersRCV000488106 RCV000692000 RCV001174084 RCV002393027

NM_001540.5(HSPB1):c.-15G>A

SNV
Germline

Chr7:76302698

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4306219

rs_756260929

3 SubmittersRCV000426106 RCV001172545 RCV003278799

NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln)

SNV
Germline

Chr10:62813572

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA16606029

rs_751448371

2 SubmittersRCV000433767 RCV000638173

NM_016156.6(MTMR2):c.1770+3A>G

SNV
Germline

Chr11:95836145

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16606043

rs_756909627

3 SubmittersRCV000421188 RCV001172713 RCV002402162

NM_018972.4(GDAP1):c.693A>T (p.Pro231=)

SNV
Germline

Chr8:74363052

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease recessive intermediate A
Lung cancer

Criteria Provided
Conflicting Classifications

CA4785166

rs_181157785

5 SubmittersRCV000440113 RCV000643968 RCV001161258 RCV001173322 RCV001161259 RCV005896258

NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met)

SNV
Germline

Chr9:127495321

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5247076

rs_141542114

4 SubmittersRCV000863528 RCV001174252 RCV002266963

NM_002180.3(IGHMBP2):c.1236-10C>T

SNV
Germline

Chr11:68933289

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA6153581

rs_778515935

3 SubmittersRCV000440173 RCV001111940 RCV000952092

NM_001122955.4(BSCL2):c.1006-8C>T

SNV
Germline

Chr11:62691149

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA16606348

rs_1057521013

3 SubmittersRCV000441305 RCV001662383 RCV002524893

NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)

SNV
Germline

Chr12:109783678

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6779858

rs_139580010

4 SubmittersRCV000435520 RCV000726593 RCV001479007 RCV002436333

NM_002180.3(IGHMBP2):c.2612-13G>A

SNV
Germline

Chr11:68938169

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA6153969

rs_369494910

2 SubmittersRCV001698304 RCV002059966

NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)

SNV
Germline

Chr11:68938189

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153970

rs_373001247

5 SubmittersRCV000761791 RCV001172583 RCV001488391 RCV002451034

NM_002180.3(IGHMBP2):c.2784+7C>T

SNV
Germline

Chr11:68938361

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA6154003

rs_58094037

3 SubmittersRCV000425087 RCV001113836 RCV002062515

NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)

SNV
Germline

Chr11:95841665

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B1
MTMR2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6239993

rs_200285624

5 SubmittersRCV000424749 RCV001421927 RCV001114204 RCV003912783 RCV002393063

NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)

SNV
Germline

Chr12:109798728

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2C
Spondylometaphyseal dysplasia, Kozlowski type
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Scapuloperoneal spinal muscular atrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780365

rs_750086412

4 SubmittersRCV000423115 RCV001112517 RCV001112518 RCV001112514 RCV001112515 RCV001112516 RCV001113853 RCV002393013

NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)

SNV
Germline

Chr14:104714265

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7373180

rs_368995122

9 SubmittersRCV000525037 RCV000757410 RCV001113918 RCV002323635 RCV005431664

NM_004990.4(MARS1):c.1540-3C>T

SNV
Germline

Chr12:57512005

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
MARS1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6650547

rs_372013808

5 SubmittersRCV000432010 RCV002230049 RCV003392242 RCV006450173

NM_004990.4(MARS1):c.2391A>C (p.Thr797=)

SNV
Germline

Chr12:57515336

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease
Condition: not provided
MARS1-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Uterine carcinosarcoma
Acute myeloid leukemia
Cervical cancer
Familial cancer of breast
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma

Criteria Provided
Conflicting Classifications

CA6650784

rs_140573721

9 SubmittersRCV000428931 RCV000555547 RCV001173652 RCV001532701 RCV003942439 RCV005898090 RCV005898092 RCV005898091 RCV005898086 RCV005898087 RCV005898084 RCV005898093 RCV005898088 RCV005898085 RCV005898089

NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)

SNV
Germline

Chr14:101985785

Conflicting classifications of pathogenicity

not specified
Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351719

rs_761916499

3 SubmittersRCV000425207 RCV001110992 RCV001110991

NM_001376.5(DYNC1H1):c.3015+3A>G

SNV
Germline

Chr14:101991676

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16606749

rs_1057522534

3 SubmittersRCV000426443 RCV001223486 RCV002436309

NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)

SNV
Germline

Chr14:102027997

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Condition: not provided
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7353207

rs_142338762

5 SubmittersRCV000649647 RCV001114864 RCV001704376 RCV003912739

NM_022489.4(INF2):c.782G>A (p.Arg261Gln)

SNV
Germline

Chr14:104706115

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372422

rs_749543418

2 SubmittersRCV001221125 RCV004719080

NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg)

SNV
Germline

Chr11:68914941

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA6153406

rs_112495985

4 SubmittersRCV000442407 RCV000703580

NM_002180.3(IGHMBP2):c.1236-6G>A

SNV
Germline

Chr11:68933293

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153582

rs_201538340

4 SubmittersRCV000856970 RCV000550003 RCV002058974 RCV002365517

NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=)

SNV
Germline

Chr11:68936619

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153844

rs_199879444

4 SubmittersRCV000871155 RCV001109736 RCV001698230 RCV002429427

NM_016156.6(MTMR2):c.1386A>G (p.Leu462=)

SNV
Germline

Chr11:95844953

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6240022

rs_139369561

4 SubmittersRCV000438852 RCV000536584 RCV001173019 RCV003352862

NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)

SNV
Germline

Chr11:9787634

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
SBF2-related disorder

Criteria Provided
Conflicting Classifications

CA5880829

rs_200784979

9 SubmittersRCV000440809 RCV000456931 RCV001114389 RCV001173807 RCV001815388 RCV002339027 RCV003932612

NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu)

SNV
Germline

Chr12:109814654

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780614

rs_756185743

4 SubmittersRCV001288531 RCV001851063 RCV002393035

NM_001605.3(AARS1):c.1275T>C (p.Thr425=)

SNV
Germline

Chr16:70265610

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140861

rs_750552137

5 SubmittersRCV000438029 RCV000727507 RCV001471474 RCV002461174

NM_001605.3(AARS1):c.480-12C>G

SNV
Germline

Chr16:70271984

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8141121

rs_199728312

2 SubmittersRCV001698239 RCV002230051

NM_001605.3(AARS1):c.1842C>T (p.Ala614=)

SNV
Germline

Chr16:70259130

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16607469

rs_1057521642

4 SubmittersRCV000435969 RCV002230041 RCV002461151 RCV003422402

NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr)

SNV
Germline

Chr16:70265045

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140823

rs_141486562

4 SubmittersRCV000423363 RCV000795287 RCV002461164

NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met)

SNV
Germline

Chr14:101986052

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351738

rs_760971556

2 SubmittersRCV000427964 RCV000806150

NM_000304.4(PMP22):c.448G>C (p.Gly150Arg)

SNV
Germline

Chr17:15230952

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16607534

rs_104894624

3 SubmittersRCV000435815 RCV000687146 RCV005252892

NM_000304.4(PMP22):c.320-4C>T

SNV
Germline

Chr17:15231084

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8403322

rs_377467465

6 SubmittersRCV000726910 RCV001080913 RCV001173926 RCV002323607

NM_001376.5(DYNC1H1):c.8771+6C>A

SNV
Germline

Chr14:102026713

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353106

rs_756924858

2 SubmittersRCV000443351 RCV001861528

NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)

SNV
Germline

Chr14:102034084

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Intellectual disability, autosomal dominant 13
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Criteria Provided
Conflicting Classifications

CA7353426

rs_149496322

8 SubmittersRCV000430861 RCV000461707 RCV000711517 RCV001291673 RCV002313049 RCV003224275

NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)

SNV
Germline

Chr14:102036630

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353492

rs_200903643

3 SubmittersRCV001113558 RCV001113559 RCV001721377

NM_181882.3(PRX):c.2832T>C (p.Ala944=)

SNV
Germline

Chr19:40395520

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9443971

rs_145226687

5 SubmittersRCV000425577 RCV000862651 RCV001131684 RCV002436311 RCV003902579

NM_181882.3(PRX):c.2164A>G (p.Met722Val)

SNV
Germline

Chr19:40396188

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9444114

rs_376309142

5 SubmittersRCV000811458 RCV001704468 RCV002522436 RCV003970203

NM_181882.3(PRX):c.445G>A (p.Ala149Thr)

SNV
Germline

Chr19:40397907

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9444458

rs_142436391

6 SubmittersRCV000439721 RCV001079149 RCV001173773 RCV002328964 RCV003942403

NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)

SNV
Germline

Chr19:40394550

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9443783

rs_146061247

5 SubmittersRCV000460920 RCV001132595 RCV001173097 RCV001703726

NM_001605.3(AARS1):c.1546G>C (p.Val516Leu)

SNV
Germline

Chr16:70262471

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140758

rs_143844046

3 SubmittersRCV000443779 RCV001299591 RCV002522363

NM_001605.3(AARS1):c.1060G>A (p.Val354Ile)

SNV
Germline

Chr16:70268282

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140941

rs_762395098

3 SubmittersRCV000438880 RCV002230062 RCV006302168

NM_000304.4(PMP22):c.177C>T (p.Asn59=)

SNV
Germline

Chr17:15259095

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8403416

rs_376797385

2 SubmittersRCV000556784 RCV001704423

NM_005391.5(PDK3):c.376A>G (p.Met126Val)

SNV
Germline

ChrX:24503382

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease
PDK3-related disorder

Criteria Provided
Conflicting Classifications

CA10372281

rs_138321172

10 SubmittersRCV000432171 RCV000513112 RCV001081421 RCV001173742 RCV003912670

NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)

SNV
Germline

ChrX:71224366

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16608986

rs_1057524799

4 SubmittersRCV000423810 RCV001828457 RCV002522718 RCV005841574

NM_181882.3(PRX):c.2494G>C (p.Val832Leu)

SNV
Germline

Chr19:40395858

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444045

rs_116139153

3 SubmittersRCV000687713 RCV001720038 RCV002429375

NM_000166.6(GJB1):c.*15C>T

SNV
Germline

ChrX:71224574

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16609212

rs_1057520778

3 SubmittersRCV001057812 RCV001782902 RCV004820847

NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)

SNV
Germline

Chr1:10320086

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease
Condition: not provided
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA581460

rs_41274468

7 SubmittersRCV000467791 RCV000760166 RCV001174207 RCV001507419 RCV004022688 RCV005230395

NM_001365951.3(KIF1B):c.2986G>A (p.Val996Ile)

SNV
Germline

Chr1:10334581

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581661

rs_145596547

2 SubmittersRCV000477554 RCV004022686

NM_014874.4(MFN2):c.449G>T (p.Gly150Val)

SNV
Germline

Chr1:11996293

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16609865

rs_1060501918

1 SubmittersRCV000474635

NM_014874.4(MFN2):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr1:11998873

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16609866

rs_879254210

1 SubmittersRCV000469837

NM_014874.4(MFN2):c.751C>T (p.Pro251Ser)

SNV
Germline

Chr1:11999030

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16609868

rs_28940295

1 SubmittersRCV000464171

NM_014874.4(MFN2):c.2221T>G (p.Leu741Val)

SNV
Germline

Chr1:12011512

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Conflicting Classifications

CA16609871

rs_1060501917

4 SubmittersRCV000461042 RCV003133271 RCV005869468

NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys)

SNV
Germline

Chr1:12011511

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16609875

rs_1060501925

1 SubmittersRCV000458069

NM_014874.4(MFN2):c.283A>G (p.Arg95Gly)

SNV
Germline

Chr1:11992662

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16609877

rs_1060501920

3 SubmittersRCV000469424 RCV002473015

NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg)

SNV
Germline

Chr1:12002028

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA16609879

rs_387906991

5 SubmittersRCV000458626 RCV000991837 RCV001174304

NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)

SNV
Germline

Chr1:156115208

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
11 conditions
Cardiovascular phenotype
not specified
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA16609882

rs_1060502216

8 SubmittersRCV000472865 RCV000598315 RCV001524820 RCV002489054 RCV002436430 RCV003387849 RCV004000799

NM_170707.4(LMNA):c.122G>A (p.Arg41His)

SNV
Germline

Chr1:156115040

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16609885

rs_1060502215

2 SubmittersRCV000457713 RCV000994129

NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)

SNV
Germline

Chr1:156136082

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16609888

rs_1060502214

1 SubmittersRCV000458536

NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)

SNV
Germline

Chr1:156135952

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16609891

rs_1060502211

1 SubmittersRCV000467141

NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)

SNV
Germline

Chr1:161306855

Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA16609892

rs_1060503423

2 SubmittersRCV000465572 RCV000986450

NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)

SNV
Germline

Chr1:161306878

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16609893

rs_1060503418

5 SubmittersRCV000474970 RCV000789446 RCV002436458 RCV002473018

NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)

SNV
Germline

Chr1:161306831

Pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA16609894

rs_1060503420

2 SubmittersRCV000477088 RCV000790084

NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)

SNV
Germline

Chr1:161307259

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided
MPZ-related disorder
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA16609896

rs_121913601

6 SubmittersRCV000470689 RCV000789070 RCV001289097 RCV004533201 RCV006452661

NM_003680.4(YARS1):c.1228G>A (p.Val410Met)

SNV
Germline

Chr1:32780191

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA744948

rs_146393022

4 SubmittersRCV000457658 RCV002461223 RCV003328588

NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)

SNV
Germline

Chr6:109741502

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
not specified
Condition: not provided
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955919

rs_138048706

12 SubmittersRCV000462434 RCV000662127 RCV000662128 RCV000662129 RCV000662126 RCV001662424 RCV001573278 RCV002411445 RCV003970280

NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln)

SNV
Germline

Chr5:149028125

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499150

rs_369977771

5 SubmittersRCV000458241 RCV000762176 RCV001174038 RCV002523308

NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)

SNV
Germline

Chr5:149028249

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3499167

rs_10077543

5 SubmittersRCV000462842 RCV000507530 RCV001173158 RCV002393104 RCV004533178

NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr)

SNV
Germline

Chr5:149052220

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499635

rs_10066882

4 SubmittersRCV000471681 RCV000508286 RCV001173159 RCV002383875

NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)

SNV
Germline

Chr5:149042706

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499489

rs_147633804

6 SubmittersRCV000457307 RCV000765821 RCV000992973 RCV001174034 RCV002339147

NM_002047.4(GARS1):c.1415A>G (p.His472Arg)

SNV
Germline

Chr7:30621448

Pathogenic

Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2D
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA16612091

rs_1060502838

8 SubmittersRCV000459084 RCV000664213 RCV000789777 RCV000790256 RCV003332179 RCV004022757

NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)

SNV
Germline

Chr7:30598835

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2D
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4205632

rs_201728920

4 SubmittersRCV000460329 RCV000764711 RCV001552121 RCV004022755

NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)

SNV
Germline

Chr7:76302728

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4306231

rs_1049324

4 SubmittersRCV000762456 RCV001087087 RCV002411496

NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)

SNV
Germline

Chr8:74360284

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease
Peripheral neuropathy
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4785102

rs_538412810

7 SubmittersRCV000471926 RCV000789054 RCV001836822 RCV003447135 RCV002506106 RCV004719824

NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys)

SNV
Germline

Chr7:30628565

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA16612353

rs_1060502839

1 SubmittersRCV000468725

NM_001005373.4(LRSAM1):c.2062C>A (p.Leu688Ile)

SNV
Germline

Chr9:127502789

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5247257

rs_765956865

2 SubmittersRCV000476960 RCV002418378

NM_006158.5(NEFL):c.821A>G (p.Gln274Arg)

SNV
Germline

Chr8:24955695

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4681434

rs_756114856

2 SubmittersRCV000460408 RCV004022902

NM_006096.4(NDRG1):c.205+1G>A

SNV
Germline

Chr8:133264546

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16612479

rs_1060503092

4 SubmittersRCV000468626 RCV001782955 RCV005600936

NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)

SNV
Germline

Chr9:127455019

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246376

rs_150784835

6 SubmittersRCV000463775 RCV000493063 RCV001173637 RCV002374777

NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg)

SNV
Germline

Chr9:127502807

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA5247259

rs_759312530

1 SubmittersRCV000468628

NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)

SNV
Germline

Chr9:127479496

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5246730

rs_771491533

4 SubmittersRCV000460528 RCV002446877 RCV006452665

NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)

SNV
Germline

Chr10:62813403

Pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1D

Criteria Provided
Single Submitter

CA5517167

rs_749558026

3 SubmittersRCV000462944 RCV000789746 RCV003447138

NM_030962.4(SBF2):c.402+5A>G

SNV
Germline

Chr11:10031043

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16613209

rs_1060503800

2 SubmittersRCV001398325 RCV002374819

NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)

SNV
Germline

Chr11:62690795

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
not specified
Neuronopathy, distal hereditary motor, type 5C
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6053319

rs_149907021

8 SubmittersRCV000464780 RCV001091623 RCV002374810 RCV001848815 RCV003317226 RCV002489080 RCV005625614

NM_030962.4(SBF2):c.5037+1G>A

SNV
Germline

Chr11:9787633

Pathogenic

Charcot-Marie-Tooth disease type 4
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

CA16613472

rs_1060499999

2 SubmittersRCV000471492 RCV005898432

NM_030962.4(SBF2):c.2536+1G>A

SNV
Germline

Chr11:9853539

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA16613653

rs_1060500001

1 SubmittersRCV000471792

NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)

SNV
Germline

Chr12:109788632

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
11 conditions
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780041

rs_779715512

7 SubmittersRCV000468536 RCV000765040 RCV001173491 RCV001764416 RCV002418397

NM_021625.5(TRPV4):c.300G>A (p.Lys100=)

SNV
Germline

Chr12:109814497

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
not specified
Connective tissue disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780582

rs_370135765

4 SubmittersRCV000476486 RCV000599877 RCV002279234 RCV002436500

NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter)

SNV
Germline

Chr12:32625747

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA6506992

rs_778377449

1 SubmittersRCV000465770

NM_001370298.3(FGD4):c.2625T>C (p.Ala875=)

SNV
Germline

Chr12:32640446

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6507132

rs_200144770

3 SubmittersRCV001488811 RCV002429596 RCV005641637

NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp)

SNV
Germline

Chr14:102002933

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614049

rs_1060502204

3 SubmittersRCV000476505 RCV002329050 RCV004791474

NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=)

SNV
Germline

Chr14:102002831

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352303

rs_374033335

2 SubmittersRCV000458133 RCV000604213

NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His)

SNV
Germline

Chr14:102015238

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA16614345

rs_1028991666

3 SubmittersRCV000466907 RCV002244937 RCV003418183

NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)

SNV
Germline

Chr15:44585636

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Intellectual disability
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Thyroid cancer, nonmedullary, 1
Malignant tumor of esophagus
not specified
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534494

rs_145643238

18 SubmittersRCV000456956 RCV000658710 RCV001252107 RCV002467809 RCV002339138 RCV002467808 RCV003483617 RCV005899444 RCV005899443 RCV003488606 RCV004748768

NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile)

SNV
Germline

Chr14:102010755

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352626

rs_765613848

3 SubmittersRCV000463690 RCV000498549 RCV002365636

NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile)

SNV
Germline

Chr14:102042720

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related neuronopathy

Criteria Provided
Conflicting Classifications

CA7353937

rs_754437318

2 SubmittersRCV000465263 RCV002466504

NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)

SNV
Germline

Chr15:44608577

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
not specified

Criteria Provided
Conflicting Classifications

CA7534998

rs_201271196

4 SubmittersRCV000472310 RCV002323697 RCV002496754 RCV003155188

NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)

SNV
Germline

Chr15:44608472

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
SPG11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7534986

rs_201082396

11 SubmittersRCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV001848803 RCV002467814 RCV002467815 RCV003401464 RCV006268783

NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg)

SNV
Germline

Chr16:11553608

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7904089

rs_201283647

6 SubmittersRCV000463036 RCV000829946 RCV001173622 RCV002436379

NM_001136472.2(LITAF):c.151C>T (p.Pro51Ser)

SNV
Germline

Chr16:11556580

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7904171

rs_752978718

2 SubmittersRCV000475570 RCV005659917

NM_000304.4(PMP22):c.178+7C>A

SNV
Germline

Chr17:15259087

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Hereditary liability to pressure palsies
Tip-toe gait
PMP22-related disorder

Criteria Provided
Conflicting Classifications

CA8403414

rs_147885521

11 SubmittersRCV000456190 RCV000614118 RCV001081441 RCV001173928 RCV001122570 RCV001543104 RCV004535491

NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)

SNV
Germline

Chr16:70268323

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140950

rs_140135726

12 SubmittersRCV000461393 RCV000999701 RCV001700185 RCV001330613 RCV002461217

NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)

SNV
Germline

Chr17:15260660

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16615515

rs_906563423

6 SubmittersRCV000471834 RCV000789510 RCV001701010

NM_001005361.3(DNM2):c.699C>T (p.Gly233=)

SNV
Germline

Chr19:10782970

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9200877

rs_751844947

3 SubmittersRCV000474419 RCV002365665 RCV003144276

NM_181882.3(PRX):c.4317C>T (p.Ser1439=)

SNV
Germline

Chr19:40394035

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA9443640

rs_372280596

4 SubmittersRCV000464273 RCV001337127 RCV002329132 RCV004999511

NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)

SNV
Germline

Chr19:40395624

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9443992

rs_145203783

4 SubmittersRCV000476039 RCV001132700 RCV002429526 RCV004696236

NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)

SNV
Germline

Chr19:40395804

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444034

rs_141686828

10 SubmittersRCV000461499 RCV000712866 RCV001136100 RCV001173750 RCV001643174 RCV002436448

NM_181882.3(PRX):c.1391G>A (p.Arg464Gln)

SNV
Germline

Chr19:40396961

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444272

rs_553211374

3 SubmittersRCV000459879 RCV001810956 RCV004955513

NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)

SNV
Germline

ChrX:71223772

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16616533

rs_1060501002

13 SubmittersRCV000475257 RCV000517974 RCV000789225 RCV000853377 RCV002365620

NM_000166.6(GJB1):c.101T>C (p.Met34Thr)

SNV
Germline

ChrX:71223808

Pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
GJB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16616534

rs_1060500998

3 SubmittersRCV000467465 RCV000789955 RCV003401459

NM_014874.4(MFN2):c.830A>G (p.His277Arg)

SNV
Germline

Chr1:12001414

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA16616964

rs_1064794316

2 SubmittersRCV000482327 RCV000789406

NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu)

SNV
Germline

Chr1:12002021

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16616965

rs_1064795818

3 SubmittersRCV000486402 RCV000857101 RCV001856863

NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys)

SNV
Germline

Chr1:12011521

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Multiple symmetric lipomatosis
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Conflicting Classifications

CA16616967

rs_1064794571

4 SubmittersRCV000486011 RCV000698484 RCV001027466 RCV005222960

NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)

SNV
Germline

Chr1:156875639

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA1169334

rs_144901788

9 SubmittersRCV000486476 RCV000631332 RCV000789503 RCV003317235

NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)

SNV
Germline

Chr1:161307386

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA16617016

rs_864622732

3 SubmittersRCV000478575 RCV000790071 RCV003581668

NM_020631.6(PLEKHG5):c.440-2A>G

SNV
Germline

Chr1:6474166

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Conflicting Classifications

CA561841

rs_144750655

10 SubmittersRCV000485207 RCV000705445 RCV002329162 RCV005407145

NM_002437.5(MPV17):c.461G>T (p.Arg154Met)

SNV
Germline

Chr2:27311899

Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA16617524

rs_886044113

4 SubmittersRCV000485587 RCV000625516 RCV003470524

NM_002437.5(MPV17):c.408+1G>A

SNV
Germline

Chr2:27312213

Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Criteria Provided
Multiple Submitters
No Conflicts

CA1575532

rs_749361266

6 SubmittersRCV000479349 RCV000763082 RCV004568213 RCV005027561

NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)

SNV
Germline

Chr5:149028147

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3499152

rs_750529207

4 SubmittersRCV000484690 RCV000792222 RCV004586727

NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)

SNV
Germline

Chr6:109738415

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 11
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16618230

rs_776005417

8 SubmittersRCV000478168 RCV000763552 RCV001232367 RCV002525832 RCV003447141 RCV003419795

NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)

SNV
Germline

Chr7:30598826

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2D
Neuronopathy, distal hereditary motor, type 5A
Distal spinal muscular atrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4205629

rs_200294578

9 SubmittersRCV000486004 RCV000694201 RCV001164409 RCV001164407 RCV001164408 RCV001509302

NM_001540.5(HSPB1):c.416C>T (p.Thr139Met)

SNV
Germline

Chr7:76303853

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA16618562

rs_1064795077

4 SubmittersRCV000486834 RCV001383411

NM_018972.4(GDAP1):c.89A>T (p.His30Leu)

SNV
Germline

Chr8:74350550

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Conflicting Classifications

CA16618692

rs_896431562

3 SubmittersRCV000482807 RCV002525760

NM_001005373.4(LRSAM1):c.1504-2A>G

SNV
Germline

Chr9:127492800

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA16618735

rs_1064797013

2 SubmittersRCV000478929 RCV002526989

NM_018082.6(POLR3B):c.2084-6A>G

SNV
Germline

Chr12:106454496

Pathogenic/Likely pathogenic

Condition: not provided
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Multiple Submitters
No Conflicts

CA6762126

rs_747912710

13 SubmittersRCV000484819 RCV001195929 RCV004691238

NM_021625.5(TRPV4):c.2401A>G (p.Lys801Glu)

SNV
Germline

Chr12:109784373

Conflicting classifications of pathogenicity

Condition: not provided
TRPV4-related disorder
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA16619425

rs_1064795536

4 SubmittersRCV000478473 RCV005416274 RCV006463002

NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu)

SNV
Germline

Chr12:109788695

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Connective tissue disorder
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6780047

rs_35058636

8 SubmittersRCV000862047 RCV001174117 RCV002279236 RCV001704588 RCV002413317 RCV006458396

NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln)

SNV
Germline

Chr12:109798822

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA16619427

rs_1064795696

2 SubmittersRCV000486469 RCV000823337

NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)

SNV
Germline

Chr12:57490377

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
MARS1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6650233

rs_200334446

5 SubmittersRCV000487353 RCV000652560 RCV003419800 RCV004023138

NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)

SNV
Germline

Chr14:102002950

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability, autosomal dominant 13
Lissencephaly
Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16619826

rs_1064796765

6 SubmittersRCV000481138 RCV000626029 RCV001291066 RCV002525958 RCV004745423

NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu)

SNV
Germline

Chr16:70258044

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA8140547

rs_115882953

6 SubmittersRCV000482541 RCV001081608 RCV002461244 RCV005899634 RCV005899635

NM_001605.3(AARS1):c.985C>T (p.Arg329Cys)

SNV
Germline

Chr16:70268357

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16620263

rs_1064795664

2 SubmittersRCV000480998 RCV002230949

NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe)

SNV
Germline

Chr19:10793797

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Multiple Submitters
No Conflicts

CA16620726

rs_1064793101

3 SubmittersRCV000485589 RCV002221154

NM_181882.3(PRX):c.892C>T (p.Pro298Ser)

SNV
Germline

Chr19:40397460

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9444362

rs_185112635

5 SubmittersRCV000543868 RCV001173761 RCV001721548 RCV004751554

NM_030973.4(MED25):c.316G>A (p.Gly106Arg)

SNV
Germline

Chr19:49828459

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B2
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Condition: not provided
Charcot-Marie-Tooth disease type 2
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA9584809

rs_535472885

4 SubmittersRCV001249635 RCV000482797 RCV001238346 RCV003319988

NM_001303256.3(MORC2):c.798G>C (p.Arg266Ser)

SNV
Germline

Chr22:30941459

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Multiple Submitters
No Conflicts

CA16621096

rs_1064796495

2 SubmittersRCV000479173 RCV001856876

NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)

SNV
Germline

Chr22:30946373

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2Z
MORC2-related developmental disorder
Neurodevelopmental disorder
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
MORC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16621097

rs_1064795559

13 SubmittersRCV000480527 RCV000818851 RCV000991213 RCV001374919 RCV001281382 RCV003409664

NM_000166.6(GJB1):c.14G>T (p.Gly5Val)

SNV
Germline

ChrX:71223721

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA16621491

rs_1064793139

4 SubmittersRCV000480735 RCV000697574 RCV001027491

NM_000166.6(GJB1):c.566T>G (p.Val189Gly)

SNV
Germline

ChrX:71224273

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA16621493

rs_1064794244

3 SubmittersRCV000480241 RCV000789819 RCV000809132

NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro)

SNV
Germline

Chr1:12002079

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA16621558

rs_1064797107

3 SubmittersRCV000488156 RCV003766729

NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)

SNV
Germline

Chr1:156115076

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16621576

rs_60290646

2 SubmittersRCV000816556 RCV000488077

NM_170707.4(LMNA):c.1764C>T (p.Cys588=)

SNV
Germline

Chr1:156138553

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051286

rs_759016336

5 SubmittersRCV000488247 RCV002404275 RCV002525985 RCV004806369

NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu)

SNV
Germline

Chr11:68939618

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6154047

rs_370985388

5 SubmittersRCV000488186 RCV000811896 RCV001173335 RCV002438190

NM_001376.5(DYNC1H1):c.1312G>A (p.Val438Ile)

SNV
Germline

Chr14:101983460

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA16621664

rs_1034508175

2 SubmittersRCV000487662 RCV001851287

NM_001376.5(DYNC1H1):c.5209A>G (p.Thr1737Ala)

SNV
Germline

Chr14:102004921

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA16621665

rs_1064797192

2 SubmittersRCV000488070 RCV003528176

NM_001376.5(DYNC1H1):c.5818-4C>T

SNV
Germline

Chr14:102008174

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352499

rs_532720319

3 SubmittersRCV000488343 RCV002056809 RCV002356796

NM_001376.5(DYNC1H1):c.8703T>C (p.Tyr2901=)

SNV
Germline

Chr14:102026639

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353100

rs_755411424

2 SubmittersRCV000488023 RCV002525990

NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)

SNV
Germline

Chr1:156134508

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342817053

rs_1085307888

2 SubmittersRCV000490224 RCV003743751

NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln)

SNV
Germline

Chr1:6468047

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561092

rs_376237905

4 SubmittersRCV000490184 RCV000560252 RCV002438195

NM_024577.4(SH3TC2):c.3676-8G>A

SNV
Germline

Chr5:149004910

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA3498648

rs_772823083

8 SubmittersRCV000489941 RCV000789578 RCV000824889 RCV001851311 RCV005034026

NM_006096.4(NDRG1):c.660C>A (p.Asn220Lys)

SNV
Germline

Chr8:133250478

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
NDRG1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4886650

rs_143549909

5 SubmittersRCV000488995 RCV001083966 RCV002376893 RCV004755934 RCV006263983

NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr)

SNV
Germline

Chr8:74350570

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4785020

rs_756121249

3 SubmittersRCV000489068 RCV000643969 RCV000624091

NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)

SNV
Germline

Chr11:68906147

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153203

rs_201692151

8 SubmittersRCV000489846 RCV001083586 RCV001173342 RCV002222528 RCV002404282

NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)

SNV
Germline

Chr14:104714697

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373296

rs_778879482

4 SubmittersRCV000490158 RCV000649970 RCV002455952

NM_022489.4(INF2):c.*1+1G>C

SNV
Germline

Chr14:104715341

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373383

rs_758452999

6 SubmittersRCV000786965 RCV001295214 RCV001722412 RCV005355977

NM_000304.4(PMP22):c.365C>T (p.Pro122Leu)

SNV
Germline

Chr17:15231035

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8403316

rs_768085434

4 SubmittersRCV000490010 RCV001348768 RCV002455951 RCV006268810

NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly)

SNV
Germline

Chr1:12011522

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA338454350

rs_1131691782

2 SubmittersRCV000492878 RCV001856973

NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr1:156115225

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342808718

rs_1131691980

2 SubmittersRCV000492819 RCV005091051

NM_170707.4(LMNA):c.439G>C (p.Ala147Pro)

SNV
Germline

Chr1:156130699

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342815415

rs_139875047

2 SubmittersRCV000493099 RCV001060974

NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)

SNV
Germline

Chr1:161306722

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA343348241

rs_121913603

5 SubmittersRCV000494031 RCV001173700 RCV002527111

NM_000530.8(MPZ):c.309G>T (p.Gly103=)

SNV
Germline

Chr1:161306847

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA421405234

rs_1131691852

2 SubmittersRCV001042393 RCV000493821

NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu)

SNV
Germline

Chr14:102000374

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391039381

rs_1131691955

2 SubmittersRCV000492926 RCV000649565

NM_001376.5(DYNC1H1):c.7565C>T (p.Thr2522Met)

SNV
Germline

Chr14:102016440

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352839

rs_528647293

2 SubmittersRCV000494385 RCV001360458

NM_001376.5(DYNC1H1):c.8275A>G (p.Ile2759Val)

SNV
Germline

Chr14:102018548

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391005587

rs_1131691452

4 SubmittersRCV000493975 RCV002227479 RCV003642892

NM_022489.4(INF2):c.1147G>A (p.Val383Met)

SNV
Germline

Chr14:104707414

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372519

rs_780689756

3 SubmittersRCV000493332 RCV001205939 RCV003380593

NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)

SNV
Germline

ChrX:71223855

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
not specified
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Conflicting Classifications

CA413501135

rs_913934445

4 SubmittersRCV000789248 RCV000493545 RCV000518090 RCV001856974

NM_000166.6(GJB1):c.307A>G (p.Lys103Glu)

SNV
Germline

ChrX:71224014

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA413501861

rs_1131691322

3 SubmittersRCV000492924 RCV000789185 RCV000704995

NM_170707.4(LMNA):c.1390A>G (p.Met464Val)

SNV
Germline

Chr1:156136930

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050209

rs_200262654

8 SubmittersRCV000800973 RCV000772026 RCV000725643 RCV002395208 RCV002506209 RCV004003508

NM_007289.4(MME):c.440-2A>C

SNV
Germline

Chr3:155116662

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA2675168

rs_200435950

6 SubmittersRCV000497353 RCV003492079

NM_007289.4(MME):c.1497+1G>C

SNV
Germline

Chr3:155147225

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA355130964

rs_1395068713

3 SubmittersRCV000497869 RCV003492080

NM_007289.4(MME):c.1564C>T (p.Gln522Ter)

SNV
Germline

Chr3:155148616

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T
Spinocerebellar ataxia 43

Criteria Provided
Multiple Submitters
No Conflicts

CA355131131

rs_1553765316

6 SubmittersRCV000498717 RCV001290399 RCV006438106

NM_002047.4(GARS1):c.562G>A (p.Val188Ile)

SNV
Germline

Chr7:30601193

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2D
Distal spinal muscular atrophy
not specified

Criteria Provided
Conflicting Classifications

CA4205736

rs_376772628

5 SubmittersRCV000513263 RCV000819577 RCV001159466 RCV001160833 RCV001159467 RCV004999543

NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn)

SNV
Germline

Chr7:76302989

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA4306301

rs_777201941

3 SubmittersRCV000498200 RCV001084552 RCV001172550

NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)

SNV
Germline

Chr11:68934529

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6153713

rs_140221316

8 SubmittersRCV000733040 RCV001081674 RCV001172569 RCV002404302 RCV005407654

NM_022489.4(INF2):c.3494C>T (p.Ala1165Val)

SNV
Germline

Chr14:104714656

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373277

rs_771044828

3 SubmittersRCV000497978 RCV003766802

NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)

SNV
Germline

Chr17:15239557

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1E

Criteria Provided
Conflicting Classifications

CA398268114

rs_1555565276

5 SubmittersRCV000518311 RCV000498886 RCV000790161 RCV003581670 RCV005252931

NM_001005361.3(DNM2):c.2269C>A (p.Leu757Ile)

SNV
Germline

Chr19:10829246

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA404043224

rs_375820696

3 SubmittersRCV001712458 RCV003258829 RCV006463122

NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)

SNV
Germline

Chr22:30938098

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2Z
MORC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA411239301

rs_1555938796

8 SubmittersRCV000498431 RCV000624267 RCV000689169 RCV003983095

NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)

SNV
Germline

Chr11:68929243

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA381647490

rs_1193634362

3 SubmittersRCV000498252 RCV000856968 RCV001244708

NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)

SNV
Germline

Chr11:68933899

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA6153673

rs_754465226

7 SubmittersRCV000498809 RCV000856971 RCV000664228 RCV001068853 RCV002248737

NM_000304.4(PMP22):c.449G>T (p.Gly150Val)

SNV
Germline

Chr17:15230951

Pathogenic

Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA398739500

rs_879253954

3 SubmittersRCV000499331 RCV001857035 RCV004819225

NM_170707.4(LMNA):c.513+12C>A

SNV
Germline

Chr1:156130785

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA31008193

rs_756758566

3 SubmittersRCV000500206 RCV002060129 RCV005589847

NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)

SNV
Germline

Chr1:156135208

Pathogenic

Muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342817513

rs_1553265433

2 SubmittersRCV000503745 RCV001382395

NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)

SNV
Germline

Chr1:156137212

Pathogenic/Likely pathogenic

Muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342823527

rs_780302064

2 SubmittersRCV000500844 RCV000697810

NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)

SNV
Germline

Chr1:156138575

Conflicting classifications of pathogenicity

Muscular dystrophy
Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051326

rs_769561386

6 SubmittersRCV000503392 RCV000653834 RCV000992277 RCV001526033 RCV004003526

NM_030962.4(SBF2):c.2934+7A>C

SNV
Germline

Chr11:9846949

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA597567066

rs_1475155503

2 SubmittersRCV000501787 RCV001412974

NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)

SNV
Germline

Chr14:101988721

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7351880

rs_372740994

6 SubmittersRCV000502191 RCV000649577 RCV001251969 RCV003278852 RCV004745428

NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu)

SNV
Germline

Chr14:101994252

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351942

rs_775528195

2 SubmittersRCV000504506 RCV000692246

NM_001376.5(DYNC1H1):c.4542+6G>A

SNV
Germline

Chr14:102001687

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352249

rs_375822798

4 SubmittersRCV000502278 RCV001365960 RCV002341185 RCV003884575

NM_001376.5(DYNC1H1):c.7190G>A (p.Arg2397Gln)

SNV
Germline

Chr14:102015280

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352755

rs_751820545

3 SubmittersRCV000501345 RCV001045229 RCV004023370

NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val)

SNV
Germline

Chr14:102027473

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391010795

rs_1187943520

2 SubmittersRCV000502770 RCV001064644

NM_001376.5(DYNC1H1):c.9403C>A (p.Gln3135Lys)

SNV
Germline

Chr14:102028076

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266962940

rs_1049866462

3 SubmittersRCV000504213 RCV001857092 RCV002376919

NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln)

SNV
Germline

Chr14:102036566

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353488

rs_760957660

4 SubmittersRCV000503558 RCV001055761 RCV002431457 RCV004767311

NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met)

SNV
Germline

Chr14:102040330

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266977120

rs_867293260

4 SubmittersRCV001057642 RCV000499950 RCV004760538 RCV005821711

NM_001376.5(DYNC1H1):c.12215-4C>T

SNV
Germline

Chr14:102042224

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA616580581

rs_1174367006

3 SubmittersRCV000500039 RCV002367685 RCV006463142

NM_001376.5(DYNC1H1):c.13261G>A (p.Ala4421Thr)

SNV
Germline

Chr14:102048558

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7354195

rs_376492799

3 SubmittersRCV000501469 RCV000766879 RCV001363378

NM_001376.5(DYNC1H1):c.13278C>T (p.Asp4426=)

SNV
Germline

Chr14:102048575

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7354196

rs_777098264

2 SubmittersRCV000503303 RCV002056845

NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr)

SNV
Germline

Chr14:102050136

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354348

rs_544608488

3 SubmittersRCV000502315 RCV001222150 RCV002383966

NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)

SNV
Germline

Chr17:42541119

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Inborn genetic diseases
Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA290778699

rs_1052471595

11 SubmittersRCV000501703 RCV000624490 RCV001591146 RCV001865629 RCV003319203

NM_014874.4(MFN2):c.1101G>C (p.Gln367His)

SNV
Germline

Chr1:12002044

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA599009

rs_373211062

4 SubmittersRCV000508148 RCV000559610 RCV001809462 RCV002431467

NM_001376.5(DYNC1H1):c.4484A>G (p.Asn1495Ser)

SNV
Germline

Chr14:102001623

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352241

rs_566164007

3 SubmittersRCV000506360 RCV001815340 RCV001857265

NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn)

SNV
Germline

Chr11:68936740

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153868

rs_200499838

3 SubmittersRCV000505881 RCV000705696 RCV002446986

NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg)

SNV
Germline

Chr11:68936506

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153828

rs_149577588

5 SubmittersRCV000505990 RCV000531881 RCV001113753 RCV001591156 RCV002420281

NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg)

SNV
Germline

Chr14:104713598

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373150

rs_551015347

3 SubmittersRCV000507434 RCV000649999 RCV004984924

NM_022489.4(INF2):c.2885A>C (p.Lys962Thr)

SNV
Germline

Chr14:104713451

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Condition: not provided
Inborn genetic diseases
INF2-related disorder

Criteria Provided
Conflicting Classifications

CA7373121

rs_376067427

5 SubmittersRCV000649981 RCV001113917 RCV001810994 RCV002438233 RCV003419879

NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)

SNV
Germline

Chr16:75631490

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease recessive intermediate B
Condition: not provided
Hearing impairment
KARS1-related disorder

Criteria Provided
Conflicting Classifications

CA8177364

rs_149772470

13 SubmittersRCV000506064 RCV000625381 RCV000755555 RCV001375150 RCV004541585

NM_014874.4(MFN2):c.493C>T (p.His165Tyr)

SNV
Germline

Chr1:11997315

Pathogenic

not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA338436254

rs_119103262

3 SubmittersRCV000506106 RCV000789411 RCV000802072

NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp)

SNV
Germline

Chr22:50460398

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B3
Condition: not provided
SBF1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10316839

rs_202156491

5 SubmittersRCV000507445 RCV000885103 RCV003962412 RCV006447279

NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)

SNV
Germline

Chr12:57490608

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA6650265

rs_778753999

4 SubmittersRCV000512787 RCV001225087 RCV003235261

NM_004990.4(MARS1):c.747G>A (p.Pro249=)

SNV
Germline

Chr12:57490621

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA6650270

rs_200490364

4 SubmittersRCV000513080 RCV000557196 RCV004023460

NM_181882.3(PRX):c.1222C>T (p.Pro408Ser)

SNV
Germline

Chr19:40397130

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444299

rs_150244426

5 SubmittersRCV000512796 RCV000654145 RCV001173746 RCV002367706

NM_002972.4(SBF1):c.3147-8G>C

SNV
Germline

Chr22:50460416

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3

Criteria Provided
Conflicting Classifications

CA10316846

rs_182956712

5 SubmittersRCV000512802 RCV005230993

NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter)

SNV
Germline

Chr8:24953770

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA370620660

rs_1429859627

3 SubmittersRCV000513356 RCV002250649 RCV005091170

NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)

SNV
Germline

ChrX:71224036

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA413501934

rs_1555937145

5 SubmittersRCV000512953 RCV000789240 RCV006454683

NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)

SNV
Germline

ChrX:71223757

Likely pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413499562

rs_1555937009

2 SubmittersRCV000512762

NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)

SNV
Germline

ChrX:130156540

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Combined oxidative phosphorylation deficiency
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked recessive 4
Deafness, X-linked 5
Severe X-linked mitochondrial encephalomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA10515523

rs_201711375

7 SubmittersRCV000514093 RCV000623865 RCV000699009 RCV000766070 RCV006458448

NM_002109.6(HARS1):c.464T>G (p.Val155Gly)

SNV
Germline

Chr5:140679060

Conflicting classifications of pathogenicity

Autosomal dominant Charcot-Marie-Tooth disease type 2W
Usher syndrome type 3B
not specified

Criteria Provided
Conflicting Classifications

CA361257029

rs_1239341211

5 SubmittersRCV000515539 RCV001214564 RCV004023492

NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)

SNV
Germline

Chr1:11992671

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA338462271

rs_1553141706

4 SubmittersRCV000518242 RCV001360038 RCV000790050

NM_170707.4(LMNA):c.122G>T (p.Arg41Leu)

SNV
Germline

Chr1:156115040

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342807753

rs_1060502215

2 SubmittersRCV000518408 RCV000653844

NM_000530.8(MPZ):c.646-7C>G

SNV
Germline

Chr1:161305984

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658656971

rs_377495735

3 SubmittersRCV000531660 RCV001537849

NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)

SNV
Germline

Chr1:161306738

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA1210178

rs_572010627

6 SubmittersRCV000518262 RCV000703449 RCV000789485 RCV001002532

NM_000530.8(MPZ):c.385G>A (p.Val129Ile)

SNV
Germline

Chr1:161306771

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA31668684

rs_201156403

5 SubmittersRCV000518403 RCV000638162 RCV002358399

NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)

SNV
Germline

Chr1:161307299

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343350622

rs_1553259760

4 SubmittersRCV000790082 RCV006277864 RCV002525053

NM_000530.8(MPZ):c.104A>G (p.Asp35Gly)

SNV
Germline

Chr1:161307388

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Conflicting Classifications

CA343351528

rs_1553259811

3 SubmittersRCV000517150 RCV001212136 RCV005624412

NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)

SNV
Germline

Chr5:149007045

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
SH3TC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3498696

rs_759785462

12 SubmittersRCV000517446 RCV000790335 RCV000754746 RCV000805465 RCV003483649

NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met)

SNV
Germline

Chr5:149010284

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498781

rs_750746661

3 SubmittersRCV000517952 RCV002060260 RCV003159662

NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)

SNV
Germline

Chr5:149026920

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Inborn genetic diseases
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
not specified

Criteria Provided
Conflicting Classifications

CA3498930

rs_144688852

10 SubmittersRCV000654132 RCV000657143 RCV001157282 RCV001157281 RCV001173821 RCV002438249 RCV002490890 RCV005407673

NM_024577.4(SH3TC2):c.1326G>A (p.Pro442=)

SNV
Germline

Chr5:149028406

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499196

rs_138967360

3 SubmittersRCV000517752 RCV000820995 RCV002383997

NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His)

SNV
Germline

Chr5:149028413

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499200

rs_755748579

3 SubmittersRCV000516825 RCV000798572 RCV002383996

NM_014845.6(FIG4):c.2376+9G>A

SNV
Germline

Chr6:109791580

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3956364

rs_374450869

2 SubmittersRCV000516521 RCV001487460

NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)

SNV
Germline

Chr6:109796772

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3956425

rs_745790694

9 SubmittersRCV000518350 RCV000789755 RCV000825523 RCV001197829 RCV001216587

NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser)

SNV
Germline

Chr7:30612220

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA367125541

rs_1554338264

2 SubmittersRCV000517313 RCV002231201

NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)

SNV
Germline

Chr7:30616035

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2D
not specified

Criteria Provided
Conflicting Classifications

CA4205908

rs_370057212

7 SubmittersRCV000653904 RCV000789778 RCV001591166 RCV003447142 RCV004023507

NM_001540.5(HSPB1):c.364+6C>G

SNV
Germline

Chr7:76303082

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4306314

rs_753061670

7 SubmittersRCV000518370 RCV000727252 RCV001051779 RCV001172559 RCV001162476 RCV002455992

NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)

SNV
Germline

Chr7:76304094

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA367766323

rs_1422978230

4 SubmittersRCV000516728 RCV000789962 RCV000820858

NM_006096.4(NDRG1):c.1101C>T (p.Ser367=)

SNV
Germline

Chr8:133238962

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA4886420

rs_201959970

7 SubmittersRCV000518210 RCV000526572 RCV001085980 RCV001162006 RCV001173035

NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)

SNV
Germline

Chr8:24955723

Conflicting classifications of pathogenicity

not specified
Hereditary motor neuron disease
Charcot-Marie-Tooth disease type 2E
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease, dominant intermediate G

Criteria Provided
Conflicting Classifications

CA370621618

rs_1554497573

6 SubmittersRCV000516482 RCV001027486 RCV000809657 RCV001584230 RCV002420299 RCV002490884

NM_000399.5(EGR2):c.108G>A (p.Val36=)

SNV
Germline

Chr10:62815922

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA5517338

rs_746579337

2 SubmittersRCV000517146 RCV000925286

NM_030962.4(SBF2):c.504A>T (p.Gly168=)

SNV
Germline

Chr11:10029774

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5882111

rs_781537575

3 SubmittersRCV000517031 RCV001851456

NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala)

SNV
Germline

Chr11:68935335

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153736

rs_7122089

6 SubmittersRCV000517070 RCV000766761 RCV001088877 RCV001112397 RCV002404328

NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=)

SNV
Germline

Chr11:68936325

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153794

rs_370850999

5 SubmittersRCV000518138 RCV000876373 RCV001113751 RCV001568852 RCV002413398

NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu)

SNV
Germline

Chr11:9845619

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
SBF2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5881388

rs_201964421

5 SubmittersRCV000516551 RCV001474077 RCV002448559 RCV003942700 RCV005056110

NM_030962.4(SBF2):c.1273A>C (p.Arg425=)

SNV
Germline

Chr11:9992438

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA473075207

rs_1554976504

2 SubmittersRCV000516368 RCV003583165

NM_030962.4(SBF2):c.1164C>T (p.His388=)

SNV
Germline

Chr11:9992993

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA217649963

rs_959559753

3 SubmittersRCV000517934 RCV000654225 RCV002323881

NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)

SNV
Germline

Chr12:109808332

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Charcot-Marie-Tooth disease
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780524

rs_146304351

8 SubmittersRCV000684901 RCV000994976 RCV001114214 RCV001114216 RCV001173247 RCV001112861 RCV001114213 RCV001114215 RCV002341214

NM_001370298.3(FGD4):c.1971C>A (p.Ile657=)

SNV
Germline

Chr12:32624993

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA479169165

rs_61748364

3 SubmittersRCV000516249 RCV002404327 RCV005091181

NM_001376.5(DYNC1H1):c.407G>A (p.Arg136Gln)

SNV
Germline

Chr14:101979381

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391007450

rs_996476189

3 SubmittersRCV000516391 RCV001565301 RCV001857900

NM_022489.4(INF2):c.3080C>T (p.Thr1027Met)

SNV
Germline

Chr14:104714242

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373176

rs_760488958

3 SubmittersRCV000518037 RCV002319517 RCV003766926

NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)

SNV
Germline

Chr15:44629361

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535442

rs_763060505

4 SubmittersRCV000517770 RCV001851462 RCV002467849 RCV002467850 RCV005054210

NM_000304.4(PMP22):c.431C>G (p.Pro144Arg)

SNV
Germline

Chr17:15230969

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA398739549

rs_1555564032

2 SubmittersRCV000516704 RCV005411469

NM_000304.4(PMP22):c.418T>C (p.Trp140Arg)

SNV
Germline

Chr17:15230982

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA398739582

rs_1555564040

3 SubmittersRCV000518626 RCV000658337 RCV001851451

NM_000304.4(PMP22):c.228C>G (p.Ser76Arg)

SNV
Germline

Chr17:15239562

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA398268148

rs_1555565283

2 SubmittersRCV000517250 RCV006463214

NM_001005361.3(DNM2):c.850-7C>G

SNV
Germline

Chr19:10786557

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA305276328

rs_778548382

2 SubmittersRCV000517799 RCV000702929

NM_181882.3(PRX):c.499C>T (p.Arg167Cys)

SNV
Germline

Chr19:40397853

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444442

rs_10425452

3 SubmittersRCV000516201 RCV001081573 RCV002341212

NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)

SNV
Germline

ChrX:71223771

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA413500696

rs_1555937020

10 SubmittersRCV000516443 RCV000763633 RCV000796941 RCV000789221 RCV002367716

NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)

SNV
Germline

ChrX:71223882

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA413501278

rs_1555937077

3 SubmittersRCV000516335 RCV000654839 RCV000789852

NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)

SNV
Germline

ChrX:71223973

Pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413501709

rs_1555937122

3 SubmittersRCV000516283 RCV000552811 RCV000789233

NM_000166.6(GJB1):c.478T>C (p.Tyr160His)

SNV
Germline

ChrX:71224185

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413502688

rs_1555937197

4 SubmittersRCV000516785 RCV000544254 RCV000789189

NM_000166.6(GJB1):c.548G>A (p.Arg183His)

SNV
Germline

ChrX:71224255

Pathogenic

Condition: not provided
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA413503111

rs_1555937233

7 SubmittersRCV000517827 RCV000654852 RCV000789837 RCV002248750 RCV002350137

NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)

SNV
Germline

ChrX:71224329

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA413503325

rs_1555937270

6 SubmittersRCV000518825 RCV000789848 RCV000805747 RCV002367715

NM_014874.4(MFN2):c.818T>G (p.Val273Gly)

SNV
Germline

Chr1:12001402

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA338441387

rs_1458700065

4 SubmittersRCV000519202 RCV000689677 RCV000789395 RCV003483651

NM_170707.4(LMNA):c.1190G>A (p.Arg397His)

SNV
Germline

Chr1:156136246

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA049391

rs_747952058

7 SubmittersRCV000523012 RCV000695647 RCV002341216 RCV003532151 RCV004003591 RCV005044772

NM_170707.4(LMNA):c.1698+1G>C

SNV
Germline

Chr1:156137744

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
LMNA-related disorder
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342825921

rs_1553266337

7 SubmittersRCV000519351 RCV001524187 RCV003581682 RCV004527626 RCV004992297 RCV004806384

NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)

SNV
Germline

Chr1:161306756

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA343348678

rs_1553259647

5 SubmittersRCV000519245 RCV000789467 RCV002289708 RCV002525120

NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)

SNV
Germline

Chr1:161306824

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA343349293

rs_1553259663

3 SubmittersRCV000523011 RCV000704378 RCV000790095

NM_007289.4(MME):c.1781-2A>G

SNV
Germline

Chr3:155168490

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA2675637

rs_765231758

5 SubmittersRCV000520604 RCV002290970

NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser)

SNV
Germline

Chr5:149012661

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498845

rs_200819602

5 SubmittersRCV000520904 RCV000536439 RCV001173166 RCV002323889

NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu)

SNV
Germline

Chr5:149028407

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Hereditary motor neuron disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499197

rs_370613184

5 SubmittersRCV000523748 RCV000654135 RCV001027477 RCV002384018

NM_024577.4(SH3TC2):c.814C>T (p.Arg272Cys)

SNV
Germline

Chr5:149038482

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3499373

rs_146143252

2 SubmittersRCV000523668 RCV000795540

NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)

SNV
Germline

Chr5:149040615

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499391

rs_149873249

5 SubmittersRCV000520448 RCV000654163 RCV001332529 RCV002420317

NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter)

SNV
Germline

Chr5:149042727

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA361675539

rs_1554122847

2 SubmittersRCV000521295 RCV000804704

NM_002047.4(GARS1):c.1828G>A (p.Val610Ile)

SNV
Germline

Chr7:30631466

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4206098

rs_201432170

3 SubmittersRCV000521333 RCV001430883 RCV004023572

NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)

SNV
Germline

Chr8:74364219

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA371550563

rs_1323153568

6 SubmittersRCV000519479 RCV000789782 RCV001383587 RCV003447143

NM_001005373.4(LRSAM1):c.414G>A (p.Lys138=)

SNV
Germline

Chr9:127462259

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246549

rs_151323851

3 SubmittersRCV000521464 RCV001079039 RCV002329230

NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)

SNV
Germline

Chr9:92112500

Conflicting classifications of pathogenicity

Hereditary sensory and autonomic neuropathy type 1
Charcot-Marie-Tooth disease
Neuropathy, hereditary sensory and autonomic, type 1A
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5121677

rs_142153571

8 SubmittersRCV000871430 RCV001174074 RCV001249820 RCV001722441 RCV002358410 RCV006452708

NM_000399.5(EGR2):c.832G>A (p.Ala278Thr)

SNV
Germline

Chr10:62813806

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA5517216

rs_565355765

3 SubmittersRCV000761723 RCV001040079

NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val)

SNV
Germline

Chr11:68936246

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Neuronopathy, distal hereditary motor, type 2C
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA6153773

rs_764900781

4 SubmittersRCV000520882 RCV000642626 RCV005407677 RCV005901176

NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg)

SNV
Germline

Chr12:109814739

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780626

rs_764970185

5 SubmittersRCV000520547 RCV000789590 RCV002358407 RCV001851487 RCV005000096

NM_001376.5(DYNC1H1):c.2393G>A (p.Arg798Gln)

SNV
Germline

Chr14:101986618

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351813

rs_768932305

3 SubmittersRCV000521608 RCV001215209 RCV002456015

NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser)

SNV
Germline

Chr14:101994794

Pathogenic

Inborn genetic diseases
Condition: not provided
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Spinal muscular atrophy with lower extremity predominance
DYNC1H1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA391033272

rs_1555408829

4 SubmittersRCV000624185 RCV000523856 RCV001824815 RCV003900090

NM_001376.5(DYNC1H1):c.10084G>A (p.Ala3362Thr)

SNV
Germline

Chr14:102033069

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA266969128

rs_113879661

3 SubmittersRCV000519480 RCV001853636

NM_022489.4(INF2):c.3356A>C (p.Asn1119Thr)

SNV
Germline

Chr14:104714518

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373231

rs_200246759

6 SubmittersRCV000523280 RCV001857976 RCV004984943 RCV006268829

NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)

SNV
Germline

Chr19:10823858

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Centronuclear myopathy
Autosomal dominant centronuclear myopathy

Reviewed By Expert Panel

CA404041079

rs_773598203

7 SubmittersRCV000520544 RCV001384482 RCV004732482 RCV004787830

NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)

SNV
Germline

ChrX:71224130

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413502347

rs_1555937180

4 SubmittersRCV000519658 RCV000789935 RCV003993995

NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)

SNV
Germline

Chr1:10276376

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuroblastoma
KIF1B-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA580866

rs_150411706

5 SubmittersRCV000560282 RCV001099772 RCV003980040 RCV004024390 RCV005865347

NM_001365951.3(KIF1B):c.1364C>T (p.Thr455Met)

SNV
Germline

Chr1:10282463

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA580946

rs_201474903

3 SubmittersRCV000534091 RCV004024377 RCV005398866

NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)

SNV
Germline

Chr1:10295089

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A1
Condition: not provided
not specified
KIF1B-related disorder

Criteria Provided
Conflicting Classifications

CA581032

rs_201500946

7 SubmittersRCV000527411 RCV001173593 RCV003485606 RCV003133359 RCV004024379 RCV004742497

NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu)

SNV
Germline

Chr1:10374971

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA582290

rs_774464311

3 SubmittersRCV000558923 RCV004024388 RCV005010525

NM_014874.4(MFN2):c.285G>C (p.Arg95Ser)

SNV
Germline

Chr1:11992664

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338462189

rs_1553141686

1 SubmittersRCV000543497

NM_014874.4(MFN2):c.326A>G (p.Lys109Arg)

SNV
Germline

Chr1:11996170

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338433959

rs_1553142436

2 SubmittersRCV000557390 RCV004797614

NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp)

SNV
Germline

Chr1:12011513

Pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338453887

rs_1553146559

3 SubmittersRCV000530896 RCV001027507 RCV006436839

NM_170707.4(LMNA):c.1608+10C>T

SNV
Germline

Chr1:156137242

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
11 conditions

Criteria Provided
Conflicting Classifications

CA050747

rs_748917147

2 SubmittersRCV000529134 RCV002483494

NM_014874.4(MFN2):c.318C>G (p.Ser106Arg)

SNV
Germline

Chr1:11996162

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338433854

rs_778937659

1 SubmittersRCV000544862

NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)

SNV
Germline

Chr1:156115012

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA342807424

rs_1553261891

2 SubmittersRCV000529491 RCV000785916

NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr1:156134481

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342816989

rs_1553265165

1 SubmittersRCV000549843

NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)

SNV
Germline

Chr1:156137182

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823343

rs_267607557

1 SubmittersRCV000540642

NM_170707.4(LMNA):c.870G>A (p.Glu290=)

SNV
Germline

Chr1:156135246

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054576

rs_747275587

6 SubmittersRCV000553950 RCV000597468 RCV001191882 RCV002448795 RCV003999471

NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)

SNV
Germline

Chr1:161306759

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA343348701

rs_1553259648

2 SubmittersRCV000525895 RCV000763261

NM_000530.8(MPZ):c.68-5T>G

SNV
Germline

Chr1:161307429

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658656973

rs_1553259835

4 SubmittersRCV000532074 RCV002367833 RCV005000159

NM_170707.4(LMNA):c.877C>T (p.Gln293Ter)

SNV
Germline

Chr1:156135253

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342817717

rs_1553265455

2 SubmittersRCV000532201 RCV005589861

NM_170707.4(LMNA):c.897C>T (p.Ile299=)

SNV
Germline

Chr1:156135273

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054647

rs_762718963

5 SubmittersRCV000542339 RCV000617823 RCV001185071 RCV003999472

NM_170707.4(LMNA):c.936+1G>A

SNV
Germline

Chr1:156135313

Pathogenic

Charcot-Marie-Tooth disease type 2
Papillary renal cell carcinoma type 1

Criteria Provided
Single Submitter

CA342818117

rs_267607588

2 SubmittersRCV000552554 RCV005898453

NM_000530.8(MPZ):c.394C>G (p.Pro132Ala)

SNV
Germline

Chr1:161306762

Pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343348732

rs_1553259649

2 SubmittersRCV000554187 RCV003233703

NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr1:161306900

Pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA343349897

rs_1553259703

2 SubmittersRCV000535579 RCV000789717

NM_000530.8(MPZ):c.335T>C (p.Ile112Thr)

SNV
Germline

Chr1:161306821

Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA343349284

rs_1553259662

2 SubmittersRCV000525582 RCV000789483

NM_000530.8(MPZ):c.331T>C (p.Ser111Pro)

SNV
Germline

Chr1:161306825

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343349296

rs_1553259664

3 SubmittersRCV000549580 RCV005632461

NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)

SNV
Germline

Chr1:161307389

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2I
Condition: not provided
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Conflicting Classifications

CA343351540

rs_121913596

6 SubmittersRCV000558954 RCV000790058 RCV000995582 RCV001093015 RCV005252955

NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)

SNV
Germline

Chr1:32780128

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate C
YARS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA744933

rs_149620809

6 SubmittersRCV000597583 RCV001079016 RCV003915550 RCV002461300

NM_003680.4(YARS1):c.483G>C (p.Leu161=)

SNV
Germline

Chr1:32806509

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA745197

rs_780528629

3 SubmittersRCV000756939 RCV001088959 RCV002461302

NM_003680.4(YARS1):c.795G>C (p.Lys265Asn)

SNV
Germline

Chr1:32786965

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA745111

rs_141482636

4 SubmittersRCV000556540 RCV001597164 RCV002461303 RCV006268850

NM_020631.6(PLEKHG5):c.1707C>T (p.Asp569=)

SNV
Germline

Chr1:6470329

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA17236355

rs_1033319065

3 SubmittersRCV000540248 RCV002404487 RCV006277893

NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=)

SNV
Germline

Chr1:6468226

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561121

rs_373880458

3 SubmittersRCV000597423 RCV001405453 RCV002431642

NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val)

SNV
Germline

Chr1:6472588

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
PLEKHG5-related disorder

Criteria Provided
Conflicting Classifications

CA561673

rs_72861528

3 SubmittersRCV000532836 RCV001546653 RCV003960345

NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu)

SNV
Germline

Chr1:6474095

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
PLEKHG5-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561829

rs_59117380

4 SubmittersRCV000555958 RCV001568993 RCV003962537 RCV005702236

NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)

SNV
Germline

Chr3:38847003

Conflicting classifications of pathogenicity

Hereditary sensory and autonomic neuropathy type 7
Familial episodic pain syndrome with predominantly lower limb involvement
Charcot-Marie-Tooth disease
Hereditary motor neuron disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2321407

rs_201107889

5 SubmittersRCV000551668 RCV000790198 RCV001027472 RCV001509212 RCV002341453

NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val)

SNV
Germline

Chr4:153334847

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2R
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3108932

rs_201921014

4 SubmittersRCV000546134 RCV001584333 RCV004024290

NM_015271.5(TRIM2):c.1077C>T (p.Gly359=)

SNV
Germline

Chr4:153295603

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2R
Colon adenocarcinoma
Gastric cancer

Criteria Provided
Conflicting Classifications

CA3108682

rs_116558260

5 SubmittersRCV000756804 RCV001088414 RCV005897048 RCV005897049

NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)

SNV
Germline

Chr5:149027204

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361666180

rs_1463859150

5 SubmittersRCV000546073 RCV000765820 RCV001173153 RCV004701650 RCV004592604

NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)

SNV
Germline

Chr5:149010304

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498791

rs_199514987

4 SubmittersRCV000524934 RCV000762172 RCV002325096

NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)

SNV
Germline

Chr5:149026591

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498872

rs_541197556

4 SubmittersRCV000547987 RCV001157279 RCV001157280 RCV003488695 RCV005732125

NM_024577.4(SH3TC2):c.1522G>A (p.Val508Met)

SNV
Germline

Chr5:149028210

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499161

rs_148155691

4 SubmittersRCV000558549 RCV001770487 RCV002395483

NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)

SNV
Germline

Chr5:149027150

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3498964

rs_142971473

10 SubmittersRCV000534509 RCV000998462 RCV001173819 RCV003387882 RCV002431715 RCV005398867

NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)

SNV
Germline

Chr5:149028301

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA128988408

rs_887057321

4 SubmittersRCV000557796 RCV001155783 RCV001155784 RCV002395481 RCV002473060

NM_024577.4(SH3TC2):c.1002-7G>A

SNV
Germline

Chr5:149031694

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499311

rs_752528409

4 SubmittersRCV000530936 RCV001152025 RCV001152024 RCV001591302

NM_024577.4(SH3TC2):c.279+1G>A

SNV
Germline

Chr5:149047861

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361678399

rs_1198337036

1 SubmittersRCV000549436

NM_024577.4(SH3TC2):c.2254G>A (p.Asp752Asn)

SNV
Germline

Chr5:149027478

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499038

rs_749008572

2 SubmittersRCV000541890 RCV002448797

NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)

SNV
Germline

Chr5:149028554

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3499240

rs_148321018

5 SubmittersRCV000555948 RCV002330973 RCV003226947 RCV004543243

NM_014845.6(FIG4):c.2154A>G (p.Pro718=)

SNV
Germline

Chr6:109789651

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3956300

rs_201138266

4 SubmittersRCV000534342 RCV001173285 RCV001088800 RCV004742499

NM_002047.4(GARS1):c.875T>G (p.Met292Arg)

SNV
Germline

Chr7:30609724

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA367124717

rs_1064795123

1 SubmittersRCV000558281

NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)

SNV
Germline

Chr7:30612214

Pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Distal spinal muscular atrophy
Condition: not provided
Charcot-Marie-Tooth disease type 2D
Neuronopathy, distal hereditary motor, type 5A
Neuronopathy, distal hereditary motor, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA367125514

rs_1554338260

7 SubmittersRCV000529259 RCV000789773 RCV000790255 RCV000992024 RCV001542256 RCV001770486 RCV003447145

NM_001540.5(HSPB1):c.372C>G (p.His124Gln)

SNV
Germline

Chr7:76303809

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4306366

rs_145243219

8 SubmittersRCV000558321 RCV000711974 RCV001172546 RCV002350273

NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)

SNV
Germline

Chr7:76304087

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Single Submitter

CA367766252

rs_150110356

1 SubmittersRCV000535288

NM_006158.5(NEFL):c.796G>A (p.Glu266Lys)

SNV
Germline

Chr8:24955720

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA370621613

rs_1411999109

3 SubmittersRCV000559005 RCV001755833 RCV004023992

NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)

SNV
Germline

Chr7:30609643

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA367124351

rs_1554337974

5 SubmittersRCV000533118 RCV000734019 RCV000789776 RCV003447146

NM_018972.4(GDAP1):c.459G>A (p.Pro153=)

SNV
Germline

Chr8:74360285

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4785104

rs_149804782

5 SubmittersRCV000534935 RCV001173314 RCV002341360 RCV005641681 RCV005239181

NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr)

SNV
Germline

Chr8:74364044

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
not specified

Criteria Provided
Conflicting Classifications

CA4785196

rs_778105019

2 SubmittersRCV000526351 RCV004701628

NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)

SNV
Germline

Chr8:74364101

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Conflicting Classifications

CA4785202

rs_775622226

6 SubmittersRCV000530141 RCV000789643 RCV002269286 RCV003447144

NM_001005373.4(LRSAM1):c.1348-1G>A

SNV
Germline

Chr9:127489443

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA5246953

rs_747659617

1 SubmittersRCV000551707

NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)

SNV
Germline

Chr9:127502838

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5247265

rs_140808447

7 SubmittersRCV000546059 RCV001507755 RCV002420508 RCV006268860

NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg)

SNV
Germline

Chr8:74350494

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4785000

rs_202010117

4 SubmittersRCV001081630 RCV000658365 RCV006264052

NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)

SNV
Germline

Chr8:74364255

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease recessive intermediate A
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4785221

rs_199529910

8 SubmittersRCV000529356 RCV001162809 RCV001173317 RCV001162808 RCV001553001 RCV002384162 RCV005000176

NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr8:74363993

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371549833

rs_1554548334

1 SubmittersRCV000542442

NM_001005373.4(LRSAM1):c.1043+5G>A

SNV
Germline

Chr9:127479983

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5246794

rs_780868977

2 SubmittersRCV000558632 RCV003431101

NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys)

SNV
Germline

Chr9:127495982

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5247113

rs_150882646

3 SubmittersRCV000553550 RCV001672845 RCV005407732

NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)

SNV
Germline

Chr8:74363012

Likely pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA179735330

rs_556827873

1 SubmittersRCV000527122

NM_018706.7(DHTKD1):c.1897-1G>A

SNV
Germline

Chr10:12106245

Pathogenic/Likely pathogenic

2-aminoadipic 2-oxoadipic aciduria
Charcot-Marie-Tooth disease axonal type 2Q
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5408069

rs_760386662

5 SubmittersRCV000535744 RCV001335923 RCV005630257

NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)

SNV
Germline

Chr10:62814181

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1D
Condition: not provided
Inborn genetic diseases
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 1D

Criteria Provided
Conflicting Classifications

CA5517273

rs_202183386

6 SubmittersRCV000540413 RCV001108766 RCV001356784 RCV002341304 RCV006605283

NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg)

SNV
Germline

Chr11:68933340

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381648752

rs_1555247218

2 SubmittersRCV000557849 RCV005250073

NM_030962.4(SBF2):c.3888G>A (p.Ser1296=)

SNV
Germline

Chr11:9816930

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Conflicting Classifications

CA5881111

rs_375669985

3 SubmittersRCV000534850 RCV002358615 RCV003485608

NM_021625.5(TRPV4):c.646A>G (p.Ile216Val)

SNV
Germline

Chr12:109803057

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA386656102

rs_1318320106

2 SubmittersRCV000547655 RCV002367886

NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)

SNV
Germline

Chr11:68929186

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases
IGHMBP2-related disorder

Criteria Provided
Conflicting Classifications

CA6153513

rs_142062146

9 SubmittersRCV000727033 RCV001109641 RCV001087969 RCV001174193 RCV002413540 RCV004553226

NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys)

SNV
Germline

Chr11:95923939

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4B1
Inborn genetic diseases
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA6240497

rs_377006678

6 SubmittersRCV000535242 RCV000992370 RCV001110931 RCV002413638 RCV001172717

NM_030962.4(SBF2):c.4515G>A (p.Val1505=)

SNV
Germline

Chr11:9795886

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Conflicting Classifications

CA5880964

rs_144935862

2 SubmittersRCV000550535 RCV003139860

NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)

SNV
Germline

Chr11:68908192

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
IGHMBP2-related disorder

Criteria Provided
Conflicting Classifications

CA6153255

rs_35610053

7 SubmittersRCV000712267 RCV001084898 RCV002448709 RCV004553227

NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)

SNV
Germline

Chr11:68934477

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153700

rs_150549628

6 SubmittersRCV000529802 RCV001112396 RCV001722485 RCV001173580 RCV002395397

NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)

SNV
Germline

Chr11:62702493

Pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17
Berardinelli-Seip congenital lipodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA380968385

rs_137852973

6 SubmittersRCV000536990 RCV000789082 RCV001270682 RCV002284966 RCV003311850

NM_030962.4(SBF2):c.4699-9C>A

SNV
Germline

Chr11:9789351

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5880908

rs_376668219

2 SubmittersRCV000732936 RCV001482692

NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)

SNV
Germline

Chr12:109798808

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease type 4
Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6780379

rs_142902080

10 SubmittersRCV000551761 RCV000856931 RCV001109833 RCV001109834 RCV001109836 RCV001173240 RCV001109835 RCV001109837 RCV001508337 RCV002384176 RCV005418209

NM_014365.3(HSPB8):c.266C>A (p.Pro89Gln)

SNV
Germline

Chr12:119179578

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2L
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6819539

rs_35909818

2 SubmittersRCV000538374 RCV003278890

NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu)

SNV
Germline

Chr11:68914902

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA6153397

rs_777575504

3 SubmittersRCV000541500 RCV001783051 RCV005431748

NM_002180.3(IGHMBP2):c.1756+4C>T

SNV
Germline

Chr11:68935426

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153754

rs_778913429

4 SubmittersRCV000548573 RCV000611337 RCV001509412 RCV002413541

NM_016156.6(MTMR2):c.1900C>T (p.Gln634Ter)

SNV
Germline

Chr11:95835322

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Conflicting Classifications

CA226590942

rs_923973985

3 SubmittersRCV000533890 RCV002413640 RCV005010526

NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe)

SNV
Germline

Chr12:109814660

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Condition: not provided
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780616

rs_202066574

5 SubmittersRCV000550504 RCV001172897 RCV001755851 RCV002227939 RCV002384175

NM_014365.3(HSPB8):c.432-10T>A

SNV
Germline

Chr12:119193689

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2L
Condition: not provided
Neuronopathy, distal hereditary motor, type 2A
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA6819605

rs_368810689

5 SubmittersRCV000526841 RCV001584271 RCV001111398 RCV005896767

NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)

SNV
Germline

Chr12:57514805

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
not specified

Criteria Provided
Conflicting Classifications

CA237772045

rs_558631075

3 SubmittersRCV000526373 RCV001002141

NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr)

SNV
Germline

Chr14:102005096

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352391

rs_144147463

3 SubmittersRCV000533146 RCV001507855 RCV006342369

NM_022489.4(INF2):c.397G>A (p.Asp133Asn)

SNV
Germline

Chr14:104703110

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372293

rs_774135330

4 SubmittersRCV000525236 RCV001508742

NM_022489.4(INF2):c.733C>G (p.Leu245Val)

SNV
Germline

Chr14:104706066

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372412

rs_765986755

4 SubmittersRCV000546565 RCV002384232 RCV006277899

NM_022489.4(INF2):c.2672G>A (p.Arg891Gln)

SNV
Germline

Chr14:104712889

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373036

rs_777498088

2 SubmittersRCV000530184

NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser)

SNV
Germline

Chr14:104715292

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373370

rs_201091360

2 SubmittersRCV000535958 RCV001112661

NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)

SNV
Germline

Chr12:57514970

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6650715

rs_148501787

6 SubmittersRCV000536467 RCV001173432 RCV004691904 RCV004024320

NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu)

SNV
Germline

Chr14:102001671

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O
Progressive muscle weakness
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Criteria Provided
Multiple Submitters
No Conflicts

CA391042819

rs_1327664377

3 SubmittersRCV000549631 RCV001004062 RCV006605285

NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)

SNV
Germline

Chr14:102005051

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352386

rs_199740595

5 SubmittersRCV000552623 RCV001568025 RCV002341430

NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala)

SNV
Germline

Chr14:102016051

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266952229

rs_1018948570

3 SubmittersRCV000536290 RCV002227482 RCV004619337

NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu)

SNV
Germline

Chr14:102044458

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391044241

rs_1555412242

3 SubmittersRCV000555198 RCV002245008 RCV002384226

NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile)

SNV
Germline

Chr14:102001295

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352212

rs_367614843

2 SubmittersRCV000537990 RCV005821724

NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)

SNV
Germline

Chr14:104701513

Pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391225100

rs_1555373261

1 SubmittersRCV000534855

NM_022489.4(INF2):c.218G>T (p.Gly73Val)

SNV
Germline

Chr14:104701583

Pathogenic/Likely pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA267330465

rs_918089359

2 SubmittersRCV000542048 RCV004721436

NM_022489.4(INF2):c.314T>A (p.Val105Glu)

SNV
Germline

Chr14:104701679

Pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391225858

rs_1555373363

1 SubmittersRCV001378572

NM_022489.4(INF2):c.3224G>A (p.Arg1075His)

SNV
Germline

Chr14:104714386

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373207

rs_370169829

2 SubmittersRCV000526867 RCV002448771

NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)

SNV
Germline

Chr14:104714295

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Nephrotic syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373186

rs_780428043

4 SubmittersRCV000549964 RCV001328082 RCV002324037

NM_025137.4(SPG11):c.4161+9C>G

SNV
Germline

Chr15:44596775

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA658658292

rs_1555451101

3 SubmittersRCV000544562 RCV001848945 RCV002467867 RCV002467866

NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)

SNV
Germline

Chr15:44584365

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534430

rs_150823040

8 SubmittersRCV000541207 RCV001848946 RCV002509426 RCV002467875 RCV002467874 RCV003372748

NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn)

SNV
Germline

Chr15:44596256

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534720

rs_191148548

6 SubmittersRCV000556968 RCV002263778 RCV002330887 RCV002467868 RCV002467869 RCV004796233

NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)

SNV
Germline

Chr15:44595303

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA392226101

rs_1362530862

2 SubmittersRCV000549837 RCV005010510

NM_001136472.2(LITAF):c.226G>A (p.Val76Met)

SNV
Germline

Chr16:11553684

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7904106

rs_371334679

4 SubmittersRCV000534683 RCV000585148 RCV002448685 RCV005418203

NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe)

SNV
Germline

Chr16:70268341

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Developmental and epileptic encephalopathy, 29

Criteria Provided
Conflicting Classifications

CA8140955

rs_527414180

3 SubmittersRCV000559648 RCV002461354 RCV003448322

NM_001605.3(AARS1):c.63C>T (p.Asn21=)

SNV
Germline

Chr16:70282701

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141238

rs_773045737

3 SubmittersRCV001118521 RCV002232640 RCV002461362

NM_000304.4(PMP22):c.103G>A (p.Ala35Thr)

SNV
Germline

Chr17:15259169

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA8403425

rs_750000952

3 SubmittersRCV000544121 RCV001770427 RCV005628257

NM_181882.3(PRX):c.3708G>A (p.Ala1236=)

SNV
Germline

Chr19:40394644

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443803

rs_202119177

6 SubmittersRCV000531906 RCV000615828 RCV001135978 RCV001173093 RCV001811071 RCV002358617

NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp)

SNV
Germline

Chr19:10823859

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA404041082

rs_1555715869

3 SubmittersRCV000534336 RCV001729629

NM_001005361.3(DNM2):c.2452G>A (p.Val818Met)

SNV
Germline

Chr19:10830287

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201623

rs_755608537

5 SubmittersRCV000526630 RCV002261106 RCV004024002

NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)

SNV
Germline

Chr19:10829208

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201548

rs_777609224

3 SubmittersRCV000547445 RCV000834573

NM_181882.3(PRX):c.1026A>C (p.Ala342=)

SNV
Germline

Chr19:40397326

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444337

rs_150772010

3 SubmittersRCV000538244 RCV001129237 RCV002384260

NM_181882.3(PRX):c.719G>A (p.Arg240Gln)

SNV
Germline

Chr19:40397633

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA9444391

rs_77917609

5 SubmittersRCV000554182 RCV001131934 RCV001546675 RCV002377182 RCV005000218

NM_181882.3(PRX):c.2036G>A (p.Arg679Gln)

SNV
Germline

Chr19:40396316

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444135

rs_145856805

3 SubmittersRCV000537479 RCV004955662 RCV006277912

NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)

SNV
Germline

Chr19:40396983

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Condition: not provided
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9444276

rs_142064826

5 SubmittersRCV000539162 RCV001136190 RCV001565702 RCV002384261 RCV003915651

NM_030973.4(MED25):c.1677G>C (p.Met559Ile)

SNV
Germline

Chr19:49835536

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA9585344

rs_369006637

5 SubmittersRCV000539627 RCV001174294 RCV004691914 RCV006450239

NM_181882.3(PRX):c.2605G>A (p.Gly869Arg)

SNV
Germline

Chr19:40395747

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA405895948

rs_1555800819

2 SubmittersRCV000550860 RCV002438494

NM_181882.3(PRX):c.2229C>T (p.Pro743=)

SNV
Germline

Chr19:40396123

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444107

rs_144975214

3 SubmittersRCV000547395 RCV001129130 RCV002431716

NM_181882.3(PRX):c.993G>A (p.Pro331=)

SNV
Germline

Chr19:40397359

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444344

rs_146323928

8 SubmittersRCV000558551 RCV001129238 RCV001173788 RCV001662607 RCV001584361 RCV002384262

NM_000166.6(GJB1):c.34G>A (p.Gly12Ser)

SNV
Germline

ChrX:71223741

Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413499462

rs_1555936999

3 SubmittersRCV000552022 RCV000789811 RCV005435028

NM_000166.6(GJB1):c.475G>A (p.Gly159Ser)

SNV
Germline

ChrX:71224182

Pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413502674

rs_1555937194

3 SubmittersRCV000529489 RCV000789250 RCV004787898

NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)

SNV
Germline

ChrX:71224222

Pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413502914

rs_1555937218

2 SubmittersRCV000559484 RCV000789937

NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu)

SNV
Germline

Chr22:30939977

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10187090

rs_199973357

3 SubmittersRCV000536375 RCV002377166 RCV006458604

NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)

SNV
Germline

Chr20:10641549

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764386

rs_760332763

4 SubmittersRCV000533650 RCV005641685 RCV002491063 RCV004024061

NM_000166.6(GJB1):c.565G>A (p.Val189Ile)

SNV
Germline

ChrX:71224272

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10445316

rs_770116247

6 SubmittersRCV000558127 RCV000789820 RCV002350395 RCV002483509 RCV005415576

NM_000166.6(GJB1):c.77C>G (p.Ser26Trp)

SNV
Germline

ChrX:71223784

Pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413500799

rs_587777876

2 SubmittersRCV000535675 RCV000789319

NM_021629.4(GNB4):c.229G>A (p.Gly77Arg)

SNV
Germline

Chr3:179416531

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate F

Criteria Provided
Multiple Submitters
No Conflicts

CA355470461

rs_1553851490

2 SubmittersRCV000578374

NM_014874.4(MFN2):c.1873-16A>T

SNV
Germline

Chr1:12007037

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA599260

rs_190961216

2 SubmittersRCV000578650 RCV002060546

NM_170707.4(LMNA):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:156114921

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
See cases
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA342805841

rs_794728598

4 SubmittersRCV000579197 RCV000653926 RCV001268969 RCV001594399

NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)

SNV
Germline

Chr1:6469238

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Multiple Submitters
No Conflicts

CA561265

rs_772217003

4 SubmittersRCV000579101 RCV000807298 RCV003155239

NM_024577.4(SH3TC2):c.2128C>T (p.Gln710Ter)

SNV
Germline

Chr5:149027604

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3499055

rs_753287764

3 SubmittersRCV000578528 RCV005091454 RCV005034149

NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)

SNV
Germline

Chr6:109741461

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Multiple Submitters
No Conflicts

CA3955913

rs_774294963

7 SubmittersRCV000579266 RCV001043299 RCV002420550 RCV003989563

NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)

SNV
Germline

Chr11:68936293

Pathogenic

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA223412991

rs_991227431

5 SubmittersRCV000578618 RCV000642633 RCV000790272 RCV000856975

NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)

SNV
Germline

Chr11:68936848

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6153896

rs_773242930

5 SubmittersRCV000578974 RCV000795152 RCV002456274

NM_018082.6(POLR3B):c.1263+2T>C

SNV
Germline

Chr12:106427360

Pathogenic/Likely pathogenic

Condition: not provided
Hypogonadotropic hypogonadism 7 with or without anosmia
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6761905

rs_774526181

7 SubmittersRCV000578741 RCV000763294 RCV001542054 RCV004698345 RCV005898550

NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)

SNV
Germline

Chr15:44651862

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA7535624

rs_140385286

8 SubmittersRCV000578726 RCV000642546 RCV000763352 RCV001848979 RCV002467902 RCV002467901

NM_000263.4(NAGLU):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:42536273

Pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399594810

rs_1325661354

2 SubmittersRCV000578605 RCV003767252

NM_001005361.3(DNM2):c.142C>T (p.Leu48=)

SNV
Germline

Chr19:10718384

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9200682

rs_753989925

3 SubmittersRCV000578531 RCV001496064 RCV002395501

NM_020631.6(PLEKHG5):c.985-2A>G

SNV
Germline

Chr1:6472624

Pathogenic/Likely pathogenic

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Multiple Submitters
No Conflicts

CA338133178

rs_1553174566

4 SubmittersRCV000585110 RCV002248805 RCV002530829 RCV002289881

NM_170707.4(LMNA):c.867C>T (p.His289=)

SNV
Germline

Chr1:156135243

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA054567

rs_780415585

6 SubmittersRCV000584877 RCV001178182 RCV001454538 RCV002448816 RCV004002385 RCV004530631

NM_018972.4(GDAP1):c.405C>T (p.Ala135=)

SNV
Germline

Chr8:74360231

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4785096

rs_763427538

3 SubmittersRCV000585163 RCV001442907 RCV002325118

NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)

SNV
Germline

Chr17:42543603

Pathogenic/Likely pathogenic

Sanfilippo syndrome
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA399604256

rs_1244655820

6 SubmittersRCV000589472 RCV000761492 RCV001238278 RCV001783091 RCV002530901

NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)

SNV
Germline

Chr13:23330261

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
not specified
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA387504864

rs_1555249106

4 SubmittersRCV000593641 RCV003465330 RCV004782459 RCV005625695

NM_170707.4(LMNA):c.1478A>C (p.Gln493Pro)

SNV
Germline

Chr1:156137018

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342822801

rs_1553266048

2 SubmittersRCV000594075 RCV001867919

NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys)

SNV
Germline

Chr14:102027712

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA391011198

rs_1555410941

8 SubmittersRCV000594304 RCV002532369 RCV005632511

NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=)

SNV
Germline

Chr11:68938213

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153974

rs_374950193

4 SubmittersRCV000595184 RCV001397063 RCV002431746

NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)

SNV
Germline

Chr17:42543493

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA8577035

rs_569519789

5 SubmittersRCV000592453 RCV000652882 RCV001829637

NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)

SNV
Germline

Chr20:10673512

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311357576

rs_563232654

5 SubmittersRCV000592427 RCV001039478 RCV002476291 RCV003160015

NM_001005361.3(DNM2):c.645C>T (p.Asp215=)

SNV
Germline

Chr19:10777173

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
DNM2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9200849

rs_148900299

6 SubmittersRCV000592533 RCV001078747 RCV003905527 RCV006452761

NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=)

SNV
Germline

Chr11:68933461

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153623

rs_147477786

4 SubmittersRCV000591965 RCV001447445 RCV002395524

NM_022489.4(INF2):c.1864C>G (p.Arg622Gly)

SNV
Germline

Chr14:104708564

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7372691

rs_539256832

4 SubmittersRCV000597249 RCV001086165 RCV002413674 RCV005240298

NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys)

SNV
Germline

Chr1:156136078

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342820494

rs_1553265733

3 SubmittersRCV000592581 RCV000696116

NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)

SNV
Germline

Chr12:109786742

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease
Connective tissue disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6779967

rs_138986228

11 SubmittersRCV000713881 RCV001087967 RCV001109154 RCV001114788 RCV001114789 RCV001114790 RCV001114791 RCV001173506 RCV002279378 RCV002448832 RCV006436849

NM_170707.4(LMNA):c.528A>T (p.Leu176=)

SNV
Germline

Chr1:156134417

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA31010889

rs_1026599240

5 SubmittersRCV000598349 RCV001178641 RCV001448884 RCV004002459 RCV005589865

NM_000530.8(MPZ):c.641G>A (p.Arg214Gln)

SNV
Germline

Chr1:161306112

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA1210098

rs_147718043

3 SubmittersRCV000591713 RCV001067919

NM_014874.4(MFN2):c.175+9G>A

SNV
Germline

Chr1:11989352

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA598753

rs_373340717

4 SubmittersRCV000595891 RCV000727070 RCV001087559

NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=)

SNV
Germline

Chr11:68939617

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA475205128

rs_752024072

3 SubmittersRCV000593798 RCV001495356 RCV002438539

NM_000214.3(JAG1):c.521C>T (p.Thr174Met)

SNV
Germline

Chr20:10658641

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9765115

rs_144999773

4 SubmittersRCV000658070 RCV000697734 RCV002491201

NM_002047.4(GARS1):c.1857C>T (p.Leu619=)

SNV
Germline

Chr7:30631495

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4206104

rs_183573304

3 SubmittersRCV000596609 RCV001088904 RCV004024778

NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)

SNV
Germline

Chr20:10639503

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764165

rs_150295026

6 SubmittersRCV000596800 RCV001854061 RCV002456305 RCV002491208 RCV004553327

NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)

SNV
Germline

Chr1:156137206

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342823494

rs_1187380696

2 SubmittersRCV000593248 RCV006612419

NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)

SNV
Germline

Chr20:10639809

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764218

rs_377723772

5 SubmittersRCV000598181 RCV000810621 RCV002325129 RCV004553329 RCV005034169

NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)

SNV
Germline

Chr20:10641234

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764340

rs_751809412

7 SubmittersRCV000591569 RCV001482684 RCV002438541 RCV005027711 RCV004740358

NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)

SNV
Germline

Chr1:10324771

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
not specified
KIF1B-related disorder

Criteria Provided
Conflicting Classifications

CA581554

rs_139572764

5 SubmittersRCV000592018 RCV001173604 RCV001393026 RCV004024810 RCV003935620

NM_000214.3(JAG1):c.1308C>T (p.Cys436=)

SNV
Germline

Chr20:10649562

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764919

rs_764485729

5 SubmittersRCV000592331 RCV001345958 RCV005027713 RCV004629251

NM_014845.6(FIG4):c.1583+3A>G

SNV
Germline

Chr6:109765164

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA145158732

rs_866431185

3 SubmittersRCV000598045 RCV003767403

NM_170707.4(LMNA):c.1047G>A (p.Arg349=)

SNV
Germline

Chr1:156136011

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA048860

rs_147015659

4 SubmittersRCV000594543 RCV001406347 RCV001524473 RCV002404613

NM_170707.4(LMNA):c.893G>C (p.Arg298Pro)

SNV
Germline

Chr1:156135269

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342817795

rs_762653476

2 SubmittersRCV000592791 RCV001205747

NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly)

SNV
Germline

Chr1:156136393

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342822060

rs_58541611

3 SubmittersRCV000593108 RCV001387373

NM_000214.3(JAG1):c.2305G>A (p.Val769Ile)

SNV
Germline

Chr20:10644902

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764559

rs_754301929

4 SubmittersRCV000591788 RCV002448839 RCV002532683 RCV005027717

NM_007289.4(MME):c.1342C>T (p.Arg448Ter)

SNV
Germline

Chr3:155144383

Pathogenic

Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
Spinocerebellar ataxia 43
Condition: not provided
MME-related disorder
Spinocerebellar ataxia 43
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA2675480

rs_149905705

8 SubmittersRCV000614012 RCV001196533 RCV001783108 RCV004751626 RCV005034189 RCV005252995

NM_020631.6(PLEKHG5):c.1131+19G>A

SNV
Germline

Chr1:6471739

Conflicting classifications of pathogenicity

not specified
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Conflicting Classifications

CA520765789

rs_746822140

2 SubmittersRCV000609694 RCV002528646

NM_002047.4(GARS1):c.-6A>G

SNV
Germline

Chr7:30594916

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205556

rs_747409671

2 SubmittersRCV000615282 RCV001327334

NM_002047.4(GARS1):c.271G>A (p.Val91Ile)

SNV
Germline

Chr7:30598844

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205636

rs_374616031

2 SubmittersRCV000605595 RCV005056320

NM_006096.4(NDRG1):c.944-13C>T

SNV
Germline

Chr8:133239132

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA4886457

rs_753312340

4 SubmittersRCV000615640 RCV001173721 RCV001164016 RCV002062885

NM_006096.4(NDRG1):c.1155C>T (p.Ala385=)

SNV
Germline

Chr8:133238908

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4886408

rs_774605205

4 SubmittersRCV000870007 RCV001162005 RCV001704780 RCV002358736

NM_030962.4(SBF2):c.403-15T>G

SNV
Germline

Chr11:10029890

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA217678420

rs_887143579

3 SubmittersRCV000600108 RCV001173989 RCV001868051

NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)

SNV
Germline

Chr11:62692429

Conflicting classifications of pathogenicity

not specified
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223631235

rs_998498207

5 SubmittersRCV000611592 RCV001104263 RCV001104262 RCV002358728 RCV002531626 RCV006436855

NM_002180.3(IGHMBP2):c.1236-6G>C

SNV
Germline

Chr11:68933293

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153583

rs_201538340

3 SubmittersRCV000601306 RCV001401020 RCV002377267

NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)

SNV
Germline

Chr11:68939593

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6154038

rs_147918962

6 SubmittersRCV000728433 RCV001089366 RCV001113837 RCV002438568 RCV005407793

NM_021625.5(TRPV4):c.651G>A (p.Ala217=)

SNV
Germline

Chr12:109803052

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Neuronopathy, distal hereditary motor, autosomal dominant 8
Condition: not provided
Metatropic dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780483

rs_371280831

4 SubmittersRCV000696233 RCV001114135 RCV001114136 RCV001114137 RCV001114138 RCV001698442 RCV001114139 RCV002360479

NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr)

SNV
Germline

Chr11:68938238

Conflicting classifications of pathogenicity

not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153980

rs_138607722

5 SubmittersRCV000612991 RCV001224658 RCV003133395 RCV005851573

NM_004990.4(MARS1):c.2204+10C>T

SNV
Germline

Chr12:57515068

Conflicting classifications of pathogenicity

not specified
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
Sarcoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6650732

rs_376636502

4 SubmittersRCV000602576 RCV000951643 RCV005898819 RCV006277931

NM_001122955.4(BSCL2):c.1234+7G>A

SNV
Germline

Chr11:62690605

Conflicting classifications of pathogenicity

not specified
Neuronopathy, distal hereditary motor, type 5A
Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6053286

rs_200631909

6 SubmittersRCV000604138 RCV001105807 RCV001105808 RCV001421953 RCV001848989 RCV002227188

NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)

SNV
Germline

Chr14:101986601

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Autosomal dominant cerebellar ataxia
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7351807

rs_35092963

6 SubmittersRCV000602668 RCV000649629 RCV000768203 RCV001114353 RCV002314168 RCV003935718

NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)

SNV
Germline

Chr14:101994241

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351940

rs_777387819

4 SubmittersRCV000616278 RCV000693393 RCV000768204 RCV002317358

NM_001376.5(DYNC1H1):c.8637+9C>T

SNV
Germline

Chr14:102022889

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7353067

rs_202042156

5 SubmittersRCV000607810 RCV000649596 RCV001173188 RCV004745503

NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)

SNV
Germline

Chr14:102029601

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7353245

rs_531438720

3 SubmittersRCV000601967 RCV001114867 RCV001114868

NM_002180.3(IGHMBP2):c.1632+4C>T

SNV
Germline

Chr11:68934562

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases
IGHMBP2-related disorder

Criteria Provided
Conflicting Classifications

CA6153719

rs_775832239

5 SubmittersRCV000811336 RCV001509411 RCV002404641 RCV004547717

NM_030962.4(SBF2):c.1812C>T (p.Asp604=)

SNV
Germline

Chr11:9962005

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
SBF2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5881742

rs_765658939

7 SubmittersRCV000861080 RCV001113198 RCV001173795 RCV001712684 RCV002413757 RCV003953078 RCV005000386

NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)

SNV
Germline

Chr14:101987584

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7351858

rs_142961295

3 SubmittersRCV001110334 RCV001110335 RCV001718969

NM_001376.5(DYNC1H1):c.2869-3C>T

SNV
Germline

Chr14:101991524

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351909

rs_750614475

5 SubmittersRCV000805299 RCV001172856 RCV001535651 RCV001707800 RCV002438590

NM_001376.5(DYNC1H1):c.13230C>T (p.Phe4410=)

SNV
Germline

Chr14:102048527

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7354190

rs_374578144

2 SubmittersRCV001408992 RCV002466545

NM_001370298.3(FGD4):c.1923-7A>G

SNV
Germline

Chr12:32624415

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6506909

rs_200542541

5 SubmittersRCV000614570 RCV000654289 RCV002066722

NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)

SNV
Germline

Chr14:102036567

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7353489

rs_35143882

6 SubmittersRCV000603410 RCV000995258 RCV001111556 RCV001113555 RCV002315913 RCV003935671

NM_001376.5(DYNC1H1):c.13548G>C (p.Val4516=)

SNV
Germline

Chr14:102049746

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA488186949

rs_1555412737

3 SubmittersRCV000615331 RCV003528209

NM_001376.5(DYNC1H1):c.5976G>A (p.Lys1992=)

SNV
Germline

Chr14:102008336

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA267001376

rs_895478584

2 SubmittersRCV000616151 RCV003528210

NM_022489.4(INF2):c.1448C>T (p.Ser483Phe)

SNV
Germline

Chr14:104707715

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
INF2-related disorder

Criteria Provided
Conflicting Classifications

CA7372571

rs_753188664

5 SubmittersRCV001112479 RCV001446526 RCV001698446 RCV003945559

NM_001605.3(AARS1):c.2521-5T>G

SNV
Germline

Chr16:70253805

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658798633

rs_1555539335

3 SubmittersRCV000603550 RCV002232573 RCV003139910

NM_001605.3(AARS1):c.2401-11A>G

SNV
Germline

Chr16:70254049

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8140419

rs_377576408

4 SubmittersRCV000612027 RCV001119869 RCV002232738

NM_001005361.3(DNM2):c.1546-18A>C

SNV
Germline

Chr19:10808551

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA631752399

rs_1426762153

3 SubmittersRCV000614276 RCV002528693 RCV003144393

NM_170707.4(LMNA):c.480C>T (p.Gly160=)

SNV
Germline

Chr1:156130740

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA053570

rs_758848135

4 SubmittersRCV000617617 RCV001314765 RCV003532203 RCV004002700

NM_170707.4(LMNA):c.513+2T>G

SNV
Germline

Chr1:156130775

Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342815749

rs_1553264668

3 SubmittersRCV000618096 RCV000786357 RCV003581698

NM_170707.4(LMNA):c.610C>G (p.Leu204Val)

SNV
Germline

Chr1:156134499

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided
11 conditions
not specified

Criteria Provided
Conflicting Classifications

CA342817031

rs_1553265177

7 SubmittersRCV000618027 RCV001185566 RCV001067181 RCV002223883 RCV002483720 RCV005407809

NM_170707.4(LMNA):c.1324G>A (p.Val442Met)

SNV
Germline

Chr1:156136380

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Cardiomyopathy
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049885

rs_368542816

9 SubmittersRCV000621062 RCV000808964 RCV001096945 RCV001096946 RCV001096939 RCV001096940 RCV001102354 RCV001102355 RCV001096942 RCV001096944 RCV001190252 RCV001096941 RCV001096943 RCV001544605 RCV004002668

NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)

SNV
Germline

Chr1:156137118

Pathogenic/Likely pathogenic

Primary familial dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA342822966

rs_57730570

4 SubmittersRCV000624376 RCV001070590 RCV004025260 RCV006252381

NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)

SNV
Germline

Chr1:156138534

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
11 conditions

Criteria Provided
Conflicting Classifications

CA342826551

rs_57830985

4 SubmittersRCV001524890 RCV002404709 RCV002533137 RCV002506519

NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)

SNV
Germline

Chr11:68908327

Pathogenic

Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal dominant
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA381643380

rs_1324667543

8 SubmittersRCV000623030 RCV000789338 RCV000806942 RCV000760313 RCV006449275

NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)

SNV
Germline

Chr11:68914972

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA6153413

rs_564645287

5 SubmittersRCV000623646 RCV000886775 RCV001113652 RCV001461687

NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)

SNV
Germline

Chr12:109792776

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Charcot-Marie-Tooth disease
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Brachyrachia (short spine dysplasia)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780113

rs_763889344

5 SubmittersRCV000622373 RCV001112154 RCV001112152 RCV001115110 RCV001173262 RCV001112153 RCV001115109 RCV001115111 RCV001797114

NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)

SNV
Germline

Chr12:109794444

Conflicting classifications of pathogenicity

Inborn genetic diseases
11 conditions
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780259

rs_201132615

4 SubmittersRCV000624146 RCV000765041 RCV000685033 RCV003227807

NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser)

SNV
Germline

Chr12:109800629

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA386655250

rs_1555208063

3 SubmittersRCV000623733 RCV003505129 RCV005414517

NM_021625.5(TRPV4):c.616C>T (p.Arg206Cys)

SNV
Germline

Chr12:109803087

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA6780495

rs_200497189

2 SubmittersRCV000623486 RCV000645551

NM_001376.5(DYNC1H1):c.13303G>A (p.Val4435Ile)

SNV
Germline

Chr14:102048600

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA7354204

rs_767195767

3 SubmittersRCV000622630 RCV002532830 RCV005900081

NM_001365088.1(SLC12A6):c.620G>A (p.Arg207His)

SNV
Germline

Chr15:34257712

Pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease, axonal, IIa 2II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391612748

rs_1555381416

4 SubmittersRCV000623060 RCV002287895 RCV002532836

NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)

SNV
Germline

Chr17:42543997

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Inborn genetic diseases
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA8577127

rs_746006696

4 SubmittersRCV002531908 RCV000622512 RCV002285379

NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys)

SNV
Germline

Chr22:30941545

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10187180

rs_371713427

4 SubmittersRCV000706478 RCV000624421 RCV002473075

NM_000166.6(GJB1):c.637A>G (p.Ile213Val)

SNV
Germline

ChrX:71224344

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Inborn genetic diseases
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10445323

rs_753503984

7 SubmittersRCV000654834 RCV000622462 RCV000789057 RCV001700255

NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)

SNV
Germline

Chr11:68915015

Pathogenic/Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Distal spinal muscular atrophy
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA223392614

rs_557416644

4 SubmittersRCV000625148 RCV000789658 RCV001700268 RCV003767833

NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)

SNV
Germline

Chr17:42543452

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
not specified
NAGLU-related disorder

Criteria Provided
Conflicting Classifications

CA8577023

rs_115994665

7 SubmittersRCV000625281 RCV000761954 RCV001080068 RCV001701131 RCV003935737

NM_002437.5(MPV17):c.376-2A>C

SNV
Germline

Chr2:27312248

Pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346207633

rs_113055360

3 SubmittersRCV000625519 RCV004568340 RCV003727787

NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val)

SNV
Germline

Chr22:50455400

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412195941

rs_1404020990

2 SubmittersRCV000625784 RCV002531926

NM_002180.3(IGHMBP2):c.1235+894C>A

SNV
Germline

Chr11:68930251

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA658797697

rs_1202430946

3 SubmittersRCV000626052 RCV002225695 RCV003767835

NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)

SNV
Germline

Chr11:68935396

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA381651275

rs_1483165002

5 SubmittersRCV000626051 RCV000789978 RCV001860471 RCV003133413 RCV004025289

NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)

SNV
Germline

Chr17:42543840

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8577104

rs_148881970

12 SubmittersRCV000625994 RCV000686454 RCV001030809 RCV001268050

NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)

SNV
Germline

Chr17:42543921

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399605457

rs_555145190

4 SubmittersRCV000625993 RCV001784182 RCV005223077

NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)

SNV
Germline

Chr1:12004858

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA338446686

rs_1266361856

1 SubmittersRCV000626228

NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)

SNV
Germline

Chr1:156114977

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342807133

rs_1553261858

2 SubmittersRCV000626229 RCV003581701

NM_170707.4(LMNA):c.329G>A (p.Arg110His)

SNV
Germline

Chr1:156115247

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA052231

rs_556237236

5 SubmittersRCV000626177 RCV001186690 RCV003106008 RCV004002756 RCV005392183

NM_022489.4(INF2):c.658G>A (p.Glu220Lys)

SNV
Germline

Chr14:104703445

Pathogenic/Likely pathogenic

Focal segmental glomerulosclerosis
Proteinuria
Renal insufficiency
Hypertensive disorder
Focal segmental glomerulosclerosis 5
Condition: not provided
Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Multiple Submitters
No Conflicts

CA391213465

rs_530391015

11 SubmittersRCV000626959 RCV000735784 RCV000711995 RCV000790334 RCV001860480 RCV002468593

NM_018706.7(DHTKD1):c.1386T>G (p.Tyr462Ter)

SNV
Germline

Chr10:12097711

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2Q

Criteria Provided
Multiple Submitters
No Conflicts

CA376020573

rs_1335731178

2 SubmittersRCV000627310 RCV005860117

NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg)

SNV
Germline

Chr1:10295760

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Adult-onset proximal spinal muscular atrophy, autosomal dominant
not specified
Charcot-Marie-Tooth disease
KIF1B-related disorder
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA581072

rs_145266399

7 SubmittersRCV000654026 RCV000664249 RCV001000948 RCV001173600 RCV003928142 RCV005601068

NM_001365951.3(KIF1B):c.2609G>A (p.Ser870Asn)

SNV
Germline

Chr1:10324829

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA338335676

rs_1553167616

2 SubmittersRCV000653906 RCV004025923

NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr)

SNV
Germline

Chr1:10326262

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA581620

rs_142567076

4 SubmittersRCV000653845 RCV001173585 RCV003937998 RCV004025915

NM_001365951.3(KIF1B):c.3271A>G (p.Ser1091Gly)

SNV
Germline

Chr1:10337382

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581748

rs_753279755

2 SubmittersRCV000653854 RCV004025916

NM_014874.4(MFN2):c.970+1G>T

SNV
Germline

Chr1:12001555

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338442069

rs_1553143890

1 SubmittersRCV000653896

NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro)

SNV
Germline

Chr1:12002087

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338443308

rs_1553144066

4 SubmittersRCV000653868 RCV000789364 RCV003482291

NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr)

SNV
Germline

Chr1:12011503

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338453821

rs_1553146551

2 SubmittersRCV000653890 RCV006436870

NM_014874.4(MFN2):c.313A>G (p.Thr105Ala)

SNV
Germline

Chr1:11996157

Pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA338433793

rs_1553142428

2 SubmittersRCV000653940 RCV000790041

NM_014874.4(MFN2):c.1082A>C (p.His361Pro)

SNV
Germline

Chr1:12002025

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338442851

rs_1064793170

1 SubmittersRCV000653938

NM_014874.4(MFN2):c.1160+1G>A

SNV
Germline

Chr1:12002104

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Criteria Provided
Multiple Submitters
No Conflicts

CA338443444

rs_1553144086

2 SubmittersRCV000653952 RCV003128251

NM_170707.4(LMNA):c.241T>C (p.Tyr81His)

SNV
Germline

Chr1:156115159

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342808404

rs_1553261977

2 SubmittersRCV000653914 RCV001289082

NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr1:156130651

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815144

rs_1553264593

1 SubmittersRCV000653933

NM_014874.4(MFN2):c.264C>G (p.Ile88Met)

SNV
Germline

Chr1:11992643

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338462084

rs_1553141680

2 SubmittersRCV000653837 RCV001566325

NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)

SNV
Germline

Chr1:156868568

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA1169061

rs_747711259

7 SubmittersRCV000631337 RCV000790288 RCV002360506

NM_014874.4(MFN2):c.694A>C (p.Thr232Pro)

SNV
Germline

Chr1:11998864

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438520

rs_1553143165

1 SubmittersRCV000653865

NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)

SNV
Germline

Chr1:11999027

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Charcot-Marie-Tooth disease type 2A2
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Autosomal dominant and autosomal recessive MFN2-related disorders

Criteria Provided
Conflicting Classifications

CA598916

rs_373107074

9 SubmittersRCV001091327 RCV000653915 RCV000789065 RCV005870733 RCV005409705 RCV006633935

NM_170707.4(LMNA):c.1749G>A (p.Ser583=)

SNV
Germline

Chr1:156138538

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
not specified
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31015378

rs_970494454

6 SubmittersRCV000654027 RCV000769732 RCV001662711 RCV002397317 RCV004004118

NM_170707.4(LMNA):c.1890G>A (p.Gly630=)

SNV
Germline

Chr1:156138679

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051614

rs_770389147

5 SubmittersRCV000653961 RCV002406474 RCV004004115 RCV006275020 RCV006552630

NM_000530.8(MPZ):c.419C>T (p.Ser140Phe)

SNV
Germline

Chr1:161306737

Pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Single Submitter

CA343348497

rs_863224449

2 SubmittersRCV000638181 RCV001027482

NM_000530.8(MPZ):c.448+1G>T

SNV
Germline

Chr1:161306707

Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343348071

rs_1407955132

2 SubmittersRCV000638180 RCV001662685

NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr1:161306858

Pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA343349564

rs_1553259683

2 SubmittersRCV000638154 RCV000789465

NM_000530.8(MPZ):c.277G>C (p.Gly93Arg)

SNV
Germline

Chr1:161306879

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343349733

rs_1553259691

1 SubmittersRCV000638166

NM_170707.4(LMNA):c.937-1G>A

SNV
Germline

Chr1:156135900

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342819711

rs_1553265606

2 SubmittersRCV000653870 RCV002369757

NM_170707.4(LMNA):c.1380+2T>G

SNV
Germline

Chr1:156136438

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822325

rs_1553265924

1 SubmittersRCV000653953

NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)

SNV
Germline

Chr1:161307340

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Multiple Submitters
No Conflicts

CA343351152

rs_1553259790

4 SubmittersRCV000638176 RCV000789497 RCV001815361 RCV006552563

NM_003680.4(YARS1):c.1048A>G (p.Met350Val)

SNV
Germline

Chr1:32781140

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA339682997

rs_1553122785

2 SubmittersRCV000640577 RCV005782009

NM_003680.4(YARS1):c.1549A>G (p.Ile517Val)

SNV
Germline

Chr1:32776019

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA744862

rs_371220818

2 SubmittersRCV000640572 RCV005782008

NM_020631.6(PLEKHG5):c.1681-8G>C

SNV
Germline

Chr1:6470363

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
not specified

Criteria Provided
Conflicting Classifications

CA561405

rs_139041955

3 SubmittersRCV000645457 RCV001085333 RCV005431834

NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile)

SNV
Germline

Chr2:74362701

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Charcot-Marie-Tooth disease
Inborn genetic diseases
DCTN1-related disorder
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Conflicting Classifications

CA1721440

rs_200834352

5 SubmittersRCV000644479 RCV001027492 RCV002458080 RCV003965364 RCV005357855

NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser)

SNV
Germline

Chr3:128813349

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2600880

rs_752824265

2 SubmittersRCV000639624 RCV002473082

NM_021629.4(GNB4):c.204-4C>G

SNV
Germline

Chr3:179416560

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate F
not specified

Criteria Provided
Conflicting Classifications

CA2712535

rs_377746889

3 SubmittersRCV000651085 RCV005240387

NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)

SNV
Germline

Chr3:38903963

Conflicting classifications of pathogenicity

Hereditary sensory and autonomic neuropathy type 7
Familial episodic pain syndrome with predominantly lower limb involvement
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2322222

rs_141228634

6 SubmittersRCV000651887 RCV000790195 RCV001509215 RCV002397308

NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)

SNV
Germline

Chr5:149027180

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3498970

rs_751621364

4 SubmittersRCV000654108 RCV002424544 RCV004732985

NM_024577.4(SH3TC2):c.385+2T>C

SNV
Germline

Chr5:149044531

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA3499536

rs_773554464

1 SubmittersRCV000654175

NM_024577.4(SH3TC2):c.3039C>A (p.Asn1013Lys)

SNV
Germline

Chr5:149026586

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498870

rs_753381949

2 SubmittersRCV000654040 RCV004957971

NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)

SNV
Germline

Chr5:149027715

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499076

rs_201985394

5 SubmittersRCV000654184 RCV001155698 RCV001155699 RCV002422422 RCV003126893

NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter)

SNV
Germline

Chr5:149027754

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361667337

rs_1554121665

1 SubmittersRCV000654098

NM_024577.4(SH3TC2):c.806-1G>A

SNV
Germline

Chr5:149038491

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361673292

rs_1554122560

1 SubmittersRCV000654068

NM_024577.4(SH3TC2):c.3833C>T (p.Ala1278Val)

SNV
Germline

Chr5:149004745

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3498617

rs_374516818

2 SubmittersRCV000654158 RCV006260951

NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)

SNV
Germline

Chr5:149006912

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3498662

rs_145390629

5 SubmittersRCV000654066 RCV002343380 RCV003480743 RCV004533427

NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile)

SNV
Germline

Chr5:149027709

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3499075

rs_764633604

3 SubmittersRCV000654061 RCV002422421 RCV005392246

NM_024577.4(SH3TC2):c.3328-1G>T

SNV
Germline

Chr5:149009002

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361664762

rs_1554120331

1 SubmittersRCV000654060

NM_024577.4(SH3TC2):c.935C>T (p.Ser312Leu)

SNV
Germline

Chr5:149038361

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499346

rs_151205080

2 SubmittersRCV000654057 RCV005645130

NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)

SNV
Germline

Chr5:149038466

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3499369

rs_757969875

7 SubmittersRCV000654173 RCV000857157 RCV001092867 RCV001153290 RCV001153289 RCV002424545 RCV004527713

NM_014845.6(FIG4):c.498-2A>G

SNV
Germline

Chr6:109735148

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365218988

rs_1554300952

1 SubmittersRCV000654162

NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)

SNV
Germline

Chr6:109735292

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Inborn genetic diseases
Condition: not provided
FIG4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3955852

rs_529048339

6 SubmittersRCV000654270 RCV001154805 RCV001154806 RCV002360664 RCV003488768 RCV003918092 RCV005000464

NM_002047.4(GARS1):c.1817G>A (p.Ser606Asn)

SNV
Germline

Chr7:30631455

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4206096

rs_773316961

3 SubmittersRCV000653945 RCV002512119 RCV005831643

NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)

SNV
Germline

Chr7:76302828

Pathogenic

Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 2B
HSPB1-related axonal neuropathies
Condition: not provided
HSPB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4306259

rs_557327165

9 SubmittersRCV000641079 RCV000789058 RCV001197515 RCV001796974 RCV002060745 RCV004544855

NM_001540.5(HSPB1):c.365-6C>G

SNV
Germline

Chr7:76303796

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 2B
not specified
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA4306358

rs_200902768

7 SubmittersRCV000641081 RCV000857185 RCV001172547 RCV001164521 RCV005435977 RCV005427198 RCV005900202

NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)

SNV
Germline

Chr7:30612215

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Spinal muscular atrophy, infantile, James type
Charcot-Marie-Tooth disease type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA367125516

rs_1554338262

4 SubmittersRCV000653928 RCV001260980 RCV001334991

NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr)

SNV
Germline

Chr7:76303841

Pathogenic

Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367765473

rs_28939680

3 SubmittersRCV000641078 RCV000789965 RCV001268034

NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly)

SNV
Germline

Chr7:30615898

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA367125926

rs_1554338641

1 SubmittersRCV000653955

NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser)

SNV
Germline

Chr8:133250452

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4886643

rs_137993172

11 SubmittersRCV000654118 RCV001159104 RCV001173714 RCV001731848 RCV002360662 RCV005418274

NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr)

SNV
Germline

Chr7:30622383

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4205994

rs_750971084

2 SubmittersRCV000653898 RCV004025921

NM_002047.4(GARS1):c.1784T>C (p.Val595Ala)

SNV
Germline

Chr7:30628644

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4206072

rs_373694973

4 SubmittersRCV000653899 RCV003320720 RCV004025922

NM_006158.5(NEFL):c.1117C>T (p.Gln373Ter)

SNV
Germline

Chr8:24954233

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

CA370620879

rs_757417962

1 SubmittersRCV000640663

NM_006096.4(NDRG1):c.528C>G (p.Ala176=)

SNV
Germline

Chr8:133256786

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4886724

rs_191237702

4 SubmittersRCV000654205 RCV001159107 RCV002343382 RCV005243328

NM_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr9:127461239

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374968146

rs_1554754342

1 SubmittersRCV000649914

NM_006158.5(NEFL):c.1175T>A (p.Leu392His)

SNV
Germline

Chr8:24953790

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA370620729

rs_1554497393

2 SubmittersRCV000640658 RCV001090303

NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)

SNV
Germline

Chr8:74361970

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA371549300

rs_1554547986

4 SubmittersRCV000643966 RCV000790267

NM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter)

SNV
Germline

Chr9:127473817

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374929642

rs_1345228128

1 SubmittersRCV000649917

NM_001005373.4(LRSAM1):c.1602G>A (p.Thr534=)

SNV
Germline

Chr9:127495322

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
not specified

Criteria Provided
Conflicting Classifications

CA5247077

rs_766032321

2 SubmittersRCV000649939 RCV005418269

NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln)

SNV
Germline

Chr9:127501139

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5247233

rs_143479340

4 SubmittersRCV000649920 RCV002422387 RCV004692029

NM_001005373.4(LRSAM1):c.252+1G>A

SNV
Germline

Chr9:127457394

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374964715

rs_1554753670

1 SubmittersRCV000649915

NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile)

SNV
Germline

Chr9:127461243

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5246529

rs_772202137

3 SubmittersRCV000649921 RCV001173635 RCV001534151

NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly)

SNV
Germline

Chr9:92047668

Conflicting classifications of pathogenicity

Hereditary sensory and autonomic neuropathy type 1
Charcot-Marie-Tooth disease
Neuropathy, hereditary sensory and autonomic, type 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5121379

rs_768841574

5 SubmittersRCV000631312 RCV000790229 RCV001249816 RCV005429262 RCV006459696

NM_030962.4(SBF2):c.280-5T>C

SNV
Germline

Chr11:10031175

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5882157

rs_368118378

4 SubmittersRCV000654287 RCV001173793 RCV002440382 RCV005629918

NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)

SNV
Germline

Chr11:68929320

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6153542

rs_779654686

4 SubmittersRCV000642636 RCV001027461 RCV002461951 RCV005418266

NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile)

SNV
Germline

Chr11:68938241

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153982

rs_199614709

3 SubmittersRCV000642632 RCV001571013 RCV002424452

NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=)

SNV
Germline

Chr11:62690839

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Severe neurodegenerative syndrome with lipodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6053327

rs_746737457

3 SubmittersRCV000654025 RCV001331509 RCV002369759

NM_030962.4(SBF2):c.3582C>T (p.Leu1194=)

SNV
Germline

Chr11:9832294

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881227

rs_201514622

3 SubmittersRCV001113092 RCV001408984 RCV002458159

NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)

SNV
Germline

Chr12:109786726

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6779965

rs_145102919

4 SubmittersRCV000645535 RCV000856929 RCV001113399 RCV001113400 RCV001114786 RCV001114787 RCV001113398 RCV002458090

NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser)

SNV
Germline

Chr12:109800666

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386655325

rs_267607146

1 SubmittersRCV000645554

NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu)

SNV
Germline

Chr12:109802993

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386655927

rs_1289139464

1 SubmittersRCV000645547

NM_016156.6(MTMR2):c.993+1G>A

SNV
Germline

Chr11:95849673

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA382425108

rs_1555060614

1 SubmittersRCV000654174

NM_016156.6(MTMR2):c.804+2T>G

SNV
Germline

Chr11:95850598

Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Multiple Submitters
No Conflicts

CA382425665

rs_1555061026

2 SubmittersRCV000654064 RCV005010633

NM_030962.4(SBF2):c.1396-6T>C

SNV
Germline

Chr11:9968551

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881831

rs_369973804

2 SubmittersRCV000654113 RCV002388148

NM_021625.5(TRPV4):c.387-6C>T

SNV
Germline

Chr12:109808474

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780555

rs_775634013

2 SubmittersRCV000645574 RCV002360596

NM_002180.3(IGHMBP2):c.449+1G>A

SNV
Germline

Chr11:68908338

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
IGHMBP2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA381643402

rs_797044802

3 SubmittersRCV000642630 RCV001336445 RCV004740380

NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)

SNV
Germline

Chr11:68933337

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
not specified

Criteria Provided
Conflicting Classifications

CA6153589

rs_769046350

2 SubmittersRCV000642637 RCV004768499

NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=)

SNV
Germline

Chr11:68936766

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153873

rs_149684358

3 SubmittersRCV000642645 RCV001109738 RCV002449020

NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val)

SNV
Germline

Chr11:95836177

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6239891

rs_149476960

5 SubmittersRCV000654177 RCV001771907 RCV001172726 RCV001803923 RCV002397320

NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)

SNV
Germline

Chr12:119193770

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2L
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6819618

rs_373049356

6 SubmittersRCV000761845 RCV001086445 RCV004025592 RCV005000427

NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)

SNV
Germline

Chr12:57490333

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6650223

rs_138776588

8 SubmittersRCV000652557 RCV001173657 RCV001700442 RCV004025871

NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)

SNV
Germline

Chr12:32598531

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6506682

rs_147969494

4 SubmittersRCV000654264 RCV001114310 RCV002360663

NM_004990.4(MARS1):c.1369-7A>C

SNV
Germline

Chr12:57511691

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA6650508

rs_377050640

2 SubmittersRCV000652568 RCV001334346

NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)

SNV
Germline

Chr12:57516549

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
Condition: not provided
not specified
MARS1-related disorder

Criteria Provided
Conflicting Classifications

CA6650919

rs_35843015

6 SubmittersRCV000652561 RCV001592822 RCV004025872 RCV003937984

NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys)

SNV
Germline

Chr14:101985702

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391017814

rs_1298953581

2 SubmittersRCV000649580 RCV002388132

NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)

SNV
Germline

Chr14:102004909

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352363

rs_138287354

5 SubmittersRCV000649570 RCV001251968 RCV001779034 RCV002334186

NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met)

SNV
Germline

Chr14:102018473

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
Rhizomelic chondrodysplasia punctata type 5
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA7352972

rs_376679623

4 SubmittersRCV000649563 RCV001091158 RCV002424511 RCV004813129 RCV005860121

NM_001376.5(DYNC1H1):c.9263+5G>A

SNV
Germline

Chr14:102027838

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353185

rs_200144865

3 SubmittersRCV000649574 RCV002369741 RCV004546548

NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)

SNV
Germline

Chr14:102047967

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354158

rs_201575292

3 SubmittersRCV000649543 RCV001109549 RCV002386099

NM_022489.4(INF2):c.3126C>T (p.Ser1042=)

SNV
Germline

Chr14:104714288

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA267330543

rs_1035033414

2 SubmittersRCV000649973

NM_022489.4(INF2):c.2155G>A (p.Glu719Lys)

SNV
Germline

Chr14:104710104

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372850

rs_775500020

3 SubmittersRCV000649983 RCV004791678

NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp)

SNV
Germline

Chr14:104714799

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373328

rs_200823300

2 SubmittersRCV000649961

NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met)

SNV
Germline

Chr14:101979344

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA391007351

rs_749548033

3 SubmittersRCV000649553 RCV002358867 RCV005407840

NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser)

SNV
Germline

Chr14:102012442

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA267004406

rs_142335110

4 SubmittersRCV000649567 RCV001779033 RCV006342440

NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=)

SNV
Germline

Chr14:102042676

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353932

rs_146075696

2 SubmittersRCV000649610 RCV001088233

NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)

SNV
Germline

Chr14:102049481

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266989027

rs_199692678

4 SubmittersRCV000649549 RCV000763908 RCV004972819

NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys)

SNV
Germline

Chr14:102050495

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354387

rs_200149883

3 SubmittersRCV000649555 RCV000767957 RCV004025786

NM_022489.4(INF2):c.2755C>G (p.Leu919Val)

SNV
Germline

Chr14:104712972

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
INF2-related disorder

Criteria Provided
Conflicting Classifications

CA7373055

rs_377145979

4 SubmittersRCV000649967 RCV002440354 RCV003420140

NM_022489.4(INF2):c.2858G>A (p.Arg953Gln)

SNV
Germline

Chr14:104713289

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA391222788

rs_1385146569

3 SubmittersRCV000649977 RCV001771896 RCV004783833

NM_022489.4(INF2):c.2989G>A (p.Asp997Asn)

SNV
Germline

Chr14:104713555

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373145

rs_370719592

3 SubmittersRCV000649963 RCV001811421 RCV002440353

NM_022489.4(INF2):c.3041-4C>T

SNV
Germline

Chr14:104714199

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA267330505

rs_945997134

2 SubmittersRCV000649996 RCV002442344

NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)

SNV
Germline

Chr14:104714221

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373169

rs_368372551

2 SubmittersRCV000649959 RCV002442343

NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val)

SNV
Germline

Chr14:101983177

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7351641

rs_771355909

3 SubmittersRCV000649540 RCV001091153

NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met)

SNV
Germline

Chr14:102005087

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7352388

rs_780345145

3 SubmittersRCV000649581 RCV001566125 RCV005900292

NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)

SNV
Germline

Chr14:102050168

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Condition: not provided
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7354354

rs_147580834

4 SubmittersRCV000649632 RCV001113640 RCV001553349 RCV003892476

NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn)

SNV
Germline

Chr14:102050489

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7354385

rs_750353606

2 SubmittersRCV000649557 RCV002260655

NM_022489.4(INF2):c.1957G>A (p.Glu653Lys)

SNV
Germline

Chr14:104709288

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Kidney disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7372766

rs_368576387

5 SubmittersRCV000649964 RCV002261158 RCV002294363 RCV002422390 RCV005407841

NM_022489.4(INF2):c.2440G>A (p.Asp814Asn)

SNV
Germline

Chr14:104711650

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372939

rs_373532334

5 SubmittersRCV000649958 RCV000786890 RCV002458127 RCV002461961

NM_022489.4(INF2):c.2847G>A (p.Ala949=)

SNV
Germline

Chr14:104713278

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373096

rs_754546219

3 SubmittersRCV001112577 RCV001500509 RCV002440355

NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)

SNV
Germline

Chr15:44570592

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534137

rs_200283964

5 SubmittersRCV000642551 RCV001507875 RCV002467954 RCV002467955 RCV003243229

NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)

SNV
Germline

Chr15:44565909

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7533946

rs_200276333

9 SubmittersRCV000642530 RCV001507872 RCV002360574 RCV002467948 RCV002467949 RCV004748877

NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys)

SNV
Germline

Chr15:44584288

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7534419

rs_201254271

3 SubmittersRCV000642580 RCV002467966 RCV002467965

NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)

SNV
Germline

Chr15:44615544

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7535116

rs_372906057

5 SubmittersRCV000642550 RCV002282282 RCV005010624 RCV005000438

NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)

SNV
Germline

Chr15:44595404

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534658

rs_747973076

4 SubmittersRCV000642552 RCV001508756 RCV002467956 RCV002530011 RCV002467957

NM_001605.3(AARS1):c.817-4A>G

SNV
Germline

Chr16:70269767

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141022

rs_746210439

2 SubmittersRCV000653963 RCV002461995

NM_001605.3(AARS1):c.2083C>T (p.Arg695Ter)

SNV
Germline

Chr16:70258127

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8140571

rs_761043713

2 SubmittersRCV000653864 RCV004696967

NM_001605.3(AARS1):c.1509G>A (p.Val503=)

SNV
Germline

Chr16:70262508

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8140771

rs_138406510

4 SubmittersRCV000654021 RCV001118434 RCV005627246 RCV005091876

NM_000304.4(PMP22):c.78+1G>A

SNV
Germline

Chr17:15260649

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398271648

rs_1426969421

1 SubmittersRCV000638172

NM_000304.4(PMP22):c.206T>C (p.Met69Thr)

SNV
Germline

Chr17:15239584

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided
Inborn genetic diseases
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type IA

Criteria Provided
Conflicting Classifications

CA288098399

rs_104894620

4 SubmittersRCV000638164 RCV001731826 RCV002420718 RCV005409695

NM_000304.4(PMP22):c.83G>A (p.Trp28Ter)

SNV
Germline

Chr17:15259189

Pathogenic

Charcot-Marie-Tooth disease, type I
Hereditary liability to pressure palsies

Criteria Provided
Multiple Submitters
No Conflicts

CA398271192

rs_1555568475

2 SubmittersRCV000638157 RCV005870719

NM_001005361.3(DNM2):c.889C>T (p.Arg297Cys)

SNV
Germline

Chr19:10786603

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9200925

rs_760254039

3 SubmittersRCV000641096 RCV001507413 RCV002369681

NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln)

SNV
Germline

Chr19:40394514

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9443770

rs_146205352

4 SubmittersRCV000654259 RCV001811430 RCV002358894 RCV003945683

NM_181882.3(PRX):c.1129G>T (p.Val377Leu)

SNV
Germline

Chr19:40397223

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444320

rs_754081921

4 SubmittersRCV000654272 RCV001173775 RCV002305523 RCV002325319

NM_030973.4(MED25):c.602C>T (p.Pro201Leu)

SNV
Germline

Chr19:49829862

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9584928

rs_144354024

3 SubmittersRCV000653910 RCV002264973 RCV004639306

NM_000214.3(JAG1):c.1794C>G (p.Val598=)

SNV
Germline

Chr20:10647030

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA509661330

rs_200580391

2 SubmittersRCV000645028 RCV005034216

NM_181882.3(PRX):c.1215C>T (p.Pro405=)

SNV
Germline

Chr19:40397137

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444301

rs_377184301

3 SubmittersRCV000654224 RCV001136191 RCV002358893

NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn)

SNV
Germline

Chr22:30949811

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10187301

rs_150980372

3 SubmittersRCV000652685 RCV002424533 RCV003156277

NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)

SNV
Germline

ChrX:71223715

Pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413499283

rs_1555936989

3 SubmittersRCV000654851 RCV000789800 RCV003447153

NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)

SNV
Germline

ChrX:71223886

Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413501299

rs_1555937082

5 SubmittersRCV000654836 RCV000789055 RCV003447152 RCV005641770

NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)

SNV
Germline

ChrX:71224266

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413503167

rs_1555937244

4 SubmittersRCV000654848 RCV000789818 RCV002248849 RCV003482294

NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)

SNV
Germline

ChrX:71223715

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA413499286

rs_1555936989

3 SubmittersRCV000654850 RCV000789228

NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)

SNV
Germline

ChrX:71224198

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Condition: not provided
Peripheral neuropathy
Charcot-Marie-Tooth disease X-linked dominant 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA413502758

rs_1241595912

10 SubmittersRCV000654841 RCV000789839 RCV001310733 RCV001814206 RCV002289943 RCV002343392

NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)

SNV
Germline

ChrX:71224537

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10445350

rs_748095080

4 SubmittersRCV000654847 RCV001271692 RCV002424550 RCV003482293

NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)

SNV
Germline

Chr1:116384802

Pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD
Condition: not provided
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA341840480

rs_1553190285

4 SubmittersRCV000656712 RCV001092891 RCV003311870

NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)

SNV
Germline

Chr1:116395247

Pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD
Charcot-Marie-Tooth disease type 2A2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341771634

rs_1553192091

5 SubmittersRCV000656713 RCV003311871 RCV005091883

NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)

SNV
Germline

Chr1:116395247

Likely pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD
Condition: not provided
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA341771633

rs_1553192091

3 SubmittersRCV000656714 RCV002534251 RCV003311872

NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)

SNV
Germline

Chr1:116395224

Pathogenic/Likely pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD
Condition: not provided
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA341771587

rs_1553192086

4 SubmittersRCV000656715 RCV001855351 RCV003311873

NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)

SNV
Germline

Chr1:116399068

Conflicting classifications of pathogenicity

Charcot-Marie-tooth disease, axonal, type 2DD
Charcot-Marie-Tooth disease type 2A2

No Assertion Criteria Provided

CA341773876

rs_1553192783

2 SubmittersRCV000656716 RCV003311874

NM_024577.4(SH3TC2):c.1172T>G (p.Leu391Arg)

SNV
Germline

Chr5:149028682

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499267

rs_141544031

4 SubmittersRCV000658272 RCV000820219 RCV002331289

NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)

SNV
Germline

Chr14:102033425

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391024509

rs_1555411400

3 SubmittersRCV000658400 RCV000763907 RCV003117461

NM_014874.4(MFN2):c.299C>G (p.Ala100Gly)

SNV
Germline

Chr1:11992678

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA338462338

rs_1553141707

3 SubmittersRCV000658492 RCV000707644 RCV000790051

NM_001376.5(DYNC1H1):c.12867C>T (p.Asp4289=)

SNV
Germline

Chr14:102044456

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7354050

rs_571858561

2 SubmittersRCV000658706 RCV002066954

NM_021076.4(NEFH):c.1169A>C (p.Asn390Thr)

SNV
Germline

Chr22:29485808

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
NEFH-related disorder
not specified
Amyotrophic lateral sclerosis type 1
Charcot-Marie-Tooth disease axonal type 2CC

Criteria Provided
Conflicting Classifications

CA10174135

rs_148653339

9 SubmittersRCV000658933 RCV002331292 RCV003953221 RCV005407848 RCV005863243

NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser)

SNV
Germline

Chr22:30928161

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2Z
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10186519

rs_781162787

5 SubmittersRCV000658935 RCV001040521 RCV001784225 RCV002440403

NM_002109.6(HARS1):c.90+1G>C

SNV
Germline

Chr5:140691214

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Usher syndrome type 3B
Usher syndrome type 3B

Criteria Provided
Conflicting Classifications

CA361191603

rs_1554109203

3 SubmittersRCV000659027 RCV000660455 RCV000807497

NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)

SNV
Germline

Chr5:149028329

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3499184

rs_6874630

9 SubmittersRCV000659031 RCV001089278 RCV001155786 RCV001155785 RCV001172836 RCV004544917

NM_002109.6(HARS1):c.397G>T (p.Val133Phe)

SNV
Unknown

Chr5:140679127

Likely pathogenic

Autosomal dominant Charcot-Marie-Tooth disease type 2W

Criteria Provided
Single Submitter

CA361257482

rs_1554107200

1 SubmittersRCV000660862

NM_003172.4(SURF1):c.588+1G>A

SNV
Germline

Chr9:133352693

Pathogenic

Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Leigh syndrome

Criteria Provided
Single Submitter

CA375693956

rs_1219762677

2 SubmittersRCV000662348 RCV002530598

NM_014874.4(MFN2):c.154G>A (p.Glu52Lys)

SNV
Germline

Chr1:11989322

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

No Assertion Criteria Provided

CA338460007

rs_1553141017

2 SubmittersRCV000664230

NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)

SNV
Germline

Chr1:161306911

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 2I

Criteria Provided
Multiple Submitters
No Conflicts

CA343350015

rs_1553259707

5 SubmittersRCV000664225 RCV000789442 RCV000701835 RCV005409710

NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala)

SNV
Germline

Chr7:76303852

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Conflicting Classifications

CA367765535

rs_1554614648

3 SubmittersRCV000664215 RCV003336128

NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter)

SNV
Germline

Chr11:95847729

Pathogenic

Charcot-Marie-Tooth disease type 4B1

No Assertion Criteria Provided

CA382422946

rs_1555060024

2 SubmittersRCV000664231

NM_001605.3(AARS1):c.328T>C (p.Phe110Leu)

SNV
Unknown

Chr16:70276971

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2N
Condition: not provided

No Assertion Criteria Provided

CA396569299

rs_1555542415

2 SubmittersRCV000664214 RCV004568484

NM_181882.3(PRX):c.3703G>T (p.Glu1235Ter)

SNV
Germline

Chr19:40394649

Pathogenic

Charcot-Marie-Tooth disease type 4F

No Assertion Criteria Provided

CA405892600

rs_1385904344

1 SubmittersRCV000664232

NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter)

SNV
Germline

Chr15:34235205

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Single Submitter

CA7463873

rs_768514327

2 SubmittersRCV000670221 RCV005010663

NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:42536274

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA290771159

rs_1013345784

3 SubmittersRCV000668625 RCV003767964

NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)

SNV
Germline

Chr17:42536416

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA399595410

rs_104894599

3 SubmittersRCV000671657 RCV001868256 RCV004721541

NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)

SNV
Germline

Chr17:42536546

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399595903

rs_1555621454

4 SubmittersRCV000672989 RCV001861816

NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)

SNV
Germline

Chr17:42537475

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA8576770

rs_770684838

3 SubmittersRCV000674604 RCV001861844

NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)

SNV
Germline

Chr17:42543700

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided
Charcot-Marie-Tooth disease
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA8577079

rs_104894598

9 SubmittersRCV000673096 RCV001070181 RCV003489793 RCV004798854 RCV005901500

NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)

SNV
Germline

Chr17:42543869

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399605222

rs_1555622488

3 SubmittersRCV000666920 RCV002530702

NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)

SNV
Germline

Chr17:42543778

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA399604823

rs_1215582852

6 SubmittersRCV000674403 RCV001855608 RCV004768546

NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)

SNV
Germline

Chr17:42543817

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA8577099

rs_751203469

9 SubmittersRCV000670027 RCV001532304 RCV001855534

NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)

SNV
Germline

Chr17:42536630

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399596279

rs_1445294968

4 SubmittersRCV000667938 RCV001214720

NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)

SNV
Germline

Chr17:42541059

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
NAGLU-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA399600113

rs_1358994052

6 SubmittersRCV000668384 RCV001855498 RCV004751657

NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)

SNV
Germline

Chr17:42541189

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA290778820

rs_768918822

4 SubmittersRCV000673135 RCV001855591 RCV002245569

NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)

SNV
Germline

Chr17:42543099

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA399601120

rs_1555622242

3 SubmittersRCV000673665 RCV001218806 RCV001784286

NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)

SNV
Germline

Chr17:42543217

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA290780217

rs_904672363

6 SubmittersRCV000666363 RCV001043279 RCV006367220 RCV005641774

NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)

SNV
Germline

Chr17:42543247

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8576984

rs_768814260

8 SubmittersRCV000668171 RCV000819008 RCV003117471

NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)

SNV
Germline

Chr17:42543451

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8577022

rs_200909691

3 SubmittersRCV000669494 RCV001855520 RCV003227824

NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)

SNV
Germline

Chr17:42544068

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA399606050

rs_1195831432

3 SubmittersRCV000672689 RCV003767998 RCV005243336

NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)

SNV
Germline

Chr17:42544122

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder

Criteria Provided
Conflicting Classifications

CA399606195

rs_752527478

5 SubmittersRCV000668667 RCV001060496 RCV003403552

NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr17:42536276

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399594833

rs_1555621397

2 SubmittersRCV000666674 RCV001855464

NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)

SNV
Germline

Chr17:42536615

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Intellectual disability
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8576703

rs_758785463

5 SubmittersRCV000668973 RCV001252580 RCV003767970 RCV004768533

NM_000263.4(NAGLU):c.384-1G>A

SNV
Germline

Chr17:42537397

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA8576757

rs_764134891

4 SubmittersRCV000668095 RCV002530736

NM_000263.4(NAGLU):c.680A>C (p.His227Pro)

SNV
Germline

Chr17:42538671

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA8576831

rs_747155746

4 SubmittersRCV000668224 RCV000996550 RCV005019125

NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)

SNV
Germline

Chr17:42541185

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA290778808

rs_749140168

3 SubmittersRCV000668600 RCV001030806 RCV001378697

NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)

SNV
Germline

Chr17:42543342

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosistype IIIB
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA8577002

rs_114625063

5 SubmittersRCV000668870 RCV001250253 RCV003767969

NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)

SNV
Germline

Chr17:42543396

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA8577012

rs_138387856

3 SubmittersRCV000668270 RCV001206756 RCV004957981

NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)

SNV
Germline

Chr17:42543564

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA290780757

rs_992677795

5 SubmittersRCV000668984 RCV000675733 RCV001868227

NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)

SNV
Germline

Chr17:42543680

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399604427

rs_762031686

2 SubmittersRCV000674733 RCV003768013

NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)

SNV
Germline

Chr17:42544026

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Tip-toe gait
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8577130

rs_763299645

10 SubmittersRCV000668435 RCV001248721 RCV001838091 RCV003140063

NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)

SNV
Germline

Chr17:42544119

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399606186

rs_1364203992

3 SubmittersRCV000670297 RCV001861790

NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)

SNV
Germline

Chr1:156136080

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342820502

rs_1553265736

2 SubmittersRCV000677300 RCV001384174

NM_014363.6(SACS):c.262C>T (p.Arg88Ter)

SNV
Germline

Chr13:23368485

Pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387553373

rs_1555255676

5 SubmittersRCV000677658 RCV001816685 RCV002305528 RCV002544685

NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser)

SNV
Germline

Chr7:76302731

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Conflicting Classifications

CA367762689

rs_1563651698

2 SubmittersRCV000678494 RCV001366718

NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu)

SNV
Germline

Chr7:76304115

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA367767133

rs_774585320

4 SubmittersRCV000678498 RCV002544689 RCV003482296

NM_014365.3(HSPB8):c.422A>T (p.Lys141Met)

SNV
Germline

Chr12:119187079

Pathogenic

Charcot-Marie-Tooth disease axonal type 2L

Criteria Provided
Single Submitter

CA386529568

rs_1565929090

1 SubmittersRCV000678501

NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)

SNV
Germline

Chr11:68935374

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA223412133

rs_1000091588

6 SubmittersRCV000680011 RCV000790274 RCV000856973 RCV001218953

NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)

SNV
Germline

Chr15:44565954

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
not specified

Criteria Provided
Conflicting Classifications

CA7533957

rs_371334506

4 SubmittersRCV000679859 RCV000806086 RCV002467985 RCV002467984 RCV005431870

NM_022489.4(INF2):c.530G>A (p.Arg177His)

SNV
Germline

Chr14:104703317

Pathogenic

Condition: not provided
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391213199

rs_1566778651

3 SubmittersRCV000681879 RCV000735668 RCV005010675

NM_001365951.3(KIF1B):c.2675+3A>G

SNV
Germline

Chr1:10324898

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA581577

rs_200684032

5 SubmittersRCV000691393 RCV003238178 RCV004025086 RCV005049658

NM_001365951.3(KIF1B):c.3625C>G (p.Leu1209Val)

SNV
Germline

Chr1:10342161

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA338341957

rs_1320246121

4 SubmittersRCV000700628 RCV001507420 RCV004026519

NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)

SNV
Germline

Chr1:12009651

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338453131

rs_1557537223

3 SubmittersRCV000697850 RCV000789408 RCV002468601

NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg)

SNV
Germline

Chr1:12011509

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338453866

rs_1557539004

1 SubmittersRCV000693444

NM_014874.4(MFN2):c.475-2A>G

SNV
Germline

Chr1:11997295

Pathogenic

Charcot-Marie-Tooth disease type 2
Hereditary motor neuron disease

Criteria Provided
Single Submitter

CA338436160

rs_1557522794

2 SubmittersRCV000686972 RCV001027465

NM_014874.4(MFN2):c.638T>C (p.Ile213Thr)

SNV
Germline

Chr1:11998808

Pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA338437956

rs_1557524703

2 SubmittersRCV000697709 RCV000789396

NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)

SNV
Germline

Chr1:156136083

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820516

rs_1340894696

1 SubmittersRCV000704281

NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)

SNV
Germline

Chr1:156136414

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Lethal tight skin contracture syndrome
Condition: not provided
Primary dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
11 conditions

Criteria Provided
Conflicting Classifications

CA049965

rs_267607598

8 SubmittersRCV000690888 RCV001097051 RCV001097053 RCV001102456 RCV001097049 RCV001097050 RCV001097052 RCV001183072 RCV001097054 RCV001102454 RCV001786410 RCV003999552 RCV005250092 RCV005046932

NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu)

SNV
Germline

Chr1:156138700

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA026527

rs_117939448

4 SubmittersRCV000702617 RCV001177162 RCV003999732 RCV004639336

NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)

SNV
Germline

Chr1:161306854

Pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA31668832

rs_1017715903

3 SubmittersRCV000690960 RCV000789448 RCV002440447

NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr1:156114922

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342805855

rs_1558115754

2 SubmittersRCV000688289 RCV002343440

NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)

SNV
Germline

Chr1:156136240

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342820935

rs_267607561

2 SubmittersRCV000706257 RCV003165920

NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)

SNV
Germline

Chr1:156138651

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051434

rs_765594825

9 SubmittersRCV000687429 RCV001193913 RCV001191647 RCV001572302 RCV002406543 RCV002493155 RCV004004266

NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)

SNV
Germline

Chr1:161306885

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343349780

rs_1383238492

3 SubmittersRCV000704394 RCV001173703 RCV001772002

NM_000530.8(MPZ):c.154T>G (p.Phe52Val)

SNV
Germline

Chr1:161307338

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343351138

rs_1558154644

1 SubmittersRCV000689231

NM_014874.4(MFN2):c.271G>T (p.Val91Leu)

SNV
Germline

Chr1:11992650

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Criteria Provided
Conflicting Classifications

CA338462123

rs_1557519001

3 SubmittersRCV000857089 RCV000705260 RCV001353161

NM_014874.4(MFN2):c.497C>T (p.Ala166Val)

SNV
Germline

Chr1:11997319

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA338436276

rs_1557522849

3 SubmittersRCV000697586 RCV000986242 RCV006367259

NM_014874.4(MFN2):c.752C>G (p.Pro251Arg)

SNV
Germline

Chr1:11999031

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA338439120

rs_1557525153

2 SubmittersRCV000700405 RCV000789692

NM_014874.4(MFN2):c.776G>A (p.Arg259His)

SNV
Germline

Chr1:11999055

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2A2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA598918

rs_755065651

5 SubmittersRCV000700272 RCV000789388 RCV002406618 RCV005418312 RCV005633643

NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter)

SNV
Germline

Chr1:12011542

Pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338454512

rs_1557539119

3 SubmittersRCV000693486 RCV000789409 RCV001712732

NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)

SNV
Germline

Chr1:156115009

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342807397

rs_1228406418

2 SubmittersRCV000695532 RCV003456423

NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)

SNV
Germline

Chr1:156130756

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
11 conditions
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA053599

rs_370200334

5 SubmittersRCV000695871 RCV002334317 RCV002499247 RCV003532242 RCV003999646

NM_000530.8(MPZ):c.411C>T (p.Gly137=)

SNV
Germline

Chr1:161306745

Pathogenic

Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA421405078

rs_1558153994

3 SubmittersRCV000700482 RCV000789490 RCV004719959

NM_000530.8(MPZ):c.397C>G (p.Pro133Ala)

SNV
Germline

Chr1:161306759

Likely pathogenic

Charcot-Marie-Tooth disease, type I
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA343348711

rs_1553259648

2 SubmittersRCV000701482 RCV006605297

NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)

SNV
Germline

Chr1:32781089

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate C
recessive ARS-related multisystem disease
Condition: not provided
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Criteria Provided
Multiple Submitters
No Conflicts

CA744989

rs_376054085

6 SubmittersRCV000687751 RCV001264808 RCV001584557 RCV002226737

NM_003680.4(YARS1):c.1012A>G (p.Ser338Gly)

SNV
Germline

Chr1:32782434

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA745029

rs_763921769

3 SubmittersRCV000692908 RCV002462030 RCV004777833

NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)

SNV
Germline

Chr1:6468294

Pathogenic/Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Multiple Submitters
No Conflicts

CA561140

rs_770593694

4 SubmittersRCV000685826 RCV001786409 RCV004689854

NM_020631.6(PLEKHG5):c.2864A>G (p.Lys955Arg)

SNV
Germline

Chr1:6467972

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA561077

rs_771066341

3 SubmittersRCV000693385 RCV005470492 RCV006448569

NM_014874.4(MFN2):c.718T>G (p.Phe240Val)

SNV
Germline

Chr1:11998997

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438889

rs_1557525005

1 SubmittersRCV000687000

NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro)

SNV
Germline

Chr1:12002034

Pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338442904

rs_879254011

3 SubmittersRCV000693474 RCV000790019 RCV001809756

NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro)

SNV
Germline

Chr1:12009693

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
MFN2-related disorder
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338453293

rs_1557537346

4 SubmittersRCV000695484 RCV000789361 RCV004535732 RCV004788131

NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)

SNV
Germline

Chr1:156115102

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA500017

rs_56793579

2 SubmittersRCV000691484 RCV005870798

NM_000530.8(MPZ):c.454A>G (p.Thr152Ala)

SNV
Germline

Chr1:161306459

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1210156

rs_764402416

4 SubmittersRCV000691528 RCV002334293 RCV005641782 RCV006268951

NM_000530.8(MPZ):c.398C>G (p.Pro133Arg)

SNV
Germline

Chr1:161306758

Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA343348688

rs_1558154010

2 SubmittersRCV000693325 RCV003152728

NM_003680.4(YARS1):c.176T>C (p.Ile59Thr)

SNV
Germline

Chr1:32810939

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
recessive ARS-related multisystem disease
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Neurodevelopmental delay

Criteria Provided
Conflicting Classifications

CA745270

rs_774466323

4 SubmittersRCV000698802 RCV000984016 RCV001813550 RCV002274090

NM_004637.6(RAB7A):c.568A>G (p.Ile190Val)

SNV
Germline

Chr3:128813366

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2600883

rs_147480945

4 SubmittersRCV000695902 RCV002343491 RCV005865381

NM_021629.4(GNB4):c.44G>A (p.Arg15Gln)

SNV
Germline

Chr3:179426157

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate F
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2712633

rs_138187021

4 SubmittersRCV000693922 RCV002332441 RCV006452845

NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter)

SNV
Germline

Chr5:149006960

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA3498676

rs_761972717

2 SubmittersRCV000702693 RCV001027478

NM_024577.4(SH3TC2):c.2989C>T (p.Arg997Trp)

SNV
Germline

Chr5:149026636

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified

Criteria Provided
Conflicting Classifications

CA3498882

rs_763331671

2 SubmittersRCV000701971 RCV004689863

NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter)

SNV
Germline

Chr5:149027314

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361666407

rs_1561764735

1 SubmittersRCV000686216

NM_024577.4(SH3TC2):c.257A>G (p.Gln86Arg)

SNV
Germline

Chr5:149047884

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499587

rs_138429238

3 SubmittersRCV000695205 RCV002254943 RCV002458253

NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp)

SNV
Germline

Chr5:149004743

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3498615

rs_536334280

3 SubmittersRCV000695950 RCV001662764

NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr)

SNV
Germline

Chr5:149027964

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499129

rs_149244124

3 SubmittersRCV000685539 RCV001174030 RCV002397362

NM_024577.4(SH3TC2):c.1177+5G>A

SNV
Germline

Chr5:149028672

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA447399677

rs_1561765688

4 SubmittersRCV000697438 RCV002332465 RCV003126908 RCV005001103

NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)

SNV
Germline

Chr5:149038367

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA3499347

rs_763949764

2 SubmittersRCV000698448 RCV005046954

NM_021629.4(GNB4):c.598G>A (p.Val200Ile)

SNV
Germline

Chr3:179413513

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2712458

rs_775578986

2 SubmittersRCV000700160 RCV004026503

NM_002047.4(GARS1):c.1543G>A (p.Val515Met)

SNV
Germline

Chr7:30622392

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4205995

rs_367589841

2 SubmittersRCV000700633 RCV004026520

NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)

SNV
Germline

Chr7:76302732

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA367762694

rs_1405359814

2 SubmittersRCV000705280 RCV004719966

NM_002047.4(GARS1):c.1359C>T (p.Tyr453=)

SNV
Germline

Chr7:30617278

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA156053109

rs_901778260

2 SubmittersRCV000704006 RCV001811453

NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)

SNV
Germline

Chr7:76303840

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Single Submitter

CA4306380

rs_766728475

1 SubmittersRCV000684870

NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)

SNV
Germline

Chr3:38897153

Conflicting classifications of pathogenicity

Hereditary sensory and autonomic neuropathy type 7
Familial episodic pain syndrome with predominantly lower limb involvement
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2322129

rs_145734191

6 SubmittersRCV000706069 RCV000790193 RCV001509214 RCV002422607

NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr5:149027586

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361666981

rs_1561764925

1 SubmittersRCV000707691

NM_024577.4(SH3TC2):c.1240G>A (p.Val414Met)

SNV
Germline

Chr5:149028492

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499220

rs_138303846

5 SubmittersRCV000702085 RCV001092865 RCV002386252

NM_024577.4(SH3TC2):c.529+1G>A

SNV
Germline

Chr5:149042693

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease, type I
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499487

rs_769410348

4 SubmittersRCV000685365 RCV000857158 RCV001662747 RCV002343430

NM_024577.4(SH3TC2):c.280-2A>G

SNV
Germline

Chr5:149044640

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361677040

rs_1561770798

1 SubmittersRCV000706056

NM_018972.4(GDAP1):c.845G>A (p.Arg282His)

SNV
Germline

Chr8:74364135

Pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease
Inborn genetic diseases
GDAP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4785207

rs_375431837

4 SubmittersRCV000697077 RCV000789687 RCV002442480 RCV004535737

NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)

SNV
Germline

Chr10:12094222

Conflicting classifications of pathogenicity

2-aminoadipic 2-oxoadipic aciduria
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2Q

Criteria Provided
Conflicting Classifications

CA5407806

rs_138884194

10 SubmittersRCV000696727 RCV001508294 RCV002534332 RCV005253075

NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys)

SNV
Germline/somatic

Chr10:62813572

Pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA5517178

rs_751448371

3 SubmittersRCV000699774 RCV001575460 RCV004669089

NM_001122955.4(BSCL2):c.992G>A (p.Arg331His)

SNV
Germline

Chr11:62691293

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6053390

rs_201229787

3 SubmittersRCV000698889 RCV002422548 RCV004723101

NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)

SNV
Germline

Chr11:68906163

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA381642415

rs_1057518943

5 SubmittersRCV000698226 RCV001572867 RCV002406605

NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)

SNV
Germline

Chr11:68935359

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Distal spinal muscular atrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6153741

rs_770111639

8 SubmittersRCV000705582 RCV000768429 RCV001090413 RCV000790283 RCV002397478

NM_024577.4(SH3TC2):c.2215A>G (p.Met739Val)

SNV
Germline

Chr5:149027517

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499045

rs_146707871

2 SubmittersRCV000704654 RCV002424705

NM_024577.4(SH3TC2):c.574G>A (p.Glu192Lys)

SNV
Germline

Chr5:149041573

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499457

rs_755054839

3 SubmittersRCV000691668 RCV002261178 RCV002547167

NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)

SNV
Germline

Chr8:74350573

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA179354582

rs_761035569

5 SubmittersRCV000690220 RCV000857203 RCV001173312 RCV005409719

NM_018972.4(GDAP1):c.694+1G>A

SNV
Germline

Chr8:74363054

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4A
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Multiple Submitters
No Conflicts

CA371549708

rs_1183978180

8 SubmittersRCV000696394 RCV001784326 RCV004026376 RCV005046950

NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)

SNV
Germline

Chr6:109792591

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Multiple Submitters
No Conflicts

CA365217118

rs_1554309093

3 SubmittersRCV000687842 RCV003144493 RCV003447154

NM_001005373.4(LRSAM1):c.1043+2T>G

SNV
Germline

Chr9:127479980

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374931662

rs_746455518

1 SubmittersRCV000700711

NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)

SNV
Germline

Chr12:57516312

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
not specified

Criteria Provided
Conflicting Classifications

CA6650877

rs_773914259

2 SubmittersRCV000698209 RCV005372408

NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)

SNV
Germline

Chr11:62705346

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6053617

rs_370905417

5 SubmittersRCV000690113 RCV002397389 RCV002485632 RCV005054247 RCV005431878

NM_002180.3(IGHMBP2):c.257-2A>G

SNV
Germline

Chr11:68908143

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

CA381642994

rs_1566424655

1 SubmittersRCV000704215

NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)

SNV
Germline

Chr14:101985853

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351723

rs_780247153

2 SubmittersRCV000696405

NM_030962.4(SBF2):c.4443+1G>A

SNV
Germline

Chr11:9807999

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379639131

rs_1564872328

1 SubmittersRCV000686834

NM_022489.4(INF2):c.221T>G (p.Leu74Arg)

SNV
Germline

Chr14:104701586

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391225536

rs_1566777566

2 SubmittersRCV000693758 RCV005645156

NM_022489.4(INF2):c.799G>A (p.Asp267Asn)

SNV
Germline

Chr14:104706132

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372426

rs_772599038

3 SubmittersRCV000688375 RCV005409718

NM_022489.4(INF2):c.916C>T (p.Arg306Cys)

SNV
Germline

Chr14:104706982

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372464

rs_542700662

3 SubmittersRCV000700172 RCV002442495 RCV006278032

NM_030962.4(SBF2):c.1297-2A>G

SNV
Germline

Chr11:9989597

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA5881862

rs_752649372

1 SubmittersRCV000706139

NM_022489.4(INF2):c.2489G>T (p.Gly830Val)

SNV
Germline

Chr14:104711699

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7372946

rs_377340315

5 SubmittersRCV000703255 RCV002424698 RCV003133561 RCV005056455

NM_022489.4(INF2):c.2804C>T (p.Ala935Val)

SNV
Germline

Chr14:104713235

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373092

rs_781494318

3 SubmittersRCV000706310 RCV002440545

NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)

SNV
Germline

Chr14:104714244

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7373177

rs_369987125

4 SubmittersRCV000700350 RCV001548362 RCV002319561 RCV006265230

NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)

SNV
Germline

Chr12:109792747

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780108

rs_140535889

5 SubmittersRCV000706756 RCV001111685 RCV001111686 RCV001111687 RCV001111688 RCV001111689 RCV002397486 RCV005418318 RCV006435099

NM_021625.5(TRPV4):c.935C>T (p.Ala312Val)

SNV
Germline

Chr12:109798831

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA6780385

rs_751139506

2 SubmittersRCV000699390

NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp)

SNV
Germline

Chr10:62813286

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5517151

rs_138967272

3 SubmittersRCV000691159 RCV001173238 RCV001756179

NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)

SNV
Germline

Chr12:119179326

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2L
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2L
Neuronopathy, distal hereditary motor, type 2A
Neuronopathy, distal hereditary motor, type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6819480

rs_146900850

6 SubmittersRCV000687583 RCV000761844 RCV000763796 RCV001109055 RCV002388208

NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu)

SNV
Germline

Chr7:30628575

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
See cases

Criteria Provided
Conflicting Classifications

CA156058559

rs_764238525

4 SubmittersRCV000699409 RCV001811449 RCV004629306 RCV004797859

NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)

SNV
Germline

Chr12:57512810

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
not specified

Criteria Provided
Conflicting Classifications

CA6650629

rs_139600659

2 SubmittersRCV000688475 RCV004026297

NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)

SNV
Germline

Chr15:44563204

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7533841

rs_371313584

4 SubmittersRCV000685566 RCV001584551 RCV002467995 RCV002467996 RCV002369821

NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)

SNV
Germline

Chr15:44657201

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535727

rs_139091750

5 SubmittersRCV000696904 RCV001799700 RCV002468012 RCV002468013 RCV002388274

NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)

SNV
Germline

Chr11:68914902

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA6153396

rs_777575504

5 SubmittersRCV000700554 RCV002422564 RCV003133554 RCV005431894

NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)

SNV
Germline

Chr11:68914937

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA381644438

rs_1566430156

2 SubmittersRCV000692478

NM_016156.6(MTMR2):c.804+1G>C

SNV
Germline

Chr11:95850599

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA382425669

rs_1565351898

1 SubmittersRCV000699617

NM_030962.4(SBF2):c.2081C>T (p.Ala694Val)

SNV
Germline

Chr11:9858245

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4B2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5881652

rs_141368249

4 SubmittersRCV000704908 RCV002422597 RCV003483713 RCV006440037

NM_021625.5(TRPV4):c.1392C>T (p.Arg464=)

SNV
Germline

Chr12:109794428

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
TRPV4-related bone disorder
Neuronopathy, distal hereditary motor, autosomal dominant 8

Criteria Provided
Conflicting Classifications

CA6780252

rs_182609216

3 SubmittersRCV000702979 RCV002261193 RCV005863256

NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)

SNV
Germline

Chr14:101964783

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266961870

rs_1043956265

3 SubmittersRCV000705622 RCV001662779 RCV002369961

NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)

SNV
Germline

Chr14:101964788

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA266961884

rs_903873576

2 SubmittersRCV000707155 RCV003327453

NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)

SNV
Germline

Chr14:102042731

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
DYNC1H1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7353939

rs_202107738

5 SubmittersRCV000689884 RCV001200094 RCV003243257 RCV004745552 RCV005240472

NM_022489.4(INF2):c.1966G>A (p.Ala656Thr)

SNV
Germline

Chr14:104709297

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372768

rs_189559257

4 SubmittersRCV000703550 RCV001548052 RCV005407903 RCV004026632

NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)

SNV
Germline

Chr9:127483014

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5246855

rs_373570877

5 SubmittersRCV000701520 RCV002343536 RCV003480789

NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)

SNV
Germline

Chr14:102048594

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7354202

rs_749297332

3 SubmittersRCV000685547 RCV002386162 RCV005436009

NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)

SNV
Germline

Chr14:102050157

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7354353

rs_765362140

3 SubmittersRCV000704680 RCV002386268 RCV003314639

NM_022489.4(INF2):c.409G>A (p.Val137Met)

SNV
Germline

Chr14:104703122

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372296

rs_200713451

5 SubmittersRCV000690750 RCV000735727 RCV004629298

NM_022489.4(INF2):c.2801C>T (p.Ala934Val)

SNV
Germline

Chr14:104713232

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA267330011

rs_1001885245

2 SubmittersRCV000699492

NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)

SNV
Germline

Chr15:44584410

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
not specified

Criteria Provided
Conflicting Classifications

CA7534436

rs_139423939

6 SubmittersRCV000686533 RCV000995317 RCV002343435 RCV002467999 RCV002468000 RCV006452838

NM_000264.5(PTCH1):c.1068C>T (p.Ser356=)

SNV
Germline

Chr9:95479147

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA196595042

rs_1051875027

3 SubmittersRCV000704390 RCV001017180 RCV005626167

NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)

SNV
Germline

Chr15:44574939

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534300

rs_199920965

5 SubmittersRCV000685460 RCV002352108 RCV002493138 RCV004768553

NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)

SNV
Germline

Chr15:44584209

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7534402

rs_752401008

7 SubmittersRCV000692442 RCV000765211 RCV002468006 RCV003223668 RCV002468005

NM_001136472.2(LITAF):c.25G>A (p.Ala9Thr)

SNV
Germline

Chr16:11556706

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA394768894

rs_1267030887

2 SubmittersRCV000694401 RCV002424648

NM_001005361.3(DNM2):c.535A>G (p.Met179Val)

SNV
Germline

Chr19:10775852

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9200815

rs_748887276

3 SubmittersRCV000704893 RCV003482300 RCV004619399

NM_001605.3(AARS1):c.2595C>T (p.Gly865=)

SNV
Germline

Chr16:70253726

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283424077

rs_751781504

3 SubmittersRCV000693392 RCV002462032 RCV006272397

NM_001605.3(AARS1):c.817-1G>A

SNV
Germline

Chr16:70269764

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Developmental and epileptic encephalopathy, 29

Criteria Provided
Multiple Submitters
No Conflicts

CA283440158

rs_866662905

3 SubmittersRCV000697803 RCV002462037 RCV006459828

NM_181882.3(PRX):c.231C>G (p.Tyr77Ter)

SNV
Germline

Chr19:40398770

Pathogenic

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA9444529

rs_752192677

2 SubmittersRCV000696663 RCV002442477

NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn)

SNV
Germline

Chr11:68908165

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153248

rs_200897747

4 SubmittersRCV000686666 RCV000856962 RCV001592864 RCV004026242

NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)

SNV
Germline

Chr11:68929278

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Distal spinal muscular atrophy
Condition: not provided
Inborn genetic diseases
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6153535

rs_759641927

7 SubmittersRCV000695581 RCV000790271 RCV001784325 RCV003243261 RCV003147534

NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)

SNV
Germline

Chr11:68933892

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

CA381650252

rs_556292818

1 SubmittersRCV000696268

NM_002180.3(IGHMBP2):c.1633-2A>G

SNV
Germline

Chr11:68935297

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381650994

rs_1566445029

2 SubmittersRCV000695071 RCV005860131

NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)

SNV
Germline

Chr11:68937055

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381654038

rs_1373247548

1 SubmittersRCV000685957

NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)

SNV
Germline

Chr11:9832350

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA5881240

rs_774667470

1 SubmittersRCV000704934

NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter)

SNV
Germline

Chr11:9858375

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379642484

rs_1564923441

1 SubmittersRCV000696789

NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)

SNV
Germline

Chr12:109793930

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Spondylometaphyseal dysplasia, Kozlowski type
Neuronopathy, distal hereditary motor, autosomal dominant 8
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780183

rs_142749412

5 SubmittersRCV000701000 RCV001112237 RCV001112238 RCV001112239 RCV001112240 RCV001113588 RCV002397450 RCV003117496

NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)

SNV
Germline

Chr12:109794355

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Brachyrachia (short spine dysplasia)
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia

Criteria Provided
Conflicting Classifications

CA6780234

rs_758280554

2 SubmittersRCV000707444 RCV001111861 RCV001111862 RCV001111860 RCV001112323 RCV001111859

NM_021625.5(TRPV4):c.915G>A (p.Thr305=)

SNV
Germline

Chr12:109798851

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA481867528

rs_1565870990

2 SubmittersRCV000688601 RCV002369846

NM_021625.5(TRPV4):c.746G>A (p.Arg249His)

SNV
Germline

Chr12:109800725

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780432

rs_771294425

5 SubmittersRCV000698984 RCV001173244 RCV001508339 RCV002388293

NM_001005361.3(DNM2):c.1463C>G (p.Thr488Arg)

SNV
Germline

Chr19:10802328

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Multiple Submitters
No Conflicts

CA404049789

rs_746903992

2 SubmittersRCV000703690

NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu)

SNV
Germline

Chr19:10829082

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201524

rs_745382488

4 SubmittersRCV000697538 RCV003144540

NM_000166.6(GJB1):c.529G>A (p.Val177Met)

SNV
Germline

ChrX:71224236

Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413502996

rs_1569215351

3 SubmittersRCV000691854 RCV000789941 RCV005231278

NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)

SNV
Germline

ChrX:71224247

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413503066

rs_771022595

4 SubmittersRCV000701205 RCV000991855 RCV000789922

NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)

SNV
Germline

Chr14:102015283

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA267006179

rs_912429154

5 SubmittersRCV000696436 RCV001109011 RCV001585637 RCV002369895

NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)

SNV
Germline

Chr14:102027679

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391011110

rs_769817685

2 SubmittersRCV000690975 RCV006342482

NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)

SNV
Germline

Chr14:102033145

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391022455

rs_1567019064

1 SubmittersRCV000693395

NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)

SNV
Germline

Chr14:104708511

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372681

rs_752971046

3 SubmittersRCV000692978 RCV002406577

NM_181882.3(PRX):c.4108C>A (p.Arg1370Ser)

SNV
Germline

Chr19:40394244

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443699

rs_371438221

2 SubmittersRCV000691308 RCV002325381

NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)

SNV
Germline

Chr19:40396962

Pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Multiple Submitters
No Conflicts

CA9444273

rs_574861276

3 SubmittersRCV000703893 RCV001811452 RCV006440033

NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)

SNV
Germline

Chr15:44567580

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
SPG11-related disorder
Early-onset Parkinson disease 20
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA7534064

rs_141263564

10 SubmittersRCV000694024 RCV001849059 RCV003411614 RCV003447554 RCV003883160 RCV004792389 RCV004768574

NM_030973.4(MED25):c.1786G>A (p.Val596Ile)

SNV
Germline

Chr19:49835766

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9585381

rs_369707406

4 SubmittersRCV000697597 RCV004692151 RCV004723097 RCV005659958

NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)

SNV
Germline

Chr22:30934908

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10186778

rs_560948457

3 SubmittersRCV000692860 RCV002422503 RCV004702329

NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)

SNV
Germline

Chr22:30950416

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10187353

rs_748092969

3 SubmittersRCV000705875 RCV001572125

NM_000166.6(GJB1):c.100A>G (p.Met34Val)

SNV
Germline

ChrX:71223807

Pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413500925

rs_1569215061

3 SubmittersRCV000684965 RCV000789244 RCV001172018

NM_000166.6(GJB1):c.584T>C (p.Leu195Pro)

SNV
Germline

ChrX:71224291

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA413503233

rs_1569215413

2 SubmittersRCV000700136 RCV001198205

NM_000304.4(PMP22):c.409A>G (p.Ile137Val)

SNV
Germline

Chr17:15230991

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8403304

rs_755551524

2 SubmittersRCV000693840 RCV004025170

NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys)

SNV
Germline

Chr17:42543979

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399605696

rs_1230894568

1 SubmittersRCV000693826

NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)

SNV
Germline

Chr20:10649089

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764891

rs_534533867

3 SubmittersRCV000694563 RCV000732141 RCV002477575

NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)

SNV
Germline

ChrX:71224099

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413502149

rs_1555937166

3 SubmittersRCV000789284 RCV000698825 RCV002249416

NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)

SNV
Germline

Chr1:156864394

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1168867

rs_543320028

7 SubmittersRCV000789505 RCV000986439 RCV001585661 RCV002424729

NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)

SNV
Germline

Chr1:11996311

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA338435198

rs_1557521949

6 SubmittersRCV000711276 RCV000790014 RCV001300262 RCV002307605 RCV002334403

NM_014874.4(MFN2):c.711A>T (p.Glu237Asp)

SNV
Germline

Chr1:11998990

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA338438835

rs_1557525000

3 SubmittersRCV000711277 RCV000810083

NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)

SNV
Germline

Chr1:156114983

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
11 conditions
Dilated cardiomyopathy 1A
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA30999069

rs_1016767319

7 SubmittersRCV000712226 RCV001798969 RCV001318123 RCV002477648 RCV003147538 RCV003999795 RCV005348205

NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)

SNV
Germline

Chr1:161306853

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
MPZ-related disorder
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA343349510

rs_1558154149

6 SubmittersRCV000712316 RCV001173693 RCV002469277 RCV002532930 RCV003165947

NM_000530.8(MPZ):c.293G>T (p.Arg98Leu)

SNV
Germline

Chr1:161306863

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA343349605

rs_121913589

3 SubmittersRCV000712315 RCV001377518

NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)

SNV
Germline

Chr7:30633799

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4206173

rs_530891983

4 SubmittersRCV000711742 RCV001334992 RCV002233728 RCV004026810

NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)

SNV
Germline

Chr14:102042688

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7353935

rs_200375220

6 SubmittersRCV000711522 RCV001078721 RCV001111748 RCV002388354 RCV004745563

NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr)

SNV
Germline

Chr19:10812351

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201320

rs_144763522

4 SubmittersRCV000711483 RCV001220061 RCV003165944

NM_014874.4(MFN2):c.334G>A (p.Val112Met)

SNV
Germline

Chr1:11996178

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Peripheral neuropathy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA598809

rs_757937208

7 SubmittersRCV000714526 RCV001836873 RCV001862000 RCV003988854 RCV004026833

NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val)

SNV
Germline

Chr14:101986513

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA391022660

rs_1358924141

4 SubmittersRCV000810070 RCV001772019 RCV002318237 RCV004594110

NM_001376.5(DYNC1H1):c.13106C>T (p.Thr4369Met)

SNV
Germline

Chr14:102047916

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391046152

rs_1290022379

3 SubmittersRCV001772020 RCV002318335 RCV003528222

NM_001376.5(DYNC1H1):c.623C>T (p.Pro208Leu)

SNV
Germline

Chr14:101979823

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351557

rs_556010695

2 SubmittersRCV002060944 RCV002318131

NM_001376.5(DYNC1H1):c.4231C>T (p.Arg1411Cys)

SNV
Germline

Chr14:102001190

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391040156

rs_1567006266

2 SubmittersRCV002313562 RCV002534557

NM_001376.5(DYNC1H1):c.10292A>G (p.Asn3431Ser)

SNV
Germline

Chr14:102033363

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353388

rs_764127291

2 SubmittersRCV002314487 RCV002534548

NM_001376.5(DYNC1H1):c.12788G>A (p.Arg4263His)

SNV
Germline

Chr14:102044377

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354034

rs_762441496

2 SubmittersRCV001347479 RCV002312321

NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)

SNV
Germline

Chr17:42536581

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399596038

rs_1567890328

2 SubmittersRCV000721982 RCV003768167

NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg)

SNV
Germline

Chr1:156137006

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA342822754

rs_1558132909

3 SubmittersRCV000727585 RCV001213786 RCV005870824

NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)

SNV
Germline

Chr20:10644379

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764529

rs_760470297

4 SubmittersRCV000728261 RCV001037675 RCV002442550 RCV005027897

NM_021625.5(TRPV4):c.2247C>T (p.Pro749=)

SNV
Germline

Chr12:109786799

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6779979

rs_141135321

3 SubmittersRCV000728401 RCV001413455 RCV002424741

NM_170707.4(LMNA):c.1827A>T (p.Gly609=)

SNV
Germline

Chr1:156138616

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA421258012

rs_1558135172

3 SubmittersRCV000729234 RCV001443776 RCV002406662

NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)

SNV
Germline

Chr20:10673526

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA311357585

rs_1026004197

5 SubmittersRCV000729658 RCV001270881 RCV002499351 RCV004547925

NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)

SNV
Germline

Chr20:10639517

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764169

rs_138007561

5 SubmittersRCV000729669 RCV001226725 RCV002485869 RCV004740434

NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr)

SNV
Germline

Chr1:156136422

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342822243

rs_267607599

2 SubmittersRCV000729830 RCV001862185

NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)

SNV
Germline

Chr20:10649561

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764918

rs_758876727

4 SubmittersRCV000730832 RCV001855645 RCV002493329 RCV005582417

NM_170707.4(LMNA):c.1968+37C>T

SNV
Germline

Chr1:156138794

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
11 conditions

Criteria Provided
Conflicting Classifications

CA051810

rs_555070042

3 SubmittersRCV000731456 RCV002067118 RCV005046993

NM_170707.4(LMNA):c.640-52C>T

SNV
Germline

Chr1:156134753

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
not specified
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA31011218

rs_41314033

7 SubmittersRCV000731588 RCV001511690 RCV001700299 RCV004540059

NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)

SNV
Germline

Chr19:40395242

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443918

rs_148600818

6 SubmittersRCV000732537 RCV001078730 RCV002325450

NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)

SNV
Germline

Chr20:10639631

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA311367334

rs_918046091

6 SubmittersRCV000733299 RCV001057425 RCV002458350 RCV004547936 RCV005027915

NM_001376.5(DYNC1H1):c.13509G>T (p.Glu4503Asp)

SNV
Germline

Chr14:102049576

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391049645

rs_1304570979

2 SubmittersRCV000733889 RCV001855793

NM_000399.5(EGR2):c.665T>C (p.Met222Thr)

SNV
Germline

Chr10:62813973

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5517248

rs_530614586

6 SubmittersRCV000734025 RCV001079407 RCV002360861 RCV004800565

NM_022489.4(INF2):c.1198G>A (p.Ala400Thr)

SNV
Germline

Chr14:104707465

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA391216091

rs_1364649058

2 SubmittersRCV000734440 RCV005225110

NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)

SNV
Germline

Chr20:10641597

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764395

rs_770415804

4 SubmittersRCV000734627 RCV002440583 RCV002536524 RCV005029400

NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)

SNV
Germline

Chr20:10672840

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9765191

rs_376092818

4 SubmittersRCV000734693 RCV002424747 RCV002485942 RCV003768246

NM_002437.5(MPV17):c.461+2T>C

SNV
Germline

Chr2:27311897

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE
MPV17-related disorder
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA1575504

rs_138199394

6 SubmittersRCV000734726 RCV003465670 RCV004723149 RCV005029401

NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)

SNV
Germline

Chr20:10640855

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408244082

rs_1278689263

4 SubmittersRCV000734924 RCV001340733 RCV002493364 RCV004027097

NM_170707.4(LMNA):c.1530C>T (p.Thr510=)

SNV
Germline

Chr1:156137154

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050588

rs_138098342

4 SubmittersRCV000735004 RCV001088060 RCV002397519 RCV003532253

NM_022489.4(INF2):c.217G>A (p.Gly73Ser)

SNV
Germline

Chr14:104701582

Pathogenic

Focal segmental glomerulosclerosis 5
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA391225522

rs_1566777560

3 SubmittersRCV000735730 RCV001539491 RCV002493369

NM_022489.4(INF2):c.550G>A (p.Glu184Lys)

SNV
Germline

Chr14:104703337

Pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA391213247

rs_1566778676

5 SubmittersRCV000735726 RCV000790332 RCV001535996

NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)

SNV
Germline

Chr8:81444908

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, demyelinating, type 1G
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371518056

rs_1563518388

7 SubmittersRCV000736031 RCV001267025 RCV002535440

NM_002677.5(PMP2):c.151A>C (p.Thr51Pro)

SNV
Germline

Chr8:81444912

Pathogenic

Charcot-Marie-Tooth disease, demyelinating, type 1G

No Assertion Criteria Provided

CA371518074

rs_1563518390

1 SubmittersRCV000736032

NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)

SNV
Germline

Chr10:69380082

Likely pathogenic

Neurodevelopmental disorder with visual defects and brain anomalies
Neurodevelopmental abnormality
Charcot-Marie-Tooth disease type 4G

Criteria Provided
Multiple Submitters
No Conflicts

CA376917783

rs_1564557037

3 SubmittersRCV000850127 RCV000782118 RCV001805835

NM_007289.4(MME):c.1666C>T (p.Pro556Ser)

SNV
Unknown

Chr3:155166907

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

CA355218106

rs_1559961997

1 SubmittersRCV000754741

NM_007289.4(MME):c.1972G>A (p.Ala658Thr)

SNV
Unknown

Chr3:155168789

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

CA355218798

rs_1559963660

1 SubmittersRCV000754742

NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)

SNV
Unknown

Chr10:12097868

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Q

Criteria Provided
Single Submitter

CA376021518

rs_762729182

1 SubmittersRCV000754752

NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)

SNV
Germline

Chr11:68933390

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified

Criteria Provided
Conflicting Classifications

CA6153604

rs_751549678

6 SubmittersRCV000754729 RCV001173330 RCV002533772 RCV005407934

NM_021629.4(GNB4):c.659A>G (p.Gln220Arg)

SNV
Germline

Chr3:179413452

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate F

No Assertion Criteria Provided

CA2712449

rs_199615251

1 SubmittersRCV000754761

NM_000166.6(GJB1):c.590C>T (p.Ala197Val)

SNV
Germline

ChrX:71224297

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA413503246

rs_1569215418

2 SubmittersRCV000755014 RCV000789880

NM_022489.4(INF2):c.311G>A (p.Cys104Tyr)

SNV
Unknown

Chr14:104701676

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate E

No Assertion Criteria Provided

CA391225853

rs_387907035

1 SubmittersRCV000755018

NM_000166.6(GJB1):c.394T>C (p.Trp132Arg)

SNV
Germline

ChrX:71224101

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA413502154

rs_1569215263

2 SubmittersRCV000755048 RCV000789878

NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=)

SNV
Germline

Chr1:6473413

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Conflicting Classifications

CA415833836

rs_1365704916

2 SubmittersRCV000756550 RCV003768268

NM_018972.4(GDAP1):c.767A>G (p.His256Arg)

SNV
Germline

Chr8:74364057

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA371550138

rs_1476856429

8 SubmittersRCV000757324 RCV000789787 RCV000820420 RCV002485966 RCV003447159 RCV004027140

NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)

SNV
Germline

Chr11:62691351

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Severe neurodegenerative syndrome with lipodystrophy
Inborn genetic diseases
BSCL2-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6053405

rs_754683462

6 SubmittersRCV000755880 RCV001071687 RCV002493373 RCV003166002 RCV004754555 RCV005626194

NM_016156.6(MTMR2):c.1106T>C (p.Ile369Thr)

SNV
Germline

Chr11:95847787

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6240101

rs_200083635

3 SubmittersRCV000757482 RCV001415226 RCV002424752

NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=)

SNV
Germline

Chr14:102017424

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA7352933

rs_772002773

3 SubmittersRCV000756048 RCV001082695 RCV006436894

NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr17:15239483

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA398267408

rs_1567704621

3 SubmittersRCV000756558 RCV000790162 RCV006464142

NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)

SNV
Germline

Chr22:50454590

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3
Tip-toe gait
not specified

Criteria Provided
Conflicting Classifications

CA10316066

rs_147869659

10 SubmittersRCV000757732 RCV001332204 RCV002225116 RCV004027153

NM_005391.5(PDK3):c.304C>T (p.Pro102Ser)

SNV
Germline

ChrX:24498884

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 6
not specified

Criteria Provided
Conflicting Classifications

CA10372264

rs_375475050

4 SubmittersRCV000756466 RCV002533789 RCV004027127

NM_030973.4(MED25):c.556C>T (p.Arg186Trp)

SNV
Germline

Chr19:49829816

Conflicting classifications of pathogenicity

Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Charcot-Marie-Tooth disease
Neurodevelopmental delay
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA9584913

rs_776291104

4 SubmittersRCV000758140 RCV001174290 RCV002274097 RCV002533814

NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr1:156876571

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA1169474

rs_763758904

7 SubmittersRCV000760429 RCV000789608 RCV001222355

NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)

SNV
Germline

Chr11:68933399

Pathogenic/Likely pathogenic

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6153608

rs_372181708

6 SubmittersRCV000760424 RCV000789344 RCV000791593 RCV000826144 RCV003994106

NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)

SNV
Germline

Chr15:44570593

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
See cases
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA7534139

rs_769898852

8 SubmittersRCV000760765 RCV001198712 RCV002287441 RCV005012290 RCV004788159

NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)

SNV
Germline

ChrX:71224340

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413503379

rs_1569215443

3 SubmittersRCV000760373 RCV000789956 RCV003447160

NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter)

SNV
Unknown

Chr11:95836150

Pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

CA382413679

rs_1565342506

1 SubmittersRCV000761540

NM_024577.4(SH3TC2):c.3363G>A (p.Ala1121=)

SNV
Germline

Chr5:149008966

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3498757

rs_547035706

3 SubmittersRCV000762171 RCV002536585

NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=)

SNV
Germline

Chr5:149012638

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3498839

rs_768044718

3 SubmittersRCV000762173 RCV001048317

NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp)

SNV
Germline

Chr5:149027475

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499037

rs_530824367

6 SubmittersRCV000762174 RCV000802982 RCV001173161 RCV002442570

NM_004990.4(MARS1):c.1908G>A (p.Thr636=)

SNV
Germline

Chr12:57512905

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA6650647

rs_529046133

3 SubmittersRCV000761834 RCV002533885 RCV005897336

NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)

SNV
Germline

Chr16:70268366

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Peripheral neuropathy
Charcot-Marie-Tooth disease axonal type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140959

rs_777601008

6 SubmittersRCV000761940 RCV000809951 RCV001731192 RCV001805843 RCV002462124

NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)

SNV
Germline

Chr17:42541185

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA8576913

rs_749140168

3 SubmittersRCV000761953 RCV001855946 RCV001580139

NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)

SNV
Germline

Chr17:42544050

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA399605981

rs_1567894363

2 SubmittersRCV000761955 RCV003768294

NM_001303256.3(MORC2):c.1128C>A (p.His376Gln)

SNV
Germline

Chr22:30938151

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Conflicting Classifications

CA411239429

rs_1424834448

2 SubmittersRCV000762066 RCV005092197

NM_002972.4(SBF1):c.5471G>A (p.Arg1824His)

SNV
Germline

Chr22:50447434

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3
not specified

Criteria Provided
Conflicting Classifications

CA10315820

rs_202149945

7 SubmittersRCV000762081 RCV001000629 RCV004027195

NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=)

SNV
Germline

Chr14:101980504

Conflicting classifications of pathogenicity

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA487965800

rs_1566996726

3 SubmittersRCV000768202 RCV001196027

NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)

SNV
Germline

Chr14:102040351

Conflicting classifications of pathogenicity

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Condition: not provided
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353728

rs_780676515

5 SubmittersRCV000767952 RCV001662807 RCV002275155 RCV001855967 RCV002332545

NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)

SNV
Germline

Chr14:102041716

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA487968826

rs_1446298826

2 SubmittersRCV000767953 RCV002533927

NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=)

SNV
Germline

Chr14:102042102

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353850

rs_114906811

2 SubmittersRCV000767954 RCV002067207

NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)

SNV
Germline

Chr2:27313058

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, axonal, type 2EE
Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
MPV17-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1575667

rs_140992482

15 SubmittersRCV000768421 RCV000792530 RCV002279731 RCV003226382 RCV003227501 RCV004733041

NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg)

SNV
Germline

Chr11:68929324

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S

No Assertion Criteria Provided

CA381647789

rs_1566439723

1 SubmittersRCV000768428

NM_170707.4(LMNA):c.937-8C>G

SNV
Germline

Chr1:156135893

Conflicting classifications of pathogenicity

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054893

rs_751707982

6 SubmittersRCV000774196 RCV001456120 RCV001796209 RCV001796210 RCV003231611

NM_024577.4(SH3TC2):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr5:149041417

Likely pathogenic

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361674224

rs_1463786931

1 SubmittersRCV005036104

NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)

SNV
Germline

Chr7:76302962

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
HSPB1-related disorder
Neuronopathy, distal hereditary motor, type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA367763201

rs_770272088

7 SubmittersRCV000789964 RCV001268008 RCV001873176 RCV004527794 RCV005409734

NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter)

SNV
Germline

Chr11:9993950

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565106242

2 SubmittersRCV005410304 RCV006567503

NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)

SNV
Germline

Chr17:42543906

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis
NAGLU-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA290781124

rs_147036053

7 SubmittersRCV000779220 RCV000806351 RCV001030810 RCV003396352 RCV005241400

NM_170707.4(LMNA):c.639+1G>A

SNV
Germline

Chr1:156134529

Likely pathogenic

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342817103

rs_869125101

3 SubmittersRCV000781511 RCV000797832 RCV004702414

NM_022489.4(INF2):c.640C>T (p.Arg214Cys)

SNV
Germline

Chr14:104703427

Pathogenic/Likely pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA267318974

rs_912928648

8 SubmittersRCV000786896 RCV000790333 RCV001387301 RCV004813139 RCV005851603 RCV006249687

NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)

SNV
Unknown

Chr1:161306758

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate D

Criteria Provided
Single Submitter

CA343348684

rs_1558154010

1 SubmittersRCV000787935

NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)

SNV
Germline

Chr1:156134507

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342817050

rs_267607629

2 SubmittersRCV000788205 RCV002535769

NM_170707.4(LMNA):c.639+9T>C

SNV
Germline

Chr1:156134537

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA053923

rs_745768694

2 SubmittersRCV000788525 RCV001501103

NM_014874.4(MFN2):c.221A>G (p.Gln74Arg)

SNV
Germline

Chr1:11992600

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA338461803

rs_1569815882

3 SubmittersRCV000789412 RCV001091325 RCV001856235

NM_014874.4(MFN2):c.239G>T (p.Gly80Val)

SNV
Germline

Chr1:11992618

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA598781

rs_139827903

4 SubmittersRCV000789374 RCV001873221 RCV003480817

NM_014874.4(MFN2):c.275T>C (p.Leu92Pro)

SNV
Germline

Chr1:11992654

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338462142

rs_1569816285

2 SubmittersRCV000790024 RCV001064640

NM_014874.4(MFN2):c.280C>G (p.Arg94Gly)

SNV
Germline

Chr1:11992659

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA338462161

rs_119103263

4 SubmittersRCV000789702 RCV001091326 RCV001206471

NM_014874.4(MFN2):c.311G>A (p.Arg104Gln)

SNV
Germline

Chr1:11992690

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA338462489

rs_863224068

3 SubmittersRCV001312063 RCV000789375

NM_014874.4(MFN2):c.322G>A (p.Gly108Arg)

SNV
Germline

Chr1:11996166

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

No Assertion Criteria Provided

CA338433913

rs_1569829573

2 SubmittersRCV000790317 RCV003234565

NM_014874.4(MFN2):c.383A>G (p.His128Arg)

SNV
Germline

Chr1:11996227

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA338434515

rs_1569829894

2 SubmittersRCV000790013 RCV004702418

NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr)

SNV
Germline

Chr1:11996239

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338434628

rs_1569830013

2 SubmittersRCV000789415 RCV001856236

NM_014874.4(MFN2):c.605G>C (p.Gly202Ala)

SNV
Germline

Chr1:11998775

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA338437692

rs_1569842143

2 SubmittersRCV003456430 RCV000790042

NM_014874.4(MFN2):c.669T>A (p.Phe223Leu)

SNV
Germline

Chr1:11998839

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438282

rs_1440006845

2 SubmittersRCV000789389 RCV003581716

NM_014874.4(MFN2):c.692C>T (p.Ser231Phe)

SNV
Germline

Chr1:11998862

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338438518

rs_1569842714

3 SubmittersRCV000790036 RCV001232114 RCV001726329

NM_014874.4(MFN2):c.742C>G (p.Leu248Val)

SNV
Germline

Chr1:11999021

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338439079

rs_1569843694

3 SubmittersRCV000789703 RCV001248236 RCV005624169

NM_014874.4(MFN2):c.752C>T (p.Pro251Leu)

SNV
Germline

Chr1:11999031

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338439122

rs_1557525153

2 SubmittersRCV000790328 RCV001377874

NM_014874.4(MFN2):c.776G>T (p.Arg259Leu)

SNV
Germline

Chr1:11999055

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338439249

rs_755065651

3 SubmittersRCV000789362 RCV000796767 RCV005601107

NM_014874.4(MFN2):c.821G>A (p.Arg274Gln)

SNV
Germline

Chr1:12001405

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA598949

rs_768407445

3 SubmittersRCV000789390 RCV002536915 RCV004719985

NM_014874.4(MFN2):c.922G>T (p.Glu308Ter)

SNV
Germline

Chr1:12001506

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338441878

rs_1553143852

3 SubmittersRCV000790040 RCV001380591 RCV003222129

NM_014874.4(MFN2):c.1081C>T (p.His361Tyr)

SNV
Germline

Chr1:12002024

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338442849

rs_1569854012

2 SubmittersRCV000789419 RCV001204495

NM_014874.4(MFN2):c.1127T>C (p.Met376Thr)

SNV
Germline

Chr1:12002070

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338443173

rs_1569854342

5 SubmittersRCV000790027 RCV001049066 RCV001091328

NM_014874.4(MFN2):c.1127T>G (p.Met376Arg)

SNV
Germline

Chr1:12002070

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338443181

rs_1569854342

3 SubmittersRCV000789378 RCV001869222 RCV004997312

NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro)

SNV
Germline

Chr1:12002075

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Conflicting Classifications

CA338443222

rs_1569854381

3 SubmittersRCV000790009 RCV001288127 RCV005870874

NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro)

SNV
Germline

Chr1:12004030

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA338444926

rs_138072432

3 SubmittersRCV000789366 RCV001809803 RCV006464246

NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)

SNV
Germline

Chr1:12007217

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338451655

rs_1569871830

2 SubmittersRCV000789075 RCV001215422

NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro)

SNV
Germline

Chr1:12009642

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338453099

rs_375937289

2 SubmittersRCV000790047 RCV001247103

NM_014874.4(MFN2):c.2213C>T (p.Ala738Val)

SNV
Germline

Chr1:12011504

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA338453832

rs_1569889919

4 SubmittersRCV000789368 RCV001726327 RCV001856234

NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys)

SNV
Germline

Chr1:156879276

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA1169521

rs_764992664

6 SubmittersRCV000789609 RCV001381359

NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu)

SNV
Germline

Chr1:156881554

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

CA1169628

rs_756981419

3 SubmittersRCV000789685 RCV000820283

NM_002529.4(NTRK1):c.2308C>T (p.Gln770Ter)

SNV
Germline

Chr1:156881559

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

CA1169629

rs_764816792

2 SubmittersRCV000789507 RCV002535803

NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)

SNV
Germline

Chr1:161305942

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease dominant intermediate D

Criteria Provided
Multiple Submitters
No Conflicts

CA343344322

rs_1571817146

4 SubmittersRCV000789450 RCV001093011 RCV002535801 RCV003152732

NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)

SNV
Germline

Chr1:161305944

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343344343

rs_1571817154

2 SubmittersRCV000790108 RCV003581729

NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)

SNV
Germline

Chr1:161306451

Pathogenic

Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Single Submitter

CA343346538

rs_1571818312

2 SubmittersRCV000789468 RCV002334462

NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)

SNV
Germline

Chr1:161306721

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343348235

rs_1571818632

3 SubmittersRCV000790094 RCV001233191

NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr1:161306735

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Single Submitter

CA343348492

rs_1456458087

2 SubmittersRCV000789498 RCV004796314

NM_000530.8(MPZ):c.410G>T (p.Gly137Val)

SNV
Germline

Chr1:161306746

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343348569

rs_863225025

3 SubmittersRCV000790110 RCV002473137

NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)

SNV
Germline

Chr1:161306759

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343348705

rs_1553259648

3 SubmittersRCV000789457 RCV001552197 RCV002535802

NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)

SNV
Germline

Chr1:161306761

Pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA343348718

rs_1571818800

2 SubmittersRCV000789482 RCV004719986

NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)

SNV
Germline

Chr1:161306764

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343348748

rs_1571818819

2 SubmittersRCV000790100 RCV001385506

NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)

SNV
Germline

Chr1:161306776

Pathogenic/Likely pathogenic

Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343348880

rs_797044941

3 SubmittersRCV000789474 RCV002536917

NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)

SNV
Germline

Chr1:161306824

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Conflicting Classifications

CA343349292

rs_1553259663

3 SubmittersRCV000790122 RCV003889986

NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)

SNV
Germline

Chr1:161306827

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343349304

rs_1468741050

2 SubmittersRCV000789430 RCV003581717

NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)

SNV
Germline

Chr1:161306840

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Conflicting Classifications

CA343349401

rs_1571819084

4 SubmittersRCV000790114 RCV001061577 RCV002325494 RCV005409741

NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)

SNV
Germline

Chr1:161306853

Likely pathogenic

Charcot-Marie-Tooth disease
MPZ-related disorder

Criteria Provided
Single Submitter

CA343349506

rs_1558154149

2 SubmittersRCV000790087 RCV003317367

NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)

SNV
Germline

Chr1:161306860

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343349580

rs_1571819182

3 SubmittersRCV000789473 RCV000812847

NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)

SNV
Germline

Chr1:161306911

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343350020

rs_1553259707

2 SubmittersRCV000790097 RCV003581727

NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)

SNV
Germline

Chr1:161307281

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343350409

rs_573007540

2 SubmittersRCV000790085 RCV001869230

NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)

SNV
Germline

Chr1:161307284

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343350439

rs_1571819890

2 SubmittersRCV000790088 RCV001869231

NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)

SNV
Germline

Chr1:161307288

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343350514

rs_1571819906

2 SubmittersRCV000789716 RCV002536919

NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)

SNV
Germline

Chr1:161307292

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343350549

rs_201720099

2 SubmittersRCV000789443 RCV001856237

NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)

SNV
Germline

Chr1:161307295

Pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA343350582

rs_1571819946

2 SubmittersRCV000789715 RCV001662819

NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)

SNV
Germline

Chr1:161307298

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343350614

rs_1571819964

2 SubmittersRCV000790105 RCV003581728

NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)

SNV
Germline

Chr1:161307298

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343350603

rs_1571819964

4 SubmittersRCV000790308 RCV001390412 RCV002249496 RCV006436902

NM_000530.8(MPZ):c.173T>A (p.Val58Asp)

SNV
Germline

Chr1:161307319

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA343350862

rs_1571820049

3 SubmittersRCV000790089 RCV001198086 RCV002535812

NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)

SNV
Germline

Chr1:161307326

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA343350950

rs_1571820067

5 SubmittersRCV000790081 RCV001268254 RCV001364436 RCV002397561

NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)

SNV
Germline

Chr1:161307331

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343351048

rs_1571820092

3 SubmittersRCV000789437 RCV001224441 RCV003130036

NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)

SNV
Germline

Chr1:161307344

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343351204

rs_1571820143

2 SubmittersRCV000789464 RCV005092372

NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)

SNV
Germline

Chr1:161307349

Pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA343351247

rs_1571820161

2 SubmittersRCV000790059 RCV005411563

NM_000530.8(MPZ):c.142C>G (p.Leu48Val)

SNV
Germline

Chr1:161307350

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343351252

rs_1180998665

2 SubmittersRCV000789455 RCV001231857

NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)

SNV
Germline

Chr1:161307391

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type I
7 conditions

Criteria Provided
Conflicting Classifications

CA343351543

rs_1571820317

4 SubmittersRCV000789435 RCV002249492 RCV003581718 RCV005409737

NM_000530.8(MPZ):c.94G>T (p.Val32Phe)

SNV
Germline

Chr1:161307398

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA343351588

rs_1034932344

3 SubmittersRCV003311888 RCV000789622

NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)

SNV
Germline

Chr1:161307403

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343351618

rs_281865121

2 SubmittersRCV000789461 RCV001377519

NM_000530.8(MPZ):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:161309905

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343353400

rs_1427063795

3 SubmittersRCV000789714 RCV001323341 RCV002225729

NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile)

SNV
Germline

Chr3:128807625

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2B

Criteria Provided
Single Submitter

CA354709486

rs_121909080

2 SubmittersRCV000789556 RCV001386686

NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)

SNV
Germline

Chr5:131159460

Pathogenic

Charcot-Marie-Tooth disease
Autosomal recessive axonal neuropathy with neuromyotonia

Criteria Provided
Single Submitter

CA360838038

rs_1580682390

2 SubmittersRCV000789326 RCV001353157

NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr5:131159512

Pathogenic

Charcot-Marie-Tooth disease
Autosomal recessive axonal neuropathy with neuromyotonia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA127814746

rs_1028404937

3 SubmittersRCV000789324 RCV001215650 RCV001090290

NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter)

SNV
Germline

Chr5:149010276

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361664784

rs_1580889866

2 SubmittersRCV000789581 RCV001869226

NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)

SNV
Germline

Chr5:149026612

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA361665126

rs_147895061

3 SubmittersRCV000789580 RCV003147547 RCV005036122

NM_024577.4(SH3TC2):c.2674C>T (p.Gln892Ter)

SNV
Germline

Chr5:149027058

Pathogenic

Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3498949

rs_757797985

4 SubmittersRCV000790210 RCV005036123 RCV005092378 RCV005253123

NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr5:149028354

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA361668970

rs_1580901350

4 SubmittersRCV000789719 RCV001171314 RCV001048825 RCV002501035

NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter)

SNV
Germline

Chr6:109766820

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA3956155

rs_776090013

3 SubmittersRCV000789754 RCV003447254 RCV003581720

NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)

SNV
Germline

Chr7:30603062

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367139707

rs_1554337369

4 SubmittersRCV000789775 RCV001038534 RCV003447259 RCV005231333

NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)

SNV
Germline

Chr7:30603095

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2D
GARS1-related disorder

Criteria Provided
Conflicting Classifications

CA367139789

rs_1301948344

4 SubmittersRCV000789771 RCV001379906 RCV003447256 RCV005870872

NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala)

SNV
Germline

Chr7:30632298

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal dominant
Spinal muscular atrophy, infantile, James type
Charcot-Marie-Tooth disease type 2D

No Assertion Criteria Provided

CA367130471

rs_747080824

4 SubmittersRCV000789772 RCV001260978 RCV003447257

NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)

SNV
Germline

Chr7:76303841

Pathogenic/Likely pathogenic

Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA367765476

rs_28939680

3 SubmittersRCV001328847 RCV003992393 RCV000789059

NM_018972.4(GDAP1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr8:74350462

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2K

No Assertion Criteria Provided

CA371498958

rs_1474390668

2 SubmittersRCV000789710 RCV003447239

NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)

SNV
Germline

Chr8:74360271

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Single Submitter

CA371548881

rs_1443963090

3 SubmittersRCV000789158 RCV002536912 RCV003447191

NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)

SNV
Germline

Chr8:74361932

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Single Submitter

CA371549123

rs_1586804849

3 SubmittersRCV000789676 RCV003330953 RCV003447234

NM_001005373.4(LRSAM1):c.2046+1G>T

SNV
Germline

Chr9:127501144

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA374938379

rs_1588143215

2 SubmittersRCV002275132 RCV000789358

NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)

SNV
Germline

Chr10:62813497

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA377027531

rs_1589080524

5 SubmittersRCV000789748 RCV000815623 RCV002473135 RCV003447251

NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr11:68906145

Pathogenic

Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381642356

rs_1479493690

2 SubmittersRCV000790281 RCV001221389

NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)

SNV
Germline

Chr11:68908276

Pathogenic/Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA223385758

rs_972425138

5 SubmittersRCV000789337 RCV001197171 RCV001267649 RCV001869221

NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)

SNV
Germline

Chr11:68929266

Pathogenic/Likely pathogenic

Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA223405800

rs_776730737

4 SubmittersRCV000789645 RCV001390624 RCV002458408 RCV005407961

NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)

SNV
Germline

Chr11:68929305

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA381647714

rs_1347461335

4 SubmittersRCV000789351 RCV002249491 RCV002334461 RCV005225147

NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg)

SNV
Germline

Chr11:68933326

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified
Neuronopathy, distal hereditary motor, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6153588

rs_749343954

4 SubmittersRCV000818850 RCV004800585 RCV000789969 RCV005001111

NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)

SNV
Germline

Chr11:68933336

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381648742

rs_1303837541

7 SubmittersRCV000789974 RCV000806743 RCV000853264 RCV003489865

NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)

SNV
Germline

Chr11:68933397

Conflicting classifications of pathogenicity

Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA6153606

rs_571142182

5 SubmittersRCV000790276 RCV002290427 RCV005432422 RCV006556688

NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)

SNV
Germline

Chr11:68936297

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381651614

rs_1240319744

2 SubmittersRCV000789679 RCV001376977

NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)

SNV
Germline

Chr11:68936389

Conflicting classifications of pathogenicity

Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA6153801

rs_201563456

4 SubmittersRCV000790286 RCV001262002 RCV001306272

NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)

SNV
Germline

Chr11:68936842

Pathogenic/Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
See cases
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA6153891

rs_199839840

12 SubmittersRCV000789336 RCV000985181 RCV000856977 RCV001310976 RCV001869220 RCV002252236 RCV006440116

NM_016156.6(MTMR2):c.1749G>A (p.Trp583Ter)

SNV
Germline

Chr11:95836169

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA382413858

rs_1590968942

2 SubmittersRCV000790132 RCV004719988

NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu)

SNV
Germline

Chr11:95862321

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Conflicting Classifications

CA382430191

rs_1590997541

3 SubmittersRCV000790128 RCV001201504 RCV005418347

NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter)

SNV
Germline

Chr11:9993091

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Multiple Submitters
No Conflicts

CA379638005

rs_1032796987

3 SubmittersRCV000790191 RCV002535814 RCV005870875

NM_014365.3(HSPB8):c.422A>C (p.Lys141Thr)

SNV
Germline

Chr12:119187079

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2L

No Assertion Criteria Provided

CA386529565

rs_1565929090

2 SubmittersRCV000789966 RCV005055445

NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly)

SNV
Germline

Chr14:101983252

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391013986

rs_1595599240

3 SubmittersRCV000789733 RCV000995759 RCV003447242

NM_001376.5(DYNC1H1):c.1808A>T (p.Glu603Val)

SNV
Germline

Chr14:101986033

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal dominant
Spinal muscular atrophy with lower extremity predominance
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391019397

rs_1595600898

3 SubmittersRCV000789736 RCV001578270 RCV003447244

NM_001376.5(DYNC1H1):c.1834G>A (p.Val612Met)

SNV
Germline

Chr14:101986059

Pathogenic

Neuronopathy, distal hereditary motor, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA391019454

rs_1555408333

4 SubmittersRCV000789737 RCV001310722 RCV003447245

NM_022489.4(INF2):c.170T>C (p.Leu57Pro)

SNV
Germline

Chr14:104701535

Pathogenic

Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391225236

rs_1595163736

2 SubmittersRCV000789982 RCV001224751

NM_022489.4(INF2):c.206T>C (p.Leu69Pro)

SNV
Germline

Chr14:104701571

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391225451

rs_1595163820

2 SubmittersRCV000789992 RCV005870873

NM_022489.4(INF2):c.230T>C (p.Leu77Pro)

SNV
Germline

Chr14:104701595

Pathogenic

Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391225567

rs_1595163851

2 SubmittersRCV000789989 RCV001201657

NM_022489.4(INF2):c.230T>G (p.Leu77Arg)

SNV
Germline

Chr14:104701595

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA391225568

rs_1595163851

2 SubmittersRCV000789987 RCV001549803

NM_022489.4(INF2):c.323T>A (p.Val108Asp)

SNV
Germline

Chr14:104701688

Pathogenic

Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391225876

rs_1595164081

2 SubmittersRCV000789993 RCV005225149

NM_022489.4(INF2):c.341G>A (p.Gly114Asp)

SNV
Germline

Chr14:104701706

Pathogenic

Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391225918

rs_1595164091

2 SubmittersRCV000789986 RCV001380433

NM_022489.4(INF2):c.395T>C (p.Leu132Pro)

SNV
Germline

Chr14:104703108

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA391212614

rs_387907038

4 SubmittersRCV000789988 RCV001380434 RCV002462135 RCV004027379

NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe)

SNV
Germline

Chr14:77555325

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Neuropathy, hereditary sensory and autonomic, type 1C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390708429

rs_1594986869

6 SubmittersRCV000789584 RCV000796505 RCV001508368

NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp)

SNV
Germline

Chr15:34250331

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391605408

rs_1595430425

3 SubmittersRCV000790220 RCV003558598

NM_001136472.2(LITAF):c.477G>A (p.Lys159=)

SNV
Germline

Chr16:11549646

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1C

Criteria Provided
Conflicting Classifications

CA7904009

rs_371453151

4 SubmittersRCV000790251 RCV000857000 RCV001115989

NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)

SNV
Germline

Chr16:70259149

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
not specified

Criteria Provided
Conflicting Classifications

CA396558313

rs_1597435885

7 SubmittersRCV000789721 RCV001759481 RCV001362690 RCV002470981 RCV004782550

NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)

SNV
Germline

Chr17:15230981

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398739580

rs_1597597534

2 SubmittersRCV000790147 RCV001856243

NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)

SNV
Germline

Chr17:15230982

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Condition: not provided
Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease, type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA398739583

rs_1555564040

4 SubmittersRCV000790173 RCV001064771 RCV002269313 RCV003483723

NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)

SNV
Germline

Chr17:15231008

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA
Condition: not provided

Criteria Provided
Conflicting Classifications

CA398739650

rs_1597597627

5 SubmittersRCV000790165 RCV001873226 RCV003325975 RCV005051828

NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)

SNV
Germline

Chr17:15231028

Pathogenic

Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398739707

rs_1597597678

2 SubmittersRCV000790004 RCV002535811

NM_000304.4(PMP22):c.320G>T (p.Gly107Val)

SNV
Germline

Chr17:15231080

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA398739843

rs_1597597900

3 SubmittersRCV000789517 RCV000807479 RCV002535805

NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr17:15239534

Pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA398267972

rs_11545341

3 SubmittersRCV000789532 RCV000992663 RCV002536918

NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)

SNV
Germline

Chr17:15239555

Pathogenic

Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398268103

rs_863225027

2 SubmittersRCV000790146 RCV003581730

NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)

SNV
Germline

Chr17:15239575

Pathogenic/Likely pathogenic

Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA398268231

rs_104894621

3 SubmittersRCV000790174 RCV000802360 RCV001580546

NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)

SNV
Germline

Chr17:15239576

Pathogenic

Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398268237

rs_1597608086

2 SubmittersRCV000789526 RCV002535807

NM_000304.4(PMP22):c.206T>G (p.Met69Arg)

SNV
Germline

Chr17:15239584

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398268285

rs_104894620

2 SubmittersRCV000790164 RCV005092377

NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)

SNV
Germline

Chr17:15239607

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
PMP22-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA398268441

rs_1597608203

3 SubmittersRCV000789528 RCV003581719 RCV005870870

NM_000304.4(PMP22):c.88G>A (p.Val30Met)

SNV
Germline

Chr17:15259184

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8403434

rs_377335295

3 SubmittersRCV000790166 RCV000796876 RCV002225730

NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)

SNV
Germline

Chr19:10154712

Conflicting classifications of pathogenicity

Hereditary sensory neuropathy-deafness-dementia syndrome
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA403935092

rs_1599366076

3 SubmittersRCV002267741 RCV000789096

NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr)

SNV
Germline

Chr19:10820047

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404040449

rs_1269225724

5 SubmittersRCV000789090 RCV001542797 RCV003128698

NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)

SNV
Germline

Chr19:40396488

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405897504

rs_1210729449

3 SubmittersRCV000789718 RCV001037817 RCV001784402

NM_181882.3(PRX):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr19:40397262

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Multiple Submitters
No Conflicts

CA9444329

rs_144183238

5 SubmittersRCV000789544 RCV001869224 RCV004696990 RCV005409738

NM_181882.3(PRX):c.589G>T (p.Glu197Ter)

SNV
Germline

Chr19:40397763

Pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA9444422

rs_753857146

3 SubmittersRCV000789550 RCV001357486 RCV002535808

NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)

SNV
Germline

ChrX:71223713

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA413499274

rs_1602348530

2 SubmittersRCV000789206 RCV005231332

NM_000166.6(GJB1):c.37G>A (p.Val13Met)

SNV
Germline

ChrX:71223744

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10445274

rs_104894820

6 SubmittersRCV000789172 RCV000808363 RCV001027489 RCV001836650 RCV002352304

NM_000166.6(GJB1):c.47A>C (p.His16Pro)

SNV
Germline

ChrX:71223754

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413499537

rs_1602348610

2 SubmittersRCV000789173 RCV006464241

NM_000166.6(GJB1):c.47A>T (p.His16Leu)

SNV
Germline

ChrX:71223754

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413499545

rs_1602348610

2 SubmittersRCV000789875 RCV001353154

NM_000166.6(GJB1):c.68T>C (p.Val23Ala)

SNV
Germline

ChrX:71223775

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413500724

rs_1602348650

2 SubmittersRCV000789834 RCV001056787

NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)

SNV
Germline

ChrX:71223779

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413500765

rs_1602348658

2 SubmittersRCV000789252 RCV001370664

NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)

SNV
Germline

ChrX:71223780

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA413500774

rs_1602348662

3 SubmittersRCV000789266 RCV001253613

NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)

SNV
Germline

ChrX:71223796

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413500858

rs_104894817

3 SubmittersRCV000789282 RCV001061206 RCV003447219

NM_000166.6(GJB1):c.103G>A (p.Val35Met)

SNV
Germline

ChrX:71223810

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413500937

rs_1602348735

3 SubmittersRCV000789832 RCV001069428 RCV005648057

NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)

SNV
Germline

ChrX:71223814

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Conflicting Classifications

CA413500951

rs_1602348737

3 SubmittersRCV000789889 RCV005409740 RCV006464249

NM_000166.6(GJB1):c.113T>C (p.Val38Ala)

SNV
Germline

ChrX:71223820

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413500975

rs_863224612

2 SubmittersRCV000789237 RCV001856232

NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)

SNV
Germline

ChrX:71223825

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413500989

rs_1602348782

3 SubmittersRCV000789262 RCV001227710 RCV001662818

NM_000166.6(GJB1):c.119C>T (p.Ala40Val)

SNV
Germline

ChrX:71223826

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413500994

rs_1602348786

2 SubmittersRCV000789265 RCV001040086

NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)

SNV
Germline

ChrX:71223831

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413501016

rs_1602348801

2 SubmittersRCV002249493 RCV000789795

NM_000166.6(GJB1):c.127G>A (p.Val43Met)

SNV
Germline

ChrX:71223834

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA413501026

rs_1602348804

3 SubmittersRCV003336185 RCV005641803 RCV000789272

NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)

SNV
Germline

ChrX:71223839

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501057

rs_879253935

3 SubmittersRCV000789851 RCV003447278 RCV003581722

NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)

SNV
Germline

ChrX:71223844

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413501083

rs_1602348820

3 SubmittersRCV000789920 RCV003517267

NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)

SNV
Germline

ChrX:71223880

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Conflicting Classifications

CA413501270

rs_1602348876

3 SubmittersRCV000789310 RCV003480816 RCV003581713

NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)

SNV
Germline

ChrX:71223898

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501358

rs_1602348897

2 SubmittersRCV000789867 RCV001065214

NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)

SNV
Germline

ChrX:71223898

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501360

rs_1602348897

2 SubmittersRCV000789835 RCV001318399

NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)

SNV
Germline

ChrX:71223902

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413501376

rs_1602348907

3 SubmittersRCV000789801 RCV001388385 RCV003447273

NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)

SNV
Germline

ChrX:71223912

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501457

rs_1602348917

2 SubmittersRCV000789315 RCV002536914

NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)

SNV
Germline

ChrX:71223915

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413501479

rs_878853697

4 SubmittersRCV000789863 RCV000803734 RCV002422675 RCV006436901

NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)

SNV
Germline

ChrX:71223945

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA413501616

rs_1602348981

3 SubmittersRCV000789802 RCV000792639 RCV002424787

NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)

SNV
Germline

ChrX:71223945

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413501620

rs_1602348981

4 SubmittersRCV000789180 RCV000819010 RCV003447201

NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)

SNV
Germline

ChrX:71223948

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501630

rs_876661143

2 SubmittersRCV000789273 RCV001869217

NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)

SNV
Germline

ChrX:71223955

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413501654

rs_1602349004

3 SubmittersRCV000789274 RCV006464245 RCV006459909

NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)

SNV
Germline

ChrX:71223961

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501671

rs_104894823

2 SubmittersRCV000789181 RCV006464242

NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)

SNV
Germline

ChrX:71223964

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA413501677

rs_1602349017

3 SubmittersRCV003437427 RCV000789182

NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)

SNV
Germline

ChrX:71223964

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501681

rs_1602349017

2 SubmittersRCV000789876 RCV001873223

NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)

SNV
Germline

ChrX:71223967

Pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA413501690

rs_1602349021

2 SubmittersRCV000789184 RCV001560355

NM_000166.6(GJB1):c.277A>G (p.Met93Val)

SNV
Germline

ChrX:71223984

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501743

rs_1602349066

2 SubmittersRCV000789901 RCV003581724

NM_000166.6(GJB1):c.280C>G (p.His94Asp)

SNV
Germline

ChrX:71223987

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413501755

rs_1602349087

2 SubmittersRCV000789842 RCV005251222

NM_000166.6(GJB1):c.280C>T (p.His94Tyr)

SNV
Germline

ChrX:71223987

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501754

rs_1602349087

2 SubmittersRCV000789828 RCV001377073

NM_000166.6(GJB1):c.281A>G (p.His94Arg)

SNV
Germline

ChrX:71223988

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413501761

rs_1602349095

2 SubmittersRCV000789804 RCV000990863

NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)

SNV
Germline

ChrX:71223993

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501778

rs_1602349112

2 SubmittersRCV000789300 RCV001869218

NM_000166.6(GJB1):c.298C>T (p.His100Tyr)

SNV
Germline

ChrX:71224005

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501826

rs_1602349131

2 SubmittersRCV000789948 RCV002535810

NM_000166.6(GJB1):c.300C>G (p.His100Gln)

SNV
Germline

ChrX:71224007

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501835

rs_1602349137

2 SubmittersRCV000789868 RCV001869228

NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)

SNV
Germline

ChrX:71224011

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA413501850

rs_1602349143

3 SubmittersRCV000011188 RCV000789249

NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)

SNV
Germline

ChrX:71224030

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413501920

rs_1602349183

2 SubmittersRCV000789954 RCV001873224

NM_000166.6(GJB1):c.381C>G (p.Ile127Met)

SNV
Germline

ChrX:71224088

Pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413502100

rs_1602349264

2 SubmittersRCV000789283

NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)

SNV
Germline

ChrX:71224103

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413502168

rs_1602349293

3 SubmittersRCV000789259 RCV003447214 RCV005092371

NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)

SNV
Germline

ChrX:71224106

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413502190

rs_1602349302

3 SubmittersRCV003447296 RCV003886436 RCV000789931

NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)

SNV
Germline

ChrX:71224152

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413502487

rs_1602349369

2 SubmittersRCV000789276 RCV002470980

NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)

SNV
Germline

ChrX:71224183

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
not specified
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA413502681

rs_1602349446

4 SubmittersRCV000789844 RCV001869227 RCV004689882 RCV005047051

NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)

SNV
Germline

ChrX:71224186

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA413502696

rs_1602349451

3 SubmittersRCV000789805 RCV000991854 RCV005092374

NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)

SNV
Germline

ChrX:71224221

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA413502905

rs_104894811

3 SubmittersRCV000789217 RCV001706707 RCV006464244

NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)

SNV
Germline

ChrX:71224225

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413502928

rs_1602349535

2 SubmittersRCV000789306 RCV001353158

NM_000166.6(GJB1):c.530T>C (p.Val177Ala)

SNV
Germline

ChrX:71224237

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413503005

rs_1602349572

2 SubmittersRCV000789220 RCV004669115

NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)

SNV
Germline

ChrX:71224242

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA413503031

rs_1602349591

3 SubmittersRCV000789191 RCV001042490 RCV005623081

NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)

SNV
Germline

ChrX:71224245

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA413503052

rs_1602349603

3 SubmittersRCV000790237 RCV000990866 RCV003581731

NM_000166.6(GJB1):c.541G>C (p.Val181Leu)

SNV
Germline

ChrX:71224248

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA413503072

rs_879253909

2 SubmittersRCV000789929 RCV001289398

NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)

SNV
Germline

ChrX:71224251

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413503088

rs_1602349628

2 SubmittersRCV003985824 RCV000789833

NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)

SNV
Germline

ChrX:71224255

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413503117

rs_1555937233

2 SubmittersRCV002290041 RCV000789892

NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)

SNV
Germline

ChrX:71224299

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413503249

rs_1555937259

2 SubmittersRCV000789909 RCV003387929

NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)

SNV
Germline

ChrX:71224300

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA413503252

rs_1602349716

2 SubmittersRCV002290040 RCV000789822

NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)

SNV
Germline

ChrX:71224309

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413503269

rs_1602349730

3 SubmittersRCV000789861 RCV001070375 RCV002245668

NM_000166.6(GJB1):c.610C>G (p.Leu204Val)

SNV
Germline

ChrX:71224317

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413503287

rs_1064795540

3 SubmittersRCV000789823 RCV000805388 RCV004773140

NM_000166.6(GJB1):c.631T>C (p.Tyr211His)

SNV
Germline

ChrX:71224338

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Single Submitter

CA413503368

rs_1602349785

2 SubmittersRCV000789814 RCV006464248

NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)

SNV
Germline

ChrX:71224362

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth Neuropathy X
not specified
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA10445327

rs_144381053

5 SubmittersRCV000789824 RCV001759483 RCV003581721 RCV005407962 RCV005860146

NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)

SNV
Germline

ChrX:71224384

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X
not specified

Criteria Provided
Conflicting Classifications

CA10445331

rs_781312706

3 SubmittersRCV000789903 RCV001478696 RCV002249495

NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)

SNV
Germline

ChrX:71224396

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth Neuropathy X
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA330997840

rs_780335726

8 SubmittersRCV000789826 RCV001172021 RCV001444333 RCV002249494 RCV002360906

NM_016156.6(MTMR2):c.1593+1G>A

SNV
Germline

Chr11:95838093

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

CA382416253

rs_1590970875

3 SubmittersRCV000789670 RCV001332110

NM_014874.4(MFN2):c.475-1G>C

SNV
Germline

Chr1:11997296

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338436168

rs_1569834500

2 SubmittersRCV000790010 RCV001204551

NM_014874.4(MFN2):c.1392+1G>A

SNV
Germline

Chr1:12004614

Pathogenic

Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA338446498

rs_1569861708

1 SubmittersRCV000789074

NM_002529.4(NTRK1):c.359+5G>T

SNV
Germline

Chr1:156864804

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided

No Assertion Criteria Provided

CA915941483

rs_1571685765

3 SubmittersRCV000790138 RCV001701318

NM_002529.4(NTRK1):c.429-1G>C

SNV
Germline

Chr1:156868103

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis
PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1

Criteria Provided
Multiple Submitters
No Conflicts

CA342933540

rs_748672380

3 SubmittersRCV000789673 RCV001329488 RCV004798874

NM_002529.4(NTRK1):c.574+1G>A

SNV
Germline

Chr1:156868250

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA342934089

rs_1232901259

5 SubmittersRCV000789502 RCV001218483

NM_000530.8(MPZ):c.449-1G>C

SNV
Germline

Chr1:161306465

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343346656

rs_1571818339

2 SubmittersRCV000790056 RCV003581726

NM_014845.6(FIG4):c.877-2A>C

SNV
Germline

Chr6:109743108

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
FIG4-related disorder
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Multiple Submitters
No Conflicts

CA3955934

rs_143956557

6 SubmittersRCV000789756 RCV001655597 RCV001873222 RCV002370062 RCV003411740 RCV003447255

NM_002047.4(GARS1):c.1031+1G>A

SNV
Germline

Chr7:30612246

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2D
not specified
GARS1-related disorder
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA367125624

rs_1554338272

6 SubmittersRCV000789709 RCV002234688 RCV003447238 RCV004027378 RCV003908089 RCV005901940

NM_018972.4(GDAP1):c.311-1G>A

SNV
Germline

Chr8:74360136

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4A
Condition: not provided
GDAP1-related disorder
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Multiple Submitters
No Conflicts

CA371548237

rs_1370011538

6 SubmittersRCV000789640 RCV001390388 RCV001726328 RCV004527815 RCV003447230 RCV005047050

NM_002180.3(IGHMBP2):c.711+1G>C

SNV
Germline

Chr11:68911604

Pathogenic

Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA6153360

rs_774079947

2 SubmittersRCV000789346 RCV001390623

NM_002180.3(IGHMBP2):c.1060+1G>T

SNV
Germline

Chr11:68917884

Likely pathogenic

Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381645048

rs_1366461184

2 SubmittersRCV000790268 RCV001869234

NM_030962.4(SBF2):c.4443+1G>C

SNV
Germline

Chr11:9807999

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA379639129

rs_1564872328

2 SubmittersRCV000003047 RCV000790189

NM_000304.4(PMP22):c.319+1G>A

SNV
Germline

Chr17:15239470

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398267374

rs_1597607514

2 SubmittersRCV000789524 RCV002535806

NM_000304.4(PMP22):c.179-2A>G

SNV
Germline

Chr17:15239613

Pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA398268478

rs_1597608225

2 SubmittersRCV000790154

NM_000304.4(PMP22):c.79-2A>G

SNV
Germline

Chr17:15259195

Pathogenic

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Single Submitter

CA398271225

rs_1597633171

2 SubmittersRCV000789512 RCV001288684

NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter)

SNV
Germline

Chr5:149052235

Pathogenic

Charcot-Marie-Tooth disease type 4C

No Assertion Criteria Provided

CA361681864

rs_1580917130

1 SubmittersRCV000790424

NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)

SNV
Germline

Chr17:42536502

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399595735

rs_1599253805

2 SubmittersRCV000790558 RCV001856244

NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)

SNV
Germline

Chr17:42543150

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA399601217

rs_1599260473

2 SubmittersRCV000790559 RCV003768478

NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)

SNV
Germline

Chr22:50462920

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10317457

rs_199783239

3 SubmittersRCV000791208 RCV001576154

NM_014845.6(FIG4):c.290-2A>G

SNV
Germline

Chr6:109727107

Pathogenic

Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria

Criteria Provided
Single Submitter

CA365215649

rs_587777715

1 SubmittersRCV000790987 RCV000790988 RCV000790989

NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)

SNV
Germline

Chr1:10258524

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuroblastoma
Pheochromocytoma
not specified

Criteria Provided
Conflicting Classifications

CA580653

rs_761343609

4 SubmittersRCV000795601 RCV001097598 RCV002291698 RCV004027530

NM_001365951.3(KIF1B):c.776G>A (p.Gly259Asp)

SNV
Germline

Chr1:10271557

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580779

rs_767229413

2 SubmittersRCV000793889 RCV004629326

NM_001365951.3(KIF1B):c.3042A>C (p.Ala1014=)

SNV
Germline

Chr1:10334637

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581677

rs_748192983

3 SubmittersRCV000802026 RCV004028086

NM_014874.4(MFN2):c.262A>T (p.Ile88Phe)

SNV
Germline

Chr1:11992641

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338462073

rs_1569816194

1 SubmittersRCV000809868

NM_014874.4(MFN2):c.495T>G (p.His165Gln)

SNV
Germline

Chr1:11997317

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338436264

rs_1569834720

1 SubmittersRCV000798323

NM_014874.4(MFN2):c.650G>T (p.Cys217Phe)

SNV
Germline

Chr1:11998820

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438080

rs_1569842458

1 SubmittersRCV000821854

NM_014874.4(MFN2):c.656A>G (p.Asp219Gly)

SNV
Germline

Chr1:11998826

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438147

rs_1569842483

1 SubmittersRCV000796496

NM_014874.4(MFN2):c.690G>T (p.Glu230Asp)

SNV
Germline

Chr1:11998860

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338438498

rs_1569842685

2 SubmittersRCV000817023 RCV001766721

NM_014874.4(MFN2):c.1292C>A (p.Ser431Ter)

SNV
Germline

Chr1:12004513

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338445767

rs_764374251

1 SubmittersRCV000792753

NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)

SNV
Germline

Chr1:156115012

Pathogenic

Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA342807427

rs_1553261891

2 SubmittersRCV000812291 RCV004789213

NM_170707.4(LMNA):c.116A>T (p.Asn39Ile)

SNV
Germline

Chr1:156115034

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807683

rs_57983345

1 SubmittersRCV000804081

NM_170707.4(LMNA):c.121C>A (p.Arg41Ser)

SNV
Germline

Chr1:156115039

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342807733

rs_1572332164

2 SubmittersRCV000803355 RCV003133634

NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)

SNV
Germline

Chr1:156115061

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342807944

rs_1572332235

2 SubmittersRCV000800232 RCV003235401

NM_170707.4(LMNA):c.143G>T (p.Arg48Leu)

SNV
Germline

Chr1:156115061

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807945

rs_1572332235

1 SubmittersRCV000811094

NM_170707.4(LMNA):c.214C>T (p.Arg72Cys)

SNV
Germline

Chr1:156115132

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342808277

rs_17847247

3 SubmittersRCV000810112 RCV006347232 RCV006552891

NM_170707.4(LMNA):c.601A>T (p.Lys201Ter)

SNV
Germline

Chr1:156134490

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817012

rs_1572358860

1 SubmittersRCV000805149

NM_170707.4(LMNA):c.1156A>G (p.Arg386Gly)

SNV
Germline

Chr1:156136120

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820683

rs_1572363397

1 SubmittersRCV000801706

NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter)

SNV
Germline

Chr1:156136320

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342821502

rs_1448275854

1 SubmittersRCV000823653

NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala)

SNV
Germline

Chr1:156136326

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342821538

rs_1166140426

4 SubmittersRCV000796032 RCV001509064 RCV002370085 RCV003532264

NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter)

SNV
Germline

Chr1:156137165

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823242

rs_1572366412

1 SubmittersRCV000804745

NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)

SNV
Germline

Chr1:156138533

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
11 conditions

Criteria Provided
Conflicting Classifications

CA31015365

rs_918645468

7 SubmittersRCV000806558 RCV001509065 RCV002397643 RCV004001686 RCV004761799 RCV005047089

NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser)

SNV
Germline

Chr1:156138738

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31015708

rs_775728847

4 SubmittersRCV000799271 RCV002462154 RCV003532267 RCV004001623

NM_000530.8(MPZ):c.412A>G (p.Lys138Glu)

SNV
Germline

Chr1:161306744

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343348563

rs_1571818721

2 SubmittersRCV000824269 RCV004720015

NM_000530.8(MPZ):c.394C>T (p.Pro132Ser)

SNV
Germline

Chr1:161306762

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA343348729

rs_1553259649

2 SubmittersRCV000818403 RCV005253644

NM_000530.8(MPZ):c.362A>G (p.Asp121Gly)

SNV
Germline

Chr1:161306794

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343349058

rs_1571818953

4 SubmittersRCV000814912 RCV001353168 RCV005628857

NM_000530.8(MPZ):c.159G>A (p.Trp53Ter)

SNV
Germline

Chr1:161307333

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343351090

rs_1571820100

1 SubmittersRCV000793801

NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)

SNV
Germline

Chr1:32806493

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate C
Condition: not provided
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Criteria Provided
Multiple Submitters
No Conflicts

CA339686717

rs_1279417718

4 SubmittersRCV000819906 RCV000993967 RCV001533215

NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln)

SNV
Germline

Chr5:149004742

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Tip-toe gait
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3498614

rs_142774907

5 SubmittersRCV000811544 RCV002225739 RCV004028732 RCV005231374 RCV005240605

NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro)

SNV
Germline

Chr5:149027444

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361666681

rs_1580900331

1 SubmittersRCV000806118

NM_024577.4(SH3TC2):c.2258G>A (p.Arg753Gln)

SNV
Germline

Chr5:149027474

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499036

rs_755570739

4 SubmittersRCV000796812 RCV001507657 RCV003258972

NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His)

SNV
Germline

Chr5:149031583

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499290

rs_551803988

3 SubmittersRCV000807089 RCV001289212 RCV004659218

NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr)

SNV
Germline

Chr5:149044629

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Hereditary motor and sensory neuropathy

Criteria Provided
Conflicting Classifications

CA3499546

rs_562689036

2 SubmittersRCV000809649 RCV001030798

NM_024577.4(SH3TC2):c.164C>T (p.Ser55Phe)

SNV
Germline

Chr5:149047977

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499605

rs_201291203

2 SubmittersRCV000820408 RCV004029037

NM_014845.6(FIG4):c.535C>T (p.Leu179Phe)

SNV
Germline

Chr6:109735187

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3955830

rs_141116831

4 SubmittersRCV000822576 RCV000998667 RCV002345905

NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys)

SNV
Germline

Chr6:109777051

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3956199

rs_770831509

4 SubmittersRCV000818026 RCV000857168 RCV005256686 RCV005841645

NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)

SNV
Germline

Chr6:109785008

Pathogenic

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA365231624

rs_1488999396

2 SubmittersRCV000824501 RCV002408998

NM_002047.4(GARS1):c.19G>T (p.Val7Leu)

SNV
Germline

Chr7:30594940

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4205561

rs_201132307

3 SubmittersRCV000814077 RCV001174145 RCV003736911

NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)

SNV
Germline

Chr7:30598874

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4205642

rs_746056671

4 SubmittersRCV000823490 RCV001174148 RCV004029143 RCV006459957

NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)

SNV
Germline

Chr7:30612193

Pathogenic

Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA367125157

rs_1584034430

3 SubmittersRCV000819141 RCV001823170 RCV005253645

NM_002047.4(GARS1):c.1921C>T (p.His641Tyr)

SNV
Germline

Chr7:30632264

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4206124

rs_191270471

3 SubmittersRCV000818890 RCV004028994 RCV004702453

NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg)

SNV
Germline

Chr8:133264594

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4886871

rs_140634799

3 SubmittersRCV000804497 RCV001825592 RCV003166238

NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)

SNV
Germline

Chr8:74360185

Likely pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371548482

rs_1174933176

1 SubmittersRCV000820275

NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)

SNV
Germline

Chr8:74360219

Likely pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371548628

rs_1586803187

1 SubmittersRCV000824527

NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)

SNV
Germline

Chr8:74364129

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371550366

rs_1417699318

1 SubmittersRCV000818644

NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser)

SNV
Germline

Chr9:127502846

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374939531

rs_1588144707

1 SubmittersRCV000823842

NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe)

SNV
Germline

Chr9:92038334

Conflicting classifications of pathogenicity

Hereditary sensory and autonomic neuropathy type 1
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5121287

rs_369803886

3 SubmittersRCV000806535 RCV001174080 RCV002332649

NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala)

SNV
Germline

Chr11:62702494

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17

Criteria Provided
Conflicting Classifications

CA380968396

rs_1590881633

2 SubmittersRCV000797348 RCV005409744

NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser)

SNV
Germline

Chr11:68938283

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6153989

rs_772387164

4 SubmittersRCV000791944 RCV002440624 RCV000856980 RCV005225151

NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)

SNV
Germline

Chr11:9789109

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA217608429

rs_757095964

3 SubmittersRCV000799041 RCV001110354 RCV003886438

NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser)

SNV
Germline

Chr12:109803042

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780479

rs_373539744

3 SubmittersRCV000797534 RCV001662822 RCV005286212

NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr)

SNV
Germline

Chr12:109814652

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780612

rs_546287338

5 SubmittersRCV000804111 RCV001173492 RCV002388505 RCV001545388

NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)

SNV
Germline

Chr12:32640327

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6507114

rs_140220443

6 SubmittersRCV000815703 RCV001114408 RCV001173483 RCV002422824 RCV003480862

NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)

SNV
Germline

Chr14:101975720

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351489

rs_749973847

2 SubmittersRCV000811286 RCV002424904

NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)

SNV
Germline

Chr14:101986594

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351805

rs_371431746

2 SubmittersRCV000805751 RCV003380733

NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)

SNV
Germline

Chr14:101987455

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA487966360

rs_1595601645

2 SubmittersRCV000804319 RCV001174020

NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)

SNV
Germline

Chr14:101991533

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7351911

rs_140141126

3 SubmittersRCV000810323 RCV002440743 RCV001200092

NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)

SNV
Germline

Chr14:102016424

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391002382

rs_1567012503

2 SubmittersRCV000793830 RCV002388424

NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)

SNV
Germline

Chr14:102018497

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352978

rs_773460120

2 SubmittersRCV000807072 RCV004777881

NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)

SNV
Germline

Chr14:102034449

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353466

rs_774439464

2 SubmittersRCV000823197 RCV002267031

NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)

SNV
Germline

Chr14:102038521

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Inborn genetic diseases
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA7353514

rs_761427653

4 SubmittersRCV000798585 RCV002225118 RCV002537999 RCV003338806

NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)

SNV
Germline

Chr14:102048579

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7354198

rs_770395590

2 SubmittersRCV000796164 RCV003319423

NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)

SNV
Germline

Chr14:102049849

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354296

rs_145366078

6 SubmittersRCV000802652 RCV000991930 RCV001255800 RCV002386432

NM_022489.4(INF2):c.638C>T (p.Ala213Val)

SNV
Germline

Chr14:104703425

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7372349

rs_746572452

2 SubmittersRCV000821668

NM_022489.4(INF2):c.787T>G (p.Ser263Ala)

SNV
Germline

Chr14:104706120

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391214057

rs_1364540701

2 SubmittersRCV000795748 RCV002406745

NM_022489.4(INF2):c.1067C>T (p.Ala356Val)

SNV
Germline

Chr14:104707334

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372502

rs_375622503

3 SubmittersRCV000821029 RCV002537488

NM_022489.4(INF2):c.1304C>T (p.Ala435Val)

SNV
Germline

Chr14:104707571

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372554

rs_777455096

3 SubmittersRCV000818145 RCV001569430 RCV002381846

NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)

SNV
Germline

Chr14:104707577

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7372555

rs_746697423

4 SubmittersRCV000810533 RCV002381799 RCV005240602

NM_022489.4(INF2):c.1485G>A (p.Pro495=)

SNV
Germline

Chr14:104707752

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
INF2-related disorder
Hepatocellular carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA7372576

rs_780642540

6 SubmittersRCV000806921 RCV003413619 RCV005902018 RCV006269020

NM_022489.4(INF2):c.1593G>A (p.Ala531=)

SNV
Germline

Chr14:104707860

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA267323514

rs_186326868

2 SubmittersRCV000819955

NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)

SNV
Germline

Chr14:104709325

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA391219591

rs_1279137766

2 SubmittersRCV000795119

NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)

SNV
Germline

Chr14:104709651

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372820

rs_372333024

6 SubmittersRCV000804721 RCV002422755 RCV003156294

NM_022489.4(INF2):c.2572G>A (p.Val858Met)

SNV
Germline

Chr14:104712515

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372983

rs_201292830

3 SubmittersRCV000814720 RCV002427007

NM_022489.4(INF2):c.2960G>A (p.Arg987Gln)

SNV
Germline

Chr14:104713526

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373135

rs_757988412

2 SubmittersRCV000822938

NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)

SNV
Germline

Chr14:104713558

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373146

rs_747569209

4 SubmittersRCV000823925 RCV002434028 RCV006448623

NM_022489.4(INF2):c.3157G>A (p.Val1053Met)

SNV
Germline

Chr14:104714319

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373193

rs_760721935

3 SubmittersRCV000819052 RCV002325612 RCV003396438

NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn)

SNV
Germline

Chr14:104714412

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373215

rs_557741807

2 SubmittersRCV000813740

NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln)

SNV
Germline

Chr14:104714419

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA267330620

rs_368869709

3 SubmittersRCV000808603

NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)

SNV
Germline

Chr15:44595458

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7534664

rs_374303102

5 SubmittersRCV000811250 RCV001597216 RCV002468060 RCV002468061 RCV002538091 RCV005418360

NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)

SNV
Germline

Chr15:44629349

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
not specified

Criteria Provided
Conflicting Classifications

CA7535440

rs_373796566

6 SubmittersRCV000811249 RCV001593001 RCV002468058 RCV002397668 RCV002468059 RCV005418359

NM_001136472.2(LITAF):c.412G>A (p.Val138Met)

SNV
Germline

Chr16:11549711

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7904024

rs_780788687

3 SubmittersRCV000793835 RCV001174231 RCV002332592

NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)

SNV
Germline

Chr16:11553579

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA394765314

rs_1324125372

6 SubmittersRCV000792008 RCV000996213 RCV001027505 RCV004986596

NM_001136472.2(LITAF):c.310G>A (p.Val104Met)

SNV
Germline

Chr16:11553600

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7904086

rs_373445989

4 SubmittersRCV000803579 RCV002325553 RCV006452903

NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)

SNV
Germline

Chr16:11553642

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease
not specified
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA7904097

rs_375665454

5 SubmittersRCV000794470 RCV001173625 RCV003155313 RCV005626216

NM_001605.3(AARS1):c.919G>A (p.Val307Met)

SNV
Germline

Chr16:70269661

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA396564537

rs_1316227824

2 SubmittersRCV000809732 RCV005256685

NM_001605.3(AARS1):c.778A>G (p.Thr260Ala)

SNV
Germline

Chr16:70270234

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Developmental and epileptic encephalopathy, 29

Criteria Provided
Conflicting Classifications

CA396565259

rs_1165867512

2 SubmittersRCV000823806 RCV001509583

NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)

SNV
Germline

Chr16:70276995

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA396569407

rs_1597446183

3 SubmittersRCV001027508 RCV000807351 RCV003319426

NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)

SNV
Germline

Chr17:15230980

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA398739576

rs_1597597527

2 SubmittersRCV000803362 RCV001173917

NM_000304.4(PMP22):c.299G>T (p.Gly100Val)

SNV
Germline

Chr17:15239491

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA398267434

rs_1597607638

2 SubmittersRCV000794969 RCV001173924

NM_000263.4(NAGLU):c.701G>A (p.Arg234His)

SNV
Germline

Chr17:42538692

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399598921

rs_886042073

1 SubmittersRCV000792982

NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)

SNV
Germline

Chr17:42543283

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399601704

rs_771151036

3 SubmittersRCV000796856 RCV006452893

NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)

SNV
Germline

Chr17:42543952

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399605584

rs_527236038

1 SubmittersRCV000817898

NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)

SNV
Germline

Chr19:10775814

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9200808

rs_200002469

4 SubmittersRCV000822608 RCV001124915 RCV002336716 RCV006435109

NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln)

SNV
Germline

Chr19:10798508

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
DNM2-related disorder

Criteria Provided
Conflicting Classifications

CA9201130

rs_140043676

3 SubmittersRCV000799533 RCV003144611 RCV004745592

NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)

SNV
Germline

Chr19:40395663

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Multiple Submitters
No Conflicts

CA9444001

rs_756689732

3 SubmittersRCV000800697 RCV000857052 RCV005392408

NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)

SNV
Germline

Chr22:30932642

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
not specified

Criteria Provided
Conflicting Classifications

CA10186600

rs_372297066

2 SubmittersRCV000821392 RCV001824892

NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)

SNV
Germline

Chr22:30932648

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
not specified

Criteria Provided
Conflicting Classifications

CA10186604

rs_372199572

2 SubmittersRCV000815989 RCV005056596

NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)

SNV
Germline

Chr22:30934914

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10186780

rs_201772330

3 SubmittersRCV000823268 RCV005408003 RCV006448621

NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)

SNV
Germline

Chr22:30937964

Pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411239136

rs_1555938741

1 SubmittersRCV000817470

NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)

SNV
Germline

Chr22:30941459

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411241151

rs_1064796495

1 SubmittersRCV000816128

NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)

SNV
Germline

Chr22:30946372

Pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411244763

rs_1602496057

1 SubmittersRCV000820512

NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys)

SNV
Germline

ChrX:130137147

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Combined oxidative phosphorylation deficiency
Charcot-Marie-Tooth disease X-linked recessive 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA414579884

rs_1603223158

3 SubmittersRCV000795040 RCV002468607 RCV003329341

NM_170707.4(LMNA):c.640-2A>G

SNV
Germline

Chr1:156134803

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817109

rs_1572359505

1 SubmittersRCV000821778

NM_170707.4(LMNA):c.357-2A>G

SNV
Germline

Chr1:156130615

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Hepatocellular carcinoma
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342814936

rs_113610699

3 SubmittersRCV000807553 RCV005902022 RCV005652450

NM_170707.4(LMNA):c.356+5G>A

SNV
Germline

Chr1:156115279

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
11 conditions

Criteria Provided
Conflicting Classifications

CA915941455

rs_1572332952

4 SubmittersRCV000822120 RCV004029093 RCV004776298 RCV005049712

NM_170707.4(LMNA):c.811-1G>A

SNV
Germline

Chr1:156135186

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342817464

rs_1365042239

3 SubmittersRCV000800997 RCV004028046 RCV005633707

NM_000530.8(MPZ):c.646-5C>G

SNV
Germline

Chr1:161305982

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA31667825

rs_201115971

2 SubmittersRCV000797031 RCV002534615

NM_000530.8(MPZ):c.68-1G>A

SNV
Germline

Chr1:161307425

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA343351747

rs_1057518021

3 SubmittersRCV000811587 RCV001507503 RCV003380742

NM_024577.4(SH3TC2):c.3054-2A>C

SNV
Germline

Chr5:149012736

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361663186

rs_1580891465

1 SubmittersRCV000806625

NM_014845.6(FIG4):c.1271+5A>G

SNV
Germline

Chr6:109760388

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3956024

rs_374583399

5 SubmittersRCV000821312 RCV001158266 RCV001158267 RCV001173274 RCV002372344 RCV003908110

NM_006096.4(NDRG1):c.326+1G>A

SNV
Germline

Chr8:133262046

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372256131

rs_1586446057

1 SubmittersRCV000808279

NM_001005373.4(LRSAM1):c.1088+1G>C

SNV
Germline

Chr9:127481228

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5246824

rs_765641195

3 SubmittersRCV000813526 RCV001507752

NM_001376.5(DYNC1H1):c.5050-3C>T

SNV
Germline

Chr14:102004759

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352349

rs_372462176

3 SubmittersRCV000809818 RCV002336662 RCV001655605

NM_001376.5(DYNC1H1):c.8343+5G>A

SNV
Germline

Chr14:102018621

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Distal myopathy
not specified

Criteria Provided
Conflicting Classifications

CA7352998

rs_369653555

5 SubmittersRCV000823365 RCV004693399 RCV005626231 RCV006265322

NM_022489.4(INF2):c.507+6C>T

SNV
Germline

Chr14:104703226

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7372308

rs_749868411

3 SubmittersRCV000797372 RCV002334492 RCV005436062

NM_001376.5(DYNC1H1):c.11941+2T>A

SNV
Germline

Chr14:102040675

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Lissencephaly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391037470

rs_1595630836

3 SubmittersRCV000816726 RCV001291180 RCV005225157

NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr5:149027301

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361666380

rs_1580900150

1 SubmittersRCV000824888

NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)

SNV
Germline

Chr14:101979787

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391008269

rs_1595597572

1 SubmittersRCV000824829

NM_001540.5(HSPB1):c.210G>A (p.Ala70=)

SNV
Germline

Chr7:76302922

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Conflicting Classifications

CA4306289

rs_749963653

5 SubmittersRCV000840897 RCV001160859 RCV001160860

NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)

SNV
Germline

Chr12:109784335

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type

Criteria Provided
Conflicting Classifications

CA6779924

rs_545589086

3 SubmittersRCV000842268 RCV001109049 RCV001109051 RCV001109047 RCV001109048 RCV001109050 RCV001111390

NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)

SNV
Germline

Chr14:102004593

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7352331

rs_773425996

4 SubmittersRCV000826959 RCV001111164 RCV001111165 RCV003948018

NM_001376.5(DYNC1H1):c.12213C>T (p.Ile4071=)

SNV
Germline

Chr14:102042123

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353852

rs_746950373

3 SubmittersRCV000840207 RCV002067521

NM_001605.3(AARS1):c.342A>C (p.Ala114=)

SNV
Germline

Chr16:70276623

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8141153

rs_190680402

4 SubmittersRCV000841300 RCV001115375 RCV001456378

NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr11:95847803

Pathogenic

Charcot-Marie-Tooth disease type 4B1
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA226600928

rs_776757548

4 SubmittersRCV000844881 RCV002453928 RCV003744669

NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr11:95849784

Pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

CA382425486

rs_1171462240

1 SubmittersRCV000844882

NM_016156.6(MTMR2):c.1479+1G>A

SNV
Germline

Chr11:95841616

Pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

CA382418692

rs_1590974546

2 SubmittersRCV000844880

NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile)

SNV
Germline

Chr8:133244372

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA4886518

rs_745520295

4 SubmittersRCV001002752 RCV001164017 RCV001279782

NM_001605.3(AARS1):c.618G>T (p.Gln206His)

SNV
Germline

Chr16:70271834

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141089

rs_139785247

3 SubmittersRCV000850375 RCV002234890 RCV004601295

NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)

SNV
Germline

ChrX:71223825

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA413500990

rs_1602348782

1 SubmittersRCV000984885

NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)

SNV
Germline

Chr14:102033428

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353397

rs_778115137

3 SubmittersRCV000855520 RCV001366306 RCV006450363

NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)

SNV
Germline

Chr14:102043961

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA488186538

rs_1595633027

2 SubmittersRCV000855523 RCV001367404

NM_170707.4(LMNA):c.475G>T (p.Glu159Ter)

SNV
Germline

Chr1:156130735

Pathogenic

Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342815562

rs_267607622

2 SubmittersRCV000984808 RCV001068018

NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys)

SNV
Germline

Chr19:10823816

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA305266026

rs_951875086

3 SubmittersRCV000856820 RCV003768636 RCV004586960

NM_014874.4(MFN2):c.272T>G (p.Val91Gly)

SNV
Germline

Chr1:11992651

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA338462133

rs_1569816262

2 SubmittersRCV000857090

NM_014874.4(MFN2):c.718T>C (p.Phe240Leu)

SNV
Germline

Chr1:11998997

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438888

rs_1557525005

2 SubmittersRCV000857098 RCV001858529

NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)

SNV
Germline

Chr5:149027919

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499118

rs_778936762

3 SubmittersRCV000857150 RCV001300966 RCV002409010

NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys)

SNV
Germline

Chr6:109765052

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
FIG4-related disorder
Yunis-Varon syndrome

Criteria Provided
Conflicting Classifications

CA3956104

rs_747284213

4 SubmittersRCV001858532 RCV000857166 RCV003411830 RCV005603668

NM_002047.4(GARS1):c.647A>G (p.His216Arg)

SNV
Germline

Chr7:30603111

Conflicting classifications of pathogenicity

Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2D
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
Spinal muscular atrophy, infantile, James type
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205764

rs_768987322

7 SubmittersRCV000857176 RCV001253591 RCV001260979 RCV003482320 RCV004768719 RCV005092541

NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter)

SNV
Germline

Chr9:127501102

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374938291

rs_1588143112

2 SubmittersRCV000857216 RCV001205278

NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln)

SNV
Germline

Chr11:68939709

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6154070

rs_199863781

4 SubmittersRCV000856984 RCV001869314 RCV002434054 RCV004768718

NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg)

SNV
Germline

Chr14:102047976

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391046562

rs_1206639344

3 SubmittersRCV000856992 RCV002381908 RCV002538888

NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)

SNV
Germline

Chr22:30937967

Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411239143

rs_1602485728

3 SubmittersRCV000857119 RCV001027506 RCV001215495

NM_024577.4(SH3TC2):c.386-2A>C

SNV
Germline

Chr5:149042839

Pathogenic/Likely pathogenic

Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA3499515

rs_145670786

6 SubmittersRCV000857159 RCV001035277 RCV001556920 RCV002352497 RCV004789241 RCV005036240

NM_001303256.3(MORC2):c.263C>T (p.Ala88Val)

SNV
Germline

Chr22:30949806

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411245171

rs_1602499659

1 SubmittersRCV000857312

NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)

SNV
Germline

Chr1:12005744

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
MFN2-related disorder
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA599151

rs_376598131

7 SubmittersRCV000862611 RCV001172997 RCV001726347 RCV002399864 RCV004540164 RCV005626242

NM_024577.4(SH3TC2):c.660G>C (p.Val220=)

SNV
Germline

Chr5:149041487

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3499441

rs_202052720

3 SubmittersRCV000864216 RCV001155885 RCV001173888 RCV001155886

NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)

SNV
Germline

Chr5:149052206

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
SH3TC2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499631

rs_148793803

3 SubmittersRCV000863817 RCV004540178 RCV006270445

NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)

SNV
Germline

Chr6:109727220

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955758

rs_571563767

4 SubmittersRCV000862624 RCV001172958 RCV002352509 RCV003965654

NM_014845.6(FIG4):c.658A>G (p.Ile220Val)

SNV
Germline

Chr6:109738336

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955878

rs_565096937

5 SubmittersRCV000860529 RCV001154808 RCV001154807 RCV001172965 RCV002372390 RCV003892776

NM_006096.4(NDRG1):c.528C>T (p.Ala176=)

SNV
Germline

Chr8:133256786

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4886723

rs_191237702

4 SubmittersRCV000861561 RCV001159106 RCV001289033

NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)

SNV
Germline

Chr8:133258368

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4886751

rs_150796527

7 SubmittersRCV000864008 RCV001160458 RCV001173708 RCV002332779 RCV004997411 RCV004792559

NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp)

SNV
Germline

Chr9:127479416

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246715

rs_149456922

5 SubmittersRCV000863251 RCV001173644 RCV001683673 RCV002415987

NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln)

SNV
Germline

Chr9:127489502

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5246974

rs_369439346

3 SubmittersRCV000863916 RCV001174254 RCV005628864

NM_000399.5(EGR2):c.1395G>A (p.Pro465=)

SNV
Germline

Chr10:62813243

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA5517144

rs_779811073

4 SubmittersRCV000863191 RCV001173237 RCV001484118

NM_001122955.4(BSCL2):c.846G>A (p.Ala282=)

SNV
Germline

Chr11:62692393

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6053436

rs_375554369

2 SubmittersRCV000864157 RCV001847050

NM_030962.4(SBF2):c.5004C>G (p.Thr1668=)

SNV
Germline

Chr11:9787667

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Conflicting Classifications

CA5880844

rs_150598413

2 SubmittersRCV000862686 RCV001114391

NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu)

SNV
Germline

Chr11:9812576

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5881061

rs_149501654

4 SubmittersRCV000863552 RCV001173814 RCV001759647 RCV002319963

NM_001370298.3(FGD4):c.785C>T (p.Thr262Met)

SNV
Germline

Chr12:32582241

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6506619

rs_200732890

5 SubmittersRCV000864209 RCV001114308 RCV001174104 RCV002345961 RCV006440194

NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)

SNV
Germline

Chr14:102009895

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352544

rs_202004938

4 SubmittersRCV001172914 RCV001110506 RCV001111265 RCV002352512

NM_001605.3(AARS1):c.1737C>G (p.Ile579Met)

SNV
Germline

Chr16:70261092

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8140703

rs_144323646

4 SubmittersRCV000863429 RCV002462199 RCV004705805

NM_181882.3(PRX):c.2715C>A (p.Thr905=)

SNV
Germline

Chr19:40395637

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9443997

rs_188765166

4 SubmittersRCV000863888 RCV001132701 RCV001172784 RCV003411841

NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)

SNV
Germline

Chr1:10334529

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA581650

rs_749154726

6 SubmittersRCV001098680 RCV001172600 RCV001429972 RCV004027697 RCV004546572

NM_170707.4(LMNA):c.1227A>G (p.Thr409=)

SNV
Germline

Chr1:156136283

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Hutchinson-Gilford syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049519

rs_762130433

9 SubmittersRCV000865471 RCV001100367 RCV001100369 RCV001102348 RCV001102350 RCV001102352 RCV001102353 RCV001100368 RCV001100370 RCV001102349 RCV001102351 RCV001191849 RCV001700317 RCV001726349 RCV003307601 RCV004002962

NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)

SNV
Germline

Chr5:149047887

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499588

rs_567173388

3 SubmittersRCV000867021 RCV003141876

NM_002047.4(GARS1):c.722G>A (p.Ser241Asn)

SNV
Germline

Chr7:30603559

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4205792

rs_775140242

2 SubmittersRCV001395684 RCV003489948

NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)

SNV
Germline

Chr8:133258413

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4886762

rs_202118022

4 SubmittersRCV000868261 RCV001173718 RCV001273467 RCV002319991

NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)

SNV
Germline

Chr9:127492813

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA5247038

rs_140066362

2 SubmittersRCV000869605

NM_030962.4(SBF2):c.48G>A (p.Glu16=)

SNV
Germline

Chr11:10294022

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Conflicting Classifications

CA217926888

rs_889453292

2 SubmittersRCV000869219 RCV001102778

NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val)

SNV
Germline

Chr11:62694666

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Severe neurodegenerative syndrome with lipodystrophy

Criteria Provided
Conflicting Classifications

CA6053532

rs_760613992

3 SubmittersRCV002064614 RCV003328472 RCV005049717

NM_030962.4(SBF2):c.2787A>T (p.Gly929=)

SNV
Germline

Chr11:9850042

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
SBF2-related disorder

Criteria Provided
Conflicting Classifications

CA5881462

rs_777826645

2 SubmittersRCV001424644 RCV003413691

NM_021625.5(TRPV4):c.1311G>C (p.Leu437=)

SNV
Germline

Chr12:109796546

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA6780295

rs_148225182

2 SubmittersRCV000865180 RCV002279571

NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)

SNV
Germline

Chr14:101983444

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7351674

rs_767564445

4 SubmittersRCV000870548 RCV001110990 RCV001550412

NM_001376.5(DYNC1H1):c.1318A>C (p.Arg440=)

SNV
Germline

Chr14:101983466

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA487965977

rs_1566997890

2 SubmittersRCV001419706 RCV001816980

NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=)

SNV
Germline

Chr14:102036612

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA487967984

rs_1407178236

2 SubmittersRCV000866115 RCV001335826

NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)

SNV
Germline

Chr16:70276535

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141138

rs_147187788

4 SubmittersRCV000866125 RCV001115374 RCV001788376 RCV002462202

NM_001005361.3(DNM2):c.1965C>T (p.Thr655=)

SNV
Germline

Chr19:10825128

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA9201462

rs_201972896

3 SubmittersRCV000868739 RCV001078964

NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu)

SNV
Germline

Chr19:10830147

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201588

rs_202060910

3 SubmittersRCV000865464 RCV002442815 RCV006450370

NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)

SNV
Germline

Chr19:40396308

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4F
Dejerine-Sottas disease

Criteria Provided
Conflicting Classifications

CA9444131

rs_761277865

3 SubmittersRCV000865791 RCV002416010 RCV005392476

NM_181882.3(PRX):c.944G>A (p.Arg315Gln)

SNV
Germline

Chr19:40397408

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444354

rs_577197549

4 SubmittersRCV000868289 RCV001129240 RCV001173080 RCV004027719

NM_181882.3(PRX):c.732G>A (p.Ala244=)

SNV
Germline

Chr19:40397620

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9444386

rs_769735682

2 SubmittersRCV001131933 RCV001398306

NM_005391.5(PDK3):c.341A>C (p.Lys114Thr)

SNV
Germline

ChrX:24503347

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA10372280

rs_146331370

2 SubmittersRCV000864913 RCV001173738

NM_001376.5(DYNC1H1):c.3334-4T>C

SNV
Germline

Chr14:101994982

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352002

rs_368422942

2 SubmittersRCV000869907 RCV002320008

NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu)

SNV
Germline

Chr9:92080055

Conflicting classifications of pathogenicity

Hereditary sensory and autonomic neuropathy type 1
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA5121582

rs_200773661

2 SubmittersRCV000874259 RCV001174078

NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=)

SNV
Germline

Chr11:68939630

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6154054

rs_145631247

4 SubmittersRCV000873605 RCV001109811 RCV001552498

NM_004990.4(MARS1):c.680C>T (p.Thr227Ile)

SNV
Germline

Chr12:57490554

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
MARS1-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6650258

rs_73344082

4 SubmittersRCV000876998 RCV003930446 RCV005004463 RCV005659986

NM_022489.4(INF2):c.597C>T (p.Ser199=)

SNV
Germline

Chr14:104703384

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372336

rs_372269719

3 SubmittersRCV000872141 RCV001113742 RCV001311372

NM_022489.4(INF2):c.3654C>T (p.Thr1218=)

SNV
Germline

Chr14:104714816

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373336

rs_557462297

4 SubmittersRCV000874206 RCV001112659 RCV001811529

NM_001005361.3(DNM2):c.625C>T (p.Leu209=)

SNV
Germline

Chr19:10777153

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA305271551

rs_927749691

2 SubmittersRCV001125889 RCV001127995

NM_001005361.3(DNM2):c.1196+677G>A

SNV
Germline

Chr19:10796116

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA9201037

rs_763986985

4 SubmittersRCV000871964 RCV001430449 RCV002539122 RCV005418381

NM_181882.3(PRX):c.3963G>A (p.Glu1321=)

SNV
Germline

Chr19:40394389

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9443727

rs_781159482

2 SubmittersRCV001132593 RCV002539220

NM_030962.4(SBF2):c.3979-4G>A

SNV
Germline

Chr11:9812712

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
SBF2-related disorder

Criteria Provided
Conflicting Classifications

CA5881082

rs_375742620

3 SubmittersRCV001423303 RCV002354679 RCV003975457

NM_020631.6(PLEKHG5):c.288G>T (p.Lys96Asn)

SNV
Germline

Chr1:6475061

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561916

rs_575792064

3 SubmittersRCV000950961 RCV004768748 RCV005463192

NM_001605.3(AARS1):c.2053G>A (p.Val685Met)

SNV
Germline

Chr16:70258157

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8140575

rs_531257362

3 SubmittersRCV000948382 RCV002275174

NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)

SNV
Germline

Chr17:42543352

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8577003

rs_114605439

4 SubmittersRCV000966476 RCV001276829 RCV004792588

NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)

SNV
Germline

Chr17:42543470

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8577029

rs_140956564

3 SubmittersRCV000962592 RCV001124070 RCV006444844

NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)

SNV
Germline

Chr22:50454628

Conflicting classifications of pathogenicity

Condition: not provided
Tip-toe gait
Charcot-Marie-Tooth disease type 4B3
SBF1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10316077

rs_202049257

7 SubmittersRCV000963232 RCV002221258 RCV001804136 RCV003905858 RCV006444852

NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)

SNV
Germline

Chr17:42543407

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA8577015

rs_143938936

2 SubmittersRCV000893221 RCV001124068

NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)

SNV
Germline

Chr17:42543473

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8577030

rs_115550028

5 SubmittersRCV000893474 RCV001124071 RCV004649364 RCV005418395

NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)

SNV
Germline

Chr22:50462208

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3
SBF1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10317252

rs_199705951

5 SubmittersRCV000881459 RCV001002008 RCV003948312 RCV006302215

NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)

SNV
Germline

Chr14:101986553

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7351798

rs_144921184

5 SubmittersRCV000910404 RCV001114349 RCV001114350 RCV002445009 RCV006460105

NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)

SNV
Germline

Chr17:42543563

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder

Criteria Provided
Conflicting Classifications

CA8577051

rs_150905331

4 SubmittersRCV000899423 RCV001126733 RCV003950536

NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly)

SNV
Germline

Chr22:50456638

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3
SBF1-related disorder

Criteria Provided
Conflicting Classifications

CA10316467

rs_200718883

4 SubmittersRCV000905841 RCV001002009 RCV003910826

NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)

SNV
Germline

Chr22:50456656

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease X-linked dominant 1
SBF1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10316472

rs_201399007

8 SubmittersRCV000900485 RCV001804069 RCV003128421 RCV003950556 RCV005236412

NM_002972.4(SBF1):c.2785G>A (p.Val929Ile)

SNV
Germline

Chr22:50461577

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3
not specified

Criteria Provided
Conflicting Classifications

CA10317057

rs_370463792

4 SubmittersRCV000904393 RCV001001997 RCV005732223

NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)

SNV
Germline

Chr22:50462346

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4B3
not specified

Criteria Provided
Conflicting Classifications

CA10317293

rs_188976869

5 SubmittersRCV000904394 RCV001000701 RCV005722223

NM_002180.3(IGHMBP2):c.1236-5C>T

SNV
Germline

Chr11:68933294

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153584

rs_191443556

2 SubmittersRCV000910771 RCV002363361

NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu)

SNV
Germline

ChrX:130138637

Conflicting classifications of pathogenicity

Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4

No Assertion Criteria Provided

CA414581092

rs_1603224226

2 SubmittersRCV000907842 RCV003311910

NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser)

SNV
Germline

ChrX:130139869

Pathogenic

Charcot-Marie-Tooth disease X-linked recessive 4

No Assertion Criteria Provided

CA414582756

rs_1603224817

1 SubmittersRCV000907854

NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile)

SNV
Germline

ChrX:130147804

Pathogenic

Charcot-Marie-Tooth disease X-linked recessive 4

No Assertion Criteria Provided

CA414588971

rs_1603227409

1 SubmittersRCV000907858

NM_004208.4(AIFM1):c.727G>T (p.Val243Leu)

SNV
Germline

ChrX:130140587

Conflicting classifications of pathogenicity

Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4

No Assertion Criteria Provided

CA414583346

rs_1603225138

2 SubmittersRCV000907860 RCV003311911

NM_000530.8(MPZ):c.655C>T (p.Leu219=)

SNV
Germline

Chr1:161305968

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA421404108

rs_1571817225

2 SubmittersRCV001421599 RCV005243411

NM_021625.5(TRPV4):c.393G>A (p.Gln131=)

SNV
Germline

Chr12:109808462

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780552

rs_754924433

2 SubmittersRCV001438137 RCV003442131

NM_170707.4(LMNA):c.1969-4T>C

SNV
Germline

Chr1:156139076

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051906

rs_751715969

6 SubmittersRCV000921791 RCV001179743 RCV001702860 RCV001173404 RCV004807222

NM_014845.6(FIG4):c.876+8G>A

SNV
Germline

Chr6:109741552

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145136160

rs_923581334

2 SubmittersRCV000924522 RCV004546580

NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=)

SNV
Germline

Chr1:6468010

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA561088

rs_749891873

3 SubmittersRCV001099762 RCV001421628 RCV003411898

NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)

SNV
Germline

Chr9:127479970

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA5246788

rs_766701971

2 SubmittersRCV001168522

NM_001376.5(DYNC1H1):c.12639G>A (p.Arg4213=)

SNV
Germline

Chr14:102044000

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA488186620

rs_1289916492

2 SubmittersRCV000943971 RCV001404247

NM_022489.4(INF2):c.18C>T (p.Gly6=)

SNV
Germline

Chr14:104701383

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA267330306

rs_1032255653

2 SubmittersRCV000934943 RCV001112384

NM_000263.4(NAGLU):c.510C>T (p.Gly170=)

SNV
Germline

Chr17:42537524

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
not specified
Melanoma

Criteria Provided
Conflicting Classifications

CA8576776

rs_375661192

4 SubmittersRCV000929030 RCV001123006 RCV005432498 RCV005903163

NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)

SNV
Germline

Chr17:42544049

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA8577133

rs_115401566

3 SubmittersRCV000938787 RCV001127138

NM_001376.5(DYNC1H1):c.11056-10A>G

SNV
Germline

Chr14:102038688

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7353540

rs_751676054

2 SubmittersRCV001109326 RCV001114966

NM_001303256.3(MORC2):c.3031-4C>G

SNV
Germline

Chr22:30926875

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10186464

rs_373542143

2 SubmittersRCV001858590 RCV002434227

NM_170707.4(LMNA):c.937-5T>C

SNV
Germline

Chr1:156135896

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA31012911

rs_1001248677

4 SubmittersRCV000953808 RCV001180881 RCV001198844 RCV003169470

NM_001005361.3(DNM2):c.1782-6C>T

SNV
Germline

Chr19:10823782

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA305265975

rs_963604980

2 SubmittersRCV001125130 RCV001126096

NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg)

SNV
Germline

Chr9:127479852

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5246762

rs_140151379

5 SubmittersRCV000983889 RCV002261248 RCV002372703 RCV005912101

NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys)

SNV
Germline

Chr11:62690838

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6053326

rs_149990643

3 SubmittersRCV000983962 RCV001559073 RCV004030093

NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu)

SNV
Germline

Chr8:74364207

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2K

No Assertion Criteria Provided

CA371550539

rs_1586807529

1 SubmittersRCV000985190

NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)

SNV
Germline

Chr19:40395267

Likely pathogenic

Charcot-Marie-Tooth disease type 4F

No Assertion Criteria Provided

CA405894987

rs_1599651726

1 SubmittersRCV000985146

NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp)

SNV
Germline

Chr14:101980463

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA391010039

rs_2047850664

5 SubmittersRCV001030994 RCV001858605 RCV002372705

NM_006096.4(NDRG1):c.944-1G>T

SNV
Germline

Chr8:133239120

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372254669

rs_1588216753

3 SubmittersRCV000985080 RCV001509350

NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)

SNV
Germline

Chr1:11989187

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA338459151

rs_1557515779

2 SubmittersRCV000986240 RCV005056713

NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)

SNV
Germline

Chr1:11998786

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA338437768

rs_1569842296

3 SubmittersRCV000986243 RCV005056714

NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)

SNV
Germline

Chr1:11998808

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA338437954

rs_1557524703

2 SubmittersRCV000986244 RCV006464893

NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)

SNV
Unknown

Chr1:12001423

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA338441499

rs_28940294

1 SubmittersRCV000986245

NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)

SNV
Germline

Chr1:12002034

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA338442906

rs_879254011

4 SubmittersRCV000986247 RCV001363203 RCV003331013

NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)

SNV
Germline

Chr8:74360181

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Multiple Submitters
No Conflicts

CA179735048

rs_936681187

3 SubmittersRCV000988073

NM_001358263.1(HK1):c.1A>G (p.Met1Val)

SNV
Unknown

Chr10:69288744

Likely pathogenic

Charcot-Marie-Tooth disease type 4G

Criteria Provided
Single Submitter

CA376908326

rs_1589439508

1 SubmittersRCV000988372

NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter)

SNV
Unknown

Chr11:9785153

Pathogenic

Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Single Submitter

CA379631494

rs_1590076969

1 SubmittersRCV000988487

NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn)

SNV
Unknown

Chr14:101980533

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391010471

rs_1595597963

1 SubmittersRCV000989260

NM_001376.5(DYNC1H1):c.3961-2A>G

SNV
Unknown

Chr14:102000284

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391038936

rs_1595608413

1 SubmittersRCV000989261

NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met)

SNV
Unknown

Chr14:102030189

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391017961

rs_373682811

1 SubmittersRCV000989264

NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)

SNV
Germline

Chr17:42541096

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
not specified

Criteria Provided
Conflicting Classifications

CA399600193

rs_1599258487

3 SubmittersRCV000989852 RCV002549732 RCV005408614

NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)

SNV
Germline

Chr17:42541189

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399600389

rs_768918822

2 SubmittersRCV000989853 RCV002549733

NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)

SNV
Germline

Chr22:30958684

Pathogenic

Condition: not provided
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
MORC2-related neurodevelopmental disorders
Charcot-Marie-Tooth disease axonal type 2Z
Neurodevelopmental disorder
Inborn genetic diseases
MORC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA411534716

rs_1602510200

15 SubmittersRCV000991068 RCV001281381 RCV001796981 RCV002249596 RCV002272381 RCV002549755 RCV003432987

NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)

SNV
Germline

Chr22:30958692

Likely pathogenic

Condition: not provided
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Multiple Submitters
No Conflicts

CA411534742

rs_1602510214

4 SubmittersRCV000991193 RCV001281380 RCV003333113

NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)

SNV
Germline

Chr1:156114998

Likely pathogenic

Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342807313

rs_863225270

2 SubmittersRCV000991275 RCV005092985

NM_001303256.3(MORC2):c.292G>A (p.Gly98Arg)

SNV
Germline

Chr22:30949777

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Conflicting Classifications

CA411245055

rs_1602499631

2 SubmittersRCV000991279 RCV006612528

NM_021076.4(NEFH):c.883+1G>C

SNV
Germline

Chr22:29481146

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA411124311

rs_1602961831

1 SubmittersRCV000991290

NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)

SNV
Germline

Chr1:161307281

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA1210214

rs_573007540

3 SubmittersRCV000992319 RCV001173704 RCV001869373

NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr)

SNV
Germline

Chr3:128807609

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2B

Criteria Provided
Conflicting Classifications

CA354709450

rs_1576304176

3 SubmittersRCV000992739 RCV001858754

NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)

SNV
Germline

Chr5:149012645

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA3498842

rs_537759361

8 SubmittersRCV000992972 RCV001173831 RCV001321191 RCV002320205 RCV005036265 RCV005418949

NM_002047.4(GARS1):c.843G>A (p.Met281Ile)

SNV
Germline

Chr7:30609692

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4205835

rs_545669679

3 SubmittersRCV000992026 RCV001337244 RCV004030136

NM_006158.5(NEFL):c.865G>T (p.Glu289Ter)

SNV
Germline

Chr8:24955651

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA370621452

rs_1586128143

2 SubmittersRCV000992441 RCV001858751

NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)

SNV
Germline

Chr14:104713288

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA267330080

rs_942393807

5 SubmittersRCV000992178 RCV001038854 RCV002434377 RCV006455311

NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg)

SNV
Germline

Chr19:10786658

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA9200933

rs_148105340

2 SubmittersRCV000991917 RCV001858743

NM_170707.4(LMNA):c.1182C>T (p.Thr394=)

SNV
Germline

Chr1:156136238

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421257939

rs_1409406468

4 SubmittersRCV000994134 RCV001439975 RCV002337050 RCV006545745

NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter)

SNV
Germline

Chr6:109765025

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA365227481

rs_1228223508

2 SubmittersRCV000998668 RCV003744687

NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln)

SNV
Germline

Chr7:76303844

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA367765485

rs_863225022

3 SubmittersRCV000998811 RCV002549107

NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)

SNV
Germline

Chr9:127479907

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA199848714

rs_940085400

3 SubmittersRCV000999212 RCV001168521

NM_001376.5(DYNC1H1):c.10608A>C (p.Leu3536=)

SNV
Germline

Chr14:102034170

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA266970041

rs_1034994263

2 SubmittersRCV000995257 RCV002067609

NM_022489.4(INF2):c.3734T>C (p.Leu1245Pro)

SNV
Germline

Chr14:104715323

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA391226291

rs_761808106

2 SubmittersRCV000995264 RCV002549903

NM_001605.3(AARS1):c.2505C>T (p.Ala835=)

SNV
Germline

Chr16:70253934

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8140393

rs_769571173

2 SubmittersRCV000996296 RCV002236062

NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)

SNV
Germline

Chr16:70258213

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 29
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8140589

rs_145056270

4 SubmittersRCV000996298 RCV001523784 RCV002236063

NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn)

SNV
Germline

Chr17:42538438

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder

Criteria Provided
Conflicting Classifications

CA8576803

rs_145452809

4 SubmittersRCV000996549 RCV002068728 RCV003411940

NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)

SNV
Germline

Chr17:42543629

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder

Criteria Provided
Conflicting Classifications

CA8577063

rs_146438251

4 SubmittersRCV000996552 RCV001450300 RCV001832314 RCV003928646

NM_001005361.3(DNM2):c.1196+658C>T

SNV
Germline

Chr19:10796097

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA915951674

rs_1599569966

2 SubmittersRCV000996742 RCV005093008

NM_021076.4(NEFH):c.1036C>T (p.Arg346Cys)

SNV
Germline

Chr22:29483527

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2CC

Criteria Provided
Conflicting Classifications

CA10174092

rs_139219355

5 SubmittersRCV000997896 RCV002391062 RCV003132133

NM_005391.5(PDK3):c.485G>A (p.Arg162His)

SNV
Germline

ChrX:24503491

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 6

Criteria Provided
Conflicting Classifications

CA412605485

rs_867468579

4 SubmittersRCV000999356 RCV001211863

NM_022489.4(INF2):c.529C>T (p.Arg177Cys)

SNV
Germline

Chr14:104703316

Pathogenic/Likely pathogenic

Focal segmental glomerulosclerosis 5
INF2-related disorder
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Multiple Submitters
No Conflicts

CA391213198

rs_1595166085

5 SubmittersRCV000995568 RCV004731076 RCV006556878

NM_001605.3(AARS1):c.988C>T (p.Arg330Ter)

SNV
Germline

Chr16:70268354

Pathogenic

Developmental and epileptic encephalopathy, 29
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8140958

rs_758183257

2 SubmittersRCV000995471 RCV002236061

NM_002972.4(SBF1):c.3826+1G>A

SNV
Germline

Chr22:50459254

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4B3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA325531587

rs_1009209509

4 SubmittersRCV000995635 RCV001531987

NM_181882.3(PRX):c.27+1G>T

SNV
Germline

Chr19:40407905

Pathogenic

Charcot-Marie-Tooth disease type 4F
PRX-related disorder

Criteria Provided
Single Submitter

CA405902026

rs_146342432

2 SubmittersRCV001030788 RCV004702566

NM_001605.3(AARS1):c.72G>A (p.Thr24=)

SNV
Germline

Chr16:70282692

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8141233

rs_780609058

2 SubmittersRCV000999720 RCV002236011

NM_000530.8(MPZ):c.646-3C>G

SNV
Germline

Chr1:161305980

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA1210077

rs_750756212

4 SubmittersRCV001002395 RCV001058977 RCV004697022 RCV005871104

NM_022489.4(INF2):c.2765G>A (p.Arg922His)

SNV
Germline

Chr14:104712982

Conflicting classifications of pathogenicity

not specified
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373060

rs_749197190

3 SubmittersRCV001000886 RCV001860500 RCV002434390

NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala)

SNV
Germline

Chr17:77492700

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided
Amyotrophic neuralgia
not specified

Criteria Provided
Conflicting Classifications

CA8793800

rs_376712636

8 SubmittersRCV001002747 RCV001585911 RCV005394616 RCV005432527

NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)

SNV
Germline

ChrX:71224093

Conflicting classifications of pathogenicity

Cerebellar ataxia
Charcot-Marie-Tooth Neuropathy X
Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA413502116

rs_1602349280

5 SubmittersRCV001002786 RCV001064177 RCV001289397 RCV002221159

NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)

SNV
Germline

Chr5:149028020

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361667885

rs_1580900970

1 SubmittersRCV001007463

NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val)

SNV
Germline

Chr17:42543495

Pathogenic

Mucopolysaccharidosis
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399603981

rs_1353058781

2 SubmittersRCV001030811 RCV001862440

NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)

SNV
Germline

Chr5:149026989

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498937

rs_141783628

4 SubmittersRCV001034432 RCV001289213 RCV002434423

NM_001376.5(DYNC1H1):c.11365A>G (p.Ile3789Val)

SNV
Germline

Chr14:102039159

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391033575

rs_1177877033

3 SubmittersRCV001034529 RCV003313171 RCV004030932

NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)

SNV
Germline

Chr14:102040605

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353766

rs_150118849

4 SubmittersRCV001034513 RCV001112120 RCV002337080 RCV003222199

NM_001365951.3(KIF1B):c.1393A>T (p.Met465Leu)

SNV
Germline

Chr1:10282492

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA17842027

rs_560710521

2 SubmittersRCV001036382 RCV004030979

NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)

SNV
Germline

Chr1:10295758

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA581069

rs_768672234

4 SubmittersRCV001040567 RCV001173592 RCV003238278 RCV004031144

NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg)

SNV
Germline

Chr1:10295759

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA581071

rs_139764209

3 SubmittersRCV001045927 RCV004031417 RCV005047235

NM_001365951.3(KIF1B):c.3628A>C (p.Asn1210His)

SNV
Germline

Chr1:10342164

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581823

rs_779559577

2 SubmittersRCV001045147 RCV004031386

NM_001365951.3(KIF1B):c.4522A>G (p.Thr1508Ala)

SNV
Germline

Chr1:10365418

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA582111

rs_78662124

3 SubmittersRCV001045265 RCV004031390 RCV004809006

NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)

SNV
Germline

Chr1:10374960

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Pheochromocytoma
Charcot-Marie-Tooth disease type 2A1
not specified

Criteria Provided
Conflicting Classifications

CA582287

rs_775692548

4 SubmittersRCV001060670 RCV003153921 RCV003485679 RCV004031927

NM_001365951.3(KIF1B):c.5236A>C (p.Asn1746His)

SNV
Germline

Chr1:10374993

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA582295

rs_556099463

2 SubmittersRCV001048355 RCV004031502

NM_001365951.3(KIF1B):c.5324G>A (p.Arg1775His)

SNV
Germline

Chr1:10375289

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Gait ataxia

Criteria Provided
Conflicting Classifications

CA582318

rs_374303355

3 SubmittersRCV001061292 RCV004031952 RCV005621076

NM_014874.4(MFN2):c.629A>G (p.Asp210Gly)

SNV
Germline

Chr1:11998799

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Neuropathy, hereditary motor and sensory, type 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA338437864

rs_1639043704

2 SubmittersRCV001036451 RCV004789371

NM_014874.4(MFN2):c.658G>A (p.Ala220Thr)

SNV
Germline

Chr1:11998828

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338438158

rs_1639045345

2 SubmittersRCV001051302 RCV002221157

NM_014874.4(MFN2):c.667T>C (p.Phe223Leu)

SNV
Germline

Chr1:11998837

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Conflicting Classifications

CA338438267

rs_1639045962

2 SubmittersRCV001037085 RCV001331979

NM_014874.4(MFN2):c.731T>G (p.Val244Gly)

SNV
Germline

Chr1:11999010

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438995

rs_1060501921

1 SubmittersRCV001066912

NM_014874.4(MFN2):c.765C>G (p.Ile255Met)

SNV
Germline

Chr1:11999044

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA598917

rs_376327713

2 SubmittersRCV001056047 RCV004773268

NM_014874.4(MFN2):c.880C>T (p.Arg294Ter)

SNV
Germline

Chr1:12001464

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA18010000

rs_866604005

2 SubmittersRCV001062964 RCV002290578

NM_014874.4(MFN2):c.1083C>G (p.His361Gln)

SNV
Germline

Chr1:12002026

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338442865

rs_1639197832

2 SubmittersRCV001071615 RCV003444775

NM_014874.4(MFN2):c.1145C>T (p.Ala382Val)

SNV
Germline

Chr1:12002088

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA599015

rs_201165591

1 SubmittersRCV001037498

NM_014874.4(MFN2):c.1451C>T (p.Thr484Met)

SNV
Germline

Chr1:12004883

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA599123

rs_375480365

3 SubmittersRCV001072049 RCV002393347 RCV005863350

NM_170707.4(LMNA):c.274C>G (p.Leu92Val)

SNV
Germline

Chr1:156115192

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342808563

rs_267607560

3 SubmittersRCV001054035 RCV001170450 RCV004031698

NM_170707.4(LMNA):c.409C>G (p.Leu137Val)

SNV
Germline

Chr1:156130669

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA342815251

rs_747998566

2 SubmittersRCV001064120 RCV001253095

NM_170707.4(LMNA):c.659G>A (p.Arg220His)

SNV
Germline

Chr1:156134824

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Congenital muscular dystrophy due to LMNA mutation
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA054066

rs_780066296

6 SubmittersRCV001062157 RCV001181352 RCV002365743 RCV002462304 RCV003989636 RCV004000123

NM_170707.4(LMNA):c.1304G>A (p.Arg435His)

SNV
Germline

Chr1:156136360

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Criteria Provided
Conflicting Classifications

CA342821813

rs_1263919141

4 SubmittersRCV001054840 RCV003130131 RCV003458326 RCV003333129

NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys)

SNV
Germline

Chr1:156136424

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822254

rs_61235244

1 SubmittersRCV001044424

NM_170707.4(LMNA):c.1645G>A (p.Val549Met)

SNV
Germline

Chr1:156137690

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050866

rs_781774834

2 SubmittersRCV001040478 RCV001525577

NM_000530.8(MPZ):c.700G>T (p.Glu234Ter)

SNV
Germline

Chr1:161305923

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343344128

rs_1670224976

2 SubmittersRCV001041106 RCV001805988

NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)

SNV
Germline

Chr1:161306753

Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA343348638

rs_879253858

2 SubmittersRCV001068529 RCV003152749

NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr)

SNV
Germline

Chr1:161306824

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343349294

rs_1553259663

1 SubmittersRCV001063999

NM_000530.8(MPZ):c.113T>A (p.Val38Asp)

SNV
Germline

Chr1:161307379

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343351458

rs_1670288801

1 SubmittersRCV001066303

NM_000530.8(MPZ):c.109G>A (p.Glu37Lys)

SNV
Germline

Chr1:161307383

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343351491

rs_1670288858

2 SubmittersRCV001048070 RCV005626311

NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys)

SNV
Germline

Chr1:32779423

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA744896

rs_142142194

4 SubmittersRCV001058979 RCV002462297 RCV003153917

NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)

SNV
Germline

Chr1:32817205

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA745321

rs_763337272

5 SubmittersRCV001069984 RCV001579564 RCV002462320 RCV005408678

NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)

SNV
Germline

Chr2:219280601

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 5
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA350646471

rs_1951895452

2 SubmittersRCV001062107 RCV001173145

NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)

SNV
Germline

Chr3:128807614

Pathogenic

Charcot-Marie-Tooth disease type 2B

Criteria Provided
Single Submitter

CA354709460

rs_121909081

1 SubmittersRCV001049977

NM_007289.4(MME):c.202C>T (p.Arg68Ter)

SNV
Germline

Chr3:155114999

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA2675077

rs_201692212

6 SubmittersRCV001056048 RCV001255622

NM_021629.4(GNB4):c.592A>T (p.Thr198Ser)

SNV
Germline

Chr3:179413519

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2712461

rs_776836938

2 SubmittersRCV001068348 RCV002355093

NM_021629.4(GNB4):c.227A>G (p.Asp76Gly)

SNV
Germline

Chr3:179416533

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate F

Criteria Provided
Single Submitter

CA355470468

rs_1714805406

1 SubmittersRCV001035012

NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)

SNV
Germline

Chr3:179419433

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate F
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355471050

rs_1714910248

2 SubmittersRCV001061902 RCV002512135

NM_015271.5(TRIM2):c.417G>A (p.Ala139=)

SNV
Germline

Chr4:153276094

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2R
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3108523

rs_534011584

2 SubmittersRCV001066205 RCV004693565

NM_015271.5(TRIM2):c.2265G>A (p.Val755=)

SNV
Germline

Chr4:153334915

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2R
Condition: not provided

Criteria Provided
Conflicting Classifications

CA441781005

rs_1180600606

2 SubmittersRCV001040631 RCV002275186

NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg)

SNV
Germline

Chr5:149010292

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498784

rs_187975909

2 SubmittersRCV001037227 RCV003243407

NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro)

SNV
Germline

Chr5:149026874

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498923

rs_369278337

3 SubmittersRCV001061215 RCV001507652 RCV002436642

NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)

SNV
Germline

Chr5:149027876

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA361667583

rs_1196218767

3 SubmittersRCV001068642 RCV001760047 RCV003225146

NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)

SNV
Germline

Chr5:149041468

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA3499438

rs_532463685

2 SubmittersRCV001069484 RCV001174040

NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)

SNV
Germline

Chr5:149044543

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA361676525

rs_1754425732

4 SubmittersRCV001044557 RCV002473175 RCV005036324

NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys)

SNV
Germline

Chr5:149047876

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499583

rs_142488510

3 SubmittersRCV001048827 RCV001553105 RCV002429629

NM_002047.4(GARS1):c.1001T>G (p.Ile334Ser)

SNV
Germline

Chr7:30612215

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA367125517

rs_1554338262

1 SubmittersRCV001034922

NM_002047.4(GARS1):c.1172G>A (p.Arg391His)

SNV
Germline

Chr7:30616036

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA4205910

rs_199832199

2 SubmittersRCV001034988 RCV004030944

NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)

SNV
Germline

Chr7:30626314

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2D
Distal spinal muscular atrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4206026

rs_200726600

5 SubmittersRCV001035448 RCV001161101 RCV001162652 RCV001161102 RCV003736961 RCV004030955

NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)

SNV
Germline

Chr8:133250534

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372255479

rs_1855957969

1 SubmittersRCV001048631

NM_006158.5(NEFL):c.32C>A (p.Ser11Ter)

SNV
Germline

Chr8:24956484

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

CA370624251

rs_766951637

1 SubmittersRCV001057496

NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)

SNV
Germline

Chr8:74351349

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Conflicting Classifications

CA371499402

rs_1808862287

2 SubmittersRCV001055622

NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)

SNV
Germline

Chr8:74364107

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4785204

rs_150989205

3 SubmittersRCV001053475 RCV004720056

NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr)

SNV
Germline

Chr9:127489447

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246956

rs_202166023

4 SubmittersRCV001043406 RCV001172640 RCV005652493

NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp)

SNV
Germline

Chr9:127489501

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246973

rs_376468970

3 SubmittersRCV001070341 RCV001560780 RCV002393337

NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=)

SNV
Germline

Chr9:127495418

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467234238

rs_1256215388

2 SubmittersRCV001037600 RCV001311022

NM_000399.5(EGR2):c.1231G>A (p.Asp411Asn)

SNV
Germline

Chr10:62813407

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
EGR2-related disorder

Criteria Provided
Conflicting Classifications

CA377027304

rs_1842163821

2 SubmittersRCV001057831 RCV005866775

NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)

SNV
Germline

Chr11:68906198

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381642538

rs_755468547

1 SubmittersRCV001038862

NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)

SNV
Germline

Chr11:68914995

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

CA6153423

rs_759987473

1 SubmittersRCV001044314

NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)

SNV
Germline

Chr11:68929252

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified

Criteria Provided
Conflicting Classifications

CA6153529

rs_760811074

2 SubmittersRCV001053692 RCV005432549

NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)

SNV
Germline

Chr11:68933369

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6153600

rs_138327042

4 SubmittersRCV001062368 RCV001760027 RCV002379584 RCV005408667

NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)

SNV
Germline

Chr11:68933391

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
not specified

Criteria Provided
Conflicting Classifications

CA6153605

rs_757304363

3 SubmittersRCV001071082 RCV004597557 RCV005408680

NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)

SNV
Germline

Chr11:68933865

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6153665

rs_764111837

2 SubmittersRCV001037478 RCV004720044

NM_030962.4(SBF2):c.2668C>T (p.Arg890Ter)

SNV
Germline

Chr11:9850161

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379635704

rs_1413469900

1 SubmittersRCV001046934

NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu)

SNV
Germline

Chr12:109783628

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6779847

rs_756526036

2 SubmittersRCV001051754 RCV004031613

NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly)

SNV
Germline

Chr12:109798823

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386654876

rs_267607143

1 SubmittersRCV001064018

NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys)

SNV
Germline

Chr12:109808320

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6780522

rs_751647405

4 SubmittersRCV001048344 RCV002348385 RCV001811630 RCV005436968

NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)

SNV
Germline

Chr12:119179426

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2L
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6819498

rs_141871482

3 SubmittersRCV001060278 RCV002451256 RCV004693547

NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)

SNV
Germline

Chr12:32598509

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA384357037

rs_201676628

1 SubmittersRCV001037627

NM_004990.4(MARS1):c.986C>A (p.Pro329His)

SNV
Germline

Chr12:57498518

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
not specified

Criteria Provided
Conflicting Classifications

CA6650376

rs_145260922

2 SubmittersRCV001065595 RCV004030587

NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)

SNV
Germline

Chr12:57514992

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
MARS1-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6650720

rs_200011880

5 SubmittersRCV001049683 RCV003413848 RCV004031548 RCV005232083

NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)

SNV
Germline

Chr14:101979867

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351561

rs_757819428

4 SubmittersRCV001051951 RCV002281157 RCV004619492

NM_001376.5(DYNC1H1):c.694T>C (p.Phe232Leu)

SNV
Germline

Chr14:101979894

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391008737

rs_1301539761

2 SubmittersRCV001045247 RCV006347337

NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)

SNV
Germline

Chr14:101985903

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391018968

rs_2047931446

1 SubmittersRCV001047378

NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)

SNV
Germline

Chr14:101986599

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351806

rs_752495590

2 SubmittersRCV001064236 RCV002451277

NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)

SNV
Germline

Chr14:102002850

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266995847

rs_200700087

3 SubmittersRCV001071334 RCV001772307 RCV002554624

NM_001376.5(DYNC1H1):c.6539A>C (p.Glu2180Ala)

SNV
Germline

Chr14:102010873

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA7352634

rs_377618857

2 SubmittersRCV001069445 RCV006453533

NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)

SNV
Germline

Chr14:102015315

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7352761

rs_566204008

4 SubmittersRCV001039887 RCV001569151 RCV002372766 RCV003396639

NM_001376.5(DYNC1H1):c.7297G>A (p.Val2433Ile)

SNV
Germline

Chr14:102015910

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA266952054

rs_1011204533

2 SubmittersRCV001056319 RCV001538867

NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)

SNV
Germline

Chr14:102027725

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353171

rs_774806132

3 SubmittersRCV001070027 RCV001113468 RCV002374993

NM_001376.5(DYNC1H1):c.9797A>T (p.Lys3266Met)

SNV
Germline

Chr14:102030196

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353303

rs_765825369

3 SubmittersRCV001047914 RCV001585944 RCV002379531

NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)

SNV
Germline

Chr14:102038538

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353518

rs_200204286

2 SubmittersRCV001060148 RCV004031910

NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)

SNV
Germline

Chr14:102039202

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353582

rs_571126286

2 SubmittersRCV001040427 RCV003442154

NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)

SNV
Germline

Chr14:102039726

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353688

rs_771563083

3 SubmittersRCV001067018 RCV001291692 RCV006347386

NM_022489.4(INF2):c.271C>G (p.Arg91Gly)

SNV
Germline

Chr14:104701636

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA391225705

rs_200247054

2 SubmittersRCV001043794 RCV002429600

NM_022489.4(INF2):c.580G>A (p.Val194Met)

SNV
Germline

Chr14:104703367

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372334

rs_368298329

2 SubmittersRCV001039827 RCV002354994

NM_022489.4(INF2):c.1139A>G (p.Lys380Arg)

SNV
Germline

Chr14:104707406

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372515

rs_762096939

4 SubmittersRCV001071100 RCV001112033 RCV002320352 RCV003132215

NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)

SNV
Germline

Chr14:104707475

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391216143

rs_1356183663

4 SubmittersRCV001070076 RCV001508743 RCV002348481

NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)

SNV
Germline

Chr14:104707531

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
INF2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372540

rs_767748953

5 SubmittersRCV001067341 RCV001112035 RCV002445347 RCV003425910 RCV004792713

NM_022489.4(INF2):c.1279C>A (p.Pro427Thr)

SNV
Germline

Chr14:104707546

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391216445

rs_1208616690

2 SubmittersRCV001041213 RCV005243455

NM_022489.4(INF2):c.1348G>C (p.Gly450Arg)

SNV
Germline

Chr14:104707615

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA391216680

rs_572969666

2 SubmittersRCV001069171

NM_022489.4(INF2):c.1405A>G (p.Met469Val)

SNV
Germline

Chr14:104707672

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391216885

rs_1461056808

3 SubmittersRCV001037619 RCV004031039 RCV005641942

NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)

SNV
Germline

Chr14:104710134

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372854

rs_533208785

2 SubmittersRCV001040856 RCV003363058

NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)

SNV
Germline

Chr14:104710153

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372859

rs_375390523

3 SubmittersRCV001045820 RCV002429612

NM_022489.4(INF2):c.2410G>A (p.Val804Met)

SNV
Germline

Chr14:104711178

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372904

rs_199979156

2 SubmittersRCV001060682

NM_022489.4(INF2):c.2629C>T (p.Arg877Trp)

SNV
Germline

Chr14:104712846

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373026

rs_762706488

2 SubmittersRCV001050236 RCV003405252

NM_022489.4(INF2):c.2767G>A (p.Ala923Thr)

SNV
Germline

Chr14:104712984

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373062

rs_774099930

4 SubmittersRCV001038939 RCV001759735

NM_022489.4(INF2):c.3013A>G (p.Met1005Val)

SNV
Germline

Chr14:104713579

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373149

rs_368569489

3 SubmittersRCV001036838 RCV002434430 RCV004693456

NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser)

SNV
Germline

Chr14:104714215

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391223355

rs_1249757355

3 SubmittersRCV001041937 RCV006279306

NM_022489.4(INF2):c.3583G>A (p.Glu1195Lys)

SNV
Germline

Chr14:104714745

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA391225336

rs_1064796974

2 SubmittersRCV001037846

NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)

SNV
Germline

Chr14:104714760

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373314

rs_764338863

3 SubmittersRCV001066305 RCV003259078

NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr15:34261000

Pathogenic/Likely pathogenic

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Multiple Submitters
No Conflicts

CA268643754

rs_1054429141

3 SubmittersRCV001036766 RCV003473615 RCV005012462

NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)

SNV
Germline

Chr15:44585746

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534517

rs_141011688

3 SubmittersRCV001045168 RCV001759961 RCV002468119 RCV002468120

NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)

SNV
Germline

Chr15:44589285

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
not specified

Criteria Provided
Conflicting Classifications

CA7534565

rs_371716779

5 SubmittersRCV001042695 RCV001759744 RCV002339213 RCV002468115 RCV002468114 RCV006455360

NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)

SNV
Germline

Chr15:44600595

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534902

rs_201902382

6 SubmittersRCV001065139 RCV001287997 RCV002339328 RCV002468140 RCV002468141

NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)

SNV
Germline

Chr15:44651563

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535567

rs_139019255

5 SubmittersRCV001063652 RCV001862795 RCV002393309 RCV002468135 RCV002468136

NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)

SNV
Germline

Chr15:44651826

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535617

rs_144403346

3 SubmittersRCV001045167 RCV001759765 RCV002468117 RCV002468118

NM_001605.3(AARS1):c.1007A>G (p.His336Arg)

SNV
Germline

Chr16:70268335

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Developmental and epileptic encephalopathy, 29
Trichothiodystrophy 8, nonphotosensitive

Criteria Provided
Conflicting Classifications

CA283438550

rs_1025002934

2 SubmittersRCV001070788 RCV004731088

NM_001605.3(AARS1):c.58A>G (p.Arg20Gly)

SNV
Germline

Chr16:70282706

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141240

rs_770697148

2 SubmittersRCV001056690 RCV002462296

NM_000304.4(PMP22):c.351C>A (p.Tyr117Ter)

SNV
Germline

Chr17:15231049

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398739762

rs_1906290133

1 SubmittersRCV001050022

NM_000304.4(PMP22):c.35A>G (p.His12Arg)

SNV
Germline

Chr17:15260693

Pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA398271731

rs_1909248652

3 SubmittersRCV001036010 RCV001548774 RCV006250912

NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)

SNV
Germline

Chr17:42538692

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
not specified

Criteria Provided
Conflicting Classifications

CA399598923

rs_886042073

2 SubmittersRCV001065857 RCV005913575

NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)

SNV
Germline

Chr17:42541111

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399600227

rs_1305299665

3 SubmittersRCV001043921 RCV003155343

NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)

SNV
Germline

Chr17:42544165

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8577152

rs_774971794

4 SubmittersRCV001037469 RCV001593198 RCV002551385

NM_000371.4(TTR):c.252T>G (p.Phe84Leu)

SNV
Germline

Chr18:31595171

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA402156987

rs_2073510805

4 SubmittersRCV001048418 RCV001173295 RCV005367683

NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)

SNV
Germline

Chr19:10829172

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA9201543

rs_375577182

3 SubmittersRCV001069302 RCV004619509 RCV005913592

NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)

SNV
Germline

Chr19:40394451

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443748

rs_749251511

3 SubmittersRCV001039423 RCV001173951 RCV002354991

NM_181882.3(PRX):c.3673G>A (p.Val1225Met)

SNV
Germline

Chr19:40394679

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9443813

rs_140880177

3 SubmittersRCV001039383 RCV001135980 RCV005255641

NM_181882.3(PRX):c.2463C>T (p.Gly821=)

SNV
Germline

Chr19:40395889

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Tip-toe gait
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444050

rs_368481955

3 SubmittersRCV001048723 RCV002051589 RCV003883497

NM_181882.3(PRX):c.2098G>A (p.Ala700Thr)

SNV
Germline

Chr19:40396254

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA405897010

rs_1160407003

2 SubmittersRCV001064388 RCV004030535

NM_181882.3(PRX):c.607C>T (p.Gln203Ter)

SNV
Germline

Chr19:40397745

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA405900032

rs_2079456028

1 SubmittersRCV001037080

NM_030973.4(MED25):c.309C>A (p.Phe103Leu)

SNV
Germline

Chr19:49828452

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neurodevelopmental delay
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA309512419

rs_918394135

3 SubmittersRCV001059136 RCV002274129 RCV005367696

NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)

SNV
Germline

Chr20:10641154

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764325

rs_781509375

3 SubmittersRCV001047259 RCV002497386 RCV004553584

NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)

SNV
Germline

Chr20:10641584

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764393

rs_368032094

2 SubmittersRCV001044255 RCV002481911

NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)

SNV
Germline

Chr20:10651586

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
JAG1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9764979

rs_772669312

5 SubmittersRCV001053508 RCV002436610 RCV005036347 RCV004553593 RCV005436971

NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg)

SNV
Germline

Chr21:46119087

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA10071776

rs_762490709

2 SubmittersRCV001070881 RCV005626324

NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)

SNV
Germline

Chr22:30942180

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10187232

rs_144248516

3 SubmittersRCV001035925 RCV002337085 RCV005243452

NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)

SNV
Germline

Chr22:30942240

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
not specified

Criteria Provided
Conflicting Classifications

CA10187242

rs_768748502

2 SubmittersRCV001053889 RCV005436972

NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)

SNV
Germline

ChrX:71223749

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA413499512

rs_1262031967

2 SubmittersRCV001310077 RCV001058722

NM_014874.4(MFN2):c.708+1G>A

SNV
Germline

Chr1:11998879

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Uterine corpus endometrial carcinoma

Criteria Provided
Single Submitter

CA338438673

rs_1639048523

2 SubmittersRCV001044638 RCV005912461

NM_170707.4(LMNA):c.639+1G>T

SNV
Germline

Chr1:156134529

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342817104

rs_869125101

2 SubmittersRCV001065501 RCV002355077

NM_170707.4(LMNA):c.1488+1G>T

SNV
Germline

Chr1:156137029

Pathogenic

Charcot-Marie-Tooth disease type 2
Melanoma

Criteria Provided
Single Submitter

CA342822851

rs_267607640

2 SubmittersRCV001048954 RCV005912494

NM_170707.4(LMNA):c.937-9C>A

SNV
Germline

Chr1:156135892

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA916080235

rs_1332011298

2 SubmittersRCV001068265 RCV004000174

NM_170707.4(LMNA):c.1158-1G>T

SNV
Germline

Chr1:156136213

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820746

rs_1651598289

1 SubmittersRCV001049778

NM_014845.6(FIG4):c.447-2A>C

SNV
Germline

Chr6:109732635

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365218271

rs_866895236

1 SubmittersRCV001041528

NM_001376.5(DYNC1H1):c.9642+4C>T

SNV
Germline

Chr14:102029716

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA7353255

rs_773101138

3 SubmittersRCV001046998 RCV002372799 RCV002505583

NM_001303256.3(MORC2):c.227-5T>C

SNV
Germline

Chr22:30949847

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10187306

rs_763643471

2 SubmittersRCV001071351 RCV003283962

NM_006096.4(NDRG1):c.891+2T>C

SNV
Germline

Chr8:133244353

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372254809

rs_1586407193

1 SubmittersRCV001065004

NM_001122955.4(BSCL2):c.486+1G>A

SNV
Germline

Chr11:62702467

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy
Neuronopathy, distal hereditary motor, type 5C

Criteria Provided
Multiple Submitters
No Conflicts

CA380968228

rs_1011200048

3 SubmittersRCV001047252 RCV001784598 RCV005049743

NM_006096.4(NDRG1):c.595-2A>T

SNV
Germline

Chr8:133250545

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA4886661

rs_758718584

1 SubmittersRCV001040768

NM_030962.4(SBF2):c.5037+1G>C

SNV
Germline

Chr11:9787633

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379632418

rs_1060499999

1 SubmittersRCV001035494

NM_001005373.4(LRSAM1):c.1348-6T>A

SNV
Germline

Chr9:127489438

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5246952

rs_200130803

3 SubmittersRCV001070362 RCV001776116 RCV004689985

NM_030962.4(SBF2):c.3653-1G>A

SNV
Germline

Chr11:9829497

Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Multiple Submitters
No Conflicts

CA5881196

rs_145183196

2 SubmittersRCV001061866 RCV003479276

NM_000263.4(NAGLU):c.531+1G>A

SNV
Germline

Chr17:42537546

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399598318

rs_1245939928

2 SubmittersRCV001059597 RCV001832535

NM_181882.3(PRX):c.184+2T>C

SNV
Germline

Chr19:40403704

Likely pathogenic

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA405901695

rs_2079511684

2 SubmittersRCV001046029 RCV003363067

NM_001005361.3(DNM2):c.1893+1G>A

SNV
Germline

Chr19:10823900

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA404041226

rs_2073061878

2 SubmittersRCV001260936 RCV002557945

NM_000530.8(MPZ):c.361G>A (p.Asp121Asn)

SNV
Germline

Chr1:161306795

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343349091

rs_1670263519

2 SubmittersRCV001093012 RCV001856276

NM_024577.4(SH3TC2):c.805+2T>C

SNV
Germline

Chr5:149040602

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA128996448

rs_139052887

4 SubmittersRCV001092868 RCV001216729 RCV002290598

NM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln)

SNV
Germline

Chr12:32625748

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA235236266

rs_372890690

2 SubmittersRCV001092392 RCV001366887

NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr)

SNV
Germline

Chr14:101994704

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391032856

rs_2048038458

2 SubmittersRCV001091156 RCV001330579

NM_022489.4(INF2):c.2846C>T (p.Ala949Val)

SNV
Germline

Chr14:104713277

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA391222772

rs_912951002

3 SubmittersRCV001092394 RCV002497496

NM_001136472.2(LITAF):c.378-7C>T

SNV
Germline

Chr16:11549752

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 1C

Criteria Provided
Conflicting Classifications

CA278302215

rs_969563231

2 SubmittersRCV001092815 RCV002555962

NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)

SNV
Germline

Chr17:42543360

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399602009

rs_1183634153

3 SubmittersRCV001090845 RCV001377261

NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)

SNV
Germline

Chr14:101994686

Conflicting classifications of pathogenicity

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391032769

rs_2048038246

2 SubmittersRCV001095665 RCV001253563 RCV001856290

NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)

SNV
Germline

Chr1:10256299

Conflicting classifications of pathogenicity

Neuroblastoma
not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA580625

rs_752674254

3 SubmittersRCV001097597 RCV004032027 RCV006465359

NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)

SNV
Germline

Chr1:10276361

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA580861

rs_141637645

5 SubmittersRCV001097982 RCV002067747 RCV004032034 RCV005232124

NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)

SNV
Germline

Chr1:10282475

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580951

rs_375389310

3 SubmittersRCV001099951 RCV002554949 RCV004032055

NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)

SNV
Germline

Chr1:10337085

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581725

rs_754121148

3 SubmittersRCV001100481 RCV001422392 RCV004032065

NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)

SNV
Germline

Chr1:10347812

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA581896

rs_746980680

4 SubmittersRCV001102440 RCV002069711 RCV003425921 RCV004032087

NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)

SNV
Germline

Chr1:10361803

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA582026

rs_754234374

4 SubmittersRCV001098767 RCV001856337 RCV004032043 RCV005047305

NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)

SNV
Germline

Chr1:10365440

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA582121

rs_375130478

3 SubmittersRCV001098769 RCV001345974 RCV004032044

NM_014874.4(MFN2):c.205G>A (p.Val69Ile)

SNV
Germline

Chr1:11992584

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA598775

rs_28940296

3 SubmittersRCV001096145 RCV001096146 RCV002418579

NM_014874.4(MFN2):c.1938C>A (p.Val646=)

SNV
Germline

Chr1:12007118

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy with optic atrophy

Criteria Provided
Conflicting Classifications

CA18013563

rs_1040702840

2 SubmittersRCV001099780 RCV001099781

NM_005572.3(LMNA):c.-223C>T

SNV
Germline

Chr1:156114696

Conflicting classifications of pathogenicity

Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA30998964

rs_188625872

2 SubmittersRCV001099599 RCV001097799 RCV001097800 RCV001099593 RCV001099598 RCV001099600 RCV001099594 RCV001099595 RCV001099596 RCV001099597 RCV001564412

NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)

SNV
Germline

Chr1:156136394

Conflicting classifications of pathogenicity

Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Familial partial lipodystrophy, Dunnigan type
Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049944

rs_505058

4 SubmittersRCV001100501 RCV001100503 RCV001100502 RCV001100505 RCV001100506 RCV001100504 RCV001102452 RCV001102453 RCV001102451 RCV001102450 RCV001186448 RCV005093479 RCV004807306

NM_000530.8(MPZ):c.*360C>G

SNV
Germline

Chr1:161305516

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease dominant intermediate D
Neuropathy, congenital hypomyelinating, 2
Roussy-Lévy syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA31667444

rs_6682046

2 SubmittersRCV001101179 RCV001101181 RCV001101178 RCV001101180 RCV001847156

NM_003680.4(YARS1):c.579C>T (p.Thr193=)

SNV
Germline

Chr1:32797775

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C

Criteria Provided
Conflicting Classifications

CA417066586

rs_1344194115

2 SubmittersRCV001096318

NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=)

SNV
Germline

Chr1:6468259

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Conflicting Classifications

CA561129

rs_758214289

2 SubmittersRCV001101745 RCV001475029

NM_001365951.3(KIF1B):c.883-15C>T

SNV
Germline

Chr1:10275413

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA1139655940

rs_1397719362

2 SubmittersRCV001097981 RCV003744730

NM_014874.4(MFN2):c.1716+8A>G

SNV
Germline

Chr1:12005939

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy with optic atrophy

Criteria Provided
Conflicting Classifications

CA1139655974

rs_1639390139

2 SubmittersRCV001097994 RCV001097995

NM_014874.4(MFN2):c.2204+13C>T

SNV
Germline

Chr1:12009739

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy with optic atrophy

Criteria Provided
Conflicting Classifications

CA599361

rs_200441797

2 SubmittersRCV001096346 RCV001096347

NM_020631.6(PLEKHG5):c.440-11C>T

SNV
Germline

Chr1:6474175

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
not specified

Criteria Provided
Conflicting Classifications

CA561846

rs_747418024

3 SubmittersRCV001099942 RCV002069682 RCV003490073

NM_030962.4(SBF2):c.810G>A (p.Thr270=)

SNV
Germline

Chr11:10000965

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5882003

rs_769963369

2 SubmittersRCV001106051 RCV001418741

NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)

SNV
Germline

Chr11:62690646

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA6053295

rs_766492897

3 SubmittersRCV001106919 RCV001106920 RCV002069757 RCV004998650

NM_030962.4(SBF2):c.1296+13T>C

SNV
Germline

Chr11:9992402

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5881873

rs_376685939

2 SubmittersRCV001106050 RCV002069747

NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=)

SNV
Germline

Chr11:68908191

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA475186229

rs_1281690554

2 SubmittersRCV001111835 RCV003769126

NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=)

SNV
Germline

Chr11:68908239

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA475186416

rs_1858280736

2 SubmittersRCV001111837 RCV005225236

NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)

SNV
Germline

Chr11:68938237

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA6153979

rs_770556515

2 SubmittersRCV001112495 RCV001441798

NM_030962.4(SBF2):c.1413T>A (p.His471Gln)

SNV
Germline

Chr11:9968528

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5881824

rs_769911496

4 SubmittersRCV001114565 RCV001214765 RCV002393360 RCV006437011

NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)

SNV
Germline

Chr12:109784341

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Spondylometaphyseal dysplasia, Kozlowski type

Criteria Provided
Conflicting Classifications

CA6779927

rs_34071623

2 SubmittersRCV001113396 RCV001111391 RCV001113395 RCV001113397 RCV001113393 RCV001113394

NM_021625.5(TRPV4):c.812G>A (p.Arg271His)

SNV
Germline

Chr12:109800659

Conflicting classifications of pathogenicity

Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6780421

rs_387907219

4 SubmittersRCV001113948 RCV001112611 RCV001113949 RCV001113950 RCV001113951 RCV001113952 RCV002418583 RCV006455435

NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)

SNV
Germline

Chr12:109800729

Conflicting classifications of pathogenicity

Spondylometaphyseal dysplasia, Kozlowski type
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780435

rs_370289434

3 SubmittersRCV001110011 RCV001110013 RCV001110010 RCV001110012 RCV001110014 RCV001110015 RCV002379651

NM_021625.5(TRPV4):c.195A>G (p.Pro65=)

SNV
Germline

Chr12:109814602

Conflicting classifications of pathogenicity

Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Brachyrachia (short spine dysplasia)

Criteria Provided
Conflicting Classifications

CA481867622

rs_1891742510

2 SubmittersRCV001111031 RCV001110280 RCV001111030 RCV001111027 RCV001111028 RCV001111029

NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)

SNV
Germline

Chr12:119179475

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 2A
Charcot-Marie-Tooth disease axonal type 2L
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244334734

rs_1011669872

3 SubmittersRCV001109056 RCV001109057 RCV002264185 RCV003163255

NM_001370298.3(FGD4):c.*2487C>A

SNV
Germline

Chr12:32643020

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4H
Condition: not provided

Criteria Provided
Conflicting Classifications

CA235249796

rs_188600194

3 SubmittersRCV001111215 RCV002292606

NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)

SNV
Germline

Chr14:101964940

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA266962040

rs_1024563256

2 SubmittersRCV001112903 RCV001114260

NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)

SNV
Germline

Chr14:101979364

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351521

rs_2273439

5 SubmittersRCV001114261 RCV001114262 RCV001289418 RCV001553481 RCV002375026

NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)

SNV
Germline

Chr14:101979779

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA488182570

rs_1184080545

3 SubmittersRCV001110239 RCV001110240 RCV002355112

NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)

SNV
Germline

Chr14:101983143

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7351639

rs_17540728

3 SubmittersRCV001110241 RCV001110987 RCV006443728

NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)

SNV
Germline

Chr14:101983215

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7351647

rs_567247522

2 SubmittersRCV001110988 RCV001110989

NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)

SNV
Germline

Chr14:101986577

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351801

rs_149028205

3 SubmittersRCV001114351 RCV001114352 RCV002445388

NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)

SNV
Germline

Chr14:101986687

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA391024206

rs_1391196036

2 SubmittersRCV001110333 RCV001114354

NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)

SNV
Germline

Chr14:101994201

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7351934

rs_755543897

2 SubmittersRCV001113065 RCV001113066

NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)

SNV
Germline

Chr14:102005230

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA488184194

rs_2048183675

3 SubmittersRCV001114543 RCV001114544 RCV002348561

NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)

SNV
Germline

Chr14:102010075

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA267002628

rs_898083162

2 SubmittersRCV001111266 RCV001111267

NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)

SNV
Germline

Chr14:102015167

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7352738

rs_200885538

2 SubmittersRCV001113274 RCV001114645

NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)

SNV
Germline

Chr14:102016044

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA7352812

rs_375687099

4 SubmittersRCV001111364 RCV001113373 RCV001173178 RCV003906209

NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)

SNV
Germline

Chr14:102016972

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352890

rs_375547282

4 SubmittersRCV001114751 RCV001114752 RCV001562221

NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)

SNV
Germline

Chr14:102027708

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
not specified

Criteria Provided
Conflicting Classifications

CA7353169

rs_34338935

3 SubmittersRCV001113466 RCV001113467 RCV004800698

NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)

SNV
Germline

Chr14:102040630

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7353769

rs_777166781

2 SubmittersRCV001112121 RCV001115069

NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)

SNV
Germline

Chr14:102047961

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354156

rs_201971718

3 SubmittersRCV001115175 RCV001115174 RCV005562569

NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)

SNV
Germline

Chr14:102048647

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA266988094

rs_961375016

2 SubmittersRCV001109551 RCV001111828

NM_022489.4(INF2):c.2415G>A (p.Leu805=)

SNV
Germline

Chr14:104711183

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7372906

rs_779751728

2 SubmittersRCV001110589 RCV002555075

NM_022489.4(INF2):c.2701G>A (p.Ala901Thr)

SNV
Germline

Chr14:104712918

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373042

rs_775349897

2 SubmittersRCV001112574 RCV003769131

NM_030962.4(SBF2):c.5231+13A>G

SNV
Germline

Chr11:9785112

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA597901308

rs_1242027664

2 SubmittersRCV001114386 RCV003581772

NM_030962.4(SBF2):c.2610+11A>G

SNV
Germline

Chr11:9852665

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5881518

rs_375912268

2 SubmittersRCV001110447 RCV002069782

NM_030962.4(SBF2):c.1861-6T>C

SNV
Germline

Chr11:9896017

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA217645663

rs_77334447

2 SubmittersRCV001113197 RCV005093516

NM_001370298.3(FGD4):c.2172+12T>G

SNV
Germline

Chr12:32625791

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA604226261

rs_945554080

2 SubmittersRCV001114407 RCV002069843

NM_001376.5(DYNC1H1):c.2719-15T>C

SNV
Germline

Chr14:101988688

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351876

rs_748772899

2 SubmittersRCV001111076 RCV001111077

NM_001376.5(DYNC1H1):c.5049+15G>A

SNV
Germline

Chr14:102004698

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA266997442

rs_975753572

2 SubmittersRCV001111166 RCV001111167

NM_001376.5(DYNC1H1):c.8177+12C>T

SNV
Germline

Chr14:102017516

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA7352943

rs_367551573

2 SubmittersRCV001109124 RCV001114753

NM_022489.4(INF2):c.2775+13G>A

SNV
Germline

Chr14:104713005

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373066

rs_759589756

2 SubmittersRCV001112576 RCV002069814

NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)

SNV
Germline

Chr15:44563195

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7533836

rs_779900397

3 SubmittersRCV001117108 RCV002468153 RCV002468154

NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)

SNV
Germline

Chr15:44567452

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534035

rs_376245210

4 SubmittersRCV001120687 RCV002468175 RCV002468176 RCV006443742

NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)

SNV
Germline

Chr15:44584082

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA270079916

rs_570599267

3 SubmittersRCV001118824 RCV002468164 RCV002468163

NM_001605.3(AARS1):c.1059C>T (p.Val353=)

SNV
Germline

Chr16:70268283

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA283438494

rs_1054385792

2 SubmittersRCV001119958 RCV002556565

NM_001605.3(AARS1):c.828C>G (p.Ala276=)

SNV
Germline

Chr16:70269752

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA283440147

rs_914414911

2 SubmittersRCV001121948 RCV003744731

NM_001605.3(AARS1):c.501C>T (p.Leu167=)

SNV
Germline

Chr16:70271951

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA496210877

rs_1567608510

2 SubmittersRCV001115373 RCV003769147

NM_000263.4(NAGLU):c.750C>T (p.Pro250=)

SNV
Germline

Chr17:42538741

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA8576843

rs_539019626

2 SubmittersRCV001123007 RCV001451145

NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)

SNV
Germline

Chr17:42543629

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8577062

rs_146438251

4 SubmittersRCV001126734 RCV001450753 RCV003898127 RCV004546605

NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)

SNV
Germline

Chr17:42543883

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA8577110

rs_376545731

3 SubmittersRCV001127134 RCV002556778

NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)

SNV
Germline

Chr17:42543920

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
NAGLU-related disorder

Criteria Provided
Conflicting Classifications

CA8577120

rs_369789056

3 SubmittersRCV001127135 RCV001434962 RCV003918717

NM_001005361.3(DNM2):c.1196+710G>A

SNV
Germline

Chr19:10796149

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201040

rs_140208362

4 SubmittersRCV001125009 RCV001125010 RCV002285446 RCV002379654

NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)

SNV
Germline

Chr19:10798522

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA305283326

rs_745748213

2 SubmittersRCV001125993 RCV001125994

NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)

SNV
Germline

Chr19:10798550

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Autosomal dominant centronuclear myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201137

rs_776126973

4 SubmittersRCV001125996 RCV001128093 RCV001585994

NM_181882.3(PRX):c.2850G>C (p.Gly950=)

SNV
Germline

Chr19:40395502

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9443966

rs_770520776

2 SubmittersRCV001131683 RCV003769249

NM_181882.3(PRX):c.2509C>T (p.Leu837=)

SNV
Germline

Chr19:40395843

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA507679065

rs_1177784082

2 SubmittersRCV001136101 RCV001437118

NM_181882.3(PRX):c.2283G>A (p.Pro761=)

SNV
Germline

Chr19:40396069

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA507679504

rs_1340076007

2 SubmittersRCV001129126 RCV002070505

NM_181882.3(PRX):c.1818G>A (p.Pro606=)

SNV
Germline

Chr19:40396534

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444189

rs_768022787

4 SubmittersRCV001132793 RCV001173780 RCV001391962 RCV004960484

NM_181882.3(PRX):c.943C>T (p.Arg315Trp)

SNV
Germline

Chr19:40397409

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444355

rs_763185527

3 SubmittersRCV001129241 RCV001856685 RCV002375031

NM_181882.3(PRX):c.825C>T (p.Leu275=)

SNV
Germline

Chr19:40397527

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444377

rs_753268672

3 SubmittersRCV001131932 RCV001417387 RCV003425944

NM_000214.3(JAG1):c.3385C>A (p.His1129Asn)

SNV
Germline

Chr20:10639770

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764215

rs_768642155

3 SubmittersRCV001142857 RCV001201469 RCV005029713

NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)

SNV
Germline

Chr20:10673457

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
not specified
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408244062

rs_1265642949

5 SubmittersRCV001138324 RCV001318229 RCV003987786 RCV005029705 RCV006347429

NM_024577.4(SH3TC2):c.*21149A>G

SNV
Germline

Chr5:148983562

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128984606

rs_552963495

1 SubmittersRCV001157804 RCV001157803

NM_024577.4(SH3TC2):c.*20882A>G

SNV
Germline

Chr5:148983829

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128984720

rs_112269889

1 SubmittersRCV001152332 RCV001152333

NM_024577.4(SH3TC2):c.*20787G>A

SNV
Germline

Chr5:148983924

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128984781

rs_76578570

1 SubmittersRCV001153614 RCV001153615

NM_024577.4(SH3TC2):c.*15639A>G

SNV
Germline

Chr5:148989072

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128986896

rs_190478262

1 SubmittersRCV001155078 RCV001155079

NM_024577.4(SH3TC2):c.*11927T>C

SNV
Germline

Chr5:148992784

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128988280

rs_75711075

1 SubmittersRCV001154662 RCV001154661

NM_024577.4(SH3TC2):c.*11589C>T

SNV
Germline

Chr5:148993122

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128988414

rs_189059447

1 SubmittersRCV001155498 RCV001155499

NM_024577.4(SH3TC2):c.*11357G>A

SNV
Germline

Chr5:148993354

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128988532

rs_147502432

1 SubmittersRCV001151720 RCV001151721

NM_024577.4(SH3TC2):c.*9872T>C

SNV
Germline

Chr5:148994839

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128989222

rs_545698794

1 SubmittersRCV001152018 RCV001152019

NM_024577.4(SH3TC2):c.*7917A>G

SNV
Germline

Chr5:148996794

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128990064

rs_546816780

1 SubmittersRCV001156121 RCV001156120

NM_024577.4(SH3TC2):c.*5277G>T

SNV
Germline

Chr5:148999434

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128991355

rs_529868327

1 SubmittersRCV001153918 RCV001153917

NM_024577.4(SH3TC2):c.*3035C>A

SNV
Germline

Chr5:149001676

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128992682

rs_183531576

1 SubmittersRCV001155085 RCV001155084

NM_024577.4(SH3TC2):c.*3034A>C

SNV
Germline

Chr5:149001677

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128992683

rs_547028114

1 SubmittersRCV001155087 RCV001155086

NM_024577.4(SH3TC2):c.*1720T>A

SNV
Germline

Chr5:149002991

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128993554

rs_148473467

1 SubmittersRCV001155285 RCV001155284

NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)

SNV
Germline

Chr5:149027935

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA128985027

rs_200332172

2 SubmittersRCV001153177 RCV001153178 RCV001417182

NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)

SNV
Germline

Chr5:149028225

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3499163

rs_78346510

3 SubmittersRCV001155781 RCV001155782 RCV002393371 RCV002070916

NM_014845.6(FIG4):c.1482C>T (p.Asn494=)

SNV
Germline

Chr6:109765060

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3956106

rs_776928002

2 SubmittersRCV001152790 RCV001152791 RCV001465252

NM_024577.4(SH3TC2):c.3676-13A>G

SNV
Germline

Chr5:149004915

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA1139659191

rs_1753660598

2 SubmittersRCV001157183 RCV001157182 RCV002557340

NM_002047.2(GARS1):c.-85C>A

SNV
Germline

Chr7:30594837

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2D
Condition: not provided
Distal spinal muscular atrophy

Criteria Provided
Conflicting Classifications

CA156095950

rs_777045330

2 SubmittersRCV001162262 RCV001162263 RCV001545432 RCV001162261

NM_002047.4(GARS1):c.1188T>C (p.Val396=)

SNV
Germline

Chr7:30616052

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D
Distal spinal muscular atrophy
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205913

rs_779184435

2 SubmittersRCV001164602 RCV001164601 RCV001164603 RCV005093683

NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)

SNV
Germline

Chr7:30617172

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2D
Neuronopathy, distal hereditary motor, type 5A
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205939

rs_746139865

2 SubmittersRCV001159689 RCV001159690 RCV001164607 RCV001241138

NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)

SNV
Germline

Chr8:133239022

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA463217108

rs_1467447359

2 SubmittersRCV001162008 RCV003581774

NM_006096.4(NDRG1):c.951G>A (p.Ser317=)

SNV
Germline

Chr8:133239112

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA463217393

rs_1310471207

3 SubmittersRCV001164015 RCV001295233

NM_006096.4(NDRG1):c.270C>T (p.Ala90=)

SNV
Germline

Chr8:133262103

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA4886838

rs_200328537

3 SubmittersRCV001162093 RCV001278102

NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)

SNV
Germline

Chr8:24953557

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4681281

rs_758305388

3 SubmittersRCV001164444 RCV001882527 RCV002393376

NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)

SNV
Germline

Chr8:24953650

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4681295

rs_199775873

3 SubmittersRCV001159512 RCV001207087 RCV002379661

NM_006158.5(NEFL):c.564C>G (p.Ala188=)

SNV
Germline

Chr8:24955952

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA460183409

rs_1457926450

2 SubmittersRCV001160883 RCV001423733

NM_006158.5(NEFL):c.339G>C (p.Gln113His)

SNV
Germline

Chr8:24956177

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4681515

rs_750251152

3 SubmittersRCV001160887 RCV001172732 RCV002451344

NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)

SNV
Germline

Chr8:24956178

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4681516

rs_758191113

3 SubmittersRCV001162497 RCV001172733 RCV001267223

NM_018972.4(GDAP1):c.471T>G (p.Thr157=)

SNV
Germline

Chr8:74360297

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Conflicting Classifications

CA179735052

rs_886293648

2 SubmittersRCV001159851 RCV001159852 RCV001441160

NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn)

SNV
Germline

Chr9:127473887

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246655

rs_551957380

3 SubmittersRCV001166292 RCV002365814

NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp)

SNV
Germline

Chr9:127483002

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5246851

rs_763390117

3 SubmittersRCV001168523 RCV002451347

NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)

SNV
Germline

Chr9:127502842

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA467237570

rs_1410005477

2 SubmittersRCV001166865

NM_000166.6(GJB1):c.-102G>A

SNV
Germline

ChrX:71223250

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA330997549

rs_753207004

3 SubmittersRCV001167300 RCV005416476

NM_001005373.4(LRSAM1):c.1159+13A>T

SNV
Germline

Chr9:127483033

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA5246857

rs_756667241

2 SubmittersRCV001168524

NM_001005373.4(LRSAM1):c.1422+15T>A

SNV
Germline

Chr9:127489533

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA5246980

rs_372509526

2 SubmittersRCV001169277

NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)

SNV
Germline

Chr1:156134521

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A

Criteria Provided
Conflicting Classifications

CA31011025

rs_987157491

7 SubmittersRCV001170452 RCV001175610 RCV001301048 RCV002355132 RCV003132248 RCV004000271 RCV004587059

NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)

SNV
Germline

Chr1:10256323

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580629

rs_756935623

3 SubmittersRCV001173596 RCV003744736 RCV004032963

NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)

SNV
Germline

Chr1:10267556

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA415879493

rs_766873320

3 SubmittersRCV001172598 RCV004629474 RCV005093727

NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)

SNV
Germline

Chr1:10361819

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA582029

rs_552529704

3 SubmittersRCV001173587 RCV002067855 RCV004032960

NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)

SNV
Germline

Chr1:10368524

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA582181

rs_769092155

4 SubmittersRCV001173594 RCV001211459 RCV001507423 RCV004032961

NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)

SNV
Germline

Chr1:10371160

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA582208

rs_376471111

3 SubmittersRCV001173598 RCV001338977 RCV004032964

NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)

SNV
Germline

Chr1:11998862

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA338438517

rs_1569842714

2 SubmittersRCV001174314 RCV001377596

NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)

SNV
Germline

Chr1:161306364

Likely pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA343345552

rs_1670244293

1 SubmittersRCV001173696

NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)

SNV
Germline

Chr1:161307284

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA343350445

rs_1571819890

3 SubmittersRCV001174324 RCV005409780 RCV006557087

NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)

SNV
Germline

Chr2:219282928

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, autosomal recessive 5

Criteria Provided
Conflicting Classifications

CA2122972

rs_200554674

2 SubmittersRCV001173843 RCV001873621

NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)

SNV
Germline

Chr5:149006906

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3498661

rs_758669363

3 SubmittersRCV001174026 RCV001526838 RCV001873630

NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)

SNV
Germline

Chr5:149010301

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498788

rs_748413646

3 SubmittersRCV001173818 RCV001873620 RCV002451353

NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)

SNV
Germline

Chr5:149027637

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361667093

rs_1754094644

2 SubmittersRCV001172826 RCV005409778

NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)

SNV
Germline

Chr5:149028149

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3499154

rs_537134516

4 SubmittersRCV001172832 RCV001586019 RCV001732060 RCV003744733

NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)

SNV
Germline

Chr5:149028691

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499270

rs_146364285

3 SubmittersRCV001174039 RCV001223951 RCV006279407

NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)

SNV
Germline

Chr5:149047912

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
SH3TC2-related disorder
not specified
Condition: not provided
Gastric cancer

Criteria Provided
Conflicting Classifications

CA3499593

rs_185149793

7 SubmittersRCV001174035 RCV001410759 RCV004538394 RCV006455490 RCV004720076 RCV005908896

NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser)

SNV
Germline

Chr5:149047949

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3499599

rs_571440448

2 SubmittersRCV001174033 RCV006465541

NM_014845.6(FIG4):c.744G>A (p.Leu248=)

SNV
Germline

Chr6:109738422

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA451753664

rs_76125290

2 SubmittersRCV001173279 RCV001664727

NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)

SNV
Germline

Chr7:76302865

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4306272

rs_769118115

4 SubmittersRCV001174174 RCV001873634 RCV003132251 RCV005908898

NM_006158.5(NEFL):c.*2C>A

SNV
Germline

Chr8:24952808

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4681216

rs_754312148

2 SubmittersRCV001172738 RCV002225803

NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)

SNV
Germline

Chr8:24955975

Likely pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA370622168

rs_774653437

1 SubmittersRCV001172729

NM_006158.5(NEFL):c.86T>C (p.Val29Ala)

SNV
Germline

Chr8:24956430

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2E
NEFL-related disorder

Criteria Provided
Conflicting Classifications

CA4681554

rs_372748927

4 SubmittersRCV001173056 RCV002445409 RCV002558747 RCV003898167

NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)

SNV
Germline

Chr11:68936287

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA381651583

rs_1465803265

4 SubmittersRCV001173337 RCV003227920 RCV004032949 RCV004702661

NM_002180.3(IGHMBP2):c.*18C>T

SNV
Germline

Chr11:68939749

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA6154083

rs_370227350

2 SubmittersRCV001174196 RCV005908899

NM_030962.4(SBF2):c.5043A>G (p.Gln1681=)

SNV
Germline

Chr11:9785313

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
not specified
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA5880803

rs_779654145

3 SubmittersRCV001173975 RCV001819877 RCV005093739

NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)

SNV
Germline

Chr12:109792408

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA6780078

rs_545966662

3 SubmittersRCV001172889 RCV002411666 RCV002559655

NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)

SNV
Germline

Chr12:109798727

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA386654411

rs_1006063188

3 SubmittersRCV001173251 RCV001373039 RCV002225804

NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)

SNV
Germline

Chr12:57498520

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA6650378

rs_745584505

3 SubmittersRCV001173438 RCV002558753 RCV004032956

NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)

SNV
Germline

Chr14:101979902

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351564

rs_769311346

2 SubmittersRCV001173854 RCV002557494

NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)

SNV
Germline

Chr14:102000028

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391038209

rs_1567005557

2 SubmittersRCV001173855 RCV003642949

NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)

SNV
Germline

Chr14:102040348

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353727

rs_770188348

2 SubmittersRCV001173999 RCV003642950

NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)

SNV
Germline

Chr14:102042263

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
DYNC1H1-related disorder
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266978980

rs_992393537

4 SubmittersRCV001174000 RCV003908428 RCV005093741 RCV005328548

NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)

SNV
Germline

Chr17:15239535

Likely pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA398267979

rs_755701957

1 SubmittersRCV001173914

NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)

SNV
Germline

Chr17:15259102

Likely pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA398270684

rs_1909079392

1 SubmittersRCV001173913

NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)

SNV
Germline

Chr19:40394349

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9443725

rs_559968504

2 SubmittersRCV001172757 RCV001241428

NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)

SNV
Germline

Chr19:40396862

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4
not specified

Criteria Provided
Conflicting Classifications

CA405898287

rs_1167411868

4 SubmittersRCV001173075 RCV001509036 RCV002557484 RCV005437013

NM_181882.3(PRX):c.2T>C (p.Met1Thr)

SNV
Germline

Chr19:40407931

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA405902081

rs_1352237419

2 SubmittersRCV001172761 RCV003744732

NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)

SNV
Germline

ChrX:71223779

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA413500761

rs_1602348658

2 SubmittersRCV001173557 RCV002559664

NM_000166.6(GJB1):c.109G>C (p.Val37Leu)

SNV
Germline

ChrX:71223816

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413500957

rs_1057518946

2 SubmittersRCV001173558 RCV006257328

NM_000166.6(GJB1):c.573C>T (p.Thr191=)

SNV
Germline

ChrX:71224280

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Conflicting Classifications

CA10445318

rs_776040132

2 SubmittersRCV001173559 RCV001485087

NM_000530.8(MPZ):c.448+2T>G

SNV
Germline

Chr1:161306706

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343348052

rs_1670257221

2 SubmittersRCV001173699 RCV003581779

NM_014845.6(FIG4):c.498-13A>G

SNV
Germline

Chr6:109735137

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3955819

rs_199891240

3 SubmittersRCV001172952 RCV001873604 RCV006256281

NM_014845.6(FIG4):c.1949-10T>G

SNV
Germline

Chr6:109786292

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
See cases
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA145177565

rs_896444437

4 SubmittersRCV001172959 RCV002287478 RCV001873605 RCV003883567

NM_006096.4(NDRG1):c.100-3C>T

SNV
Germline

Chr8:133264655

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D

Criteria Provided
Conflicting Classifications

CA4886884

rs_775475505

3 SubmittersRCV001173722 RCV001240869 RCV001833729

NM_001005373.4(LRSAM1):c.253-9C>A

SNV
Germline

Chr9:127458994

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA199851875

rs_199925705

2 SubmittersRCV001174256 RCV005093743

NM_001005373.4(LRSAM1):c.750+2T>G

SNV
Germline

Chr9:127473933

Likely pathogenic

Charcot-Marie-Tooth disease
Familial pancreatic carcinoma
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA5246667

rs_76153575

2 SubmittersRCV001173628 RCV005908894 RCV005908895 RCV005908893

NM_001005373.4(LRSAM1):c.904-2A>G

SNV
Germline

Chr9:127479837

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Multiple Submitters
No Conflicts

CA374931354

rs_1171946884

2 SubmittersRCV001173633 RCV002558757

NM_002180.3(IGHMBP2):c.1061-1G>C

SNV
Germline

Chr11:68929182

Likely pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA381647369

rs_1859177429

1 SubmittersRCV001173327

NM_030962.4(SBF2):c.1395+1G>A

SNV
Germline

Chr11:9989496

Likely pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Single Submitter

CA379636073

rs_1947335024

2 SubmittersRCV001172789 RCV006443770

NM_001370298.3(FGD4):c.1102-5T>A

SNV
Germline

Chr12:32601273

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA479166628

rs_1459339879

4 SubmittersRCV001173487 RCV001664728 RCV002068085 RCV002375052

NM_000304.4(PMP22):c.179-13C>G

SNV
Germline

Chr17:15239624

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA8403388

rs_756820859

2 SubmittersRCV001173920 RCV002558759

NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)

SNV
Germline

Chr1:156135970

Conflicting classifications of pathogenicity

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
11 conditions
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342820181

rs_1237093879

6 SubmittersRCV001183937 RCV001876124 RCV002484004 RCV003314669 RCV004008421 RCV004994286

NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu)

SNV
Germline

Chr1:156137204

Conflicting classifications of pathogenicity

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342823487

rs_57520892

3 SubmittersRCV001178403 RCV001875896 RCV004807330

NM_170707.4(LMNA):c.1699-7T>C

SNV
Germline

Chr1:156138481

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA051132

rs_771074100

6 SubmittersRCV001180930 RCV001262512 RCV001469235 RCV002264213 RCV004006700

NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser)

SNV
Germline

Chr1:156136087

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342820537

rs_879254162

3 SubmittersRCV001193914 RCV003480983 RCV005094031

NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)

SNV
Germline

Chr7:30612216

Conflicting classifications of pathogenicity

See cases
Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5A
GARS1-related disorder

Criteria Provided
Conflicting Classifications

CA367125520

rs_1303447354

4 SubmittersRCV001198686 RCV002240825 RCV002249786 RCV005866846

NM_001005373.4(LRSAM1):c.1102C>T (p.Gln368Ter)

SNV
Unknown

Chr9:127482963

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374932003

rs_776814240

1 SubmittersRCV001198443

NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn)

SNV
Unknown

Chr12:109792705

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386652253

rs_1890124015

1 SubmittersRCV001197313

NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly)

SNV
Germline

Chr14:102034391

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391028238

rs_2048546542

2 SubmittersRCV001197685

NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)

SNV
Germline

Chr14:102042101

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA266978711

rs_750249796

4 SubmittersRCV001198310 RCV001580122

NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)

SNV
Germline

Chr19:10825111

Likely pathogenic

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Centronuclear myopathy

Reviewed By Expert Panel

CA404041406

rs_2073098775

4 SubmittersRCV001197418 RCV001227100 RCV004732493

NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)

SNV
Unknown

Chr19:40396791

Likely pathogenic

Charcot-Marie-Tooth disease type 4F

Criteria Provided
Single Submitter

CA405898142

rs_200483634

1 SubmittersRCV001196692

NM_014845.6(FIG4):c.1751-16A>G

SNV
Germline

Chr6:109776906

Conflicting classifications of pathogenicity

Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3956174

rs_200778905

3 SubmittersRCV001196586 RCV002069281 RCV006450900

NM_001005373.4(LRSAM1):c.175-2A>T

SNV
Germline

Chr9:127457314

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA199851673

rs_1035054313

2 SubmittersRCV001197856

NM_001376.5(DYNC1H1):c.2538+8C>G

SNV
Germline

Chr14:101986771

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351830

rs_755060365

2 SubmittersRCV001196025

NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)

SNV
Germline

Chr20:10639649

Conflicting classifications of pathogenicity

Aortic dilatation
Scoliosis
Pes planus
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA408242700

rs_1268561604

4 SubmittersRCV001200019 RCV002484072 RCV003284036 RCV003770226

NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr1:156134439

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342816797

rs_1651341099

2 SubmittersRCV001200924 RCV003117843

NM_014874.4(MFN2):c.919A>G (p.Lys307Glu)

SNV
Germline

Chr1:12001503

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA338441865

rs_1639171700

2 SubmittersRCV001201342 RCV001876288

NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)

SNV
Germline

Chr1:10232387

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA580596

rs_538135467

3 SubmittersRCV001218795 RCV004032339 RCV004691389

NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr)

SNV
Germline

Chr1:10361818

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA582028

rs_757899517

3 SubmittersRCV001217970 RCV004034052 RCV005049796

NM_170707.4(LMNA):c.92A>G (p.Glu31Gly)

SNV
Germline

Chr1:156115010

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807411

rs_1649709575

1 SubmittersRCV001214508

NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys)

SNV
Germline

Chr1:156136111

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA342820637

rs_1651580090

3 SubmittersRCV001220492 RCV003129737 RCV003313994

NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)

SNV
Germline

Chr1:161306853

Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA343349500

rs_1558154149

2 SubmittersRCV001215918 RCV003224529

NM_024577.4(SH3TC2):c.3538C>A (p.His1180Asn)

SNV
Germline

Chr5:149007018

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3498685

rs_201876002

3 SubmittersRCV001216977 RCV002451485 RCV005416488

NM_024577.4(SH3TC2):c.1943G>A (p.Arg648Gln)

SNV
Germline

Chr5:149027789

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499087

rs_149077357

2 SubmittersRCV001223768 RCV002563648

NM_002047.4(GARS1):c.123C>A (p.Cys41Ter)

SNV
Germline

Chr7:30595044

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA156096404

rs_988893052

2 SubmittersRCV001222358 RCV006545996

NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp)

SNV
Germline

Chr7:76302962

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4306296

rs_770272088

2 SubmittersRCV001220029 RCV004584867

NM_001540.5(HSPB1):c.544C>G (p.Pro182Ala)

SNV
Germline

Chr7:76304099

Pathogenic

Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA367766359

rs_104894020

2 SubmittersRCV001217374

NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro)

SNV
Germline

Chr11:62691281

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17

Criteria Provided
Conflicting Classifications

CA6053388

rs_779199750

3 SubmittersRCV001224191 RCV002418777 RCV005050293

NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)

SNV
Germline

Chr11:68936620

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153845

rs_146266992

4 SubmittersRCV001222997 RCV001586067 RCV002429946

NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter)

SNV
Germline

Chr11:95862030

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA382429416

rs_1864438088

1 SubmittersRCV001214772

NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)

SNV
Germline

Chr12:109814571

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA6780589

rs_777647151

3 SubmittersRCV001214255 RCV001587231 RCV005622077

NM_001376.5(DYNC1H1):c.2768C>T (p.Thr923Met)

SNV
Germline

Chr14:101988752

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351882

rs_760518511

2 SubmittersRCV001223952 RCV002436871

NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)

SNV
Germline

Chr14:102049850

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13
not specified

Criteria Provided
Conflicting Classifications

CA391050717

rs_1181756021

4 SubmittersRCV001224809 RCV002379853 RCV005359965 RCV006269340

NM_022489.4(INF2):c.1588G>A (p.Val530Met)

SNV
Germline

Chr14:104707855

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372599

rs_369984449

3 SubmittersRCV001220149 RCV002402659

NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)

SNV
Germline

Chr14:104711669

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA267328527

rs_759989953

5 SubmittersRCV001219752 RCV001812257 RCV002272416

NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)

SNV
Germline

Chr14:104714681

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373289

rs_767075044

3 SubmittersRCV001222136 RCV003346385

NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)

SNV
Germline

Chr15:44663617

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535973

rs_529316227

3 SubmittersRCV001218744 RCV002298906 RCV002468190 RCV002468191

NM_001136472.2(LITAF):c.157G>A (p.Gly53Arg)

SNV
Germline

Chr16:11556574

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7904169

rs_755155866

2 SubmittersRCV001215348 RCV002402643

NM_001136472.2(LITAF):c.55G>A (p.Ala19Thr)

SNV
Germline

Chr16:11556676

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7904191

rs_753060675

2 SubmittersRCV001214494 RCV002348709

NM_001136472.2(LITAF):c.26C>T (p.Ala9Val)

SNV
Germline

Chr16:11556705

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 1C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7904199

rs_529766640

3 SubmittersRCV001216366 RCV002451480 RCV003883580

NM_001605.3(AARS1):c.2681A>G (p.Asn894Ser)

SNV
Germline

Chr16:70253308

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140310

rs_775024070

2 SubmittersRCV001216026 RCV002462835

NM_001605.3(AARS1):c.736C>T (p.Arg246Ter)

SNV
Germline

Chr16:70270276

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8141058

rs_756337758

4 SubmittersRCV001216699 RCV001587235

NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)

SNV
Germline

Chr20:10650276

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764954

rs_144204614

3 SubmittersRCV001217867 RCV002491678 RCV005348363

NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)

SNV
Germline

Chr22:30932615

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10186593

rs_150496681

3 SubmittersRCV001223760 RCV002429950 RCV005437029

NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser)

SNV
Germline

Chr1:10261933

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA580688

rs_776533873

4 SubmittersRCV001213472 RCV003425995 RCV004033891 RCV005029774

NM_014874.4(MFN2):c.2177C>G (p.Ser726Ter)

SNV
Germline

Chr1:12009699

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338453325

rs_1317009723

1 SubmittersRCV001202315

NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp)

SNV
Germline

Chr1:12011523

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338454360

rs_756693072

1 SubmittersRCV001211210

NM_170707.4(LMNA):c.115A>C (p.Asn39His)

SNV
Germline

Chr1:156115033

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807660

rs_267607627

1 SubmittersRCV001204509

NM_170707.4(LMNA):c.163G>T (p.Glu55Ter)

SNV
Germline

Chr1:156115081

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808052

rs_1649719689

1 SubmittersRCV001211199

NM_170707.4(LMNA):c.217G>T (p.Glu73Ter)

SNV
Germline

Chr1:156115135

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342808287

rs_1649727816

2 SubmittersRCV001212067 RCV001780125

NM_170707.4(LMNA):c.590T>C (p.Leu197Pro)

SNV
Germline

Chr1:156134479

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342816986

rs_1651348222

1 SubmittersRCV001208397

NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp)

SNV
Germline

Chr1:156136113

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820650

rs_267607603

1 SubmittersRCV001210900

NM_170707.4(LMNA):c.1558T>A (p.Trp520Arg)

SNV
Germline

Chr1:156137182

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823345

rs_267607557

1 SubmittersRCV001213240

NM_000530.8(MPZ):c.20C>G (p.Ser7Ter)

SNV
Germline

Chr1:161309886

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343353207

rs_1558155838

1 SubmittersRCV001210626

NM_024577.4(SH3TC2):c.896G>C (p.Gly299Ala)

SNV
Germline

Chr5:149038400

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified

Criteria Provided
Conflicting Classifications

CA361672801

rs_1222332332

2 SubmittersRCV001211555 RCV004699199

NM_024577.4(SH3TC2):c.182G>A (p.Arg61His)

SNV
Germline

Chr5:149047959

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499601

rs_376389928

2 SubmittersRCV001210385 RCV004963201

NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr7:76302715

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA367762603

rs_1173242313

2 SubmittersRCV001202462 RCV002356874

NM_000399.5(EGR2):c.791C>T (p.Pro264Leu)

SNV
Germline

Chr10:62813847

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA377028811

rs_1842187600

2 SubmittersRCV001208685 RCV006545957

NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)

SNV
Germline

Chr11:68937088

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153947

rs_374632016

2 SubmittersRCV001210517 RCV002561736

NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)

SNV
Germline

Chr11:95835412

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6239848

rs_138746296

2 SubmittersRCV001203118 RCV003163531

NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)

SNV
Germline

Chr11:95838096

Pathogenic

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA382416267

rs_1863365049

2 SubmittersRCV001203117 RCV003163530

NM_030962.4(SBF2):c.1345G>C (p.Val449Leu)

SNV
Germline

Chr11:9989547

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379636337

rs_1441833591

2 SubmittersRCV001202483 RCV004960523

NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser)

SNV
Germline

Chr12:109798658

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780348

rs_146053143

3 SubmittersRCV001206724 RCV001562295 RCV002451441

NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)

SNV
Germline

Chr14:101986002

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391019326

rs_2047932647

1 SubmittersRCV001213489

NM_001376.5(DYNC1H1):c.8531G>A (p.Arg2844His)

SNV
Germline

Chr14:102022774

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353051

rs_150520534

3 SubmittersRCV001203853 RCV001310725

NM_001376.5(DYNC1H1):c.13346G>A (p.Arg4449His)

SNV
Germline

Chr14:102048643

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7354210

rs_777866900

2 SubmittersRCV001207869 RCV004726959

NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)

SNV
Germline

Chr14:104707849

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372596

rs_181694819

4 SubmittersRCV001204496 RCV003163547 RCV005235532

NM_022489.4(INF2):c.2180C>T (p.Ala727Val)

SNV
Germline

Chr14:104710129

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391220402

rs_1156240396

3 SubmittersRCV001209094 RCV004584865

NM_022489.4(INF2):c.3461A>T (p.Asp1154Val)

SNV
Germline

Chr14:104714623

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373261

rs_753263522

5 SubmittersRCV001207206 RCV002339530 RCV003222256

NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys)

SNV
Germline

Chr14:104714835

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373341

rs_779017318

2 SubmittersRCV001202750

NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)

SNV
Germline

Chr15:44570544

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534127

rs_543344637

2 SubmittersRCV001204169 RCV002491612

NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)

SNV
Germline

Chr19:10825153

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201473

rs_757366208

4 SubmittersRCV001205070 RCV004697070 RCV005540295

NM_181882.3(PRX):c.2804A>C (p.Lys935Thr)

SNV
Germline

Chr19:40395548

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA405895545

rs_1179595016

2 SubmittersRCV001210005 RCV003425992

NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr)

SNV
Germline

Chr20:10639632

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764196

rs_769685858

3 SubmittersRCV001207078 RCV004695167 RCV005036461

NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)

SNV
Germline

Chr20:10640917

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9764291

rs_376089631

3 SubmittersRCV001203477 RCV002484096 RCV004768910

NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)

SNV
Germline

Chr20:10646989

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764741

rs_750855317

4 SubmittersRCV001209633 RCV002411771 RCV002484135 RCV004548060

NM_000530.8(MPZ):c.235-1G>T

SNV
Germline

Chr1:161306922

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343350123

rs_1571819375

2 SubmittersRCV001532562 RCV001204567

NM_014845.6(FIG4):c.1890-2A>G

SNV
Germline

Chr6:109784968

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365231534

rs_1777909965

1 SubmittersRCV001205918

NM_014845.6(FIG4):c.2547-1G>A

SNV
Germline

Chr6:109825087

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3956449

rs_769858739

6 SubmittersRCV001207369 RCV001508194 RCV003363159 RCV003447318 RCV004743323

NM_018972.4(GDAP1):c.310+1G>A

SNV
Germline

Chr8:74351467

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371499666

rs_1808872865

1 SubmittersRCV001206055

NM_001365088.1(SLC12A6):c.316+1G>A

SNV
Germline

Chr15:34275344

Pathogenic/Likely pathogenic

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II
Usher syndrome type 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA391617038

rs_1462170681

6 SubmittersRCV001211340 RCV001330022 RCV005005078 RCV005861212

NM_001365951.3(KIF1B):c.3112A>G (p.Asn1038Asp)

SNV
Germline

Chr1:10336725

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA338339445

rs_1342716199

2 SubmittersRCV001237517 RCV004034554

NM_001365951.3(KIF1B):c.4171C>T (p.Leu1391=)

SNV
Germline

Chr1:10361692

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA17847645

rs_1035373795

2 SubmittersRCV001236286 RCV004033307

NM_001365951.3(KIF1B):c.5441C>T (p.Ser1814Leu)

SNV
Germline

Chr1:10376577

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA582358

rs_761319935

2 SubmittersRCV001231783 RCV004033135

NM_014874.4(MFN2):c.494A>C (p.His165Pro)

SNV
Germline

Chr1:11997316

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338436256

rs_863224970

1 SubmittersRCV001236164

NM_014874.4(MFN2):c.597C>G (p.Asp199Glu)

SNV
Germline

Chr1:11997419

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Conflicting Classifications

CA338437117

rs_1205882839

2 SubmittersRCV001229234 RCV005622082

NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter)

SNV
Germline

Chr1:12002060

Pathogenic

Charcot-Marie-Tooth disease type 2
Global developmental delay

Criteria Provided
Single Submitter

CA338443091

rs_1639200820

2 SubmittersRCV001236367 RCV001527614

NM_170707.4(LMNA):c.265C>G (p.Arg89Gly)

SNV
Germline

Chr1:156115183

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808520

rs_267607559

1 SubmittersRCV001232305

NM_170707.4(LMNA):c.934C>T (p.Gln312Ter)

SNV
Germline

Chr1:156135310

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342818090

rs_1651466808

1 SubmittersRCV001232733

NM_170707.4(LMNA):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr1:156136024

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820294

rs_1651564707

1 SubmittersRCV001237127

NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg)

SNV
Germline

Chr1:156136939

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822470

rs_267607639

1 SubmittersRCV001236829

NM_170707.4(LMNA):c.1444C>G (p.Arg482Gly)

SNV
Germline

Chr1:156136984

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342822665

rs_57920071

2 SubmittersRCV001238528 RCV006347577

NM_000530.8(MPZ):c.234G>A (p.Ser78=)

SNV
Germline

Chr1:161307258

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease
Inborn genetic diseases
Charcot-Marie-Tooth disease type 1B
not specified

Criteria Provided
Conflicting Classifications

CA1210210

rs_368149365

6 SubmittersRCV001231540 RCV001329968 RCV002447158 RCV003482910 RCV005236708

NM_021629.4(GNB4):c.709A>C (p.Asn237His)

SNV
Germline

Chr3:179405397

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2712428

rs_758131126

2 SubmittersRCV001229886 RCV002366029

NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro)

SNV
Germline

Chr5:149008896

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3498746

rs_141715248

5 SubmittersRCV001236841 RCV003482353 RCV004960608 RCV006269343

NM_014845.6(FIG4):c.1A>C (p.Met1Leu)

SNV
Germline

Chr6:109691436

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365206378

rs_1490935299

1 SubmittersRCV001232509

NM_002047.4(GARS1):c.1001T>C (p.Ile334Thr)

SNV
Germline

Chr7:30612215

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367125519

rs_1554338262

2 SubmittersRCV001231694 RCV004792832

NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)

SNV
Germline

Chr8:74351406

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371499527

rs_1808867656

1 SubmittersRCV001237827

NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)

SNV
Germline

Chr9:35061665

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Condition: not provided
Charcot-Marie-Tooth disease type 2Y

Criteria Provided
Conflicting Classifications

CA373283571

rs_1828723406

4 SubmittersRCV001237563 RCV001760253 RCV002471052

NM_000399.5(EGR2):c.1065C>G (p.Asp355Glu)

SNV
Germline

Chr10:62813573

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377027880

rs_1589080604

2 SubmittersRCV001236068 RCV006455548

NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala)

SNV
Germline

Chr11:62702488

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy

Criteria Provided
Conflicting Classifications

CA6053567

rs_137930278

4 SubmittersRCV001228343 RCV001310601 RCV002436884 RCV005050297

NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)

SNV
Germline

Chr14:102044457

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7354051

rs_748643448

3 SubmittersRCV001226667 RCV002286826

NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)

SNV
Germline

Chr14:104709667

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372823

rs_377281840

3 SubmittersRCV001237688 RCV004034561

NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys)

SNV
Germline

Chr16:70267710

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N

Criteria Provided
Conflicting Classifications

CA396563508

rs_147580372

2 SubmittersRCV001228542 RCV002468625

NM_001605.3(AARS1):c.80A>G (p.His27Arg)

SNV
Germline

Chr16:70282684

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8141231

rs_77753666

3 SubmittersRCV001234709 RCV003142199 RCV004033254

NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)

SNV
Germline

Chr19:10825070

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201449

rs_749994173

3 SubmittersRCV001230947 RCV001773523

NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)

SNV
Germline

Chr19:40398770

Pathogenic

Charcot-Marie-Tooth disease type 4
Gaucher disease
PRX-related disorder
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Multiple Submitters
No Conflicts

CA405901329

rs_752192677

3 SubmittersRCV001231331 RCV004526818 RCV004579570 RCV002305577

NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met)

SNV
Germline

Chr20:10639895

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764241

rs_763164530

3 SubmittersRCV001234479 RCV002322124 RCV005029807

NM_001365951.3(KIF1B):c.2459T>G (p.Phe820Cys)

SNV
Germline

Chr1:10323984

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA581528

rs_763979844

3 SubmittersRCV001240758 RCV004034659 RCV005232207

NM_170707.4(LMNA):c.185G>T (p.Arg62Leu)

SNV
Germline

Chr1:156115103

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808119

rs_1649721643

1 SubmittersRCV001247423

NM_002437.5(MPV17):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr2:27322496

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA346161106

rs_1679897519

2 SubmittersRCV001239130 RCV003469449

NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter)

SNV
Germline

Chr11:62690814

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA380956804

rs_1945289474

1 SubmittersRCV001240096

NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)

SNV
Germline

Chr12:57498565

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA6650388

rs_772759631

2 SubmittersRCV001242215 RCV004034709

NM_001376.5(DYNC1H1):c.5659C>T (p.Arg1887Cys)

SNV
Germline

Chr14:102006113

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352453

rs_748999002

2 SubmittersRCV001239507 RCV001532745

NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)

SNV
Germline

Chr14:104712521

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372986

rs_376094545

4 SubmittersRCV001246088 RCV002451601 RCV004692327

NM_025137.4(SPG11):c.789A>G (p.Lys263=)

SNV
Germline

Chr15:44657175

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7535721

rs_764439012

3 SubmittersRCV001244779 RCV002221269 RCV002468205 RCV002468204

NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)

SNV
Germline

Chr20:10641850

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764435

rs_111706668

2 SubmittersRCV001246770 RCV002480844

NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr)

SNV
Germline

Chr20:10641856

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408245370

rs_1386302689

3 SubmittersRCV001242041 RCV005036524 RCV005367789

NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln)

SNV
Germline

Chr22:30950427

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10187355

rs_781481050

3 SubmittersRCV001243594 RCV005243490

NM_014874.4(MFN2):c.1287+1G>C

SNV
Germline

Chr1:12004119

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338445623

rs_1639299226

1 SubmittersRCV001230889

NM_001005373.4(LRSAM1):c.1043+1G>A

SNV
Germline

Chr9:127479979

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374931659

rs_373571535

2 SubmittersRCV001225536 RCV003238847

NM_002180.3(IGHMBP2):c.2611+1G>A

SNV
Germline

Chr11:68937092

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381654181

rs_786205090

1 SubmittersRCV001227492

NM_022489.4(INF2):c.986-9C>G

SNV
Germline

Chr14:104707244

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372489

rs_761206810

2 SubmittersRCV001235972

NM_025137.4(SPG11):c.5866+1G>A

SNV
Germline

Chr15:44583813

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA7534333

rs_765725393

8 SubmittersRCV001226466 RCV001780156 RCV005012641

NM_001605.3(AARS1):c.1786-5T>C

SNV
Germline

Chr16:70259191

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8140669

rs_77814513

3 SubmittersRCV001237719 RCV002567913 RCV006455551

NM_001303256.3(MORC2):c.1369+5T>A

SNV
Germline

Chr22:30937810

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10186994

rs_147800268

2 SubmittersRCV001225426 RCV002379856

NM_002180.3(IGHMBP2):c.1236-1G>T

SNV
Germline

Chr11:68933298

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381648529

rs_1124336

1 SubmittersRCV001243549

NM_001370298.3(FGD4):c.1404+5T>C

SNV
Germline

Chr12:32602322

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H

Criteria Provided
Conflicting Classifications

CA6506764

rs_373712001

2 SubmittersRCV001245374 RCV003600406

NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val)

SNV
Germline

Chr12:106410953

Pathogenic

POLR3B-related disorder
Charcot-Marie-Tooth disease, demyelinating, IIA 1I

No Assertion Criteria Provided

CA386387597

rs_2037218302

2 SubmittersRCV001249292 RCV001836975

NM_001376.5(DYNC1H1):c.7421C>T (p.Ala2474Val)

SNV
Germline

Chr14:102016034

Conflicting classifications of pathogenicity

DYNC1H1-related neurodevelopmental disorders
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352810

rs_776990880

2 SubmittersRCV001249749 RCV005094180

NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)

SNV
Germline

Chr12:106457146

Conflicting classifications of pathogenicity

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Conflicting Classifications

CA6762165

rs_371453512

7 SubmittersRCV001249631 RCV003319456 RCV003446665

NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr)

SNV
Germline

Chr14:101986051

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391019439

rs_2047933165

2 SubmittersRCV001283724

NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)

SNV
Germline

Chr17:42536563

Pathogenic/Likely pathogenic

Mucopolysaccharidosistype IIIB
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399595988

rs_2092906798

4 SubmittersRCV001250254 RCV003388937 RCV003770292

NM_001540.5(HSPB1):c.570G>C (p.Gln190His)

SNV
Germline

Chr7:76304125

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Conflicting Classifications

CA4306448

rs_764297134

2 SubmittersRCV001250991

NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg)

SNV
Germline

Chr11:95861997

Likely pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

CA382429344

rs_1864436629

1 SubmittersRCV001255959

NM_000117.3(EMD):c.82+1G>A

SNV
Germline

ChrX:154379567

Likely pathogenic

X-linked Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA415257196

rs_1557182214

2 SubmittersRCV001251168 RCV002221161

NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)

SNV
Germline

Chr17:42543849

Conflicting classifications of pathogenicity

Intellectual disability
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA8577106

rs_199729746

3 SubmittersRCV001252579 RCV001879859

NM_001376.5(DYNC1H1):c.3053T>C (p.Phe1018Ser)

SNV
Germline

Chr14:101994221

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391032090

rs_1318726169

2 SubmittersRCV001253638 RCV002570535

NM_001376.5(DYNC1H1):c.8945G>A (p.Arg2982His)

SNV
Germline

Chr14:102027441

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391010713

rs_2048463341

2 SubmittersRCV001253330 RCV006466134

NM_000166.6(GJB1):c.467T>A (p.Leu156His)

SNV
Germline

ChrX:71224174

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413502628

rs_104894818

1 SubmittersRCV001253189

NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)

SNV
Germline

Chr12:57515335

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA6650783

rs_146851019

3 SubmittersRCV001254626 RCV001364651 RCV004035338

NM_014874.4(MFN2):c.701T>A (p.Met234Lys)

SNV
Germline

Chr1:11998871

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA338438589

rs_1639047697

1 SubmittersRCV001256669

NM_030962.4(SBF2):c.161G>A (p.Trp54Ter)

SNV
Unknown

Chr11:10042962

Likely pathogenic

Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Single Submitter

CA379644041

rs_1166873755

1 SubmittersRCV001262441

NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)

SNV
Germline

Chr17:42536625

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8576707

rs_530062090

6 SubmittersRCV001371823 RCV001835354 RCV004960665 RCV005419061

NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr)

SNV
Germline

Chr7:30609643

Pathogenic

Charcot-Marie-Tooth disease type 2D

No Assertion Criteria Provided

CA367124348

rs_1554337974

1 SubmittersRCV001265531

NM_001303256.3(MORC2):c.1265A>G (p.Glu422Gly)

SNV
Germline

Chr22:30937919

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Conflicting Classifications

CA411238961

rs_2040680054

3 SubmittersRCV001265828 RCV001598685 RCV005094268

NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr15:44622233

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535257

rs_756134516

7 SubmittersRCV001268650 RCV001386275 RCV002451632 RCV005012705

NM_001605.3(AARS1):c.997C>T (p.Arg333Ter)

SNV
Germline

Chr16:70268345

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA283438611

rs_868097991

3 SubmittersRCV001268081 RCV002537705

NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)

SNV
Germline

Chr19:10812270

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B
Centronuclear myopathy

Reviewed By Expert Panel

CA404039368

rs_2072577342

4 SubmittersRCV001268099 RCV001880160 RCV005645243

NM_004990.4(MARS1):c.2391+3A>G

SNV
Germline

Chr12:57515339

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA237772790

rs_995030286

2 SubmittersRCV001391546 RCV002241654

NM_001376.5(DYNC1H1):c.3146A>G (p.Gln1049Arg)

SNV
Germline

Chr14:101994314

Conflicting classifications of pathogenicity

DYNC1H1-related neurodevelopmental disorders
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391032573

rs_1412540989

2 SubmittersRCV001270820 RCV001880220

NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)

SNV
Germline

Chr17:42543448

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290780503

rs_868244206

3 SubmittersRCV001278491 RCV002537798 RCV005672645

NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)

SNV
Germline

Chr22:30946439

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2Z
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA411244914

rs_2040817364

8 SubmittersRCV001280716 RCV001333922 RCV002468630 RCV005443293

NM_022489.4(INF2):c.3418G>A (p.Val1140Ile)

SNV
Germline

Chr14:104714580

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373244

rs_199640596

3 SubmittersRCV001280845 RCV002480929

NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val)

SNV
Germline

Chr22:30937892

Likely pathogenic

Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411238829

rs_2040679845

2 SubmittersRCV001281379 RCV001871631

NM_014874.4(MFN2):c.183C>T (p.Tyr61=)

SNV
Germline

Chr1:11992562

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA416109421

rs_1638734576

2 SubmittersRCV001288130 RCV003120533

NM_014874.4(MFN2):c.263T>C (p.Ile88Thr)

SNV
Germline

Chr1:11992642

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA338462082

rs_1638739035

2 SubmittersRCV001288131 RCV001381190

NM_014874.4(MFN2):c.1782C>T (p.Leu594=)

SNV
Germline

Chr1:12006603

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10871986

rs_950932066

2 SubmittersRCV001288129 RCV002069546

NM_170707.4(LMNA):c.832G>A (p.Ala278Thr)

SNV
Germline

Chr1:156135208

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
LMNA-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342817512

rs_1553265433

4 SubmittersRCV001289083 RCV001863151 RCV004528448 RCV005403014

NM_016156.6(MTMR2):c.1386+8A>C

SNV
Germline

Chr11:95844945

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA6240021

rs_371105248

2 SubmittersRCV001288250 RCV001422889

NM_001376.5(DYNC1H1):c.7409C>T (p.Ala2470Val)

SNV
Germline

Chr14:102016022

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352805

rs_774419538

2 SubmittersRCV001289419 RCV001296226

NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)

SNV
Germline

Chr14:102032418

Pathogenic

Lissencephaly
Condition: not provided
Seizure
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA391020957

rs_2048519381

4 SubmittersRCV001291069 RCV001664806 RCV001849500 RCV003642958

NM_001376.5(DYNC1H1):c.10888G>A (p.Gly3630Ser)

SNV
Germline

Chr14:102036622

Conflicting classifications of pathogenicity

Lissencephaly
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391030027

rs_2048578300

3 SubmittersRCV001291073 RCV002541809 RCV004783944

NM_000530.8(MPZ):c.646-2A>G

SNV
Germline

Chr1:161305979

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, type I

Criteria Provided
Conflicting Classifications

CA343344501

rs_1670228122

3 SubmittersRCV001291549 RCV002538398

NM_001365951.3(KIF1B):c.214C>T (p.Arg72Cys)

SNV
Germline

Chr1:10258523

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA17832775

rs_953019155

2 SubmittersRCV001307703 RCV004034135

NM_001365951.3(KIF1B):c.2869A>G (p.Ser957Gly)

SNV
Germline

Chr1:10326304

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581629

rs_556117169

2 SubmittersRCV001309957 RCV004034221

NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val)

SNV
Germline

Chr1:10374339

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA582239

rs_758879647

3 SubmittersRCV001304871 RCV004036328 RCV005050324

NM_014874.4(MFN2):c.2232G>T (p.Glu744Asp)

SNV
Germline

Chr1:12011523

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Criteria Provided
Conflicting Classifications

CA338454363

rs_756693072

2 SubmittersRCV001295689 RCV005409796

NM_000530.8(MPZ):c.645G>A (p.Gln215=)

SNV
Germline

Chr1:161306108

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA421404127

rs_1670232790

2 SubmittersRCV001302269 RCV003994259

NM_000530.8(MPZ):c.134G>A (p.Arg45Gln)

SNV
Germline

Chr1:161307358

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1210226

rs_760227243

3 SubmittersRCV001307482 RCV002384380 RCV006443817

NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg)

SNV
Germline

Chr1:6468018

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561089

rs_755699992

2 SubmittersRCV001294756 RCV002437003

NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys)

SNV
Germline

Chr5:149027811

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA3499093

rs_752002618

3 SubmittersRCV001296838 RCV002411944 RCV006557330

NM_024577.4(SH3TC2):c.1725G>T (p.Leu575Phe)

SNV
Germline

Chr5:149028007

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA128985094

rs_376266262

3 SubmittersRCV001300369 RCV002411954 RCV006251006

NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser)

SNV
Germline

Chr5:149038401

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA361672807

rs_1233598157

2 SubmittersRCV001304142 RCV002375369

NM_024577.4(SH3TC2):c.122A>G (p.Lys41Arg)

SNV
Germline

Chr5:149052171

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499623

rs_759096245

2 SubmittersRCV001303658 RCV004671326

NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter)

SNV
Germline

Chr9:127461233

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374968104

rs_1168470052

1 SubmittersRCV001296574

NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln)

SNV
Germline

Chr12:109794441

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780256

rs_202244562

4 SubmittersRCV001305886 RCV001699531

NM_001376.5(DYNC1H1):c.200A>G (p.Lys67Arg)

SNV
Germline

Chr14:101964891

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351463

rs_776102549

2 SubmittersRCV001302922 RCV005821960

NM_001376.5(DYNC1H1):c.5987C>G (p.Pro1996Arg)

SNV
Germline

Chr14:102009852

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352540

rs_752903521

2 SubmittersRCV001298700 RCV004036115

NM_001376.5(DYNC1H1):c.11774A>G (p.Gln3925Arg)

SNV
Germline

Chr14:102040319

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353718

rs_760510345

2 SubmittersRCV001299224 RCV003399073

NM_001376.5(DYNC1H1):c.13265A>C (p.Lys4422Thr)

SNV
Germline

Chr14:102048562

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391048007

rs_1463058227

2 SubmittersRCV001298750 RCV002380003

NM_022489.4(INF2):c.509C>T (p.Thr170Met)

SNV
Germline

Chr14:104703296

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372322

rs_767698763

4 SubmittersRCV001300378 RCV003355367 RCV005642504

NM_022489.4(INF2):c.2602C>T (p.Arg868Cys)

SNV
Germline

Chr14:104712545

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7372991

rs_757230162

3 SubmittersRCV001306503 RCV004034099 RCV005432662

NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)

SNV
Germline

Chr15:44572748

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534188

rs_376817637

4 SubmittersRCV001302664 RCV002357100 RCV002261332 RCV002468217 RCV002468218

NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)

SNV
Germline

Chr17:42536376

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399595319

rs_1246249632

1 SubmittersRCV001305508

NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)

SNV
Germline

Chr17:42537473

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399598152

rs_746876753

1 SubmittersRCV001295061

NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr)

SNV
Germline

Chr19:10829051

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201518

rs_752473055

4 SubmittersRCV001302819 RCV002539509 RCV004692451

NM_001005361.3(DNM2):c.2264C>T (p.Thr755Ile)

SNV
Germline

Chr19:10829241

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201560

rs_754691182

2 SubmittersRCV001297340 RCV004619599

NM_181882.3(PRX):c.1987C>T (p.Pro663Ser)

SNV
Germline

Chr19:40396365

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444147

rs_149183991

2 SubmittersRCV001298070 RCV004960702

NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)

SNV
Germline

Chr20:10641465

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764369

rs_750570683

3 SubmittersRCV001301911 RCV002486162 RCV004740660

NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)

SNV
Germline

Chr20:10641548

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764385

rs_767826365

4 SubmittersRCV001309210 RCV002437057 RCV002476429 RCV004740663

NM_001303256.3(MORC2):c.2270A>G (p.Glu757Gly)

SNV
Germline

Chr22:30934115

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10186725

rs_774444542

2 SubmittersRCV001304161 RCV002447303

NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)

SNV
Germline

Chr17:42538691

Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399598919

rs_104894601

2 SubmittersRCV001311889 RCV003770635

NM_001365951.3(KIF1B):c.2304C>T (p.Gly768=)

SNV
Germline

Chr1:10321803

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA415881490

rs_1467745413

2 SubmittersRCV001314011 RCV004034302

NM_170707.4(LMNA):c.869A>T (p.Glu290Val)

SNV
Germline

Chr1:156135245

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817680

rs_1651453317

1 SubmittersRCV001326041

NM_170707.4(LMNA):c.1608A>G (p.Glu536=)

SNV
Germline

Chr1:156137232

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA421069209

rs_1651737692

2 SubmittersRCV001324017 RCV004995681

NM_000530.8(MPZ):c.364A>G (p.Asn122Asp)

SNV
Germline

Chr1:161306792

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343349045

rs_1670263376

2 SubmittersRCV001313103 RCV004998810

NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val)

SNV
Germline

Chr11:62692454

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6053453

rs_140896339

3 SubmittersRCV001323310 RCV002545122 RCV005235563

NM_030962.4(SBF2):c.3250G>A (p.Val1084Ile)

SNV
Germline

Chr11:9842631

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379630799

rs_1331366931

2 SubmittersRCV001315167 RCV004034343

NM_001370298.3(FGD4):c.433T>C (p.Ser145Pro)

SNV
Germline

Chr12:32576379

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6506560

rs_369365466

3 SubmittersRCV001320105 RCV002431915 RCV004998821

NM_001376.5(DYNC1H1):c.8177+6A>G

SNV
Germline

Chr14:102017510

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352942

rs_190495300

2 SubmittersRCV001317653 RCV002431905

NM_001376.5(DYNC1H1):c.13060G>T (p.Asp4354Tyr)

SNV
Germline

Chr14:102047870

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391045882

rs_1449580462

2 SubmittersRCV001321932 RCV002543834

NM_022489.4(INF2):c.359G>A (p.Ser120Asn)

SNV
Germline

Chr14:104701724

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372269

rs_777096903

2 SubmittersRCV001321340

NM_022489.4(INF2):c.695G>A (p.Arg232His)

SNV
Germline

Chr14:104703943

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372390

rs_767940514

2 SubmittersRCV001313738

NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)

SNV
Germline

Chr14:104709668

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372825

rs_772557416

3 SubmittersRCV001324230 RCV002418973

NM_001605.3(AARS1):c.1504A>G (p.Thr502Ala)

SNV
Germline

Chr16:70262513

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8140773

rs_758003106

2 SubmittersRCV001323475 RCV005298785

NM_030973.4(MED25):c.1366C>T (p.Gln456Ter)

SNV
Germline

Chr19:49832149

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA9585243

rs_758524310

2 SubmittersRCV001327582 RCV004556083

NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)

SNV
Germline

Chr20:10648653

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764837

rs_370107709

3 SubmittersRCV001317558 RCV002395679 RCV002476481

NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)

SNV
Germline

Chr1:116399502

Likely pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA341774275

rs_1653241392

2 SubmittersRCV001331357 RCV001800984

NM_170707.4(LMNA):c.133T>C (p.Tyr45His)

SNV
Germline

Chr1:156115051

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342807839

rs_1649714371

3 SubmittersRCV001328735 RCV001823197 RCV003581785

NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)

SNV
Germline

Chr1:156115105

Conflicting classifications of pathogenicity

Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2
not specified
11 conditions
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA30999173

rs_899373360

6 SubmittersRCV001330500 RCV001367762 RCV001823769 RCV002499650 RCV003365335 RCV006548147

NM_020631.6(PLEKHG5):c.1393-16C>G

SNV
Germline

Chr1:6470900

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Conflicting Classifications

CA561523

rs_747761762

2 SubmittersRCV001329763 RCV005225376

NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)

SNV
Germline

Chr5:149044535

Pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361676466

rs_1754425628

2 SubmittersRCV001332528

NM_030962.4(SBF2):c.610C>T (p.Gln204Ter)

SNV
Germline

Chr11:10028461

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA217677691

rs_141133392

1 SubmittersRCV002948236

NM_002180.3(IGHMBP2):c.1537+5G>A

SNV
Germline

Chr11:68933918

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Conflicting Classifications

CA2499221266

rs_1859419489

2 SubmittersRCV001332101 RCV003992498

NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)

SNV
Germline

Chr13:23335160

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6910728

rs_750732115

9 SubmittersRCV001328754 RCV001386448 RCV001820019 RCV005626399

NM_181882.3(PRX):c.2719C>T (p.Gln907Ter)

SNV
Unknown

Chr19:40395633

Likely pathogenic

Charcot-Marie-Tooth disease type 4F

Criteria Provided
Single Submitter

CA405895721

rs_2079426412

1 SubmittersRCV001330567

NM_002972.4(SBF1):c.161G>A (p.Trp54Ter)

SNV
Unknown

Chr22:50467904

Likely pathogenic

Charcot-Marie-Tooth disease type 4B3

Criteria Provided
Single Submitter

CA412224430

rs_1556436855

1 SubmittersRCV001332200

NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)

SNV
Germline

ChrX:71223999

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA413501801

rs_2092543877

2 SubmittersRCV001329667 RCV005094410

NM_170707.4(LMNA):c.810+17G>A

SNV
Germline

Chr1:156134992

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA054361

rs_771192755

2 SubmittersRCV001337052 RCV003745314

NM_006096.4(NDRG1):c.537+18C>T

SNV
Germline

Chr8:133256759

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA4886712

rs_779638529

2 SubmittersRCV001335378 RCV002070200

NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter)

SNV
Germline

Chr10:12097688

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Q
2-aminoadipic 2-oxoadipic aciduria
DHTKD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5407837

rs_201369986

3 SubmittersRCV001335922 RCV001865840 RCV004749660

NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)

SNV
Germline

Chr11:62690396

Conflicting classifications of pathogenicity

Severe neurodegenerative syndrome with lipodystrophy
Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6053243

rs_138515091

3 SubmittersRCV001335244 RCV001388949 RCV006266711

NM_004990.4(MARS1):c.1294-19C>G

SNV
Germline

Chr12:57504206

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA237761986

rs_368800423

2 SubmittersRCV001334345 RCV002546680

NM_001376.5(DYNC1H1):c.12514-5A>G

SNV
Germline

Chr14:102043870

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353965

rs_774476953

2 SubmittersRCV001335827

NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu)

SNV
Germline

Chr19:10808575

Conflicting classifications of pathogenicity

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA9201233

rs_753402698

2 SubmittersRCV001334631 RCV002070188

NM_021076.4(NEFH):c.2327C>G (p.Ser776Cys)

SNV
Germline

Chr22:29489967

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2CC
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10174403

rs_201520640

3 SubmittersRCV001336537 RCV002456468 RCV002546782

NM_002972.4(SBF1):c.2763A>G (p.Ala921=)

SNV
Germline

Chr22:50461599

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10317061

rs_754332334

3 SubmittersRCV001335998 RCV002070209

NM_001365951.3(KIF1B):c.1346G>A (p.Ser449Asn)

SNV
Germline

Chr1:10282445

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580942

rs_776678008

2 SubmittersRCV001346678 RCV004036497

NM_000530.8(MPZ):c.437T>C (p.Val146Ala)

SNV
Germline

Chr1:161306719

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343348210

rs_1571818614

1 SubmittersRCV001349555

NM_000530.8(MPZ):c.88A>G (p.Ile30Val)

SNV
Germline

Chr1:161307404

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA343351622

rs_1386345719

3 SubmittersRCV001350133 RCV002473277 RCV004036610

NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp)

SNV
Germline

Chr3:128807624

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA82632196

rs_963894786

2 SubmittersRCV001345681 RCV005437095

NM_004637.6(RAB7A):c.503C>T (p.Thr168Met)

SNV
Germline

Chr3:128807646

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2600852

rs_141978327

2 SubmittersRCV001351229 RCV005262428

NM_021629.4(GNB4):c.803A>G (p.Asn268Ser)

SNV
Germline

Chr3:179405303

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA88740347

rs_200411099

2 SubmittersRCV001342011 RCV002546945

NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe)

SNV
Germline

Chr5:149026608

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3498876

rs_144733764

3 SubmittersRCV001343590 RCV002438789 RCV003136006

NM_018972.4(GDAP1):c.153C>T (p.Cys51=)

SNV
Germline

Chr8:74351309

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA461462374

rs_1413222465

2 SubmittersRCV001339283 RCV006443827

NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)

SNV
Germline

Chr8:74360292

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA371548931

rs_1809302381

2 SubmittersRCV001347142 RCV002473275

NM_021625.5(TRPV4):c.838G>A (p.Gly280Ser)

SNV
Germline

Chr12:109800633

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386655258

rs_763354006

1 SubmittersRCV001349395

NM_001376.5(DYNC1H1):c.12797A>G (p.Asn4266Ser)

SNV
Germline

Chr14:102044386

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354037

rs_760229878

2 SubmittersRCV001339608 RCV002377440

NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)

SNV
Germline

Chr14:104714371

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373203

rs_374424323

4 SubmittersRCV001344104 RCV002547001 RCV003132437

NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro)

SNV
Germline

Chr14:104714419

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373216

rs_368869709

5 SubmittersRCV001345576 RCV001560071 RCV002322289

NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser)

SNV
Germline

Chr16:70261088

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Developmental and epileptic encephalopathy, 29

Criteria Provided
Conflicting Classifications

CA8140699

rs_762734676

2 SubmittersRCV001340068 RCV001509586

NM_000304.4(PMP22):c.434T>G (p.Leu145Arg)

SNV
Germline

Chr17:15230966

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398739539

rs_1906263385

1 SubmittersRCV001351428

NM_001005361.3(DNM2):c.1873G>A (p.Val625Ile)

SNV
Germline

Chr19:10823879

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201423

rs_759242886

3 SubmittersRCV001349851 RCV002413826 RCV005634096

NM_001005361.3(DNM2):c.2523G>T (p.Gly841=)

SNV
Germline

Chr19:10830358

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA305272246

rs_1028907663

2 SubmittersRCV001344230 RCV002269362

NM_181882.3(PRX):c.2373G>C (p.Gln791His)

SNV
Germline

Chr19:40395979

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444066

rs_764404206

2 SubmittersRCV001342432 RCV002456486

NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)

SNV
Germline

Chr20:10639826

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9764223

rs_150811951

4 SubmittersRCV001351919 RCV002322306 RCV002486458 RCV004815441

NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn)

SNV
Germline

Chr20:10648674

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764841

rs_766370717

4 SubmittersRCV002469378 RCV001347805 RCV003294367 RCV005023070

NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)

SNV
Germline

Chr20:10649549

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA408238147

rs_1327002160

4 SubmittersRCV001349261 RCV002384487 RCV003130490 RCV005023075

NM_000214.3(JAG1):c.978G>A (p.Glu326=)

SNV
Germline

Chr20:10652159

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA509661857

rs_1480738447

3 SubmittersRCV001351249 RCV002499704 RCV004629597

NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)

SNV
Germline

Chr20:10672739

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9765176

rs_752608779

4 SubmittersRCV001341202 RCV002499675 RCV004720863 RCV005582709

NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val)

SNV
Germline

Chr12:106427219

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
POLR3B-related disorder

Criteria Provided
Single Submitter

CA386388104

rs_2037451945

3 SubmittersRCV001353050 RCV001836991 RCV004548196

NM_018082.6(POLR3B):c.3137G>A (p.Arg1046His)

SNV
Germline

Chr12:106504119

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Multiple Submitters
No Conflicts

CA386393936

rs_2038648611

3 SubmittersRCV001353051 RCV001836992

NM_006096.4(NDRG1):c.237C>A (p.Tyr79Ter)

SNV
Germline

Chr8:133262136

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4D

Criteria Provided
Multiple Submitters
No Conflicts

CA372256335

rs_199928197

2 SubmittersRCV001353163

NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter)

SNV
Germline

Chr8:24956462

Likely pathogenic

Charcot-Marie-Tooth disease type 1F

Criteria Provided
Single Submitter

CA370624181

rs_1431523432

1 SubmittersRCV001353164

NM_014874.4(MFN2):c.700A>G (p.Met234Val)

SNV
Germline

Chr1:11998870

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338438564

rs_2100831955

2 SubmittersRCV001362083 RCV006437047

NM_170707.4(LMNA):c.937-7C>A

SNV
Germline

Chr1:156135894

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31012903

rs_267607681

3 SubmittersRCV001367857 RCV001820069 RCV005401831

NM_170707.4(LMNA):c.1040A>C (p.Glu347Ala)

SNV
Germline

Chr1:156136004

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820250

rs_1449688220

1 SubmittersRCV001373565

NM_170707.4(LMNA):c.1115A>T (p.Glu372Val)

SNV
Germline

Chr1:156136079

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342820500

rs_2102888292

2 SubmittersRCV001366528 RCV002438853

NM_024577.4(SH3TC2):c.3287A>G (p.Asn1096Ser)

SNV
Germline

Chr5:149010310

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498795

rs_768331573

2 SubmittersRCV001370226 RCV003169898

NM_024577.4(SH3TC2):c.1097C>G (p.Thr366Ser)

SNV
Germline

Chr5:149031592

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499293

rs_769250455

2 SubmittersRCV001369001 RCV002550081

NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys)

SNV
Germline

Chr12:57512789

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6650622

rs_764601965

2 SubmittersRCV001365406 RCV004546640

NM_001376.5(DYNC1H1):c.5035C>T (p.Arg1679Trp)

SNV
Germline

Chr14:102004669

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391045217

rs_1351401023

1 SubmittersRCV001361479

NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp)

SNV
Germline

Chr14:102039494

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353637

rs_754712755

4 SubmittersRCV001366853 RCV002350695 RCV002499747 RCV006279644

NM_001376.5(DYNC1H1):c.11686G>A (p.Val3896Met)

SNV
Germline

Chr14:102039728

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353689

rs_567629350

2 SubmittersRCV001373533 RCV003399186

NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala)

SNV
Germline

Chr16:70252858

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8140269

rs_766897796

2 SubmittersRCV001360832 RCV002290694

NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)

SNV
Germline

Chr20:10639593

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311367274

rs_1051571820

3 SubmittersRCV001359315 RCV002486499 RCV004034526

NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)

SNV
Germline

Chr20:10639757

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764211

rs_373260040

3 SubmittersRCV001372709 RCV002493898 RCV004550092

NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)

SNV
Germline

Chr20:10641675

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764410

rs_372904306

3 SubmittersRCV001369546 RCV003169894 RCV002493884

NM_002972.4(SBF1):c.2288G>A (p.Arg763His)

SNV
Germline

Chr22:50462313

Likely pathogenic

Charcot-Marie-Tooth disease type 4B3

No Assertion Criteria Provided

CA10317286

rs_200624784

1 SubmittersRCV001449576

NM_014874.4(MFN2):c.828G>T (p.Gln276His)

SNV
Germline

Chr1:12001412

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338441430

rs_1569851570

1 SubmittersRCV001377645

NM_170707.4(LMNA):c.112C>G (p.Leu38Val)

SNV
Germline

Chr1:156115030

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807628

rs_2102817550

1 SubmittersRCV001379195

NM_170707.4(LMNA):c.513+2T>C

SNV
Germline

Chr1:156130775

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815748

rs_1553264668

1 SubmittersRCV001377378

NM_000530.8(MPZ):c.448+2T>C

SNV
Germline

Chr1:161306706

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343348067

rs_1670257221

1 SubmittersRCV001379624

NM_000530.8(MPZ):c.277G>A (p.Gly93Arg)

SNV
Germline

Chr1:161306879

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA343349737

rs_1553259691

2 SubmittersRCV001378760 RCV002246358

NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)

SNV
Germline

Chr2:27311932

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA1575514

rs_763400903

3 SubmittersRCV001376805 RCV002499772 RCV003469619

NM_024577.4(SH3TC2):c.3327+1G>A

SNV
Germline

Chr5:149010269

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361664773

rs_2127392839

1 SubmittersRCV001377754

NM_024577.4(SH3TC2):c.806-2A>G

SNV
Germline

Chr5:149038492

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA128995066

rs_1041389207

1 SubmittersRCV001376848

NM_024577.4(SH3TC2):c.53-2A>G

SNV
Germline

Chr5:149052242

Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361681905

rs_2127403412

2 SubmittersRCV001379625 RCV006457071

NM_014845.6(FIG4):c.876+2T>G

SNV
Germline

Chr6:109741546

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365221488

rs_2128386656

1 SubmittersRCV001379797

NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg)

SNV
Germline

Chr7:30612221

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA367125547

rs_2128134025

2 SubmittersRCV001378844 RCV001751749

NM_006096.4(NDRG1):c.755+1G>A

SNV
Germline

Chr8:133248714

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D

Criteria Provided
Conflicting Classifications

CA372255138

rs_2130692394

2 SubmittersRCV001379811 RCV005094514

NM_006096.4(NDRG1):c.99+1G>A

SNV
Germline

Chr8:133280231

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372247985

rs_2130785568

1 SubmittersRCV001376869

NM_018972.4(GDAP1):c.117+1G>A

SNV
Germline

Chr8:74350579

Likely pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371499217

rs_1808804404

1 SubmittersRCV001378845

NM_030962.4(SBF2):c.56-1G>A

SNV
Germline

Chr11:10193988

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379850674

rs_2135330973

1 SubmittersRCV001379782

NM_001122955.4(BSCL2):c.1006-1G>A

SNV
Germline

Chr11:62691142

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA6053363

rs_777430457

1 SubmittersRCV001379197

NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg)

SNV
Germline

Chr11:68935396

Pathogenic/Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381651276

rs_1483165002

2 SubmittersRCV001377632 RCV005432696

NM_016156.6(MTMR2):c.1187T>C (p.Leu396Pro)

SNV
Germline

Chr11:95845152

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA6240046

rs_770852495

1 SubmittersRCV001377269

NM_030962.4(SBF2):c.5038-2A>G

SNV
Germline

Chr11:9785320

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379631843

rs_2133850270

1 SubmittersRCV001377306

NM_025137.4(SPG11):c.443-1G>A

SNV
Germline

Chr15:44659304

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA270109715

rs_1040633382

2 SubmittersRCV001377267 RCV004796615

NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)

SNV
Germline

Chr17:42537471

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399598146

rs_1352416909

3 SubmittersRCV001378696 RCV001831358

NM_000263.4(NAGLU):c.532-1G>C

SNV
Germline

Chr17:42538338

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598326

rs_2143086378

1 SubmittersRCV001379037

NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)

SNV
Germline

Chr17:42543087

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA8576955

rs_766000735

2 SubmittersRCV001378698 RCV005614529

NM_001005361.3(DNM2):c.1115T>C (p.Phe372Ser)

SNV
Germline

Chr19:10793842

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Single Submitter

CA404048070

rs_2146014404

1 SubmittersRCV001379334

NM_170707.4(LMNA):c.1A>T (p.Met1Leu)

SNV
Germline

Chr1:156114919

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342805814

rs_2102816719

1 SubmittersRCV001390690

NM_170707.4(LMNA):c.194A>G (p.Glu65Gly)

SNV
Germline

Chr1:156115112

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342808163

rs_2102818172

2 SubmittersRCV001387324 RCV005635147

NM_170707.4(LMNA):c.275T>C (p.Leu92Pro)

SNV
Germline

Chr1:156115193

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808568

rs_2102818731

1 SubmittersRCV001384525

NM_170707.4(LMNA):c.481G>T (p.Glu161Ter)

SNV
Germline

Chr1:156130741

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815589

rs_28933093

1 SubmittersRCV001381102

NM_170707.4(LMNA):c.1150G>A (p.Glu384Lys)

SNV
Germline

Chr1:156136114

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820652

rs_2102888695

1 SubmittersRCV001381143

NM_170707.4(LMNA):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr1:156136954

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822539

rs_2102893828

1 SubmittersRCV001390362

NM_170707.4(LMNA):c.1608+2T>G

SNV
Germline

Chr1:156137234

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342823673

rs_2102896324

2 SubmittersRCV001388734 RCV002395876

NM_000530.8(MPZ):c.171G>A (p.Trp57Ter)

SNV
Germline

Chr1:161307321

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343350878

rs_2102259979

1 SubmittersRCV001382906

NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter)

SNV
Germline

Chr1:6469142

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Multiple Submitters
No Conflicts

CA338118522

rs_184242303

2 SubmittersRCV001386746

NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter)

SNV
Germline

Chr1:6473061

Pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Single Submitter

CA338134179

rs_376900021

1 SubmittersRCV001381013

NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter)

SNV
Germline

Chr5:149012710

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361663129

rs_2127393407

1 SubmittersRCV001382126

NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter)

SNV
Germline

Chr5:149026957

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA3498934

rs_757701609

1 SubmittersRCV001390617

NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter)

SNV
Germline

Chr5:149028186

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361668285

rs_2127397561

1 SubmittersRCV001389903

NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr5:149041471

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361674339

rs_2127400649

1 SubmittersRCV001380145

NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter)

SNV
Germline

Chr6:109735183

Pathogenic

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA3955829

rs_760575768

2 SubmittersRCV001382831 RCV002551533

NM_006096.4(NDRG1):c.205+2T>A

SNV
Germline

Chr8:133264545

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372256419

rs_1586451553

1 SubmittersRCV001386600

NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr8:133284296

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA186360412

rs_1048918488

4 SubmittersRCV001389678 RCV002413920 RCV006279670

NM_006158.5(NEFL):c.1099C>T (p.Arg367Ter)

SNV
Germline

Chr8:24954251

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

CA4681347

rs_201616934

1 SubmittersRCV001387360

NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr8:74350483

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371499009

rs_1586794015

1 SubmittersRCV001390517

NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter)

SNV
Germline

Chr8:74360152

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA4785083

rs_751986220

1 SubmittersRCV001381579

NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter)

SNV
Germline

Chr8:74361976

Pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Single Submitter

CA371549319

rs_1085307665

2 SubmittersRCV001385685 RCV003447323

NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter)

SNV
Germline

Chr9:127479923

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374931534

rs_1156243243

1 SubmittersRCV001386892

NM_001005373.4(LRSAM1):c.1144C>T (p.Arg382Ter)

SNV
Germline

Chr9:127483005

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P
LRSAM1-related disorder
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA199849239

rs_752177472

3 SubmittersRCV001390596 RCV004756229 RCV005912659

NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu)

SNV
Germline

Chr10:62813496

Pathogenic

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377027527

rs_281865137

2 SubmittersRCV001389257 RCV001562992

NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter)

SNV
Germline

Chr11:68908261

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA223385710

rs_1015531394

1 SubmittersRCV001389576

NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr11:95845021

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA6240031

rs_751677491

1 SubmittersRCV001381183

NM_030962.4(SBF2):c.1879G>T (p.Glu627Ter)

SNV
Germline

Chr11:9895993

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379646401

rs_1433023728

1 SubmittersRCV001390841

NM_021625.5(TRPV4):c.709C>G (p.Arg237Gly)

SNV
Germline

Chr12:109802994

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386655934

rs_746368269

1 SubmittersRCV001386963

NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter)

SNV
Germline

Chr12:32625686

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA6506985

rs_751404531

1 SubmittersRCV001385811

NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala)

SNV
Germline

Chr14:101985964

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Multiple Submitters
No Conflicts

CA391019174

rs_2141274671

2 SubmittersRCV001389363 RCV004554862

NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)

SNV
Germline

Chr15:44596085

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Juvenile amyotrophic lateral sclerosis
Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392227288

rs_2140971559

2 SubmittersRCV001384631 RCV003483829

NM_000304.4(PMP22):c.236C>T (p.Ser79Phe)

SNV
Germline

Chr17:15239554

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398268094

rs_104894618

1 SubmittersRCV001385499

NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter)

SNV
Germline

Chr17:42537446

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA8576766

rs_748042028

1 SubmittersRCV001383909

NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter)

SNV
Germline

Chr17:42537468

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598142

rs_1261241939

1 SubmittersRCV001382928

NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter)

SNV
Germline

Chr17:42538410

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598506

rs_2143086665

1 SubmittersRCV001390366

NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr17:42543168

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA290780186

rs_879111128

1 SubmittersRCV001389201

NM_181882.3(PRX):c.205C>T (p.Arg69Ter)

SNV
Germline

Chr19:40398796

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA405901390

rs_2079467367

1 SubmittersRCV001389527

NM_001365951.3(KIF1B):c.2892C>T (p.Tyr964=)

SNV
Germline

Chr1:10326327

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA17836936

rs_986716280

2 SubmittersRCV001419737 RCV004038172

NM_020631.6(PLEKHG5):c.1393-5C>T

SNV
Germline

Chr1:6470889

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561519

rs_780578894

2 SubmittersRCV001396617 RCV002395891

NM_001376.5(DYNC1H1):c.4543-5A>C

SNV
Germline

Chr14:102002532

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA266995571

rs_903101532

3 SubmittersRCV001410287 RCV002554011 RCV003963299

NM_001005361.3(DNM2):c.1558-5C>A

SNV
Germline

Chr19:10812259

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201310

rs_777800520

2 SubmittersRCV001414026 RCV002404972

NM_003680.4(YARS1):c.45C>T (p.Thr15=)

SNV
Germline

Chr1:32817200

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA417071934

rs_1488727812

2 SubmittersRCV001426045 RCV003320836

NM_007289.4(MME):c.881A>G (p.Asn294Ser)

SNV
Germline

Chr3:155140216

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia 43
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Conflicting Classifications

CA2675317

rs_201002280

3 SubmittersRCV001447550 RCV002560322 RCV005395023

NM_021629.4(GNB4):c.918T>G (p.Gly306=)

SNV
Germline

Chr3:179401318

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA437079769

rs_1714292732

2 SubmittersRCV001421058 RCV004793485

NM_015271.5(TRIM2):c.282C>T (p.Ser94=)

SNV
Germline

Chr4:153275959

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2R
Condition: not provided

Criteria Provided
Conflicting Classifications

CA441780839

rs_1190110289

2 SubmittersRCV001447608 RCV003238369

NM_024577.4(SH3TC2):c.2342G>T (p.Ser781Ile)

SNV
Germline

Chr5:149027390

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499020

rs_201934740

2 SubmittersRCV001441617 RCV002449189

NM_022489.4(INF2):c.636C>T (p.Arg212=)

SNV
Germline

Chr14:104703423

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Kidney disorder

Criteria Provided
Conflicting Classifications

CA7372347

rs_373383463

2 SubmittersRCV001438966 RCV002294459

NM_000214.3(JAG1):c.2715C>T (p.His905=)

SNV
Germline

Chr20:10641661

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA509816147

rs_2122596864

2 SubmittersRCV001422254 RCV005038219

NM_002972.4(SBF1):c.2289C>T (p.Arg763=)

SNV
Germline

Chr22:50462312

Pathogenic

Charcot-Marie-Tooth disease type 4B3

No Assertion Criteria Provided

CA515383899

rs_2148590692

1 SubmittersRCV001449644

NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu)

SNV
Germline

Chr22:50460364

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B3
Tip-toe gait
Condition: not provided
not specified
SBF1-related disorder

Criteria Provided
Conflicting Classifications

CA10316830

rs_201200122

7 SubmittersRCV001449656 RCV001815554 RCV001872001 RCV003317498 RCV003416343

NM_170707.4(LMNA):c.1362G>A (p.Leu454=)

SNV
Germline

Chr1:156136418

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049977

rs_151160622

3 SubmittersRCV001453275 RCV002384705 RCV004007051

NM_014845.6(FIG4):c.272C>T (p.Ser91Leu)

SNV
Germline

Chr6:109716551

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3955722

rs_753543659

2 SubmittersRCV001472359 RCV002439123

NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser)

SNV
Germline

Chr11:68933859

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6153660

rs_201964221

2 SubmittersRCV001459522 RCV003130522

NM_021625.5(TRPV4):c.2349G>A (p.Val783=)

SNV
Germline

Chr12:109784425

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6779939

rs_778478432

3 SubmittersRCV001450110 RCV001762684

NM_001376.5(DYNC1H1):c.11472G>A (p.Leu3824=)

SNV
Germline

Chr14:102039423

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353627

rs_775618965

2 SubmittersRCV001458176 RCV006258611

NM_022489.4(INF2):c.1458C>T (p.Phe486=)

SNV
Germline

Chr14:104707725

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Kidney disorder
INF2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA488716182

rs_1420347614

5 SubmittersRCV001473681 RCV002294460 RCV003908723 RCV004690107

NM_022489.4(INF2):c.2776-5T>C

SNV
Germline

Chr14:104713202

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA616584785

rs_1442200771

2 SubmittersRCV001460994 RCV002439093

NM_001365951.3(KIF1B):c.3630C>T (p.Asn1210=)

SNV
Germline

Chr1:10342166

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA17843730

rs_910542787

2 SubmittersRCV001488821 RCV004037292

NM_020631.6(PLEKHG5):c.1543-5C>T

SNV
Germline

Chr1:6470648

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA737849558

rs_1281567980

2 SubmittersRCV001504469 RCV002405198

NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)

SNV
Germline

Chr20:10642563

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764483

rs_574205422

3 SubmittersRCV001487548 RCV002432367 RCV002495730

NM_003680.4(YARS1):c.497A>G (p.Tyr166Cys)

SNV
Germline

Chr1:32806495

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate C

Criteria Provided
Conflicting Classifications

CA339686721

rs_2148614924

4 SubmittersRCV001507948 RCV002241189

NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)

SNV
Germline

Chr1:6470298

Pathogenic/Likely pathogenic

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Multiple Submitters
No Conflicts

CA561385

rs_760122001

2 SubmittersRCV001507928 RCV001865928

NM_024577.4(SH3TC2):c.2449G>T (p.Asp817Tyr)

SNV
Germline

Chr5:149027283

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498994

rs_373153093

3 SubmittersRCV001507654 RCV001882545 RCV006377292

NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter)

SNV
Germline

Chr5:149040611

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA361673842

rs_377509077

2 SubmittersRCV001507658 RCV001882546

NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)

SNV
Germline

Chr17:42543088

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
not specified
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA399601094

rs_753454744

4 SubmittersRCV001508802 RCV002564261 RCV004587172 RCV005606954

NM_005391.5(PDK3):c.523G>A (p.Asp175Asn)

SNV
Germline

ChrX:24505226

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 6
not specified

Criteria Provided
Conflicting Classifications

CA10372298

rs_149603823

2 SubmittersRCV001510583 RCV004837809

NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)

SNV
Germline

Chr5:149027133

Pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361666036

rs_2127397072

1 SubmittersRCV001526837

NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)

SNV
Germline

Chr10:69288762

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4G
Neurodevelopmental disorder with visual defects and brain anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA5532060

rs_779250530

3 SubmittersRCV001526839 RCV005208165

NM_004990.4(MARS1):c.1793G>A (p.Arg598His)

SNV
Germline

Chr12:57512790

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA6650623

rs_749954063

2 SubmittersRCV001647326 RCV002241368

NM_000701.8(ATP1A1):c.1001A>G (p.Glu334Gly)

SNV
Germline

Chr1:116389685

Likely pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD

No Assertion Criteria Provided

CA341844201

rs_2101045655

1 SubmittersRCV001528137

NM_002180.3(IGHMBP2):c.1061-2A>G

SNV
Germline

Chr11:68929181

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Multiple Submitters
No Conflicts

CA381647367

rs_1424522130

2 SubmittersRCV001530179 RCV003771640

NM_022489.4(INF2):c.1735+1G>A

SNV
Unknown

Chr14:104708003

Likely pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391218236

rs_2140670271

1 SubmittersRCV001536106

NM_000530.8(MPZ):c.68-2A>C

SNV
Germline

Chr1:161307426

Likely pathogenic

Peripheral neuropathy
Charcot-Marie-Tooth disease, type I

Criteria Provided
Multiple Submitters
No Conflicts

CA343351748

rs_2102260263

2 SubmittersRCV001814362 RCV005094749

NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys)

SNV
Germline

Chr12:106430333

Conflicting classifications of pathogenicity

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Conflicting Classifications

CA386389045

rs_1442212683

3 SubmittersRCV001542044 RCV002254967 RCV004698353

NM_018082.6(POLR3B):c.1999G>A (p.Val667Met)

SNV
Germline

Chr12:106444506

Conflicting classifications of pathogenicity

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Conflicting Classifications

CA6762097

rs_756536922

8 SubmittersRCV001542024 RCV001751792 RCV004691435

NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys)

SNV
Germline

Chr12:106501346

Conflicting classifications of pathogenicity

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Conflicting Classifications

CA6762384

rs_368953286

4 SubmittersRCV001542035 RCV004698549

NM_007289.4(MME):c.2050C>T (p.Gln684Ter)

SNV
Germline

Chr3:155172186

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA86316113

rs_200678412

3 SubmittersRCV001542568 RCV001859360

NM_022489.4(INF2):c.485T>C (p.Leu162Pro)

SNV
Germline

Chr14:104703198

Likely pathogenic

Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

CA391213012

rs_2140647298

2 SubmittersRCV001542484 RCV005005955

NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)

SNV
Germline

Chr17:42543441

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA8577017

rs_202115696

7 SubmittersRCV001547422 RCV001826393 RCV002570675

NM_014874.4(MFN2):c.382C>T (p.His128Tyr)

SNV
Germline

Chr1:11996226

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Multiple Submitters
No Conflicts

CA338434489

rs_2100822486

5 SubmittersRCV001555391 RCV002032606 RCV004801036

NM_001376.5(DYNC1H1):c.10574G>A (p.Arg3525His)

SNV
Germline

Chr14:102034136

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA391027404

rs_2152592202

2 SubmittersRCV001555570 RCV002032609

NM_001376.5(DYNC1H1):c.2624C>T (p.Ser875Leu)

SNV
Germline

Chr14:101987538

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351855

rs_184868637

2 SubmittersRCV001563134 RCV003528313

NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)

SNV
Germline

Chr17:42543218

Conflicting classifications of pathogenicity

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
See cases

Criteria Provided
Conflicting Classifications

CA8576980

rs_777670507

5 SubmittersRCV001563235 RCV001865986 RCV003156140

NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met)

SNV
Germline

Chr11:68933808

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Conflicting Classifications

CA381649657

rs_2154008642

2 SubmittersRCV001568209 RCV003771731

NM_001376.5(DYNC1H1):c.2441C>G (p.Ala814Gly)

SNV
Germline

Chr14:101986666

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351818

rs_140342004

2 SubmittersRCV001565651 RCV003642964

NM_022489.4(INF2):c.1615G>A (p.Val539Met)

SNV
Germline

Chr14:104707882

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372609

rs_769014945

4 SubmittersRCV001567137 RCV001859413 RCV002405250

NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)

SNV
Germline

Chr1:156135902

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342819726

rs_2102886618

3 SubmittersRCV001866011 RCV001568706

NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)

SNV
Germline

Chr7:30594980

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4205580

rs_756664556

4 SubmittersRCV003987879 RCV001570172 RCV002241378

NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter)

SNV
Germline

Chr8:24956099

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA370622466

rs_545637885

2 SubmittersRCV001585250 RCV001866184

NM_001376.5(DYNC1H1):c.8343+4C>T

SNV
Germline

Chr14:102018620

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA616580460

rs_771447934

2 SubmittersRCV001587046 RCV001866202

NM_001376.5(DYNC1H1):c.1103G>A (p.Arg368Gln)

SNV
Germline

Chr14:101983160

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391013160

rs_2141272334

5 SubmittersRCV001587095 RCV001866203 RCV005253867 RCV006352355

NM_001376.5(DYNC1H1):c.2275C>T (p.Arg759Cys)

SNV
Germline

Chr14:101986500

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391022484

rs_1303476982

3 SubmittersRCV001589895 RCV003642967

NM_001376.5(DYNC1H1):c.13546G>A (p.Val4516Met)

SNV
Germline

Chr14:102049744

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391050086

rs_1158295938

2 SubmittersRCV001588511 RCV003642969

NM_021625.5(TRPV4):c.1780C>A (p.Arg594Ser)

SNV
Germline

Chr12:109792696

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA386652192

rs_868185064

2 SubmittersRCV001596892 RCV006467751

NM_001376.5(DYNC1H1):c.5049+8T>C

SNV
Germline

Chr14:102004691

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA2499222521

rs_2141288581

2 SubmittersRCV001663421 RCV002073089

NM_006158.5(NEFL):c.628G>C (p.Glu210Gln)

SNV
Germline

Chr8:24955888

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA370621989

rs_199422214

3 SubmittersRCV001663506 RCV003132527 RCV005057542

NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)

SNV
Germline

Chr6:109732644

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA365218332

rs_1175493477

3 SubmittersRCV001663567 RCV002538573 RCV004616761

NM_021625.5(TRPV4):c.1064G>A (p.Arg355His)

SNV
Germline

Chr12:109798702

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780361

rs_764715510

3 SubmittersRCV001663643 RCV002032654 RCV002414294

NM_001005361.3(DNM2):c.2292-7C>T

SNV
Germline

Chr19:10830120

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA2499225266

rs_2073285852

2 SubmittersRCV001665518 RCV002073112

NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys)

SNV
Germline

Chr1:159193453

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, type 2FF
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343055131

rs_2102125471

3 SubmittersRCV001678582 RCV004728783

NM_006158.5(NEFL):c.65C>T (p.Pro22Leu)

SNV
Germline

Chr8:24956451

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA370624142

rs_267607538

2 SubmittersRCV001682660 RCV002539681

NM_001365951.3(KIF1B):c.2115+6581G>A

SNV
Germline

Chr1:10303827

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA581282

rs_41274460

7 SubmittersRCV001702996 RCV005396972

NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)

SNV
Germline

Chr14:102032404

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391020851

rs_2152591288

5 SubmittersRCV001726716 RCV001882790 RCV001815623

NM_014845.6(FIG4):c.1389-5C>T

SNV
Germline

Chr6:109763932

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
not specified

Criteria Provided
Conflicting Classifications

CA3956072

rs_377752443

3 SubmittersRCV001727375 RCV002073400 RCV003151347

NM_004208.4(AIFM1):c.776C>G (p.Ala259Gly)

SNV
Germline

ChrX:130140538

Likely pathogenic

Charcot-Marie-Tooth disease X-linked recessive 4

Criteria Provided
Single Submitter

CA414582932

rs_2124656989

1 SubmittersRCV002051593

NM_014874.4(MFN2):c.746C>G (p.Ser249Cys)

SNV
Germline

Chr1:11999025

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA338439102

rs_794729198

2 SubmittersRCV002221162 RCV002539783

NM_000166.6(GJB1):c.320G>A (p.Arg107Gln)

SNV
Germline

ChrX:71224027

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Conflicting Classifications

CA413501913

rs_1383588318

3 SubmittersRCV001753910 RCV002221163 RCV002538695

NM_006308.3(HSPB3):c.279G>A (p.Trp93Ter)

SNV
Germline

Chr5:54456068

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA3264651

rs_142626276

2 SubmittersRCV002246466 RCV002221180

NM_004984.4(KIF5A):c.2987A>G (p.Asp996Gly)

SNV
Germline

Chr12:57581947

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA385516821

rs_2140172189

1 SubmittersRCV002221181

NM_021815.5(SLC5A7):c.1113+2T>A

SNV
Germline

Chr2:108008684

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA348113865

rs_2104379614

1 SubmittersRCV002221639

NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg)

SNV
Germline

Chr1:116393708

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-tooth disease, axonal, type 2DD

Criteria Provided
Multiple Submitters
No Conflicts

CA341771276

rs_2101052251

6 SubmittersRCV001732236 RCV001823305

NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg)

SNV
Germline

Chr20:10647093

Pathogenic

Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Single Submitter

CA408236658

rs_2122606362

2 SubmittersRCV001731244

NM_000214.3(JAG1):c.1948T>C (p.Ser650Pro)

SNV
Germline

Chr20:10646022

Pathogenic

Charcot-Marie-Tooth disease, axonal, Type 2HH

No Assertion Criteria Provided

CA408235766

rs_2122604480

1 SubmittersRCV001731245

NM_001376.5(DYNC1H1):c.962-4A>G

SNV
Germline

Chr14:101983015

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA616579786

rs_1160682080

2 SubmittersRCV001733510 RCV005094914

NM_002972.4(SBF1):c.5463C>G (p.Tyr1821Ter)

SNV
Germline

Chr22:50447442

Likely pathogenic

Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA412184537

rs_144773853

1 SubmittersRCV001733595 RCV004798921

NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)

SNV
Germline

Chr1:156115030

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Conflicting Classifications

CA342807643

rs_2102817550

3 SubmittersRCV001733771 RCV001861044 RCV003136132

NM_018972.4(GDAP1):c.37C>T (p.Pro13Ser)

SNV
Germline

Chr8:74350498

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Conflicting Classifications

CA371499040

rs_1240725448

2 SubmittersRCV001757906 RCV005432782

NM_007289.4(MME):c.1914+1G>A

SNV
Germline

Chr3:155168626

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Conflicting Classifications

CA86315749

rs_1003705057

4 SubmittersRCV001764767 RCV003388038

NM_001376.5(DYNC1H1):c.12259G>A (p.Ala4087Thr)

SNV
Germline

Chr14:102042272

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391040352

rs_1394701012

3 SubmittersRCV001758055 RCV003771922

NM_022489.4(INF2):c.1316C>T (p.Pro439Leu)

SNV
Germline

Chr14:104707583

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391216565

rs_1375222598

3 SubmittersRCV001758159 RCV003771923 RCV004040081

NM_001376.5(DYNC1H1):c.13279G>A (p.Val4427Ile)

SNV
Germline

Chr14:102048576

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA7354197

rs_573728571

4 SubmittersRCV001765135 RCV002538777 RCV004040099 RCV004794543

NM_001376.5(DYNC1H1):c.9479G>A (p.Arg3160Gln)

SNV
Germline

Chr14:102029549

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA266964100

rs_777423061

3 SubmittersRCV001765238 RCV003528321

NM_001376.5(DYNC1H1):c.3814C>T (p.Arg1272Cys)

SNV
Germline

Chr14:101999998

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391038043

rs_2141284990

2 SubmittersRCV001767280 RCV002538798

NM_001376.5(DYNC1H1):c.5578C>A (p.Gln1860Lys)

SNV
Germline

Chr14:102006032

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA266998457

rs_893299206

4 SubmittersRCV001763232 RCV002538833 RCV005419201

NM_020631.6(PLEKHG5):c.1393-10C>A

SNV
Germline

Chr1:6470894

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Conflicting Classifications

CA561521

rs_768925221

2 SubmittersRCV001763410 RCV001868416

NM_024577.4(SH3TC2):c.2323G>A (p.Gly775Ser)

SNV
Germline

Chr5:149027409

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499022

rs_559578990

3 SubmittersRCV001768710 RCV001882856 RCV006377383

NM_001376.5(DYNC1H1):c.3242C>T (p.Ala1081Val)

SNV
Germline

Chr14:101994758

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351973

rs_761186402

2 SubmittersRCV001768876 RCV006616531

NM_022489.4(INF2):c.3611C>T (p.Ser1204Leu)

SNV
Germline

Chr14:104714773

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373321

rs_376222605

2 SubmittersRCV001754983 RCV002539153

NM_001376.5(DYNC1H1):c.7586C>T (p.Ala2529Val)

SNV
Germline

Chr14:102016461

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352843

rs_746209887

3 SubmittersRCV001755064 RCV001885034

NM_001376.5(DYNC1H1):c.12678G>A (p.Thr4226=)

SNV
Germline

Chr14:102044039

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353989

rs_370256973

2 SubmittersRCV001763728 RCV001868566

NM_001376.5(DYNC1H1):c.2867A>G (p.Lys956Arg)

SNV
Germline

Chr14:101988851

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391029140

rs_2141276715

2 SubmittersRCV001771298 RCV002540530

NM_022489.4(INF2):c.1774G>A (p.Ala592Thr)

SNV
Germline

Chr14:104708474

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372669

rs_530285485

3 SubmittersRCV001774546 RCV002540593 RCV004988737

NM_001376.5(DYNC1H1):c.751C>A (p.Arg251Ser)

SNV
Germline

Chr14:101979951

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA391009071

rs_879253979

2 SubmittersRCV001774797 RCV002540608

NM_021625.5(TRPV4):c.1171C>T (p.Arg391Trp)

SNV
Germline

Chr12:109796686

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780316

rs_775385702

3 SubmittersRCV001755508 RCV003505184 RCV006392086

NM_001365951.3(KIF1B):c.1515-18T>G

SNV
Germline

Chr1:10292029

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA580998

rs_375149695

2 SubmittersRCV002034495 RCV003238026

NM_002047.4(GARS1):c.2064C>T (p.Asp688=)

SNV
Germline

Chr7:30632407

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA4206143

rs_528105619

2 SubmittersRCV001776964 RCV003772124

NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)

SNV
Germline

Chr5:162097683

Conflicting classifications of pathogenicity

Febrile seizures, familial, 8
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
Febrile seizures, familial, 8
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA362183875

rs_2113325423

6 SubmittersRCV001779368 RCV002541096 RCV004809672 RCV005626486

NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)

SNV
Germline

Chr17:42544051

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399605985

rs_2092930339

4 SubmittersRCV001784706 RCV001885164

NM_006096.4(NDRG1):c.327-1G>A

SNV
Germline

Chr8:133259231

Pathogenic

Charcot-Marie-Tooth disease type 4D

Criteria Provided
Single Submitter

CA372256124

rs_2130727581

1 SubmittersRCV001784718

NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter)

SNV
Germline

Chr11:9858271

Pathogenic

Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA379641374

rs_2134006623

2 SubmittersRCV001784935 RCV005095127

NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys)

SNV
Germline

Chr16:70268333

Pathogenic

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396564214

rs_2152160733

2 SubmittersRCV001806263 RCV002541169

NM_170707.4(LMNA):c.1342G>T (p.Glu448Ter)

SNV
Germline

Chr1:156136398

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342822109

rs_2102891243

2 SubmittersRCV001782390 RCV002541204

NM_001005373.4(LRSAM1):c.1641C>G (p.Tyr547Ter)

SNV
Germline

Chr9:127495361

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374935237

rs_2132110332

1 SubmittersRCV001782402

NM_001005373.4(LRSAM1):c.517C>T (p.Arg173Ter)

SNV
Germline

Chr9:127462362

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Multiple Submitters
No Conflicts

CA5246568

rs_746159728

2 SubmittersRCV001782403

NM_014874.4(MFN2):c.695C>G (p.Thr232Ser)

SNV
Unknown

Chr1:11998865

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA338438536

rs_1569842764

1 SubmittersRCV001785337

NM_002047.4(GARS1):c.1015G>A (p.Gly339Arg)

SNV
Germline

Chr7:30612229

Pathogenic/Likely pathogenic

Condition: not provided
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA367125563

rs_2128134030

3 SubmittersRCV001786273 RCV003314018 RCV005095142

NM_001376.5(DYNC1H1):c.12350A>G (p.Gln4117Arg)

SNV
Germline

Chr14:102042458

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353904

rs_377620179

2 SubmittersRCV001794852 RCV001885221

NM_001365088.1(SLC12A6):c.1655G>A (p.Gly552Asp)

SNV
Germline

Chr15:34245862

Pathogenic/Likely pathogenic

Condition: not provided
Peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Multiple Submitters
No Conflicts

CA391621320

rs_2140693876

4 SubmittersRCV001868896 RCV002255113 RCV004801051

NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)

SNV
Germline

Chr9:133352707

Pathogenic/Likely pathogenic

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA200832499

rs_782021521

4 SubmittersRCV001797902 RCV002246514 RCV002503285

NM_000166.6(GJB1):c.520C>G (p.Pro174Ala)

SNV
Unknown

ChrX:71224227

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413502943

rs_2147946493

1 SubmittersRCV001799555

NM_000214.3(JAG1):c.2113+1G>A

SNV
Germline

Chr20:10645355

Likely pathogenic

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Arteriohepatic dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA408235374

rs_1294950721

5 SubmittersRCV001799920 RCV003330100 RCV005038328 RCV005414339

NM_001376.5(DYNC1H1):c.11503A>G (p.Ile3835Val)

SNV
Germline

Chr14:102039454

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
not specified

Criteria Provided
Conflicting Classifications

CA7353630

rs_148513391

5 SubmittersRCV001800035 RCV001885239 RCV004040877 RCV005429065 RCV005419213

NM_001376.5(DYNC1H1):c.8176A>C (p.Arg2726=)

SNV
Germline

Chr14:102017503

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA488185042

rs_1285457241

4 SubmittersRCV001800063 RCV002425076 RCV002544375 RCV006269480

NM_002972.4(SBF1):c.142-3C>T

SNV
Germline

Chr22:50467926

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B3
Condition: not provided
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10318208

rs_191369963

4 SubmittersRCV001803483 RCV001869460 RCV005922567

NM_022489.4(INF2):c.1979G>A (p.Arg660Gln)

SNV
Germline

Chr14:104709310

Conflicting classifications of pathogenicity

Condition: not provided
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372771

rs_756754311

3 SubmittersRCV001811882 RCV001885247

NM_001376.5(DYNC1H1):c.7583C>G (p.Thr2528Ser)

SNV
Germline

Chr14:102016458

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391002452

rs_370219646

2 SubmittersRCV001806632 RCV003528337

NM_170707.4(LMNA):c.1584G>C (p.Thr528=)

SNV
Germline

Chr1:156137208

Conflicting classifications of pathogenicity

Cardiomyopathy
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421069173

rs_80356812

4 SubmittersRCV001805618 RCV002542409 RCV003130550 RCV004808133

NM_000263.4(NAGLU):c.384-3C>A

SNV
Germline

Chr17:42537395

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA626218545

rs_1216280532

4 SubmittersRCV001806383 RCV001869568 RCV003136165

NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)

SNV
Germline

Chr8:24956498

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA370624299

rs_2117256073

2 SubmittersRCV001808008

NM_020631.6(PLEKHG5):c.1132-2A>C

SNV
Germline

Chr1:6471639

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Multiple Submitters
No Conflicts

CA338130578

rs_1557742277

2 SubmittersRCV001808192

NM_000166.6(GJB1):c.190T>C (p.Cys64Arg)

SNV
Unknown

ChrX:71223897

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

rs_2147945432

1 SubmittersRCV006553811

NM_021076.4(NEFH):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr22:29480668

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2CC
Condition: not provided

Criteria Provided
Conflicting Classifications

CA411122790

rs_1359968264

2 SubmittersRCV001809237 RCV004770210

NM_170707.4(LMNA):c.1698+1G>A

SNV
Germline

Chr1:156137744

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342825918

rs_1553266337

4 SubmittersRCV001813872 RCV001885299 RCV004009160 RCV006550542

NM_001376.5(DYNC1H1):c.7981T>G (p.Leu2661Val)

SNV
Germline

Chr14:102017220

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352911

rs_367991209

2 SubmittersRCV001822283 RCV001869659

NM_001376.5(DYNC1H1):c.13413C>T (p.Ala4471=)

SNV
Germline

Chr14:102049480

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7354242

rs_776463183

2 SubmittersRCV001817148 RCV002074269

NM_001376.5(DYNC1H1):c.9975C>T (p.Cys3325=)

SNV
Germline

Chr14:102032363

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA487966887

rs_1274600876

2 SubmittersRCV001817470 RCV003772294

NM_170707.4(LMNA):c.810+2T>C

SNV
Germline

Chr1:156134977

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342817459

rs_2102882192

2 SubmittersRCV001817692 RCV002542701

NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)

SNV
Germline

Chr2:27312217

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346207433

rs_774833271

3 SubmittersRCV001825317 RCV002473304

NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro)

SNV
Germline

Chr11:68933839

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381649855

rs_2154008646

1 SubmittersRCV001837045

NM_018082.6(POLR3B):c.1087G>A (p.Glu363Lys)

SNV
Germline

Chr12:106410946

Likely pathogenic

Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Condition: not provided

Criteria Provided
Single Submitter

CA386387579

rs_2136937347

2 SubmittersRCV001837163 RCV004797955

NM_001376.5(DYNC1H1):c.11966G>A (p.Arg3989His)

SNV
Germline

Chr14:102041598

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353798

rs_377516509

2 SubmittersRCV001837666 RCV001869846

NM_002047.4(GARS1):c.1007C>A (p.Pro336His)

SNV
Germline

Chr7:30612221

Pathogenic

Charcot-Marie-Tooth disease type 2D

No Assertion Criteria Provided

CA367125545

rs_2128134025

1 SubmittersRCV001838853

NM_006329.4(FBLN5):c.986A>T (p.Asp329Val)

SNV
Germline

Chr14:91881295

Pathogenic

Charcot-Marie-Tooth disease, demyelinating, IIA 1H

No Assertion Criteria Provided

CA390641796

rs_1172268284

1 SubmittersRCV001843339

NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)

SNV
Germline

Chr15:44600505

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534883

rs_370282739

3 SubmittersRCV001848193 RCV001885409 RCV002468335 RCV002468336

NM_014874.4(MFN2):c.382C>A (p.His128Asn)

SNV
Germline

Chr1:11996226

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338434483

rs_2100822486

1 SubmittersRCV001962206

NM_001365951.3(KIF1B):c.3565A>G (p.Ile1189Val)

SNV
Germline

Chr1:10342101

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581812

rs_190481457

2 SubmittersRCV001997346 RCV004043900

NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter)

SNV
Germline

Chr17:42543576

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399604191

rs_2143111795

1 SubmittersRCV001913835

NM_001303256.3(MORC2):c.1822C>T (p.Arg608Cys)

SNV
Germline

Chr22:30935152

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10186827

rs_373963382

2 SubmittersRCV001887791 RCV002406929

NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly)

SNV
Germline

Chr6:109825140

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3956463

rs_533419433

2 SubmittersRCV001923177 RCV003434353

NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)

SNV
Germline

Chr8:24956254

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F

Criteria Provided
Conflicting Classifications

CA370623007

rs_2117255599

2 SubmittersRCV001943168 RCV002466713

NM_170707.4(LMNA):c.203A>T (p.Glu68Val)

SNV
Germline

Chr1:156115121

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808225

rs_2102818240

1 SubmittersRCV001919151

NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser)

SNV
Germline

Chr19:10777204

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9200854

rs_757892950

3 SubmittersRCV001966099 RCV003146415 RCV004044589

NM_001365951.3(KIF1B):c.2448G>C (p.Glu816Asp)

SNV
Germline

Chr1:10323973

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581527

rs_146335819

2 SubmittersRCV001870215 RCV004599266

NM_170707.4(LMNA):c.280T>C (p.Ser94Pro)

SNV
Germline

Chr1:156115198

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808593

rs_2102818745

1 SubmittersRCV001870422

NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)

SNV
Germline

Chr20:10639613

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764191

rs_758788135

4 SubmittersRCV001989225 RCV002479705 RCV003170463 RCV004553615

NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser)

SNV
Germline

Chr8:74360283

Likely pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371548911

rs_2131512957

1 SubmittersRCV002038765

NM_024577.4(SH3TC2):c.658G>A (p.Val220Met)

SNV
Germline

Chr5:149041489

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA361674415

rs_1428903431

2 SubmittersRCV002038921 RCV004671630

NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val)

SNV
Germline

Chr11:68936918

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153910

rs_779854653

4 SubmittersRCV002048122 RCV003134345 RCV005585076

NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)

SNV
Germline

Chr14:102042654

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Autism spectrum disorder
not specified

Criteria Provided
Conflicting Classifications

CA266979472

rs_770451110

4 SubmittersRCV001957279 RCV002466275 RCV003126001 RCV004587257

NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn)

SNV
Germline

Chr19:10830300

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA404044139

rs_1301279979

3 SubmittersRCV001948968 RCV002425288 RCV002473329

NM_001376.5(DYNC1H1):c.1396A>G (p.Met466Val)

SNV
Germline

Chr14:101983544

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391015886

rs_2141272574

1 SubmittersRCV002030799

NM_170707.4(LMNA):c.811-2A>G

SNV
Germline

Chr1:156135185

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA342817461

rs_2102883099

2 SubmittersRCV001959700 RCV005868503

NM_170707.4(LMNA):c.142C>G (p.Arg48Gly)

SNV
Germline

Chr1:156115060

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA050260

rs_769977710

1 SubmittersRCV001881619

NM_022489.4(INF2):c.2869G>A (p.Gly957Arg)

SNV
Germline

Chr14:104713300

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA267330084

rs_984879135

2 SubmittersRCV001937084

NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys)

SNV
Germline

Chr12:109793560

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA386651602

rs_387906902

3 SubmittersRCV002036853 RCV002398130 RCV003314720

NM_014874.4(MFN2):c.401T>A (p.Leu134Gln)

SNV
Germline

Chr1:11996245

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338434725

rs_2100822581

1 SubmittersRCV001904161

NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)

SNV
Germline

Chr20:10649600

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764924

rs_755648887

2 SubmittersRCV001864130 RCV002506897

NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)

SNV
Germline

Chr11:68929248

Pathogenic/Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381647502

rs_1178427226

2 SubmittersRCV001968794 RCV003147716

NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile)

SNV
Germline

Chr19:10830198

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA9201599

rs_763624831

3 SubmittersRCV004976118 RCV004999597 RCV002028377

NM_001365951.3(KIF1B):c.253G>T (p.Ala85Ser)

SNV
Germline

Chr1:10258562

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580657

rs_765957120

2 SubmittersRCV001904802 RCV004039731

NM_014874.4(MFN2):c.688G>A (p.Glu230Lys)

SNV
Germline

Chr1:11998858

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438469

rs_2100831900

1 SubmittersRCV001991177

NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala)

SNV
Germline

Chr20:10639848

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764227

rs_750032058

3 SubmittersRCV001872676 RCV002458692 RCV005397088

NM_001365951.3(KIF1B):c.3433C>T (p.Arg1145Cys)

SNV
Germline

Chr1:10339779

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA338340912

rs_1394199064

2 SubmittersRCV001917738 RCV004041705

NM_001376.5(DYNC1H1):c.11408C>T (p.Pro3803Leu)

SNV
Germline

Chr14:102039202

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA266974245

rs_571126286

2 SubmittersRCV001893825 RCV005438107

NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter)

SNV
Germline

Chr6:109791497

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365216555

rs_2128397285

1 SubmittersRCV001960579

NM_001365088.1(SLC12A6):c.2036A>G (p.Tyr679Cys)

SNV
Germline

Chr15:34243980

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Single Submitter

CA391620478

rs_2140682156

2 SubmittersRCV001939422 RCV002287901

NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter)

SNV
Germline

Chr1:6471093

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
PLEKHG5-related disorder
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Multiple Submitters
No Conflicts

CA338128481

rs_1443592761

3 SubmittersRCV001941748 RCV003418253 RCV004782834

NM_001370298.3(FGD4):c.1602+1G>C

SNV
Germline

Chr12:32610835

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA384360923

rs_2136763097

1 SubmittersRCV001994195

NM_014845.6(FIG4):c.1388+1G>A

SNV
Germline

Chr6:109762208

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA3956054

rs_754338522

1 SubmittersRCV002022313

NM_000166.6(GJB1):c.287C>G (p.Ala96Gly)

SNV
Germline

ChrX:71223994

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA330997722

rs_11551260

2 SubmittersRCV001863851 RCV003336450

NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu)

SNV
Germline

Chr12:109798819

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386654855

rs_387906905

1 SubmittersRCV002036118

NM_022489.4(INF2):c.2843A>C (p.Glu948Ala)

SNV
Germline

Chr14:104713274

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA391222764

rs_1473555311

2 SubmittersRCV001930535

NM_002437.5(MPV17):c.375+2T>C

SNV
Germline

Chr2:27312492

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA44518176

rs_1054997754

2 SubmittersRCV001972958 RCV003471215

NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter)

SNV
Germline

Chr11:62690687

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA380955978

rs_2134689565

1 SubmittersRCV001864691

NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu)

SNV
Germline

Chr14:102038566

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Intellectual disability, autosomal dominant 13

Criteria Provided
Multiple Submitters
No Conflicts

CA391031844

rs_2152594747

3 SubmittersRCV001894462 RCV002473311 RCV002287510

NM_001376.5(DYNC1H1):c.7942G>A (p.Val2648Met)

SNV
Germline

Chr14:102017181

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391003714

rs_1288886820

3 SubmittersRCV001960430 RCV004694034 RCV005331070

NM_001376.5(DYNC1H1):c.2161G>A (p.Glu721Lys)

SNV
Germline

Chr14:101986386

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
See cases

Criteria Provided
Conflicting Classifications

CA391021334

rs_2141274951

2 SubmittersRCV001877453 RCV003156141

NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter)

SNV
Germline

Chr20:10648014

Pathogenic

Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Single Submitter

CA408236819

rs_2122607723

2 SubmittersRCV001950790 RCV006442476

NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)

SNV
Germline

Chr8:74350474

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371498986

rs_2131493453

1 SubmittersRCV001970100

NM_014874.4(MFN2):c.820C>T (p.Arg274Trp)

SNV
Germline

Chr1:12001404

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA598948

rs_762440627

2 SubmittersRCV001970191 RCV005645337

NM_022489.4(INF2):c.2254C>T (p.Arg752Cys)

SNV
Germline

Chr14:104710951

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
not specified

Criteria Provided
Conflicting Classifications

CA267327835

rs_749405096

3 SubmittersRCV001905879 RCV005238037

NM_001376.5(DYNC1H1):c.3955G>A (p.Val1319Met)

SNV
Germline

Chr14:102000139

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA266993704

rs_370976687

2 SubmittersRCV002352718 RCV001992124

NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser)

SNV
Germline

Chr8:74351347

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

Criteria Provided
Conflicting Classifications

CA4785052

rs_769632836

3 SubmittersRCV001992187 RCV002290831 RCV005042662

NM_181882.3(PRX):c.184+2T>A

SNV
Germline

Chr19:40403704

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA405901696

rs_2079511684

1 SubmittersRCV002031444

NM_030962.4(SBF2):c.4571-1G>A

SNV
Germline

Chr11:9790684

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379635338

rs_2133861770

1 SubmittersRCV002049091

NM_001376.5(DYNC1H1):c.10182A>G (p.Lys3394=)

SNV
Germline

Chr14:102033167

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA266969163

rs_867202471

3 SubmittersRCV001921210 RCV003146352 RCV006458777

NM_001376.5(DYNC1H1):c.7286C>G (p.Ser2429Cys)

SNV
Germline

Chr14:102015899

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391001799

rs_1468721324

2 SubmittersRCV001987546 RCV003154050

NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)

SNV
Germline

Chr5:149006929

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361663980

rs_1248359114

2 SubmittersRCV001956024 RCV003388065

NM_170707.4(LMNA):c.593A>C (p.Gln198Pro)

SNV
Germline

Chr1:156134482

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342816991

rs_2102878915

1 SubmittersRCV001975882

NM_025137.4(SPG11):c.258-2A>C

SNV
Germline

Chr15:44660618

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535887

rs_781665076

3 SubmittersRCV002012964 RCV002458967 RCV005008389

NM_022489.4(INF2):c.2891C>G (p.Pro964Arg)

SNV
Germline

Chr14:104713457

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373125

rs_748286029

2 SubmittersRCV002013146

NM_170707.4(LMNA):c.422T>C (p.Leu141Pro)

SNV
Germline

Chr1:156130682

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815328

rs_2102865805

1 SubmittersRCV001905256

NM_170707.4(LMNA):c.266G>C (p.Arg89Pro)

SNV
Germline

Chr1:156115184

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA342808527

rs_59040894

2 SubmittersRCV001942368 RCV004785349

NM_001365951.3(KIF1B):c.5291C>T (p.Thr1764Ile)

SNV
Germline

Chr1:10375256

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA582313

rs_777106047

3 SubmittersRCV001964556 RCV004044007 RCV006266964

NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln)

SNV
Germline

Chr1:10365178

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Neuroblastoma, susceptibility to, 1
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA582080

rs_367778973

4 SubmittersRCV001940667 RCV004044011 RCV004785381 RCV005050461

NM_000263.4(NAGLU):c.925T>C (p.Tyr309His)

SNV
Germline

Chr17:42541110

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399600223

rs_2143099180

1 SubmittersRCV001970854

NM_000530.8(MPZ):c.156C>G (p.Phe52Leu)

SNV
Germline

Chr1:161307336

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343351115

rs_2102260015

1 SubmittersRCV001966876

NM_001376.5(DYNC1H1):c.7262C>T (p.Thr2421Met)

SNV
Germline

Chr14:102015875

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352783

rs_770803375

3 SubmittersRCV001966999 RCV002275317 RCV002386837

NM_001376.5(DYNC1H1):c.13111G>A (p.Asp4371Asn)

SNV
Germline

Chr14:102047921

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354147

rs_778370920

2 SubmittersRCV001893057 RCV004616840

NM_001122955.4(BSCL2):c.405-11A>G

SNV
Germline

Chr11:62702560

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Berardinelli-Seip congenital lipodystrophy

Criteria Provided
Conflicting Classifications

CA599561054

rs_1434874435

4 SubmittersRCV001952313 RCV003314709 RCV003312023

NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn)

SNV
Germline

Chr1:156136033

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342820311

rs_267607567

3 SubmittersRCV001908860 RCV002407031 RCV004719194

NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys)

SNV
Germline

Chr14:104714682

Conflicting classifications of pathogenicity

Inborn genetic diseases
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373290

rs_755527335

3 SubmittersRCV002458936 RCV002030339

NM_170707.4(LMNA):c.936G>A (p.Gln312=)

SNV
Germline

Chr1:156135312

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA421068710

rs_2102884287

2 SubmittersRCV002047096 RCV006280707

NM_014874.4(MFN2):c.262A>C (p.Ile88Leu)

SNV
Germline

Chr1:11992641

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338462066

rs_1569816194

1 SubmittersRCV001973372

NM_001376.5(DYNC1H1):c.6029C>T (p.Pro2010Leu)

SNV
Germline

Chr14:102009894

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7352543

rs_747348966

3 SubmittersRCV002035604 RCV002642064 RCV004699629

NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr)

SNV
Germline

Chr1:12002013

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338442761

rs_2100841033

1 SubmittersRCV002050445

NM_001376.5(DYNC1H1):c.13408C>T (p.Pro4470Ser)

SNV
Germline

Chr14:102049475

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354241

rs_150906249

3 SubmittersRCV001934734 RCV003482378 RCV002550291

NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)

SNV
Germline

Chr20:10672772

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA311357318

rs_909905245

4 SubmittersRCV001992501 RCV002324391 RCV002479548

NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly)

SNV
Germline

Chr20:10639650

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764200

rs_368162343

3 SubmittersRCV001982731 RCV005025481 RCV005652814

NM_001005361.3(DNM2):c.2176T>C (p.Tyr726His)

SNV
Germline

Chr19:10829153

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201541

rs_370459176

4 SubmittersRCV002005084 RCV002571343 RCV003146428

NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)

SNV
Germline

Chr1:156114929

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
11 conditions

Criteria Provided
Conflicting Classifications

CA342805937

rs_267607620

3 SubmittersRCV002010787 RCV004990559 RCV005050511

NM_001376.5(DYNC1H1):c.391G>A (p.Val131Met)

SNV
Germline

Chr14:101979365

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391007400

rs_1488184652

2 SubmittersRCV001944457 RCV005232688

NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg)

SNV
Germline

Chr17:42543688

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399604461

rs_2092928624

1 SubmittersRCV002022742

NM_001365951.3(KIF1B):c.2586G>A (p.Met862Ile)

SNV
Germline

Chr1:10324806

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA581561

rs_199818954

3 SubmittersRCV001932521 RCV003312015 RCV004040401

NM_001376.5(DYNC1H1):c.7917C>T (p.Cys2639=)

SNV
Germline

Chr14:102017156

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352905

rs_778369655

3 SubmittersRCV001942678 RCV002222735 RCV002422919

NM_001376.5(DYNC1H1):c.8326T>A (p.Phe2776Ile)

SNV
Germline

Chr14:102018599

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352993

rs_748320904

2 SubmittersRCV002011967 RCV003442974

NM_022489.4(INF2):c.2390G>A (p.Arg797His)

SNV
Germline

Chr14:104711158

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372899

rs_200261709

2 SubmittersRCV001973799 RCV002458918

NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)

SNV
Germline

Chr20:10641144

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
See cases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9764323

rs_747142039

4 SubmittersRCV001981850 RCV002484630 RCV004584452 RCV005428446

NM_000304.4(PMP22):c.78+1G>C

SNV
Germline

Chr17:15260649

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398271647

rs_1426969421

1 SubmittersRCV001958923

NM_001376.5(DYNC1H1):c.8178G>A (p.Arg2726=)

SNV
Germline

Chr14:102018451

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352969

rs_777685040

2 SubmittersRCV002023509 RCV002425427

NM_006096.4(NDRG1):c.205+1G>T

SNV
Germline

Chr8:133264546

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372256421

rs_1060503092

1 SubmittersRCV001883545

NM_170707.4(LMNA):c.674G>T (p.Arg225Leu)

SNV
Germline

Chr1:156134839

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817174

rs_199474724

1 SubmittersRCV001942505

NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter)

SNV
Germline

Chr6:109776933

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365229912

rs_2128394568

1 SubmittersRCV001987823

NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala)

SNV
Germline

Chr17:42543283

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA8576990

rs_771151036

1 SubmittersRCV002005475

NM_001365951.3(KIF1B):c.3134A>G (p.Asp1045Gly)

SNV
Germline

Chr1:10337078

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581721

rs_775328436

2 SubmittersRCV001973437 RCV004042263

NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His)

SNV
Germline

Chr14:102019939

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391006534

rs_2152584603

3 SubmittersRCV001884959 RCV002246580 RCV006251073

NM_000399.5(EGR2):c.1075C>G (p.Arg359Gly)

SNV
Germline

Chr10:62813563

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease type 1D

Criteria Provided
Conflicting Classifications

CA377027842

rs_104894161

2 SubmittersRCV001919601 RCV004785387

NM_000530.8(MPZ):c.571C>T (p.Gln191Ter)

SNV
Germline

Chr1:161306342

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343345327

rs_2102257979

1 SubmittersRCV001989844

NM_002764.4(PRPS1):c.383A>T (p.Asp128Val)

SNV
Germline

ChrX:107640978

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked recessive 5
Condition: not provided
Retinal dystrophy
Arts syndrome

Criteria Provided
Conflicting Classifications

CA413807347

rs_2147682409

5 SubmittersRCV001971564 RCV003224602 RCV003225212 RCV004816864 RCV004763282

NM_001376.5(DYNC1H1):c.10694G>A (p.Ser3565Asn)

SNV
Germline

Chr14:102034392

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353463

rs_547814062

3 SubmittersRCV001971568 RCV003146438 RCV004042340

NM_001303256.3(MORC2):c.1280A>G (p.Lys427Arg)

SNV
Germline

Chr22:30937904

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy

Criteria Provided
Conflicting Classifications

CA411238890

rs_2147256585

2 SubmittersRCV002018745 RCV005053990

NM_024577.4(SH3TC2):c.1853A>G (p.Tyr618Cys)

SNV
Germline

Chr5:149027879

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499106

rs_772780166

2 SubmittersRCV001920108 RCV002407023

NM_022489.4(INF2):c.1097A>G (p.Gln366Arg)

SNV
Germline

Chr14:104707364

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372506

rs_747903915

2 SubmittersRCV001954940 RCV002458821

NM_030973.4(MED25):c.2146+17G>T

SNV
Germline

Chr19:49836423

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9585490

rs_561588731

2 SubmittersRCV001927444 RCV004693895

NM_001370298.3(FGD4):c.2455-5T>G

SNV
Germline

Chr12:32640271

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6507106

rs_749267223

2 SubmittersRCV001919488 RCV002423061

NM_022489.4(INF2):c.2150G>A (p.Arg717Gln)

SNV
Germline

Chr14:104710099

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372849

rs_769493931

2 SubmittersRCV001978158 RCV003130663

NM_022489.4(INF2):c.1286T>C (p.Leu429Pro)

SNV
Germline

Chr14:104707553

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7372550

rs_755557218

3 SubmittersRCV002041142 RCV005241487

NM_001376.5(DYNC1H1):c.12687C>T (p.Gly4229=)

SNV
Germline

Chr14:102044276

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA266980974

rs_994411940

2 SubmittersRCV001984900 RCV005006263

NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)

SNV
Germline

Chr14:104708492

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7372675

rs_368948089

4 SubmittersRCV001884639 RCV003339795 RCV006271799

NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys)

SNV
Germline

Chr1:10324862

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Multiple endocrine neoplasia type 2A
not specified

Criteria Provided
Conflicting Classifications

CA581573

rs_755850268

3 SubmittersRCV001943820 RCV003233037 RCV004044110

NM_001376.5(DYNC1H1):c.13327A>C (p.Lys4443Gln)

SNV
Germline

Chr14:102048624

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354208

rs_753794752

2 SubmittersRCV001926498 RCV004044190

NM_181882.3(PRX):c.2050C>T (p.Gln684Ter)

SNV
Germline

Chr19:40396302

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA405897111

rs_1252279085

1 SubmittersRCV001928690

NM_001540.5(HSPB1):c.321C>A (p.Asp107Glu)

SNV
Germline

Chr7:76303033

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA367763504

rs_1433396777

2 SubmittersRCV002014692 RCV002563586

NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter)

SNV
Germline

Chr2:27312217

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA44517777

rs_774833271

3 SubmittersRCV002007377 RCV003471121 RCV005025513

NM_000214.3(JAG1):c.3098A>G (p.Asp1033Gly)

SNV
Germline

Chr20:10640884

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764280

rs_748220102

2 SubmittersRCV001915145 RCV005038465

NM_000304.4(PMP22):c.215C>A (p.Ser72Ter)

SNV
Germline

Chr17:15239575

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398268233

rs_104894621

1 SubmittersRCV002000141

NM_021625.5(TRPV4):c.1849T>C (p.Phe617Leu)

SNV
Germline

Chr12:109792405

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386651803

rs_2136466291

1 SubmittersRCV002002352

NM_001365951.3(KIF1B):c.4367-5C>T

SNV
Germline

Chr1:10365095

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA2573130679

rs_2102349814

2 SubmittersRCV002037904 RCV004044358

NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter)

SNV
Germline

Chr11:68906193

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
IGHMBP2-related disorder

Criteria Provided
Single Submitter

CA6153214

rs_773543257

2 SubmittersRCV002035238 RCV004741165

NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe)

SNV
Germline

Chr19:10829246

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201561

rs_375820696

2 SubmittersRCV001864332 RCV003146286

NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys)

SNV
Germline

Chr1:6469603

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA561328

rs_765998625

4 SubmittersRCV001912820 RCV002407024 RCV003232455

NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter)

SNV
Germline

Chr1:12006610

Pathogenic

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA338448736

rs_2100856157

2 SubmittersRCV001999958 RCV002398008

NM_002437.5(MPV17):c.71-1G>T

SNV
Germline

Chr2:27313110

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA1575675

rs_751134093

2 SubmittersRCV002022070 RCV003471224

NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val)

SNV
Germline

Chr14:102002591

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA7352271

rs_775825001

3 SubmittersRCV001993950 RCV002335008 RCV002492223

NM_001005361.3(DNM2):c.2309G>A (p.Arg770Gln)

SNV
Germline

Chr19:10830144

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201587

rs_768817257

2 SubmittersRCV001946563 RCV002442907

NM_170707.4(LMNA):c.125T>C (p.Leu42Ser)

SNV
Germline

Chr1:156115043

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807769

rs_2102817644

1 SubmittersRCV001976882

NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg)

SNV
Germline

Chr17:42543324

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
not specified

Criteria Provided
Conflicting Classifications

CA399601862

rs_2143109259

2 SubmittersRCV001976885 RCV004801120

NM_001365951.3(KIF1B):c.2716G>A (p.Asp906Asn)

SNV
Germline

Chr1:10326151

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA581596

rs_758389718

3 SubmittersRCV001896623 RCV004041735 RCV004691464

NM_021076.4(NEFH):c.1684C>G (p.Pro562Ala)

SNV
Germline

Chr22:29489324

Conflicting classifications of pathogenicity

Condition: not provided
Peripheral neuropathy
Charcot-Marie-Tooth disease axonal type 2CC
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

CA10174261

rs_530872313

4 SubmittersRCV001911340 RCV002291508 RCV005397129

NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter)

SNV
Germline

Chr6:109762146

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365226197

rs_2128391439

1 SubmittersRCV001945996

NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter)

SNV
Germline

Chr17:42538414

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399598523

rs_1279412522

3 SubmittersRCV001939506 RCV005235619

NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn)

SNV
Germline

Chr17:42537432

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598057

rs_2092909557

1 SubmittersRCV002025052

NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln)

SNV
Germline

Chr5:149026590

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498871

rs_140666774

2 SubmittersRCV002025071 RCV004042473

NM_001370298.3(FGD4):c.1404+2T>A

SNV
Germline

Chr12:32602319

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA384359105

rs_1948478259

1 SubmittersRCV002011371

NM_024577.4(SH3TC2):c.3205-2A>G

SNV
Germline

Chr5:149010394

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361665035

rs_2127392891

1 SubmittersRCV002031001

NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter)

SNV
Germline

Chr5:149027521

Pathogenic

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA361666842

rs_1318388071

2 SubmittersRCV001870086 RCV002425118

NM_018972.4(GDAP1):c.445G>C (p.Asp149His)

SNV
Germline

Chr8:74360271

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA371548883

rs_1443963090

2 SubmittersRCV002013422 RCV003107940

NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu)

SNV
Germline

Chr17:42536616

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399596203

rs_1379877908

1 SubmittersRCV001893693

NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala)

SNV
Germline

Chr11:68933853

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381649945

rs_2154008651

1 SubmittersRCV001929258

NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter)

SNV
Germline

Chr1:156115053

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807859

rs_2102817698

1 SubmittersRCV002002508

NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr5:149027649

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361667117

rs_770170997

1 SubmittersRCV001994884

NM_181882.3(PRX):c.3505C>T (p.Gln1169Ter)

SNV
Germline

Chr19:40394847

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA9443844

rs_767591489

1 SubmittersRCV002016456

NM_022489.4(INF2):c.2788C>G (p.Arg930Gly)

SNV
Germline

Chr14:104713219

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391222640

rs_764687744

3 SubmittersRCV002040587 RCV003992604

NM_002437.5(MPV17):c.263A>T (p.Lys88Met)

SNV
Germline

Chr2:27312696

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Conflicting Classifications

CA1575615

rs_756530281

5 SubmittersRCV002037482 RCV004546675 RCV006442454

NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser)

SNV
Germline

Chr17:42541126

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA399600257

rs_1181487342

2 SubmittersRCV004690144 RCV002037580

NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter)

SNV
Germline

Chr17:42537455

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399598112

rs_2143082104

1 SubmittersRCV001967204

NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)

SNV
Germline

Chr11:68914901

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified

Criteria Provided
Conflicting Classifications

CA6153395

rs_139497493

2 SubmittersRCV001972476 RCV003331249

NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys)

SNV
Germline

Chr12:109792696

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA243500142

rs_868185064

2 SubmittersRCV002005612 RCV005095507

NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu)

SNV
Germline

Chr17:42541060

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399600115

rs_1209988199

1 SubmittersRCV002043424

NM_022489.4(INF2):c.685G>A (p.Val229Ile)

SNV
Germline

Chr14:104703933

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372388

rs_752058170

3 SubmittersRCV001967125 RCV002560619

NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter)

SNV
Germline

Chr17:42536580

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399596035

rs_2092906864

1 SubmittersRCV001951137

NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro)

SNV
Germline

Chr12:109803008

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386655999

rs_769107613

1 SubmittersRCV001986871

NM_022489.4(INF2):c.3509G>A (p.Gly1170Glu)

SNV
Germline

Chr14:104714671

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
INF2-related disorder

Criteria Provided
Conflicting Classifications

CA7373281

rs_776092624

2 SubmittersRCV001967634 RCV003401935

NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=)

SNV
Germline

Chr11:68933795

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153642

rs_750407517

2 SubmittersRCV001950425 RCV002388903

NM_170707.4(LMNA):c.1115A>G (p.Glu372Gly)

SNV
Germline

Chr1:156136079

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820499

rs_2102888292

1 SubmittersRCV001968762

NM_000263.4(NAGLU):c.940T>G (p.Phe314Val)

SNV
Germline

Chr17:42541125

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399600255

rs_104894600

1 SubmittersRCV002015294

NM_014874.4(MFN2):c.285G>T (p.Arg95Ser)

SNV
Germline

Chr1:11992664

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338462188

rs_1553141686

1 SubmittersRCV001946636

NM_000214.3(JAG1):c.425G>A (p.Ser142Asn)

SNV
Germline

Chr20:10663977

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA408242104

rs_1436395839

2 SubmittersRCV002043128 RCV005025642

NM_006096.4(NDRG1):c.63+1G>A

SNV
Germline

Chr8:133284248

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372248722

rs_1320417829

1 SubmittersRCV002050614

NM_001376.5(DYNC1H1):c.6704G>A (p.Arg2235His)

SNV
Germline

Chr14:102011960

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352669

rs_765956720

3 SubmittersRCV001925493 RCV003289206 RCV005642662

NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter)

SNV
Germline

Chr9:127502816

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374938757

rs_961918637

2 SubmittersRCV001956267

NM_021625.5(TRPV4):c.1799G>A (p.Gly600Glu)

SNV
Germline

Chr12:109792677

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386652108

rs_2136468103

1 SubmittersRCV001972848

NM_000304.4(PMP22):c.319+1G>T

SNV
Germline

Chr17:15239470

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398267376

rs_1597607514

1 SubmittersRCV001956349

NM_000263.4(NAGLU):c.532-1G>A

SNV
Germline

Chr17:42538338

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598325

rs_2143086378

1 SubmittersRCV002001268

NM_024577.4(SH3TC2):c.385+1G>T

SNV
Germline

Chr5:149044532

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361676444

rs_2127401413

1 SubmittersRCV002018432

NM_020631.6(PLEKHG5):c.784G>A (p.Ala262Thr)

SNV
Germline

Chr1:6473262

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA561756

rs_550362834

2 SubmittersRCV001908952 RCV005397133

NM_170707.4(LMNA):c.43C>T (p.Gln15Ter)

SNV
Germline

Chr1:156114961

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342806990

rs_2102817088

1 SubmittersRCV001949326

NM_170707.4(LMNA):c.128C>A (p.Ala43Glu)

SNV
Germline

Chr1:156115046

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807802

rs_2102817667

1 SubmittersRCV001956044

NM_170707.4(LMNA):c.1542G>A (p.Trp514Ter)

SNV
Germline

Chr1:156137166

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342823253

rs_2102895466

2 SubmittersRCV001949332 RCV004990502

NM_030962.4(SBF2):c.4054A>G (p.Ser1352Gly)

SNV
Germline

Chr11:9812633

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5881072

rs_201951073

3 SubmittersRCV001972724 RCV002324406 RCV006437109

NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp)

SNV
Germline

Chr8:74364218

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA179735451

rs_538389475

1 SubmittersRCV001949385

NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter)

SNV
Germline

Chr12:32601311

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA384358067

rs_1948408994

1 SubmittersRCV001956214

NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)

SNV
Germline

Chr20:10640873

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764278

rs_768823146

2 SubmittersRCV002026088 RCV002486707

NM_001376.5(DYNC1H1):c.4699C>T (p.Arg1567Trp)

SNV
Germline

Chr14:102002693

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder

Criteria Provided
Single Submitter

CA391043311

rs_377013246

2 SubmittersRCV002018409 RCV003911154

NM_000304.4(PMP22):c.68C>A (p.Thr23Lys)

SNV
Germline

Chr17:15260660

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA288109904

rs_906563423

2 SubmittersRCV002039305 RCV005409841

NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly)

SNV
Germline

Chr1:10324792

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581560

rs_779626536

3 SubmittersRCV001889893 RCV003323940

NM_001303256.3(MORC2):c.1270A>G (p.Thr424Ala)

SNV
Germline

Chr22:30937914

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411238937

rs_2147256596

3 SubmittersRCV001932939 RCV005054387 RCV006266957

NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter)

SNV
Germline

Chr12:32625690

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA235236173

rs_899737461

1 SubmittersRCV001897003

NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter)

SNV
Germline

Chr5:149041527

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361674611

rs_1754371447

2 SubmittersRCV001972611 RCV005868494

NM_006096.4(NDRG1):c.808-2A>G

SNV
Germline

Chr8:133246665

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372255017

rs_112360093

1 SubmittersRCV002022983

NM_001005373.4(LRSAM1):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr9:127461203

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374967871

rs_2132010730

1 SubmittersRCV002045651

NM_014874.4(MFN2):c.495T>A (p.His165Gln)

SNV
Germline

Chr1:11997317

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338436262

rs_1569834720

1 SubmittersRCV002023039

NM_001376.5(DYNC1H1):c.1260T>G (p.Phe420Leu)

SNV
Germline

Chr14:101983408

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391014797

rs_1367292809

2 SubmittersRCV001898941 RCV002441006

NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter)

SNV
Germline

Chr17:42537539

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399598301

rs_2143082538

1 SubmittersRCV001944084

NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)

SNV
Germline

Chr20:10649541

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764916

rs_547676061

2 SubmittersRCV002008937 RCV002497970

NM_022489.4(INF2):c.2239+16C>T

SNV
Germline

Chr14:104710204

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7372863

rs_370364755

2 SubmittersRCV002048381

NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter)

SNV
Germline

Chr6:109743731

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365222398

rs_2128387076

1 SubmittersRCV001963081

NM_001376.5(DYNC1H1):c.2156C>T (p.Thr719Ile)

SNV
Germline

Chr14:101986381

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7351777

rs_775702816

2 SubmittersRCV001981532 RCV002562874

NM_001005373.4(LRSAM1):c.903+1G>T

SNV
Germline

Chr9:127479506

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374931349

rs_1272943113

1 SubmittersRCV001966683

NM_001376.5(DYNC1H1):c.13204G>A (p.Val4402Met)

SNV
Germline

Chr14:102048014

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266985347

rs_977186240

2 SubmittersRCV001902176 RCV002386620

NM_000214.3(JAG1):c.2307C>T (p.Val769=)

SNV
Germline

Chr20:10644900

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA311345329

rs_1009422076

3 SubmittersRCV001910914 RCV005023382 RCV004741129

NM_001005361.3(DNM2):c.2278G>A (p.Ala760Thr)

SNV
Germline

Chr19:10829255

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9201564

rs_779315825

2 SubmittersRCV001930990 RCV002449593

NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr)

SNV
Germline

Chr17:42543310

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA8576993

rs_764815033

2 SubmittersRCV001985079 RCV003319997

NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter)

SNV
Germline

Chr12:32624429

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H

Criteria Provided
Multiple Submitters
No Conflicts

CA384365957

rs_2136932206

2 SubmittersRCV001985156 RCV005397189

NM_000263.4(NAGLU):c.3G>A (p.Met1Ile)

SNV
Germline

Chr17:42536275

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399594823

rs_2143074939

1 SubmittersRCV001975040

NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp)

SNV
Germline

Chr1:11989313

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338459932

rs_2100802936

3 SubmittersRCV002030623 RCV005374986 RCV005057884

NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe)

SNV
Germline

Chr17:42541111

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399600228

rs_1305299665

1 SubmittersRCV002018528

NM_181882.3(PRX):c.3502C>T (p.Gln1168Ter)

SNV
Germline

Chr19:40394850

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA405893432

rs_2145726269

1 SubmittersRCV002026469

NM_001303256.3(MORC2):c.2072T>C (p.Leu691Pro)

SNV
Germline

Chr22:30934902

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
not specified

Criteria Provided
Conflicting Classifications

CA10186775

rs_142307145

2 SubmittersRCV002051375 RCV006448775

NM_001376.5(DYNC1H1):c.9496G>A (p.Gly3166Ser)

SNV
Germline

Chr14:102029566

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391015271

rs_1393341368

2 SubmittersRCV001881179 RCV002370428

NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter)

SNV
Germline

Chr17:42537401

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399597902

rs_1453761645

1 SubmittersRCV001906752

NM_001376.5(DYNC1H1):c.12521A>G (p.Asn4174Ser)

SNV
Germline

Chr14:102043882

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353967

rs_772206416

2 SubmittersRCV001960021 RCV006357115

NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)

SNV
Germline

Chr20:10641618

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
not specified

Criteria Provided
Conflicting Classifications

CA408245035

rs_1252730791

3 SubmittersRCV001984616 RCV002492002 RCV006458794

NM_181882.3(PRX):c.2642G>A (p.Arg881Gln)

SNV
Germline

Chr19:40395710

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444011

rs_570264094

3 SubmittersRCV001983396 RCV004956001 RCV005629960

NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser)

SNV
Germline

Chr17:42543816

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
not specified

Criteria Provided
Conflicting Classifications

CA399604948

rs_1347224658

2 SubmittersRCV001978320 RCV004526169

NM_001365951.3(KIF1B):c.3131G>A (p.Ser1044Asn)

SNV
Germline

Chr1:10337075

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA581720

rs_769602520

3 SubmittersRCV001980653 RCV003408052 RCV004045297

NM_024577.4(SH3TC2):c.44G>A (p.Arg15Gln)

SNV
Germline

Chr5:149062979

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499695

rs_758276468

2 SubmittersRCV002001540 RCV005483063

NM_181882.3(PRX):c.381+6C>T

SNV
Germline

Chr19:40398614

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444493

rs_778983888

2 SubmittersRCV002001566 RCV006442488

NM_024577.4(SH3TC2):c.3478+2T>G

SNV
Germline

Chr5:149008849

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361664439

rs_2127392445

1 SubmittersRCV002026780

NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter)

SNV
Germline

Chr8:74361943

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA179735212

rs_779894269

1 SubmittersRCV001930237

NM_001376.5(DYNC1H1):c.8291C>T (p.Thr2764Met)

SNV
Germline

Chr14:102018564

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352989

rs_781036111

2 SubmittersRCV001974706 RCV005865528

NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)

SNV
Germline

Chr20:10639677

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764204

rs_755047447

4 SubmittersRCV001977312 RCV002497926 RCV003481232 RCV005585040

NM_024577.4(SH3TC2):c.197T>C (p.Val66Ala)

SNV
Germline

Chr5:149047944

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA361679229

rs_1485527369

2 SubmittersRCV001937614 RCV003289139

NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro)

SNV
Germline

Chr17:42543688

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399604459

rs_2092928624

1 SubmittersRCV001914104

NM_001376.5(DYNC1H1):c.11795C>T (p.Ala3932Val)

SNV
Germline

Chr14:102040340

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353720

rs_752716582

3 SubmittersRCV001979885 RCV003264328 RCV004809710

NM_014845.6(FIG4):c.2460-2A>G

SNV
Germline

Chr6:109796763

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365219809

rs_1458183004

1 SubmittersRCV001973598

NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro)

SNV
Germline

Chr17:42543148

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA399601213

rs_2143108019

2 SubmittersRCV002011022 RCV004784034

NM_001376.5(DYNC1H1):c.6847G>A (p.Val2283Met)

SNV
Germline

Chr14:102012103

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352678

rs_374569905

3 SubmittersRCV001886324 RCV002473315

NM_001365951.3(KIF1B):c.1943C>A (p.Pro648His)

SNV
Germline

Chr1:10296978

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581130

rs_771169398

2 SubmittersRCV001918539 RCV004042749

NM_170707.4(LMNA):c.334G>T (p.Glu112Ter)

SNV
Germline

Chr1:156115252

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808861

rs_1553262031

1 SubmittersRCV001962574

NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)

SNV
Germline

Chr8:74351352

Likely pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA4785053

rs_773136934

1 SubmittersRCV002010064

NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg)

SNV
Germline

Chr14:104714535

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373234

rs_775116734

2 SubmittersRCV002043497

NM_022489.4(INF2):c.470G>A (p.Gly157Asp)

SNV
Germline

Chr14:104703183

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Single Submitter

CA391212959

rs_2140647207

1 SubmittersRCV002024011

NM_004373.4(COX6A1):c.160A>G (p.Met54Val)

SNV
Germline

Chr12:120438435

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease recessive intermediate D
not specified

Criteria Provided
Conflicting Classifications

CA6828019

rs_61739965

6 SubmittersRCV001916495 RCV003333190 RCV004043294

NM_001365951.3(KIF1B):c.3045G>A (p.Ala1015=)

SNV
Germline

Chr1:10336658

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581698

rs_772919031

2 SubmittersRCV001940152 RCV004043298

NM_020631.6(PLEKHG5):c.1132-1G>T

SNV
Germline

Chr1:6471638

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338130539

rs_2148585199

1 SubmittersRCV001983871

NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)

SNV
Germline

Chr1:156115162

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
11 conditions
not specified

Criteria Provided
Conflicting Classifications

CA342808417

rs_59270054

3 SubmittersRCV002041238 RCV002498066 RCV003994380

NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter)

SNV
Germline

Chr6:109766833

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365228684

rs_2128392620

1 SubmittersRCV001888003

NM_001365951.3(KIF1B):c.2818G>A (p.Val940Met)

SNV
Germline

Chr1:10326253

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581617

rs_764144206

2 SubmittersRCV001876468 RCV004039018

NM_006158.5(NEFL):c.795C>G (p.Tyr265Ter)

SNV
Germline

Chr8:24955721

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

CA370621614

rs_2117254540

1 SubmittersRCV001948781

NM_022489.4(INF2):c.839A>G (p.His280Arg)

SNV
Germline

Chr14:104706172

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7372431

rs_759115381

3 SubmittersRCV001963592 RCV002441116

NM_021625.5(TRPV4):c.2480C>A (p.Pro827His)

SNV
Germline

Chr12:109783757

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C
TRPV4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA386648625

rs_2136413100

2 SubmittersRCV001983529 RCV004553613

NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe)

SNV
Germline

Chr17:42536375

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
not specified

Criteria Provided
Conflicting Classifications

CA399595314

rs_2143075651

2 SubmittersRCV001978497 RCV004770352

NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg)

SNV
Germline

Chr14:104714223

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373170

rs_762689516

3 SubmittersRCV002027066 RCV002443062

NM_001376.5(DYNC1H1):c.257-6T>A

SNV
Germline

Chr14:101975706

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573150594

rs_2141266656

3 SubmittersRCV002027242 RCV004017891 RCV005428457

NM_001376.5(DYNC1H1):c.9263+3A>G

SNV
Germline

Chr14:102027836

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353183

rs_751390841

3 SubmittersRCV002038548 RCV002443067 RCV004809734

NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys)

SNV
Germline

Chr20:10647978

Conflicting classifications of pathogenicity

Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764791

rs_748384232

3 SubmittersRCV005025668 RCV004046973 RCV002038551

NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp)

SNV
Germline

Chr11:68917775

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6153461

rs_768231851

2 SubmittersRCV002170677 RCV002372847

NM_170707.4(LMNA):c.379C>T (p.Leu127=)

SNV
Germline

Chr1:156130639

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421068214

rs_1428192739

2 SubmittersRCV002139919 RCV003533135

NM_170707.4(LMNA):c.1236G>A (p.Gly412=)

SNV
Germline

Chr1:156136292

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421258013

rs_763537103

2 SubmittersRCV002091664 RCV006553048

NM_021625.5(TRPV4):c.1333-5C>T

SNV
Germline

Chr12:109794492

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780267

rs_761542549

2 SubmittersRCV002128460 RCV002382423

NM_002180.3(IGHMBP2):c.1235+7C>T

SNV
Germline

Chr11:68929364

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6153550

rs_776813722

2 SubmittersRCV002160197 RCV002222272

NM_001365951.3(KIF1B):c.4526G>A (p.Arg1509His)

SNV
Germline

Chr1:10365422

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA582114

rs_201477179

2 SubmittersRCV002120076 RCV004046299

NM_001303256.3(MORC2):c.598A>G (p.Ile200Val)

SNV
Germline

Chr22:30941991

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10187205

rs_765371898

2 SubmittersRCV002136071 RCV003130691

NM_001122955.4(BSCL2):c.864-6C>T

SNV
Germline

Chr11:62691427

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA938683662

rs_1945308147

2 SubmittersRCV002083606 RCV002361488

NM_170707.4(LMNA):c.937-6C>A

SNV
Germline

Chr1:156135895

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31012909

rs_759083379

2 SubmittersRCV002162381 RCV004011195

NM_020631.6(PLEKHG5):c.796-4C>T

SNV
Germline

Chr1:6473178

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA737853028

rs_1315270235

2 SubmittersRCV002195338 RCV002423323

NM_001376.5(DYNC1H1):c.4635C>T (p.Val1545=)

SNV
Germline

Chr14:102002629

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA487969334

rs_1416911485

3 SubmittersRCV002112593 RCV003146514

NM_001122955.4(BSCL2):c.631-6C>G

SNV
Germline

Chr11:62692803

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2573147375

rs_768294248

2 SubmittersRCV002131746 RCV002331806

NM_005391.5(PDK3):c.671A>G (p.Asn224Ser)

SNV
Germline

ChrX:24519008

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 6
not specified

Criteria Provided
Conflicting Classifications

CA10372321

rs_200598034

2 SubmittersRCV002132416 RCV004046318

NM_000304.4(PMP22):c.79-16A>C

SNV
Germline

Chr17:15259209

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8403440

rs_373417110

2 SubmittersRCV002136971 RCV002473353

NM_001365951.3(KIF1B):c.1515-5C>T

SNV
Germline

Chr1:10292042

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA581002

rs_776534234

3 SubmittersRCV002212582 RCV003911285 RCV004045611

NM_024577.4(SH3TC2):c.302G>A (p.Ser101Asn)

SNV
Germline

Chr5:149044616

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499544

rs_199603042

2 SubmittersRCV002089497 RCV004656854

NM_001122955.4(BSCL2):c.765G>A (p.Ser255=)

SNV
Germline

Chr11:62692663

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA6053481

rs_774120735

2 SubmittersRCV002226102 RCV003093890

NM_170707.4(LMNA):c.717C>A (p.Ser239Arg)

SNV
Germline

Chr1:156134882

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342817262

rs_2102881081

2 SubmittersRCV002226591 RCV005095784

NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln)

SNV
Germline

Chr12:109802993

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA386655924

rs_1289139464

3 SubmittersRCV002226614 RCV003319508

NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe)

SNV
Germline

Chr7:30617187

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Parkinsonian disorder

Criteria Provided
Conflicting Classifications

CA4205944

rs_774169230

2 SubmittersRCV002238450 RCV005626612

NM_002047.4(GARS1):c.1533T>C (p.Asp511=)

SNV
Germline

Chr7:30622382

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA454254584

rs_1388554818

2 SubmittersRCV002238457 RCV003491058

NM_002047.4(GARS1):c.1663A>G (p.Met555Val)

SNV
Germline

Chr7:30626283

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA156057173

rs_1023871853

2 SubmittersRCV002238460 RCV004047322

NM_003680.4(YARS1):c.835C>T (p.Arg279Ter)

SNV
Germline

Chr1:32786433

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA745073

rs_767579114

2 SubmittersRCV002239064 RCV004047354

NM_003680.4(YARS1):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr1:32791226

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA745148

rs_371267865

2 SubmittersRCV002239074 RCV002463143

NM_003680.4(YARS1):c.587A>G (p.Glu196Gly)

SNV
Germline

Chr1:32797767

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA339686502

rs_2148610315

2 SubmittersRCV002239643 RCV002463144

NM_004990.4(MARS1):c.323A>G (p.Lys108Arg)

SNV
Germline

Chr12:57489467

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA237807233

rs_1037400402

2 SubmittersRCV002239197 RCV004047359

NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln)

SNV
Germline

Chr12:57500356

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6650429

rs_150428018

3 SubmittersRCV002239224 RCV004047366 RCV004694182

NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys)

SNV
Germline

Chr12:57511751

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
not specified

Criteria Provided
Conflicting Classifications

CA6650515

rs_781462684

2 SubmittersRCV002239238 RCV004047368

NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile)

SNV
Germline

Chr12:57511774

Conflicting classifications of pathogenicity

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA385461387

rs_1173899198

3 SubmittersRCV002239239 RCV002511139 RCV004045082

NM_001605.3(AARS1):c.2518C>T (p.Arg840Ter)

SNV
Germline

Chr16:70253921

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396555139

rs_1173826571

1 SubmittersRCV002236815

NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn)

SNV
Germline

Chr16:70253933

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA396555191

rs_1217292644

2 SubmittersRCV002239792 RCV003138115

NM_001605.3(AARS1):c.2177+1G>A

SNV
Germline

Chr16:70258032

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA8140546

rs_766251338

3 SubmittersRCV002239803 RCV005001295 RCV005930003

NM_001605.3(AARS1):c.1992+1G>A

SNV
Germline

Chr16:70258979

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396557881

rs_1960065852

1 SubmittersRCV002236861

NM_001605.3(AARS1):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr16:70259180

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA8140662

rs_752548366

1 SubmittersRCV002236873

NM_001605.3(AARS1):c.1789C>T (p.Arg597Ter)

SNV
Germline

Chr16:70259183

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA283430496

rs_768830699

1 SubmittersRCV002236876

NM_001605.3(AARS1):c.1222G>T (p.Gly408Ter)

SNV
Germline

Chr16:70267659

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396563162

rs_369135192

1 SubmittersRCV002236910

NM_001605.3(AARS1):c.1071+1G>A

SNV
Germline

Chr16:70268270

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396564043

rs_2152160643

1 SubmittersRCV002236920

NM_001605.3(AARS1):c.704A>G (p.Lys235Arg)

SNV
Germline

Chr16:70270308

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA8141061

rs_755350912

3 SubmittersRCV002239836 RCV003426365 RCV005930004

NM_001605.3(AARS1):c.480G>C (p.Gly160=)

SNV
Germline

Chr16:70271972

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA496210961

rs_2152163363

2 SubmittersRCV002239841 RCV004603184

NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)

SNV
Germline

Chr16:70276987

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA396569374

rs_1398433261

3 SubmittersRCV002239845 RCV002247706

NM_001605.3(AARS1):c.37C>T (p.Arg13Ter)

SNV
Germline

Chr16:70282727

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8141246

rs_761931081

2 SubmittersRCV002236980 RCV005421231

NM_000399.5(EGR2):c.1064A>G (p.Asp355Gly)

SNV
Germline

Chr10:62813574

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 1D

Criteria Provided
Conflicting Classifications

CA377027885

rs_1589080611

2 SubmittersRCV002247803 RCV004785541

NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg)

SNV
Germline

Chr1:116395248

Likely pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD

Criteria Provided
Single Submitter

CA341771637

rs_2101055022

1 SubmittersRCV002248975

NM_001005373.4(LRSAM1):c.2084G>A (p.Cys695Tyr)

SNV
Germline

Chr9:127502811

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA374938717

rs_2132133868

2 SubmittersRCV002249097 RCV002416536

NM_000530.8(MPZ):c.449-2A>G

SNV
Germline

Chr1:161306466

Likely pathogenic

Charcot-Marie-Tooth disease type 1B

Criteria Provided
Single Submitter

CA343346672

rs_2102258343

1 SubmittersRCV002249103

NM_018082.6(POLR3B):c.2045G>A (p.Arg682Lys)

SNV
Germline

Chr12:106444552

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

Criteria Provided
Conflicting Classifications

CA386391329

rs_2137017154

3 SubmittersRCV002284512 RCV004797638 RCV002249137

NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp)

SNV
Germline

Chr16:70255822

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA396557094

rs_150873930

2 SubmittersRCV002249208 RCV005631030

NM_001605.3(AARS1):c.977G>C (p.Arg326Pro)

SNV
Germline

Chr16:70268365

Pathogenic

Charcot-Marie-Tooth disease axonal type 2N

Criteria Provided
Single Submitter

CA396564268

rs_2152160758

1 SubmittersRCV002249209

NM_000166.6(GJB1):c.395G>A (p.Trp132Ter)

SNV
Germline

ChrX:71224102

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413502158

rs_2147946047

1 SubmittersRCV002250015

NM_000166.6(GJB1):c.494T>A (p.Leu165Gln)

SNV
Germline

ChrX:71224201

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413502774

rs_1602349468

1 SubmittersRCV002250016

NM_000530.8(MPZ):c.401A>T (p.Asp134Val)

SNV
Germline

Chr1:161306755

Pathogenic

Charcot-Marie-Tooth disease type 1B

Criteria Provided
Single Submitter

CA343348654

rs_1571818775

1 SubmittersRCV002250120

NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter)

SNV
Germline

Chr8:24956462

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA370624182

rs_1431523432

2 SubmittersRCV002250136

NM_024577.4(SH3TC2):c.731+2T>G

SNV
Germline

Chr5:149041414

Pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361674207

rs_2127400622

1 SubmittersRCV002250351

NM_170707.4(LMNA):c.971A>G (p.Glu324Gly)

SNV
Germline

Chr1:156135935

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342820046

rs_2102886914

2 SubmittersRCV002267267 RCV003096060

NM_022489.4(INF2):c.605A>G (p.Asn202Ser)

SNV
Germline

Chr14:104703392

Likely pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Single Submitter

CA391213364

rs_2140648522

2 SubmittersRCV002267598 RCV005008500

NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter)

SNV
Germline

Chr5:149027155

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA3498968

rs_758871406

1 SubmittersRCV002272790

NM_003680.4(YARS1):c.290A>G (p.Tyr97Cys)

SNV
Germline

Chr1:32810681

Conflicting classifications of pathogenicity

Neurodevelopmental delay
Charcot-Marie-Tooth disease dominant intermediate C

Criteria Provided
Conflicting Classifications

CA339687196

rs_1360212575

2 SubmittersRCV002274437 RCV003096170

NM_021625.5(TRPV4):c.2142C>T (p.Leu714=)

SNV
Germline

Chr12:109788466

Conflicting classifications of pathogenicity

Connective tissue disorder
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA6780015

rs_751939888

2 SubmittersRCV002278821 RCV003611577

NM_001376.5(DYNC1H1):c.2457C>T (p.Gly819=)

SNV
Germline

Chr14:101986682

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA266981051

rs_148030949

3 SubmittersRCV002279016 RCV003528364 RCV003916440

NM_014874.4(MFN2):c.600-31T>G

SNV
Germline

Chr1:11998739

Pathogenic

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Criteria Provided
Single Submitter

CA18009160

rs_369186298

1 SubmittersRCV002280366

NM_170707.4(LMNA):c.658C>G (p.Arg220Gly)

SNV
Germline

Chr1:156134823

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342817147

rs_370134870

2 SubmittersRCV002281466 RCV003581815

NM_000701.8(ATP1A1):c.12+3G>T

SNV
Germline

Chr1:116373526

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypomagnesemia, seizures, and intellectual disability 2
Charcot-Marie-tooth disease, axonal, type 2DD
Intellectual disability

Criteria Provided
Conflicting Classifications

CA10737499

rs_945278904

5 SubmittersRCV002282835 RCV003096338 RCV005008515 RCV005626627

NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)

SNV
Germline

Chr19:10823846

Likely pathogenic

Autosomal dominant centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Centronuclear myopathy

Reviewed By Expert Panel

CA404041025

rs_2513348956

3 SubmittersRCV002283935 RCV003447331 RCV005645372

NM_006096.4(NDRG1):c.390-2A>G

SNV
Germline

Chr8:133258428

Likely pathogenic

Charcot-Marie-Tooth disease type 4D
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

CA372255974

rs_2538056425

2 SubmittersRCV002283960 RCV005930267

NM_002109.6(HARS1):c.345T>A (p.Tyr115Ter)

SNV
Germline

Chr5:140679839

Conflicting classifications of pathogenicity

Autosomal dominant Charcot-Marie-Tooth disease type 2W
Usher syndrome type 3B

Criteria Provided
Conflicting Classifications

CA3444132

rs_771201777

2 SubmittersRCV002284018 RCV006616641

NM_001303256.3(MORC2):c.733G>A (p.Ala245Thr)

SNV
Germline

Chr22:30941524

Conflicting classifications of pathogenicity

Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Conflicting Classifications

CA10187173

rs_771884588

2 SubmittersRCV002287239 RCV003754935

NM_001376.5(DYNC1H1):c.5411G>A (p.Arg1804Gln)

SNV
Germline

Chr14:102005214

Conflicting classifications of pathogenicity

See cases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352412

rs_746543001

2 SubmittersRCV002287816 RCV006470440

NM_001365088.1(SLC12A6):c.2971A>G (p.Thr991Ala)

SNV
Germline

Chr15:34236779

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, IIa 2II
Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA391618017

rs_2509746048

3 SubmittersRCV002287912 RCV003134422 RCV004801189

NM_001365088.1(SLC12A6):c.865G>A (p.Glu289Lys)

SNV
Germline

Chr15:34255273

Pathogenic

Charcot-Marie-Tooth disease, axonal, IIa 2II

No Assertion Criteria Provided

CA391610105

rs_2509820987

1 SubmittersRCV002287913

NM_001365088.1(SLC12A6):c.2036A>C (p.Tyr679Ser)

SNV
Germline

Chr15:34243980

Pathogenic

Charcot-Marie-Tooth disease, axonal, IIa 2II

No Assertion Criteria Provided

CA391620476

rs_2140682156

1 SubmittersRCV002287915

NM_000166.6(GJB1):c.21C>A (p.Tyr7Ter)

SNV
Germline

ChrX:71223728

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413499380

rs_2092541958

1 SubmittersRCV002288368

NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)

SNV
Germline

ChrX:71223751

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413499524

rs_863224974

2 SubmittersRCV002473363 RCV002289183

NM_018972.4(GDAP1):c.716T>C (p.Leu239Pro)

SNV
Germline

Chr8:74364006

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Single Submitter

CA371549905

rs_2536749948

1 SubmittersRCV002289293

NM_001005373.4(LRSAM1):c.1159+1G>A

SNV
Germline

Chr9:127483021

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374932125

rs_2539396830

1 SubmittersRCV002290054

NM_007289.4(MME):c.536-1G>A

SNV
Germline

Chr3:155116867

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T
Condition: not provided
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA2675206

rs_759072209

4 SubmittersRCV002290102 RCV003097784 RCV005931687

NM_000188.3(HK1):c.271C>T (p.Arg91Ter)

SNV
Germline

Chr10:69359941

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376910557

rs_2540327631

2 SubmittersRCV002290165 RCV002463196

NM_002437.5(MPV17):c.187-2A>T

SNV
Germline

Chr2:27312774

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Single Submitter

CA346209060

rs_2465683526

1 SubmittersRCV002290188

NM_014845.6(FIG4):c.446+2T>C

SNV
Germline

Chr6:109727267

Likely pathogenic

Charcot-Marie-Tooth disease type 4J

Criteria Provided
Single Submitter

CA365217389

rs_1775850515

1 SubmittersRCV002290416

NM_000530.8(MPZ):c.585-2A>G

SNV
Germline

Chr1:161306170

Likely pathogenic

Charcot-Marie-Tooth disease type 1B

Criteria Provided
Single Submitter

CA343345062

rs_1553259536

1 SubmittersRCV002290418

NM_002764.4(PRPS1):c.826C>T (p.Pro276Ser)

SNV
Germline

ChrX:107647727

Likely pathogenic

Charcot-Marie-Tooth disease X-linked recessive 5

No Assertion Criteria Provided

CA413814833

rs_2521349816

1 SubmittersRCV002291147

NM_001376.5(DYNC1H1):c.314T>C (p.Ile105Thr)

SNV
Germline

Chr14:101975769

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391006335

rs_2503672265

2 SubmittersRCV002292030 RCV003642988

NM_001376.5(DYNC1H1):c.2357G>A (p.Arg786His)

SNV
Germline

Chr14:101986582

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391023161

rs_1181434652

3 SubmittersRCV002292161 RCV003289501 RCV003642989

NM_022489.4(INF2):c.1812A>T (p.Arg604=)

SNV
Germline

Chr14:104708512

Conflicting classifications of pathogenicity

Kidney disorder
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372682

rs_758465730

2 SubmittersRCV002294673 RCV003774990

NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)

SNV
Germline

Chr14:104714316

Conflicting classifications of pathogenicity

Kidney disorder
Inborn genetic diseases
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373192

rs_549518317

4 SubmittersRCV002294680 RCV002325722 RCV003774991

NM_022489.4(INF2):c.2892C>T (p.Pro964=)

SNV
Germline

Chr14:104713458

Conflicting classifications of pathogenicity

Kidney disorder
not specified
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7373126

rs_772442590

3 SubmittersRCV002294733 RCV006269643 RCV006558780

NM_001376.5(DYNC1H1):c.9215C>T (p.Ser3072Leu)

SNV
Germline

Chr14:102027785

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA391011514

rs_2503805285

3 SubmittersRCV002304955 RCV005552691 RCV006460111

NM_001376.5(DYNC1H1):c.9721A>G (p.Lys3241Glu)

SNV
Germline

Chr14:102029897

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391016992

rs_2503812014

1 SubmittersRCV002305123

NM_002224.4(ITPR3):c.1843G>A (p.Val615Met)

SNV
Germline

Chr6:33667921

Pathogenic

Charcot-Marie-Tooth disease, demyelinating, type 1J

No Assertion Criteria Provided

CA363695997

rs_2533046082

1 SubmittersRCV002305677

NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys)

SNV
Germline

Chr6:33692839

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, demyelinating, type 1J
ITPR3-related disorder
Condition: not provided
Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy

Criteria Provided
Conflicting Classifications

CA363715812

rs_2533186607

6 SubmittersRCV002305678 RCV003408224 RCV003330107 RCV005603764

NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)

SNV
Germline

Chr6:33680375

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, demyelinating, type 1J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363704359

rs_1561875704

5 SubmittersRCV002305679 RCV004719253

NM_001376.5(DYNC1H1):c.3372T>A (p.His1124Gln)

SNV
Germline

Chr14:101995024

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391033760

rs_2503715383

1 SubmittersRCV002306232

NM_007289.4(MME):c.838G>T (p.Glu280Ter)

SNV
Germline

Chr3:155138219

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355129430

rs_1402177037

2 SubmittersRCV002308494 RCV006558910

NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr17:42538483

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399598793

rs_2510653397

2 SubmittersRCV002307903 RCV003775027

NM_001365951.3(KIF1B):c.3528C>G (p.Ile1176Met)

SNV
Germline

Chr1:10342064

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA581811

rs_748616468

2 SubmittersRCV004047899 RCV005096254

NM_001365951.3(KIF1B):c.1307T>C (p.Met436Thr)

SNV
Germline

Chr1:10282406

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA580935

rs_765001553

2 SubmittersRCV004051962 RCV005096519

NM_001365951.3(KIF1B):c.3633-5T>C

SNV
Germline

Chr1:10343227

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA2574206162

rs_2521760199

2 SubmittersRCV004048653 RCV005096292

NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)

SNV
Germline

Chr14:104714835

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373340

rs_779017318

3 SubmittersRCV003094290 RCV002452672

NM_022489.4(INF2):c.3674G>A (p.Arg1225His)

SNV
Germline

Chr14:104714836

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373342

rs_571301599

2 SubmittersRCV003094292 RCV002452679

NM_022489.4(INF2):c.3166G>A (p.Gly1056Ser)

SNV
Germline

Chr14:104714328

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
INF2-related disorder

Criteria Provided
Conflicting Classifications

CA7373195

rs_528063130

3 SubmittersRCV002322577 RCV003099252 RCV003403788

NM_001540.5(HSPB1):c.364+6C>T

SNV
Germline

Chr7:76303082

Conflicting classifications of pathogenicity

Inborn genetic diseases
HSPB1-related disorder
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Conflicting Classifications

CA575786752

rs_753061670

3 SubmittersRCV002346609 RCV004734491 RCV006470585

NM_001540.5(HSPB1):c.365-5C>A

SNV
Germline

Chr7:76303797

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Conflicting Classifications

CA575786726

rs_368936457

2 SubmittersRCV002346653 RCV003102418

NM_001365951.3(KIF1B):c.3958C>T (p.Arg1320Trp)

SNV
Germline

Chr1:10352639

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581955

rs_764473301

2 SubmittersRCV003094381 RCV004048156

NM_030962.4(SBF2):c.3979-5C>T

SNV
Germline

Chr11:9812713

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5881084

rs_771787085

3 SubmittersRCV002375526 RCV003102493 RCV003403790

NM_001365951.3(KIF1B):c.4140G>T (p.Lys1380Asn)

SNV
Germline

Chr1:10361013

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581993

rs_772880800

2 SubmittersRCV003581831 RCV004050588

NM_001365951.3(KIF1B):c.430-5C>T

SNV
Germline

Chr1:10267375

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580717

rs_372491552

2 SubmittersRCV003094638 RCV004049960

NM_022489.4(INF2):c.466G>A (p.Glu156Lys)

SNV
Germline

Chr14:104703179

Conflicting classifications of pathogenicity

Inborn genetic diseases
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Melanoma

Criteria Provided
Conflicting Classifications

CA7372302

rs_751772396

3 SubmittersRCV002330505 RCV003096412 RCV005931835

NM_024577.4(SH3TC2):c.515T>C (p.Leu172Pro)

SNV
Germline

Chr5:149042708

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA361675409

rs_1408319932

2 SubmittersRCV002338311 RCV003096634

NM_001136472.2(LITAF):c.50C>T (p.Pro17Leu)

SNV
Germline

Chr16:11556681

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 1C

Criteria Provided
Conflicting Classifications

CA7904194

rs_372309415

2 SubmittersRCV002351486 RCV003102689

NM_001376.5(DYNC1H1):c.5121G>C (p.Lys1707Asn)

SNV
Germline

Chr14:102004833

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352356

rs_774112675

2 SubmittersRCV002344193 RCV006559035

NM_001376.5(DYNC1H1):c.12076G>A (p.Asp4026Asn)

SNV
Germline

Chr14:102041708

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353814

rs_768636289

3 SubmittersRCV002347402 RCV003096836 RCV003128862

NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr6:109735244

Pathogenic/Likely pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3955844

rs_745554323

3 SubmittersRCV002355853 RCV003098064 RCV004793784

NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)

SNV
Germline

Chr1:156134482

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
11 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342816992

rs_2102878915

4 SubmittersRCV002355911 RCV003098072 RCV005042815 RCV006553228

NM_001365951.3(KIF1B):c.5173G>A (p.Val1725Ile)

SNV
Germline

Chr1:10374930

Conflicting classifications of pathogenicity

Ovarian cancer
not specified
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA582279

rs_753477704

3 SubmittersRCV003154068 RCV004050921 RCV005050566

NM_001365951.3(KIF1B):c.5210A>G (p.Lys1737Arg)

SNV
Germline

Chr1:10374967

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA582289

rs_768636898

2 SubmittersRCV004050976 RCV005096729

NM_001376.5(DYNC1H1):c.6485C>T (p.Ser2162Leu)

SNV
Germline

Chr14:102010819

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352630

rs_751081074

2 SubmittersRCV002356221 RCV003098261

NM_001365951.3(KIF1B):c.4864T>C (p.Ser1622Pro)

SNV
Germline

Chr1:10371180

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA338327433

rs_2521951908

2 SubmittersRCV004052039 RCV005096639

NM_014874.4(MFN2):c.475-5A>G

SNV
Germline

Chr1:11997292

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA598844

rs_375925656

2 SubmittersRCV002337646 RCV003775958

NM_001365951.3(KIF1B):c.1038A>G (p.Arg346=)

SNV
Germline

Chr1:10277986

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA415879946

rs_1205403546

2 SubmittersRCV003744001 RCV004055332

NM_001365951.3(KIF1B):c.887A>G (p.Lys296Arg)

SNV
Germline

Chr1:10275432

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580837

rs_141350047

2 SubmittersRCV003103525 RCV004056636

NM_022489.4(INF2):c.917G>A (p.Arg306His)

SNV
Germline

Chr14:104706983

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7372465

rs_777010216

2 SubmittersRCV002450032 RCV003774160

NM_001365951.3(KIF1B):c.704A>G (p.Asn235Ser)

SNV
Germline

Chr1:10268247

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580756

rs_765617846

2 SubmittersRCV003776341 RCV004055186

NM_001376.5(DYNC1H1):c.889G>A (p.Val297Ile)

SNV
Germline

Chr14:101980478

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351604

rs_753435051

2 SubmittersRCV002376032 RCV006559182

NM_170707.4(LMNA):c.937-2A>G

SNV
Germline

Chr1:156135899

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342819702

rs_2527988932

4 SubmittersRCV002371739 RCV005433217 RCV006469930

NM_001376.5(DYNC1H1):c.10473A>C (p.Lys3491Asn)

SNV
Germline

Chr14:102034035

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA391025781

rs_201109134

3 SubmittersRCV002392636 RCV003096963 RCV003408268

NM_021629.4(GNB4):c.181A>T (p.Met61Leu)

SNV
Germline

Chr3:179419421

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate F

Criteria Provided
Conflicting Classifications

CA2712561

rs_764497524

2 SubmittersRCV002410325 RCV003574950

NM_001376.5(DYNC1H1):c.13132C>T (p.Arg4378Trp)

SNV
Germline

Chr14:102047942

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7354150

rs_777747436

2 SubmittersRCV002385494 RCV005097431

NM_001376.5(DYNC1H1):c.13864G>A (p.Val4622Met)

SNV
Germline

Chr14:102050486

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7354383

rs_757007288

2 SubmittersRCV002396524 RCV003528388

NM_020631.6(PLEKHG5):c.1543-2A>G

SNV
Germline

Chr1:6470645

Conflicting classifications of pathogenicity

Inborn genetic diseases
PLEKHG5-related disorder
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Conflicting Classifications

CA338126128

rs_1644540599

3 SubmittersRCV002403208 RCV003408266 RCV003774377

NM_170707.4(LMNA):c.178C>A (p.Arg60Ser)

SNV
Germline

Chr1:156115096

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342808090

rs_28928900

2 SubmittersRCV002407755 RCV006620620

NM_001376.5(DYNC1H1):c.10267G>A (p.Ala3423Thr)

SNV
Germline

Chr14:102033338

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353387

rs_762851661

2 SubmittersRCV002380909 RCV005097423

NM_001365951.3(KIF1B):c.1515A>G (p.Arg505=)

SNV
Germline

Chr1:10292047

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA415879570

rs_1391892586

2 SubmittersRCV003581854 RCV004058918

NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)

SNV
Germline

Chr14:104708565

Conflicting classifications of pathogenicity

Inborn genetic diseases
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA391218840

rs_200155666

2 SubmittersRCV002414991 RCV003774531

NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)

SNV
Germline

Chr14:104709632

Conflicting classifications of pathogenicity

Inborn genetic diseases
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372817

rs_781255309

2 SubmittersRCV002422033 RCV003775085

NM_001365951.3(KIF1B):c.2205A>G (p.Glu735=)

SNV
Germline

Chr1:10320132

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA581466

rs_766964585

2 SubmittersRCV004059692 RCV005097918

NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)

SNV
Germline

Chr1:6468567

Pathogenic/Likely pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Autosomal recessive PLEKHG5-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA338117859

rs_1199089543

3 SubmittersRCV002443849 RCV003775165 RCV006634007

NM_001365951.3(KIF1B):c.2538-3T>C

SNV
Germline

Chr1:10324755

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581551

rs_765394037

2 SubmittersRCV003101789 RCV004063410

NM_001005373.4(LRSAM1):c.2047-4C>T

SNV
Germline

Chr9:127502770

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA2506340681

rs_2539470565

2 SubmittersRCV002420013 RCV003101029

NM_006096.4(NDRG1):c.205+1G>C

SNV
Germline

Chr8:133264546

Pathogenic/Likely pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA372256420

rs_1060503092

2 SubmittersRCV002421804 RCV003098581

NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)

SNV
Germline

Chr12:109788596

Conflicting classifications of pathogenicity

Inborn genetic diseases
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA386650669

rs_2548718084

3 SubmittersRCV002417373 RCV003330108 RCV005642825

NM_001365951.3(KIF1B):c.2594G>A (p.Ser865Asn)

SNV
Germline

Chr1:10324814

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581564

rs_573774777

2 SubmittersRCV003101840 RCV004063884

NM_001376.5(DYNC1H1):c.10738C>G (p.Leu3580Val)

SNV
Germline

Chr14:102034436

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353464

rs_200525912

2 SubmittersRCV002416949 RCV003097411

NM_030962.4(SBF2):c.229C>T (p.Arg77Ter)

SNV
Germline

Chr11:10042894

Pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA217636254

rs_890667586

2 SubmittersRCV002446289 RCV006559356

NM_022489.4(INF2):c.2419-5T>C

SNV
Germline

Chr14:104711624

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA267328489

rs_913833582

3 SubmittersRCV002459772 RCV003098866

NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)

SNV
Germline

Chr1:6468048

Pathogenic

Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Multiple Submitters
No Conflicts

CA561093

rs_778854412

2 SubmittersRCV002441375 RCV003775368

NM_022489.4(INF2):c.2789G>A (p.Arg930Gln)

SNV
Germline

Chr14:104713220

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373089

rs_752180110

2 SubmittersRCV002441384 RCV005227768

NM_181882.3(PRX):c.2750G>A (p.Arg917Gln)

SNV
Germline

Chr19:40395602

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9443985

rs_745442249

2 SubmittersRCV002439372 RCV003102176

NM_001365951.3(KIF1B):c.3040G>T (p.Ala1014Ser)

SNV
Germline

Chr1:10334635

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581676

rs_772779601

3 SubmittersRCV003742842 RCV004063109

NM_022489.4(INF2):c.2834C>T (p.Ala945Val)

SNV
Germline

Chr14:104713265

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA391222742

rs_1249742050

2 SubmittersRCV002435155 RCV005227770

NM_001365951.3(KIF1B):c.3125A>C (p.Asn1042Thr)

SNV
Germline

Chr1:10336738

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581703

rs_201731199

2 SubmittersRCV003581880 RCV004065439

NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)

SNV
Germline

Chr16:70267710

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8140906

rs_147580372

2 SubmittersRCV002460568 RCV003103069

NM_004990.4(MARS1):c.491-5C>G

SNV
Germline

Chr12:57490202

Conflicting classifications of pathogenicity

not specified
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA605705135

rs_761648454

2 SubmittersRCV004067467 RCV005227777

NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)

SNV
Germline

Chr16:70269750

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA8141015

rs_541788902

2 SubmittersRCV002461587 RCV003581882

NM_001376.5(DYNC1H1):c.335A>G (p.Lys112Arg)

SNV
Germline

Chr14:101975790

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351496

rs_757242487

2 SubmittersRCV002462659 RCV003103141

NM_001303256.3(MORC2):c.3031G>A (p.Asp1011Asn)

SNV
Unknown

Chr22:30926871

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy

Criteria Provided
Single Submitter

CA411228892

rs_1342054043

1 SubmittersRCV002465008

NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)

SNV
Germline

Chr14:102008233

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391051290

rs_2503746851

2 SubmittersRCV002467416 RCV002573596

NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter)

SNV
Germline

Chr11:95862325

Pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

CA226612363

rs_115506357

1 SubmittersRCV002467477

NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)

SNV
Germline

Chr9:127501130

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Conflicting Classifications

CA374938348

rs_2132128518

2 SubmittersRCV002468436

NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)

SNV
Germline

Chr14:102033309

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353383

rs_776130043

2 SubmittersRCV002468849 RCV003528403

NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)

SNV
Germline

Chr19:10793818

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA404048018

rs_2071835414

2 SubmittersRCV002469922 RCV002569369

NM_002972.4(SBF1):c.2948T>C (p.Leu983Pro)

SNV
Germline

Chr22:50461178

Likely pathogenic

Charcot-Marie-Tooth disease type 4B3

Criteria Provided
Single Submitter

CA412207718

rs_2521930871

1 SubmittersRCV002471622

NM_002972.4(SBF1):c.2569+2T>C

SNV
Germline

Chr22:50461945

Likely pathogenic

Charcot-Marie-Tooth disease type 4B3

Criteria Provided
Single Submitter

CA412208889

rs_2521943497

1 SubmittersRCV002471659

NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)

SNV
Germline

Chr15:44573548

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA490329305

rs_2082470151

3 SubmittersRCV002471726 RCV005008596

NM_022489.4(INF2):c.1733G>A (p.Arg578His)

SNV
Germline

Chr14:104708000

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7372628

rs_374535109

2 SubmittersRCV002472259 RCV003775519

NM_006158.5(NEFL):c.66C>T (p.Pro22=)

SNV
Germline

Chr8:24956450

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA460020831

rs_1208531254

2 SubmittersRCV002474337 RCV002571515

NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)

SNV
Germline

Chr1:12009642

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Conflicting Classifications

CA599338

rs_375937289

4 SubmittersRCV002474428 RCV002571525 RCV003333221 RCV003333220 RCV003333219 RCV006460185

NM_170707.4(LMNA):c.807C>G (p.Ala269=)

SNV
Germline

Chr1:156134972

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA421068577

rs_1194309507

4 SubmittersRCV002475097 RCV004007474 RCV006559485

NM_000166.6(GJB1):c.462T>A (p.Tyr154Ter)

SNV
Germline

ChrX:71224169

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413502596

rs_879254098

2 SubmittersRCV002475246 RCV004556862

NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys)

SNV
Germline

Chr8:24954184

Likely pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

CA370620764

rs_2486883041

1 SubmittersRCV003037286

NM_001303256.3(MORC2):c.1396G>A (p.Asp466Asn)

SNV
Germline

Chr22:30937685

Pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411238446

rs_2517588823

1 SubmittersRCV003050579

NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)

SNV
Germline

Chr17:42543547

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8577049

rs_771560656

3 SubmittersRCV003052826 RCV004790334 RCV003052827

NM_014845.6(FIG4):c.67-1G>A

SNV
Germline

Chr6:109715077

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA3955665

rs_768011609

1 SubmittersRCV003063288

NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)

SNV
Germline

Chr17:42536384

Pathogenic/Likely pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA399595333

rs_1460260015

3 SubmittersRCV003050470 RCV003064442 RCV003126267

NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu)

SNV
Germline

Chr17:42536416

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA290771267

rs_104894599

1 SubmittersRCV003050471

NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)

SNV
Germline

Chr17:42536507

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA399595748

rs_1276484671

3 SubmittersRCV003064443 RCV004721102

NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter)

SNV
Germline

Chr17:42537471

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399598148

rs_1352416909

2 SubmittersRCV003041306 RCV005636692

NM_000263.4(NAGLU):c.1022-2A>G

SNV
Germline

Chr17:42543026

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399600777

rs_2510658575

2 SubmittersRCV003064444

NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter)

SNV
Germline

Chr17:42543488

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399603952

rs_1165365401

1 SubmittersRCV003050473

NM_030973.4(MED25):c.809C>A (p.Pro270Gln)

SNV
Germline

Chr19:49830208

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA406914253

rs_756463606

2 SubmittersRCV003056803 RCV003073871

NM_001005361.3(DNM2):c.2306G>A (p.Arg769His)

SNV
Germline

Chr19:10830141

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9201586

rs_747108670

2 SubmittersRCV003076565 RCV004790339

NM_001376.5(DYNC1H1):c.2377G>A (p.Glu793Lys)

SNV
Germline

Chr14:101986602

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7351808

rs_777505460

2 SubmittersRCV003067119 RCV003395579

NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)

SNV
Germline

Chr14:104712981

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7373059

rs_775431460

2 SubmittersRCV003051147 RCV003076386

NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)

SNV
Germline

Chr1:156130624

Pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342814995

rs_1222398892

2 SubmittersRCV003091152 RCV004071975

NM_014845.6(FIG4):c.1584-1G>T

SNV
Germline

Chr6:109766728

Likely pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA365228450

rs_1432399232

2 SubmittersRCV003067657 RCV003143464

NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)

SNV
Germline

Chr17:42536507

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA399595752

rs_1276484671

2 SubmittersRCV003069089 RCV004071763

NM_170707.4(LMNA):c.893G>A (p.Arg298His)

SNV
Germline

Chr1:156135269

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA31011856

rs_762653476

5 SubmittersRCV003085902 RCV004009388 RCV004786826 RCV005402002

NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)

SNV
Germline

Chr1:156130691

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815378

rs_2527936480

1 SubmittersRCV003061524

NM_002764.4(PRPS1):c.531-15C>A

SNV
Germline

ChrX:107645162

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Arts syndrome
Phosphoribosylpyrophosphate synthetase superactivity
Hearing loss, X-linked 1
Charcot-Marie-Tooth disease X-linked recessive 5

Criteria Provided
Conflicting Classifications

CA333058982

rs_200259438

2 SubmittersRCV003088539 RCV005050732

NM_022489.4(INF2):c.3249C>T (p.Ser1083=)

SNV
Germline

Chr14:104714411

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7373214

rs_776501374

2 SubmittersRCV002584641 RCV003130840

NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)

SNV
Germline

Chr8:74364004

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371549889

rs_2536749929

2 SubmittersRCV002610213

NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter)

SNV
Germline

Chr17:42543924

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA8577121

rs_753670246

1 SubmittersRCV003100650

NM_001376.5(DYNC1H1):c.13872C>G (p.Phe4624Leu)

SNV
Germline

Chr14:102050494

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

CA391052439

rs_375918532

2 SubmittersRCV003080549 RCV005239655

NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)

SNV
Germline

Chr12:32619817

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA384364680

rs_1949691247

1 SubmittersRCV003095588

NM_001365951.3(KIF1B):c.3913G>A (p.Glu1305Lys)

SNV
Germline

Chr1:10348697

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581920

rs_762078299

2 SubmittersRCV002585156 RCV004073393

NM_001376.5(DYNC1H1):c.13516-5C>T

SNV
Germline

Chr14:102049709

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354283

rs_774351913

2 SubmittersRCV002607245 RCV004621735

NM_001376.5(DYNC1H1):c.6208G>A (p.Val2070Ile)

SNV
Germline

Chr14:102010073

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Asphyxiating thoracic dystrophy 3

Criteria Provided
Conflicting Classifications

CA7352560

rs_751769427

2 SubmittersRCV002611298 RCV003992709

NM_006158.5(NEFL):c.1044+2T>G

SNV
Germline

Chr8:24955470

Likely pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

CA370621056

rs_1586127899

1 SubmittersRCV002620475

NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)

SNV
Germline

Chr11:95858617

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Multiple Submitters
No Conflicts

CA382428663

rs_2496570033

2 SubmittersRCV002616404 RCV005254712

NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu)

SNV
Germline

Chr17:42541141

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399600298

rs_2510656611

2 SubmittersRCV002636551 RCV005239681

NM_024577.4(SH3TC2):c.1408A>T (p.Ile470Leu)

SNV
Germline

Chr5:149028324

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA361668903

rs_779447016

2 SubmittersRCV002592163 RCV002610999

NM_002437.5(MPV17):c.461+1G>C

SNV
Germline

Chr2:27311898

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MPV17-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346207014

rs_770838975

3 SubmittersRCV002651443 RCV005028319 RCV004733604

NM_001005361.3(DNM2):c.778C>A (p.Leu260Ile)

SNV
Germline

Chr19:10783049

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA305274036

rs_145607989

2 SubmittersRCV002628741 RCV003143519

NM_024577.4(SH3TC2):c.1406C>T (p.Pro469Leu)

SNV
Germline

Chr5:149028326

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499183

rs_768222032

2 SubmittersRCV002651368 RCV005483362

NM_014874.4(MFN2):c.1100A>C (p.Gln367Pro)

SNV
Germline

Chr1:12002043

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338442965

rs_1639199557

1 SubmittersRCV002648127

NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)

SNV
Germline

Chr1:156115033

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA342807663

rs_267607627

2 SubmittersRCV002664185 RCV005254717

NM_170707.4(LMNA):c.356+2T>G

SNV
Germline

Chr1:156115276

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808914

rs_2527835305

1 SubmittersRCV002648207

NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)

SNV
Germline

Chr9:127462293

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2P
LRSAM1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5246554

rs_749850642

4 SubmittersRCV002624617 RCV003404120 RCV004779443

NM_001376.5(DYNC1H1):c.237G>A (p.Val79=)

SNV
Germline

Chr14:101964928

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA488183164

rs_2503644647

2 SubmittersRCV002634033 RCV003229935

NM_021625.5(TRPV4):c.910C>T (p.Leu304=)

SNV
Germline

Chr12:109798856

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA481867532

rs_1419012591

2 SubmittersRCV002664086 RCV004763551

NM_001376.5(DYNC1H1):c.1825A>G (p.Ile609Val)

SNV
Germline

Chr14:101986050

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391019436

rs_2503693934

1 SubmittersRCV002647510

NM_018972.4(GDAP1):c.1A>G (p.Met1Val)

SNV
Germline

Chr8:74350462

Pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 4A

Criteria Provided
Multiple Submitters
No Conflicts

CA371498957

rs_1474390668

2 SubmittersRCV003105618 RCV005047425

NM_006096.4(NDRG1):c.721C>T (p.Arg241Ter)

SNV
Germline

Chr8:133248749

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372255209

rs_1170222257

1 SubmittersRCV003104548

NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)

SNV
Germline

Chr5:149028182

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA128985300

rs_374869128

1 SubmittersRCV003110497

NM_014874.4(MFN2):c.1036G>T (p.Glu346Ter)

SNV
Germline

Chr1:12001834

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338442486

rs_2523057920

1 SubmittersRCV003116050

NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)

SNV
Germline

Chr1:156134839

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817173

rs_199474724

1 SubmittersRCV003104339

NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)

SNV
Germline

Chr17:42537432

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA399598058

rs_2092909557

2 SubmittersRCV003115663 RCV004763594

NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu)

SNV
Germline

Chr8:74351356

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Conflicting Classifications

CA371499419

rs_1808863345

2 SubmittersRCV002572671 RCV005433236

NM_022489.4(INF2):c.26G>T (p.Arg9Leu)

SNV
Germline

Chr14:104701391

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7372219

rs_529349803

2 SubmittersRCV002573134

NM_022489.4(INF2):c.3568G>A (p.Asp1190Asn)

SNV
Germline

Chr14:104714730

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391225235

rs_1473568112

2 SubmittersRCV002587323 RCV004632012

NM_006096.4(NDRG1):c.699-2A>C

SNV
Germline

Chr8:133248773

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372255260

rs_1855844502

1 SubmittersRCV002608919

NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr)

SNV
Germline

Chr20:10639842

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764226

rs_757600041

2 SubmittersRCV002613310 RCV005025897

NM_001376.5(DYNC1H1):c.6136C>A (p.Arg2046=)

SNV
Germline

Chr14:102010001

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA487970811

rs_1400178483

2 SubmittersRCV002626199 RCV005241509

NM_001605.3(AARS1):c.1705C>T (p.Arg569Ter)

SNV
Germline

Chr16:70261124

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA8140710

rs_747434741

1 SubmittersRCV002631875

NM_022489.4(INF2):c.365A>G (p.Gln122Arg)

SNV
Germline

Chr14:104701730

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372270

rs_567356266

2 SubmittersRCV002627310 RCV004817076

NM_170707.4(LMNA):c.28A>C (p.Thr10Pro)

SNV
Germline

Chr1:156114946

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342806835

rs_2527829303

1 SubmittersRCV002650630

NM_014845.6(FIG4):c.1948+1G>A

SNV
Germline

Chr6:109785029

Likely pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA145176317

rs_984638888

2 SubmittersRCV002662335 RCV005233001

NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)

SNV
Germline

Chr9:133352125

Pathogenic/Likely pathogenic

Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375693551

rs_2490613891

2 SubmittersRCV002650257 RCV005042938

NM_006096.4(NDRG1):c.699-1G>A

SNV
Germline

Chr8:133248772

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372255257

rs_2538025012

1 SubmittersRCV002647147

NM_030962.4(SBF2):c.3257-1G>A

SNV
Germline

Chr11:9839697

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA217617374

rs_746642259

1 SubmittersRCV002646661

NM_014874.4(MFN2):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr1:11997327

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338436336

rs_1638957324

1 SubmittersRCV002726184

NM_001605.3(AARS1):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr16:70276595

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396569042

rs_1960557616

1 SubmittersRCV002672203

NM_001122955.4(BSCL2):c.487-1G>A

SNV
Germline

Chr11:62694712

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA380966360

rs_2539155047

1 SubmittersRCV002681753

NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)

SNV
Germline

Chr1:156115111

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342808154

rs_1168314722

2 SubmittersRCV002700942 RCV004007552

NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)

SNV
Germline

Chr11:68911552

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381643934

rs_863224881

2 SubmittersRCV002715363 RCV004823054

NM_000166.6(GJB1):c.644G>A (p.Arg215Gln)

SNV
Germline

ChrX:71224351

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Conflicting Classifications

CA413503422

rs_864622215

2 SubmittersRCV002691074 RCV004690316

NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)

SNV
Germline

Chr1:156130657

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA342815178

rs_1650974818

2 SubmittersRCV002710779 RCV003317619

NM_002180.3(IGHMBP2):c.1235+1G>T

SNV
Germline

Chr11:68929358

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381647971

rs_2496034758

1 SubmittersRCV002711010

NM_030973.4(MED25):c.1102-13T>G

SNV
Germline

Chr19:49831320

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9585154

rs_374108763

2 SubmittersRCV002711558 RCV004694249

NM_020631.6(PLEKHG5):c.1934-2A>C

SNV
Germline

Chr1:6469452

Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Single Submitter

CA338119954

rs_1405080200

1 SubmittersRCV002721747

NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)

SNV
Germline

Chr17:42544027

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399605893

rs_104894590

1 SubmittersRCV002760999

NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr5:149044611

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361676961

rs_1754427074

1 SubmittersRCV002750412

NM_001605.3(AARS1):c.2673G>A (p.Thr891=)

SNV
Germline

Chr16:70253316

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA8140311

rs_762556251

2 SubmittersRCV002765975 RCV005438155

NM_014845.6(FIG4):c.165+2T>C

SNV
Germline

Chr6:109715178

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955684

rs_747899855

3 SubmittersRCV002780336 RCV004067957 RCV004744441

NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)

SNV
Germline

Chr15:34244014

Pathogenic/Likely pathogenic

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Multiple Submitters
No Conflicts

CA391620548

rs_1416593064

5 SubmittersRCV002776151 RCV003475421 RCV005008754

NM_024577.4(SH3TC2):c.1996C>T (p.Pro666Ser)

SNV
Germline

Chr5:149027736

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499078

rs_780523281

2 SubmittersRCV002766637 RCV004661470

NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)

SNV
Germline

Chr5:149044595

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499543

rs_756857216

2 SubmittersRCV002800054 RCV003138350

NM_005391.5(PDK3):c.42G>C (p.Lys14Asn)

SNV
Germline

ChrX:24465497

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 6
not specified

Criteria Provided
Conflicting Classifications

CA412603174

rs_1481997420

2 SubmittersRCV002756227 RCV004067931

NM_014874.4(MFN2):c.1771C>T (p.Gln591Ter)

SNV
Germline

Chr1:12006592

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338448581

rs_2523094644

1 SubmittersRCV002814828

NM_007289.4(MME):c.1773T>A (p.Asp591Glu)

SNV
Germline

Chr3:155167014

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Conflicting Classifications

CA355218333

rs_2473156355

2 SubmittersRCV002791404 RCV004584234

NM_002437.5(MPV17):c.375+1G>T

SNV
Germline

Chr2:27312493

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Criteria Provided
Multiple Submitters
No Conflicts

CA346207735

rs_2465681506

3 SubmittersRCV002819175 RCV003465836 RCV005233021

NM_170707.4(LMNA):c.955A>T (p.Lys319Ter)

SNV
Germline

Chr1:156135919

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342819893

rs_2527989438

1 SubmittersRCV002806963

NM_170707.4(LMNA):c.194A>T (p.Glu65Val)

SNV
Germline

Chr1:156115112

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808165

rs_2102818172

1 SubmittersRCV002825231

NM_170707.4(LMNA):c.604G>T (p.Glu202Ter)

SNV
Germline

Chr1:156134493

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA342817019

rs_2527968047

2 SubmittersRCV002814720 RCV005405938

NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)

SNV
Germline

Chr1:6471761

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338131938

rs_2523172908

1 SubmittersRCV002815184

NM_022489.4(INF2):c.218G>A (p.Gly73Asp)

SNV
Germline

Chr14:104701583

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Multiple Submitters
No Conflicts

CA391225524

rs_918089359

2 SubmittersRCV002815208 RCV005250257

NM_001376.5(DYNC1H1):c.3269G>A (p.Arg1090Lys)

SNV
Germline

Chr14:101994785

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391033226

rs_2503714817

1 SubmittersRCV002824653

NM_030962.4(SBF2):c.3652+1G>C

SNV
Germline

Chr11:9832223

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379645451

rs_1399471736

1 SubmittersRCV002820311

NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)

SNV
Germline

Chr12:32640417

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA384372559

rs_2540869203

1 SubmittersRCV002815959

NM_014874.4(MFN2):c.705G>C (p.Gln235His)

SNV
Germline

Chr1:11998875

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438639

rs_767601252

1 SubmittersRCV002835156

NM_000530.8(MPZ):c.235-2A>G

SNV
Germline

Chr1:161306923

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343350125

rs_1415733769

1 SubmittersRCV002837992

NM_014845.6(FIG4):c.1271+1G>A

SNV
Germline

Chr6:109760384

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365225636

rs_2486171827

1 SubmittersRCV002870922

NM_170707.4(LMNA):c.1609-2A>G

SNV
Germline

Chr1:156137652

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342825274

rs_2528018166

1 SubmittersRCV002846766

NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)

SNV
Germline

Chr17:42543213

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399601442

rs_1488695477

1 SubmittersRCV002833649

NM_170707.4(LMNA):c.1367A>C (p.Asn456Thr)

SNV
Germline

Chr1:156136423

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342822248

rs_60992550

1 SubmittersRCV002829524

NM_002437.5(MPV17):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr2:27313077

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA346209464

rs_2465685264

2 SubmittersRCV002834549 RCV004571335

NM_001376.5(DYNC1H1):c.9363C>G (p.Ile3121Met)

SNV
Germline

Chr14:102028036

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353212

rs_547968657

2 SubmittersRCV002851642 RCV003167828

NM_000530.8(MPZ):c.601A>T (p.Lys201Ter)

SNV
Germline

Chr1:161306152

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343344912

rs_2526234318

1 SubmittersRCV002844038

NM_170707.4(LMNA):c.655A>T (p.Lys219Ter)

SNV
Germline

Chr1:156134820

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817142

rs_778798942

1 SubmittersRCV002835311

NM_001376.5(DYNC1H1):c.3185A>C (p.Asp1062Ala)

SNV
Germline

Chr14:101994701

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391032843

rs_1429535306

1 SubmittersRCV002863367

NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr17:42543069

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Conflicting Classifications

CA399600983

rs_774687078

2 SubmittersRCV002847702 RCV003340543

NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)

SNV
Germline

Chr11:9808147

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379640258

rs_1853958093

1 SubmittersRCV002852442

NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)

SNV
Germline

Chr6:109716463

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365212156

rs_2486085709

1 SubmittersRCV002857168

NM_000263.4(NAGLU):c.934G>C (p.Asp312His)

SNV
Germline

Chr17:42541119

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399600242

rs_1052471595

1 SubmittersRCV002862745

NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)

SNV
Germline

Chr17:42536508

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399595754

rs_2510650296

1 SubmittersRCV002857746

NM_014874.4(MFN2):c.1496-2A>G

SNV
Germline

Chr1:12005709

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338447812

rs_1483207355

1 SubmittersRCV002900028

NM_022489.4(INF2):c.3241G>T (p.Asp1081Tyr)

SNV
Germline

Chr14:104714403

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373211

rs_571986941

3 SubmittersRCV002902915 RCV005051988

NM_001605.3(AARS1):c.1330G>T (p.Glu444Ter)

SNV
Germline

Chr16:70265555

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396561816

rs_1292379905

1 SubmittersRCV002895720

NM_000304.4(PMP22):c.36C>G (p.His12Gln)

SNV
Germline

Chr17:15260692

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398271729

rs_104894622

1 SubmittersRCV002900303

NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)

SNV
Germline

Chr11:9998289

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379639603

rs_2496157537

1 SubmittersRCV002903867

NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr1:6474527

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338139382

rs_972569803

1 SubmittersRCV002872275

NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)

SNV
Germline

Chr11:10028458

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379645819

rs_2496366381

1 SubmittersRCV002872276

NM_001376.5(DYNC1H1):c.12835G>A (p.Asp4279Asn)

SNV
Germline

Chr14:102044424

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7354045

rs_142900209

2 SubmittersRCV002895126 RCV005409899

NM_170707.4(LMNA):c.1215C>T (p.His405=)

SNV
Germline

Chr1:156136271

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA421257987

rs_2527997089

2 SubmittersRCV002937461 RCV005403249

NM_001365951.3(KIF1B):c.430-15C>G

SNV
Germline

Chr1:10267365

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA580713

rs_368307458

2 SubmittersRCV002914440 RCV005055205

NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)

SNV
Germline

Chr17:42543297

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8576992

rs_759041924

2 SubmittersRCV002918584 RCV006255484

NM_000214.3(JAG1):c.506C>T (p.Thr169Met)

SNV
Germline

Chr20:10658656

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9765117

rs_745324562

4 SubmittersRCV002914086 RCV004548405 RCV005034478 RCV004066257

NM_001376.5(DYNC1H1):c.11858C>T (p.Ala3953Val)

SNV
Germline

Chr14:102040403

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391037115

rs_1319152853

2 SubmittersRCV002937309 RCV003167945

NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro)

SNV
Germline

Chr12:109793561

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386651605

rs_2548728770

1 SubmittersRCV002909907

NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)

SNV
Germline

Chr17:42543195

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399601360

rs_2510659111

1 SubmittersRCV002927882

NM_021629.4(GNB4):c.724G>A (p.Ala242Thr)

SNV
Germline

Chr3:179405382

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate F
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2712423

rs_751400013

3 SubmittersRCV002933832 RCV002933833 RCV003481351

NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)

SNV
Germline

Chr17:42541120

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399600243

rs_2510656576

1 SubmittersRCV002909476

NM_001365951.3(KIF1B):c.2584A>C (p.Met862Leu)

SNV
Germline

Chr1:10324804

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA338335571

rs_1345626148

2 SubmittersRCV002910144 RCV004632103

NM_001376.5(DYNC1H1):c.8762G>A (p.Arg2921Lys)

SNV
Germline

Chr14:102026698

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7353105

rs_746552692

2 SubmittersRCV002953392 RCV004067284

NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)

SNV
Germline

Chr20:10641492

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764373

rs_527420845

2 SubmittersRCV002962070 RCV005028068

NM_001376.5(DYNC1H1):c.13909G>A (p.Glu4637Lys)

SNV
Germline

Chr14:102050531

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354394

rs_746415747

3 SubmittersRCV002944124 RCV003108138 RCV004617138

NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro)

SNV
Germline

Chr1:156137209

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823511

rs_121912494

1 SubmittersRCV002958219

NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)

SNV
Germline

Chr20:10639578

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764181

rs_775241983

2 SubmittersRCV002943694 RCV005028063

NM_001376.5(DYNC1H1):c.3371A>G (p.His1124Arg)

SNV
Germline

Chr14:101995023

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391033758

rs_2503715379

1 SubmittersRCV002933949

NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)

SNV
Germline

Chr11:10031119

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379646675

rs_1345928305

1 SubmittersRCV002966072

NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn)

SNV
Germline

Chr8:24955723

Likely pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

CA370621620

rs_1554497573

1 SubmittersRCV002970693

NM_014874.4(MFN2):c.1892G>A (p.Trp631Ter)

SNV
Germline

Chr1:12007072

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338450334

rs_2523099344

1 SubmittersRCV003018188

NM_001005373.4(LRSAM1):c.1088+2T>G

SNV
Germline

Chr9:127481229

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374931963

rs_1435718430

1 SubmittersRCV002982284

NM_000166.6(GJB1):c.52A>T (p.Thr18Ser)

SNV
Germline

ChrX:71223759

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413500633

rs_1555937012

3 SubmittersRCV002979199 RCV005050678

NM_014874.4(MFN2):c.1156C>T (p.Gln386Ter)

SNV
Germline

Chr1:12002099

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338443414

rs_2523061214

1 SubmittersRCV003015567

NM_170707.4(LMNA):c.1316G>A (p.Arg439His)

SNV
Germline

Chr1:156136372

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342821904

rs_1171976101

4 SubmittersRCV002994876 RCV003533325 RCV004007756 RCV006451308

NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter)

SNV
Germline

Chr17:42538461

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598707

rs_1262407073

1 SubmittersRCV003005516

NM_170707.4(LMNA):c.245A>G (p.Glu82Gly)

SNV
Germline

Chr1:156115163

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808421

rs_2527833277

1 SubmittersRCV003003137

NM_170707.4(LMNA):c.117T>A (p.Asn39Lys)

SNV
Germline

Chr1:156115035

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807688

rs_2527831101

1 SubmittersRCV003019110

NM_170707.4(LMNA):c.317T>C (p.Leu106Pro)

SNV
Germline

Chr1:156115235

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342808766

rs_2527834566

2 SubmittersRCV003030763 RCV005233060

NM_002437.5(MPV17):c.375+1G>A

SNV
Germline

Chr2:27312493

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Criteria Provided
Multiple Submitters
No Conflicts

CA346207742

rs_2465681506

3 SubmittersRCV003010217 RCV003465891 RCV005233057

NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)

SNV
Germline

Chr15:44596178

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392227662

rs_2505369754

2 SubmittersRCV003025690 RCV005010870

NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)

SNV
Germline

Chr17:42538445

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598650

rs_2510653298

1 SubmittersRCV003022820

NM_001376.5(DYNC1H1):c.12903G>A (p.Arg4301=)

SNV
Germline

Chr14:102044595

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7354080

rs_775263568

2 SubmittersRCV003022712 RCV005333433

NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu)

SNV
Germline

Chr7:30612221

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA367125543

rs_2128134025

1 SubmittersRCV003032499

NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter)

SNV
Germline

Chr17:42544086

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399606109

rs_2092930484

1 SubmittersRCV003029393

NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr12:32582450

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA384356567

rs_2540549360

1 SubmittersRCV003028617

NM_000530.8(MPZ):c.448+2T>A

SNV
Germline

Chr1:161306706

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA343348060

rs_1670257221

1 SubmittersRCV003059368

NM_014874.4(MFN2):c.764T>C (p.Ile255Thr)

SNV
Germline

Chr1:11999043

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338439185

rs_2523037323

1 SubmittersRCV003054027

NM_014845.6(FIG4):c.1138-1G>A

SNV
Germline

Chr6:109760249

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365224946

rs_2486171406

1 SubmittersRCV003035440

NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter)

SNV
Germline

Chr17:42543702

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399604508

rs_2510660141

1 SubmittersRCV003046951

NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter)

SNV
Germline

Chr17:42537463

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598131

rs_2510652171

1 SubmittersRCV003043925

NM_006096.4(NDRG1):c.855+2T>C

SNV
Germline

Chr8:133246614

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372254900

rs_2538018196

1 SubmittersRCV003049919

NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)

SNV
Germline

Chr6:109732653

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365218370

rs_2486117018

1 SubmittersRCV003056411

NM_170707.4(LMNA):c.250G>T (p.Glu84Ter)

SNV
Germline

Chr1:156115168

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808449

rs_794728602

1 SubmittersRCV003066344

NM_001376.5(DYNC1H1):c.13736A>G (p.Asn4579Ser)

SNV
Germline

Chr14:102050122

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391051710

rs_1391180102

2 SubmittersRCV002678114 RCV003528431

NM_001376.5(DYNC1H1):c.5405C>T (p.Pro1802Leu)

SNV
Germline

Chr14:102005208

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391046948

rs_1346194464

2 SubmittersRCV002702658 RCV003643031

NM_001376.5(DYNC1H1):c.223C>T (p.His75Tyr)

SNV
Germline

Chr14:101964914

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391003776

rs_1162552295

3 SubmittersRCV002692372 RCV003317652 RCV003643030

NM_001376.5(DYNC1H1):c.7625G>A (p.Ser2542Asn)

SNV
Germline

Chr14:102016776

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352868

rs_769101846

3 SubmittersRCV002702954 RCV003643032 RCV004786852

NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)

SNV
Germline

Chr16:70268376

Pathogenic/Likely pathogenic

Inborn genetic diseases
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease axonal type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA396564290

rs_145859060

3 SubmittersRCV002707900 RCV003777670 RCV005363055

NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)

SNV
Germline

Chr1:12007075

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA599269

rs_760375604

2 SubmittersRCV002803314 RCV003581884

NM_001376.5(DYNC1H1):c.3088C>T (p.Pro1030Ser)

SNV
Germline

Chr14:101994256

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351943

rs_570408889

2 SubmittersRCV002809026 RCV005059286

NM_014845.6(FIG4):c.2377-5C>T

SNV
Germline

Chr6:109792577

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA2580075007

rs_2486234005

2 SubmittersRCV002831670 RCV005059304

NM_002224.4(ITPR3):c.4218C>G (p.Ile1406Met)

SNV
Germline

Chr6:33680127

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, demyelinating, type 1J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3761158

rs_200180514

3 SubmittersRCV003336814 RCV003427634 RCV004188760

NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)

SNV
Germline

Chr3:128813390

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease type 2B

Criteria Provided
Conflicting Classifications

CA2600889

rs_748832566

2 SubmittersRCV002714314 RCV003778578

NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)

SNV
Germline

Chr14:102044014

Conflicting classifications of pathogenicity

Autism spectrum disorder
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353985

rs_773319640

2 SubmittersRCV003127280 RCV003643039

NM_001376.5(DYNC1H1):c.6871G>A (p.Val2291Met)

SNV
Germline

Chr14:102012327

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7352700

rs_779194599

4 SubmittersRCV003129176 RCV003368052 RCV003778686

NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)

SNV
Germline

Chr1:11996202

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA338434260

rs_2523010703

3 SubmittersRCV003129280 RCV003581889

NM_014874.4(MFN2):c.705G>T (p.Gln235His)

SNV
Germline

Chr1:11998875

Pathogenic

Charcot-Marie-Tooth disease type 2A2

No Assertion Criteria Provided

CA338438642

rs_767601252

1 SubmittersRCV003129573

NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)

SNV
Germline

Chr5:149028465

Pathogenic

Charcot-Marie-Tooth disease type 4C

No Assertion Criteria Provided

CA361669355

rs_2531774543

1 SubmittersRCV003129574

NM_005391.5(PDK3):c.695T>C (p.Ile232Thr)

SNV
Germline

ChrX:24526219

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 6

No Assertion Criteria Provided

CA412602446

rs_2518590189

1 SubmittersRCV003129578

NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)

SNV
Germline

Chr1:116395238

Conflicting classifications of pathogenicity

Charcot-Marie-tooth disease, axonal, type 2DD
Charcot-Marie-Tooth disease type 2A2

No Assertion Criteria Provided

CA341771615

rs_2525861491

1 SubmittersRCV003129581 RCV003312093

NM_000399.5(EGR2):c.1190C>A (p.Pro397His)

SNV
Germline

Chr10:62813448

Conflicting classifications of pathogenicity

ERG2-related disorder
Charcot-Marie-Tooth disease type 1D

No Assertion Criteria Provided

CA377027396

rs_2492293699

1 SubmittersRCV003129582 RCV003447336

NM_000166.6(GJB1):c.95G>A (p.Arg32Lys)

SNV
Germline

ChrX:71223802

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA413500892

rs_2519797719

1 SubmittersRCV003129583

NM_000166.6(GJB1):c.90C>G (p.Ile30Met)

SNV
Germline

ChrX:71223797

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA413500861

rs_2519797709

1 SubmittersRCV003129584

NM_000166.6(GJB1):c.88A>T (p.Ile30Phe)

SNV
Germline

ChrX:71223795

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA413500857

rs_2519797700

1 SubmittersRCV003129585

NM_000166.6(GJB1):c.57C>T (p.Ala19=)

SNV
Germline

ChrX:71223764

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA10445275

rs_769450739

1 SubmittersRCV003129586

NM_000166.6(GJB1):c.58A>T (p.Ile20Phe)

SNV
Germline

ChrX:71223765

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA413500669

rs_1555937019

1 SubmittersRCV003129587

NM_000166.6(GJB1):c.48T>C (p.His16=)

SNV
Germline

ChrX:71223755

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA516718561

rs_1270518681

1 SubmittersRCV003129588

NM_000166.6(GJB1):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:71223708

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Multiple Submitters
No Conflicts

CA413499238

rs_1602348517

3 SubmittersRCV003129589 RCV003581890

NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)

SNV
Germline

Chr6:109738451

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Multiple Submitters
No Conflicts

CA365220776

rs_2486126897

2 SubmittersRCV003145690 RCV003988088

NM_002437.5(MPV17):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:27322517

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Conflicting Classifications

CA44472983

rs_553716559

2 SubmittersRCV003131606 RCV005029912

NM_001376.5(DYNC1H1):c.9364G>A (p.Val3122Met)

SNV
Germline

Chr14:102028037

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391013929

rs_1567017307

4 SubmittersRCV003146894 RCV003164862 RCV006612869

NM_006096.4(NDRG1):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr8:133262114

Likely pathogenic

Charcot-Marie-Tooth disease type 4D

Criteria Provided
Single Submitter

CA372256278

rs_2538069534

1 SubmittersRCV003135341

NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)

SNV
Germline

Chr1:156134506

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342817048

rs_2527968384

2 SubmittersRCV003142613 RCV003581891

NM_170707.4(LMNA):c.148C>G (p.Arg50Gly)

SNV
Germline

Chr1:156115066

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342807966

rs_59931416

2 SubmittersRCV003134080 RCV005099310

NM_000166.6(GJB1):c.272T>A (p.Val91Glu)

SNV
Unknown

ChrX:71223979

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413501725

rs_1602349050

1 SubmittersRCV003152859

NM_002180.3(IGHMBP2):c.2599A>T (p.Lys867Ter)

SNV
Unknown

Chr11:68937079

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381654132

rs_753639706

1 SubmittersRCV003152883

NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)

SNV
Germline

Chr12:106380080

Pathogenic/Likely pathogenic

Condition: not provided
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Multiple Submitters
No Conflicts

CA6761756

rs_767558518

4 SubmittersRCV003159442 RCV003447649 RCV005409917

NM_170707.4(LMNA):c.1237G>A (p.Gly413Ser)

SNV
Germline

Chr1:156136293

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA049571

rs_766811975

4 SubmittersRCV003165132 RCV004017972 RCV004009627 RCV005100966

NM_001365951.3(KIF1B):c.2940G>A (p.Leu980=)

SNV
Germline

Chr1:10334535

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA415881734

rs_1279435643

2 SubmittersRCV003745556 RCV004244704

NM_001365951.3(KIF1B):c.3516T>G (p.Ile1172Met)

SNV
Germline

Chr1:10342052

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581809

rs_768884894

2 SubmittersRCV003745558 RCV004244763

NM_001365951.3(KIF1B):c.105C>T (p.Thr35=)

SNV
Germline

Chr1:10232433

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA415878598

rs_2523353154

2 SubmittersRCV004247521 RCV005101010

NM_022489.4(INF2):c.2087C>T (p.Ala696Val)

SNV
Germline

Chr14:104709654

Conflicting classifications of pathogenicity

Inborn genetic diseases
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372822

rs_769120676

2 SubmittersRCV003175526 RCV003779637

NM_001376.5(DYNC1H1):c.5902C>T (p.Leu1968Phe)

SNV
Germline

Chr14:102008262

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391051595

rs_2503746947

2 SubmittersRCV003224929 RCV006612944

NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro)

SNV
Germline

Chr17:42543499

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA399603996

rs_2510659687

2 SubmittersRCV003226657 RCV006561255

NM_005391.5(PDK3):c.249-15T>C

SNV
Germline

ChrX:24498814

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease X-linked dominant 6

Criteria Provided
Conflicting Classifications

CA640999794

rs_1343030430

2 SubmittersRCV003226764 RCV003581904

NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)

SNV
Germline

Chr5:149028041

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C

No Assertion Criteria Provided

CA361667951

rs_1580900986

2 SubmittersRCV003227458

NM_001136472.2(LITAF):c.403C>G (p.Pro135Ala)

SNV
Germline

Chr16:11549720

Likely pathogenic

Charcot-Marie-Tooth disease type 1C

Criteria Provided
Single Submitter

CA394763565

rs_281865135

1 SubmittersRCV003228692

NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)

SNV
Germline

Chr17:42543655

Pathogenic/Likely pathogenic

Condition: not provided
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399604358

rs_2510660046

4 SubmittersRCV003229294 RCV003779829 RCV005061130

NM_025137.4(SPG11):c.4162-10T>G

SNV
Germline

Chr15:44596365

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA7534739

rs_765557765

3 SubmittersRCV003230195 RCV005012821

NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)

SNV
Germline

Chr17:42537475

Conflicting classifications of pathogenicity

not specified
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Conflicting Classifications

CA8576771

rs_770684838

2 SubmittersRCV003230900 RCV003779841

NM_001605.3(AARS1):c.1815C>G (p.His605Gln)

SNV
Germline

Chr16:70259157

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2N

Criteria Provided
Single Submitter

CA396558348

rs_1456469605

1 SubmittersRCV003231055

NM_000530.8(MPZ):c.448+1G>A

SNV
Germline

Chr1:161306707

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
Charcot-Marie-Tooth disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA343348079

rs_1407955132

4 SubmittersRCV003231751 RCV003581906 RCV004285641 RCV005240733

NM_170707.4(LMNA):c.1070A>G (p.Asp357Gly)

SNV
Germline

Chr1:156136034

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA342820315

rs_1131690785

2 SubmittersRCV003231952 RCV006612951

NM_014874.4(MFN2):c.724C>T (p.His242Tyr)

SNV
Germline

Chr1:11999003

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA338438925

rs_2523036866

1 SubmittersRCV003237405

NM_002047.4(GARS1):c.1810-2A>T

SNV
Germline

Chr7:30631446

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA367129848

rs_2534335823

2 SubmittersRCV003745568 RCV004320887

NM_001365951.3(KIF1B):c.2696G>A (p.Cys899Tyr)

SNV
Germline

Chr1:10326131

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA338336816

rs_1188099847

2 SubmittersRCV003581916 RCV004331445

NM_000530.8(MPZ):c.234+1G>A

SNV
Germline

Chr1:161307257

Pathogenic

Charcot-Marie-Tooth disease type 1B

Criteria Provided
Single Submitter

CA343350251

rs_2526243073

1 SubmittersRCV003482911

NM_001376.5(DYNC1H1):c.3365C>T (p.Ser1122Phe)

SNV
Germline

Chr14:101995017

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391033721

rs_1459382670

2 SubmittersRCV003314483 RCV005102866

NM_002677.5(PMP2):c.128T>G (p.Ile43Ser)

SNV
Germline

Chr8:81444935

Likely pathogenic

Charcot-Marie-Tooth disease, demyelinating, type 1G

No Assertion Criteria Provided

CA371518216

rs_879253869

1 SubmittersRCV003482922

NM_002224.4(ITPR3):c.445C>T (p.Arg149Trp)

SNV
Germline

Chr6:33658745

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, type 1J

Criteria Provided
Conflicting Classifications

CA363683661

rs_1237600471

2 SubmittersRCV003325845 RCV004813227

NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)

SNV
Germline

Chr14:102044349

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O
DYNC1H1-related disorder

Criteria Provided
Conflicting Classifications

CA391043823

rs_2048688941

3 SubmittersRCV003326900 RCV003528460 RCV003395752

NM_006158.5(NEFL):c.292A>C (p.Asn98His)

SNV
Germline

Chr8:24956224

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease, dominant intermediate G

Criteria Provided
Multiple Submitters
No Conflicts

CA370622899

rs_2486887879

2 SubmittersRCV003327199 RCV005254768

NM_018972.4(GDAP1):c.118-1G>A

SNV
Germline

Chr8:74351273

Likely pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371499229

rs_2536724594

1 SubmittersRCV003331862

NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)

SNV
Unknown

Chr14:102010013

Likely pathogenic

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391053403

rs_2503751017

1 SubmittersRCV003333565 RCV003333567 RCV003333566

NM_007126.5(VCP):c.766C>G (p.Arg256Gly)

SNV
Germline

Chr9:35063023

Likely pathogenic

Childhood Onset VCP-related Neurodevelopmental Disorder
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Charcot-Marie-Tooth disease type 2Y

Criteria Provided
Multiple Submitters
No Conflicts

CA373286437

rs_2490360233

2 SubmittersRCV003333707 RCV003883215

NM_001605.3(AARS1):c.479+1G>T

SNV
Germline

Chr16:70276485

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2N

Criteria Provided
Single Submitter

CA396568441

rs_2507028484

1 SubmittersRCV003336696

NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)

SNV
Germline

Chr1:11992660

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA338462165

rs_28940291

1 SubmittersRCV003337861

NM_024577.4(SH3TC2):c.731+1G>A

SNV
Germline

Chr5:149041415

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361674216

rs_2531791358

1 SubmittersRCV003338058

NM_001365951.3(KIF1B):c.5172C>T (p.Val1724=)

SNV
Germline

Chr1:10374929

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA415888591

rs_1217853804

2 SubmittersRCV003778119 RCV004364403

NM_000166.6(GJB1):c.455T>C (p.Val152Ala)

SNV
Unknown

ChrX:71224162

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

No Assertion Criteria Provided

CA413502553

rs_1602349388

1 SubmittersRCV003388962

NM_001376.5(DYNC1H1):c.11755G>C (p.Gly3919Arg)

SNV
Germline

Chr14:102040300

Conflicting classifications of pathogenicity

DYNC1H1-related disorder
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA391036620

rs_1332271433

3 SubmittersRCV003404568 RCV005061396 RCV005104338

NM_022489.4(INF2):c.2617A>G (p.Ile873Val)

SNV
Germline

Chr14:104712834

Conflicting classifications of pathogenicity

INF2-related disorder
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA391222097

rs_1453391298

3 SubmittersRCV003393157 RCV005012937

NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)

SNV
Germline

Chr5:149027898

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361667628

rs_2531773136

1 SubmittersRCV003444077

NM_007289.4(MME):c.329T>G (p.Leu110Ter)

SNV
Germline

Chr3:155115126

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

CA355127637

rs_2472967212

1 SubmittersRCV003444539

NM_007289.4(MME):c.1892G>A (p.Trp631Ter)

SNV
Unknown

Chr3:155168603

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

No Assertion Criteria Provided

CA355218623

rs_2473162385

1 SubmittersRCV003445419

NM_000166.6(GJB1):c.272T>C (p.Val91Ala)

SNV
Unknown

ChrX:71223979

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

CA413501727

rs_1602349050

1 SubmittersRCV003445450

NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)

SNV
Germline

Chr8:24956224

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Conflicting Classifications

CA370622897

rs_2486887879

2 SubmittersRCV003445469

NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter)

SNV
Germline

Chr11:62694607

Pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Single Submitter

CA380965464

rs_1402657239

2 SubmittersRCV003581939 RCV004573134

NM_002437.5(MPV17):c.408T>A (p.Tyr136Ter)

SNV
Unknown

Chr2:27312214

Pathogenic

Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Single Submitter

CA346207417

rs_1572542511

1 SubmittersRCV003470184

NM_002437.5(MPV17):c.462-2A>C

SNV
Unknown

Chr2:27309983

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Single Submitter

CA1575471

rs_767818298

1 SubmittersRCV003470186

NM_002437.5(MPV17):c.101C>G (p.Ser34Ter)

SNV
Germline

Chr2:27313079

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, axonal, type 2EE
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346209468

rs_2465685275

2 SubmittersRCV003470188 RCV003708807

NM_002437.5(MPV17):c.461+1G>T

SNV
Unknown

Chr2:27311898

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Single Submitter

CA1575505

rs_770838975

1 SubmittersRCV003470189

NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)

SNV
Germline

Chr15:34240825

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Multiple Submitters
No Conflicts

CA391619895

rs_1162530361

3 SubmittersRCV003472745 RCV003779113 RCV005012973

NM_181882.3(PRX):c.1134C>T (p.Ala378=)

SNV
Germline

Chr19:40397218

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA308421134

rs_889462287

2 SubmittersRCV003482809 RCV003745606

NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)

SNV
Germline

Chr19:40394634

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443800

rs_761602674

3 SubmittersRCV003482812 RCV003745607 RCV005467968

NM_016156.6(MTMR2):c.323C>T (p.Thr108Met)

SNV
Unknown

Chr11:95862306

Likely pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

CA382430120

rs_1214822130

1 SubmittersRCV003485999

NM_001005361.3(DNM2):c.1533C>T (p.Ala511=)

SNV
Germline

Chr19:10805955

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease dominant intermediate B

Criteria Provided
Conflicting Classifications

CA9201214

rs_368598401

2 SubmittersRCV003490708 RCV003779241

NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser)

SNV
Germline

Chr1:156138539

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342826571

rs_578193315

2 SubmittersRCV003582338 RCV005622241

NM_001376.5(DYNC1H1):c.10666G>C (p.Ala3556Pro)

SNV
Germline

Chr14:102034364

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353458

rs_752337704

2 SubmittersRCV003528551 RCV004780566

NM_181882.3(PRX):c.2362A>T (p.Lys788Ter)

SNV
Germline

Chr19:40395990

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA405896455

rs_2514803553

1 SubmittersRCV003583307

NM_030962.4(SBF2):c.3979-2A>G

SNV
Germline

Chr11:9812710

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379643648

rs_2494620013

1 SubmittersRCV003583328

NM_001376.5(DYNC1H1):c.11257C>T (p.Leu3753=)

SNV
Germline

Chr14:102039051

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA488185937

rs_2503844415

2 SubmittersRCV003528479 RCV004780564

NM_014874.4(MFN2):c.395G>T (p.Cys132Phe)

SNV
Germline

Chr1:11996239

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338434631

rs_1569830013

1 SubmittersRCV003582407

NM_001365951.3(KIF1B):c.184-6T>G

SNV
Germline

Chr1:10258487

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA580647

rs_761723354

2 SubmittersRCV003582456 RCV005022015

NM_001376.5(DYNC1H1):c.1407T>G (p.Phe469Leu)

SNV
Germline

Chr14:101983555

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391016007

rs_1261638807

1 SubmittersRCV003528945

NM_170707.4(LMNA):c.734T>A (p.Leu245Gln)

SNV
Germline

Chr1:156134899

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817293

rs_2527973813

1 SubmittersRCV003582417

NM_170707.4(LMNA):c.356+2T>A

SNV
Germline

Chr1:156115276

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342808912

rs_2527835305

1 SubmittersRCV003582339

NM_001605.3(AARS1):c.962+1G>T

SNV
Germline

Chr16:70269617

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396564393

rs_1361458223

1 SubmittersRCV003582466

NM_170707.4(LMNA):c.884C>A (p.Ser295Ter)

SNV
Germline

Chr1:156135260

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817751

rs_769210828

1 SubmittersRCV003582582

NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)

SNV
Germline

Chr11:9808080

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379639771

rs_2494599240

1 SubmittersRCV003581275

NM_001005373.4(LRSAM1):c.1043+1G>T

SNV
Germline

Chr9:127479979

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA5246791

rs_373571535

1 SubmittersRCV003529240

NM_170707.4(LMNA):c.179G>A (p.Arg60His)

SNV
Germline

Chr1:156115097

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Conflicting Classifications

CA342808091

rs_794728601

2 SubmittersRCV003581110 RCV005254823

NM_001376.5(DYNC1H1):c.13633G>A (p.Val4545Ile)

SNV
Germline

Chr14:102049831

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266989399

rs_963048075

2 SubmittersRCV003529275 RCV004369206

NM_021625.5(TRPV4):c.2461C>T (p.Arg821Cys)

SNV
Germline

Chr12:109783776

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Spondylometaphyseal dysplasia, Kozlowski type

Criteria Provided
Conflicting Classifications

CA386648663

rs_1411305679

2 SubmittersRCV003506255 RCV006562076

NM_001376.5(DYNC1H1):c.12045G>T (p.Glu4015Asp)

SNV
Germline

Chr14:102041677

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391037873

rs_1203128797

2 SubmittersRCV003529270 RCV004810016

NM_001376.5(DYNC1H1):c.12047C>A (p.Ser4016Tyr)

SNV
Germline

Chr14:102041679

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391037882

rs_370026529

2 SubmittersRCV003529271 RCV004810017

NM_001005361.3(DNM2):c.746G>A (p.Arg249His)

SNV
Germline

Chr19:10783017

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA404045207

rs_1428679687

2 SubmittersRCV003508692 RCV004980877

NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)

SNV
Germline

Chr11:10031063

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379646558

rs_1590797444

1 SubmittersRCV003583574

NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)

SNV
Germline

Chr5:149026715

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361665348

rs_141091803

1 SubmittersRCV003583698

NM_014874.4(MFN2):c.1067C>G (p.Thr356Ser)

SNV
Germline

Chr1:12002010

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338442750

rs_1569853976

1 SubmittersRCV003581418

NM_170707.4(LMNA):c.121C>T (p.Arg41Cys)

SNV
Germline

Chr1:156115039

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807740

rs_1572332164

1 SubmittersRCV003581422

NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)

SNV
Germline

Chr1:156130657

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342815176

rs_1650974818

1 SubmittersRCV003581424

NM_170707.4(LMNA):c.778A>G (p.Lys260Glu)

SNV
Germline

Chr1:156134943

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA342817387

rs_2527974976

2 SubmittersRCV003581426 RCV005604813

NM_170707.4(LMNA):c.1124C>G (p.Ala375Gly)

SNV
Germline

Chr1:156136088

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820540

rs_886042239

1 SubmittersRCV003581427

NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys)

SNV
Germline

Chr1:156137184

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342823357

rs_794728595

1 SubmittersRCV003581428

NM_001005373.4(LRSAM1):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr9:127479875

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374931438

rs_1835471115

1 SubmittersRCV003529510

NM_001376.5(DYNC1H1):c.6604A>G (p.Met2202Val)

SNV
Germline

Chr14:102010938

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7352640

rs_771240057

2 SubmittersRCV003529613 RCV005824558

NM_001303256.3(MORC2):c.1271C>G (p.Thr424Arg)

SNV
Germline

Chr22:30937913

Pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411238932

rs_2517589889

1 SubmittersRCV003593344

NM_014874.4(MFN2):c.779G>A (p.Trp260Ter)

SNV
Germline

Chr1:11999058

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338439269

rs_2523037515

1 SubmittersRCV003582715

NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)

SNV
Germline

Chr7:30612213

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA367125505

rs_2534306033

1 SubmittersRCV003581439

NM_006158.5(NEFL):c.1150A>T (p.Ile384Phe)

SNV
Germline

Chr8:24954200

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA370620799

rs_1325294849

2 SubmittersRCV003516310 RCV006251259

NM_024577.4(SH3TC2):c.3054-2A>G

SNV
Germline

Chr5:149012736

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361663185

rs_1580891465

1 SubmittersRCV003581468

NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)

SNV
Germline

Chr11:9998283

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379639551

rs_1381069212

1 SubmittersRCV003583677

NM_001376.5(DYNC1H1):c.9466C>T (p.Gln3156Ter)

SNV
Germline

Chr14:102028139

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391014814

rs_2503806504

1 SubmittersRCV003529632

NM_001005373.4(LRSAM1):c.1717C>T (p.Gln573Ter)

SNV
Germline

Chr9:127495982

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374935606

rs_150882646

1 SubmittersRCV003529634

NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)

SNV
Germline

Chr5:149041556

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA361674699

rs_1206217022

1 SubmittersRCV003583795

NM_170707.4(LMNA):c.74G>A (p.Arg25His)

SNV
Germline

Chr1:156114992

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807260

rs_61578124

1 SubmittersRCV003582949

NM_001605.3(AARS1):c.966T>A (p.Tyr322Ter)

SNV
Germline

Chr16:70268376

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396564291

rs_145859060

1 SubmittersRCV003582875

NM_014874.4(MFN2):c.317G>A (p.Ser106Asn)

SNV
Germline

Chr1:11996161

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338433847

rs_2523010293

1 SubmittersRCV003582914

NM_014845.6(FIG4):c.2376+1G>A

SNV
Germline

Chr6:109791572

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365216944

rs_753008987

1 SubmittersRCV003583859

NM_001605.3(AARS1):c.2070T>G (p.Tyr690Ter)

SNV
Germline

Chr16:70258140

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396557712

rs_754266971

1 SubmittersRCV003582968

NM_001005373.4(LRSAM1):c.73-2A>T

SNV
Germline

Chr9:127454996

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374961557

rs_2539301850

1 SubmittersRCV003529787

NM_014874.4(MFN2):c.775C>A (p.Arg259Ser)

SNV
Germline

Chr1:11999054

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338439241

rs_587777875

1 SubmittersRCV003582989

NM_007289.4(MME):c.1066A>T (p.Lys356Ter)

SNV
Germline

Chr3:155142099

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA355129958

rs_2473073611

2 SubmittersRCV003564848 RCV005409945

NM_170707.4(LMNA):c.827A>C (p.Gln276Pro)

SNV
Germline

Chr1:156135203

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817504

rs_2527978799

1 SubmittersRCV003583004

NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr6:109766859

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365228749

rs_2486185880

1 SubmittersRCV003583988

NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)

SNV
Germline

Chr1:156130715

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA342815482

rs_2527936976

2 SubmittersRCV003582052 RCV004634299

NM_170707.4(LMNA):c.725C>A (p.Ala242Glu)

SNV
Germline

Chr1:156134890

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342817275

rs_397517906

1 SubmittersRCV003745626

NM_021625.5(TRPV4):c.1058G>A (p.Cys353Tyr)

SNV
Germline

Chr12:109798708

Pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386654351

rs_961707608

1 SubmittersRCV003611731

NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)

SNV
Germline

Chr8:74351295

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

CA371499275

rs_2536724673

1 SubmittersRCV003612503

NM_006096.4(NDRG1):c.40A>T (p.Lys14Ter)

SNV
Germline

Chr8:133284272

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372248814

rs_2538131347

1 SubmittersRCV003745767

NM_001303256.3(MORC2):c.1271C>A (p.Thr424Lys)

SNV
Germline

Chr22:30937913

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

CA411238933

rs_2517589889

1 SubmittersRCV003755402

NM_001005373.4(LRSAM1):c.1089-1G>C

SNV
Germline

Chr9:127482949

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374931968

rs_1437816655

1 SubmittersRCV003643588

NM_014845.6(FIG4):c.165+2T>G

SNV
Germline

Chr6:109715178

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365211786

rs_747899855

1 SubmittersRCV003744111

NM_030962.4(SBF2):c.4933-1G>A

SNV
Germline

Chr11:9787739

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379633208

rs_2494503596

1 SubmittersRCV003744113

NM_000530.8(MPZ):c.283T>C (p.Phe95Leu)

SNV
Germline

Chr1:161306873

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343349688

rs_1399612102

4 SubmittersRCV003741831 RCV004999987

NM_014874.4(MFN2):c.700A>T (p.Met234Leu)

SNV
Germline

Chr1:11998870

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438585

rs_2100831955

1 SubmittersRCV003744244

NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter)

SNV
Germline

Chr19:40394981

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA405894032

rs_2514800211

1 SubmittersRCV003744217

NM_001370298.3(FGD4):c.504-2A>C

SNV
Germline

Chr12:32581958

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA384355491

rs_1240797253

1 SubmittersRCV003744269

NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)

SNV
Germline

Chr8:133256789

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372255674

rs_2538050102

1 SubmittersRCV003744143

NM_170707.4(LMNA):c.409C>T (p.Leu137=)

SNV
Germline

Chr1:156130669

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA053365

rs_747998566

2 SubmittersRCV003744179 RCV004765932

NM_001122955.4(BSCL2):c.1006-2A>C

SNV
Germline

Chr11:62691143

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA380958742

rs_879254029

1 SubmittersRCV003744196

NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)

SNV
Germline

Chr8:133259227

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372256115

rs_2538059618

1 SubmittersRCV003744233

NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)

SNV
Germline

Chr11:10002585

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379643406

rs_2496189670

1 SubmittersRCV003744151

NM_014845.6(FIG4):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:109691436

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365206382

rs_1490935299

1 SubmittersRCV003744283

NM_000304.4(PMP22):c.78+2T>C

SNV
Germline

Chr17:15260648

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398271645

rs_2508226622

1 SubmittersRCV003741949

NM_001376.5(DYNC1H1):c.3183G>C (p.Trp1061Cys)

SNV
Germline

Chr14:101994699

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability, autosomal dominant 13

Criteria Provided
Conflicting Classifications

CA391032833

rs_2503714657

2 SubmittersRCV003643955 RCV004786994

NM_030962.4(SBF2):c.4699-1G>T

SNV
Germline

Chr11:9789343

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA379634566

rs_2494513770

1 SubmittersRCV003744341

NM_001005373.4(LRSAM1):c.2131C>T (p.Gln711Ter)

SNV
Germline

Chr9:127502858

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374939640

rs_780492552

1 SubmittersRCV003644094

NM_014874.4(MFN2):c.711A>C (p.Glu237Asp)

SNV
Germline

Chr1:11998990

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338438831

rs_1557525000

1 SubmittersRCV003743058

NM_014874.4(MFN2):c.379G>C (p.Gly127Arg)

SNV
Germline

Chr1:11996223

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338434440

rs_2523010895

1 SubmittersRCV003743103

NM_001005373.4(LRSAM1):c.2092C>T (p.Gln698Ter)

SNV
Germline

Chr9:127502819

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374938779

rs_2539470786

1 SubmittersRCV003644340

NM_001376.5(DYNC1H1):c.10405G>A (p.Glu3469Lys)

SNV
Germline

Chr14:102033476

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA391025110

rs_2503824109

2 SubmittersRCV003644325 RCV004371859

NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)

SNV
Germline

Chr1:156136010

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
11 conditions

Criteria Provided
Conflicting Classifications

CA342820264

rs_58789393

3 SubmittersRCV003743173 RCV004805565 RCV005047775

NM_001376.5(DYNC1H1):c.1441G>C (p.Val481Leu)

SNV
Germline

Chr14:101983589

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7351681

rs_770305875

2 SubmittersRCV003644446

NM_006096.4(NDRG1):c.537+1G>T

SNV
Germline

Chr8:133256776

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372255645

rs_2538050013

1 SubmittersRCV003743302

NM_170707.4(LMNA):c.143G>A (p.Arg48His)

SNV
Germline

Chr1:156115061

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342807943

rs_1572332235

1 SubmittersRCV003743314

NM_014874.4(MFN2):c.2170C>A (p.Leu724Ile)

SNV
Germline

Chr1:12009692

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Criteria Provided
Single Submitter

1 SubmittersRCV004690457

NM_025137.4(SPG11):c.1602+1G>A

SNV
Germline

Chr15:44648865

Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392235461

rs_2505710044

2 SubmittersRCV003600337 RCV005013125

NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg)

SNV
Germline

Chr7:76302828

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Single Submitter

CA160899027

rs_557327165

1 SubmittersRCV003617756

NM_001376.5(DYNC1H1):c.5305A>G (p.Met1769Val)

SNV
Germline

Chr14:102005108

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7352395

rs_770746870

2 SubmittersRCV003642684 RCV004721217

NM_001376.5(DYNC1H1):c.13643C>T (p.Ser4548Leu)

SNV
Germline

Chr14:102049841

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7354294

rs_377323091

2 SubmittersRCV003642817 RCV004765972

NM_014874.4(MFN2):c.2170C>G (p.Leu724Val)

SNV
Germline

Chr1:12009692

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA338453290

rs_2523122904

1 SubmittersRCV003745229

NM_014845.6(FIG4):c.1040-1G>A

SNV
Germline

Chr6:109743674

Likely pathogenic

Charcot-Marie-Tooth disease type 4
Yunis-Varon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3955975

rs_778949599

2 SubmittersRCV003745257 RCV004787009

NM_000304.4(PMP22):c.440T>C (p.Leu147Pro)

SNV
Germline

Chr17:15230960

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

CA398739523

rs_1597597445

1 SubmittersRCV003740999

NM_001376.5(DYNC1H1):c.13763C>T (p.Thr4588Met)

SNV
Germline

Chr14:102050149

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease type 5

Criteria Provided
Conflicting Classifications

CA7354351

rs_200971499

2 SubmittersRCV003642842 RCV005871294

NM_001005373.4(LRSAM1):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr9:127492844

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

CA374934375

rs_2539433562

1 SubmittersRCV003643362

NM_022489.4(INF2):c.3722A>G (p.Lys1241Arg)

SNV
Germline

Chr14:104715311

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7373374

rs_768068589

2 SubmittersRCV003783808

NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)

SNV
Germline

Chr17:42541018

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA8576884

rs_775364669

1 SubmittersRCV003781848

NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)

SNV
Germline

Chr17:42543370

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA8577008

rs_375103824

2 SubmittersRCV003781849 RCV006255226

NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)

SNV
Germline

Chr17:42543952

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA8577125

rs_527236038

1 SubmittersRCV003781850

NM_002180.3(IGHMBP2):c.1632+1G>T

SNV
Germline

Chr11:68934559

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381650989

rs_2496062221

1 SubmittersRCV003781884

NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)

SNV
Germline

Chr17:42537402

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

CA399597909

rs_2092909477

2 SubmittersRCV003783712

NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)

SNV
Germline

Chr17:42537496

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598206

rs_2510652210

1 SubmittersRCV003783714

NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)

SNV
Germline

Chr17:42543178

Conflicting classifications of pathogenicity

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
not specified

Criteria Provided
Conflicting Classifications

CA399601294

rs_2510659057

2 SubmittersRCV003783715 RCV005240923

NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)

SNV
Germline

Chr17:42543230

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399601505

rs_780376108

1 SubmittersRCV003781415

NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)

SNV
Germline

Chr17:42543681

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399604432

rs_767510451

1 SubmittersRCV003781491

NM_000263.4(NAGLU):c.2T>G (p.Met1Arg)

SNV
Germline

Chr17:42536274

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399594819

rs_1013345784

1 SubmittersRCV003789454

NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr11:68911478

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA6153335

rs_564145037

1 SubmittersRCV003789520

NM_002180.3(IGHMBP2):c.449+2T>A

SNV
Germline

Chr11:68908339

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381643404

rs_2495950864

1 SubmittersRCV003790012

NM_022489.4(INF2):c.285C>T (p.Ala95=)

SNV
Germline

Chr14:104701650

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

CA7372259

rs_757222949

2 SubmittersRCV003793081

NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly)

SNV
Germline

Chr17:42543343

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399601933

rs_2510659337

1 SubmittersRCV003779414

NM_002180.3(IGHMBP2):c.711+1G>A

SNV
Germline

Chr11:68911604

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

CA381644060

rs_774079947

1 SubmittersRCV003782585

NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)

SNV
Germline

Chr1:6469133

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338118415

rs_1349734606

1 SubmittersRCV003780742

NM_002180.3(IGHMBP2):c.86+1G>T

SNV
Germline

Chr11:68904039

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA223381919

rs_1012702109

1 SubmittersRCV003785161

NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)

SNV
Germline

Chr11:68906164

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381642417

rs_1858185076

1 SubmittersRCV003793983

NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)

SNV
Germline

Chr1:6469049

Pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Single Submitter

CA338117930

rs_2523127742

1 SubmittersRCV003808324

NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)

SNV
Germline

Chr11:68939576

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381654833

rs_1859672389

1 SubmittersRCV003806758

NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)

SNV
Germline

Chr1:6470542

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338124703

rs_775517465

1 SubmittersRCV003805788

NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)

SNV
Germline

Chr17:42537433

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399598060

rs_753520553

1 SubmittersRCV003801507

NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)

SNV
Germline

Chr11:68937047

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381654017

rs_2154008953

1 SubmittersRCV003801590

NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)

SNV
Germline

Chr17:42537422

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399598023

rs_750741772

1 SubmittersRCV003802807

NM_020631.6(PLEKHG5):c.1542+1G>C

SNV
Germline

Chr1:6470734

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338126223

rs_1644545351

1 SubmittersRCV003805294

NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)

SNV
Germline

Chr17:42543354

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

CA399601977

rs_1213961819

1 SubmittersRCV003794451

NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)

SNV
Germline

Chr17:42543047

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399600895

rs_2510658609

1 SubmittersRCV003796949

NM_020631.6(PLEKHG5):c.1393-2A>C

SNV
Germline

Chr1:6470886

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338127278

rs_2523157602

1 SubmittersRCV003802597

NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)

SNV
Germline

Chr11:68911580

Pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381644006

rs_1555243325

1 SubmittersRCV003800684

NM_020631.6(PLEKHG5):c.2250-2A>C

SNV
Germline

Chr1:6468588

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338117904

rs_2523120586

1 SubmittersRCV003808903

NM_020631.6(PLEKHG5):c.1801-2A>G

SNV
Germline

Chr1:6469678

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

CA338122667

rs_2523138636

1 SubmittersRCV003804584

NM_020631.6(PLEKHG5):c.1680+1G>T

SNV
Germline

Chr1:6470505

Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Single Submitter

CA338124213

rs_2523149242

1 SubmittersRCV003817862

NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)

SNV
Germline

Chr1:6469145

Pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Single Submitter

CA338118576

rs_1644488970

1 SubmittersRCV003813536

NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)

SNV
Germline

Chr1:6475485

Pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Single Submitter

CA338140536

rs_2523229122

1 SubmittersRCV003809857

NM_020631.6(PLEKHG5):c.2249+1G>A

SNV
Germline

Chr1:6469041

Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Single Submitter

CA338117910

rs_1440168275

1 SubmittersRCV003810009

NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)

SNV
Germline

Chr11:68911530

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

CA381643873

rs_137852666

1 SubmittersRCV003810076

NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)

SNV
Germline

Chr17:42543687

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399604453

rs_1335776131

1 SubmittersRCV003802506

NM_022489.4(INF2):c.1555C>A (p.Pro519Thr)

SNV
Germline

Chr14:104707822

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA7372590

rs_763374096

2 SubmittersRCV003802540

NM_000263.4(NAGLU):c.764+2T>C

SNV
Germline

Chr17:42538757

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

CA399599167

rs_2092914076

1 SubmittersRCV003805088

NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)

SNV
Germline

Chr1:6471055

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Multiple Submitters
No Conflicts

CA338127958

rs_750665866

2 SubmittersRCV003810207 RCV003992797

NM_024577.4(SH3TC2):c.1160C>T (p.Pro387Leu)

SNV
Germline

Chr5:149028694

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3499272

rs_149973463

2 SubmittersRCV003822914 RCV005392706

NM_170707.4(LMNA):c.1138T>A (p.Leu380Met)

SNV
Germline

Chr1:156136102

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA342820594

rs_1215331296

1 SubmittersRCV003838514

NM_001303256.3(MORC2):c.2134C>T (p.Pro712Ser)

SNV
Germline

Chr22:30934840

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Z
Condition: not provided

Criteria Provided
Conflicting Classifications

CA411234540

rs_1401272017

2 SubmittersRCV003830045 RCV005412603

NM_001605.3(AARS1):c.691A>T (p.Lys231Ter)

SNV
Germline

Chr16:70270321

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA396565658

rs_1960369184

1 SubmittersRCV003845486

NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)

SNV
Germline

Chr6:109784985

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA3956226

rs_773462879

1 SubmittersRCV003857535

NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)

SNV
Germline

Chr8:133256790

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA372255675

rs_2538050109

1 SubmittersRCV003864118

NM_007289.4(MME):c.1645G>T (p.Gly549Ter)

SNV
Germline

Chr3:155160433

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2T
MME-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA355218043

rs_1722635259

3 SubmittersRCV003857428 RCV004546816 RCV003893522

NM_001376.5(DYNC1H1):c.7352G>A (p.Arg2451His)

SNV
Germline

Chr14:102015965

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA266952120

rs_528603081

2 SubmittersRCV003854937 RCV005412610

NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)

SNV
Germline

Chr6:109765047

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA365227561

rs_1261940378

1 SubmittersRCV003864605

NM_021625.5(TRPV4):c.2303C>T (p.Ser768Leu)

SNV
Germline

Chr12:109786743

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6779969

rs_762710224

3 SubmittersRCV003871507 RCV004968543 RCV005242447

NM_001376.5(DYNC1H1):c.9469-6T>C

SNV
Germline

Chr14:102029533

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA266964086

rs_562414207

2 SubmittersRCV003879507 RCV004981124

NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)

SNV
Germline

Chr11:95923918

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

CA382416450

rs_1867034667

1 SubmittersRCV003870020

NM_001376.5(DYNC1H1):c.1705C>T (p.Arg569Trp)

SNV
Germline

Chr14:101985930

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

CA391019062

rs_1421708361

1 SubmittersRCV003876771

NM_014874.4(MFN2):c.702G>A (p.Met234Ile)

SNV
Germline

Chr1:11998872

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

CA338438593

rs_2523035483

1 SubmittersRCV003887820

NM_018706.7(DHTKD1):c.2144G>A (p.Arg715His)

SNV
Germline

Chr10:12108005

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2Q
2-aminoadipic 2-oxoadipic aciduria
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5408147

rs_145427732

3 SubmittersRCV003990312 RCV005103170 RCV005555095

NM_006329.4(FBLN5):c.160C>T (p.Arg54Ter)

SNV
Germline

Chr14:91937166

Likely pathogenic

Charcot-Marie-Tooth disease, demyelinating, IIA 1H

Criteria Provided
Single Submitter

CA390640057

rs_2056032001

1 SubmittersRCV003990457

NM_018972.4(GDAP1):c.403G>C (p.Ala135Pro)

SNV
Germline

Chr8:74360229

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Single Submitter

CA371548678

rs_1359367948

1 SubmittersRCV003990510

NM_021625.5(TRPV4):c.2199G>A (p.Trp733Ter)

SNV
Germline

Chr12:109788409

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Single Submitter

CA386649828

rs_2548717189

1 SubmittersRCV003991824

NM_022489.4(INF2):c.578A>G (p.Tyr193Cys)

SNV
Germline

Chr14:104703365

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

CA391213309

rs_2504243195

3 SubmittersRCV003992013 RCV005006353

NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg)

SNV
Germline

Chr17:42543049

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Multiple Submitters
No Conflicts

CA399600910

rs_2092925480

3 SubmittersRCV005015115 RCV006454525

NM_170707.4(LMNA):c.1367A>G (p.Asn456Ser)

SNV
Germline

Chr1:156136423

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA342822250

rs_60992550

4 SubmittersRCV004012546 RCV005103324 RCV005628396 RCV006551117

NM_005391.5(PDK3):c.680C>T (p.Ala227Val)

SNV
Germline

ChrX:24526204

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease X-linked dominant 6

Criteria Provided
Conflicting Classifications

CA10372332

rs_746108651

2 SubmittersRCV004503375 RCV006488624

NM_001365951.3(KIF1B):c.3813G>A (p.Val1271=)

SNV
Germline

Chr1:10347776

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA581889

rs_780521474

2 SubmittersRCV004519700 RCV005059462

NM_024577.4(SH3TC2):c.416T>C (p.Leu139Pro)

SNV
Germline

Chr5:149042807

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361676115

rs_2531793055

2 SubmittersRCV004547427

NM_024577.4(SH3TC2):c.1252C>T (p.Gln418Ter)

SNV
Germline

Chr5:149028480

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA128988613

rs_929383309

1 SubmittersRCV004547429

NM_024577.4(SH3TC2):c.1001+1G>A

SNV
Germline

Chr5:149038294

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361672119

rs_2531787615

1 SubmittersRCV004554974

NM_007289.4(MME):c.1821G>A (p.Trp607Ter)

SNV
Germline

Chr3:155168532

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

CA355218459

rs_2473161755

1 SubmittersRCV004555377

NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)

SNV
Germline

Chr8:81444896

Likely pathogenic

Charcot-Marie-Tooth disease, demyelinating, type 1G

Criteria Provided
Single Submitter

CA371518006

rs_2487481768

1 SubmittersRCV004555990

NM_001376.5(DYNC1H1):c.8780G>A (p.Arg2927His)

SNV
Germline

Chr14:102027182

Conflicting classifications of pathogenicity

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353121

rs_764724223

2 SubmittersRCV004555996 RCV005100828

NM_030962.4(SBF2):c.620G>T (p.Gly207Val)

SNV
Germline

Chr11:10002689

Pathogenic

Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Single Submitter

CA379643770

rs_762408471

1 SubmittersRCV004556159

NM_007289.4(MME):c.238T>C (p.Cys80Arg)

SNV
Germline

Chr3:155115035

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1158932542

2 SubmittersRCV004560359 RCV005426345

NM_030962.4(SBF2):c.1601-2A>G

SNV
Germline

Chr11:9963884

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Multiple Submitters
No Conflicts

rs_113702075

2 SubmittersRCV004575352 RCV005409974

NM_002437.5(MPV17):c.459C>G (p.Tyr153Ter)

SNV
Unknown

Chr2:27311901

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Single Submitter

rs_957850339

1 SubmittersRCV004576212

NM_000530.8(MPZ):c.279G>T (p.Gly93=)

SNV
Germline

Chr1:161306877

Likely pathogenic

Charcot-Marie-Tooth disease dominant intermediate D

Criteria Provided
Single Submitter

1 SubmittersRCV004597209

NM_001376.5(DYNC1H1):c.3185A>G (p.Asp1062Gly)

SNV
Germline

Chr14:101994701

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

No Assertion Criteria Provided

1 SubmittersRCV004767583

NM_016156.6(MTMR2):c.262+5G>T

SNV
Germline

Chr11:95865596

Likely pathogenic

Charcot-Marie-Tooth disease type 4B1

No Assertion Criteria Provided

1 SubmittersRCV004767618

NM_001303256.3(MORC2):c.229G>C (p.Asp77His)

SNV
Germline

Chr22:30949840

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

No Assertion Criteria Provided

1 SubmittersRCV004767651

NM_001605.3(AARS1):c.1572G>A (p.Glu524=)

SNV
Germline

Chr16:70262445

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004598726 RCV005102074

NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile)

SNV
Germline

Chr17:42543316

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004689479 RCV005017214

NM_002180.3(IGHMBP2):c.541G>T (p.Glu181Ter)

SNV
Germline

Chr11:68908625

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

1 SubmittersRCV004689568

NM_000701.8(ATP1A1):c.1028G>A (p.Cys343Tyr)

SNV
Germline

Chr1:116390217

Likely pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD

Criteria Provided
Single Submitter

1 SubmittersRCV006261799

NM_018082.6(POLR3B):c.847-2A>C

SNV
Unknown

Chr12:106405855

Likely pathogenic

Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Single Submitter

1 SubmittersRCV004698397

NM_003172.4(SURF1):c.893C>T (p.Pro298Leu)

SNV
Germline

Chr9:133351923

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004699767 RCV005040755

NM_000166.6(GJB1):c.260C>G (p.Pro87Arg)

SNV
Germline

ChrX:71223967

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004720209

NM_000166.6(GJB1):c.-17G>T

SNV
Unknown

ChrX:71223335

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

1 SubmittersRCV004776324

NM_003172.4(SURF1):c.312T>G (p.Pro104=)

SNV
Germline

Chr9:133354670

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Single Submitter

1 SubmittersRCV004782216

NM_000530.8(MPZ):c.253G>T (p.Gly85Ter)

SNV
Germline

Chr1:161306903

Pathogenic

Charcot-Marie-Tooth disease dominant intermediate D

Criteria Provided
Single Submitter

1 SubmittersRCV004787182

NM_006158.5(NEFL):c.1357G>T (p.Glu453Ter)

SNV
Germline

Chr8:24953608

Pathogenic

Charcot-Marie-Tooth disease type 1F

Criteria Provided
Single Submitter

1 SubmittersRCV004788354

NM_014874.4(MFN2):c.691T>C (p.Ser231Pro)

SNV
Germline

Chr1:11998861

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

Criteria Provided
Single Submitter

1 SubmittersRCV004788369

NM_000530.8(MPZ):c.233C>A (p.Ser78Ter)

SNV
Germline

Chr1:161307259

Pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

1 SubmittersRCV004790074

NM_024577.4(SH3TC2):c.2756T>G (p.Leu919Ter)

SNV
Germline

Chr5:149026976

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

1 SubmittersRCV004785879

NM_014845.6(FIG4):c.1389-2A>G

SNV
Germline

Chr6:109763935

Likely pathogenic

Charcot-Marie-Tooth disease type 4J
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV004797323 RCV005935666

NM_000214.3(JAG1):c.2472C>A (p.Cys824Ter)

SNV
Germline

Chr20:10642588

Pathogenic

Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

1 SubmittersRCV004795575

NM_007289.4(MME):c.1715C>A (p.Ser572Ter)

SNV
Germline

Chr3:155166956

Likely pathogenic

Spinocerebellar ataxia 43
Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV004796449

NM_000166.6(GJB1):c.136G>C (p.Asp46His)

SNV
Germline

ChrX:71223843

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth Neuropathy X

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004796563 RCV005105132

NM_007289.4(MME):c.1874A>T (p.Gln625Leu)

SNV
Germline

Chr3:155168585

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV004797683

NM_025137.4(SPG11):c.969C>G (p.Tyr323Ter)

SNV
Germline

Chr15:44652167

Likely pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

1 SubmittersRCV004799034

NM_007289.4(MME):c.1601+2T>G

SNV
Germline

Chr3:155148655

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV004800839

NM_030962.4(SBF2):c.4444-1G>C

SNV
Germline

Chr11:9795958

Likely pathogenic

Charcot-Marie-Tooth disease type 4B2

Criteria Provided
Single Submitter

1 SubmittersRCV004821084

NM_001365951.3(KIF1B):c.4056G>A (p.Arg1352=)

SNV
Germline

Chr1:10360929

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004939112 RCV005040858 RCV005110411

NM_020631.6(PLEKHG5):c.2885C>A (p.Ser962Ter)

SNV
Germline

Chr1:6467951

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

1 SubmittersRCV005032592

NM_020631.6(PLEKHG5):c.2347C>T (p.Gln783Ter)

SNV
Germline

Chr1:6468489

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

1 SubmittersRCV005032600

NM_002180.3(IGHMBP2):c.1235+2T>C

SNV
Germline

Chr11:68929359

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005004653

NM_002180.3(IGHMBP2):c.2098A>T (p.Lys700Ter)

SNV
Germline

Chr11:68936578

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005004655

NM_002180.3(IGHMBP2):c.2533C>T (p.Gln845Ter)

SNV
Germline

Chr11:68937013

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005006669

NM_016156.6(MTMR2):c.1877C>G (p.Ser626Ter)

SNV
Germline

Chr11:95835345

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005006748 RCV005112537

NM_016156.6(MTMR2):c.1327C>T (p.Arg443Ter)

SNV
Germline

Chr11:95845012

Likely pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

1 SubmittersRCV005004757

NM_016156.6(MTMR2):c.357+1G>A

SNV
Germline

Chr11:95862271

Likely pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

1 SubmittersRCV005006750

NM_016156.6(MTMR2):c.187-2A>G

SNV
Germline

Chr11:95865678

Likely pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

1 SubmittersRCV005004760

NM_001365088.1(SLC12A6):c.2162+2T>G

SNV
Germline

Chr15:34242100

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Single Submitter

1 SubmittersRCV005009533

NM_001365088.1(SLC12A6):c.1119-1G>C

SNV
Germline

Chr15:34252385

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease, axonal, IIa 2II

Criteria Provided
Single Submitter

1 SubmittersRCV005009535

NM_025137.4(SPG11):c.7159C>T (p.Gln2387Ter)

SNV
Germline

Chr15:44563294

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009596

NM_025137.4(SPG11):c.7096G>T (p.Glu2366Ter)

SNV
Germline

Chr15:44564602

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009597

NM_025137.4(SPG11):c.6859C>T (p.Gln2287Ter)

SNV
Germline

Chr15:44565994

Pathogenic

Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009599 RCV006484617

NM_025137.4(SPG11):c.6477+1G>C

SNV
Germline

Chr15:44570524

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009603

NM_025137.4(SPG11):c.6343+2T>C

SNV
Germline

Chr15:44572681

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009604

NM_025137.4(SPG11):c.6271C>T (p.Gln2091Ter)

SNV
Germline

Chr15:44572755

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009605 RCV005112587

NM_025137.4(SPG11):c.6253C>T (p.Gln2085Ter)

SNV
Germline

Chr15:44572773

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009607

NM_025137.4(SPG11):c.6206-2A>G

SNV
Germline

Chr15:44572822

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009608

NM_025137.4(SPG11):c.6194C>A (p.Ser2065Ter)

SNV
Germline

Chr15:44573558

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009609

NM_025137.4(SPG11):c.5677G>T (p.Glu1893Ter)

SNV
Germline

Chr15:44584003

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009612

NM_025137.4(SPG11):c.4002-2A>C

SNV
Germline

Chr15:44596945

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009621

NM_025137.4(SPG11):c.3146-1G>C

SNV
Germline

Chr15:44610986

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009625

NM_025137.4(SPG11):c.3039-1G>A

SNV
Germline

Chr15:44613537

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009626

NM_025137.4(SPG11):c.2863G>T (p.Glu955Ter)

SNV
Germline

Chr15:44615538

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009629

NM_025137.4(SPG11):c.1820C>G (p.Ser607Ter)

SNV
Germline

Chr15:44629304

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009632

NM_000263.4(NAGLU):c.764+1G>T

SNV
Germline

Chr17:42538756

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

1 SubmittersRCV005020232

NM_000263.4(NAGLU):c.804G>A (p.Trp268Ter)

SNV
Germline

Chr17:42540989

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

1 SubmittersRCV005020233

NM_022489.4(INF2):c.1378C>A (p.Pro460Thr)

SNV
Germline

Chr14:104707645

Conflicting classifications of pathogenicity

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005007089

NM_022489.4(INF2):c.2649T>G (p.Phe883Leu)

SNV
Germline

Chr14:104712866

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005007106

NM_022489.4(INF2):c.2875C>G (p.Pro959Ala)

SNV
Germline

Chr14:104713306

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005007109

NM_022489.4(INF2):c.641G>T (p.Arg214Leu)

SNV
Germline

Chr14:104703428

Likely pathogenic

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E

Criteria Provided
Single Submitter

1 SubmittersRCV005007073

NM_002437.5(MPV17):c.279+1G>C

SNV
Germline

Chr2:27312679

Likely pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Single Submitter

1 SubmittersRCV005024401

NM_002437.5(MPV17):c.71-1G>A

SNV
Germline

Chr2:27313110

Likely pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Single Submitter

1 SubmittersRCV005024402

NM_018972.4(GDAP1):c.77T>G (p.Leu26Arg)

SNV
Germline

Chr8:74350538

Likely pathogenic

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease recessive intermediate A

Criteria Provided
Single Submitter

1 SubmittersRCV005051693

NM_000214.3(JAG1):c.96G>C (p.Ser32=)

SNV
Germline

Chr20:10672992

Conflicting classifications of pathogenicity

Arteriohepatic dysplasia
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005002406 RCV005023783 RCV006484574

NM_024577.4(SH3TC2):c.2305G>T (p.Glu769Ter)

SNV
Germline

Chr5:149027427

Pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Single Submitter

1 SubmittersRCV005043186

NM_024577.4(SH3TC2):c.734G>A (p.Trp245Ter)

SNV
Germline

Chr5:149040675

Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Single Submitter

1 SubmittersRCV005035380

NM_024577.4(SH3TC2):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr5:149052157

Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Single Submitter

1 SubmittersRCV005043189

NM_006096.4(NDRG1):c.892-1G>C

SNV
Germline

Chr8:133242075

Likely pathogenic

Charcot-Marie-Tooth disease type 4D

Criteria Provided
Single Submitter

1 SubmittersRCV005051561

NM_006096.4(NDRG1):c.807+2T>C

SNV
Germline

Chr8:133247873

Likely pathogenic

Charcot-Marie-Tooth disease type 4D

Criteria Provided
Single Submitter

1 SubmittersRCV005048296

NM_006096.4(NDRG1):c.516G>A (p.Trp172Ter)

SNV
Germline

Chr8:133256798

Likely pathogenic

Charcot-Marie-Tooth disease type 4D

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005048298

NM_003172.4(SURF1):c.834-2A>G

SNV
Germline

Chr9:133351984

Likely pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Single Submitter

1 SubmittersRCV005048946

NM_003172.4(SURF1):c.833+2T>C

SNV
Germline

Chr9:133352059

Likely pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Single Submitter

1 SubmittersRCV005045921

NM_003172.4(SURF1):c.751+5G>T

SNV
Germline

Chr9:133352441

Likely pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Single Submitter

1 SubmittersRCV005048947

NM_003172.4(SURF1):c.469C>T (p.Gln157Ter)

SNV
Germline

Chr9:133353795

Likely pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Single Submitter

1 SubmittersRCV005045924

NM_003172.4(SURF1):c.229G>A (p.Gly77Arg)

SNV
Germline

Chr9:133354835

Likely pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Single Submitter

1 SubmittersRCV005048949

NM_003172.4(SURF1):c.54+1G>T

SNV
Germline

Chr9:133356399

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Single Submitter

1 SubmittersRCV005045925

NM_003172.4(SURF1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr9:133356452

Likely pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Single Submitter

1 SubmittersRCV005045926

NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)

SNV
Germline

Chr11:62691391

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005050869 RCV005105378

NM_000701.8(ATP1A1):c.620C>T (p.Ser207Phe)

SNV
Germline

Chr1:116388756

Likely pathogenic

Charcot-Marie-tooth disease, axonal, type 2DD

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004999142

NM_001303256.3(MORC2):c.1397A>G (p.Asp466Gly)

SNV
Unknown

Chr22:30937684

Pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

1 SubmittersRCV005054118

NM_170707.4(LMNA):c.28A>T (p.Thr10Ser)

SNV
Germline

Chr1:156114946

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005074809

NM_001376.5(DYNC1H1):c.925C>T (p.Arg309Cys)

SNV
Germline

Chr14:101980514

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

1 SubmittersRCV005072858

NM_018972.4(GDAP1):c.246C>T (p.His82=)

SNV
Germline

Chr8:74351402

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005080971 RCV006565920

NM_005572.4(LMNA):c.1714C>G (p.Arg572Gly)

SNV
Germline

Chr1:156137759

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005088761 RCV005632822

NM_016156.6(MTMR2):c.1720G>T (p.Glu574Ter)

SNV
Germline

Chr11:95836198

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005083510

NM_001376.5(DYNC1H1):c.6995G>T (p.Arg2332Leu)

SNV
Germline

Chr14:102012451

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

1 SubmittersRCV005107073

NM_001376.5(DYNC1H1):c.9928A>G (p.Met3310Val)

SNV
Germline

Chr14:102032316

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

1 SubmittersRCV005107087

NM_006158.5(NEFL):c.171C>G (p.Tyr57Ter)

SNV
Germline

Chr8:24956345

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

1 SubmittersRCV005122893

NM_170707.4(LMNA):c.29C>G (p.Thr10Ser)

SNV
Germline

Chr1:156114947

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005113678

NM_170707.4(LMNA):c.689A>C (p.Asp230Ala)

SNV
Germline

Chr1:156134854

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005113686

NM_170707.4(LMNA):c.746G>C (p.Arg249Pro)

SNV
Germline

Chr1:156134911

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005113687

NM_170707.4(LMNA):c.1336G>A (p.Asp446Asn)

SNV
Germline

Chr1:156136392

Likely pathogenic

Charcot-Marie-Tooth disease type 2
Hepatocellular carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005113693 RCV005937788

NM_006158.5(NEFL):c.720C>G (p.Tyr240Ter)

SNV
Germline

Chr8:24955796

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

1 SubmittersRCV005117302

NM_001122955.4(BSCL2):c.553C>T (p.Gln185Ter)

SNV
Germline

Chr11:62694645

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005127854

NM_000304.4(PMP22):c.79-1G>A

SNV
Germline

Chr17:15259194

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

1 SubmittersRCV005126603

NM_018972.4(GDAP1):c.697G>T (p.Glu233Ter)

SNV
Germline

Chr8:74363987

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

1 SubmittersRCV005116097

NM_014845.6(FIG4):c.501C>G (p.Tyr167Ter)

SNV
Germline

Chr6:109735153

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005126032

NM_001005373.4(LRSAM1):c.304C>T (p.Gln102Ter)

SNV
Germline

Chr9:127459054

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

1 SubmittersRCV005125036

NM_014845.6(FIG4):c.382G>T (p.Glu128Ter)

SNV
Germline

Chr6:109727201

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005125568

NM_181882.3(PRX):c.2252C>G (p.Ser751Ter)

SNV
Germline

Chr19:40396100

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005131780

NM_030962.4(SBF2):c.2331G>A (p.Trp777Ter)

SNV
Germline

Chr11:9856490

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005142640

NM_016156.6(MTMR2):c.934C>T (p.Gln312Ter)

SNV
Germline

Chr11:95849733

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005142791

NM_001370298.3(FGD4):c.601C>T (p.Gln201Ter)

SNV
Germline

Chr12:32582057

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005153189

NM_000530.8(MPZ):c.645+2T>C

SNV
Germline

Chr1:161306106

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

1 SubmittersRCV005138783

NM_170707.4(LMNA):c.811-1G>C

SNV
Germline

Chr1:156135186

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005138148

NM_024577.4(SH3TC2):c.732-1G>T

SNV
Germline

Chr5:149040678

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005136164

NM_000304.4(PMP22):c.319+2T>G

SNV
Germline

Chr17:15239469

Pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

1 SubmittersRCV005127365

NM_001122955.4(BSCL2):c.963G>A (p.Trp321Ter)

SNV
Germline

Chr11:62691322

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005137601

NM_001605.3(AARS1):c.1567C>T (p.Gln523Ter)

SNV
Germline

Chr16:70262450

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005135236

NM_016156.6(MTMR2):c.1474A>T (p.Arg492Ter)

SNV
Germline

Chr11:95841622

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005142178

NM_014845.6(FIG4):c.290-1G>C

SNV
Germline

Chr6:109727108

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005153029

NM_014845.6(FIG4):c.1388+2T>C

SNV
Germline

Chr6:109762209

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005151301

NM_170707.4(LMNA):c.1110C>A (p.Asp370Glu)

SNV
Germline

Chr1:156136074

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005154405

NM_170707.4(LMNA):c.271A>C (p.Thr91Pro)

SNV
Germline

Chr1:156115189

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005158563 RCV005623578

NM_002047.4(GARS1):c.2173C>G (p.Leu725Val)

SNV
Germline

Chr7:30633813

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005151754 RCV005338570

NM_170707.4(LMNA):c.833C>T (p.Ala278Val)

SNV
Germline

Chr1:156135209

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005163845

NM_014845.6(FIG4):c.2043T>G (p.Tyr681Ter)

SNV
Germline

Chr6:109786396

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005147103

NM_030962.4(SBF2):c.2911C>T (p.Gln971Ter)

SNV
Germline

Chr11:9846979

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005160342

NM_181882.3(PRX):c.2447C>G (p.Ser816Ter)

SNV
Germline

Chr19:40395905

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005167971

NM_001605.3(AARS1):c.1493-2A>G

SNV
Germline

Chr16:70262526

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005165122

NM_170707.4(LMNA):c.991C>G (p.Arg331Gly)

SNV
Germline

Chr1:156135955

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005172856

NM_001605.3(AARS1):c.2425C>T (p.Gln809Ter)

SNV
Germline

Chr16:70254014

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005170698

NM_001005373.4(LRSAM1):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr9:127455612

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

1 SubmittersRCV005180289

NM_001376.5(DYNC1H1):c.6229G>A (p.Asp2077Asn)

SNV
Germline

Chr14:102010283

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2O
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005188063 RCV006270005

NM_014845.6(FIG4):c.1294C>T (p.Arg432Ter)

SNV
Germline

Chr6:109762113

Pathogenic

Charcot-Marie-Tooth disease type 4
FIG4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005191709 RCV005230865

NM_001005373.4(LRSAM1):c.322-2A>G

SNV
Germline

Chr9:127461171

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

1 SubmittersRCV005184025

NM_030962.4(SBF2):c.4547C>G (p.Ser1516Ter)

SNV
Germline

Chr11:9795854

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005177261

NM_006158.5(NEFL):c.417C>A (p.Tyr139Ter)

SNV
Germline

Chr8:24956099

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

1 SubmittersRCV005190053

NM_001370298.3(FGD4):c.2452C>T (p.Gln818Ter)

SNV
Germline

Chr12:32638793

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005189757

NM_030962.4(SBF2):c.4009G>T (p.Glu1337Ter)

SNV
Germline

Chr11:9812678

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005203682

NM_001376.5(DYNC1H1):c.12684+5G>T

SNV
Germline

Chr14:102044050

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

1 SubmittersRCV005201728

NM_014845.6(FIG4):c.1750+1G>T

SNV
Germline

Chr6:109766896

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005186887

NM_006158.5(NEFL):c.556G>T (p.Glu186Ter)

SNV
Germline

Chr8:24955960

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005200677 RCV005867310

NM_018706.7(DHTKD1):c.1671+1G>A

SNV
Germline

Chr10:12097997

Likely pathogenic

2-aminoadipic 2-oxoadipic aciduria
Charcot-Marie-Tooth disease axonal type 2Q
2-aminoadipic 2-oxoadipic aciduria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005200793 RCV005410040

NM_001005373.4(LRSAM1):c.1573C>T (p.Arg525Ter)

SNV
Germline

Chr9:127492871

Pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

1 SubmittersRCV005197220

NM_170707.4(LMNA):c.1058A>G (p.Gln353Arg)

SNV
Germline

Chr1:156136022

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005198057 RCV005358257

NM_000530.8(MPZ):c.235-2A>C

SNV
Germline

Chr1:161306923

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

1 SubmittersRCV005198063

NM_001370298.3(FGD4):c.1993G>T (p.Glu665Ter)

SNV
Germline

Chr12:32625015

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005204856

NM_024577.4(SH3TC2):c.1224G>A (p.Trp408Ter)

SNV
Germline

Chr5:149028508

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005206888

NM_006158.5(NEFL):c.223C>T (p.Gln75Ter)

SNV
Germline

Chr8:24956293

Pathogenic

Charcot-Marie-Tooth disease type 2E

Criteria Provided
Single Submitter

1 SubmittersRCV005206853

NM_024577.4(SH3TC2):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr5:149044605

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

1 SubmittersRCV005208317

NM_000166.6(GJB1):c.379A>C (p.Ile127Leu)

SNV
Germline

ChrX:71224086

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

1 SubmittersRCV005208519

NM_002180.3(IGHMBP2):c.1757-1G>A

SNV
Germline

Chr11:68936236

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005211502

NM_002180.3(IGHMBP2):c.1351T>C (p.Trp451Arg)

SNV
Germline

Chr11:68933414

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005219581

NM_000263.4(NAGLU):c.978C>A (p.Tyr326Ter)

SNV
Germline

Chr17:42541163

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

1 SubmittersRCV005217803

NM_000263.4(NAGLU):c.1933C>T (p.Gln645Ter)

SNV
Germline

Chr17:42543939

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

1 SubmittersRCV005210928

NM_000263.4(NAGLU):c.1835G>A (p.Ser612Asn)

SNV
Germline

Chr17:42543841

Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

1 SubmittersRCV005211245

NM_000263.4(NAGLU):c.2020C>A (p.Arg674Ser)

SNV
Germline

Chr17:42544026

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

1 SubmittersRCV005215224

NM_000263.4(NAGLU):c.1083G>T (p.Trp361Cys)

SNV
Germline

Chr17:42543089

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

1 SubmittersRCV005215413

NM_000263.4(NAGLU):c.1A>T (p.Met1Leu)

SNV
Germline

Chr17:42536273

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

1 SubmittersRCV005221522

NM_000263.4(NAGLU):c.531+1G>C

SNV
Germline

Chr17:42537546

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

2 SubmittersRCV005221523 RCV005610818

NM_020631.6(PLEKHG5):c.1053C>G (p.Tyr351Ter)

SNV
Germline

Chr1:6472554

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

1 SubmittersRCV005214875

NM_000263.4(NAGLU):c.2038G>T (p.Glu680Ter)

SNV
Germline

Chr17:42544044

Pathogenic

Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B

Criteria Provided
Single Submitter

1 SubmittersRCV005212430

NM_020631.6(PLEKHG5):c.2173G>T (p.Glu725Ter)

SNV
Germline

Chr1:6469118

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

1 SubmittersRCV005212621

NM_002180.3(IGHMBP2):c.1694A>G (p.Asp565Gly)

SNV
Germline

Chr11:68935360

Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

1 SubmittersRCV005211862

NM_020631.6(PLEKHG5):c.1131+1G>T

SNV
Germline

Chr1:6471757

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

1 SubmittersRCV005220309

NM_022489.4(INF2):c.750G>T (p.Glu250Asp)

SNV
Germline

Chr14:104706083

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease dominant intermediate E
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005224743 RCV005867330

NM_000263.4(NAGLU):c.1914C>G (p.Tyr638Ter)

SNV
Germline

Chr17:42543920

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

1 SubmittersRCV005224813

NM_024577.4(SH3TC2):c.279+1G>T

SNV
Germline

Chr5:149047861

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

1 SubmittersRCV005229680

NM_001005373.4(LRSAM1):c.2101C>T (p.Gln701Ter)

SNV
Unknown

Chr9:127502828

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

No Assertion Criteria Provided

1 SubmittersRCV005233168

NM_007126.5(VCP):c.410C>T (p.Pro137Leu)

SNV
Germline

Chr9:35066710

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2Y
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005238702 RCV006567145

NM_007289.4(MME):c.1188+428A>G

SNV
Germline

Chr3:155142758

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

rs_61758195

1 SubmittersRCV005241311

NM_000166.6(GJB1):c.763C>T (p.Gln255Ter)

SNV
Germline

ChrX:71224470

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

1 SubmittersRCV005245577

NM_001365951.3(KIF1B):c.3130-15C>G

SNV
Germline

Chr1:10337059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005251016 RCV006489465

NM_007289.4(MME):c.1981-2A>G

SNV
Germline

Chr3:155172115

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV005252612

NM_006096.4(NDRG1):c.390-1G>A

SNV
Germline

Chr8:133258427

Pathogenic

Charcot-Marie-Tooth disease type 4D

Criteria Provided
Single Submitter

1 SubmittersRCV005253445

NM_018082.6(POLR3B):c.1370C>T (p.Ser457Phe)

SNV
Germline

Chr12:106430379

Likely pathogenic

Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Criteria Provided
Single Submitter

1 SubmittersRCV005257950

NM_025137.4(SPG11):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr15:44657213

Likely pathogenic

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Single Submitter

1 SubmittersRCV005356832

NM_001365951.3(KIF1B):c.2115+6523G>A

SNV
Germline

Chr1:10303769

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005398203 RCV006264481

NM_014845.6(FIG4):c.1150A>T (p.Arg384Ter)

SNV
Germline

Chr6:109760262

Likely pathogenic

Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Single Submitter

1 SubmittersRCV005400350

NM_170707.4(LMNA):c.1004G>C (p.Arg335Pro)

SNV
Germline

Chr1:156135968

Likely pathogenic

Charcot-Marie-Tooth disease type 2B1
Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV005410223

NM_014874.4(MFN2):c.785C>T (p.Ala262Val)

SNV
Germline

Chr1:11999064

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005410233 RCV006275217

NM_007289.4(MME):c.2081G>A (p.Trp694Ter)

SNV
Germline

Chr3:155172540

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

2 SubmittersRCV005410238

NM_016156.6(MTMR2):c.1085C>A (p.Ser362Ter)

SNV
Germline

Chr11:95847808

Likely pathogenic

Charcot-Marie-Tooth disease type 4B1

Criteria Provided
Single Submitter

1 SubmittersRCV005410242

NM_001303256.3(MORC2):c.755G>T (p.Arg252Leu)

SNV
Germline

Chr22:30941502

Pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

1 SubmittersRCV005411195

NM_001005373.4(LRSAM1):c.2046+1G>C

SNV
Germline

Chr9:127501144

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

1 SubmittersRCV005412128

NM_170707.4(LMNA):c.184C>A (p.Arg62Ser)

SNV
Germline

Chr1:156115102

Pathogenic/Likely pathogenic

Primary familial dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005431457 RCV006479775

NM_001376.5(DYNC1H1):c.13801A>G (p.Lys4601Glu)

SNV
Germline

Chr14:102050187

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005551534 RCV006568248

NM_001358263.1(HK1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr10:69288745

Likely pathogenic

Charcot-Marie-Tooth disease type 4G

Criteria Provided
Single Submitter

1 SubmittersRCV005604911

NM_006096.4(NDRG1):c.63+1G>C

SNV
Germline

Chr8:133284248

Likely pathogenic

Charcot-Marie-Tooth disease type 4D

No Assertion Criteria Provided

1 SubmittersRCV005607344

NM_014874.4(MFN2):c.610G>C (p.Asp204His)

SNV
Germline

Chr1:11998780

Likely pathogenic

Charcot-Marie-Tooth disease type 2A2

No Assertion Criteria Provided

1 SubmittersRCV006444407

NM_007289.4(MME):c.655-1G>C

SNV
Germline

Chr3:155118745

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV006444409 RCV006484842

NM_025137.4(SPG11):c.5616G>A (p.Trp1872Ter)

SNV
Germline

Chr15:44584064

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2X

No Assertion Criteria Provided

1 SubmittersRCV006444432

NM_004984.4(KIF5A):c.1251C>G (p.Tyr417Ter)

SNV
Germline

Chr12:57570120

Likely pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

1 SubmittersRCV005625730

NM_014845.6(FIG4):c.1434+1G>T

SNV
Germline

Chr6:109763983

Likely pathogenic

Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Single Submitter

1 SubmittersRCV005625075

NM_001005373.4(LRSAM1):c.1357C>T (p.Gln453Ter)

SNV
Germline

Chr9:127489453

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2P

Criteria Provided
Single Submitter

1 SubmittersRCV005636516

NM_170707.4(LMNA):c.134A>T (p.Tyr45Phe)

SNV
Germline

Chr1:156115052

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005635710 RCV006613603

NM_020631.6(PLEKHG5):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:6477569

Pathogenic

Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

1 SubmittersRCV005646806

NM_021625.5(TRPV4):c.629T>C (p.Ile210Thr)

SNV
Germline

Chr12:109803074

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005760687 RCV006489755

NM_001376.5(DYNC1H1):c.884C>T (p.Pro295Leu)

SNV
Germline

Chr14:101980473

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005820417 RCV006569163

NM_001376.5(DYNC1H1):c.2019G>T (p.Trp673Cys)

SNV
Germline

Chr14:101986244

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

1 SubmittersRCV005865041

NM_001376.5(DYNC1H1):c.10893C>T (p.Asn3631=)

SNV
Germline

Chr14:102036627

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005885679 RCV006490050

NM_007289.4(MME):c.400C>T (p.Gln134Ter)

SNV
Germline

Chr3:155116520

Pathogenic

Charcot-Marie-Tooth disease axonal type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV005886000

NM_000166.6(GJB1):c.230G>A (p.Trp77Ter)

SNV
Germline

ChrX:71223937

Likely pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

1 SubmittersRCV005880670

NM_020631.6(PLEKHG5):c.1800+1G>A

SNV
Germline

Chr1:6470235

Likely pathogenic

Glioma susceptibility 1
Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

2 SubmittersRCV006165212 RCV006569300

NM_001365951.3(KIF1B):c.1036A>T (p.Arg346Ter)

SNV
Germline

Chr1:10276398

Pathogenic

Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Single Submitter

1 SubmittersRCV006249108

NM_018972.4(GDAP1):c.311-23A>G

SNV
Germline

Chr8:74360114

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2K

Criteria Provided
Single Submitter

1 SubmittersRCV006261918

NM_001540.5(HSPB1):c.555C>G (p.Phe185Leu)

SNV
Germline

Chr7:76304110

Conflicting classifications of pathogenicity

Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2F

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006379062 RCV006475678

NM_001376.5(DYNC1H1):c.5433+6T>C

SNV
Germline

Chr14:102005242

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006445135 RCV006480378

NM_002180.3(IGHMBP2):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr11:68908186

Pathogenic

Charcot-Marie-Tooth disease axonal type 2S

Criteria Provided
Single Submitter

1 SubmittersRCV006449311

NM_000263.4(NAGLU):c.468G>C (p.Trp156Cys)

SNV
Germline

Chr17:42537482

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

1 SubmittersRCV006454886

NM_001303256.3(MORC2):c.1219T>C (p.Cys407Arg)

SNV
Germline

Chr22:30937965

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2Z

Criteria Provided
Single Submitter

1 SubmittersRCV006454910

NM_000530.8(MPZ):c.660T>A (p.Tyr220Ter)

SNV
Germline

Chr1:161305963

Likely pathogenic

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 2J

Criteria Provided
Single Submitter

rs_754516430

1 SubmittersRCV006454950

NM_018122.5(DARS2):c.1006C>T (p.Arg336Cys)

SNV
Germline

Chr1:173839532

Pathogenic

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LL

No Assertion Criteria Provided

1 SubmittersRCV006455077

NM_018122.5(DARS2):c.713C>T (p.Ser238Phe)

SNV
Germline

Chr1:173836989

Pathogenic

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LL
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV006455078 RCV006480417

NM_018122.5(DARS2):c.1508C>T (p.Pro503Leu)

SNV
Germline

Chr1:173853512

Pathogenic

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LL

No Assertion Criteria Provided

1 SubmittersRCV006455080

NM_030962.4(SBF2):c.5232-1G>A

SNV
Germline

Chr11:9784439

Likely pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV006490555

NM_014845.6(FIG4):c.108T>G (p.Tyr36Ter)

SNV
Germline

Chr6:109715119

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV006510434

NM_030962.4(SBF2):c.1792C>T (p.Gln598Ter)

SNV
Germline

Chr11:9962025

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV006510696

NM_170707.4(LMNA):c.356+2T>C

SNV
Germline

Chr1:156115276

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006508196

NM_000304.4(PMP22):c.323T>C (p.Leu108Pro)

SNV
Germline

Chr17:15231077

Likely pathogenic

Charcot-Marie-Tooth disease, type I

Criteria Provided
Single Submitter

1 SubmittersRCV006510045

NM_001376.5(DYNC1H1):c.3016-11T>A

SNV
Germline

Chr14:101994173

Pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

1 SubmittersRCV006512163

NM_014874.4(MFN2):c.175+1G>A

SNV
Germline

Chr1:11989344

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006513178

NM_014874.4(MFN2):c.2182C>T (p.Gln728Ter)

SNV
Germline

Chr1:12009704

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006497924

NM_170707.4(LMNA):c.357-1G>C

SNV
Germline

Chr1:156130616

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006524179

NM_030962.4(SBF2):c.2581G>T (p.Glu861Ter)

SNV
Germline

Chr11:9852705

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV006530246

NM_170707.4(LMNA):c.1489-1G>C

SNV
Germline

Chr1:156137112

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006530421

NM_001122955.4(BSCL2):c.1006-2A>T

SNV
Germline

Chr11:62691143

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006526115

NM_018972.4(GDAP1):c.637G>T (p.Glu213Ter)

SNV
Germline

Chr8:74362996

Pathogenic

Charcot-Marie-Tooth disease type 4A

Criteria Provided
Single Submitter

1 SubmittersRCV006515986

NM_030962.4(SBF2):c.3800G>A (p.Trp1267Ter)

SNV
Germline

Chr11:9817018

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV006544164

NM_001376.5(DYNC1H1):c.2356C>T (p.Arg786Cys)

SNV
Germline

Chr14:101986581

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

1 SubmittersRCV006534713

NM_014845.6(FIG4):c.995G>A (p.Trp332Ter)

SNV
Germline

Chr6:109743228

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV006542327

NM_000166.6(GJB1):c.453T>A (p.Tyr151Ter)

SNV
Unknown

ChrX:71224160

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1

Criteria Provided
Single Submitter

1 SubmittersRCV006553812

NM_170707.4(LMNA):c.566G>C (p.Arg189Pro)

SNV
Germline

Chr1:156134455

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006570955

NM_170707.4(LMNA):c.1127A>G (p.Tyr376Cys)

SNV
Germline

Chr1:156136091

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006581122

NM_020631.6(PLEKHG5):c.1314C>G (p.Tyr438Ter)

SNV
Germline

Chr1:6471068

Pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

1 SubmittersRCV006602323

NM_000263.4(NAGLU):c.2024G>A (p.Trp675Ter)

SNV
Germline

Chr17:42544030

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

1 SubmittersRCV006598473

NM_000263.4(NAGLU):c.531+1G>T

SNV
Germline

Chr17:42537546

Pathogenic

Mucopolysaccharidosis, MPS-III-B
Charcot-Marie-Tooth disease axonal type 2V

Criteria Provided
Single Submitter

1 SubmittersRCV006598522

NM_020631.6(PLEKHG5):c.2062C>T (p.Gln688Ter)

SNV
Germline

Chr1:6469229

Pathogenic

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4

Criteria Provided
Single Submitter

1 SubmittersRCV006595612

NM_002180.3(IGHMBP2):c.257-1G>T

SNV
Germline

Chr11:68908144

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV006595972

NM_020631.6(PLEKHG5):c.302+1G>T

SNV
Germline

Chr1:6475046

Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C

Criteria Provided
Single Submitter

1 SubmittersRCV006592902

NM_001376.5(DYNC1H1):c.3268A>G (p.Arg1090Gly)

SNV
Germline

Chr14:101994784

Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Single Submitter

1 SubmittersRCV006626315

NM_170707.4(LMNA):c.253C>T (p.Leu85Phe)

SNV
Germline

Chr1:156115171

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006625712

NM_170707.4(LMNA):c.496C>G (p.Arg166Gly)

SNV
Germline

Chr1:156130756

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006625717

NM_170707.4(LMNA):c.862G>A (p.Ala288Thr)

SNV
Germline

Chr1:156135238

Likely pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006625718

NM_170707.4(LMNA):c.1589T>A (p.Leu530His)

SNV
Germline

Chr1:156137213

Pathogenic

Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006625729

NM_024577.4(SH3TC2):c.3426T>A (p.Tyr1142Ter)

SNV
Germline

Chr5:149008903

Pathogenic

Charcot-Marie-Tooth disease type 4

Criteria Provided
Single Submitter

1 SubmittersRCV006627822