Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)	SNV Germline	Chr14:67782840	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 15 Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114476	rs_118204049	6 SubmittersRCV000000785 RCV001035676 RCV001555238
NM_015346.4(ZFYVE26):c.5485-1G>A	SNV Germline	Chr14:67769731	Pathogenic	Hereditary spastic paraplegia 15	No Assertion Criteria Provided		rs_1594898627	1 SubmittersRCV000000786
NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter)	SNV Germline	Chr14:67802241	Pathogenic	Hereditary spastic paraplegia 15	No Assertion Criteria Provided	CA114478	rs_118204050	1 SubmittersRCV000000788
NM_024306.5(FA2H):c.786+1G>A	SNV Germline	Chr16:74718987	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 35 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1567633766	3 SubmittersRCV000001098 RCV002512633
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)	SNV Germline	Chr16:74774653	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 35	Criteria Provided Conflicting Classifications	CA251671	rs_121918217	4 SubmittersRCV000001099
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	Criteria Provided Multiple Submitters No Conflicts	CA249690	rs_118203963	12 SubmittersRCV000001168 RCV000202373 RCV000414837 RCV000518418 RCV002354145
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	Criteria Provided Single Submitter	CA249693	rs_267607084	3 SubmittersRCV000001170 RCV000202382 RCV000193032
NM_025137.4(SPG11):c.442+1G>C	SNV Germline	Chr15:44660431	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA339868	rs_312262715	8 SubmittersRCV000001173 RCV001092501 RCV004689398
NM_025137.4(SPG11):c.7152-1G>C	SNV Germline	Chr15:44563302	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA339869	rs_200079802	3 SubmittersRCV000001174
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	SNV Germline	Chr15:44584057	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA339870	rs_141848292	12 SubmittersRCV000001175 RCV000413953 RCV002345222 RCV002482813
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	SNV Germline	Chr8:125056817	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 8 Hereditary spastic paraplegia Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339873	rs_80338867	10 SubmittersRCV000001220 RCV001847561 RCV002227984 RCV003242958 RCV003320543
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)	SNV Germline	Chr8:125057574	Pathogenic	Hereditary spastic paraplegia 8 Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome	Criteria Provided Multiple Submitters No Conflicts	CA251713	rs_80338866	3 SubmittersRCV000001221 RCV001851527
NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp)	SNV Germline	Chr8:125061192	Pathogenic	Hereditary spastic paraplegia 8	No Assertion Criteria Provided	CA339874	rs_80338865	2 SubmittersRCV000001222
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)	SNV Germline	Chr10:97749494	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 33 not specified Spastic tetraparesis Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA114909	rs_35077384	9 SubmittersRCV000001352 RCV000407569 RCV000415084 RCV000471962 RCV001723530
NM_001371279.1(REEP1):c.183-2A>G	SNV Germline	Chr2:86254816	Pathogenic	Hereditary spastic paraplegia 31	Criteria Provided Single Submitter	CA115244	rs_387906264	2 SubmittersRCV000001937
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	SNV Germline	Chr2:86217057	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 31 not specified Neuronopathy, distal hereditary motor, type 5B Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases REEP1-related disorder	Criteria Provided Conflicting Classifications	CA115245	rs_377637314	11 SubmittersRCV000001938 RCV000200803 RCV001333150 RCV001703411 RCV001847563 RCV003258655 RCV003904794
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)	SNV Germline	Chr2:86282216	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 31 Condition: not provided Spastic paraplegia Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115247	rs_121918262	8 SubmittersRCV000001939 RCV000713454 RCV001003951 RCV001847564 RCV004955248
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)	SNV Germline	Chr2:86252037	Pathogenic	Hereditary spastic paraplegia 31 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115251	rs_121918263	7 SubmittersRCV000001940 RCV001847565 RCV002243614
NM_020435.4(GJC2):c.108C>G (p.Ile36Met)	SNV Germline	Chr1:228157866	Pathogenic	Hereditary spastic paraplegia 44	Criteria Provided Single Submitter	CA115336	rs_75469429	2 SubmittersRCV000002159
NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg)	SNV Germline	Chr15:22786790	Pathogenic	Hereditary spastic paraplegia 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115591	rs_104894496	3 SubmittersRCV000002628 RCV004719611
NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)	SNV Germline	Chr15:22812252	Pathogenic	Hereditary spastic paraplegia 6	Criteria Provided Single Submitter	CA115593	rs_104894490	2 SubmittersRCV000002629
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	SNV Germline	Chr15:22812252	Pathogenic	Hereditary spastic paraplegia 6 Hereditary spastic paraplegia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA115595	rs_104894490	14 SubmittersRCV000002631 RCV000516051 RCV000713477 RCV001003981
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	SNV Germline	Chr14:50613343	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Condition: not provided Neuropathy, hereditary sensory, type 1D Hereditary spastic paraplegia 3A Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA340228	rs_119476046	22 SubmittersRCV000004594 RCV000215830 RCV000850530 RCV001003978 RCV001847579
NM_015915.5(ATL1):c.776C>A (p.Ser259Tyr)	SNV Germline	Chr14:50614425	Pathogenic	Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA253127	rs_119476047	2 SubmittersRCV000004595
NM_015915.5(ATL1):c.773A>G (p.His258Arg)	SNV Germline	Chr14:50614422	Pathogenic	Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA340230	rs_119476048	3 SubmittersRCV000004596
NM_015915.5(ATL1):c.650G>A (p.Arg217Gln)	SNV Germline	Chr14:50613278	Pathogenic	Hereditary spastic paraplegia 3A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253129	rs_119476049	4 SubmittersRCV000004597 RCV001725929
NM_015915.5(ATL1):c.1222A>G (p.Met408Val)	SNV Germline	Chr14:50628133	Pathogenic	Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA340232	rs_28939094	4 SubmittersRCV000004599
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)	SNV Germline	Chr14:50628154	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204596	rs_119476050	13 SubmittersRCV000004600 RCV000190652 RCV001090532
NM_015915.5(ATL1):c.470T>G (p.Leu157Trp)	SNV Germline	Chr14:50591587	Pathogenic	Hereditary spastic paraplegia 3A	No Assertion Criteria Provided	CA340234	rs_119476051	2 SubmittersRCV000004601
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 Neuronopathy, distal hereditary motor, type 5A Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5C Abnormal central motor function Berardinelli-Seip congenital lipodystrophy BSCL2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116912	rs_137852973	13 SubmittersRCV000004803 RCV000235980 RCV000547334 RCV000755016 RCV001270681 RCV001813950 RCV003311647 RCV004766979
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	SNV Germline	Chr13:23336372	Pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA340433	rs_281865118	12 SubmittersRCV000005848 RCV001268308 RCV001847584 RCV001851681
NM_014946.4(SPAST):c.1085C>G (p.Ser362Cys)	SNV Germline	Chr2:32116199	Pathogenic	Hereditary spastic paraplegia 4	No Assertion Criteria Provided	CA253546	rs_121908509	1 SubmittersRCV000006011
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr)	SNV Germline	Chr2:32136898	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253548	rs_121908510	3 SubmittersRCV000006012 RCV004589497
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)	SNV Germline	Chr2:32141905	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Spastic paraparesis Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA253551	rs_121908511	12 SubmittersRCV000006014 RCV000415256 RCV000523541 RCV001847585
NM_014946.4(SPAST):c.1688-2A>G	SNV Germline	Chr2:32147216	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253553	rs_587777752	4 SubmittersRCV000006015 RCV001091365
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)	SNV Germline	Chr2:32136877	Pathogenic	Hereditary spastic paraplegia 4 Tics Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253555	rs_121908512	5 SubmittersRCV000006018 RCV001849258 RCV004719628
NM_014946.4(SPAST):c.1728+1G>C	SNV Germline	Chr2:32147259	Pathogenic	Hereditary spastic paraplegia 4	No Assertion Criteria Provided	CA253557	rs_587777754	1 SubmittersRCV000006019
NM_014946.4(SPAST):c.1245+4A>G	SNV Germline	Chr2:32128483	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253558	rs_587777755	3 SubmittersRCV000006020 RCV003225018
NM_014946.4(SPAST):c.1031T>A (p.Ile344Lys)	SNV Germline	Chr2:32116145	Pathogenic	Hereditary spastic paraplegia 4	No Assertion Criteria Provided	CA253560	rs_121908513	1 SubmittersRCV000006022
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)	SNV Germline	Chr2:32127006	Pathogenic	Hereditary spastic paraplegia 4 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA253562	rs_121908514	3 SubmittersRCV000006023 RCV001847586
NM_014946.4(SPAST):c.1409A>T (p.Asp470Val)	SNV Germline	Chr2:32136964	Pathogenic	Hereditary spastic paraplegia 4	No Assertion Criteria Provided	CA253564	rs_121908516	1 SubmittersRCV000006024
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)	SNV Germline	Chr2:32063965	Conflicting classifications of pathogenicity	Spastic paraplegia 4, modifier of Condition: not provided Hereditary spastic paraplegia 4 Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA117671	rs_121908517	8 SubmittersRCV000006026 RCV000584902 RCV000845266 RCV001847588 RCV004998076
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly)	SNV Germline	Chr2:32145004	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Single Submitter	CA253566	rs_121908518	2 SubmittersRCV000006027
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)	SNV Germline	Chr2:32128450	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA253568	rs_587777757	7 SubmittersRCV000006029 RCV000497406 RCV001847589
NM_014946.4(SPAST):c.1335C>A (p.Ser445Arg)	SNV Germline	Chr2:32136890	Pathogenic	Hereditary spastic paraplegia 4	No Assertion Criteria Provided	CA253570	rs_121908519	1 SubmittersRCV000006030
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)	SNV Germline	Chr8:64604753	Pathogenic	Hereditary spastic paraplegia 5A Congenital bile acid synthesis defect 3 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA117938	rs_72554620	5 SubmittersRCV000006474 RCV000006473 RCV000800899
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)	SNV Germline	Chr8:64604827	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 5A Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA210940	rs_121908610	4 SubmittersRCV000006475 RCV001847590 RCV003750776
NM_004820.5(CYP7B1):c.169G>A (p.Gly57Arg)	SNV Germline	Chr8:64624493	Pathogenic	Hereditary spastic paraplegia 5A	No Assertion Criteria Provided	CA210941	rs_121908614	1 SubmittersRCV000006476
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)	SNV Germline	Chr8:64596913	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 5A Spastic paraplegia Condition: not provided Hereditary spastic paraplegia CYP7B1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210942	rs_121908611	7 SubmittersRCV000006477 RCV000206595 RCV000329074 RCV001847591 RCV003894794
NM_004820.5(CYP7B1):c.647T>C (p.Phe216Ser)	SNV Germline	Chr8:64615894	Pathogenic	Hereditary spastic paraplegia 5A	No Assertion Criteria Provided	CA210943	rs_121908612	1 SubmittersRCV000006478
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)	SNV Germline	Chr8:64615716	Pathogenic	Hereditary spastic paraplegia 5A Condition: not provided Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA210944	rs_121908613	12 SubmittersRCV000006479 RCV000260437 RCV000515995 RCV000553161
NM_004820.5(CYP7B1):c.1408T>A (p.Phe470Ile)	SNV Germline	Chr8:64596755	Pathogenic	Hereditary spastic paraplegia 5A	No Assertion Criteria Provided	CA210946	rs_267606758	1 SubmittersRCV000006480
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	SNV Germline	Chr8:64596707	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 5A Spastic paraplegia Condition: not provided Hereditary spastic paraplegia Hereditary spastic paraplegia 5A Congenital bile acid synthesis defect 3 CYP7B1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210948	rs_116171274	23 SubmittersRCV000006481 RCV000197085 RCV000290486 RCV000516130 RCV002476935 RCV003398453
NM_004733.4(SLC33A1):c.339T>G (p.Ser113Arg)	SNV Germline	Chr3:155853659	Pathogenic	Hereditary spastic paraplegia 42	No Assertion Criteria Provided	CA117967	rs_121909484	1 SubmittersRCV000006506
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)	SNV Germline	Chr19:7556507	Pathogenic	Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome	No Assertion Criteria Provided	CA118368	rs_121434415	2 SubmittersRCV000006984 RCV001559128
NM_001166114.2(PNPLA6):c.2783G>A (p.Arg928His)	SNV Germline	Chr19:7555041	Pathogenic	Hereditary spastic paraplegia 39	No Assertion Criteria Provided	CA118370	rs_121434416	1 SubmittersRCV000006985
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)	SNV Germline	Chr12:57569015	Pathogenic	Hereditary spastic paraplegia 10	Criteria Provided Single Submitter	CA118520	rs_121434441	2 SubmittersRCV000007208
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	SNV Germline	Chr12:57569274	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 10 Spastic paraplegia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA118521	rs_121434442	7 SubmittersRCV000007209 RCV001387529 RCV000993045 RCV001847593
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)	SNV Germline	Chr12:57569263	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia KIF5A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA118522	rs_121434443	4 SubmittersRCV000007210 RCV000518461 RCV000534416 RCV004766984
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)	SNV Germline	Chr12:57569648	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 10 Spastic paraplegia KIF5A-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA118523	rs_121434444	5 SubmittersRCV000007211 RCV001066186 RCV004737140 RCV003456358 RCV001175553
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)	SNV Germline	Chr16:89553932	Likely pathogenic	Hereditary spastic paraplegia 7	Criteria Provided Single Submitter	CA253965	rs_121918357	2 SubmittersRCV000007217
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	SNV Germline	Chr16:89510539	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Proximal spinal muscular atrophy Hereditary spastic paraplegia SPG7-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253966	rs_121918358	23 SubmittersRCV000007218 RCV000200640 RCV000664258 RCV001847594 RCV004752689 RCV004814852
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	SNV Germline	Chr16:89531961	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided SPG7-related disorder Inborn genetic diseases Retinal dystrophy Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA253968	rs_141659620	35 SubmittersRCV000007221 RCV000198037 RCV004752690 RCV002512867 RCV004814853 RCV001847595
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)	SNV Germline	Chr16:89550579	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253969	rs_267607085	7 SubmittersRCV000007222 RCV000996411
NC_012920.1(MT-TK):m.8344A>G	SNV Germline	ChrMT:8344	Pathogenic	MERRF syndrome Parkinson disease, mitochondrial Leigh syndrome Condition: not provided Mitochondrial disease MELAS syndrome MT-TK-related mitochondrial disorder MT-TK-related disorder Complex hereditary spastic paraplegia	Reviewed By Expert Panel	CA254836	rs_118192098	14 SubmittersRCV000010192 RCV000010194 RCV000010193 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290 RCV004766996
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)	SNV Germline	ChrX:103785621	Pathogenic/Likely pathogenic	Pelizaeus-Merzbacher disease Hereditary spastic paraplegia 2	Criteria Provided Multiple Submitters No Conflicts	CA255678	rs_11543022	3 SubmittersRCV000011824 RCV001851798
NM_000533.5(PLP1):c.560T>C (p.Ile187Thr)	SNV Germline	ChrX:103787904	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Multiple Submitters No Conflicts	CA255701	rs_132630288	3 SubmittersRCV000011834 RCV004595482
NM_000533.5(PLP1):c.3G>A (p.Met1Ile)	SNV Germline	ChrX:103776998	Pathogenic	Pelizaeus-Merzbacher disease, mild Hereditary spastic paraplegia 2	Criteria Provided Single Submitter	CA121352	rs_132630290	2 SubmittersRCV000011836 RCV001851799
NM_000533.5(PLP1):c.710T>C (p.Phe237Ser)	SNV Germline	ChrX:103789346	Likely pathogenic	Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Single Submitter	CA255707	rs_132630291	2 SubmittersRCV000011838 RCV004595483
NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)	SNV Germline	ChrX:103786707	Pathogenic/Likely pathogenic	Pelizaeus-Merzbacher disease, atypical Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Multiple Submitters No Conflicts	CA121354	rs_132630292	3 SubmittersRCV000011839 RCV000801130 RCV004595484
NM_000533.5(PLP1):c.509C>T (p.Ser170Phe)	SNV Germline	ChrX:103787853	Likely pathogenic	Hereditary spastic paraplegia 2 Condition: not provided	Criteria Provided Single Submitter	CA255710	rs_132630294	2 SubmittersRCV000011841 RCV001786328
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp)	SNV Germline	ChrX:103786682	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Conflicting Classifications	CA255713	rs_132630295	3 SubmittersRCV000011847 RCV004595485
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	SNV Germline	Chr15:89327201	Pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Spinocerebellar ataxia with epilepsy Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Condition: not provided POLG-Related Spectrum Disorders Mitochondrial disease 6 conditions Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b POLG-related disorder Mitochondrial DNA depletion syndrome 4b Tip-toe gait Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Hereditary spastic paraplegia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Neurodevelopmental delay Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA123140	rs_113994095	45 SubmittersRCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000184011 RCV000188658 RCV000347876 RCV000508942 RCV000515354 RCV001004604 RCV001095683 RCV001198082 RCV001376079 RCV001731286 RCV001847600 RCV001813983 RCV002273931 RCV002316195
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	SNV Germline	Chr15:89321792	Pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Condition: not provided Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Mitochondrial DNA depletion syndrome 4b 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 POLG-Related Spectrum Disorders Hereditary spastic paraplegia 6 conditions Mitochondrial disease Inborn genetic diseases POLG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123144	rs_113994098	37 SubmittersRCV000014449 RCV000014450 RCV000014451 RCV000014452 RCV000188580 RCV001027839 RCV000678386 RCV002054437 RCV003230362 RCV000363602 RCV001847601 RCV000515163 RCV002272018 RCV002313707 RCV003231103
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	SNV Germline	Chr15:89330184	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 1 Progressive sclerosing poliodystrophy Condition: not provided not specified POLG-Related Spectrum Disorders Global developmental delay Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Tip-toe gait Abnormality of the nervous system POLG-related disorder Hereditary spastic paraplegia Mitochondrial disease Hypertrophic cardiomyopathy Inborn genetic diseases Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy See cases	Criteria Provided Conflicting Classifications	CA123142	rs_11394094	47 SubmittersRCV000014448 RCV000014447 RCV000020484 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001642225 RCV001678594 RCV001813985 RCV001813742 RCV001847602 RCV002272019 RCV002319423 RCV002313708 RCV003458331 RCV004584325
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	SNV Germline	Chr15:89325639	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 4b Mitochondrial DNA depletion syndrome 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 not specified Progressive sclerosing poliodystrophy Global developmental delay Condition: not provided Mitochondrial disease Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Tip-toe gait Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis POLG-related disorder Hereditary spastic paraplegia Abnormality of the nervous system Hypertrophic cardiomyopathy Inborn genetic diseases Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy See cases	Criteria Provided Conflicting Classifications	CA123146	rs_113994096	50 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000408293 RCV000415307 RCV000427845 RCV000508752 RCV001004602 RCV001610290 RCV001642226 RCV001813743 RCV001847603 RCV001813986 RCV002319424 RCV002313709 RCV003458332 RCV004584326
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	SNV Germline	Chr15:89323460	Pathogenic/Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Condition: not provided Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Mitochondrial disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Inborn genetic diseases Hereditary spastic paraplegia Tip-toe gait POLG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA201029	rs_121918054	32 SubmittersRCV000014467 RCV000188568 RCV000233045 RCV000370280 RCV000508744 RCV000768053 RCV001004601 RCV001813987 RCV002316196 RCV001847605 RCV003318542 RCV003985721
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	SNV Germline	Chr20:58905443	Pathogenic	Pseudohypoparathyroidism Hereditary spastic paraplegia 4 Condition: not provided Pseudohypoparathyroidism type I A	Criteria Provided Multiple Submitters No Conflicts	CA126062	rs_137854532	6 SubmittersRCV000017286 RCV001729350 RCV002054444 RCV002288507
NM_002156.5(HSPD1):c.292G>A (p.Val98Ile)	SNV Germline	Chr2:197497275	Pathogenic	Hereditary spastic paraplegia 13	Criteria Provided Single Submitter	CA127251	rs_66468541	2 SubmittersRCV000019112
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 Spectrum Disorders Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA292863	rs_2307437	17 SubmittersRCV000127555 RCV000468571 RCV000710190 RCV001121509 RCV001847613 RCV002371780 RCV004732552
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)	SNV Germline	Chr14:50591584	Pathogenic	Hereditary spastic paraplegia 3A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342181	rs_137852657	4 SubmittersRCV000020721 RCV000713455
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)	SNV Germline	Chr2:240788118	Pathogenic	Intellectual disability, autosomal dominant 9 PEHO syndrome Condition: not provided Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory, type 2C Hereditary spastic paraplegia 30 KIF1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA212601	rs_387906799	10 SubmittersRCV000023087 RCV000207102 RCV000235916 RCV000690609 RCV004541014
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)	SNV Germline	Chr7:100104125	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 50 Spastic paraplegia AP-4 deficiency syndrome	Criteria Provided Conflicting Classifications	CA342728	rs_387906838	4 SubmittersRCV000023191 RCV001849279 RCV002272028
NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)	SNV Germline	Chr14:50587992	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory, type 1D Condition: not provided Hereditary spastic paraplegia 3A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA129352	rs_200314808	6 SubmittersRCV000023543 RCV000236565 RCV000543629 RCV002415427
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)	SNV Germline	Chr14:50628157	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Inborn genetic diseases Hereditary spastic paraplegia Condition: not provided Neuropathy, hereditary sensory, type 1D	Criteria Provided Multiple Submitters No Conflicts	CA259834	rs_387906941	7 SubmittersRCV000023545 RCV002513195 RCV001847621 RCV002285257 RCV004767019
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)	SNV Germline	Chr16:74719071	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 35 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA259927	rs_387907039	5 SubmittersRCV000023855 RCV001797590 RCV002509169
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)	SNV Germline	Chr16:74727290	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 35 Condition: not provided Spastic paraplegia Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications	CA259930	rs_387907040	6 SubmittersRCV000023857 RCV000483483 RCV002513207 RCV003317044
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)	SNV Germline	Chr14:67772109	Pathogenic	Hereditary spastic paraplegia 15 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA129542	rs_387907057	3 SubmittersRCV000023921 RCV001852032
NM_031448.6(C19orf12):c.-2C>T	SNV Germline	Chr19:29708415	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Condition: not provided Abnormality of iron homeostasis Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA342784	rs_397514477	11 SubmittersRCV000024152 RCV000426086 RCV001004003 RCV003743545 RCV004700277
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)	SNV Germline	Chr19:29702966	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Dystonic disorder Tremor Mental deterioration Adult-onset night blindness Peripheral visual field loss Hereditary spastic paraplegia 43 Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA345637	rs_515726205	9 SubmittersRCV000024153 RCV000414809 RCV000528859 RCV001781312 RCV003230372
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	SNV Germline	Chr19:29702747	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 4 Dystonic disorder Tremor Mental deterioration Adult-onset night blindness Peripheral visual field loss Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 5A Condition: not provided not specified Hereditary spastic paraplegia Hereditary spastic paraplegia 43	Criteria Provided Conflicting Classifications	CA259994	rs_146170087	15 SubmittersRCV000024154 RCV000415210 RCV000509226 RCV000714889 RCV000553096 RCV001844017 RCV001847623 RCV001083182
NM_024306.5(FA2H):c.707T>C (p.Phe236Ser)	SNV Germline	Chr16:74719067	Pathogenic	Hereditary spastic paraplegia 35	No Assertion Criteria Provided	CA260036	rs_387907172	1 SubmittersRCV000024321
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)	SNV Germline	Chr2:240773246	Likely pathogenic	Hereditary spastic paraplegia 30 Spastic paraplegia 30b, autosomal recessive	Criteria Provided Single Submitter	CA130024	rs_387907259	2 SubmittersRCV000030681 RCV004584597
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)	SNV Germline	Chr3:100748182	Pathogenic/Likely pathogenic	Hereditary motor and sensory neuropathy, Okinawa type Condition: not provided Hereditary motor and sensory neuropathy, Okinawa type Hereditary spastic paraplegia 57 See cases Amyotrophic Lateral Sclerosis with Sensory Neuropathy	Criteria Provided Multiple Submitters No Conflicts	CA130077	rs_207482230	7 SubmittersRCV000030736 RCV000218755 RCV000642397 RCV002251934 RCV001095428
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)	SNV Germline	Chr12:57568999	Pathogenic	Hereditary spastic paraplegia 10 Spastic paraplegia Condition: not provided Myoclonus, intractable, neonatal	Criteria Provided Multiple Submitters No Conflicts	CA130084	rs_387907285	7 SubmittersRCV000030758 RCV000205648 RCV000756292 RCV004767023
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)	SNV Germline	Chr12:57576825	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA130085	rs_387907286	4 SubmittersRCV000030759 RCV000498777 RCV001852613 RCV004525859
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)	SNV Germline	Chr12:57567515	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 10 Spastic paraplegia Condition: not provided Myoclonus, intractable, neonatal KIF5A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130087	rs_387907287	12 SubmittersRCV000030760 RCV000168349 RCV001682718 RCV001196631 RCV002468980
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)	SNV Germline	Chr12:57569275	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 10 Hereditary spastic paraplegia Spastic paraplegia Condition: not provided Demyelinating peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts	CA130088	rs_387907288	10 SubmittersRCV000030761 RCV000515919 RCV001061322 RCV001268862 RCV002051649
NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu)	SNV Germline	Chr12:57567608	Likely pathogenic	Hereditary spastic paraplegia 10 Condition: not provided	Criteria Provided Single Submitter	CA130089	rs_387907289	2 SubmittersRCV000030762 RCV004719665
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)	SNV Germline	Chr4:107945426	Pathogenic/Likely pathogenic	Global developmental delay Neurodegeneration Spastic paraplegia Hereditary spastic paraplegia 56 Condition: not provided CYP2U1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130341	rs_397514513	11 SubmittersRCV000162142 RCV000162185 RCV000032696 RCV000442087 RCV004751232
NM_183075.3(CYP2U1):c.1139A>G (p.Glu380Gly)	SNV Germline	Chr4:107947388	Pathogenic	Hereditary spastic paraplegia 56	No Assertion Criteria Provided	CA130342	rs_397514514	1 SubmittersRCV000032697
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)	SNV Germline	Chr4:107945263	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 56	Criteria Provided Multiple Submitters No Conflicts	CA130343	rs_397514515	3 SubmittersRCV000032699
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)	SNV Germline	Chr4:107950250	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 56 Spastic paraplegia Hereditary spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130344	rs_141431913	6 SubmittersRCV000032700 RCV000814689 RCV001847627 RCV002264909
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)	SNV Germline	Chr12:123256924	Pathogenic	Hereditary spastic paraplegia 55 Condition: not provided Spastic paraplegia Combined oxidative phosphorylation defect type 7	Criteria Provided Multiple Submitters No Conflicts	CA130375	rs_397514539	4 SubmittersRCV000032782 RCV000733240 RCV002228073
NM_001160148.2(DDHD1):c.1766G>A (p.Arg589Gln)	SNV Germline	Chr14:53062943	Pathogenic	Hereditary spastic paraplegia 28	No Assertion Criteria Provided		rs_1446744416	1 SubmittersRCV000032875
NM_001160148.2(DDHD1):c.1249C>T (p.Gln417Ter)	SNV Germline	Chr14:53091825	Pathogenic	Hereditary spastic paraplegia 28	No Assertion Criteria Provided		rs_2139675094	1 SubmittersRCV000032877
NM_001160148.2(DDHD1):c.2522-1G>T	SNV Germline	Chr14:53046950	Pathogenic	Hereditary spastic paraplegia 28	No Assertion Criteria Provided		rs_2139806225	1 SubmittersRCV000032878
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	SNV Germline	Chr8:38253642	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 54 Obesity Global developmental delay Generalized epilepsy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA130449	rs_375168720	13 SubmittersRCV000032883 RCV000449619 RCV001569601 RCV001847628 RCV004975267
NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter)	SNV Germline	Chr8:38252216	Pathogenic	Hereditary spastic paraplegia 54	Criteria Provided Multiple Submitters No Conflicts	CA130451	rs_373856119	4 SubmittersRCV000032884
NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)	SNV Germline	Chr8:38245752	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 54 Condition: not provided	No Assertion Criteria Provided	CA130453	rs_398122826	4 SubmittersRCV000032885 RCV001529426
NM_152415.3(VPS37A):c.1146A>T (p.Lys382Asn)	SNV Germline	Chr8:17286379	Pathogenic	Hereditary spastic paraplegia 53	No Assertion Criteria Provided	CA213061	rs_211694394	1 SubmittersRCV000032956
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	SNV Germline	Chr15:44651712	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA344293	rs_312262723	6 SubmittersRCV000034170
NM_025137.4(SPG11):c.1457-2A>G	SNV Germline	Chr15:44649013	Pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA344297	rs_312262726	4 SubmittersRCV000034173 RCV001847631
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)	SNV Germline	Chr15:44633561	Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Single Submitter	CA344304	rs_312262732	2 SubmittersRCV000034180 RCV003441725
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.2198T>G (p.Leu733Ter)	SNV Germline	Chr15:44626377	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	No Assertion Criteria Provided	CA277006	rs_312262739	2 SubmittersRCV000034188 RCV000192703
NM_025137.4(SPG11):c.2316+1G>A	SNV Germline	Chr15:44622727	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia SPG11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344315	rs_312262740	9 SubmittersRCV000034189 RCV000713416 RCV001847632 RCV004748544
NM_025137.4(SPG11):c.2444+1G>C	SNV Germline	Chr15:44622219	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA344317	rs_312262743	3 SubmittersRCV000034191
NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)	SNV Germline	Chr15:44621771	Pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia	Criteria Provided Single Submitter	CA344320	rs_312262745	2 SubmittersRCV000034194 RCV004799754
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	Criteria Provided Multiple Submitters No Conflicts	CA277361	rs_312262709	9 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)	SNV Germline	Chr15:44620191	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA344327	rs_312262748	2 SubmittersRCV000034199
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	Criteria Provided Multiple Submitters No Conflicts	CA344329	rs_312262749	7 SubmittersRCV000034200 RCV001836722 RCV003458191
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.349G>T (p.Glu117Ter)	SNV Germline	Chr15:44660525	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA344333	rs_312262711	2 SubmittersRCV000034207
NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)	SNV Germline	Chr15:44589312	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Single Submitter	CA344349	rs_312262762	2 SubmittersRCV000034220 RCV004794351
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)	SNV Germline	Chr15:44584210	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344354	rs_312262767	5 SubmittersRCV000034225 RCV000731318
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	SNV Germline	Chr15:44574934	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277266	rs_200793464	4 SubmittersRCV000034234 RCV000194146 RCV000255514
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	SNV Germline	Chr15:44573661	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA344370	rs_147713329	11 SubmittersRCV000034241 RCV001092496 RCV001331384 RCV001847636
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)	SNV Germline	Chr15:44573595	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11	Criteria Provided Conflicting Classifications	CA344372	rs_149003934	7 SubmittersRCV000034242 RCV000594035 RCV002467534 RCV002467533 RCV002477051
NM_025137.4(SPG11):c.6206-1G>C	SNV Germline	Chr15:44572821	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA344374	rs_312262778	2 SubmittersRCV000034243
NM_025137.4(SPG11):c.6477+4A>G	SNV Germline	Chr15:44570521	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	CA344377	rs_312262780	6 SubmittersRCV000034246 RCV001847637 RCV002467536 RCV002467535
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	Criteria Provided Multiple Submitters No Conflicts	CA344384	rs_312262785	10 SubmittersRCV000034254 RCV001546365 RCV001847638 RCV002362611 RCV004767030
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)	SNV Germline	Chr15:44564675	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA344390	rs_80338869	6 SubmittersRCV000034258 RCV000421146 RCV001847639
NM_025137.4(SPG11):c.869+1G>A	SNV Germline	Chr15:44657094	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA344399	rs_312262721	4 SubmittersRCV000034268
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)	SNV Germline	Chr15:44648976	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344461	rs_312262728	5 SubmittersRCV000034301 RCV001092499
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)	SNV Germline	Chr9:35738811	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 46 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA130873	rs_398123012	3 SubmittersRCV000034369 RCV000515985
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)	SNV Germline	Chr9:35741758	Pathogenic	Hereditary spastic paraplegia 46 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130874	rs_398123013	4 SubmittersRCV000034370 RCV001268639
NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter)	SNV Germline	Chr9:35740833	Pathogenic	Spastic paraplegia Hereditary spastic paraplegia 46	Criteria Provided Multiple Submitters No Conflicts	CA130876	rs_398123014	3 SubmittersRCV001043691 RCV000034373
NM_020944.3(GBA2):c.2618G>A (p.Arg873His)	SNV Germline	Chr9:35737335	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 46 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA130878	rs_398123015	3 SubmittersRCV000034374 RCV000515888
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Hereditary spastic paraplegia Inborn genetic diseases Dysarthria Gait ataxia Cerebral cortical atrophy Spastic paraparesis Optic nerve hypoplasia Intellectual disability Spastic ataxia Sensorimotor neuropathy Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 SPG7-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA090884	rs_61755320	62 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)	SNV Germline	Chr9:92719122	Conflicting classifications of pathogenicity	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Hereditary spastic paraplegia 3A	No Assertion Criteria Provided	CA143972	rs_398123031	2 SubmittersRCV000049278 RCV003311674
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)	SNV Germline	Chr14:50628155	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 3A Condition: not provided	Criteria Provided Conflicting Classifications	CA264213	rs_397514712	4 SubmittersRCV000050231 RCV000480817
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)	SNV Germline	Chr12:57630182	Pathogenic	Hereditary spastic paraplegia 26	Criteria Provided Multiple Submitters No Conflicts	CA144547	rs_398122382	4 SubmittersRCV000054420
NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)	SNV Germline	Chr12:57631225	Pathogenic	Hereditary spastic paraplegia 26 Condition: not provided	Criteria Provided Single Submitter	CA10575594	rs_879255241	2 SubmittersRCV000054422 RCV000760467
NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)	SNV Germline	Chr12:57627704	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 26	No Assertion Criteria Provided	CA10575595	rs_879255242	2 SubmittersRCV000054423
NM_015375.3(DSTYK):c.654+1G>A	SNV Germline	Chr1:205187417	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Condition: not provided Hereditary spastic paraplegia 23 DSTYK-related disorder	Criteria Provided Conflicting Classifications	CA1353006	rs_201091809	4 SubmittersRCV000054497 RCV001853078 RCV003387748 RCV003905015
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	SNV Germline	Chr15:89326947	Conflicting classifications of pathogenicity	Mitochondrial disease not specified Idiopathic camptocormia Condition: not provided Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders Tip-toe gait Inborn genetic diseases Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA204012	rs_61752783	24 SubmittersRCV000055881 RCV000118011 RCV000186556 RCV000223970 RCV000229511 RCV000768289 RCV001117969 RCV001352901 RCV002311532 RCV001847644 RCV003985725
NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala)	SNV Germline	Chr8:125055601	Pathogenic	Hereditary spastic paraplegia 8	No Assertion Criteria Provided	CA345045	rs_397515564	2 SubmittersRCV000055943
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)	SNV Germline	Chr12:57576834	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia Hereditary spastic paraplegia not specified KIF5A-related disorder	Criteria Provided Conflicting Classifications	CA6653063	rs_140281678	9 SubmittersRCV000389116 RCV000522245 RCV001084410 RCV001847646 RCV001287992 RCV004549495
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)	SNV Germline	Chr12:123256945	Likely pathogenic	Hereditary spastic paraplegia 55	Criteria Provided Single Submitter	CA145384	rs_398122365	2 SubmittersRCV000074452
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)	SNV Germline	Chr19:29708260	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43 Condition: not provided	Criteria Provided Conflicting Classifications	CA145387	rs_376103979	6 SubmittersRCV000074454 RCV000074453 RCV000493663
NM_007175.8(ERLIN2):c.499-1G>T	SNV Germline	Chr8:37749793	Pathogenic	Hereditary spastic paraplegia 18	No Assertion Criteria Provided	CA145505	rs_398123002	1 SubmittersRCV000077785
NM_020944.3(GBA2):c.1780G>C (p.Asp594His)	SNV Germline	Chr9:35739017	Likely pathogenic	Hereditary spastic paraplegia 46	Criteria Provided Single Submitter	CA145524	rs_398123064	2 SubmittersRCV000077800
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)	SNV Germline	ChrX:153866778	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208427	rs_36021462	13 SubmittersRCV000194324 RCV000439917 RCV001083170 RCV001847649 RCV002313749
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala)	SNV Germline	ChrX:103789373	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Multiple Submitters No Conflicts	CA221114	rs_398123467	3 SubmittersRCV000079102 RCV000794114 RCV004595494
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)	SNV Germline	ChrX:74422049	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Spastic paraplegia Hereditary spastic paraplegia Inborn genetic diseases SLC16A2-related disorder	Criteria Provided Conflicting Classifications	CA222960	rs_145061343	8 SubmittersRCV000514434 RCV001251643 RCV001087210 RCV001847654 RCV002362728 RCV003905062
NM_001271803.2(REEP2):c.107T>A (p.Val36Glu)	SNV Germline	Chr5:138441386	Pathogenic	Hereditary spastic paraplegia 72	No Assertion Criteria Provided	CA149705	rs_483352923	1 SubmittersRCV003444057
NM_001351169.2(NT5C2):c.85C>T (p.Arg29Ter)	SNV Germline	Chr10:103174874	Pathogenic	Hereditary spastic paraplegia 45 Condition: not provided	Criteria Provided Single Submitter	CA214457	rs_587777173	2 SubmittersRCV000087268 RCV001310575
NM_001351169.2(NT5C2):c.989-1G>T	SNV Germline	Chr10:103093310	Pathogenic	Hereditary spastic paraplegia 45	No Assertion Criteria Provided	CA10575623	rs_886037657	1 SubmittersRCV000087270
NM_001351169.2(NT5C2):c.445A>T (p.Arg149Ter)	SNV Germline	Chr10:103101271	Pathogenic	Hereditary spastic paraplegia 45	No Assertion Criteria Provided	CA214459	rs_587777174	1 SubmittersRCV000087271
NM_001351169.2(NT5C2):c.175+1G>A	SNV Germline	Chr10:103139405	Pathogenic	Hereditary spastic paraplegia 45	Criteria Provided Single Submitter	CA10575624	rs_886037658	2 SubmittersRCV000087272
NM_006070.6(TFG):c.316C>T (p.Arg106Cys)	SNV Germline	Chr3:100728759	Pathogenic	Hereditary spastic paraplegia 57 Hereditary motor and sensory neuropathy, Okinawa type Hereditary spastic paraplegia 57 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA150664	rs_587777175	6 SubmittersRCV000087273 RCV001038327 RCV001549766 RCV002321583
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile)	SNV Germline	Chr19:7556502	Pathogenic	Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39	Criteria Provided Single Submitter	CA150705	rs_587777181	2 SubmittersRCV000087297 RCV001854508
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)	SNV Germline	Chr19:7557185	Conflicting classifications of pathogenicity	Ataxia-hypogonadism-choroidal dystrophy syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Hereditary spastic paraplegia 39	Criteria Provided Conflicting Classifications	CA150708	rs_587777182	3 SubmittersRCV000087299 RCV001196947 RCV002515780
NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu)	SNV Germline	Chr19:7554578	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 39	No Assertion Criteria Provided	CA150712	rs_587777185	2 SubmittersRCV000087302
NM_006612.6(KIF1C):c.183G>A (p.Ser61=)	SNV Germline	Chr17:5000848	Likely pathogenic	Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Single Submitter	CA10602383	rs_886041035	2 SubmittersRCV000087325 RCV001847658
NM_001776.6(ENTPD1):c.628G>A (p.Gly210Arg)	SNV Germline	Chr10:95845411	Pathogenic	Hereditary spastic paraplegia 64	No Assertion Criteria Provided		rs_1566229309	1 SubmittersRCV000087329
NM_001776.6(ENTPD1):c.520G>T (p.Glu174Ter)	SNV Germline	Chr10:95844582	Pathogenic	Hereditary spastic paraplegia 64	No Assertion Criteria Provided	CA214471	rs_587777200	1 SubmittersRCV000087330
NM_015214.3(DDHD2):c.1057+5C>G	SNV Germline	Chr8:38245955	Pathogenic	Hereditary spastic paraplegia 54	No Assertion Criteria Provided	CA10575627	rs_886037659	1 SubmittersRCV000087336
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)	SNV Germline	Chr8:64615194	Pathogenic	Condition: not provided CYP7B1-related disorder Hereditary spastic paraplegia Hereditary spastic paraplegia 5A Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA210987	rs_587777222	9 SubmittersRCV000422978 RCV003415876 RCV004782239 RCV000106302 RCV000200232
NM_002361.4(MAG):c.1288T>G (p.Cys430Gly)	SNV Germline	Chr19:35309930	Pathogenic	Hereditary spastic paraplegia 75	No Assertion Criteria Provided	CA210989	rs_587777229	1 SubmittersRCV000106310
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 Severe neurodegenerative syndrome with lipodystrophy Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5C Congenital generalized lipodystrophy type 2	Criteria Provided Conflicting Classifications	CA200862	rs_145649423	18 SubmittersRCV000116504 RCV000174173 RCV000300263 RCV000357438 RCV000664139 RCV001082147 RCV001847675 RCV002426660 RCV002498501
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)	SNV Germline	Chr2:197498822	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary spastic paraplegia 13 Spastic paraplegia Hereditary spastic paraplegia HSPD1-related disorder	Criteria Provided Conflicting Classifications	CA231170	rs_11551349	10 SubmittersRCV000117241 RCV000195296 RCV000295232 RCV001081749 RCV001847689 RCV003982887
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)	SNV Germline	Chr2:240747320	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA153360	rs_116297894	10 SubmittersRCV000117395 RCV000760168 RCV000712145 RCV001083185 RCV001847697 RCV002312170
NM_001244008.2(KIF1A):c.3202+10C>A	SNV Germline	Chr2:240746029	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30	Criteria Provided Conflicting Classifications	CA231214	rs_190997558	5 SubmittersRCV000117404 RCV000517588 RCV001084551 RCV001136885
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)	SNV Germline	Chr2:240721033	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA153383	rs_371737085	11 SubmittersRCV000117405 RCV000712150 RCV001087763 RCV001136787 RCV002313903
NM_002693.3(POLG):c.264C>T (p.Phe88=)	SNV Germline	Chr15:89333491	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-Related Spectrum Disorders Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA288984	rs_144439703	17 SubmittersRCV000118014 RCV000227341 RCV000436920 RCV001116623 RCV001847711 RCV002313915
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	SNV Germline	Chr15:89319073	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy 6 conditions EEG abnormality POLG-Related Spectrum Disorders Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Early-onset Parkinson disease 20 Inborn genetic diseases not specified POLG-related disorder	Criteria Provided Conflicting Classifications	CA231404	rs_150233690	18 SubmittersRCV000118016 RCV000234341 RCV000515366 RCV000678829 RCV000778452 RCV001847713 RCV002243762 RCV002272131 RCV002316314 RCV003330442 RCV004732689
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)	SNV Germline	Chr15:44598705	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA155280	rs_76389165	14 SubmittersRCV000118405 RCV000233929 RCV000514902 RCV000515991
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)	SNV Germline	Chr15:44572768	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 not specified Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA231526	rs_150761878	12 SubmittersRCV000118406 RCV000461243 RCV000609000 RCV001847726 RCV002362748 RCV003915170
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	SNV Germline	Chr1:109629487	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 9 Hereditary spastic paraplegia 63 Pontocerebellar hypoplasia type 9 Hereditary spastic paraplegia 63	Criteria Provided Multiple Submitters No Conflicts	CA156218	rs_587777395	5 SubmittersRCV000119282 RCV002515805 RCV003343648
NM_021830.5(TWNK):c.639C>T (p.Gly213=)	SNV Germline	Chr10:100988849	Conflicting classifications of pathogenicity	not specified Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA302706	rs_11542130	8 SubmittersRCV000173516 RCV000301625 RCV000305599 RCV000359159 RCV000395926 RCV000676300 RCV001847741
NM_152269.5(MTRFR):c.243C>T (p.Cys81=)	SNV Germline	Chr12:123253917	Conflicting classifications of pathogenicity	not specified Condition: not provided Combined oxidative phosphorylation defect type 7 Spastic paraplegia Combined oxidative phosphorylation defect type 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA289763	rs_140411575	5 SubmittersRCV000124048 RCV000513045 RCV001088353 RCV001113855 RCV001847743
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)	SNV Germline	Chr12:123256943	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 7 Hereditary spastic paraplegia MTRFR-related disorder	Criteria Provided Conflicting Classifications	CA289765	rs_147328685	7 SubmittersRCV000124049 RCV000513336 RCV001081513 RCV001113859 RCV001847744 RCV003965041
NM_002693.3(POLG):c.2028G>A (p.Ala676=)	SNV Germline	Chr15:89324149	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292825	rs_373550219	9 SubmittersRCV000127516 RCV000263177 RCV000457002 RCV000710184 RCV001847749 RCV002415616
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)	SNV Germline	Chr15:89320894	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-Related Spectrum Disorders Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232559	rs_41546712	12 SubmittersRCV000186650 RCV000471041 RCV000712796 RCV001116417 RCV001847751 RCV002316396
NM_002693.3(POLG):c.87C>T (p.Ser29=)	SNV Germline	Chr15:89333668	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA292838	rs_587781116	8 SubmittersRCV000127532 RCV000861520 RCV001116626 RCV001288358 RCV001847752 RCV002371969 RCV003985731
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)	SNV Germline	Chr15:89319006	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292840	rs_61752780	14 SubmittersRCV000127533 RCV000338380 RCV000475971 RCV000676319 RCV001847753 RCV002312589
NM_002693.3(POLG):c.3482+6C>T	SNV Germline	Chr15:89318535	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Condition: not provided Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA292847	rs_55779802	10 SubmittersRCV000127539 RCV000316461 RCV000559092 RCV000768049 RCV000726414 RCV001847754 RCV003441747
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)	SNV Germline	Chr15:89317455	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA292854	rs_146584956	5 SubmittersRCV000127546 RCV000547592 RCV001847755 RCV003311689
NM_002693.3(POLG):c.1275C>T (p.Ala425=)	SNV Germline	Chr15:89327325	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA292871	rs_147404477	11 SubmittersRCV000127559 RCV000558064 RCV000725687 RCV001847757 RCV002371970 RCV003985732
NM_002693.3(POLG):c.1386G>A (p.Ser462=)	SNV Germline	Chr15:89327214	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA292873	rs_62640034	7 SubmittersRCV000127560 RCV000402563 RCV000758496 RCV000725999 RCV001847758 RCV003985733
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)	SNV Germline	Chr16:89531948	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA293664	rs_116319889	6 SubmittersRCV000128200 RCV000416207 RCV001081406 RCV001847760
NM_003119.4(SPG7):c.1324+10C>T	SNV Germline	Chr16:89532646	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA293666	rs_202070075	6 SubmittersRCV000128201 RCV000713480 RCV001085222 RCV001847761
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)	SNV Germline	Chr16:89546665	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA345675	rs_111475461	10 SubmittersRCV000128202 RCV000585517 RCV000989665 RCV001847762
NM_003119.4(SPG7):c.1664-11C>A	SNV Germline	Chr16:89550483	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA293669	rs_574656941	3 SubmittersRCV000128205 RCV001121647
NM_003119.4(SPG7):c.120G>A (p.Gly40=)	SNV Germline	Chr16:89508537	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA293682	rs_187330648	9 SubmittersRCV000128214 RCV000526678 RCV001847769 RCV002262748
NM_152269.5(MTRFR):c.282+2T>A	SNV Germline	Chr12:123253958	Pathogenic	Hereditary spastic paraplegia 55	No Assertion Criteria Provided	CA170632	rs_587777668	1 SubmittersRCV000133581
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SNV Germline	Chr9:132264633	Conflicting classifications of pathogenicity	Condition: not provided not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA233108	rs_151117904	14 SubmittersRCV000143819 RCV000251546 RCV000393538 RCV000302102 RCV001080640 RCV001260210 RCV001847770
NM_006070.6(TFG):c.806G>T (p.Gly269Val)	SNV Germline	Chr3:100744917	Pathogenic/Likely pathogenic	Hereditary motor and sensory neuropathy, Okinawa type Hereditary spastic paraplegia 57	No Assertion Criteria Provided	CA170881	rs_587777789	2 SubmittersRCV000144505 RCV004767089
NM_015915.5(ATL1):c.353G>A (p.Arg118Gln)	SNV Germline	Chr14:50591011	Conflicting classifications of pathogenicity	Condition: not provided Spastic Paraplegia, Recessive Hereditary spastic paraplegia 3A	Criteria Provided Conflicting Classifications	CA233267	rs_606231265	3 SubmittersRCV000144894 RCV000281684 RCV002514782
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)	SNV Germline	Chr1:113901276	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Inborn genetic diseases Hereditary spastic paraplegia 47	Criteria Provided Conflicting Classifications	CA345963	rs_376478015	6 SubmittersRCV001797056 RCV001849319 RCV002514784 RCV000145022
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)	SNV Germline	ChrX:153865714	Conflicting classifications of pathogenicity	Hydrocephalus due to aqueductal stenosis not specified Inborn genetic diseases Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA172446	rs_149737236	5 SubmittersRCV000146245 RCV000431818 RCV002453468 RCV001847778 RCV002515965
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)	SNV Germline	ChrX:74525834	Pathogenic/Likely pathogenic	Allan-Herndon-Dudley syndrome Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA272490	rs_587784384	6 SubmittersRCV000147494 RCV000224827 RCV000624288 RCV001847780 RCV001226584
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	SNV Germline	Chr2:240775863	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia Neuropathy, hereditary sensory and autonomic, type 2A Hereditary spastic paraplegia 30 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA212636	rs_672601370	14 SubmittersRCV000149482 RCV000374842 RCV000850514 RCV001847781 RCV001197350 RCV001334240 RCV000624110
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)	SNV Germline	Chr2:240783780	Pathogenic	Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30	Criteria Provided Multiple Submitters No Conflicts	CA212633	rs_672601369	8 SubmittersRCV000149481 RCV000488961 RCV000850486 RCV001813759
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)	SNV Germline	Chr2:240785066	Pathogenic	Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212627	rs_672601367	5 SubmittersRCV000149479 RCV003998180 RCV001090762
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)	SNV Germline	Chr2:240786444	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30	Criteria Provided Multiple Submitters No Conflicts	CA212621	rs_672601365	5 SubmittersRCV000149477 RCV001268733 RCV001323710 RCV001391597
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)	SNV Germline	Chr2:240789246	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Inborn genetic diseases Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Neurodevelopmental delay Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212612	rs_672601362	9 SubmittersRCV000149474 RCV000987077 RCV001267147 RCV001386834 RCV002273964 RCV002509246
NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)	SNV Germline	Chr12:57567598	Pathogenic	Hereditary spastic paraplegia 10	No Assertion Criteria Provided	CA174974	rs_690016545	1 SubmittersRCV000149510
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)	SNV Germline	ChrX:74531529	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA234943	rs_199904356	6 SubmittersRCV000153955 RCV000723786 RCV001080009 RCV002316973 RCV001847786
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)	SNV Germline	Chr1:109628692	Conflicting classifications of pathogenicity	Global developmental delay Brain malformation Seizure Hereditary spastic paraplegia 63 Pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia type 9	Criteria Provided Conflicting Classifications	CA249914	rs_192669225	2 SubmittersRCV000162110 RCV002515123 RCV003984820
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)	SNV Germline	Chr7:100105981	Pathogenic	Microcephaly CNS hypomyelination Brain atrophy Hypoplasia of the corpus callosum Global developmental delay Hereditary spastic paraplegia 50 Spastic paraplegia Condition: not provided AP4M1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA249973	rs_730882249	8 SubmittersRCV000162190 RCV000191923 RCV001849324 RCV001529845 RCV003390861
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)	SNV Germline	Chr19:29708290	Conflicting classifications of pathogenicity	Neurodegeneration Brain iron accummulation Condition: not provided Hereditary spastic paraplegia Neurodegeneration with brain iron accumulation Hereditary spastic paraplegia 43	Criteria Provided Conflicting Classifications	CA186055	rs_200133991	6 SubmittersRCV000162119 RCV000292174 RCV000516097 RCV003479030 RCV001231447
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser)	SNV Germline	Chr19:7558948	Likely pathogenic	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Hereditary spastic paraplegia 39 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA186150	rs_142422525	4 SubmittersRCV000162353 RCV001242294 RCV001268592 RCV004815256
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)	SNV Germline	Chr19:7556710	Pathogenic	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Condition: not provided Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39	Criteria Provided Multiple Submitters No Conflicts	CA186152	rs_786201037	4 SubmittersRCV000162354 RCV001092940 RCV001559129 RCV002515124
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)	SNV Germline	Chr2:240788208	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia 30	Criteria Provided Multiple Submitters No Conflicts	CA346824	rs_786200949	6 SubmittersRCV000167867 RCV000693147 RCV000762334 RCV001078152
NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser)	SNV Germline	Chr2:197493399	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 13	Criteria Provided Conflicting Classifications	CA334242	rs_149003485	2 SubmittersRCV000168086 RCV001140948
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)	SNV Germline	Chr2:32127014	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Multiple Submitters No Conflicts	CA334274	rs_786204132	2 SubmittersRCV000168104
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)	SNV Germline	Chr2:32136608	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA334245	rs_786204126	13 SubmittersRCV000168087 RCV000579036 RCV001847790
NM_014946.4(SPAST):c.1414-1G>C	SNV Germline	Chr2:32137108	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Multiple Submitters No Conflicts	CA334385	rs_786204163	2 SubmittersRCV000168164
NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu)	SNV Germline	Chr2:32144957	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Single Submitter	CA333996	rs_786204057	1 SubmittersRCV000167918
NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter)	SNV Germline	Chr2:86251959	Pathogenic	Hereditary spastic paraplegia 31	Criteria Provided Single Submitter	CA334086	rs_786204081	1 SubmittersRCV000167976
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)	SNV Germline	Chr14:67754144	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 15 not specified Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA334653	rs_151166497	7 SubmittersRCV000168361 RCV000660475 RCV000421762 RCV001079938 RCV001847797
NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)	SNV Germline	Chr14:67767816	Conflicting classifications of pathogenicity	Condition: not provided not specified Spastic paraplegia Hereditary spastic paraplegia 15 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA334145	rs_34952009	6 SubmittersRCV000168014 RCV000437692 RCV001082302 RCV001118126 RCV001847789
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)	SNV Germline	Chr14:67789467	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 15 Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA334610	rs_116890187	9 SubmittersRCV000435814 RCV000439576 RCV001115192 RCV001082969 RCV001847795
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)	SNV Germline	Chr14:67805304	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 15 not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia ZFYVE26-related disorder	Criteria Provided Conflicting Classifications	CA334758	rs_35512910	7 SubmittersRCV000279394 RCV000517033 RCV000512998 RCV001082592 RCV001847798 RCV003927560
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)	SNV Germline	Chr15:44564629	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Inborn genetic diseases SPG11-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA334634	rs_139334167	10 SubmittersRCV000710226 RCV001083164 RCV002362862 RCV003917575 RCV001847796
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)	SNV Germline	Chr15:44572802	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Condition: not provided SPG11-related disorder	Criteria Provided Conflicting Classifications	CA208997	rs_140824939	16 SubmittersRCV000194672 RCV002362861 RCV000168174 RCV001847791 RCV000512885 RCV003917574
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)	SNV Germline	Chr15:44615524	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA235929	rs_786204176	3 SubmittersRCV000168213 RCV000171235
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)	SNV Germline	Chr16:89550502	Pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Mitochondrial disease Hereditary spastic paraplegia Inborn genetic diseases SPG7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA334497	rs_369227537	15 SubmittersRCV000168257 RCV000413970 RCV000508922 RCV001847793 RCV002515187 RCV003416049
NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys)	SNV Germline	Chr19:49692361	Pathogenic	Hereditary spastic paraplegia 73	No Assertion Criteria Provided	CA199135	rs_786204767	1 SubmittersRCV000169633
NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)	SNV Germline	Chr14:50620724	Pathogenic	Condition: not provided Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA235905	rs_786205487	1 SubmittersRCV000171222 RCV003987402
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)	SNV Germline	Chr2:240788191	Conflicting classifications of pathogenicity	Condition: not provided KIF1A-related disorder Intellectual disability, autosomal dominant 9 not specified Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30	Criteria Provided Conflicting Classifications	CA236139	rs_778224699	9 SubmittersRCV000171342 RCV004737262 RCV000626085 RCV004782279 RCV000639785 RCV001391594
NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr)	SNV Germline	Chr8:125059395	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 8	Criteria Provided Conflicting Classifications	CA236317	rs_749056160	2 SubmittersRCV000171420 RCV001158802
NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)	SNV Germline	Chr9:35737405	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 46	Criteria Provided Conflicting Classifications	CA236323	rs_752274637	2 SubmittersRCV000171423 RCV003133160
NM_000533.5(PLP1):c.650G>A (p.Gly217Asp)	SNV Germline	ChrX:103788464	Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 2	Criteria Provided Single Submitter	CA236360	rs_786205605	1 SubmittersRCV000171442 RCV003984826
NM_003119.4(SPG7):c.1A>G (p.Met1Val)	SNV Germline	Chr16:89508418	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 7 SPG7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274907	rs_794726906	6 SubmittersRCV000173302 RCV001852108 RCV003416067
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	SNV Germline	Chr13:23339800	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications	CA208864	rs_146451611	16 SubmittersRCV000710206 RCV001847803 RCV000194599 RCV001082339 RCV000515329 RCV003937553
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	SNV Germline	Chr13:23330159	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA239310	rs_34382952	17 SubmittersRCV000488235 RCV000515968 RCV000674768 RCV001082378 RCV000254363
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)	SNV Germline	Chr13:23335003	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Condition: not provided Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA200741	rs_11839380	11 SubmittersRCV001084232 RCV000173862 RCV000224353 RCV001274927 RCV001847804
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)	SNV Germline	Chr14:67798195	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 15 Spastic paraplegia	Criteria Provided Conflicting Classifications	CA200844	rs_141880939	6 SubmittersRCV000174133 RCV000710227 RCV001119875 RCV001083591
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_015915.5(ATL1):c.1200G>A (p.Lys400=)	SNV Germline	Chr14:50628111	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 3A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA239909	rs_144792471	4 SubmittersRCV000724714 RCV001081632 RCV002345600
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)	SNV Germline	Chr15:44615364	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA201295	rs_111347025	14 SubmittersRCV000204165 RCV001260215 RCV000175101 RCV002262769 RCV001847810
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)	SNV Germline	Chr15:89333723	Conflicting classifications of pathogenicity	Condition: not provided 6 conditions Inborn genetic diseases Intellectual disability Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders not specified Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA302812	rs_765472726	15 SubmittersRCV000724132 RCV000763999 RCV002453618 RCV001252351 RCV000633544 RCV001116627 RCV004526626 RCV001847811 RCV003985740
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe)	SNV Germline	Chr16:89510540	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA241505	rs_770487062	3 SubmittersRCV000175748 RCV002056943
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)	SNV Germline	Chr2:240745853	Conflicting classifications of pathogenicity	not specified Condition: not provided History of neurodevelopmental disorder Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA202153	rs_143037290	15 SubmittersRCV000176875 RCV000415745 RCV000715995 RCV000987072 RCV001084426 RCV001847816
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 POLG-related disorder Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders Hereditary spastic paraplegia Inborn genetic diseases Tip-toe gait Charcot-Marie-Tooth disease axonal type 2U	Criteria Provided Conflicting Classifications	CA202319	rs_61752784	20 SubmittersRCV000177165 RCV000233823 RCV000415771 RCV000709833 RCV000768291 RCV001121511 RCV001847817 RCV002312719 RCV002227084 RCV002516726
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)	SNV Germline	Chr15:89328532	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy 6 conditions Condition: not provided POLG-Related Spectrum Disorders Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA246660	rs_145289229	14 SubmittersRCV000188651 RCV000475753 RCV000515415 RCV000710181 RCV001119511 RCV001847818 RCV002317054 RCV003985741
NM_015915.5(ATL1):c.631-7T>A	SNV Germline	Chr14:50613252	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 3A ATL1-related disorder	Criteria Provided Conflicting Classifications	CA247289	rs_186528086	4 SubmittersRCV000724713 RCV001081633 RCV003947533
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)	SNV Germline	Chr16:89531999	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia SPG7-related disorder	Criteria Provided Conflicting Classifications	CA247608	rs_114135540	7 SubmittersRCV000195569 RCV000724712 RCV001085115 RCV001847819 RCV003937635
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)	SNV Germline	Chr11:62690840	Conflicting classifications of pathogenicity	Neurologic Disorders/Seipinopathy Congenital generalized lipodystrophy Condition: not provided not specified Charcot-Marie-Tooth disease type 2 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248240	rs_144245125	11 SubmittersRCV000271246 RCV000328674 RCV000657059 RCV001001623 RCV001087807 RCV001847821 RCV002444724
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_001010867.4(IBA57):c.678A>G (p.Gln226=)	SNV Germline	Chr1:228175028	Pathogenic	Hereditary spastic paraplegia 74 Multiple mitochondrial dysfunctions syndrome 3	Criteria Provided Single Submitter	CA10575730	rs_876657407	3 SubmittersRCV000185609 RCV004767125
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)	SNV Germline	Chr15:89317433	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA316786	rs_765344513	4 SubmittersRCV000188628 RCV000758333 RCV001847833
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)	SNV Germline	Chr15:89317460	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316784	rs_369544574	10 SubmittersRCV000188627 RCV000633564 RCV000712805 RCV001847832 RCV002453696 RCV003985759
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	SNV Germline	Chr15:89320857	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Spinocerebellar atrophy Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia not specified Inborn genetic diseases MELAS syndrome Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 POLG-related disorder Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA316719	rs_201477273	20 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001808469 RCV001847830 RCV002247604 RCV002317145 RCV003232987 RCV003992217 RCV004732762 RCV004796080
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	SNV Germline	Chr15:89321780	Pathogenic	Condition: not provided Progressive sclerosing poliodystrophy 6 conditions Intellectual disability Hereditary spastic paraplegia Inborn genetic diseases POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Criteria Provided Multiple Submitters No Conflicts	CA316701	rs_144500145	15 SubmittersRCV000188581 RCV000633537 RCV000762953 RCV001252349 RCV001847829 RCV002517007 RCV004526636 RCV004786515
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)	SNV Germline	Chr15:89325591	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA316846	rs_367610201	6 SubmittersRCV000188667 RCV001348402 RCV001814096 RCV001847837 RCV003226244
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	SNV Germline	Chr15:89327198	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Lennox-Gastaut syndrome 6 conditions Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Hereditary spastic paraplegia Inborn genetic diseases not specified POLG-related disorder Mitochondrial disease Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA316834	rs_145843073	24 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001004603 RCV001027840 RCV001117972 RCV001330959 RCV001610504 RCV001847836 RCV002314743 RCV003230444 RCV004725036 RCV004786516 RCV004799199
NM_002693.3(POLG):c.830A>T (p.His277Leu)	SNV Germline	Chr15:89330106	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia Tip-toe gait Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA316810	rs_138929605	18 SubmittersRCV000188643 RCV000231645 RCV000396333 RCV000616176 RCV001004406 RCV001847834 RCV002226693 RCV002514036 RCV003235111
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)	SNV Germline	Chr15:89333630	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA316606	rs_74382477	5 SubmittersRCV000545670 RCV000676334 RCV001847824 RCV003985745
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)	SNV Germline	Chr2:240785063	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 PEHO syndrome Hereditary spastic paraplegia 30 Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Syndromic intellectual disability Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA204974	rs_797045164	11 SubmittersRCV000191020 RCV000207243 RCV001255726 RCV001269905 RCV001389787 RCV001796966 RCV002514079
NM_015915.5(ATL1):c.596T>A (p.Leu199Gln)	SNV Germline	Chr14:50595598	Pathogenic	Hereditary spastic paraplegia 3A	No Assertion Criteria Provided	CA275969	rs_797045004	1 SubmittersRCV000190502
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)	SNV Germline	Chr2:240741350	Conflicting classifications of pathogenicity	Inborn genetic diseases Spastic Paraplegia, Recessive Hereditary sensory and autonomic neuropathy type 2 Intellectual Disability, Dominant not specified Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Intellectual disability Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA204602	rs_374873057	9 SubmittersRCV000190656 RCV000311119 RCV000356396 RCV000401309 RCV000504400 RCV000639825 RCV001252530 RCV001545198 RCV001847846
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)	SNV Germline	Chr2:32127017	Pathogenic	Inborn genetic diseases Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204591	rs_797044850	5 SubmittersRCV000190649 RCV000206286 RCV000478313
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)	SNV Germline	Chr16:74726273	Pathogenic	Inborn genetic diseases Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204774	rs_765086319	5 SubmittersRCV000190745 RCV001847847 RCV002470808 RCV004998400
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)	SNV Germline	Chr2:240797715	Pathogenic/Likely pathogenic	Spastic paraplegia Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30	Criteria Provided Multiple Submitters No Conflicts	CA250361	rs_797045050	6 SubmittersRCV000191098 RCV000639795 RCV000235418 RCV004786519 RCV004767129
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)	SNV Germline	Chr14:67782971	Pathogenic	Hereditary spastic paraplegia 15 Spastic paraplegia Hereditary spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250411	rs_370828455	4 SubmittersRCV000191149 RCV000633029 RCV001847849 RCV004791315
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)	SNV Germline	Chr17:5022180	Conflicting classifications of pathogenicity	Spastic ataxia 2 Condition: not provided Hereditary spastic paraplegia KIF1C-related disorder	Criteria Provided Conflicting Classifications	CA250364	rs_148934699	9 SubmittersRCV000191099 RCV000415815 RCV001847848 RCV003917729
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)	SNV Germline	Chr17:5023573	Conflicting classifications of pathogenicity	Spastic ataxia 2 Hereditary spastic paraplegia Condition: not provided KIF1C-related disorder	Criteria Provided Conflicting Classifications	CA250366	rs_202232792	7 SubmittersRCV000191100 RCV000516061 RCV000859538 RCV003917730
NM_000533.5(PLP1):c.1A>G (p.Met1Val)	SNV Germline	ChrX:103776996	Pathogenic	Pelizaeus-Merzbacher disease Hereditary spastic paraplegia 2	Criteria Provided Multiple Submitters No Conflicts	CA276159	rs_797045064	2 SubmittersRCV000191119 RCV001857679
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)	SNV Germline	Chr7:100106278	Pathogenic	Hereditary spastic paraplegia 50 Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA346965	rs_146262009	7 SubmittersRCV000191922 RCV001849336 RCV003227707
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)	SNV Germline	Chr1:109628244	Conflicting classifications of pathogenicity	not specified Pontocerebellar hypoplasia type 9 Hereditary spastic paraplegia 63 Condition: not provided	Criteria Provided Conflicting Classifications	CA205620	rs_114727970	4 SubmittersRCV000192657 RCV000548443 RCV001725137
NM_001253852.3(AP4B1):c.114-10C>T	SNV Germline	Chr1:113902872	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 47	Criteria Provided Conflicting Classifications	CA209729	rs_200301524	2 SubmittersRCV000195118 RCV002517046
NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=)	SNV Germline	Chr2:240718061	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209750	rs_745898229	3 SubmittersRCV000195127 RCV001406543 RCV002336512
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)	SNV Germline	Chr2:240719177	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207711	rs_143815273	8 SubmittersRCV000193912 RCV000393106 RCV000871380 RCV001721255 RCV001847865 RCV002317696
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)	SNV Germline	Chr2:240719868	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory and autonomic, type 2A Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209849	rs_200141437	10 SubmittersRCV000195190 RCV000513801 RCV000538003 RCV000764392 RCV001262253 RCV002517091
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)	SNV Germline	Chr2:240721001	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205958	rs_201825284	6 SubmittersRCV000192849 RCV000766570 RCV001088066 RCV001847864 RCV004020320
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)	SNV Germline	Chr2:240722483	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia Inborn genetic diseases KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA208952	rs_771217469	5 SubmittersRCV000194644 RCV001434490 RCV001847863 RCV002327027 RCV004737300
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)	SNV Germline	Chr2:240722517	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Condition: not provided Intellectual disability, autosomal dominant 9 History of neurodevelopmental disorder Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA207477	rs_141441058	12 SubmittersRCV000193768 RCV000399209 RCV000430886 RCV000625875 RCV000717282 RCV001084017 RCV001847862 RCV004530127
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)	SNV Germline	Chr2:240722536	Conflicting classifications of pathogenicity	not specified Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA206106	rs_572923181	5 SubmittersRCV000192942 RCV001231462 RCV004786520 RCV003133168
NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met)	SNV Germline	Chr2:240740061	Conflicting classifications of pathogenicity	not specified Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209076	rs_797045652	3 SubmittersRCV000194715 RCV001062486 RCV002317694
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)	SNV Germline	Chr2:240744058	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA206971	rs_201981364	4 SubmittersRCV000193462 RCV000639842 RCV001087528
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)	SNV Germline	Chr2:240745767	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia Inborn genetic diseases KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA205590	rs_370286749	15 SubmittersRCV000192638 RCV000727207 RCV001081600 RCV001136883 RCV001847861 RCV002314827 RCV004530126
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)	SNV Germline	Chr2:240745866	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Condition: not provided Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA206964	rs_368682964	10 SubmittersRCV000193457 RCV000280816 RCV000560060 RCV001082394 RCV002433868 RCV001847860
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)	SNV Germline	Chr2:240750448	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208542	rs_186881889	11 SubmittersRCV000194398 RCV001139124 RCV000639833 RCV001699152 RCV001847859 RCV002314826
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)	SNV Germline	Chr2:240750508	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206457	rs_140783695	9 SubmittersRCV000193158 RCV000386218 RCV000532199 RCV001532442 RCV001847858 RCV002317693
NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)	SNV Germline	Chr2:240758410	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA209428	rs_370648599	3 SubmittersRCV000194936 RCV000940273 RCV001847857
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)	SNV Germline	Chr2:240758467	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA208640	rs_199996308	9 SubmittersRCV000194459 RCV000339569 RCV000539758 RCV001847856 RCV002317692 RCV003430743
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)	SNV Germline	Chr2:240761362	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Intellectual disability Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA206597	rs_774604596	7 SubmittersRCV000193245 RCV000624865 RCV001252529 RCV001838988 RCV001852557 RCV003133167 RCV004530125
NM_001244008.2(KIF1A):c.883-3C>T	SNV Germline	Chr2:240775929	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA208265	rs_111507743	6 SubmittersRCV000194229 RCV000267842 RCV000542527 RCV000997713
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)	SNV Germline	Chr2:240783059	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206824	rs_187442951	6 SubmittersRCV000193375 RCV000328663 RCV000554087 RCV001556672 RCV001847867 RCV002314828
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)	SNV Germline	Chr2:240783087	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA209610	rs_797045655	9 SubmittersRCV000195049 RCV000236782 RCV000818660 RCV001391603 RCV001847866
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)	SNV Germline	Chr2:32154380	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 4 Condition: not provided Spastic paraplegia Spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207191	rs_144594804	10 SubmittersRCV000193599 RCV000509114 RCV000658865 RCV001391562 RCV001640291 RCV001847874
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)	SNV Germline	Chr7:100102942	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 50 AP4M1-related disorder	Criteria Provided Conflicting Classifications	CA209697	rs_138437966	7 SubmittersRCV000195099 RCV000766902 RCV001087871 RCV003927759
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)	SNV Germline	Chr7:100105984	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 50 Spastic paraplegia	Criteria Provided Conflicting Classifications	CA206534	rs_754498075	3 SubmittersRCV000193207 RCV001040211 RCV001849338
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)	SNV Germline	Chr7:100106862	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 50 Condition: not provided Hereditary spastic paraplegia AP4M1-related disorder	Criteria Provided Conflicting Classifications	CA206016	rs_147738731	6 SubmittersRCV000192888 RCV000860999 RCV001507706 RCV001847852 RCV003895240
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)	SNV Germline	Chr7:4788844	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 48	Criteria Provided Conflicting Classifications	CA205539	rs_372517211	3 SubmittersRCV000192608 RCV001087595
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	SNV Germline	Chr13:23332894	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207002	rs_36061856	11 SubmittersRCV000193480 RCV000278445 RCV000230933 RCV001079338 RCV001847870
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	SNV Germline	Chr13:23335483	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA277355	rs_140551762	19 SubmittersRCV000194652 RCV000230214 RCV000513770 RCV001815246 RCV001847873
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	SNV Germline	Chr13:23339410	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Abnormal brain morphology Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207202	rs_147099630	18 SubmittersRCV000193608 RCV000475223 RCV000454342 RCV000709972 RCV001358184 RCV001847872
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	SNV Germline	Chr13:23340449	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207090	rs_144267558	13 SubmittersRCV000193535 RCV000338267 RCV000470007 RCV001083422 RCV001847871 RCV003907705 RCV004020340
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)	SNV Germline	Chr14:67782955	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 15 Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA206139	rs_35018134	7 SubmittersRCV000192964 RCV000263238 RCV000713435 RCV001085598 RCV001847876
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)	SNV Germline	Chr2:86217050	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 31 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA322595	rs_189652973	7 SubmittersRCV000415754 RCV000986787 RCV003165456
NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser)	SNV Germline	Chr2:86232673	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 31 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_768890728	2 SubmittersRCV001228818 RCV002345708
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	SNV Germline	Chr6:5613185	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Combined oxidative phosphorylation defect type 14 Hereditary spastic paraplegia 77 See cases FARS2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA325392	rs_751459058	12 SubmittersRCV000200808 RCV000622524 RCV000525331 RCV000578164 RCV003156085 RCV004751360
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)	SNV Germline	Chr6:5771328	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 77 Combined oxidative phosphorylation defect type 14	Criteria Provided Multiple Submitters No Conflicts	CA321645	rs_775690041	4 SubmittersRCV000197201 RCV000578139 RCV001378476
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)	SNV Germline	Chr10:100993500	Conflicting classifications of pathogenicity	Autosomal recessive cerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Infantile onset spinocerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Hereditary spastic paraplegia Condition: not provided TWNK-related disorder	Criteria Provided Conflicting Classifications	CA323951	rs_182559752	6 SubmittersRCV000374204 RCV000283282 RCV000377740 RCV000338208 RCV001847877 RCV000871398 RCV004530167
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)	SNV Germline	Chr16:89508421	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA321845	rs_535030441	8 SubmittersRCV000817246 RCV001722098 RCV001847886 RCV002515437
NM_003119.4(SPG7):c.199C>T (p.Leu67=)	SNV Germline	Chr16:89510505	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA322268	rs_148315471	5 SubmittersRCV000197807 RCV000860664 RCV001815248 RCV001847883
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)	SNV Germline	Chr16:89510526	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA323300	rs_114854791	6 SubmittersRCV000198775 RCV000765319 RCV001847887 RCV003993885
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn)	SNV Germline	Chr16:89524032	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA322399	rs_767820132	2 SubmittersRCV000197933 RCV001853199
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)	SNV Germline	Chr16:89532579	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 not specified	Criteria Provided Conflicting Classifications	CA324322	rs_201543030	6 SubmittersRCV000713479 RCV000804015 RCV003488456
NM_003119.4(SPG7):c.1653C>T (p.Arg551=)	SNV Germline	Chr16:89548103	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA336170	rs_56031686	8 SubmittersRCV000196125 RCV001088894 RCV001847884 RCV003221854
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)	SNV Germline	Chr16:89550505	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA322772	rs_372981030	5 SubmittersRCV000198266 RCV000697812 RCV001847888
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)	SNV Germline	Chr16:89550557	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA322015	rs_151249432	6 SubmittersRCV000197553 RCV001233181 RCV001847891 RCV004782305
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)	SNV Germline	Chr16:89553132	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia Hereditary spastic paraplegia 7 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA325352	rs_2099104	7 SubmittersRCV000487696 RCV000515879 RCV000640979 RCV004816333
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)	SNV Germline	Chr16:89554486	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 SPG7-related disorder	Criteria Provided Conflicting Classifications	CA324687	rs_752257333	3 SubmittersRCV000200130 RCV002515440 RCV003417715
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	SNV Germline	Chr16:89556933	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 7 SPG7-related disorder Hereditary spastic paraplegia Spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA323349	rs_752623413	18 SubmittersRCV000198819 RCV000500664 RCV003401074 RCV001847889 RCV001640295
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)	SNV Germline	Chr16:89556980	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA325312	rs_140769107	10 SubmittersRCV000227318 RCV000766856 RCV001847890
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter)	SNV Germline	Chr2:32137112	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Multiple Submitters No Conflicts	CA337296	rs_757130394	2 SubmittersRCV000197545
NM_015915.5(ATL1):c.300T>G (p.Val100=)	SNV Germline	Chr14:50590958	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 3A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA338991	rs_863224772	3 SubmittersRCV000199958 RCV002433889
NM_015346.4(ZFYVE26):c.7417-5G>C	SNV Germline	Chr14:67748644	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 15 not specified Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA335934	rs_201771769	6 SubmittersRCV000195780 RCV000280192 RCV000614268 RCV001083657 RCV001847894
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)	SNV Germline	Chr14:67762745	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 15 not specified Condition: not provided Hereditary spastic paraplegia ZFYVE26-related disorder	Criteria Provided Conflicting Classifications	CA338151	rs_139163400	8 SubmittersRCV000198741 RCV001116681 RCV000343187 RCV001705152 RCV001847897 RCV003937753
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)	SNV Germline	Chr14:67778189	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 15 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA338345	rs_200243306	7 SubmittersRCV000199016 RCV001116781 RCV001531198 RCV001847893
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)	SNV Germline	Chr14:67782828	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 15 Hereditary spastic paraplegia Condition: not provided ZFYVE26-related disorder	Criteria Provided Conflicting Classifications	CA337036	rs_534497092	5 SubmittersRCV000197212 RCV000298542 RCV001847896 RCV003401078 RCV003917810
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)	SNV Germline	Chr15:44564566	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 not specified Hereditary spastic paraplegia Intellectual disability Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA337736	rs_150571352	8 SubmittersRCV000198221 RCV001331387 RCV000609376 RCV001847903 RCV001252105 RCV002363018 RCV004696869
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter)	SNV Germline	Chr15:44564583	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA336254	rs_762984907	2 SubmittersRCV000196229 RCV004791320
NM_025137.4(SPG11):c.3146-6T>G	SNV Germline	Chr15:44610991	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA336234	rs_777849932	3 SubmittersRCV000196201 RCV003137783
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)	SNV Germline	Chr15:44615514	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA339114	rs_150689014	7 SubmittersRCV000200120 RCV000516986 RCV001847899 RCV002433886 RCV003884398
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)	SNV Germline	Chr15:44663632	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA337596	rs_200573434	11 SubmittersRCV000713414 RCV001086819 RCV001260214 RCV001336692 RCV001847902 RCV002399751 RCV003917821
NM_016630.7(SPG21):c.846G>A (p.Ala282=)	SNV Germline	Chr15:64963701	Conflicting classifications of pathogenicity	Mast syndrome not specified Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA338450	rs_146986015	6 SubmittersRCV000199178 RCV000518621 RCV001847898 RCV003389761
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)	SNV Germline	Chr16:89544731	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7	Criteria Provided Multiple Submitters No Conflicts	CA336544	rs_748555510	3 SubmittersRCV000196592
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)	SNV Germline	Chr16:89553853	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339302	rs_752989523	4 SubmittersRCV000200425 RCV001562435
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)	SNV Germline	Chr2:197487161	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 13 Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA279046	rs_863224878	3 SubmittersRCV000200544 RCV002225501 RCV002517300
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	SNV Germline	Chr2:32144945	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 4 Condition: not provided not specified Cerebral palsy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277520	rs_142053576	11 SubmittersRCV000199081 RCV000486146 RCV001193265 RCV001795327 RCV004020479
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)	SNV Germline	Chr2:32145005	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia SPAST-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278930	rs_863224923	11 SubmittersRCV000195806 RCV001091364 RCV001847904 RCV003401083
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)	SNV Germline	Chr13:23332252	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA351289	rs_863224916	4 SubmittersRCV001843500 RCV001848018 RCV002305471
NM_024306.5(FA2H):c.517C>T (p.Pro173Ser)	SNV Germline	Chr16:74726321	Likely pathogenic	Hereditary spastic paraplegia 35	Criteria Provided Single Submitter	CA279015	rs_863224870	1 SubmittersRCV000199368
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)	SNV Germline	Chr16:89550559	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7	Criteria Provided Multiple Submitters No Conflicts	CA277518	rs_72547552	2 SubmittersRCV000198892
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)	SNV Germline	Chr10:95633040	Likely pathogenic	Hereditary spastic paraplegia 9A P5CS deficiency	Criteria Provided Single Submitter	CA347465	rs_864321669	2 SubmittersRCV000200956 RCV003389243
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	SNV Germline	Chr10:95633012	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 9A Condition: not provided ALDH18A1 deficiency Cutis laxa, autosomal dominant 3 de Barsy syndrome Autosomal dominant spastic paraplegia type 9	Criteria Provided Multiple Submitters No Conflicts	CA347466	rs_864321670	7 SubmittersRCV000200959 RCV000761744 RCV001095737 RCV003765292
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)	SNV Germline	Chr10:95637381	Pathogenic	Hereditary spastic paraplegia 9A de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3	Criteria Provided Single Submitter	CA279055	rs_863224945	2 SubmittersRCV000200954 RCV003765293
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)	SNV Germline	Chr10:95611372	Pathogenic	Hereditary spastic paraplegia 9A	No Assertion Criteria Provided	CA280923	rs_766264810	1 SubmittersRCV000200958
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)	SNV Germline	Chr10:95637328	Pathogenic	Cutis laxa, autosomal dominant 3 Condition: not provided Hereditary spastic paraplegia 9A Cutis laxa, autosomal dominant 3 ALDH18A1-related de Barsy syndrome Autosomal recessive complex spastic paraplegia type 9B	Criteria Provided Multiple Submitters No Conflicts	CA279130	rs_863225044	6 SubmittersRCV000201215 RCV000481980 RCV003883142
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)	SNV Germline	Chr10:95637327	Pathogenic	Cutis laxa, autosomal dominant 3 Hereditary spastic paraplegia 9A ALDH18A1-related disorder Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279126	rs_863225045	5 SubmittersRCV000201213 RCV004798805 RCV004530202 RCV003765295 RCV003236787
NM_003119.4(SPG7):c.988-1G>A	SNV Germline	Chr16:89531903	Pathogenic	Hereditary spastic paraplegia 7 Hereditary spastic paraplegia SPG7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA339773	rs_748309520	7 SubmittersRCV000206709 RCV001847907 RCV003897433
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)	SNV Germline	Chr16:89550545	Pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA8244370	rs_72547551	12 SubmittersRCV000235251 RCV000413737 RCV001847906
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)	SNV Germline	Chr16:89553853	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10575796	rs_752989523	2 SubmittersRCV000236261 RCV001847908
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)	SNV Germline	Chr16:89556954	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10575797	rs_879253797	5 SubmittersRCV000236780 RCV001847905
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_002361.4(MAG):c.399C>G (p.Ser133Arg)	SNV Germline	Chr19:35295965	Pathogenic	Hereditary spastic paraplegia 75	No Assertion Criteria Provided	CA211166	rs_2301600	1 SubmittersRCV000202409
NM_001244008.2(KIF1A):c.2908C>T (p.Arg970Cys)	SNV Germline	Chr2:240750498	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA249179	rs_864309570	4 SubmittersRCV000202975 RCV001236114 RCV002433897 RCV003324729
NM_004722.4(AP4M1):c.930G>A (p.Arg310=)	SNV Germline	Chr7:100105959	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 50 Hereditary spastic paraplegia Condition: not provided AP4M1-related disorder	Criteria Provided Conflicting Classifications	CA249229	rs_141754568	6 SubmittersRCV000203025 RCV000559361 RCV001847910 RCV002292486 RCV003927869
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)	SNV Germline	Chr8:125073296	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248939	rs_150430170	4 SubmittersRCV000202751 RCV001439371 RCV002517353
NM_014846.4(WASHC5):c.639G>C (p.Gln213His)	SNV Germline	Chr8:125078810	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 8 Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA249149	rs_141234822	5 SubmittersRCV000202950 RCV000767086 RCV001163829 RCV001490442 RCV001847913
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)	SNV Germline	Chr2:32141917	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA348315	rs_864622162	8 SubmittersRCV000204046 RCV000585136 RCV001847923
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)	SNV Germline	Chr2:32144996	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA349419	rs_864622179	6 SubmittersRCV000205236 RCV000432874 RCV001847924
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)	SNV Germline	Chr8:64616207	Pathogenic	Spastic paraplegia Inborn genetic diseases Condition: not provided Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA350581	rs_200737038	7 SubmittersRCV000206556 RCV000210595 RCV000729706 RCV001312060 RCV001847930
NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)	SNV Germline	Chr8:64624458	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 5A	Criteria Provided Conflicting Classifications	CA350038	rs_377119798	2 SubmittersRCV000205949 RCV000379462
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)	SNV Germline	Chr8:64798529	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Hereditary spastic paraplegia 5A CYP7B1-related disorder	Criteria Provided Conflicting Classifications	CA349540	rs_537303950	6 SubmittersRCV000205382 RCV000512932 RCV001163749 RCV003955222
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)	SNV Germline	Chr11:62694610	Conflicting classifications of pathogenicity	Congenital generalized lipodystrophy type 2 Neuronopathy, distal hereditary motor, type 5A not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA349870	rs_369806785	6 SubmittersRCV000329673 RCV000276983 RCV000427504 RCV000727441 RCV001087921 RCV002372202 RCV001847934
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)	SNV Germline	Chr14:50614406	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA350143	rs_864622520	9 SubmittersRCV000206078 RCV000235294 RCV001847933
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)	SNV Germline	Chr14:50628104	Likely pathogenic	Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA348222	rs_864622083	2 SubmittersRCV000203941
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)	SNV Germline	Chr14:50628394	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA348023	rs_864622269	11 SubmittersRCV000203724 RCV000390284 RCV000624103 RCV001847927
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)	SNV Germline	Chr15:44563256	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Hereditary spastic paraplegia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA349992	rs_61732733	9 SubmittersRCV000205885 RCV000434779 RCV001847932 RCV002292488 RCV002372199
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)	SNV Germline	Chr15:44633542	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA350373	rs_79708848	11 SubmittersRCV000206327 RCV000444113 RCV001260213 RCV001847925
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)	SNV Germline	Chr16:89526366	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA349347	rs_114255772	3 SubmittersRCV000205153
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)	SNV Germline	Chr16:89553103	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided SPG7-related disorder	Criteria Provided Conflicting Classifications	CA350356	rs_864622507	7 SubmittersRCV000206309 RCV000993072 RCV003897449
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)	SNV Germline	Chr16:89553805	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA349575	rs_769602042	8 SubmittersRCV000205405 RCV000585273
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)	SNV Germline	Chr16:89553941	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349321	rs_864622094	6 SubmittersRCV000205117 RCV000413637
NM_000533.5(PLP1):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:103776997	Pathogenic	Hereditary spastic paraplegia 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA348083	rs_864622194	2 SubmittersRCV000203805 RCV002517370
NM_001371279.1(REEP1):c.595+1G>A	SNV Germline	Chr2:86232624	Pathogenic	Hereditary spastic paraplegia 31	No Assertion Criteria Provided	CA354093	rs_869312880	1 SubmittersRCV000210477
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)	SNV Germline	Chr14:67752520	Pathogenic/Likely pathogenic	Inborn genetic diseases Hereditary spastic paraplegia 15 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA358160	rs_869312914	3 SubmittersRCV000210660 RCV000670105 RCV003765356
NM_004820.5(CYP7B1):c.259+2T>C	SNV Germline	Chr8:64624401	Pathogenic	Hereditary spastic paraplegia 5A Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA4764264	rs_751713917	3 SubmittersRCV000490267 RCV002517441
NM_014946.4(SPAST):c.1245+1G>A	SNV Germline/somatic	Chr2:32128480	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Inborn genetic diseases SPAST-related spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10576248	rs_875989878	18 SubmittersRCV000211536 RCV000993061 RCV001267594 RCV001796968 RCV001847944
NM_006459.4(ERLIN1):c.149G>T (p.Gly50Val)	SNV Germline	Chr10:100183802	Pathogenic	Hereditary spastic paraplegia 62	No Assertion Criteria Provided	CA10576346	rs_876661322	1 SubmittersRCV000211706
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)	SNV Germline	Chr2:240744032	Conflicting classifications of pathogenicity	Condition: not provided History of neurodevelopmental disorder Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207781	rs_35698242	15 SubmittersRCV000213625 RCV000718021 RCV004786611 RCV000540329 RCV001847946 RCV002247667 RCV000764395
NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val)	SNV Germline	Chr2:240763259	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2208262	rs_765812659	4 SubmittersRCV000219370 RCV000352933 RCV000509269 RCV000639800
NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser)	SNV Germline	Chr2:240783093	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Multiple Submitters No Conflicts	CA10577247	rs_876661283	2 SubmittersRCV000213797 RCV001854764
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr)	SNV Germline	Chr2:240783058	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2208637	rs_756136593	4 SubmittersRCV000213561 RCV000699622 RCV001329212 RCV002444868
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)	SNV Germline	Chr9:92729208	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary spastic paraplegia Neuronopathy, distal hereditary motor, autosomal dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases BICD2-related disorder	Criteria Provided Conflicting Classifications	CA5126852	rs_61754130	10 SubmittersRCV000224292 RCV000431161 RCV000516078 RCV000789077 RCV001081222 RCV002429084 RCV003937870
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)	SNV Germline	Chr15:44566301	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis Hereditary spastic paraplegia 11 Inborn genetic diseases SPG11-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7534007	rs_141818132	11 SubmittersRCV000224214 RCV001260212 RCV001085256 RCV002365166 RCV003919902 RCV001847948
NM_001368809.2(AMPD2):c.1081-8C>A	SNV Germline	Chr1:109628075	Conflicting classifications of pathogenicity	Condition: not provided Pontocerebellar hypoplasia type 9 Hereditary spastic paraplegia 63	Criteria Provided Conflicting Classifications	CA993026	rs_145268448	2 SubmittersRCV000224507 RCV001399673
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)	SNV Germline	Chr13:23339758	Conflicting classifications of pathogenicity	Condition: not provided not specified Spastic paraplegia Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911430	rs_61548169	6 SubmittersRCV000224523 RCV000290021 RCV001084237 RCV001847949 RCV001112284
NM_000533.5(PLP1):c.388C>T (p.His130Tyr)	SNV Germline	ChrX:103786661	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 2	Criteria Provided Conflicting Classifications	CA10581371	rs_878853076	2 SubmittersRCV000223963 RCV001854777
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	SNV Germline	Chr13:23331227	Conflicting classifications of pathogenicity	Condition: not provided not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910119	rs_35799469	9 SubmittersRCV000224626 RCV000251185 RCV000322346 RCV001079358 RCV001847950
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)	SNV Germline	Chr1:228158705	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA1430934	rs_760502262	4 SubmittersRCV000224481 RCV001086089 RCV001847952
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	4 SubmittersRCV000224979 RCV000498920 RCV000706352
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)	SNV Germline	Chr15:44633619	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7535486	rs_765061840	5 SubmittersRCV000757917 RCV000224985 RCV001565198
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)	SNV Germline	Chr1:228158951	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia GJC2-related disorder not specified	Criteria Provided Conflicting Classifications	CA1430959	rs_140942230	9 SubmittersRCV000436644 RCV001084409 RCV001848000 RCV003939882 RCV004800355
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)	SNV Germline	Chr2:201741784	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Condition: not provided Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058242	rs_3219160	8 SubmittersRCV000294407 RCV000388670 RCV000756988 RCV001082502 RCV001848004
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	SNV Germline	Chr2:201757758	Conflicting classifications of pathogenicity	Condition: not provided not specified Infantile-onset ascending hereditary spastic paralysis Juvenile primary lateral sclerosis Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058513	rs_190369242	8 SubmittersRCV000512695 RCV000516346 RCV000764355 RCV001082210 RCV001137184 RCV001139424 RCV001848003
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)	SNV Germline	Chr2:32136933	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10581968	rs_878854990	14 SubmittersRCV000234461 RCV000713464 RCV001847989
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	SNV Germline	Chr2:32141906	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Inborn genetic diseases Condition: not provided Abnormal central motor function Hereditary spastic paraplegia SPAST-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10581969	rs_878854991	27 SubmittersRCV000230990 RCV000623007 RCV000713467 RCV001814125 RCV001847990 RCV003422150
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)	SNV Germline	Chr2:32144995	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10581970	rs_878854992	2 SubmittersRCV000228683 RCV002472978
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)	SNV Germline	Chr7:4783430	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 48 AP5Z1-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA4137222	rs_191971593	8 SubmittersRCV000233083 RCV001079083 RCV003929988 RCV001847987
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)	SNV Germline	Chr7:4784966	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 48 not specified Hereditary spastic paraplegia Condition: not provided AP5Z1-related disorder	Criteria Provided Conflicting Classifications	CA4137421	rs_572271008	6 SubmittersRCV000226846 RCV001288787 RCV001847988 RCV003430791 RCV003967657
NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg)	SNV Germline	Chr7:4786384	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 48 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4137705	rs_376329631	4 SubmittersRCV000228923 RCV001847981 RCV002518353 RCV004791359
NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr)	SNV Germline	Chr7:4788284	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 48 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4137882	rs_535174478	3 SubmittersRCV000232141 RCV001847984 RCV003258712
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)	SNV Germline	Chr7:4791361	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 48 Hereditary spastic paraplegia AP5Z1-related disorder	Criteria Provided Conflicting Classifications	CA4138468	rs_368571200	6 SubmittersRCV000226378 RCV001088873 RCV001847985 RCV003907888
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)	SNV Germline	Chr9:35739658	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Hereditary spastic paraplegia Hereditary spastic paraplegia 46	Criteria Provided Conflicting Classifications	CA5050370	rs_142883889	5 SubmittersRCV000229631 RCV001311779 RCV001848008 RCV001331163
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)	SNV Germline	Chr9:35740296	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA5050485	rs_142607078	8 SubmittersRCV000231814 RCV001848007 RCV001084099
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)	SNV Germline	Chr12:57569671	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 10 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided KIF5A-related disorder	Criteria Provided Conflicting Classifications	CA6652748	rs_140929639	10 SubmittersRCV000229098 RCV000362839 RCV001847957 RCV002516323 RCV001697585 RCV004547607
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)	SNV Germline	Chr12:57581917	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6653261	rs_113247976	11 SubmittersRCV000424199 RCV000625002 RCV000713410 RCV001081669 RCV001260204 RCV001847959
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	SNV Germline	Chr13:23331279	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910129	rs_112630127	7 SubmittersRCV000228765 RCV000379249 RCV000516975 RCV001560895 RCV001847972
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	SNV Germline	Chr13:23332188	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910240	rs_116791509	7 SubmittersRCV000233808 RCV000293354 RCV000518611 RCV001563142 RCV001847971
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	SNV Germline	Chr13:23333055	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910385	rs_113595574	7 SubmittersRCV000226968 RCV000516532 RCV001113446 RCV001689760 RCV001847970
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	SNV Germline	Chr13:23333265	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910424	rs_137856939	9 SubmittersRCV000392205 RCV000516579 RCV000710203 RCV001079473 RCV001847969
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	SNV Germline	Chr13:23335537	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia not specified SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910780	rs_111540787	12 SubmittersRCV000341299 RCV000676358 RCV001083821 RCV001847977 RCV002222460 RCV003929987
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	SNV Germline	Chr13:23337095	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911032	rs_146722795	12 SubmittersRCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	SNV Germline	Chr13:23340747	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Spastic paraplegia SACS-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911564	rs_148878361	13 SubmittersRCV000334685 RCV000372721 RCV000710205 RCV001082217 RCV003929985 RCV001847975
NM_014363.6(SACS):c.2988A>G (p.Leu996=)	SNV Germline	Chr13:23340888	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911582	rs_111846884	9 SubmittersRCV000386665 RCV000761852 RCV001086002 RCV001109613 RCV001847974
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)	SNV Germline	Chr13:23354532	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911796	rs_17325713	12 SubmittersRCV000234475 RCV000250154 RCV000624974 RCV000676368 RCV001847973
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys)	SNV Germline	Chr14:102434288	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 49 Hereditary spastic paraplegia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7357740	rs_751957510	5 SubmittersRCV000225996 RCV001847978 RCV003401181 RCV002518351
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)	SNV Germline	Chr14:67748523	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 15 Condition: not provided Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA7238918	rs_147494935	6 SubmittersRCV000228666 RCV000379338 RCV001722259 RCV001847998 RCV004999159
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	SNV Germline	Chr15:44563197	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided not specified Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7533839	rs_76116949	14 SubmittersRCV000231950 RCV000514388 RCV000602319 RCV001260218 RCV001848014
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)	SNV Germline	Chr15:44567546	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7534056	rs_144165094	6 SubmittersRCV000232056 RCV001082129 RCV002374379 RCV003939889
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)	SNV Germline	Chr15:44596919	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided not specified Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7534777	rs_139887370	6 SubmittersRCV000227706 RCV003221880 RCV001658071 RCV002356309 RCV003977687
NM_025137.4(SPG11):c.1602+10T>G	SNV Germline	Chr15:44648856	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA7535513	rs_201535432	3 SubmittersRCV000230118 RCV002261019 RCV002467687 RCV002467686
NM_025137.4(SPG11):c.1008-4C>T	SNV Germline	Chr15:44651943	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11	Criteria Provided Conflicting Classifications	CA7535634	rs_369112409	2 SubmittersRCV000229637
NM_025137.4(SPG11):c.60G>C (p.Ala20=)	SNV Germline	Chr15:44663588	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7535962	rs_544136842	3 SubmittersRCV000228154 RCV002356310
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)	SNV Germline	Chr15:50968263	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Hereditary spastic paraplegia 51	Criteria Provided Conflicting Classifications	CA7559184	rs_142215198	6 SubmittersRCV000232082 RCV002293430 RCV003987469
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)	SNV Germline	Chr16:74719083	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA10583427	rs_878855081	4 SubmittersRCV000229293 RCV000522066 RCV001848012 RCV003230464
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)	SNV Germline	Chr16:74719125	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 35 not specified Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA8170441	rs_775750642	5 SubmittersRCV000226521 RCV001391536 RCV001731541 RCV001848011 RCV003480565
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)	SNV Germline	Chr16:74740048	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia 35 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8170581	rs_147632811	7 SubmittersRCV000419332 RCV000514460 RCV001084384 RCV001115913 RCV001848010
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)	SNV Germline	Chr19:7535950	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 Condition: not provided not specified PNPLA6-related disorder	Criteria Provided Conflicting Classifications	CA9139347	rs_200310048	6 SubmittersRCV000226456 RCV001727651 RCV001699245 RCV004532942
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)	SNV Germline	Chr19:7542855	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia Hereditary spastic paraplegia 39	Criteria Provided Conflicting Classifications	CA9139820	rs_145191932	11 SubmittersRCV000280617 RCV000515015 RCV001847963 RCV001084647
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=)	SNV Germline	Chr19:7557262	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 Condition: not provided	Criteria Provided Conflicting Classifications	CA9140438	rs_375987938	3 SubmittersRCV001132626 RCV003884424
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)	SNV Germline	Chr19:7558902	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 not specified	Criteria Provided Conflicting Classifications	CA9140492	rs_367675784	3 SubmittersRCV000234403 RCV001658064
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)	SNV Germline	Chr19:7558947	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 not specified Hereditary spastic paraplegia Condition: not provided PNPLA6-related disorder	Criteria Provided Conflicting Classifications	CA9140500	rs_138837774	9 SubmittersRCV000228258 RCV000605874 RCV001847966 RCV001531879 RCV004532941
NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr)	SNV Germline	Chr2:240719053	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10584187	rs_879253903	3 SubmittersRCV000236433 RCV000691779 RCV002338768
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)	SNV Germline	Chr2:240719089	Conflicting classifications of pathogenicity	Condition: not provided History of neurodevelopmental disorder Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory and autonomic, type 2A Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207170	rs_199574770	5 SubmittersRCV000236636 RCV000719157 RCV000764388 RCV001068459
NM_001244008.2(KIF1A):c.5102G>A (p.Arg1701Gln)	SNV Germline	Chr2:240719118	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207175	rs_780828140	2 SubmittersRCV000236246 RCV001302199
NM_001244008.2(KIF1A):c.4708C>T (p.His1570Tyr)	SNV Germline	Chr2:240721842	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207344	rs_528171871	2 SubmittersRCV000236455 RCV000639783
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)	SNV Germline	Chr2:240722610	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Intellectual disability, autosomal dominant 9 not specified Hereditary spastic paraplegia Inborn genetic diseases Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207398	rs_371831198	8 SubmittersRCV000236175 RCV000528862 RCV000853578 RCV001820787 RCV001848022 RCV002338772 RCV002487099
NM_001244008.2(KIF1A):c.4297G>A (p.Val1433Met)	SNV Germline	Chr2:240723996	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10584188	rs_879253922	3 SubmittersRCV000235597 RCV001069303 RCV002327155
NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg)	SNV Germline	Chr2:240737091	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability, autosomal dominant 9 Inborn genetic diseases Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA10584189	rs_879253904	4 SubmittersRCV000236053 RCV001334233 RCV002321899 RCV003765469
NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg)	SNV Germline	Chr2:240741344	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory, type 2C	Criteria Provided Conflicting Classifications	CA2207703	rs_377389267	3 SubmittersRCV000237088 RCV000706485
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)	SNV Germline	Chr2:240746156	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Condition: not provided not specified Intellectual disability Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia KIF1A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2207905	rs_183359489	11 SubmittersRCV000338157 RCV000423040 RCV001820786 RCV001252531 RCV001084584 RCV001848020 RCV004532977 RCV004020917
NM_001244008.2(KIF1A):c.1836G>A (p.Glu612=)	SNV Germline	Chr2:240763279	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA10584192	rs_879254322	2 SubmittersRCV000235415 RCV001394706
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)	SNV Germline	Chr2:240766936	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory, type 2C History of neurodevelopmental disorder Condition: not provided Hereditary spastic paraplegia 30 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2208322	rs_375972461	6 SubmittersRCV000236475 RCV000529826 RCV000716737 RCV000767159 RCV001143565 RCV002518454
NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys)	SNV Germline	Chr2:240773254	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA10584195	rs_879254004	3 SubmittersRCV000236924 RCV001334229 RCV003765473
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)	SNV Germline	Chr2:240783777	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 KIF1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10584198	rs_879253888	12 SubmittersRCV000236491 RCV000623278 RCV000763486 RCV000995795 RCV001857794 RCV004737388
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)	SNV Germline	Chr2:240797712	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA10584200	rs_879253976	3 SubmittersRCV000236138 RCV001257592 RCV001848021
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)	SNV Germline	Chr2:86232691	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 31 Inborn genetic diseases REEP1-related disorder	Criteria Provided Conflicting Classifications	CA1748693	rs_144874997	5 SubmittersRCV000236570 RCV001086893 RCV002347923 RCV003939905
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)	SNV Germline	Chr3:100748388	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 57 Hereditary motor and sensory neuropathy, Okinawa type Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2517248	rs_111356679	5 SubmittersRCV000235479 RCV000533138 RCV001081716 RCV002411066
NM_001253852.3(AP4B1):c.114-2A>C	SNV Germline	Chr1:113902864	Pathogenic	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia 47	Criteria Provided Multiple Submitters No Conflicts	CA10585950	rs_879255396	4 SubmittersRCV000239291 RCV001849350 RCV001854921
NM_025137.4(SPG11):c.2316+5G>A	SNV Germline	Chr15:44622723	Likely pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA270074844	rs_879255274	1 SubmittersRCV002518741
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr)	SNV Germline	Chr6:5368994	Pathogenic	Hereditary spastic paraplegia 77	Criteria Provided Single Submitter	CA10586223	rs_145555213	3 SubmittersRCV000239526
NM_020919.4(ALS2):c.1816-8C>T	SNV Germline	Chr2:201746756	Conflicting classifications of pathogenicity	not specified Condition: not provided Infantile-onset ascending hereditary spastic paralysis ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058339	rs_185911369	10 SubmittersRCV000251509 RCV000710520 RCV001087893 RCV000400905 RCV000349374 RCV001848038
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)	SNV Germline	Chr9:132328253	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297423	rs_142020270	11 SubmittersRCV000252372 RCV001085624 RCV001311796 RCV001848032 RCV002321932
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)	SNV Germline	Chr9:132328623	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spastic paraplegia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5297507	rs_61742937	14 SubmittersRCV000250229 RCV000387370 RCV000541126 RCV001168778 RCV001391479 RCV001706351 RCV001848031
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	SNV Germline	Chr13:23336348	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910891	rs_111920492	13 SubmittersRCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946
NM_014363.6(SACS):c.1839G>A (p.Gln613=)	SNV Germline	Chr13:23354773	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911843	rs_35840595	10 SubmittersRCV000247615 RCV000361137 RCV000676370 RCV001084224 RCV001848027
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)	SNV Germline	Chr2:32089527	Pathogenic	Condition: not provided Hereditary spastic paraplegia 4	Criteria Provided Multiple Submitters No Conflicts	CA10588341	rs_886039695	3 SubmittersRCV000255494 RCV001038756
NM_000533.5(PLP1):c.191+1G>A	SNV Germline	ChrX:103785769	Pathogenic	Condition: not provided Hereditary spastic paraplegia 2	Criteria Provided Multiple Submitters No Conflicts	CA10588734	rs_886039537	2 SubmittersRCV000255963 RCV002288949
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)	SNV Germline	Chr2:240783776	Pathogenic/Likely pathogenic	Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30	Criteria Provided Multiple Submitters No Conflicts	CA10602852	rs_886041692	11 SubmittersRCV000326247 RCV000803981 RCV001078149 RCV001808727
NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly)	SNV Germline	Chr2:32136886	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 4	Criteria Provided Conflicting Classifications	CA10602853	rs_886041597	2 SubmittersRCV000360918 RCV003522953
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)	SNV Germline	Chr7:100106841	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 50 Spastic paraplegia	Criteria Provided Conflicting Classifications	CA10602949	rs_886041126	8 SubmittersRCV000361900 RCV001233636 RCV001849355
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)	SNV Germline	Chr10:100993505	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions Mitochondrial DNA depletion syndrome Ataxia Neuropathy Spectrum Disorders Autosomal recessive cerebellar ataxia Infantile onset spinocerebellar ataxia Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5653396	rs_369223258	8 SubmittersRCV000278667 RCV000312773 RCV000352301 RCV000406261 RCV001336025 RCV001722382 RCV001848044 RCV004021053
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)	SNV Germline	Chr10:100988451	Conflicting classifications of pathogenicity	Condition: not provided Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Infantile onset spinocerebellar ataxia Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5653043	rs_145068570	7 SubmittersRCV000320273 RCV001107964 RCV001107963 RCV001107965 RCV001102728 RCV001848043
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	SNV Germline	Chr13:23353788	Pathogenic/Likely pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia Abnormal brain morphology Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6911751	rs_752059006	14 SubmittersRCV000393719 RCV000984212 RCV000454220 RCV001859535 RCV001848046
NM_015915.5(ATL1):c.478T>C (p.Ser160Pro)	SNV Germline	Chr14:50591595	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 3A	Criteria Provided Conflicting Classifications	CA10603244	rs_886041897	2 SubmittersRCV000316265 RCV000705284
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)	SNV Germline	Chr16:89526389	Pathogenic	Condition: not provided Hereditary spastic paraplegia 7 Inborn genetic diseases Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA8243735	rs_764791523	7 SubmittersRCV000276524 RCV001391423 RCV002519056 RCV004786648
NM_021830.5(TWNK):c.384C>T (p.Ser128=)	SNV Germline	Chr10:100988594	Conflicting classifications of pathogenicity	Infantile onset spinocerebellar ataxia Condition: not provided Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Autosomal recessive cerebellar ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5653057	rs_148234280	6 SubmittersRCV000294722 RCV000336672 RCV000347919 RCV000351895 RCV000386725 RCV001848047
NM_025137.4(SPG11):c.4744-6T>C	SNV Germline	Chr15:44589420	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7534588	rs_147550048	11 SubmittersRCV000513183 RCV001086542 RCV001848049 RCV002338823
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	SNV Germline	Chr13:23355239	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia not specified SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911923	rs_61729954	16 SubmittersRCV000516147 RCV000603816 RCV000676372 RCV001082461 RCV001844110 RCV003930065
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)	SNV Germline	Chr2:240719052	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia not specified Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207161	rs_199804623	14 SubmittersRCV000282862 RCV000547693 RCV000725080 RCV004021106 RCV001848050 RCV004701368 RCV003989518
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)	SNV Germline	Chr13:23340124	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911480	rs_76872266	8 SubmittersRCV000269188 RCV000282202 RCV000861200 RCV001086494 RCV001848052 RCV003947857
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)	SNV Germline	Chr14:67807405	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7240681	rs_199794711	3 SubmittersRCV000348382 RCV001086049 RCV001848053
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)	SNV Germline	Chr2:240745782	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2207842	rs_200149062	11 SubmittersRCV000346892 RCV000725374 RCV001081283 RCV001136884 RCV001848054 RCV002314010
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_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	6 SubmittersRCV000259263 RCV000811912 RCV002467716 RCV002379128 RCV002467715 RCV004586659
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	SNV Germline	Chr13:23335854	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6910829	rs_34928783	8 SubmittersRCV000512830 RCV001085541 RCV001111636 RCV001848058 RCV004999227
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)	SNV Germline	Chr16:89526347	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia SPG7-related disorder	Criteria Provided Conflicting Classifications	CA8243731	rs_774774648	7 SubmittersRCV000276883 RCV000725648 RCV001848059 RCV003409411
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)	SNV Germline	Chr19:29702825	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA9351885	rs_146492790	9 SubmittersRCV000304840 RCV000468820 RCV001126321 RCV001848060 RCV003323494
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)	SNV Germline	Chr12:57570019	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 10 Spastic paraplegia Hereditary spastic paraplegia Inborn genetic diseases KIF5A-related disorder	Criteria Provided Conflicting Classifications	CA6652775	rs_143326964	10 SubmittersRCV000316036 RCV000725991 RCV001114823 RCV001087471 RCV001848061 RCV002521970 RCV004549595
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)	SNV Germline	Chr13:23332173	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910237	rs_146154135	5 SubmittersRCV000313782 RCV001089271 RCV001848062 RCV001782776
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)	SNV Germline	Chr13:23337868	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911152	rs_537408260	6 SubmittersRCV000390861 RCV000401468 RCV001087895 RCV001848064
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)	SNV Germline	Chr14:67783430	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia 15 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7239917	rs_140756827	11 SubmittersRCV000316714 RCV000713434 RCV001082500 RCV001119777 RCV001848065
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)	SNV Germline	Chr8:64616011	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia 5A Congenital bile acid synthesis defect 3 CYP7B1-related disorder	Criteria Provided Conflicting Classifications	CA4764191	rs_145152682	7 SubmittersRCV000262419 RCV001232156 RCV001332520 RCV004725147 RCV004742366
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)	SNV Germline	Chr14:67775960	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 15 not specified Spastic paraplegia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7239587	rs_143981992	6 SubmittersRCV000343998 RCV000408268 RCV000633073 RCV001571869 RCV001848067
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)	SNV Germline	Chr14:67782888	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Hereditary spastic paraplegia 15 Inborn genetic diseases ZFYVE26-related disorder Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7239812	rs_148552744	7 SubmittersRCV000341865 RCV000860654 RCV001118235 RCV002518084 RCV003930170 RCV004546476 RCV001848068
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)	SNV Germline	Chr15:22812248	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 6 NIPA1-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7426136	rs_139372534	8 SubmittersRCV000616724 RCV000726331 RCV001087083 RCV003940067 RCV001848069
NM_000533.5(PLP1):c.453G>A (p.Lys151=)	SNV Germline	ChrX:103786726	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 2 Condition: not provided Pelizaeus-Merzbacher disease	Criteria Provided Multiple Submitters No Conflicts	CA10606773	rs_886044450	3 SubmittersRCV000691268 RCV000380260 RCV004595503
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)	SNV Germline	Chr2:201727708	Conflicting classifications of pathogenicity	ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058054	rs_375742430	3 SubmittersRCV000316456 RCV000361538 RCV000703570 RCV001848676
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	SNV Germline	Chr2:201733377	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Peripheral axonal neuropathy Infantile-onset ascending hereditary spastic paralysis Tip-toe gait not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058171	rs_202219507	8 SubmittersRCV000328276 RCV000382737 RCV000414980 RCV000813075 RCV001358657 RCV001289224 RCV001580056 RCV001848678
NM_002156.5(HSPD1):c.428-15A>G	SNV Germline	Chr2:197495391	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 13 Spastic paraplegia	Criteria Provided Conflicting Classifications	CA2043609	rs_769110777	2 SubmittersRCV000383647 RCV002521353
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)	SNV Germline	Chr2:201726526	Conflicting classifications of pathogenicity	ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Hereditary spastic paraplegia Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2057955	rs_200706696	6 SubmittersRCV000261194 RCV000355910 RCV000515815 RCV000863616 RCV001260560 RCV001590976 RCV004999329
NM_001244008.2(KIF1A):c.*23C>A	SNV Germline	Chr2:240717341	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Condition: not provided	Criteria Provided Conflicting Classifications	CA2207077	rs_531276835	2 SubmittersRCV000377326 RCV001799653
NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=)	SNV Germline	Chr2:240719195	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2207193	rs_148176695	5 SubmittersRCV000300261 RCV000534365 RCV001848681 RCV002338932 RCV003430853
NM_001244008.2(KIF1A):c.4744-5C>T	SNV Germline	Chr2:240721043	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 not specified Condition: not provided KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA2207308	rs_117815481	7 SubmittersRCV000398914 RCV000555537 RCV000600006 RCV001718709 RCV004530366
NM_001244008.2(KIF1A):c.4529C>T (p.Pro1510Leu)	SNV Germline	Chr2:240722592	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10612901	rs_368005947	5 SubmittersRCV000359221 RCV000536756 RCV002244807 RCV002317846
NM_001244008.2(KIF1A):c.4110C>T (p.Ser1370=)	SNV Germline	Chr2:240726838	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Condition: not provided Inborn genetic diseases Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C	Criteria Provided Conflicting Classifications	CA2207501	rs_374134509	4 SubmittersRCV000399773 RCV002292531 RCV002356465 RCV000875296
NM_001244008.2(KIF1A):c.3901+9G>A	SNV Germline	Chr2:240740049	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207604	rs_141647310	2 SubmittersRCV000356185 RCV001422875
NM_001244008.2(KIF1A):c.3672G>A (p.Arg1224=)	SNV Germline	Chr2:240741346	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Inborn genetic diseases Neuropathy, hereditary sensory, type 2C Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Condition: not provided KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA2207704	rs_371024769	6 SubmittersRCV000402353 RCV002317847 RCV000559411 RCV001590979 RCV004737451

NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)

SNV
Germline

Chr14:67782840

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114476

rs_118204049

6 SubmittersRCV000000785 RCV001035676 RCV001555238

NM_015346.4(ZFYVE26):c.5485-1G>A

SNV
Germline

Chr14:67769731

Pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

rs_1594898627

1 SubmittersRCV000000786

NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr14:67802241

Pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA114478

rs_118204050

1 SubmittersRCV000000788

NM_024306.5(FA2H):c.786+1G>A

SNV
Germline

Chr16:74718987

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 35
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567633766

3 SubmittersRCV000001098 RCV002512633

NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)

SNV
Germline

Chr16:74774653

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35

Criteria Provided
Conflicting Classifications

CA251671

rs_121918217

4 SubmittersRCV000001099

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

Criteria Provided
Multiple Submitters
No Conflicts

CA249690

rs_118203963

12 SubmittersRCV000001168 RCV000202373 RCV000414837 RCV000518418 RCV002354145

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

Criteria Provided
Single Submitter

CA249693

rs_267607084

3 SubmittersRCV000001170 RCV000202382 RCV000193032

NM_025137.4(SPG11):c.442+1G>C

SNV
Germline

Chr15:44660431

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA339868

rs_312262715

8 SubmittersRCV000001173 RCV001092501 RCV004689398

NM_025137.4(SPG11):c.7152-1G>C

SNV
Germline

Chr15:44563302

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA339869

rs_200079802

3 SubmittersRCV000001174

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

SNV
Germline

Chr15:44584057

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339870

rs_141848292

12 SubmittersRCV000001175 RCV000413953 RCV002345222 RCV002482813

NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)

SNV
Germline

Chr8:125056817

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339873

rs_80338867

10 SubmittersRCV000001220 RCV001847561 RCV002227984 RCV003242958 RCV003320543

NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)

SNV
Germline

Chr8:125057574

Pathogenic

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA251713

rs_80338866

3 SubmittersRCV000001221 RCV001851527

NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp)

SNV
Germline

Chr8:125061192

Pathogenic

Hereditary spastic paraplegia 8

No Assertion Criteria Provided

CA339874

rs_80338865

2 SubmittersRCV000001222

NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)

SNV
Germline

Chr10:97749494

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 33
not specified
Spastic tetraparesis
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA114909

rs_35077384

9 SubmittersRCV000001352 RCV000407569 RCV000415084 RCV000471962 RCV001723530

NM_001371279.1(REEP1):c.183-2A>G

SNV
Germline

Chr2:86254816

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA115244

rs_387906264

2 SubmittersRCV000001937

NM_001371279.1(REEP1):c.837G>T (p.Ser279=)

SNV
Germline

Chr2:86217057

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
not specified
Neuronopathy, distal hereditary motor, type 5B
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
REEP1-related disorder

Criteria Provided
Conflicting Classifications

CA115245

rs_377637314

11 SubmittersRCV000001938 RCV000200803 RCV001333150 RCV001703411 RCV001847563 RCV003258655 RCV003904794

NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)

SNV
Germline

Chr2:86282216

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA115247

rs_121918262

8 SubmittersRCV000001939 RCV000713454 RCV001003951 RCV001847564 RCV004955248

NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr2:86252037

Pathogenic

Hereditary spastic paraplegia 31
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115251

rs_121918263

7 SubmittersRCV000001940 RCV001847565 RCV002243614

NM_020435.4(GJC2):c.108C>G (p.Ile36Met)

SNV
Germline

Chr1:228157866

Pathogenic

Hereditary spastic paraplegia 44

Criteria Provided
Single Submitter

CA115336

rs_75469429

2 SubmittersRCV000002159

NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg)

SNV
Germline

Chr15:22786790

Pathogenic

Hereditary spastic paraplegia 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115591

rs_104894496

3 SubmittersRCV000002628 RCV004719611

NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)

SNV
Germline

Chr15:22812252

Pathogenic

Hereditary spastic paraplegia 6

Criteria Provided
Single Submitter

CA115593

rs_104894490

2 SubmittersRCV000002629

NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)

SNV
Germline

Chr15:22812252

Pathogenic

Hereditary spastic paraplegia 6
Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA115595

rs_104894490

14 SubmittersRCV000002631 RCV000516051 RCV000713477 RCV001003981

NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)

SNV
Germline

Chr14:50613343

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided
Neuropathy, hereditary sensory, type 1D
Hereditary spastic paraplegia 3A
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA340228

rs_119476046

22 SubmittersRCV000004594 RCV000215830 RCV000850530 RCV001003978 RCV001847579

NM_015915.5(ATL1):c.776C>A (p.Ser259Tyr)

SNV
Germline

Chr14:50614425

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA253127

rs_119476047

2 SubmittersRCV000004595

NM_015915.5(ATL1):c.773A>G (p.His258Arg)

SNV
Germline

Chr14:50614422

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA340230

rs_119476048

3 SubmittersRCV000004596

NM_015915.5(ATL1):c.650G>A (p.Arg217Gln)

SNV
Germline

Chr14:50613278

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253129

rs_119476049

4 SubmittersRCV000004597 RCV001725929

NM_015915.5(ATL1):c.1222A>G (p.Met408Val)

SNV
Germline

Chr14:50628133

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA340232

rs_28939094

4 SubmittersRCV000004599

NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)

SNV
Germline

Chr14:50628154

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204596

rs_119476050

13 SubmittersRCV000004600 RCV000190652 RCV001090532

NM_015915.5(ATL1):c.470T>G (p.Leu157Trp)

SNV
Germline

Chr14:50591587

Pathogenic

Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

CA340234

rs_119476051

2 SubmittersRCV000004601

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
Neuronopathy, distal hereditary motor, type 5A
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Abnormal central motor function
Berardinelli-Seip congenital lipodystrophy
BSCL2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116912

rs_137852973

13 SubmittersRCV000004803 RCV000235980 RCV000547334 RCV000755016 RCV001270681 RCV001813950 RCV003311647 RCV004766979

NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)

SNV
Germline

Chr13:23336372

Pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA340433

rs_281865118

12 SubmittersRCV000005848 RCV001268308 RCV001847584 RCV001851681

NM_014946.4(SPAST):c.1085C>G (p.Ser362Cys)

SNV
Germline

Chr2:32116199

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA253546

rs_121908509

1 SubmittersRCV000006011

NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr)

SNV
Germline

Chr2:32136898

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253548

rs_121908510

3 SubmittersRCV000006012 RCV004589497

NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)

SNV
Germline

Chr2:32141905

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Spastic paraparesis
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA253551

rs_121908511

12 SubmittersRCV000006014 RCV000415256 RCV000523541 RCV001847585

NM_014946.4(SPAST):c.1688-2A>G

SNV
Germline

Chr2:32147216

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253553

rs_587777752

4 SubmittersRCV000006015 RCV001091365

NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)

SNV
Germline

Chr2:32136877

Pathogenic

Hereditary spastic paraplegia 4
Tics
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253555

rs_121908512

5 SubmittersRCV000006018 RCV001849258 RCV004719628

NM_014946.4(SPAST):c.1728+1G>C

SNV
Germline

Chr2:32147259

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA253557

rs_587777754

1 SubmittersRCV000006019

NM_014946.4(SPAST):c.1245+4A>G

SNV
Germline

Chr2:32128483

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253558

rs_587777755

3 SubmittersRCV000006020 RCV003225018

NM_014946.4(SPAST):c.1031T>A (p.Ile344Lys)

SNV
Germline

Chr2:32116145

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA253560

rs_121908513

1 SubmittersRCV000006022

NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)

SNV
Germline

Chr2:32127006

Pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA253562

rs_121908514

3 SubmittersRCV000006023 RCV001847586

NM_014946.4(SPAST):c.1409A>T (p.Asp470Val)

SNV
Germline

Chr2:32136964

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA253564

rs_121908516

1 SubmittersRCV000006024

NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)

SNV
Germline

Chr2:32063965

Conflicting classifications of pathogenicity

Spastic paraplegia 4, modifier of
Condition: not provided
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA117671

rs_121908517

8 SubmittersRCV000006026 RCV000584902 RCV000845266 RCV001847588 RCV004998076

NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly)

SNV
Germline

Chr2:32145004

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA253566

rs_121908518

2 SubmittersRCV000006027

NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)

SNV
Germline

Chr2:32128450

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA253568

rs_587777757

7 SubmittersRCV000006029 RCV000497406 RCV001847589

NM_014946.4(SPAST):c.1335C>A (p.Ser445Arg)

SNV
Germline

Chr2:32136890

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA253570

rs_121908519

1 SubmittersRCV000006030

NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)

SNV
Germline

Chr8:64604753

Pathogenic

Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA117938

rs_72554620

5 SubmittersRCV000006474 RCV000006473 RCV000800899

NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)

SNV
Germline

Chr8:64604827

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA210940

rs_121908610

4 SubmittersRCV000006475 RCV001847590 RCV003750776

NM_004820.5(CYP7B1):c.169G>A (p.Gly57Arg)

SNV
Germline

Chr8:64624493

Pathogenic

Hereditary spastic paraplegia 5A

No Assertion Criteria Provided

CA210941

rs_121908614

1 SubmittersRCV000006476

NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)

SNV
Germline

Chr8:64596913

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
CYP7B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210942

rs_121908611

7 SubmittersRCV000006477 RCV000206595 RCV000329074 RCV001847591 RCV003894794

NM_004820.5(CYP7B1):c.647T>C (p.Phe216Ser)

SNV
Germline

Chr8:64615894

Pathogenic

Hereditary spastic paraplegia 5A

No Assertion Criteria Provided

CA210943

rs_121908612

1 SubmittersRCV000006478

NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)

SNV
Germline

Chr8:64615716

Pathogenic

Hereditary spastic paraplegia 5A
Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA210944

rs_121908613

12 SubmittersRCV000006479 RCV000260437 RCV000515995 RCV000553161

NM_004820.5(CYP7B1):c.1408T>A (p.Phe470Ile)

SNV
Germline

Chr8:64596755

Pathogenic

Hereditary spastic paraplegia 5A

No Assertion Criteria Provided

CA210946

rs_267606758

1 SubmittersRCV000006480

NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)

SNV
Germline

Chr8:64596707

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3
CYP7B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210948

rs_116171274

23 SubmittersRCV000006481 RCV000197085 RCV000290486 RCV000516130 RCV002476935 RCV003398453

NM_004733.4(SLC33A1):c.339T>G (p.Ser113Arg)

SNV
Germline

Chr3:155853659

Pathogenic

Hereditary spastic paraplegia 42

No Assertion Criteria Provided

CA117967

rs_121909484

1 SubmittersRCV000006506

NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)

SNV
Germline

Chr19:7556507

Pathogenic

Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome

No Assertion Criteria Provided

CA118368

rs_121434415

2 SubmittersRCV000006984 RCV001559128

NM_001166114.2(PNPLA6):c.2783G>A (p.Arg928His)

SNV
Germline

Chr19:7555041

Pathogenic

Hereditary spastic paraplegia 39

No Assertion Criteria Provided

CA118370

rs_121434416

1 SubmittersRCV000006985

NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)

SNV
Germline

Chr12:57569015

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA118520

rs_121434441

2 SubmittersRCV000007208

NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)

SNV
Germline

Chr12:57569274

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA118521

rs_121434442

7 SubmittersRCV000007209 RCV001387529 RCV000993045 RCV001847593

NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)

SNV
Germline

Chr12:57569263

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
KIF5A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA118522

rs_121434443

4 SubmittersRCV000007210 RCV000518461 RCV000534416 RCV004766984

NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)

SNV
Germline

Chr12:57569648

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
KIF5A-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA118523

rs_121434444

5 SubmittersRCV000007211 RCV001066186 RCV004737140 RCV003456358 RCV001175553

NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)

SNV
Germline

Chr16:89553932

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA253965

rs_121918357

2 SubmittersRCV000007217

NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)

SNV
Germline

Chr16:89510539

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Proximal spinal muscular atrophy
Hereditary spastic paraplegia
SPG7-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253966

rs_121918358

23 SubmittersRCV000007218 RCV000200640 RCV000664258 RCV001847594 RCV004752689 RCV004814852

NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)

SNV
Germline

Chr16:89531961

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
SPG7-related disorder
Inborn genetic diseases
Retinal dystrophy
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA253968

rs_141659620

35 SubmittersRCV000007221 RCV000198037 RCV004752690 RCV002512867 RCV004814853 RCV001847595

NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)

SNV
Germline

Chr16:89550579

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253969

rs_267607085

7 SubmittersRCV000007222 RCV000996411

NC_012920.1(MT-TK):m.8344A>G

SNV
Germline

ChrMT:8344

Pathogenic

MERRF syndrome
Parkinson disease, mitochondrial
Leigh syndrome
Condition: not provided
Mitochondrial disease
MELAS syndrome
MT-TK-related mitochondrial disorder
MT-TK-related disorder
Complex hereditary spastic paraplegia

Reviewed By Expert Panel

CA254836

rs_118192098

14 SubmittersRCV000010192 RCV000010194 RCV000010193 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290 RCV004766996

NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)

SNV
Germline

ChrX:103785621

Pathogenic/Likely pathogenic

Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA255678

rs_11543022

3 SubmittersRCV000011824 RCV001851798

NM_000533.5(PLP1):c.560T>C (p.Ile187Thr)

SNV
Germline

ChrX:103787904

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA255701

rs_132630288

3 SubmittersRCV000011834 RCV004595482

NM_000533.5(PLP1):c.3G>A (p.Met1Ile)

SNV
Germline

ChrX:103776998

Pathogenic

Pelizaeus-Merzbacher disease, mild
Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA121352

rs_132630290

2 SubmittersRCV000011836 RCV001851799

NM_000533.5(PLP1):c.710T>C (p.Phe237Ser)

SNV
Germline

ChrX:103789346

Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Single Submitter

CA255707

rs_132630291

2 SubmittersRCV000011838 RCV004595483

NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)

SNV
Germline

ChrX:103786707

Pathogenic/Likely pathogenic

Pelizaeus-Merzbacher disease, atypical
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA121354

rs_132630292

3 SubmittersRCV000011839 RCV000801130 RCV004595484

NM_000533.5(PLP1):c.509C>T (p.Ser170Phe)

SNV
Germline

ChrX:103787853

Likely pathogenic

Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Single Submitter

CA255710

rs_132630294

2 SubmittersRCV000011841 RCV001786328

NM_000533.5(PLP1):c.409C>T (p.Arg137Trp)

SNV
Germline

ChrX:103786682

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Conflicting Classifications

CA255713

rs_132630295

3 SubmittersRCV000011847 RCV004595485

NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)

SNV
Germline

Chr15:89327201

Pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Condition: not provided
POLG-Related Spectrum Disorders
Mitochondrial disease
6 conditions
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Hereditary spastic paraplegia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Neurodevelopmental delay
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA123140

rs_113994095

45 SubmittersRCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000184011 RCV000188658 RCV000347876 RCV000508942 RCV000515354 RCV001004604 RCV001095683 RCV001198082 RCV001376079 RCV001731286 RCV001847600 RCV001813983 RCV002273931 RCV002316195

NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)

SNV
Germline

Chr15:89321792

Pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Condition: not provided
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
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
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
6 conditions
Mitochondrial disease
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA123144

rs_113994098

37 SubmittersRCV000014449 RCV000014450 RCV000014451 RCV000014452 RCV000188580 RCV001027839 RCV000678386 RCV002054437 RCV003230362 RCV000363602 RCV001847601 RCV000515163 RCV002272018 RCV002313707 RCV003231103

NM_002693.3(POLG):c.752C>T (p.Thr251Ile)

SNV
Germline

Chr15:89330184

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 1
Progressive sclerosing poliodystrophy
Condition: not provided
not specified
POLG-Related Spectrum Disorders
Global developmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Tip-toe gait
Abnormality of the nervous system
POLG-related disorder
Hereditary spastic paraplegia
Mitochondrial disease
Hypertrophic cardiomyopathy
Inborn genetic diseases
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
See cases

Criteria Provided
Conflicting Classifications

CA123142

rs_11394094

47 SubmittersRCV000014448 RCV000014447 RCV000020484 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001642225 RCV001678594 RCV001813985 RCV001813742 RCV001847602 RCV002272019 RCV002319423 RCV002313708 RCV003458331 RCV004584325

NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)

SNV
Germline

Chr15:89325639

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
not specified
Progressive sclerosing poliodystrophy
Global developmental delay
Condition: not provided
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Tip-toe gait
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder
Hereditary spastic paraplegia
Abnormality of the nervous system
Hypertrophic cardiomyopathy
Inborn genetic diseases
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
See cases

Criteria Provided
Conflicting Classifications

CA123146

rs_113994096

50 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000408293 RCV000415307 RCV000427845 RCV000508752 RCV001004602 RCV001610290 RCV001642226 RCV001813743 RCV001847603 RCV001813986 RCV002319424 RCV002313709 RCV003458332 RCV004584326

NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)

SNV
Germline

Chr15:89323460

Pathogenic/Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Inborn genetic diseases
Hereditary spastic paraplegia
Tip-toe gait
POLG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA201029

rs_121918054

32 SubmittersRCV000014467 RCV000188568 RCV000233045 RCV000370280 RCV000508744 RCV000768053 RCV001004601 RCV001813987 RCV002316196 RCV001847605 RCV003318542 RCV003985721

NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)

SNV
Germline

Chr20:58905443

Pathogenic

Pseudohypoparathyroidism
Hereditary spastic paraplegia 4
Condition: not provided
Pseudohypoparathyroidism type I A

Criteria Provided
Multiple Submitters
No Conflicts

CA126062

rs_137854532

6 SubmittersRCV000017286 RCV001729350 RCV002054444 RCV002288507

NM_002156.5(HSPD1):c.292G>A (p.Val98Ile)

SNV
Germline

Chr2:197497275

Pathogenic

Hereditary spastic paraplegia 13

Criteria Provided
Single Submitter

CA127251

rs_66468541

2 SubmittersRCV000019112

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 Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292863

rs_2307437

17 SubmittersRCV000127555 RCV000468571 RCV000710190 RCV001121509 RCV001847613 RCV002371780 RCV004732552

NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)

SNV
Germline

Chr14:50591584

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342181

rs_137852657

4 SubmittersRCV000020721 RCV000713455

NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)

SNV
Germline

Chr2:240788118

Pathogenic

Intellectual disability, autosomal dominant 9
PEHO syndrome
Condition: not provided
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA212601

rs_387906799

10 SubmittersRCV000023087 RCV000207102 RCV000235916 RCV000690609 RCV004541014

NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)

SNV
Germline

Chr7:100104125

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
Spastic paraplegia
AP-4 deficiency syndrome

Criteria Provided
Conflicting Classifications

CA342728

rs_387906838

4 SubmittersRCV000023191 RCV001849279 RCV002272028

NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)

SNV
Germline

Chr14:50587992

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 1D
Condition: not provided
Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA129352

rs_200314808

6 SubmittersRCV000023543 RCV000236565 RCV000543629 RCV002415427

NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)

SNV
Germline

Chr14:50628157

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Inborn genetic diseases
Hereditary spastic paraplegia
Condition: not provided
Neuropathy, hereditary sensory, type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA259834

rs_387906941

7 SubmittersRCV000023545 RCV002513195 RCV001847621 RCV002285257 RCV004767019

NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)

SNV
Germline

Chr16:74719071

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA259927

rs_387907039

5 SubmittersRCV000023855 RCV001797590 RCV002509169

NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)

SNV
Germline

Chr16:74727290

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Spastic paraplegia
Neurodegeneration with brain iron accumulation

Criteria Provided
Conflicting Classifications

CA259930

rs_387907040

6 SubmittersRCV000023857 RCV000483483 RCV002513207 RCV003317044

NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)

SNV
Germline

Chr14:67772109

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA129542

rs_387907057

3 SubmittersRCV000023921 RCV001852032

NM_031448.6(C19orf12):c.-2C>T

SNV
Germline

Chr19:29708415

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Condition: not provided
Abnormality of iron homeostasis
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA342784

rs_397514477

11 SubmittersRCV000024152 RCV000426086 RCV001004003 RCV003743545 RCV004700277

NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)

SNV
Germline

Chr19:29702966

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Dystonic disorder
Tremor
Mental deterioration
Adult-onset night blindness
Peripheral visual field loss
Hereditary spastic paraplegia 43
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA345637

rs_515726205

9 SubmittersRCV000024153 RCV000414809 RCV000528859 RCV001781312 RCV003230372

NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)

SNV
Germline

Chr19:29702747

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Dystonic disorder
Tremor
Mental deterioration
Adult-onset night blindness
Peripheral visual field loss
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 5A
Condition: not provided
not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 43

Criteria Provided
Conflicting Classifications

CA259994

rs_146170087

15 SubmittersRCV000024154 RCV000415210 RCV000509226 RCV000714889 RCV000553096 RCV001844017 RCV001847623 RCV001083182

NM_024306.5(FA2H):c.707T>C (p.Phe236Ser)

SNV
Germline

Chr16:74719067

Pathogenic

Hereditary spastic paraplegia 35

No Assertion Criteria Provided

CA260036

rs_387907172

1 SubmittersRCV000024321

NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)

SNV
Germline

Chr2:240773246

Likely pathogenic

Hereditary spastic paraplegia 30
Spastic paraplegia 30b, autosomal recessive

Criteria Provided
Single Submitter

CA130024

rs_387907259

2 SubmittersRCV000030681 RCV004584597

NM_006070.6(TFG):c.854C>T (p.Pro285Leu)

SNV
Germline

Chr3:100748182

Pathogenic/Likely pathogenic

Hereditary motor and sensory neuropathy, Okinawa type
Condition: not provided
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
See cases
Amyotrophic Lateral Sclerosis with Sensory Neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA130077

rs_207482230

7 SubmittersRCV000030736 RCV000218755 RCV000642397 RCV002251934 RCV001095428

NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr12:57568999

Pathogenic

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Myoclonus, intractable, neonatal

Criteria Provided
Multiple Submitters
No Conflicts

CA130084

rs_387907285

7 SubmittersRCV000030758 RCV000205648 RCV000756292 RCV004767023

NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)

SNV
Germline

Chr12:57576825

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA130085

rs_387907286

4 SubmittersRCV000030759 RCV000498777 RCV001852613 RCV004525859

NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)

SNV
Germline

Chr12:57567515

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Myoclonus, intractable, neonatal
KIF5A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130087

rs_387907287

12 SubmittersRCV000030760 RCV000168349 RCV001682718 RCV001196631 RCV002468980

NM_004984.4(KIF5A):c.839G>A (p.Arg280His)

SNV
Germline

Chr12:57569275

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 10
Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided
Demyelinating peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA130088

rs_387907288

10 SubmittersRCV000030761 RCV000515919 RCV001061322 RCV001268862 RCV002051649

NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu)

SNV
Germline

Chr12:57567608

Likely pathogenic

Hereditary spastic paraplegia 10
Condition: not provided

Criteria Provided
Single Submitter

CA130089

rs_387907289

2 SubmittersRCV000030762 RCV004719665

NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)

SNV
Germline

Chr4:107945426

Pathogenic/Likely pathogenic

Global developmental delay
Neurodegeneration
Spastic paraplegia
Hereditary spastic paraplegia 56
Condition: not provided
CYP2U1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130341

rs_397514513

11 SubmittersRCV000162142 RCV000162185 RCV000032696 RCV000442087 RCV004751232

NM_183075.3(CYP2U1):c.1139A>G (p.Glu380Gly)

SNV
Germline

Chr4:107947388

Pathogenic

Hereditary spastic paraplegia 56

No Assertion Criteria Provided

CA130342

rs_397514514

1 SubmittersRCV000032697

NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)

SNV
Germline

Chr4:107945263

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Multiple Submitters
No Conflicts

CA130343

rs_397514515

3 SubmittersRCV000032699

NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)

SNV
Germline

Chr4:107950250

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 56
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130344

rs_141431913

6 SubmittersRCV000032700 RCV000814689 RCV001847627 RCV002264909

NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)

SNV
Germline

Chr12:123256924

Pathogenic

Hereditary spastic paraplegia 55
Condition: not provided
Spastic paraplegia
Combined oxidative phosphorylation defect type 7

Criteria Provided
Multiple Submitters
No Conflicts

CA130375

rs_397514539

4 SubmittersRCV000032782 RCV000733240 RCV002228073

NM_001160148.2(DDHD1):c.1766G>A (p.Arg589Gln)

SNV
Germline

Chr14:53062943

Pathogenic

Hereditary spastic paraplegia 28

No Assertion Criteria Provided

rs_1446744416

1 SubmittersRCV000032875

NM_001160148.2(DDHD1):c.1249C>T (p.Gln417Ter)

SNV
Germline

Chr14:53091825

Pathogenic

Hereditary spastic paraplegia 28

No Assertion Criteria Provided

rs_2139675094

1 SubmittersRCV000032877

NM_001160148.2(DDHD1):c.2522-1G>T

SNV
Germline

Chr14:53046950

Pathogenic

Hereditary spastic paraplegia 28

No Assertion Criteria Provided

rs_2139806225

1 SubmittersRCV000032878

NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)

SNV
Germline

Chr8:38253642

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 54
Obesity
Global developmental delay
Generalized epilepsy
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA130449

rs_375168720

13 SubmittersRCV000032883 RCV000449619 RCV001569601 RCV001847628 RCV004975267

NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter)

SNV
Germline

Chr8:38252216

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA130451

rs_373856119

4 SubmittersRCV000032884

NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)

SNV
Germline

Chr8:38245752

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 54
Condition: not provided

No Assertion Criteria Provided

CA130453

rs_398122826

4 SubmittersRCV000032885 RCV001529426

NM_152415.3(VPS37A):c.1146A>T (p.Lys382Asn)

SNV
Germline

Chr8:17286379

Pathogenic

Hereditary spastic paraplegia 53

No Assertion Criteria Provided

CA213061

rs_211694394

1 SubmittersRCV000032956

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

SNV
Germline

Chr15:44651712

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA344293

rs_312262723

6 SubmittersRCV000034170

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

SNV
Germline

Chr15:44649013

Pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA344297

rs_312262726

4 SubmittersRCV000034173 RCV001847631

NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)

SNV
Germline

Chr15:44633561

Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Single Submitter

CA344304

rs_312262732

2 SubmittersRCV000034180 RCV003441725

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.2198T>G (p.Leu733Ter)

SNV
Germline

Chr15:44626377

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

No Assertion Criteria Provided

CA277006

rs_312262739

2 SubmittersRCV000034188 RCV000192703

NM_025137.4(SPG11):c.2316+1G>A

SNV
Germline

Chr15:44622727

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
SPG11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344315

rs_312262740

9 SubmittersRCV000034189 RCV000713416 RCV001847632 RCV004748544

NM_025137.4(SPG11):c.2444+1G>C

SNV
Germline

Chr15:44622219

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA344317

rs_312262743

3 SubmittersRCV000034191

NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)

SNV
Germline

Chr15:44621771

Pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA344320

rs_312262745

2 SubmittersRCV000034194 RCV004799754

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277361

rs_312262709

9 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485

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

SNV
Germline

Chr15:44620191

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA344327

rs_312262748

2 SubmittersRCV000034199

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344329

rs_312262749

7 SubmittersRCV000034200 RCV001836722 RCV003458191

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.349G>T (p.Glu117Ter)

SNV
Germline

Chr15:44660525

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA344333

rs_312262711

2 SubmittersRCV000034207

NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)

SNV
Germline

Chr15:44589312

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Single Submitter

CA344349

rs_312262762

2 SubmittersRCV000034220 RCV004794351

NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)

SNV
Germline

Chr15:44584210

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344354

rs_312262767

5 SubmittersRCV000034225 RCV000731318

NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)

SNV
Germline

Chr15:44574934

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277266

rs_200793464

4 SubmittersRCV000034234 RCV000194146 RCV000255514

NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)

SNV
Germline

Chr15:44573661

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA344370

rs_147713329

11 SubmittersRCV000034241 RCV001092496 RCV001331384 RCV001847636

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

SNV
Germline

Chr15:44573595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA344372

rs_149003934

7 SubmittersRCV000034242 RCV000594035 RCV002467534 RCV002467533 RCV002477051

NM_025137.4(SPG11):c.6206-1G>C

SNV
Germline

Chr15:44572821

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA344374

rs_312262778

2 SubmittersRCV000034243

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

SNV
Germline

Chr15:44570521

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

CA344377

rs_312262780

6 SubmittersRCV000034246 RCV001847637 RCV002467536 RCV002467535

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344384

rs_312262785

10 SubmittersRCV000034254 RCV001546365 RCV001847638 RCV002362611 RCV004767030

NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)

SNV
Germline

Chr15:44564675

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA344390

rs_80338869

6 SubmittersRCV000034258 RCV000421146 RCV001847639

NM_025137.4(SPG11):c.869+1G>A

SNV
Germline

Chr15:44657094

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA344399

rs_312262721

4 SubmittersRCV000034268

NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)

SNV
Germline

Chr15:44648976

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344461

rs_312262728

5 SubmittersRCV000034301 RCV001092499

NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)

SNV
Germline

Chr9:35738811

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 46
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA130873

rs_398123012

3 SubmittersRCV000034369 RCV000515985

NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr9:35741758

Pathogenic

Hereditary spastic paraplegia 46
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130874

rs_398123013

4 SubmittersRCV000034370 RCV001268639

NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr9:35740833

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 46

Criteria Provided
Multiple Submitters
No Conflicts

CA130876

rs_398123014

3 SubmittersRCV001043691 RCV000034373

NM_020944.3(GBA2):c.2618G>A (p.Arg873His)

SNV
Germline

Chr9:35737335

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 46
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA130878

rs_398123015

3 SubmittersRCV000034374 RCV000515888

NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)

SNV
Germline

Chr16:89546737

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Spastic Paraplegia, Recessive
Hereditary spastic paraplegia
Inborn genetic diseases
Dysarthria
Gait ataxia
Cerebral cortical atrophy
Spastic paraparesis
Optic nerve hypoplasia
Intellectual disability
Spastic ataxia
Sensorimotor neuropathy
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
SPG7-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA090884

rs_61755320

62 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935

NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)

SNV
Germline

Chr9:92719122

Conflicting classifications of pathogenicity

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

CA143972

rs_398123031

2 SubmittersRCV000049278 RCV003311674

NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)

SNV
Germline

Chr14:50628155

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA264213

rs_397514712

4 SubmittersRCV000050231 RCV000480817

NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)

SNV
Germline

Chr12:57630182

Pathogenic

Hereditary spastic paraplegia 26

Criteria Provided
Multiple Submitters
No Conflicts

CA144547

rs_398122382

4 SubmittersRCV000054420

NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr12:57631225

Pathogenic

Hereditary spastic paraplegia 26
Condition: not provided

Criteria Provided
Single Submitter

CA10575594

rs_879255241

2 SubmittersRCV000054422 RCV000760467

NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)

SNV
Germline

Chr12:57627704

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 26

No Assertion Criteria Provided

CA10575595

rs_879255242

2 SubmittersRCV000054423

NM_015375.3(DSTYK):c.654+1G>A

SNV
Germline

Chr1:205187417

Conflicting classifications of pathogenicity

Congenital anomalies of kidney and urinary tract 1
Condition: not provided
Hereditary spastic paraplegia 23
DSTYK-related disorder

Criteria Provided
Conflicting Classifications

CA1353006

rs_201091809

4 SubmittersRCV000054497 RCV001853078 RCV003387748 RCV003905015

NM_002693.3(POLG):c.1550G>T (p.Gly517Val)

SNV
Germline

Chr15:89326947

Conflicting classifications of pathogenicity

Mitochondrial disease
not specified
Idiopathic camptocormia
Condition: not provided
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
Tip-toe gait
Inborn genetic diseases
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA204012

rs_61752783

24 SubmittersRCV000055881 RCV000118011 RCV000186556 RCV000223970 RCV000229511 RCV000768289 RCV001117969 RCV001352901 RCV002311532 RCV001847644 RCV003985725

NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala)

SNV
Germline

Chr8:125055601

Pathogenic

Hereditary spastic paraplegia 8

No Assertion Criteria Provided

CA345045

rs_397515564

2 SubmittersRCV000055943

NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)

SNV
Germline

Chr12:57576834

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6653063

rs_140281678

9 SubmittersRCV000389116 RCV000522245 RCV001084410 RCV001847646 RCV001287992 RCV004549495

NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)

SNV
Germline

Chr12:123256945

Likely pathogenic

Hereditary spastic paraplegia 55

Criteria Provided
Single Submitter

CA145384

rs_398122365

2 SubmittersRCV000074452

NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)

SNV
Germline

Chr19:29708260

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145387

rs_376103979

6 SubmittersRCV000074454 RCV000074453 RCV000493663

NM_007175.8(ERLIN2):c.499-1G>T

SNV
Germline

Chr8:37749793

Pathogenic

Hereditary spastic paraplegia 18

No Assertion Criteria Provided

CA145505

rs_398123002

1 SubmittersRCV000077785

NM_020944.3(GBA2):c.1780G>C (p.Asp594His)

SNV
Germline

Chr9:35739017

Likely pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

CA145524

rs_398123064

2 SubmittersRCV000077800

NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)

SNV
Germline

ChrX:153866778

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208427

rs_36021462

13 SubmittersRCV000194324 RCV000439917 RCV001083170 RCV001847649 RCV002313749

NM_000533.5(PLP1):c.737G>C (p.Gly246Ala)

SNV
Germline

ChrX:103789373

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221114

rs_398123467

3 SubmittersRCV000079102 RCV000794114 RCV004595494

NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)

SNV
Germline

ChrX:74422049

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
SLC16A2-related disorder

Criteria Provided
Conflicting Classifications

CA222960

rs_145061343

8 SubmittersRCV000514434 RCV001251643 RCV001087210 RCV001847654 RCV002362728 RCV003905062

NM_001271803.2(REEP2):c.107T>A (p.Val36Glu)

SNV
Germline

Chr5:138441386

Pathogenic

Hereditary spastic paraplegia 72

No Assertion Criteria Provided

CA149705

rs_483352923

1 SubmittersRCV003444057

NM_001351169.2(NT5C2):c.85C>T (p.Arg29Ter)

SNV
Germline

Chr10:103174874

Pathogenic

Hereditary spastic paraplegia 45
Condition: not provided

Criteria Provided
Single Submitter

CA214457

rs_587777173

2 SubmittersRCV000087268 RCV001310575

NM_001351169.2(NT5C2):c.989-1G>T

SNV
Germline

Chr10:103093310

Pathogenic

Hereditary spastic paraplegia 45

No Assertion Criteria Provided

CA10575623

rs_886037657

1 SubmittersRCV000087270

NM_001351169.2(NT5C2):c.445A>T (p.Arg149Ter)

SNV
Germline

Chr10:103101271

Pathogenic

Hereditary spastic paraplegia 45

No Assertion Criteria Provided

CA214459

rs_587777174

1 SubmittersRCV000087271

NM_001351169.2(NT5C2):c.175+1G>A

SNV
Germline

Chr10:103139405

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA10575624

rs_886037658

2 SubmittersRCV000087272

NM_006070.6(TFG):c.316C>T (p.Arg106Cys)

SNV
Germline

Chr3:100728759

Pathogenic

Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA150664

rs_587777175

6 SubmittersRCV000087273 RCV001038327 RCV001549766 RCV002321583

NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile)

SNV
Germline

Chr19:7556502

Pathogenic

Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA150705

rs_587777181

2 SubmittersRCV000087297 RCV001854508

NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)

SNV
Germline

Chr19:7557185

Conflicting classifications of pathogenicity

Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA150708

rs_587777182

3 SubmittersRCV000087299 RCV001196947 RCV002515780

NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu)

SNV
Germline

Chr19:7554578

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 39

No Assertion Criteria Provided

CA150712

rs_587777185

2 SubmittersRCV000087302

NM_006612.6(KIF1C):c.183G>A (p.Ser61=)

SNV
Germline

Chr17:5000848

Likely pathogenic

Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA10602383

rs_886041035

2 SubmittersRCV000087325 RCV001847658

NM_001776.6(ENTPD1):c.628G>A (p.Gly210Arg)

SNV
Germline

Chr10:95845411

Pathogenic

Hereditary spastic paraplegia 64

No Assertion Criteria Provided

rs_1566229309

1 SubmittersRCV000087329

NM_001776.6(ENTPD1):c.520G>T (p.Glu174Ter)

SNV
Germline

Chr10:95844582

Pathogenic

Hereditary spastic paraplegia 64

No Assertion Criteria Provided

CA214471

rs_587777200

1 SubmittersRCV000087330

NM_015214.3(DDHD2):c.1057+5C>G

SNV
Germline

Chr8:38245955

Pathogenic

Hereditary spastic paraplegia 54

No Assertion Criteria Provided

CA10575627

rs_886037659

1 SubmittersRCV000087336

NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)

SNV
Germline

Chr8:64615194

Pathogenic

Condition: not provided
CYP7B1-related disorder
Hereditary spastic paraplegia
Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA210987

rs_587777222

9 SubmittersRCV000422978 RCV003415876 RCV004782239 RCV000106302 RCV000200232

NM_002361.4(MAG):c.1288T>G (p.Cys430Gly)

SNV
Germline

Chr19:35309930

Pathogenic

Hereditary spastic paraplegia 75

No Assertion Criteria Provided

CA210989

rs_587777229

1 SubmittersRCV000106310

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
Severe neurodegenerative syndrome with lipodystrophy
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Congenital generalized lipodystrophy type 2

Criteria Provided
Conflicting Classifications

CA200862

rs_145649423

18 SubmittersRCV000116504 RCV000174173 RCV000300263 RCV000357438 RCV000664139 RCV001082147 RCV001847675 RCV002426660 RCV002498501

NM_002156.5(HSPD1):c.27C>G (p.Arg9=)

SNV
Germline

Chr2:197498822

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 13
Spastic paraplegia
Hereditary spastic paraplegia
HSPD1-related disorder

Criteria Provided
Conflicting Classifications

CA231170

rs_11551349

10 SubmittersRCV000117241 RCV000195296 RCV000295232 RCV001081749 RCV001847689 RCV003982887

NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)

SNV
Germline

Chr2:240747320

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA153360

rs_116297894

10 SubmittersRCV000117395 RCV000760168 RCV000712145 RCV001083185 RCV001847697 RCV002312170

NM_001244008.2(KIF1A):c.3202+10C>A

SNV
Germline

Chr2:240746029

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA231214

rs_190997558

5 SubmittersRCV000117404 RCV000517588 RCV001084551 RCV001136885

NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)

SNV
Germline

Chr2:240721033

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA153383

rs_371737085

11 SubmittersRCV000117405 RCV000712150 RCV001087763 RCV001136787 RCV002313903

NM_002693.3(POLG):c.264C>T (p.Phe88=)

SNV
Germline

Chr15:89333491

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA288984

rs_144439703

17 SubmittersRCV000118014 RCV000227341 RCV000436920 RCV001116623 RCV001847711 RCV002313915

NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)

SNV
Germline

Chr15:89319073

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
EEG abnormality
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Early-onset Parkinson disease 20
Inborn genetic diseases
not specified
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA231404

rs_150233690

18 SubmittersRCV000118016 RCV000234341 RCV000515366 RCV000678829 RCV000778452 RCV001847713 RCV002243762 RCV002272131 RCV002316314 RCV003330442 RCV004732689

NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)

SNV
Germline

Chr15:44598705

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA155280

rs_76389165

14 SubmittersRCV000118405 RCV000233929 RCV000514902 RCV000515991

NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)

SNV
Germline

Chr15:44572768

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA231526

rs_150761878

12 SubmittersRCV000118406 RCV000461243 RCV000609000 RCV001847726 RCV002362748 RCV003915170

NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)

SNV
Germline

Chr1:109629487

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63

Criteria Provided
Multiple Submitters
No Conflicts

CA156218

rs_587777395

5 SubmittersRCV000119282 RCV002515805 RCV003343648

NM_021830.5(TWNK):c.639C>T (p.Gly213=)

SNV
Germline

Chr10:100988849

Conflicting classifications of pathogenicity

not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA302706

rs_11542130

8 SubmittersRCV000173516 RCV000301625 RCV000305599 RCV000359159 RCV000395926 RCV000676300 RCV001847741

NM_152269.5(MTRFR):c.243C>T (p.Cys81=)

SNV
Germline

Chr12:123253917

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Combined oxidative phosphorylation defect type 7
Spastic paraplegia
Combined oxidative phosphorylation defect type 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA289763

rs_140411575

5 SubmittersRCV000124048 RCV000513045 RCV001088353 RCV001113855 RCV001847743

NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)

SNV
Germline

Chr12:123256943

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 7
Hereditary spastic paraplegia
MTRFR-related disorder

Criteria Provided
Conflicting Classifications

CA289765

rs_147328685

7 SubmittersRCV000124049 RCV000513336 RCV001081513 RCV001113859 RCV001847744 RCV003965041

NM_002693.3(POLG):c.2028G>A (p.Ala676=)

SNV
Germline

Chr15:89324149

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292825

rs_373550219

9 SubmittersRCV000127516 RCV000263177 RCV000457002 RCV000710184 RCV001847749 RCV002415616

NM_002693.3(POLG):c.2853C>T (p.Tyr951=)

SNV
Germline

Chr15:89320894

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232559

rs_41546712

12 SubmittersRCV000186650 RCV000471041 RCV000712796 RCV001116417 RCV001847751 RCV002316396

NM_002693.3(POLG):c.87C>T (p.Ser29=)

SNV
Germline

Chr15:89333668

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292838

rs_587781116

8 SubmittersRCV000127532 RCV000861520 RCV001116626 RCV001288358 RCV001847752 RCV002371969 RCV003985731

NM_002693.3(POLG):c.3198G>A (p.Thr1066=)

SNV
Germline

Chr15:89319006

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292840

rs_61752780

14 SubmittersRCV000127533 RCV000338380 RCV000475971 RCV000676319 RCV001847753 RCV002312589

NM_002693.3(POLG):c.3482+6C>T

SNV
Germline

Chr15:89318535

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA292847

rs_55779802

10 SubmittersRCV000127539 RCV000316461 RCV000559092 RCV000768049 RCV000726414 RCV001847754 RCV003441747

NM_002693.3(POLG):c.3564C>T (p.Cys1188=)

SNV
Germline

Chr15:89317455

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292854

rs_146584956

5 SubmittersRCV000127546 RCV000547592 RCV001847755 RCV003311689

NM_002693.3(POLG):c.1275C>T (p.Ala425=)

SNV
Germline

Chr15:89327325

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292871

rs_147404477

11 SubmittersRCV000127559 RCV000558064 RCV000725687 RCV001847757 RCV002371970 RCV003985732

NM_002693.3(POLG):c.1386G>A (p.Ser462=)

SNV
Germline

Chr15:89327214

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292873

rs_62640034

7 SubmittersRCV000127560 RCV000402563 RCV000758496 RCV000725999 RCV001847758 RCV003985733

NM_003119.4(SPG7):c.1032C>T (p.Gly344=)

SNV
Germline

Chr16:89531948

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA293664

rs_116319889

6 SubmittersRCV000128200 RCV000416207 RCV001081406 RCV001847760

NM_003119.4(SPG7):c.1324+10C>T

SNV
Germline

Chr16:89532646

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA293666

rs_202070075

6 SubmittersRCV000128201 RCV000713480 RCV001085222 RCV001847761

NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)

SNV
Germline

Chr16:89546665

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA345675

rs_111475461

10 SubmittersRCV000128202 RCV000585517 RCV000989665 RCV001847762

NM_003119.4(SPG7):c.1664-11C>A

SNV
Germline

Chr16:89550483

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA293669

rs_574656941

3 SubmittersRCV000128205 RCV001121647

NM_003119.4(SPG7):c.120G>A (p.Gly40=)

SNV
Germline

Chr16:89508537

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293682

rs_187330648

9 SubmittersRCV000128214 RCV000526678 RCV001847769 RCV002262748

NM_152269.5(MTRFR):c.282+2T>A

SNV
Germline

Chr12:123253958

Pathogenic

Hereditary spastic paraplegia 55

No Assertion Criteria Provided

CA170632

rs_587777668

1 SubmittersRCV000133581

NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)

SNV
Germline

Chr9:132264633

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA233108

rs_151117904

14 SubmittersRCV000143819 RCV000251546 RCV000393538 RCV000302102 RCV001080640 RCV001260210 RCV001847770

NM_006070.6(TFG):c.806G>T (p.Gly269Val)

SNV
Germline

Chr3:100744917

Pathogenic/Likely pathogenic

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57

No Assertion Criteria Provided

CA170881

rs_587777789

2 SubmittersRCV000144505 RCV004767089

NM_015915.5(ATL1):c.353G>A (p.Arg118Gln)

SNV
Germline

Chr14:50591011

Conflicting classifications of pathogenicity

Condition: not provided
Spastic Paraplegia, Recessive
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA233267

rs_606231265

3 SubmittersRCV000144894 RCV000281684 RCV002514782

NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)

SNV
Germline

Chr1:113901276

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA345963

rs_376478015

6 SubmittersRCV001797056 RCV001849319 RCV002514784 RCV000145022

NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)

SNV
Germline

ChrX:153865714

Conflicting classifications of pathogenicity

Hydrocephalus due to aqueductal stenosis
not specified
Inborn genetic diseases
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA172446

rs_149737236

5 SubmittersRCV000146245 RCV000431818 RCV002453468 RCV001847778 RCV002515965

NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)

SNV
Germline

ChrX:74525834

Pathogenic/Likely pathogenic

Allan-Herndon-Dudley syndrome
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA272490

rs_587784384

6 SubmittersRCV000147494 RCV000224827 RCV000624288 RCV001847780 RCV001226584

NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)

SNV
Germline

Chr2:240775863

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA212636

rs_672601370

14 SubmittersRCV000149482 RCV000374842 RCV000850514 RCV001847781 RCV001197350 RCV001334240 RCV000624110

NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)

SNV
Germline

Chr2:240783780

Pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA212633

rs_672601369

8 SubmittersRCV000149481 RCV000488961 RCV000850486 RCV001813759

NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)

SNV
Germline

Chr2:240785066

Pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212627

rs_672601367

5 SubmittersRCV000149479 RCV003998180 RCV001090762

NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)

SNV
Germline

Chr2:240786444

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA212621

rs_672601365

5 SubmittersRCV000149477 RCV001268733 RCV001323710 RCV001391597

NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)

SNV
Germline

Chr2:240789246

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neurodevelopmental delay
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212612

rs_672601362

9 SubmittersRCV000149474 RCV000987077 RCV001267147 RCV001386834 RCV002273964 RCV002509246

NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)

SNV
Germline

Chr12:57567598

Pathogenic

Hereditary spastic paraplegia 10

No Assertion Criteria Provided

CA174974

rs_690016545

1 SubmittersRCV000149510

NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)

SNV
Germline

ChrX:74531529

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA234943

rs_199904356

6 SubmittersRCV000153955 RCV000723786 RCV001080009 RCV002316973 RCV001847786

NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)

SNV
Germline

Chr1:109628692

Conflicting classifications of pathogenicity

Global developmental delay
Brain malformation
Seizure
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9

Criteria Provided
Conflicting Classifications

CA249914

rs_192669225

2 SubmittersRCV000162110 RCV002515123 RCV003984820

NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)

SNV
Germline

Chr7:100105981

Pathogenic

Microcephaly
CNS hypomyelination
Brain atrophy
Hypoplasia of the corpus callosum
Global developmental delay
Hereditary spastic paraplegia 50
Spastic paraplegia
Condition: not provided
AP4M1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA249973

rs_730882249

8 SubmittersRCV000162190 RCV000191923 RCV001849324 RCV001529845 RCV003390861

NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)

SNV
Germline

Chr19:29708290

Conflicting classifications of pathogenicity

Neurodegeneration
Brain iron accummulation
Condition: not provided
Hereditary spastic paraplegia
Neurodegeneration with brain iron accumulation
Hereditary spastic paraplegia 43

Criteria Provided
Conflicting Classifications

CA186055

rs_200133991

6 SubmittersRCV000162119 RCV000292174 RCV000516097 RCV003479030 RCV001231447

NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser)

SNV
Germline

Chr19:7558948

Likely pathogenic

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hereditary spastic paraplegia 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA186150

rs_142422525

4 SubmittersRCV000162353 RCV001242294 RCV001268592 RCV004815256

NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)

SNV
Germline

Chr19:7556710

Pathogenic

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Condition: not provided
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Multiple Submitters
No Conflicts

CA186152

rs_786201037

4 SubmittersRCV000162354 RCV001092940 RCV001559129 RCV002515124

NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)

SNV
Germline

Chr2:240788208

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA346824

rs_786200949

6 SubmittersRCV000167867 RCV000693147 RCV000762334 RCV001078152

NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser)

SNV
Germline

Chr2:197493399

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 13

Criteria Provided
Conflicting Classifications

CA334242

rs_149003485

2 SubmittersRCV000168086 RCV001140948

NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)

SNV
Germline

Chr2:32127014

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA334274

rs_786204132

2 SubmittersRCV000168104

NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)

SNV
Germline

Chr2:32136608

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA334245

rs_786204126

13 SubmittersRCV000168087 RCV000579036 RCV001847790

NM_014946.4(SPAST):c.1414-1G>C

SNV
Germline

Chr2:32137108

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA334385

rs_786204163

2 SubmittersRCV000168164

NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu)

SNV
Germline

Chr2:32144957

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA333996

rs_786204057

1 SubmittersRCV000167918

NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter)

SNV
Germline

Chr2:86251959

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA334086

rs_786204081

1 SubmittersRCV000167976

NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)

SNV
Germline

Chr14:67754144

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA334653

rs_151166497

7 SubmittersRCV000168361 RCV000660475 RCV000421762 RCV001079938 RCV001847797

NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)

SNV
Germline

Chr14:67767816

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA334145

rs_34952009

6 SubmittersRCV000168014 RCV000437692 RCV001082302 RCV001118126 RCV001847789

NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)

SNV
Germline

Chr14:67789467

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA334610

rs_116890187

9 SubmittersRCV000435814 RCV000439576 RCV001115192 RCV001082969 RCV001847795

NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)

SNV
Germline

Chr14:67805304

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA334758

rs_35512910

7 SubmittersRCV000279394 RCV000517033 RCV000512998 RCV001082592 RCV001847798 RCV003927560

NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)

SNV
Germline

Chr15:44564629

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
SPG11-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA334634

rs_139334167

10 SubmittersRCV000710226 RCV001083164 RCV002362862 RCV003917575 RCV001847796

NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)

SNV
Germline

Chr15:44572802

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA208997

rs_140824939

16 SubmittersRCV000194672 RCV002362861 RCV000168174 RCV001847791 RCV000512885 RCV003917574

NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)

SNV
Germline

Chr15:44615524

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA235929

rs_786204176

3 SubmittersRCV000168213 RCV000171235

NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)

SNV
Germline

Chr16:89550502

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Mitochondrial disease
Hereditary spastic paraplegia
Inborn genetic diseases
SPG7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA334497

rs_369227537

15 SubmittersRCV000168257 RCV000413970 RCV000508922 RCV001847793 RCV002515187 RCV003416049

NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys)

SNV
Germline

Chr19:49692361

Pathogenic

Hereditary spastic paraplegia 73

No Assertion Criteria Provided

CA199135

rs_786204767

1 SubmittersRCV000169633

NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)

SNV
Germline

Chr14:50620724

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA235905

rs_786205487

1 SubmittersRCV000171222 RCV003987402

NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)

SNV
Germline

Chr2:240788191

Conflicting classifications of pathogenicity

Condition: not provided
KIF1A-related disorder
Intellectual disability, autosomal dominant 9
not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA236139

rs_778224699

9 SubmittersRCV000171342 RCV004737262 RCV000626085 RCV004782279 RCV000639785 RCV001391594

NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr)

SNV
Germline

Chr8:125059395

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA236317

rs_749056160

2 SubmittersRCV000171420 RCV001158802

NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)

SNV
Germline

Chr9:35737405

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 46

Criteria Provided
Conflicting Classifications

CA236323

rs_752274637

2 SubmittersRCV000171423 RCV003133160

NM_000533.5(PLP1):c.650G>A (p.Gly217Asp)

SNV
Germline

ChrX:103788464

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA236360

rs_786205605

1 SubmittersRCV000171442 RCV003984826

NM_003119.4(SPG7):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:89508418

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
SPG7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274907

rs_794726906

6 SubmittersRCV000173302 RCV001852108 RCV003416067

NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)

SNV
Germline

Chr13:23339800

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA208864

rs_146451611

16 SubmittersRCV000710206 RCV001847803 RCV000194599 RCV001082339 RCV000515329 RCV003937553

NM_014363.6(SACS):c.13717A>C (p.Asn4573His)

SNV
Germline

Chr13:23330159

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA239310

rs_34382952

17 SubmittersRCV000488235 RCV000515968 RCV000674768 RCV001082378 RCV000254363

NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)

SNV
Germline

Chr13:23335003

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA200741

rs_11839380

11 SubmittersRCV001084232 RCV000173862 RCV000224353 RCV001274927 RCV001847804

NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)

SNV
Germline

Chr14:67798195

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA200844

rs_141880939

6 SubmittersRCV000174133 RCV000710227 RCV001119875 RCV001083591

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_015915.5(ATL1):c.1200G>A (p.Lys400=)

SNV
Germline

Chr14:50628111

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA239909

rs_144792471

4 SubmittersRCV000724714 RCV001081632 RCV002345600

NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)

SNV
Germline

Chr15:44615364

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA201295

rs_111347025

14 SubmittersRCV000204165 RCV001260215 RCV000175101 RCV002262769 RCV001847810

NM_002693.3(POLG):c.32G>A (p.Gly11Asp)

SNV
Germline

Chr15:89333723

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Inborn genetic diseases
Intellectual disability
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
not specified
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA302812

rs_765472726

15 SubmittersRCV000724132 RCV000763999 RCV002453618 RCV001252351 RCV000633544 RCV001116627 RCV004526626 RCV001847811 RCV003985740

NM_003119.4(SPG7):c.234G>T (p.Leu78Phe)

SNV
Germline

Chr16:89510540

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA241505

rs_770487062

3 SubmittersRCV000175748 RCV002056943

NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)

SNV
Germline

Chr2:240745853

Conflicting classifications of pathogenicity

not specified
Condition: not provided
History of neurodevelopmental disorder
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA202153

rs_143037290

15 SubmittersRCV000176875 RCV000415745 RCV000715995 RCV000987072 RCV001084426 RCV001847816

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
POLG-related disorder
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases
Tip-toe gait
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA202319

rs_61752784

20 SubmittersRCV000177165 RCV000233823 RCV000415771 RCV000709833 RCV000768291 RCV001121511 RCV001847817 RCV002312719 RCV002227084 RCV002516726

NM_002693.3(POLG):c.1174C>G (p.Leu392Val)

SNV
Germline

Chr15:89328532

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
6 conditions
Condition: not provided
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA246660

rs_145289229

14 SubmittersRCV000188651 RCV000475753 RCV000515415 RCV000710181 RCV001119511 RCV001847818 RCV002317054 RCV003985741

NM_015915.5(ATL1):c.631-7T>A

SNV
Germline

Chr14:50613252

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A
ATL1-related disorder

Criteria Provided
Conflicting Classifications

CA247289

rs_186528086

4 SubmittersRCV000724713 RCV001081633 RCV003947533

NM_003119.4(SPG7):c.1083G>A (p.Ala361=)

SNV
Germline

Chr16:89531999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Conflicting Classifications

CA247608

rs_114135540

7 SubmittersRCV000195569 RCV000724712 RCV001085115 RCV001847819 RCV003937635

NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)

SNV
Germline

Chr11:62690840

Conflicting classifications of pathogenicity

Neurologic Disorders/Seipinopathy
Congenital generalized lipodystrophy
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248240

rs_144245125

11 SubmittersRCV000271246 RCV000328674 RCV000657059 RCV001001623 RCV001087807 RCV001847821 RCV002444724

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_001010867.4(IBA57):c.678A>G (p.Gln226=)

SNV
Germline

Chr1:228175028

Pathogenic

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Single Submitter

CA10575730

rs_876657407

3 SubmittersRCV000185609 RCV004767125

NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)

SNV
Germline

Chr15:89317433

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA316786

rs_765344513

4 SubmittersRCV000188628 RCV000758333 RCV001847833

NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)

SNV
Germline

Chr15:89317460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA316784

rs_369544574

10 SubmittersRCV000188627 RCV000633564 RCV000712805 RCV001847832 RCV002453696 RCV003985759

NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)

SNV
Germline

Chr15:89320857

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Spinocerebellar atrophy
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
not specified
Inborn genetic diseases
MELAS syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-related disorder
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA316719

rs_201477273

20 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001808469 RCV001847830 RCV002247604 RCV002317145 RCV003232987 RCV003992217 RCV004732762 RCV004796080

NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)

SNV
Germline

Chr15:89321780

Pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
Intellectual disability
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA316701

rs_144500145

15 SubmittersRCV000188581 RCV000633537 RCV000762953 RCV001252349 RCV001847829 RCV002517007 RCV004526636 RCV004786515

NM_002693.3(POLG):c.1808T>C (p.Met603Thr)

SNV
Germline

Chr15:89325591

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA316846

rs_367610201

6 SubmittersRCV000188667 RCV001348402 RCV001814096 RCV001847837 RCV003226244

NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)

SNV
Germline

Chr15:89327198

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Lennox-Gastaut syndrome
6 conditions
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Hereditary spastic paraplegia
Inborn genetic diseases
not specified
POLG-related disorder
Mitochondrial disease
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA316834

rs_145843073

24 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001004603 RCV001027840 RCV001117972 RCV001330959 RCV001610504 RCV001847836 RCV002314743 RCV003230444 RCV004725036 RCV004786516 RCV004799199

NM_002693.3(POLG):c.830A>T (p.His277Leu)

SNV
Germline

Chr15:89330106

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
Tip-toe gait
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA316810

rs_138929605

18 SubmittersRCV000188643 RCV000231645 RCV000396333 RCV000616176 RCV001004406 RCV001847834 RCV002226693 RCV002514036 RCV003235111

NM_002693.3(POLG):c.125G>A (p.Arg42Gln)

SNV
Germline

Chr15:89333630

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316606

rs_74382477

5 SubmittersRCV000545670 RCV000676334 RCV001847824 RCV003985745

NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)

SNV
Germline

Chr2:240785063

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
PEHO syndrome
Hereditary spastic paraplegia 30
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Syndromic intellectual disability
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA204974

rs_797045164

11 SubmittersRCV000191020 RCV000207243 RCV001255726 RCV001269905 RCV001389787 RCV001796966 RCV002514079

NM_015915.5(ATL1):c.596T>A (p.Leu199Gln)

SNV
Germline

Chr14:50595598

Pathogenic

Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

CA275969

rs_797045004

1 SubmittersRCV000190502

NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)

SNV
Germline

Chr2:240741350

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spastic Paraplegia, Recessive
Hereditary sensory and autonomic neuropathy type 2
Intellectual Disability, Dominant
not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA204602

rs_374873057

9 SubmittersRCV000190656 RCV000311119 RCV000356396 RCV000401309 RCV000504400 RCV000639825 RCV001252530 RCV001545198 RCV001847846

NM_014946.4(SPAST):c.1168A>G (p.Met390Val)

SNV
Germline

Chr2:32127017

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204591

rs_797044850

5 SubmittersRCV000190649 RCV000206286 RCV000478313

NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)

SNV
Germline

Chr16:74726273

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia
Hereditary spastic paraplegia 35
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204774

rs_765086319

5 SubmittersRCV000190745 RCV001847847 RCV002470808 RCV004998400

NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)

SNV
Germline

Chr2:240797715

Pathogenic/Likely pathogenic

Spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA250361

rs_797045050

6 SubmittersRCV000191098 RCV000639795 RCV000235418 RCV004786519 RCV004767129

NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)

SNV
Germline

Chr14:67782971

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250411

rs_370828455

4 SubmittersRCV000191149 RCV000633029 RCV001847849 RCV004791315

NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)

SNV
Germline

Chr17:5022180

Conflicting classifications of pathogenicity

Spastic ataxia 2
Condition: not provided
Hereditary spastic paraplegia
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA250364

rs_148934699

9 SubmittersRCV000191099 RCV000415815 RCV001847848 RCV003917729

NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)

SNV
Germline

Chr17:5023573

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA250366

rs_202232792

7 SubmittersRCV000191100 RCV000516061 RCV000859538 RCV003917730

NM_000533.5(PLP1):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:103776996

Pathogenic

Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA276159

rs_797045064

2 SubmittersRCV000191119 RCV001857679

NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)

SNV
Germline

Chr7:100106278

Pathogenic

Hereditary spastic paraplegia 50
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346965

rs_146262009

7 SubmittersRCV000191922 RCV001849336 RCV003227707

NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)

SNV
Germline

Chr1:109628244

Conflicting classifications of pathogenicity

not specified
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205620

rs_114727970

4 SubmittersRCV000192657 RCV000548443 RCV001725137

NM_001253852.3(AP4B1):c.114-10C>T

SNV
Germline

Chr1:113902872

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA209729

rs_200301524

2 SubmittersRCV000195118 RCV002517046

NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=)

SNV
Germline

Chr2:240718061

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209750

rs_745898229

3 SubmittersRCV000195127 RCV001406543 RCV002336512

NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)

SNV
Germline

Chr2:240719177

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207711

rs_143815273

8 SubmittersRCV000193912 RCV000393106 RCV000871380 RCV001721255 RCV001847865 RCV002317696

NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)

SNV
Germline

Chr2:240719868

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209849

rs_200141437

10 SubmittersRCV000195190 RCV000513801 RCV000538003 RCV000764392 RCV001262253 RCV002517091

NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)

SNV
Germline

Chr2:240721001

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205958

rs_201825284

6 SubmittersRCV000192849 RCV000766570 RCV001088066 RCV001847864 RCV004020320

NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)

SNV
Germline

Chr2:240722483

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA208952

rs_771217469

5 SubmittersRCV000194644 RCV001434490 RCV001847863 RCV002327027 RCV004737300

NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)

SNV
Germline

Chr2:240722517

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Condition: not provided
Intellectual disability, autosomal dominant 9
History of neurodevelopmental disorder
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA207477

rs_141441058

12 SubmittersRCV000193768 RCV000399209 RCV000430886 RCV000625875 RCV000717282 RCV001084017 RCV001847862 RCV004530127

NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)

SNV
Germline

Chr2:240722536

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206106

rs_572923181

5 SubmittersRCV000192942 RCV001231462 RCV004786520 RCV003133168

NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met)

SNV
Germline

Chr2:240740061

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209076

rs_797045652

3 SubmittersRCV000194715 RCV001062486 RCV002317694

NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)

SNV
Germline

Chr2:240744058

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA206971

rs_201981364

4 SubmittersRCV000193462 RCV000639842 RCV001087528

NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)

SNV
Germline

Chr2:240745767

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA205590

rs_370286749

15 SubmittersRCV000192638 RCV000727207 RCV001081600 RCV001136883 RCV001847861 RCV002314827 RCV004530126

NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)

SNV
Germline

Chr2:240745866

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Condition: not provided
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA206964

rs_368682964

10 SubmittersRCV000193457 RCV000280816 RCV000560060 RCV001082394 RCV002433868 RCV001847860

NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)

SNV
Germline

Chr2:240750448

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208542

rs_186881889

11 SubmittersRCV000194398 RCV001139124 RCV000639833 RCV001699152 RCV001847859 RCV002314826

NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)

SNV
Germline

Chr2:240750508

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206457

rs_140783695

9 SubmittersRCV000193158 RCV000386218 RCV000532199 RCV001532442 RCV001847858 RCV002317693

NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)

SNV
Germline

Chr2:240758410

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA209428

rs_370648599

3 SubmittersRCV000194936 RCV000940273 RCV001847857

NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)

SNV
Germline

Chr2:240758467

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208640

rs_199996308

9 SubmittersRCV000194459 RCV000339569 RCV000539758 RCV001847856 RCV002317692 RCV003430743

NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)

SNV
Germline

Chr2:240761362

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Intellectual disability
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA206597

rs_774604596

7 SubmittersRCV000193245 RCV000624865 RCV001252529 RCV001838988 RCV001852557 RCV003133167 RCV004530125

NM_001244008.2(KIF1A):c.883-3C>T

SNV
Germline

Chr2:240775929

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208265

rs_111507743

6 SubmittersRCV000194229 RCV000267842 RCV000542527 RCV000997713

NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)

SNV
Germline

Chr2:240783059

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206824

rs_187442951

6 SubmittersRCV000193375 RCV000328663 RCV000554087 RCV001556672 RCV001847867 RCV002314828

NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)

SNV
Germline

Chr2:240783087

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA209610

rs_797045655

9 SubmittersRCV000195049 RCV000236782 RCV000818660 RCV001391603 RCV001847866

NM_014946.4(SPAST):c.1735A>C (p.Asn579His)

SNV
Germline

Chr2:32154380

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 4
Condition: not provided
Spastic paraplegia
Spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA207191

rs_144594804

10 SubmittersRCV000193599 RCV000509114 RCV000658865 RCV001391562 RCV001640291 RCV001847874

NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)

SNV
Germline

Chr7:100102942

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 50
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA209697

rs_138437966

7 SubmittersRCV000195099 RCV000766902 RCV001087871 RCV003927759

NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)

SNV
Germline

Chr7:100105984

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA206534

rs_754498075

3 SubmittersRCV000193207 RCV001040211 RCV001849338

NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)

SNV
Germline

Chr7:100106862

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50
Condition: not provided
Hereditary spastic paraplegia
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA206016

rs_147738731

6 SubmittersRCV000192888 RCV000860999 RCV001507706 RCV001847852 RCV003895240

NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)

SNV
Germline

Chr7:4788844

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA205539

rs_372517211

3 SubmittersRCV000192608 RCV001087595

NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)

SNV
Germline

Chr13:23332894

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA207002

rs_36061856

11 SubmittersRCV000193480 RCV000278445 RCV000230933 RCV001079338 RCV001847870

NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)

SNV
Germline

Chr13:23335483

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA277355

rs_140551762

19 SubmittersRCV000194652 RCV000230214 RCV000513770 RCV001815246 RCV001847873

NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)

SNV
Germline

Chr13:23339410

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Abnormal brain morphology
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA207202

rs_147099630

18 SubmittersRCV000193608 RCV000475223 RCV000454342 RCV000709972 RCV001358184 RCV001847872

NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)

SNV
Germline

Chr13:23340449

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207090

rs_144267558

13 SubmittersRCV000193535 RCV000338267 RCV000470007 RCV001083422 RCV001847871 RCV003907705 RCV004020340

NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)

SNV
Germline

Chr14:67782955

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 15
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA206139

rs_35018134

7 SubmittersRCV000192964 RCV000263238 RCV000713435 RCV001085598 RCV001847876

NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)

SNV
Germline

Chr2:86217050

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA322595

rs_189652973

7 SubmittersRCV000415754 RCV000986787 RCV003165456

NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser)

SNV
Germline

Chr2:86232673

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_768890728

2 SubmittersRCV001228818 RCV002345708

NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)

SNV
Germline

Chr6:5613185

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
See cases
FARS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA325392

rs_751459058

12 SubmittersRCV000200808 RCV000622524 RCV000525331 RCV000578164 RCV003156085 RCV004751360

NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)

SNV
Germline

Chr6:5771328

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14

Criteria Provided
Multiple Submitters
No Conflicts

CA321645

rs_775690041

4 SubmittersRCV000197201 RCV000578139 RCV001378476

NM_021830.5(TWNK):c.2045G>A (p.Arg682His)

SNV
Germline

Chr10:100993500

Conflicting classifications of pathogenicity

Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary spastic paraplegia
Condition: not provided
TWNK-related disorder

Criteria Provided
Conflicting Classifications

CA323951

rs_182559752

6 SubmittersRCV000374204 RCV000283282 RCV000377740 RCV000338208 RCV001847877 RCV000871398 RCV004530167

NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)

SNV
Germline

Chr16:89508421

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA321845

rs_535030441

8 SubmittersRCV000817246 RCV001722098 RCV001847886 RCV002515437

NM_003119.4(SPG7):c.199C>T (p.Leu67=)

SNV
Germline

Chr16:89510505

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA322268

rs_148315471

5 SubmittersRCV000197807 RCV000860664 RCV001815248 RCV001847883

NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)

SNV
Germline

Chr16:89510526

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA323300

rs_114854791

6 SubmittersRCV000198775 RCV000765319 RCV001847887 RCV003993885

NM_003119.4(SPG7):c.403G>A (p.Asp135Asn)

SNV
Germline

Chr16:89524032

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA322399

rs_767820132

2 SubmittersRCV000197933 RCV001853199

NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)

SNV
Germline

Chr16:89532579

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

CA324322

rs_201543030

6 SubmittersRCV000713479 RCV000804015 RCV003488456

NM_003119.4(SPG7):c.1653C>T (p.Arg551=)

SNV
Germline

Chr16:89548103

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336170

rs_56031686

8 SubmittersRCV000196125 RCV001088894 RCV001847884 RCV003221854

NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)

SNV
Germline

Chr16:89550505

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA322772

rs_372981030

5 SubmittersRCV000198266 RCV000697812 RCV001847888

NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)

SNV
Germline

Chr16:89550557

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA322015

rs_151249432

6 SubmittersRCV000197553 RCV001233181 RCV001847891 RCV004782305

NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)

SNV
Germline

Chr16:89553132

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA325352

rs_2099104

7 SubmittersRCV000487696 RCV000515879 RCV000640979 RCV004816333

NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)

SNV
Germline

Chr16:89554486

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
SPG7-related disorder

Criteria Provided
Conflicting Classifications

CA324687

rs_752257333

3 SubmittersRCV000200130 RCV002515440 RCV003417715

NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)

SNV
Germline

Chr16:89556933

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
SPG7-related disorder
Hereditary spastic paraplegia
Spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA323349

rs_752623413

18 SubmittersRCV000198819 RCV000500664 RCV003401074 RCV001847889 RCV001640295

NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)

SNV
Germline

Chr16:89556980

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA325312

rs_140769107

10 SubmittersRCV000227318 RCV000766856 RCV001847890

NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr2:32137112

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA337296

rs_757130394

2 SubmittersRCV000197545

NM_015915.5(ATL1):c.300T>G (p.Val100=)

SNV
Germline

Chr14:50590958

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA338991

rs_863224772

3 SubmittersRCV000199958 RCV002433889

NM_015346.4(ZFYVE26):c.7417-5G>C

SNV
Germline

Chr14:67748644

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA335934

rs_201771769

6 SubmittersRCV000195780 RCV000280192 RCV000614268 RCV001083657 RCV001847894

NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)

SNV
Germline

Chr14:67762745

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
not specified
Condition: not provided
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA338151

rs_139163400

8 SubmittersRCV000198741 RCV001116681 RCV000343187 RCV001705152 RCV001847897 RCV003937753

NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)

SNV
Germline

Chr14:67778189

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA338345

rs_200243306

7 SubmittersRCV000199016 RCV001116781 RCV001531198 RCV001847893

NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)

SNV
Germline

Chr14:67782828

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Condition: not provided
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA337036

rs_534497092

5 SubmittersRCV000197212 RCV000298542 RCV001847896 RCV003401078 RCV003917810

NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)

SNV
Germline

Chr15:44564566

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
not specified
Hereditary spastic paraplegia
Intellectual disability
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337736

rs_150571352

8 SubmittersRCV000198221 RCV001331387 RCV000609376 RCV001847903 RCV001252105 RCV002363018 RCV004696869

NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter)

SNV
Germline

Chr15:44564583

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA336254

rs_762984907

2 SubmittersRCV000196229 RCV004791320

NM_025137.4(SPG11):c.3146-6T>G

SNV
Germline

Chr15:44610991

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336234

rs_777849932

3 SubmittersRCV000196201 RCV003137783

NM_025137.4(SPG11):c.2887A>C (p.Arg963=)

SNV
Germline

Chr15:44615514

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339114

rs_150689014

7 SubmittersRCV000200120 RCV000516986 RCV001847899 RCV002433886 RCV003884398

NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)

SNV
Germline

Chr15:44663632

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA337596

rs_200573434

11 SubmittersRCV000713414 RCV001086819 RCV001260214 RCV001336692 RCV001847902 RCV002399751 RCV003917821

NM_016630.7(SPG21):c.846G>A (p.Ala282=)

SNV
Germline

Chr15:64963701

Conflicting classifications of pathogenicity

Mast syndrome
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338450

rs_146986015

6 SubmittersRCV000199178 RCV000518621 RCV001847898 RCV003389761

NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)

SNV
Germline

Chr16:89544731

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA336544

rs_748555510

3 SubmittersRCV000196592

NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)

SNV
Germline

Chr16:89553853

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339302

rs_752989523

4 SubmittersRCV000200425 RCV001562435

NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)

SNV
Germline

Chr2:197487161

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA279046

rs_863224878

3 SubmittersRCV000200544 RCV002225501 RCV002517300

NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)

SNV
Germline

Chr2:32144945

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided
not specified
Cerebral palsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA277520

rs_142053576

11 SubmittersRCV000199081 RCV000486146 RCV001193265 RCV001795327 RCV004020479

NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)

SNV
Germline

Chr2:32145005

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia
SPAST-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278930

rs_863224923

11 SubmittersRCV000195806 RCV001091364 RCV001847904 RCV003401083

NM_014363.6(SACS):c.11624G>A (p.Arg3875His)

SNV
Germline

Chr13:23332252

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351289

rs_863224916

4 SubmittersRCV001843500 RCV001848018 RCV002305471

NM_024306.5(FA2H):c.517C>T (p.Pro173Ser)

SNV
Germline

Chr16:74726321

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA279015

rs_863224870

1 SubmittersRCV000199368

NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)

SNV
Germline

Chr16:89550559

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA277518

rs_72547552

2 SubmittersRCV000198892

NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)

SNV
Germline

Chr10:95633040

Likely pathogenic

Hereditary spastic paraplegia 9A
P5CS deficiency

Criteria Provided
Single Submitter

CA347465

rs_864321669

2 SubmittersRCV000200956 RCV003389243

NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)

SNV
Germline

Chr10:95633012

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 9A
Condition: not provided
ALDH18A1 deficiency
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA347466

rs_864321670

7 SubmittersRCV000200959 RCV000761744 RCV001095737 RCV003765292

NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)

SNV
Germline

Chr10:95637381

Pathogenic

Hereditary spastic paraplegia 9A
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Single Submitter

CA279055

rs_863224945

2 SubmittersRCV000200954 RCV003765293

NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)

SNV
Germline

Chr10:95611372

Pathogenic

Hereditary spastic paraplegia 9A

No Assertion Criteria Provided

CA280923

rs_766264810

1 SubmittersRCV000200958

NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)

SNV
Germline

Chr10:95637328

Pathogenic

Cutis laxa, autosomal dominant 3
Condition: not provided
Hereditary spastic paraplegia 9A
Cutis laxa, autosomal dominant 3
ALDH18A1-related de Barsy syndrome
Autosomal recessive complex spastic paraplegia type 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA279130

rs_863225044

6 SubmittersRCV000201215 RCV000481980 RCV003883142

NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)

SNV
Germline

Chr10:95637327

Pathogenic

Cutis laxa, autosomal dominant 3
Hereditary spastic paraplegia 9A
ALDH18A1-related disorder
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279126

rs_863225045

5 SubmittersRCV000201213 RCV004798805 RCV004530202 RCV003765295 RCV003236787

NM_003119.4(SPG7):c.988-1G>A

SNV
Germline

Chr16:89531903

Pathogenic

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA339773

rs_748309520

7 SubmittersRCV000206709 RCV001847907 RCV003897433

NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)

SNV
Germline

Chr16:89550545

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA8244370

rs_72547551

12 SubmittersRCV000235251 RCV000413737 RCV001847906

NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)

SNV
Germline

Chr16:89553853

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10575796

rs_752989523

2 SubmittersRCV000236261 RCV001847908

NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)

SNV
Germline

Chr16:89556954

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10575797

rs_879253797

5 SubmittersRCV000236780 RCV001847905

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_002361.4(MAG):c.399C>G (p.Ser133Arg)

SNV
Germline

Chr19:35295965

Pathogenic

Hereditary spastic paraplegia 75

No Assertion Criteria Provided

CA211166

rs_2301600

1 SubmittersRCV000202409

NM_001244008.2(KIF1A):c.2908C>T (p.Arg970Cys)

SNV
Germline

Chr2:240750498

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA249179

rs_864309570

4 SubmittersRCV000202975 RCV001236114 RCV002433897 RCV003324729

NM_004722.4(AP4M1):c.930G>A (p.Arg310=)

SNV
Germline

Chr7:100105959

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50
Hereditary spastic paraplegia
Condition: not provided
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA249229

rs_141754568

6 SubmittersRCV000203025 RCV000559361 RCV001847910 RCV002292486 RCV003927869

NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)

SNV
Germline

Chr8:125073296

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248939

rs_150430170

4 SubmittersRCV000202751 RCV001439371 RCV002517353

NM_014846.4(WASHC5):c.639G>C (p.Gln213His)

SNV
Germline

Chr8:125078810

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA249149

rs_141234822

5 SubmittersRCV000202950 RCV000767086 RCV001163829 RCV001490442 RCV001847913

NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)

SNV
Germline

Chr2:32141917

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA348315

rs_864622162

8 SubmittersRCV000204046 RCV000585136 RCV001847923

NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)

SNV
Germline

Chr2:32144996

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA349419

rs_864622179

6 SubmittersRCV000205236 RCV000432874 RCV001847924

NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)

SNV
Germline

Chr8:64616207

Pathogenic

Spastic paraplegia
Inborn genetic diseases
Condition: not provided
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA350581

rs_200737038

7 SubmittersRCV000206556 RCV000210595 RCV000729706 RCV001312060 RCV001847930

NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)

SNV
Germline

Chr8:64624458

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A

Criteria Provided
Conflicting Classifications

CA350038

rs_377119798

2 SubmittersRCV000205949 RCV000379462

NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)

SNV
Germline

Chr8:64798529

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 5A
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

CA349540

rs_537303950

6 SubmittersRCV000205382 RCV000512932 RCV001163749 RCV003955222

NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)

SNV
Germline

Chr11:62694610

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA349870

rs_369806785

6 SubmittersRCV000329673 RCV000276983 RCV000427504 RCV000727441 RCV001087921 RCV002372202 RCV001847934

NM_015915.5(ATL1):c.757G>A (p.Val253Ile)

SNV
Germline

Chr14:50614406

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA350143

rs_864622520

9 SubmittersRCV000206078 RCV000235294 RCV001847933

NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)

SNV
Germline

Chr14:50628104

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA348222

rs_864622083

2 SubmittersRCV000203941

NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)

SNV
Germline

Chr14:50628394

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA348023

rs_864622269

11 SubmittersRCV000203724 RCV000390284 RCV000624103 RCV001847927

NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)

SNV
Germline

Chr15:44563256

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA349992

rs_61732733

9 SubmittersRCV000205885 RCV000434779 RCV001847932 RCV002292488 RCV002372199

NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)

SNV
Germline

Chr15:44633542

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA350373

rs_79708848

11 SubmittersRCV000206327 RCV000444113 RCV001260213 RCV001847925

NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)

SNV
Germline

Chr16:89526366

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA349347

rs_114255772

3 SubmittersRCV000205153

NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)

SNV
Germline

Chr16:89553103

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
SPG7-related disorder

Criteria Provided
Conflicting Classifications

CA350356

rs_864622507

7 SubmittersRCV000206309 RCV000993072 RCV003897449

NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)

SNV
Germline

Chr16:89553805

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349575

rs_769602042

8 SubmittersRCV000205405 RCV000585273

NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)

SNV
Germline

Chr16:89553941

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349321

rs_864622094

6 SubmittersRCV000205117 RCV000413637

NM_000533.5(PLP1):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:103776997

Pathogenic

Hereditary spastic paraplegia 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA348083

rs_864622194

2 SubmittersRCV000203805 RCV002517370

NM_001371279.1(REEP1):c.595+1G>A

SNV
Germline

Chr2:86232624

Pathogenic

Hereditary spastic paraplegia 31

No Assertion Criteria Provided

CA354093

rs_869312880

1 SubmittersRCV000210477

NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)

SNV
Germline

Chr14:67752520

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA358160

rs_869312914

3 SubmittersRCV000210660 RCV000670105 RCV003765356

NM_004820.5(CYP7B1):c.259+2T>C

SNV
Germline

Chr8:64624401

Pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA4764264

rs_751713917

3 SubmittersRCV000490267 RCV002517441

NM_014946.4(SPAST):c.1245+1G>A

SNV
Germline/somatic

Chr2:32128480

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Inborn genetic diseases
SPAST-related spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10576248

rs_875989878

18 SubmittersRCV000211536 RCV000993061 RCV001267594 RCV001796968 RCV001847944

NM_006459.4(ERLIN1):c.149G>T (p.Gly50Val)

SNV
Germline

Chr10:100183802

Pathogenic

Hereditary spastic paraplegia 62

No Assertion Criteria Provided

CA10576346

rs_876661322

1 SubmittersRCV000211706

NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)

SNV
Germline

Chr2:240744032

Conflicting classifications of pathogenicity

Condition: not provided
History of neurodevelopmental disorder
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207781

rs_35698242

15 SubmittersRCV000213625 RCV000718021 RCV004786611 RCV000540329 RCV001847946 RCV002247667 RCV000764395

NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val)

SNV
Germline

Chr2:240763259

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208262

rs_765812659

4 SubmittersRCV000219370 RCV000352933 RCV000509269 RCV000639800

NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser)

SNV
Germline

Chr2:240783093

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA10577247

rs_876661283

2 SubmittersRCV000213797 RCV001854764

NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr)

SNV
Germline

Chr2:240783058

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208637

rs_756136593

4 SubmittersRCV000213561 RCV000699622 RCV001329212 RCV002444868

NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)

SNV
Germline

Chr9:92729208

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Inborn genetic diseases
BICD2-related disorder

Criteria Provided
Conflicting Classifications

CA5126852

rs_61754130

10 SubmittersRCV000224292 RCV000431161 RCV000516078 RCV000789077 RCV001081222 RCV002429084 RCV003937870

NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)

SNV
Germline

Chr15:44566301

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia 11
Inborn genetic diseases
SPG11-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7534007

rs_141818132

11 SubmittersRCV000224214 RCV001260212 RCV001085256 RCV002365166 RCV003919902 RCV001847948

NM_001368809.2(AMPD2):c.1081-8C>A

SNV
Germline

Chr1:109628075

Conflicting classifications of pathogenicity

Condition: not provided
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63

Criteria Provided
Conflicting Classifications

CA993026

rs_145268448

2 SubmittersRCV000224507 RCV001399673

NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)

SNV
Germline

Chr13:23339758

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911430

rs_61548169

6 SubmittersRCV000224523 RCV000290021 RCV001084237 RCV001847949 RCV001112284

NM_000533.5(PLP1):c.388C>T (p.His130Tyr)

SNV
Germline

ChrX:103786661

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 2

Criteria Provided
Conflicting Classifications

CA10581371

rs_878853076

2 SubmittersRCV000223963 RCV001854777

NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)

SNV
Germline

Chr13:23331227

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910119

rs_35799469

9 SubmittersRCV000224626 RCV000251185 RCV000322346 RCV001079358 RCV001847950

NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)

SNV
Germline

Chr1:228158705

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA1430934

rs_760502262

4 SubmittersRCV000224481 RCV001086089 RCV001847952

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

4 SubmittersRCV000224979 RCV000498920 RCV000706352

NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr15:44633619

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7535486

rs_765061840

5 SubmittersRCV000757917 RCV000224985 RCV001565198

NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)

SNV
Germline

Chr1:228158951

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
GJC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1430959

rs_140942230

9 SubmittersRCV000436644 RCV001084409 RCV001848000 RCV003939882 RCV004800355

NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)

SNV
Germline

Chr2:201741784

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058242

rs_3219160

8 SubmittersRCV000294407 RCV000388670 RCV000756988 RCV001082502 RCV001848004

NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)

SNV
Germline

Chr2:201757758

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058513

rs_190369242

8 SubmittersRCV000512695 RCV000516346 RCV000764355 RCV001082210 RCV001137184 RCV001139424 RCV001848003

NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)

SNV
Germline

Chr2:32136933

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10581968

rs_878854990

14 SubmittersRCV000234461 RCV000713464 RCV001847989

NM_014946.4(SPAST):c.1496G>A (p.Arg499His)

SNV
Germline

Chr2:32141906

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Inborn genetic diseases
Condition: not provided
Abnormal central motor function
Hereditary spastic paraplegia
SPAST-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10581969

rs_878854991

27 SubmittersRCV000230990 RCV000623007 RCV000713467 RCV001814125 RCV001847990 RCV003422150

NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)

SNV
Germline

Chr2:32144995

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10581970

rs_878854992

2 SubmittersRCV000228683 RCV002472978

NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)

SNV
Germline

Chr7:4783430

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
AP5Z1-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4137222

rs_191971593

8 SubmittersRCV000233083 RCV001079083 RCV003929988 RCV001847987

NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)

SNV
Germline

Chr7:4784966

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia
Condition: not provided
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4137421

rs_572271008

6 SubmittersRCV000226846 RCV001288787 RCV001847988 RCV003430791 RCV003967657

NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg)

SNV
Germline

Chr7:4786384

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137705

rs_376329631

4 SubmittersRCV000228923 RCV001847981 RCV002518353 RCV004791359

NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr)

SNV
Germline

Chr7:4788284

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137882

rs_535174478

3 SubmittersRCV000232141 RCV001847984 RCV003258712

NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)

SNV
Germline

Chr7:4791361

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4138468

rs_368571200

6 SubmittersRCV000226378 RCV001088873 RCV001847985 RCV003907888

NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)

SNV
Germline

Chr9:35739658

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 46

Criteria Provided
Conflicting Classifications

CA5050370

rs_142883889

5 SubmittersRCV000229631 RCV001311779 RCV001848008 RCV001331163

NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)

SNV
Germline

Chr9:35740296

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050485

rs_142607078

8 SubmittersRCV000231814 RCV001848007 RCV001084099

NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)

SNV
Germline

Chr12:57569671

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6652748

rs_140929639

10 SubmittersRCV000229098 RCV000362839 RCV001847957 RCV002516323 RCV001697585 RCV004547607

NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)

SNV
Germline

Chr12:57581917

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653261

rs_113247976

11 SubmittersRCV000424199 RCV000625002 RCV000713410 RCV001081669 RCV001260204 RCV001847959

NM_014363.6(SACS):c.12597A>G (p.Pro4199=)

SNV
Germline

Chr13:23331279

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910129

rs_112630127

7 SubmittersRCV000228765 RCV000379249 RCV000516975 RCV001560895 RCV001847972

NM_014363.6(SACS):c.11688G>A (p.Arg3896=)

SNV
Germline

Chr13:23332188

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910240

rs_116791509

7 SubmittersRCV000233808 RCV000293354 RCV000518611 RCV001563142 RCV001847971

NM_014363.6(SACS):c.10821C>A (p.Ile3607=)

SNV
Germline

Chr13:23333055

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910385

rs_113595574

7 SubmittersRCV000226968 RCV000516532 RCV001113446 RCV001689760 RCV001847970

NM_014363.6(SACS):c.10611A>G (p.Ala3537=)

SNV
Germline

Chr13:23333265

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910424

rs_137856939

9 SubmittersRCV000392205 RCV000516579 RCV000710203 RCV001079473 RCV001847969

NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)

SNV
Germline

Chr13:23335537

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910780

rs_111540787

12 SubmittersRCV000341299 RCV000676358 RCV001083821 RCV001847977 RCV002222460 RCV003929987

NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)

SNV
Germline

Chr13:23337095

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911032

rs_146722795

12 SubmittersRCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986

NM_014363.6(SACS):c.3129A>G (p.Ser1043=)

SNV
Germline

Chr13:23340747

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Spastic paraplegia
SACS-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911564

rs_148878361

13 SubmittersRCV000334685 RCV000372721 RCV000710205 RCV001082217 RCV003929985 RCV001847975

NM_014363.6(SACS):c.2988A>G (p.Leu996=)

SNV
Germline

Chr13:23340888

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911582

rs_111846884

9 SubmittersRCV000386665 RCV000761852 RCV001086002 RCV001109613 RCV001847974

NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)

SNV
Germline

Chr13:23354532

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911796

rs_17325713

12 SubmittersRCV000234475 RCV000250154 RCV000624974 RCV000676368 RCV001847973

NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys)

SNV
Germline

Chr14:102434288

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7357740

rs_751957510

5 SubmittersRCV000225996 RCV001847978 RCV003401181 RCV002518351

NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)

SNV
Germline

Chr14:67748523

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA7238918

rs_147494935

6 SubmittersRCV000228666 RCV000379338 RCV001722259 RCV001847998 RCV004999159

NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)

SNV
Germline

Chr15:44563197

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
not specified
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7533839

rs_76116949

14 SubmittersRCV000231950 RCV000514388 RCV000602319 RCV001260218 RCV001848014

NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)

SNV
Germline

Chr15:44567546

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534056

rs_144165094

6 SubmittersRCV000232056 RCV001082129 RCV002374379 RCV003939889

NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)

SNV
Germline

Chr15:44596919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
not specified
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534777

rs_139887370

6 SubmittersRCV000227706 RCV003221880 RCV001658071 RCV002356309 RCV003977687

NM_025137.4(SPG11):c.1602+10T>G

SNV
Germline

Chr15:44648856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7535513

rs_201535432

3 SubmittersRCV000230118 RCV002261019 RCV002467687 RCV002467686

NM_025137.4(SPG11):c.1008-4C>T

SNV
Germline

Chr15:44651943

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535634

rs_369112409

2 SubmittersRCV000229637

NM_025137.4(SPG11):c.60G>C (p.Ala20=)

SNV
Germline

Chr15:44663588

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535962

rs_544136842

3 SubmittersRCV000228154 RCV002356310

NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)

SNV
Germline

Chr15:50968263

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 51

Criteria Provided
Conflicting Classifications

CA7559184

rs_142215198

6 SubmittersRCV000232082 RCV002293430 RCV003987469

NM_024306.5(FA2H):c.691T>C (p.Tyr231His)

SNV
Germline

Chr16:74719083

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA10583427

rs_878855081

4 SubmittersRCV000229293 RCV000522066 RCV001848012 RCV003230464

NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)

SNV
Germline

Chr16:74719125

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 35
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8170441

rs_775750642

5 SubmittersRCV000226521 RCV001391536 RCV001731541 RCV001848011 RCV003480565

NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)

SNV
Germline

Chr16:74740048

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 35
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170581

rs_147632811

7 SubmittersRCV000419332 RCV000514460 RCV001084384 RCV001115913 RCV001848010

NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)

SNV
Germline

Chr19:7535950

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
not specified
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9139347

rs_200310048

6 SubmittersRCV000226456 RCV001727651 RCV001699245 RCV004532942

NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)

SNV
Germline

Chr19:7542855

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139820

rs_145191932

11 SubmittersRCV000280617 RCV000515015 RCV001847963 RCV001084647

NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=)

SNV
Germline

Chr19:7557262

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140438

rs_375987938

3 SubmittersRCV001132626 RCV003884424

NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)

SNV
Germline

Chr19:7558902

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified

Criteria Provided
Conflicting Classifications

CA9140492

rs_367675784

3 SubmittersRCV000234403 RCV001658064

NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)

SNV
Germline

Chr19:7558947

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified
Hereditary spastic paraplegia
Condition: not provided
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140500

rs_138837774

9 SubmittersRCV000228258 RCV000605874 RCV001847966 RCV001531879 RCV004532941

NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr)

SNV
Germline

Chr2:240719053

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10584187

rs_879253903

3 SubmittersRCV000236433 RCV000691779 RCV002338768

NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)

SNV
Germline

Chr2:240719089

Conflicting classifications of pathogenicity

Condition: not provided
History of neurodevelopmental disorder
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207170

rs_199574770

5 SubmittersRCV000236636 RCV000719157 RCV000764388 RCV001068459

NM_001244008.2(KIF1A):c.5102G>A (p.Arg1701Gln)

SNV
Germline

Chr2:240719118

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207175

rs_780828140

2 SubmittersRCV000236246 RCV001302199

NM_001244008.2(KIF1A):c.4708C>T (p.His1570Tyr)

SNV
Germline

Chr2:240721842

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207344

rs_528171871

2 SubmittersRCV000236455 RCV000639783

NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)

SNV
Germline

Chr2:240722610

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207398

rs_371831198

8 SubmittersRCV000236175 RCV000528862 RCV000853578 RCV001820787 RCV001848022 RCV002338772 RCV002487099

NM_001244008.2(KIF1A):c.4297G>A (p.Val1433Met)

SNV
Germline

Chr2:240723996

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10584188

rs_879253922

3 SubmittersRCV000235597 RCV001069303 RCV002327155

NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg)

SNV
Germline

Chr2:240737091

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA10584189

rs_879253904

4 SubmittersRCV000236053 RCV001334233 RCV002321899 RCV003765469

NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg)

SNV
Germline

Chr2:240741344

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA2207703

rs_377389267

3 SubmittersRCV000237088 RCV000706485

NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)

SNV
Germline

Chr2:240746156

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided
not specified
Intellectual disability
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
KIF1A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207905

rs_183359489

11 SubmittersRCV000338157 RCV000423040 RCV001820786 RCV001252531 RCV001084584 RCV001848020 RCV004532977 RCV004020917

NM_001244008.2(KIF1A):c.1836G>A (p.Glu612=)

SNV
Germline

Chr2:240763279

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA10584192

rs_879254322

2 SubmittersRCV000235415 RCV001394706

NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)

SNV
Germline

Chr2:240766936

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
History of neurodevelopmental disorder
Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208322

rs_375972461

6 SubmittersRCV000236475 RCV000529826 RCV000716737 RCV000767159 RCV001143565 RCV002518454

NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys)

SNV
Germline

Chr2:240773254

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA10584195

rs_879254004

3 SubmittersRCV000236924 RCV001334229 RCV003765473

NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)

SNV
Germline

Chr2:240783777

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10584198

rs_879253888

12 SubmittersRCV000236491 RCV000623278 RCV000763486 RCV000995795 RCV001857794 RCV004737388

NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)

SNV
Germline

Chr2:240797712

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10584200

rs_879253976

3 SubmittersRCV000236138 RCV001257592 RCV001848021

NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)

SNV
Germline

Chr2:86232691

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31
Inborn genetic diseases
REEP1-related disorder

Criteria Provided
Conflicting Classifications

CA1748693

rs_144874997

5 SubmittersRCV000236570 RCV001086893 RCV002347923 RCV003939905

NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)

SNV
Germline

Chr3:100748388

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2517248

rs_111356679

5 SubmittersRCV000235479 RCV000533138 RCV001081716 RCV002411066

NM_001253852.3(AP4B1):c.114-2A>C

SNV
Germline

Chr1:113902864

Pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Multiple Submitters
No Conflicts

CA10585950

rs_879255396

4 SubmittersRCV000239291 RCV001849350 RCV001854921

NM_025137.4(SPG11):c.2316+5G>A

SNV
Germline

Chr15:44622723

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA270074844

rs_879255274

1 SubmittersRCV002518741

NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr)

SNV
Germline

Chr6:5368994

Pathogenic

Hereditary spastic paraplegia 77

Criteria Provided
Single Submitter

CA10586223

rs_145555213

3 SubmittersRCV000239526

NM_020919.4(ALS2):c.1816-8C>T

SNV
Germline

Chr2:201746756

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058339

rs_185911369

10 SubmittersRCV000251509 RCV000710520 RCV001087893 RCV000400905 RCV000349374 RCV001848038

NM_015046.7(SETX):c.3345C>G (p.Ala1115=)

SNV
Germline

Chr9:132328253

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297423

rs_142020270

11 SubmittersRCV000252372 RCV001085624 RCV001311796 RCV001848032 RCV002321932

NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)

SNV
Germline

Chr9:132328623

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5297507

rs_61742937

14 SubmittersRCV000250229 RCV000387370 RCV000541126 RCV001168778 RCV001391479 RCV001706351 RCV001848031

NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)

SNV
Germline

Chr13:23336348

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910891

rs_111920492

13 SubmittersRCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946

NM_014363.6(SACS):c.1839G>A (p.Gln613=)

SNV
Germline

Chr13:23354773

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911843

rs_35840595

10 SubmittersRCV000247615 RCV000361137 RCV000676370 RCV001084224 RCV001848027

NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)

SNV
Germline

Chr2:32089527

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10588341

rs_886039695

3 SubmittersRCV000255494 RCV001038756

NM_000533.5(PLP1):c.191+1G>A

SNV
Germline

ChrX:103785769

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10588734

rs_886039537

2 SubmittersRCV000255963 RCV002288949

NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)

SNV
Germline

Chr2:240783776

Pathogenic/Likely pathogenic

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA10602852

rs_886041692

11 SubmittersRCV000326247 RCV000803981 RCV001078149 RCV001808727

NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly)

SNV
Germline

Chr2:32136886

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA10602853

rs_886041597

2 SubmittersRCV000360918 RCV003522953

NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)

SNV
Germline

Chr7:100106841

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 50
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10602949

rs_886041126

8 SubmittersRCV000361900 RCV001233636 RCV001849355

NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)

SNV
Germline

Chr10:100993505

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions
Mitochondrial DNA depletion syndrome
Ataxia Neuropathy Spectrum Disorders
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5653396

rs_369223258

8 SubmittersRCV000278667 RCV000312773 RCV000352301 RCV000406261 RCV001336025 RCV001722382 RCV001848044 RCV004021053

NM_021830.5(TWNK):c.241C>G (p.Leu81Val)

SNV
Germline

Chr10:100988451

Conflicting classifications of pathogenicity

Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5653043

rs_145068570

7 SubmittersRCV000320273 RCV001107964 RCV001107963 RCV001107965 RCV001102728 RCV001848043

NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)

SNV
Germline

Chr13:23353788

Pathogenic/Likely pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Abnormal brain morphology
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911751

rs_752059006

14 SubmittersRCV000393719 RCV000984212 RCV000454220 RCV001859535 RCV001848046

NM_015915.5(ATL1):c.478T>C (p.Ser160Pro)

SNV
Germline

Chr14:50591595

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA10603244

rs_886041897

2 SubmittersRCV000316265 RCV000705284

NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)

SNV
Germline

Chr16:89526389

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
Inborn genetic diseases
Optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA8243735

rs_764791523

7 SubmittersRCV000276524 RCV001391423 RCV002519056 RCV004786648

NM_021830.5(TWNK):c.384C>T (p.Ser128=)

SNV
Germline

Chr10:100988594

Conflicting classifications of pathogenicity

Infantile onset spinocerebellar ataxia
Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5653057

rs_148234280

6 SubmittersRCV000294722 RCV000336672 RCV000347919 RCV000351895 RCV000386725 RCV001848047

NM_025137.4(SPG11):c.4744-6T>C

SNV
Germline

Chr15:44589420

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534588

rs_147550048

11 SubmittersRCV000513183 RCV001086542 RCV001848049 RCV002338823

NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)

SNV
Germline

Chr13:23355239

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911923

rs_61729954

16 SubmittersRCV000516147 RCV000603816 RCV000676372 RCV001082461 RCV001844110 RCV003930065

NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)

SNV
Germline

Chr2:240719052

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
not specified
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207161

rs_199804623

14 SubmittersRCV000282862 RCV000547693 RCV000725080 RCV004021106 RCV001848050 RCV004701368 RCV003989518

NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)

SNV
Germline

Chr13:23340124

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911480

rs_76872266

8 SubmittersRCV000269188 RCV000282202 RCV000861200 RCV001086494 RCV001848052 RCV003947857

NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)

SNV
Germline

Chr14:67807405

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240681

rs_199794711

3 SubmittersRCV000348382 RCV001086049 RCV001848053

NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)

SNV
Germline

Chr2:240745782

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207842

rs_200149062

11 SubmittersRCV000346892 RCV000725374 RCV001081283 RCV001136884 RCV001848054 RCV002314010

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_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

6 SubmittersRCV000259263 RCV000811912 RCV002467716 RCV002379128 RCV002467715 RCV004586659

NM_014363.6(SACS):c.8022T>C (p.Phe2674=)

SNV
Germline

Chr13:23335854

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6910829

rs_34928783

8 SubmittersRCV000512830 RCV001085541 RCV001111636 RCV001848058 RCV004999227

NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)

SNV
Germline

Chr16:89526347

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Conflicting Classifications

CA8243731

rs_774774648

7 SubmittersRCV000276883 RCV000725648 RCV001848059 RCV003409411

NM_031448.6(C19orf12):c.313G>A (p.Val105Met)

SNV
Germline

Chr19:29702825

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA9351885

rs_146492790

9 SubmittersRCV000304840 RCV000468820 RCV001126321 RCV001848060 RCV003323494

NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)

SNV
Germline

Chr12:57570019

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 10
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6652775

rs_143326964

10 SubmittersRCV000316036 RCV000725991 RCV001114823 RCV001087471 RCV001848061 RCV002521970 RCV004549595

NM_014363.6(SACS):c.11703T>C (p.Asn3901=)

SNV
Germline

Chr13:23332173

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910237

rs_146154135

5 SubmittersRCV000313782 RCV001089271 RCV001848062 RCV001782776

NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)

SNV
Germline

Chr13:23337868

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911152

rs_537408260

6 SubmittersRCV000390861 RCV000401468 RCV001087895 RCV001848064

NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)

SNV
Germline

Chr14:67783430

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239917

rs_140756827

11 SubmittersRCV000316714 RCV000713434 RCV001082500 RCV001119777 RCV001848065

NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)

SNV
Germline

Chr8:64616011

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

CA4764191

rs_145152682

7 SubmittersRCV000262419 RCV001232156 RCV001332520 RCV004725147 RCV004742366

NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)

SNV
Germline

Chr14:67775960

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239587

rs_143981992

6 SubmittersRCV000343998 RCV000408268 RCV000633073 RCV001571869 RCV001848067

NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)

SNV
Germline

Chr14:67782888

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Hereditary spastic paraplegia 15
Inborn genetic diseases
ZFYVE26-related disorder
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239812

rs_148552744

7 SubmittersRCV000341865 RCV000860654 RCV001118235 RCV002518084 RCV003930170 RCV004546476 RCV001848068

NM_144599.5(NIPA1):c.312G>A (p.Pro104=)

SNV
Germline

Chr15:22812248

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 6
NIPA1-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7426136

rs_139372534

8 SubmittersRCV000616724 RCV000726331 RCV001087083 RCV003940067 RCV001848069

NM_000533.5(PLP1):c.453G>A (p.Lys151=)

SNV
Germline

ChrX:103786726

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 2
Condition: not provided
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10606773

rs_886044450

3 SubmittersRCV000691268 RCV000380260 RCV004595503

NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)

SNV
Germline

Chr2:201727708

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058054

rs_375742430

3 SubmittersRCV000316456 RCV000361538 RCV000703570 RCV001848676

NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)

SNV
Germline

Chr2:201733377

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Peripheral axonal neuropathy
Infantile-onset ascending hereditary spastic paralysis
Tip-toe gait
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058171

rs_202219507

8 SubmittersRCV000328276 RCV000382737 RCV000414980 RCV000813075 RCV001358657 RCV001289224 RCV001580056 RCV001848678

NM_002156.5(HSPD1):c.428-15A>G

SNV
Germline

Chr2:197495391

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2043609

rs_769110777

2 SubmittersRCV000383647 RCV002521353

NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)

SNV
Germline

Chr2:201726526

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Hereditary spastic paraplegia
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2057955

rs_200706696

6 SubmittersRCV000261194 RCV000355910 RCV000515815 RCV000863616 RCV001260560 RCV001590976 RCV004999329

NM_001244008.2(KIF1A):c.*23C>A

SNV
Germline

Chr2:240717341

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207077

rs_531276835

2 SubmittersRCV000377326 RCV001799653

NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=)

SNV
Germline

Chr2:240719195

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207193

rs_148176695

5 SubmittersRCV000300261 RCV000534365 RCV001848681 RCV002338932 RCV003430853

NM_001244008.2(KIF1A):c.4744-5C>T

SNV
Germline

Chr2:240721043

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207308

rs_117815481

7 SubmittersRCV000398914 RCV000555537 RCV000600006 RCV001718709 RCV004530366

NM_001244008.2(KIF1A):c.4529C>T (p.Pro1510Leu)

SNV
Germline

Chr2:240722592

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10612901

rs_368005947

5 SubmittersRCV000359221 RCV000536756 RCV002244807 RCV002317846

NM_001244008.2(KIF1A):c.4110C>T (p.Ser1370=)

SNV
Germline

Chr2:240726838

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA2207501

rs_374134509

4 SubmittersRCV000399773 RCV002292531 RCV002356465 RCV000875296

NM_001244008.2(KIF1A):c.3901+9G>A

SNV
Germline

Chr2:240740049

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207604

rs_141647310

2 SubmittersRCV000356185 RCV001422875

NM_001244008.2(KIF1A):c.3672G>A (p.Arg1224=)

SNV
Germline

Chr2:240741346

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207704

rs_371024769

6 SubmittersRCV000402353 RCV002317847 RCV000559411 RCV001590979 RCV004737451

NM_001244008.2(KIF1A):c.183+7C>T

SNV
Germline

Chr2:240789229

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2208888

rs_74469870

7 SubmittersRCV000379717 RCV000425007 RCV001079242 RCV000639852 RCV001848690

NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)

SNV
Germline

Chr2:170852781

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Condition: not provided
GAD1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1962912

rs_143058194

7 SubmittersRCV000515943 RCV001836790 RCV003437057 RCV003957711 RCV004021779

NM_001244008.2(KIF1A):c.4851C>T (p.Tyr1617=)

SNV
Germline

Chr2:240720931

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207283

rs_202049905

6 SubmittersRCV000639812 RCV001848682 RCV001531525 RCV000321015 RCV002317845

NM_001244008.2(KIF1A):c.4123-12C>T

SNV
Germline

Chr2:240725416

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207480

rs_373658287

3 SubmittersRCV000347086 RCV001567444 RCV002057682

NM_001244008.2(KIF1A):c.2582+4G>A

SNV
Germline

Chr2:240758356

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208069

rs_572013653

3 SubmittersRCV000375945 RCV000874293 RCV001718710

NM_001244008.2(KIF1A):c.1342-4C>A

SNV
Germline

Chr2:240769710

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208425

rs_745742289

2 SubmittersRCV000291468 RCV002057684

NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=)

SNV
Germline

Chr2:240771091

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208473

rs_201242759

6 SubmittersRCV000402204 RCV001848686 RCV000872099 RCV001718711

NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)

SNV
Germline

Chr2:240788210

Conflicting classifications of pathogenicity

not specified
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208850

rs_141052770

11 SubmittersRCV000500342 RCV001085045 RCV001848688 RCV000710153 RCV000364235 RCV002311419

NM_020919.4(ALS2):c.1677A>G (p.Lys559=)

SNV
Germline

Chr2:201753206

Conflicting classifications of pathogenicity

ALS2-related disorder
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic Lateral Sclerosis, Recessive
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058388

rs_367640165

7 SubmittersRCV000407711 RCV000546027 RCV000306041 RCV001580129 RCV001848679

NM_002156.5(HSPD1):c.869+12T>C

SNV
Germline

Chr2:197493312

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2043493

rs_781462822

2 SubmittersRCV000358017 RCV003588617

NM_014946.4(SPAST):c.*1376A>G

SNV
Germline

Chr2:32155872

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613715

rs_575900032

2 SubmittersRCV000299753 RCV003422314

NM_001371279.1(REEP1):c.*94T>C

SNV
Germline

Chr2:86216945

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10614127

rs_141976852

3 SubmittersRCV000269579 RCV000713451 RCV001848694

NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)

SNV
Germline

Chr2:240721004

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207300

rs_200902828

7 SubmittersRCV000292157 RCV000503252 RCV000827544 RCV001085849 RCV002519958

NM_001244008.2(KIF1A):c.4308G>A (p.Ala1436=)

SNV
Germline

Chr2:240723985

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207429

rs_370868080

5 SubmittersRCV000375615 RCV000546441 RCV002356464 RCV001697748

NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr)

SNV
Germline

Chr2:240745865

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207859

rs_201793635

7 SubmittersRCV000295121 RCV000533973 RCV001590980 RCV001848685 RCV002436198 RCV004530367

NM_001244008.2(KIF1A):c.2116+12C>T

SNV
Germline

Chr2:240762707

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208192

rs_192836330

3 SubmittersRCV000277058 RCV000429217 RCV002057683

NM_001244008.2(KIF1A):c.882+8G>A

SNV
Germline

Chr2:240782582

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2208612

rs_376552408

6 SubmittersRCV000320440 RCV000439829 RCV000530116 RCV001391575 RCV001848687

NM_001244008.2(KIF1A):c.714G>A (p.Thr238=)

SNV
Germline

Chr2:240784995

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208697

rs_201970806

4 SubmittersRCV000293116 RCV000500447 RCV000540696 RCV001545838

NM_001244008.2(KIF1A):c.430-14G>A

SNV
Germline

Chr2:240786527

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208765

rs_201456681

3 SubmittersRCV000350424 RCV000442031 RCV002057685

NM_001244008.2(KIF1A):c.-55C>T

SNV
Germline

Chr2:240797807

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

CA10614770

rs_886055838

2 SubmittersRCV000320652 RCV000602731

NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)

SNV
Germline

Chr2:240719156

Conflicting classifications of pathogenicity

Spastic Paraplegia, Recessive
Intellectual Disability, Dominant
Hereditary sensory and autonomic neuropathy type 2
not specified
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207185

rs_527977882

7 SubmittersRCV000288511 RCV000352807 RCV000401116 RCV000502740 RCV001419740 RCV001582979 RCV001848680 RCV002338931

NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)

SNV
Germline

Chr2:240719906

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207253

rs_191428830

7 SubmittersRCV000360457 RCV000413251 RCV000712151 RCV001082704 RCV002338933 RCV004544626

NM_001244008.2(KIF1A):c.4465-10C>T

SNV
Germline

Chr2:240722666

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207401

rs_750461872

3 SubmittersRCV000269294 RCV000559760 RCV001705504

NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)

SNV
Germline

Chr2:240740071

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2207606

rs_144520412

12 SubmittersRCV000261495 RCV000502939 RCV000538208 RCV002314061 RCV001532441 RCV001848683

NM_001244008.2(KIF1A):c.3741C>T (p.Ala1247=)

SNV
Germline

Chr2:240741277

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207690

rs_375646700

3 SubmittersRCV000291954 RCV002450905 RCV001448765

NM_001244008.2(KIF1A):c.1769-8T>C

SNV
Germline

Chr2:240763354

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA10615001

rs_886055836

2 SubmittersRCV000322719 RCV001482761

NM_001244008.2(KIF1A):c.423C>T (p.Ser141=)

SNV
Germline

Chr2:240787257

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208790

rs_565992344

5 SubmittersRCV000548302 RCV001697759 RCV000335353 RCV002328859

NM_001244008.2(KIF1A):c.69C>T (p.Asp23=)

SNV
Germline

Chr2:240797684

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208917

rs_774350715

3 SubmittersRCV000400441 RCV001401558 RCV002374578

NM_014946.4(SPAST):c.*98A>G

SNV
Germline

Chr2:32154594

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10615121

rs_56272862

3 SubmittersRCV000369220 RCV001613093 RCV001848693

NM_014946.4(SPAST):c.*1476A>G

SNV
Germline

Chr2:32155972

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615123

rs_760307887

2 SubmittersRCV000305558 RCV003409533

NM_014946.4(SPAST):c.1744T>C (p.Leu582=)

SNV
Germline

Chr2:32154389

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA10615315

rs_886055962

2 SubmittersRCV000309433

NM_014946.4(SPAST):c.*2898C>T

SNV
Germline

Chr2:32157394

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615344

rs_886055983

2 SubmittersRCV000374971 RCV003422315

NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)

SNV
Germline

Chr3:155828335

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
not specified
Spastic paraplegia
Hereditary spastic paraplegia 42

Criteria Provided
Conflicting Classifications

CA2677216

rs_76440173

7 SubmittersRCV000438416 RCV001848696 RCV001288761 RCV001088062 RCV001197214

NM_014855.3(AP5Z1):c.417G>A (p.Ala139=)

SNV
Germline

Chr7:4783366

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137205

rs_201203264

2 SubmittersRCV000863728

NM_014855.3(AP5Z1):c.584A>G (p.His195Arg)

SNV
Germline

Chr7:4783761

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137269

rs_117659667

3 SubmittersRCV001087428 RCV000710608

NM_014855.3(AP5Z1):c.702C>T (p.Asp234=)

SNV
Germline

Chr7:4784283

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137326

rs_370728528

2 SubmittersRCV000276126

NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)

SNV
Germline

Chr8:64616019

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4764192

rs_371522442

4 SubmittersRCV000391244 RCV000593980 RCV001078606

NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)

SNV
Germline

Chr7:4784998

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA4137439

rs_200957609

10 SubmittersRCV001086510 RCV000710609 RCV002523597 RCV001848705 RCV004999351

NM_014855.3(AP5Z1):c.1132+7C>T

SNV
Germline

Chr7:4785691

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137615

rs_775865217

2 SubmittersRCV000864134

NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)

SNV
Germline

Chr7:4789918

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 48
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4138027

rs_374673921

4 SubmittersRCV000518556 RCV000538368 RCV003902400

NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)

SNV
Germline

Chr7:4790687

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4138234

rs_200617745

3 SubmittersRCV000312134 RCV001848710

NM_015046.7(SETX):c.5283A>G (p.Gln1761=)

SNV
Germline

Chr9:132311848

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297024

rs_139063885

6 SubmittersRCV000284631 RCV000376752 RCV001080441 RCV001643106 RCV001848725 RCV003422370

NM_014846.4(WASHC5):c.2052T>G (p.Thr684=)

SNV
Germline

Chr8:125055636

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA10626945

rs_886062652

2 SubmittersRCV000403572 RCV001487917

NM_014855.3(AP5Z1):c.366+5C>T

SNV
Germline

Chr7:4781759

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified

Criteria Provided
Conflicting Classifications

CA4137156

rs_143800095

3 SubmittersRCV000862924 RCV000517282

NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=)

SNV
Germline

Chr7:4785671

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA10629153

rs_886062353

2 SubmittersRCV000396245

NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)

SNV
Germline

Chr7:4787637

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
AP5Z1-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4137762

rs_113014863

5 SubmittersRCV000863004 RCV003922601 RCV001569108 RCV004999352

NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)

SNV
Germline

Chr7:4788256

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137867

rs_201687417

6 SubmittersRCV000710597 RCV001848707 RCV001086379

NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)

SNV
Germline

Chr7:4790698

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4138240

rs_61750324

9 SubmittersRCV000462575 RCV000433241 RCV000766950 RCV001848711 RCV002523598 RCV004816615

NM_014855.3(AP5Z1):c.*92G>A

SNV
Germline

Chr7:4791477

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629162

rs_112283999

3 SubmittersRCV000324706 RCV003311784

NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)

SNV
Germline

Chr7:4781647

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4137124

rs_775883752

4 SubmittersRCV000339045 RCV000710605 RCV003932487

NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)

SNV
Germline

Chr9:132264549

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296347

rs_34000644

10 SubmittersRCV000300843 RCV000337112 RCV000556745 RCV000507046 RCV001643105 RCV001848723 RCV002402088

NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)

SNV
Germline

Chr7:4784361

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4137357

rs_377507553

6 SubmittersRCV001662337 RCV001723961 RCV000576257 RCV001848704

NM_015046.7(SETX):c.2672T>C (p.Val891Ala)

SNV
Germline

Chr9:132328926

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal dominant
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297553

rs_148181729

8 SubmittersRCV000280363 RCV000372562 RCV000644850 RCV000789558 RCV001079301 RCV001848726 RCV004732864

NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)

SNV
Germline

Chr7:4787663

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137767

rs_60284677

4 SubmittersRCV000314723 RCV001848706 RCV004808698

NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=)

SNV
Germline

Chr7:4788172

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137837

rs_370135619

2 SubmittersRCV000355941

NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)

SNV
Germline

Chr7:4790589

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4138189

rs_200280538

5 SubmittersRCV000352753 RCV003480620 RCV001848709 RCV003970056

NM_014855.3(AP5Z1):c.*532G>A

SNV
Germline

Chr7:4791917

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629282

rs_527985598

2 SubmittersRCV000296324 RCV002512089

NM_014855.3(AP5Z1):c.*1670G>C

SNV
Germline

Chr7:4793055

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629308

rs_149234202

2 SubmittersRCV000314380 RCV003311785

NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)

SNV
Germline

Chr10:95621190

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
ALDH18A1-related disorder
Hereditary spastic paraplegia
Condition: not provided
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

CA5620356

rs_144816455

6 SubmittersRCV000263281 RCV004537703 RCV001848078 RCV001697656 RCV003765779

NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)

SNV
Germline

Chr8:125063585

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
7 conditions
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA10630150

rs_886062653

3 SubmittersRCV000308232 RCV000626920 RCV002524544

NM_001122955.4(BSCL2):c.88-663G>A

SNV
Germline

Chr11:62706280

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10631111

rs_117862461

3 SubmittersRCV000320380 RCV000377296 RCV001778897 RCV001848085

NM_004820.5(CYP7B1):c.*337T>G

SNV
Germline

Chr8:64596305

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10631424

rs_118000312

2 SubmittersRCV000408436 RCV001848718

NM_015046.7(SETX):c.60C>T (p.Arg20=)

SNV
Germline

Chr9:132349369

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5298141

rs_553346505

3 SubmittersRCV000272372 RCV000367105 RCV001848729 RCV002356501

NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)

SNV
Germline

Chr10:95637159

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome
ALDH18A1-related disorder
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5620588

rs_150472102

6 SubmittersRCV000287820 RCV003765784 RCV004537704 RCV001580480 RCV001848080

NM_004984.4(KIF5A):c.968+12G>C

SNV
Germline

Chr12:57569416

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6652714

rs_536186088

2 SubmittersRCV000271964 RCV001859851

NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)

SNV
Germline

Chr12:57581498

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6653225

rs_150672943

10 SubmittersRCV000625001 RCV000595607 RCV000860656 RCV001699440 RCV001848093 RCV004021552

NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)

SNV
Germline

Chr12:57581540

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Inborn genetic diseases
Condition: not provided
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6653231

rs_746095110

6 SubmittersRCV000361512 RCV001201559 RCV003298372 RCV003391113 RCV004737433

NM_004984.4(KIF5A):c.2994A>G (p.Gly998=)

SNV
Germline

Chr12:57582603

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653285

rs_750415265

2 SubmittersRCV000357841 RCV001409311

NM_014363.6(SACS):c.4302A>G (p.Leu1434=)

SNV
Germline

Chr13:23339574

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911407

rs_34559250

9 SubmittersRCV000357802 RCV000517025 RCV000864699 RCV001171670 RCV001848102 RCV003910159

NM_021830.5(TWNK):c.1101C>T (p.Ile367=)

SNV
Germline

Chr10:100989311

Conflicting classifications of pathogenicity

Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5653164

rs_200798080

3 SubmittersRCV000281131 RCV000316283 RCV000338588 RCV000373330 RCV002059511 RCV001848070

NM_021830.5(TWNK):c.*204G>A

SNV
Germline

Chr10:100993714

Conflicting classifications of pathogenicity

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10634372

rs_61871507

3 SubmittersRCV000308919 RCV000348968 RCV000363555 RCV000404345 RCV001582924 RCV001848071

NM_015915.5(ATL1):c.1623T>G (p.Ala541=)

SNV
Germline

Chr14:50632285

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180560

rs_777479928

3 SubmittersRCV000875223 RCV002402025

NM_015346.4(ZFYVE26):c.5484+13G>A

SNV
Germline

Chr14:67772034

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239496

rs_140117984

4 SubmittersRCV000292372 RCV000438168 RCV002056409 RCV003401318

NM_015346.4(ZFYVE26):c.4401C>T (p.Pro1467=)

SNV
Germline

Chr14:67781501

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239770

rs_138543433

3 SubmittersRCV000305594 RCV000862747 RCV001200593

NM_015346.4(ZFYVE26):c.4338A>T (p.Ile1446=)

SNV
Germline

Chr14:67782814

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239793

rs_765803190

2 SubmittersRCV000408075 RCV002056411

NM_015346.4(ZFYVE26):c.2401+11T>A

SNV
Germline

Chr14:67794160

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240302

rs_191741115

3 SubmittersRCV000365485 RCV001705470 RCV002056412

NM_015346.4(ZFYVE26):c.249G>T (p.Leu83=)

SNV
Germline

Chr14:67814010

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240854

rs_199674363

2 SubmittersRCV000268119 RCV001449118

NM_015346.4(ZFYVE26):c.-70A>T

SNV
Germline

Chr14:67816033

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10635139

rs_17192296

3 SubmittersRCV000386931 RCV000438375 RCV001848654

NM_001122955.4(BSCL2):c.88-662C>A

SNV
Germline

Chr11:62706279

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10635198

rs_117597269

3 SubmittersRCV000286276 RCV000378430 RCV001778896 RCV001848084

NM_144599.5(NIPA1):c.753G>C (p.Ala251=)

SNV
Germline

Chr15:22824002

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided
NIPA1-related disorder

Criteria Provided
Conflicting Classifications

CA7426005

rs_199718530

4 SubmittersRCV000338061 RCV003422263 RCV003930350

NM_025137.4(SPG11):c.7000-8C>T

SNV
Germline

Chr15:44564706

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA10636034

rs_886051177

2 SubmittersRCV000323498

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

Criteria Provided
Conflicting Classifications

CA7534385

rs_375403626

4 SubmittersRCV000685697 RCV002467736 RCV002348056 RCV002467737

NM_025137.4(SPG11):c.2169C>T (p.Gly723=)

SNV
Germline

Chr15:44626406

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7535334

rs_371338650

4 SubmittersRCV000642599 RCV002418168 RCV003930354

NM_002860.4(ALDH18A1):c.*140C>T

SNV
Germline

Chr10:95606622

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10636990

rs_76824727

2 SubmittersRCV000375067 RCV001848073

NM_004984.4(KIF5A):c.292-14C>A

SNV
Germline

Chr12:57564094

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6652557

rs_778921032

2 SubmittersRCV000336615 RCV002056322

NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)

SNV
Germline

Chr12:57575666

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
KIF5A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6652946

rs_370644634

4 SubmittersRCV000319934 RCV001306129 RCV004549673 RCV001812799

NM_004984.4(KIF5A):c.2271C>T (p.His757=)

SNV
Germline

Chr12:57576833

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Hereditary spastic paraplegia
KIF5A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6653062

rs_374554951

5 SubmittersRCV000334627 RCV001451082 RCV001848091 RCV004549674 RCV003389790

NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=)

SNV
Germline

Chr12:57581497

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653224

rs_781143696

2 SubmittersRCV000391555 RCV002520825

NM_024306.5(FA2H):c.1113G>C (p.Thr371=)

SNV
Germline

Chr16:74714196

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
not specified
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170302

rs_140017632

5 SubmittersRCV000357673 RCV000517834 RCV000827111 RCV001086914

NM_003119.4(SPG7):c.618+14C>T

SNV
Germline

Chr16:89524261

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243691

rs_574361328

2 SubmittersRCV000396965

NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)

SNV
Germline

Chr16:89553940

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8244521

rs_754203248

3 SubmittersRCV000393347 RCV000869510

NM_014363.6(SACS):c.6069C>T (p.Asn2023=)

SNV
Germline

Chr13:23337807

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911143

rs_35369023

6 SubmittersRCV000289978 RCV000861552 RCV001660626 RCV001848100

NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)

SNV
Germline

Chr13:23339759

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911431

rs_61326562

5 SubmittersRCV000323040 RCV000884011 RCV001848103

NM_014363.6(SACS):c.3144A>G (p.Val1048=)

SNV
Germline

Chr13:23340732

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911561

rs_3751369

7 SubmittersRCV000279611 RCV000712974 RCV001081930 RCV001848104 RCV004748723

NM_014363.6(SACS):c.1066A>G (p.Ile356Val)

SNV
Germline

Chr13:23355546

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911978

rs_148286091

6 SubmittersRCV000348179 RCV001848108 RCV001660628 RCV002522279

NM_015915.5(ATL1):c.622C>T (p.Pro208Ser)

SNV
Germline

Chr14:50595624

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases
ATL1-related disorder

Criteria Provided
Conflicting Classifications

CA7180294

rs_147839037

5 SubmittersRCV000406065 RCV000428652 RCV002365364 RCV003409489

NM_015915.5(ATL1):c.756C>T (p.Asn252=)

SNV
Germline

Chr14:50614405

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7180340

rs_771031586

4 SubmittersRCV000871475 RCV002392857 RCV004999300

NM_015915.5(ATL1):c.969G>C (p.Arg323=)

SNV
Germline

Chr14:50620705

Conflicting classifications of pathogenicity

Spastic paraplegia, autosomal dominant
Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180371

rs_753145983

3 SubmittersRCV000333856 RCV001435351 RCV002374532

NM_015346.4(ZFYVE26):c.*583C>T

SNV
Germline

Chr14:67747853

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640683

rs_72723172

2 SubmittersRCV000391305 RCV002262985

NM_015346.4(ZFYVE26):c.*88G>A

SNV
Germline

Chr14:67748348

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640687

rs_73276691

2 SubmittersRCV000272454 RCV001590939

NM_015346.4(ZFYVE26):c.6160-13A>G

SNV
Germline

Chr14:67762425

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239292

rs_759043669

2 SubmittersRCV000358380 RCV002061162

NM_015346.4(ZFYVE26):c.6135C>T (p.Ala2045=)

SNV
Germline

Chr14:67762696

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239308

rs_146209388

3 SubmittersRCV000268394 RCV000427351 RCV000633107

NM_015346.4(ZFYVE26):c.4974+12C>T

SNV
Germline

Chr14:67777547

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239630

rs_200969714

2 SubmittersRCV000340554 RCV002056410

NM_015346.4(ZFYVE26):c.4035G>T (p.Val1345=)

SNV
Germline

Chr14:67783117

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239851

rs_374530573

5 SubmittersRCV000333452 RCV000442507 RCV000860479 RCV001848646 RCV003311751

NM_015346.4(ZFYVE26):c.2859A>T (p.Leu953=)

SNV
Germline

Chr14:67789495

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7240154

rs_189616103

3 SubmittersRCV000301379 RCV000860527 RCV003409491

NM_015346.4(ZFYVE26):c.2427C>T (p.Gly809=)

SNV
Germline

Chr14:67793734

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7240277

rs_144063215

4 SubmittersRCV000269255 RCV000612844 RCV000867636 RCV003969878

NM_144599.5(NIPA1):c.*2070A>C

SNV
Germline

Chr15:22826309

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641470

rs_746614226

2 SubmittersRCV000363629 RCV003221910

NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser)

SNV
Germline

Chr15:44572742

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534186

rs_185665930

5 SubmittersRCV000863585 RCV002365371 RCV003332160

NM_025137.4(SPG11):c.5664T>C (p.Asp1888=)

SNV
Germline

Chr15:44584016

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10641941

rs_886051181

2 SubmittersRCV000302068 RCV002348055

NM_025137.4(SPG11):c.4162-10T>C

SNV
Germline

Chr15:44596365

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534740

rs_765557765

3 SubmittersRCV000972966 RCV004772894

NM_025137.4(SPG11):c.4137A>G (p.Gln1379=)

SNV
Germline

Chr15:44596808

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534757

rs_748617459

3 SubmittersRCV000372895 RCV002328828

NM_025137.4(SPG11):c.3038+14A>G

SNV
Germline

Chr15:44615349

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified

Criteria Provided
Conflicting Classifications

CA7535085

rs_774593393

3 SubmittersRCV000285130 RCV004767228

NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)

SNV
Germline

Chr15:44648910

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535527

rs_557277528

7 SubmittersRCV000318542 RCV001529614 RCV002402029

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_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys)

SNV
Germline

Chr12:57583148

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653311

rs_756348570

2 SubmittersRCV000263091 RCV001850634

NM_004984.4(KIF5A):c.396+13C>T

SNV
Germline

Chr12:57564225

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6652568

rs_377008480

2 SubmittersRCV000315550 RCV002056323

NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)

SNV
Germline

Chr12:57581887

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653255

rs_139801016

7 SubmittersRCV000391548 RCV001039954 RCV000994942 RCV001260220 RCV001848094

NM_004984.4(KIF5A):c.*326G>T

SNV
Germline

Chr12:57584507

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642979

rs_150199729

3 SubmittersRCV000292786 RCV003391114

NM_014363.6(SACS):c.12438G>A (p.Ser4146=)

SNV
Germline

Chr13:23331438

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910143

rs_150959878

5 SubmittersRCV000268383 RCV000861751 RCV001848096 RCV003992276

NM_014363.6(SACS):c.10443C>G (p.Leu3481=)

SNV
Germline

Chr13:23333433

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910450

rs_144087359

9 SubmittersRCV000361442 RCV000862081 RCV001288370 RCV001723893 RCV001848097

NM_014363.6(SACS):c.7647T>G (p.Leu2549=)

SNV
Germline

Chr13:23336229

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910879

rs_186301471

5 SubmittersRCV000310623 RCV000865836 RCV001848098

NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)

SNV
Germline

Chr13:23338654

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911277

rs_201724656

5 SubmittersRCV000354216 RCV000876841 RCV001848101

NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)

SNV
Germline

Chr13:23355149

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911912

rs_375875022

6 SubmittersRCV000317718 RCV000464896 RCV000712962 RCV001848106

NM_001166114.2(PNPLA6):c.315+13C>T

SNV
Germline

Chr19:7536286

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified

Criteria Provided
Conflicting Classifications

CA9139408

rs_200676307

3 SubmittersRCV000319802 RCV000433731

NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=)

SNV
Germline

Chr19:7540242

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139524

rs_566213812

3 SubmittersRCV000316213 RCV003418044

NM_001166114.2(PNPLA6):c.714+6T>G

SNV
Germline

Chr19:7540314

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139534

rs_368637145

3 SubmittersRCV000389421 RCV004725171

NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=)

SNV
Germline

Chr19:7542027

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139716

rs_748049105

2 SubmittersRCV000291991

NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=)

SNV
Germline

Chr19:7550598

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139987

rs_779751590

2 SubmittersRCV000303880

NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=)

SNV
Germline

Chr19:7555673

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140296

rs_145459571

3 SubmittersRCV000330381 RCV003884491

NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)

SNV
Germline

Chr13:23336924

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910993

rs_147949881

11 SubmittersRCV000371368 RCV000712986 RCV001247269 RCV001642968 RCV001848099 RCV002520865

NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)

SNV
Germline

Chr13:23354700

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911820

rs_200333323

7 SubmittersRCV000306464 RCV001400059 RCV001288709 RCV001848105 RCV004955414 RCV004748724

NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)

SNV
Germline

Chr13:23355393

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911950

rs_201569239

4 SubmittersRCV000333051 RCV001848107 RCV002472984 RCV002520871

NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)

SNV
Germline

Chr16:74774524

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8170617

rs_527421775

10 SubmittersRCV000303256 RCV001171919 RCV001246003 RCV001848665 RCV002222486 RCV002522890

NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=)

SNV
Germline

Chr14:67755218

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239129

rs_144007962

5 SubmittersRCV000391713 RCV000518776 RCV000468012 RCV001731593 RCV001848116

NM_003119.4(SPG7):c.306C>T (p.Asn102=)

SNV
Germline

Chr16:89512967

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8243514

rs_147397994

3 SubmittersRCV000381153 RCV001539840

NM_003119.4(SPG7):c.1359G>A (p.Ala453=)

SNV
Germline

Chr16:89544682

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

CA8244155

rs_115448299

3 SubmittersRCV000274144 RCV000419596

NM_003119.4(SPG7):c.1971C>T (p.Ile657=)

SNV
Germline

Chr16:89553828

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244503

rs_140356355

2 SubmittersRCV000373621

NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)

SNV
Germline

Chr14:67807511

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
not specified
Spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7240705

rs_150230201

6 SubmittersRCV000292145 RCV000860644 RCV001660641 RCV001081273 RCV003910183

NM_015915.5(ATL1):c.1152A>G (p.Pro384=)

SNV
Germline

Chr14:50628063

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180448

rs_377127492

4 SubmittersRCV000608836 RCV000865579 RCV002348051

NM_144599.5(NIPA1):c.*5185C>T

SNV
Germline

Chr15:22829424

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645601

rs_569739849

2 SubmittersRCV000400975 RCV003422261

NM_015346.4(ZFYVE26):c.7617G>A (p.Lys2539=)

SNV
Germline

Chr14:67748439

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7238907

rs_550301037

3 SubmittersRCV000377251 RCV000877392 RCV001848114

NM_015346.4(ZFYVE26):c.7248A>G (p.Lys2416=)

SNV
Germline

Chr14:67752467

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10645790

rs_886050652

2 SubmittersRCV000281442 RCV000860554

NM_015346.4(ZFYVE26):c.6849A>G (p.Thr2283=)

SNV
Germline

Chr14:67755188

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239123

rs_74935043

3 SubmittersRCV000351144 RCV000861277 RCV001718646

NM_015346.4(ZFYVE26):c.6339A>G (p.Leu2113=)

SNV
Germline

Chr14:67762233

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239259

rs_764363798

2 SubmittersRCV000303700 RCV001418774

NM_015346.4(ZFYVE26):c.6011+7G>A

SNV
Germline

Chr14:67766220

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239339

rs_149860093

2 SubmittersRCV000316966 RCV000872564

NM_015346.4(ZFYVE26):c.5225C>G (p.Ser1742Cys)

SNV
Germline

Chr14:67775111

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7239557

rs_193244014

3 SubmittersRCV000333316 RCV000870022 RCV003972338

NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)

SNV
Germline

Chr14:67782859

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7239804

rs_373740172

5 SubmittersRCV000355669 RCV000419450 RCV000633053 RCV001848118 RCV004965400

NM_015346.4(ZFYVE26):c.1369C>G (p.Leu457Val)

SNV
Germline

Chr14:67804167

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7240542

rs_201917832

4 SubmittersRCV000324829 RCV000863809 RCV001565240 RCV001660640

NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)

SNV
Germline

Chr14:67807607

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Condition: not provided
Spastic paraplegia
Tip-toe gait
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7240736

rs_147919567

11 SubmittersRCV000314561 RCV000517889 RCV000513295 RCV001079194 RCV002227471 RCV001848652 RCV003930346

NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)

SNV
Germline

Chr14:67807841

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Inborn genetic diseases
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7240783

rs_144919978

6 SubmittersRCV000308862 RCV000518599 RCV000865318 RCV004021611 RCV003910184

NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys)

SNV
Germline

Chr14:67809202

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7240820

rs_201229339

7 SubmittersRCV000264348 RCV000993051 RCV002522320 RCV002520917

NM_015346.4(ZFYVE26):c.30T>G (p.Ala10=)

SNV
Germline

Chr14:67815934

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7240902

rs_141905183

5 SubmittersRCV000263317 RCV000860555 RCV001705471 RCV004999307

NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)

SNV
Germline

Chr15:44565976

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7533963

rs_151317653

5 SubmittersRCV000459952 RCV001541266 RCV002365370

NM_025137.4(SPG11):c.6007-6T>C

SNV
Germline

Chr15:44573751

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA10646021

rs_886051180

2 SubmittersRCV000395913

NM_025137.4(SPG11):c.4001+9G>T

SNV
Germline

Chr15:44598256

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7534797

rs_141177255

3 SubmittersRCV000516184 RCV001082495

NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr)

SNV
Germline

Chr15:44629323

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535435

rs_775799559

4 SubmittersRCV000558428 RCV002411207 RCV002244797

NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)

SNV
Germline

Chr15:64970137

Conflicting classifications of pathogenicity

Mast syndrome
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA7612942

rs_149251662

6 SubmittersRCV000705591 RCV000713450 RCV001848660 RCV001642988

NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)

SNV
Germline

Chr17:64492910

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8712956

rs_148101254

5 SubmittersRCV000335486 RCV000441311 RCV000421922 RCV001848667

NM_025137.4(SPG11):c.7203A>G (p.Leu2401=)

SNV
Germline

Chr15:44563250

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10647000

rs_886051176

2 SubmittersRCV000303411 RCV002374536

NM_025137.4(SPG11):c.7146C>T (p.Ser2382=)

SNV
Germline

Chr15:44564552

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7533897

rs_747227352

4 SubmittersRCV000528519 RCV002365369 RCV003401329

NM_025137.4(SPG11):c.6205+10C>G

SNV
Germline

Chr15:44573537

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7534238

rs_548551204

2 SubmittersRCV000860604

NM_025137.4(SPG11):c.5407C>T (p.Leu1803=)

SNV
Germline

Chr15:44584273

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534411

rs_200102584

3 SubmittersRCV000395929 RCV002348057

NM_025137.4(SPG11):c.3145+12C>T

SNV
Germline

Chr15:44613418

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535052

rs_375672539

2 SubmittersRCV000379567

NM_025137.4(SPG11):c.2317-13C>G

SNV
Germline

Chr15:44622360

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647003

rs_372670941

4 SubmittersRCV000310734 RCV002286730

NM_025137.4(SPG11):c.2245-13A>G

SNV
Germline

Chr15:44622812

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535308

rs_200426807

2 SubmittersRCV000346867

NM_025137.4(SPG11):c.257+13G>A

SNV
Germline

Chr15:44663378

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7535917

rs_201936649

7 SubmittersRCV000625162 RCV000837894 RCV003969884

NM_024306.5(FA2H):c.570C>A (p.Thr190=)

SNV
Germline

Chr16:74726268

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8170484

rs_138892784

4 SubmittersRCV000291663 RCV000633114 RCV001697665

NM_024306.5(FA2H):c.540G>T (p.Val180=)

SNV
Germline

Chr16:74726298

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170490

rs_150423523

2 SubmittersRCV000344071 RCV000865404

NM_003119.4(SPG7):c.663G>A (p.Lys221=)

SNV
Germline

Chr16:89526373

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243734

rs_575421836

2 SubmittersRCV000343162

NM_005619.5(RTN2):c.986G>A (p.Ser329Asn)

SNV
Germline

Chr19:45493207

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 12
Spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9516115

rs_145653668

4 SubmittersRCV000269406 RCV001850768 RCV002523071 RCV003409524

NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)

SNV
Germline

Chr16:74716542

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA8170371

rs_199815871

8 SubmittersRCV000383560 RCV000416009 RCV001080196 RCV001848663 RCV002307485

NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=)

SNV
Germline

Chr19:7555628

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140289

rs_752794292

2 SubmittersRCV000275462

NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=)

SNV
Germline

Chr19:7549978

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139903

rs_761103593

2 SubmittersRCV000408428

NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=)

SNV
Germline

Chr19:7555353

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140262

rs_767028461

2 SubmittersRCV000369978

NM_001166114.2(PNPLA6):c.3397+11G>T

SNV
Germline

Chr19:7557295

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140443

rs_370597983

2 SubmittersRCV000384874

NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=)

SNV
Germline

Chr19:7558944

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140499

rs_577065342

3 SubmittersRCV000290616 RCV003418045

NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)

SNV
Germline

Chr19:7559001

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9140508

rs_35770729

7 SubmittersRCV000646162 RCV001288685 RCV001848673

NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)

SNV
Germline

Chr19:29708346

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9351991

rs_544395324

5 SubmittersRCV000330049 RCV000797968 RCV003144216

NM_001166114.2(PNPLA6):c.2402-11C>A

SNV
Germline

Chr19:7554198

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140091

rs_756209420

2 SubmittersRCV000300253

NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=)

SNV
Germline

Chr19:7561079

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140620

rs_202070445

2 SubmittersRCV000342031

NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=)

SNV
Germline

Chr19:7561109

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140624

rs_149871062

4 SubmittersRCV000424871 RCV000864645 RCV004544603

NM_001166114.2(PNPLA6):c.4024-13C>T

SNV
Germline

Chr19:7561475

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140686

rs_78093267

2 SubmittersRCV000281944

NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)

SNV
Germline

Chr13:23338247

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911218

rs_761089024

6 SubmittersRCV000409299 RCV000515938 RCV001865273

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_001244008.2(KIF1A):c.803G>A (p.Gly268Glu)

SNV
Germline

Chr2:240783105

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA16042466

rs_1057518226

2 SubmittersRCV000413291 RCV003766154

NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)

SNV
Germline

Chr14:67797750

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16042934

rs_1057518016

6 SubmittersRCV000413277 RCV000664216 RCV001383171

NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)

SNV
Germline

Chr15:44573742

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534277

rs_200220848

8 SubmittersRCV000413070 RCV000713421 RCV001088264 RCV002356511

NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)

SNV
Germline

Chr16:74774617

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA16043088

rs_1057518032

3 SubmittersRCV000413571 RCV001336096 RCV001337611

NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)

SNV
Germline

Chr19:7558970

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39
Rod-cone dystrophy

Criteria Provided
Conflicting Classifications

CA16043120

rs_1057517802

4 SubmittersRCV000413765 RCV000696127 RCV001376230

NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)

SNV
Germline

Chr2:240788182

Pathogenic/Likely pathogenic

Lower limb hyperreflexia
Spastic paraplegia
Clonus
Hyperreflexia
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA16043389

rs_1057518760

5 SubmittersRCV000414911 RCV001251219 RCV001861441

NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)

SNV
Germline

Chr10:95823245

Conflicting classifications of pathogenicity

Global developmental delay
Microcephaly
Polymicrogyria
Hereditary spastic paraplegia 64
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5621309

rs_150772804

5 SubmittersRCV000415148 RCV000556080 RCV004808701 RCV001848735

NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)

SNV
Germline

Chr15:44584299

Conflicting classifications of pathogenicity

Difficulty walking
Spastic paraparesis
Generalized hyperreflexia
Gait disturbance
Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534422

rs_201689565

18 SubmittersRCV000414944 RCV000801301 RCV001268887 RCV001848737 RCV003105892 RCV003483611 RCV003168606 RCV004767249

NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)

SNV
Germline

Chr15:44598738

Conflicting classifications of pathogenicity

Difficulty walking
Spastic paraparesis
Generalized hyperreflexia
Gait disturbance
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA16043489

rs_1057518874

2 SubmittersRCV000415188 RCV001197643

NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)

SNV
Germline

Chr19:7561509

Pathogenic/Likely pathogenic

Cerebellar ataxia
Hypogonadotropic hypogonadism 7 with or without anosmia
Dysarthria
Gait ataxia
Cerebellar atrophy
Dysarthria
Condition: not provided
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
PNPLA6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA9140693

rs_374434303

9 SubmittersRCV000414761 RCV000415064 RCV001268258 RCV001643137 RCV001861448 RCV003235202

NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=)

SNV
Germline

Chr14:53046822

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

CA7190923

rs_374202355

2 SubmittersRCV000416235 RCV002521470

NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter)

SNV
Germline

Chr4:107949457

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 56

Criteria Provided
Multiple Submitters
No Conflicts

CA3037195

rs_766380148

4 SubmittersRCV000415839 RCV001805035

NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)

SNV
Germline

Chr2:32116180

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16043827

rs_1057519181

3 SubmittersRCV000416011 RCV001391499 RCV004022186

NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter)

SNV
Germline

Chr2:240723538

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA16043890

rs_1057519240

2 SubmittersRCV000415884 RCV003766169

NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)

SNV
Germline

Chr7:4787644

Pathogenic

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4137764

rs_373919408

5 SubmittersRCV000416330 RCV001848739 RCV003422385

NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter)

SNV
Germline

Chr7:4783361

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137202

rs_778457903

3 SubmittersRCV000416347

NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter)

SNV
Germline

Chr7:4789856

Pathogenic

Hereditary spastic paraplegia 48
Retinal dystrophy

Criteria Provided
Single Submitter

CA16044055

rs_1057519342

2 SubmittersRCV000416332 RCV004816651

NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His)

SNV
Germline

Chr2:240719133

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207179

rs_756912340

5 SubmittersRCV000437574 RCV000527406 RCV000764389 RCV002328908

NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu)

SNV
Germline

Chr2:240719824

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207238

rs_184939069

5 SubmittersRCV000418762 RCV000500845 RCV001324698 RCV002524723

NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)

SNV
Germline

Chr2:240721011

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207302

rs_201139273

12 SubmittersRCV000437823 RCV000544072 RCV001848743 RCV002338983 RCV004544732

NM_007215.4(POLG2):c.694G>A (p.Gly232Ser)

SNV
Germline

Chr17:64492768

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8712943

rs_143660836

5 SubmittersRCV000438898 RCV001848744

NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)

SNV
Germline

Chr1:113900263

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 47
Intellectual disability
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
AP4B1-related disorder

Criteria Provided
Conflicting Classifications

CA1016017

rs_141417436

10 SubmittersRCV000425918 RCV000463656 RCV001251671 RCV001821192 RCV001848780 RCV002313102 RCV003912733

NM_001244008.2(KIF1A):c.4666-5C>T

SNV
Germline

Chr2:240721889

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207350

rs_532806732

4 SubmittersRCV000639803 RCV001531527 RCV002339088

NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=)

SNV
Germline

Chr2:240746169

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases
not specified
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207908

rs_73102625

7 SubmittersRCV000552841 RCV001310791 RCV001139122 RCV002436275 RCV001821174 RCV004533010

NM_001244008.2(KIF1A):c.258T>C (p.Phe86=)

SNV
Germline

Chr2:240788156

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208842

rs_183284555

5 SubmittersRCV000440976 RCV000553779 RCV001141871 RCV001703687

NM_001244008.2(KIF1A):c.138G>A (p.Thr46=)

SNV
Germline

Chr2:240789281

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208892

rs_192880105

5 SubmittersRCV000438745 RCV000878072 RCV001143664 RCV001704505 RCV002393033

NM_001244008.2(KIF1A):c.5214+14C>T

SNV
Germline

Chr2:240718992

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207153

rs_777141916

3 SubmittersRCV000428782 RCV001141522 RCV002059580

NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)

SNV
Germline

Chr2:240746109

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
not specified
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207897

rs_373045276

7 SubmittersRCV000530369 RCV001310790 RCV001821197 RCV001848786 RCV002311502

NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=)

SNV
Germline

Chr2:240719878

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207248

rs_187810230

6 SubmittersRCV000544996 RCV001084977 RCV001143356 RCV002313134

NM_001244008.2(KIF1A):c.3160G>A (p.Val1054Met)

SNV
Germline

Chr2:240746081

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207892

rs_371233697

4 SubmittersRCV000441720 RCV002522645 RCV000706002

NM_001244008.2(KIF1A):c.2493G>T (p.Val831=)

SNV
Germline

Chr2:240758449

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2208083

rs_201861261

8 SubmittersRCV000538866 RCV001141747 RCV001080669 RCV002450972 RCV004737470

NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=)

SNV
Germline

Chr2:240769193

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208393

rs_375180690

7 SubmittersRCV001086485 RCV001136990 RCV000712143 RCV002314150

NM_014946.4(SPAST):c.415+1G>T

SNV
Germline

Chr2:32064247

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16604220

rs_1057521135

2 SubmittersRCV000422615 RCV003522968

NM_014946.4(SPAST):c.871-1G>C

SNV
Germline

Chr2:32115701

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16604222

rs_1057524526

2 SubmittersRCV000420305 RCV003522978

NM_001371279.1(REEP1):c.408T>A (p.Ala136=)

SNV
Germline

Chr2:86251966

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 31
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1748755

rs_368965566

5 SubmittersRCV000437729 RCV000641689 RCV001662386 RCV002323628

NM_001244008.2(KIF1A):c.4545G>T (p.Pro1515=)

SNV
Germline

Chr2:240722576

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207392

rs_540399320

4 SubmittersRCV000439256 RCV001848782 RCV002059752 RCV002328969

NM_001244008.2(KIF1A):c.4249T>A (p.Ser1417Thr)

SNV
Germline

Chr2:240725278

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA2207456

rs_200855792

3 SubmittersRCV000439719 RCV002328970 RCV002522361

NM_014946.4(SPAST):c.19C>A (p.Arg7=)

SNV
Germline

Chr2:32063850

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600454

rs_779449573

2 SubmittersRCV000426065 RCV002056663

NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys)

SNV
Germline

Chr7:100102904

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 50
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA4374557

rs_200347699

4 SubmittersRCV000434728 RCV001088095 RCV003959945

NM_015214.3(DDHD2):c.1009A>C (p.Arg337=)

SNV
Germline

Chr8:38245902

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 54
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4716134

rs_778628163

4 SubmittersRCV000432313 RCV001415213 RCV001848763

NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)

SNV
Germline

Chr8:64616101

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4764210

rs_754730601

5 SubmittersRCV000441505 RCV001391405 RCV001861511

NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)

SNV
Germline

Chr10:100990885

Conflicting classifications of pathogenicity

Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Hereditary spastic paraplegia
not specified
TWNK-related disorder

Criteria Provided
Conflicting Classifications

CA5653294

rs_144001072

7 SubmittersRCV000726623 RCV001105999 RCV001105997 RCV001105998 RCV001106000 RCV001848766 RCV003993959 RCV004533016

NM_025137.4(SPG11):c.2280C>T (p.Cys760=)

SNV
Germline

Chr15:44622764

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535301

rs_567932275

5 SubmittersRCV001848788 RCV000732366 RCV001087449 RCV002446735

NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)

SNV
Germline

Chr10:95606918

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Hereditary spastic paraplegia
Condition: not provided
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
ALDH18A1-related disorder

Criteria Provided
Conflicting Classifications

CA5620100

rs_148601288

6 SubmittersRCV001104017 RCV001848793 RCV000639569 RCV003766437 RCV004533121

NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)

SNV
Germline

Chr14:50590980

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180213

rs_112496709

6 SubmittersRCV000647937 RCV001702364 RCV002446648

NM_015915.5(ATL1):c.1078G>A (p.Val360Met)

SNV
Germline

Chr14:50623207

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180418

rs_373267047

4 SubmittersRCV000647932 RCV001721415 RCV002418324

NM_002693.3(POLG):c.2880C>T (p.Pro960=)

SNV
Germline

Chr15:89320867

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724332

rs_752500492

6 SubmittersRCV000549125 RCV000727181 RCV001848746 RCV003985778

NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)

SNV
Germline

Chr15:44563298

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16607073

rs_778305085

4 SubmittersRCV000441784 RCV000528304 RCV001095472

NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)

SNV
Germline

Chr16:74740049

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 35
Condition: not provided
not specified
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8170582

rs_141276237

8 SubmittersRCV000633072 RCV001115914 RCV001712218 RCV001821170 RCV001848762 RCV002524896

NM_007215.4(POLG2):c.315G>A (p.Glu105=)

SNV
Germline

Chr17:64496654

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8713056

rs_142121495

4 SubmittersRCV000426439 RCV000922930 RCV001848745

NM_003119.4(SPG7):c.244C>G (p.Gln82Glu)

SNV
Germline

Chr16:89510550

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8243475

rs_146115797

3 SubmittersRCV000424051 RCV002524804 RCV002521540

NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)

SNV
Germline

Chr16:89544770

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8244174

rs_562890289

4 SubmittersRCV000420140 RCV000515851 RCV001865382

NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)

SNV
Germline

Chr14:67777679

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7239652

rs_151287975

9 SubmittersRCV000443553 RCV000466291 RCV000604782 RCV001171677 RCV001848796 RCV003932691

NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)

SNV
Germline

Chr17:5007292

Conflicting classifications of pathogenicity

not specified
Spastic ataxia 2
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318954

rs_142825776

4 SubmittersRCV000421127 RCV001451575 RCV001311102 RCV001848778

NM_144599.5(NIPA1):c.21A>G (p.Ala7=)

SNV
Germline

Chr15:22786677

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7426232

rs_749414711

4 SubmittersRCV000531973 RCV001720074 RCV001848757

NM_025137.4(SPG11):c.3453+5A>G

SNV
Germline

Chr15:44608439

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 11
SPG11-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16607785

rs_983973496

6 SubmittersRCV000431719 RCV001531201 RCV001117294 RCV003899895 RCV004022497

NM_001166114.2(PNPLA6):c.2185-15C>T

SNV
Germline

Chr19:7551347

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140025

rs_780822241

3 SubmittersRCV000437133 RCV001128916

NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)

SNV
Germline

Chr19:7536013

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9139370

rs_553088930

5 SubmittersRCV000439611 RCV000861687 RCV001848795

NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)

SNV
Germline

Chr19:7561248

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39
Condition: not provided
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140650

rs_34030828

7 SubmittersRCV000422260 RCV000457238 RCV001721287 RCV001848779 RCV004533066

NM_003119.4(SPG7):c.1325-6C>T

SNV
Germline

Chr16:89544642

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8244149

rs_371986686

5 SubmittersRCV000434380 RCV000474127 RCV002524805 RCV003456395

NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)

SNV
Germline

Chr19:7550418

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9139962

rs_138023728

8 SubmittersRCV000712781 RCV001084454 RCV001706636 RCV001848787

NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)

SNV
Germline

Chr2:32126960

Likely pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16609412

rs_1060499670

2 SubmittersRCV000449607 RCV001848797

NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)

SNV
Germline

Chr2:201718172

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2057766

rs_3219166

9 SubmittersRCV000473535 RCV001143531 RCV001143532 RCV001662448 RCV001531945 RCV001848840

NM_020919.4(ALS2):c.1578A>G (p.Thr526=)

SNV
Germline

Chr2:201754565

Conflicting classifications of pathogenicity

Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058423

rs_147284131

5 SubmittersRCV000469355 RCV001087516 RCV001848841

NM_014946.4(SPAST):c.1173+1G>A

SNV
Germline

Chr2:32127023

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610827

rs_1060502226

3 SubmittersRCV000472388 RCV000518279

NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)

SNV
Germline

Chr2:32136593

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610830

rs_1060502227

5 SubmittersRCV000459046 RCV000482415

NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr)

SNV
Germline

Chr2:32137178

Pathogenic

Hereditary spastic paraplegia 4
SPAST-related disorder

Criteria Provided
Single Submitter

CA16610831

rs_1060502228

2 SubmittersRCV000468513 RCV003972759

NM_014946.4(SPAST):c.127G>T (p.Glu43Ter)

SNV
Germline

Chr2:32063958

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA16610962

rs_573642949

1 SubmittersRCV000461473

NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)

SNV
Germline

Chr2:86264034

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16611230

rs_1060503494

2 SubmittersRCV000457155 RCV001848818

NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg)

SNV
Germline

Chr2:86282219

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA16611232

rs_1060503496

1 SubmittersRCV000466973

NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu)

SNV
Germline

Chr4:107931951

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 56
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3036967

rs_147506864

4 SubmittersRCV000466558 RCV001333700 RCV001848810 RCV004760512

NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)

SNV
Germline

Chr7:4788272

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4137875

rs_186003800

11 SubmittersRCV000476354 RCV001508573 RCV001848820 RCV004525935 RCV004816679

NM_014855.3(AP5Z1):c.1062C>T (p.His354=)

SNV
Germline

Chr7:4785614

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4137582

rs_192441133

4 SubmittersRCV000471286 RCV001532098 RCV001848843

NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)

SNV
Germline

Chr8:125055602

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612351

rs_1060502725

3 SubmittersRCV000490087 RCV001391386 RCV002230093

NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)

SNV
Germline

Chr7:4788262

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA4137868

rs_182411153

5 SubmittersRCV000710598 RCV001085751 RCV001848842 RCV004999521

NM_014855.3(AP5Z1):c.1595+4C>T

SNV
Germline

Chr7:4788298

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137885

rs_141607676

3 SubmittersRCV000459690 RCV001555482

NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=)

SNV
Germline

Chr7:4790516

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4138161

rs_780422345

2 SubmittersRCV001162875

NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)

SNV
Germline

Chr12:57570133

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
Condition: not provided
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6652803

rs_748402153

5 SubmittersRCV000458531 RCV001114824 RCV001289240 RCV004551528

NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)

SNV
Germline

Chr13:23334472

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6910624

rs_371019314

7 SubmittersRCV000463355 RCV000712993 RCV001782958 RCV001848816

NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)

SNV
Germline

Chr12:57569403

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 10
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA16613836

rs_1012819766

7 SubmittersRCV000464334 RCV000713413 RCV001391463 RCV001848809

NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)

SNV
Germline

Chr13:23335631

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6910801

rs_186436335

6 SubmittersRCV000473308 RCV000594324 RCV000765121 RCV001848817 RCV004999477

NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg)

SNV
Germline

Chr14:102434423

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7357757

rs_186595127

3 SubmittersRCV000476819 RCV001848806

NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)

SNV
Germline

Chr14:102434798

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Condition: not provided
not specified
Hereditary spastic paraplegia
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7357821

rs_144915346

11 SubmittersRCV000472228 RCV001507864 RCV001844164 RCV001848807 RCV002252133 RCV002525577

NM_015915.5(ATL1):c.990+4T>A

SNV
Germline

Chr14:50620730

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180374

rs_372029461

3 SubmittersRCV000464748 RCV000518566 RCV002379471

NM_001160148.2(DDHD1):c.156C>T (p.Gly52=)

SNV
Germline

Chr14:53152943

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7191576

rs_367621941

4 SubmittersRCV000477140 RCV001721525 RCV001848828

NM_015915.5(ATL1):c.461A>G (p.Gln154Arg)

SNV
Germline

Chr14:50591578

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Abnormal pyramidal sign

Criteria Provided
Conflicting Classifications

CA16614191

rs_1060502971

2 SubmittersRCV000469923 RCV001526629

NM_015346.4(ZFYVE26):c.7050T>C (p.Ala2350=)

SNV
Germline

Chr14:67754149

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7239076

rs_139364887

3 SubmittersRCV000469415 RCV001119563 RCV003932727

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
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
not specified
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534494

rs_145643238

17 SubmittersRCV000456956 RCV000658710 RCV001252107 RCV002467808 RCV002339138 RCV002467809 RCV003483617 RCV003488606 RCV004748768

NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)

SNV
Germline

Chr15:44620368

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Amyotrophic lateral sclerosis
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535167

rs_139687202

10 SubmittersRCV000475662 RCV000518728 RCV001260217 RCV001563519 RCV001848826

NM_025137.4(SPG11):c.176C>T (p.Ala59Val)

SNV
Germline

Chr15:44663472

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535932

rs_552320263

7 SubmittersRCV000457651 RCV001848827 RCV002253455

NM_025137.4(SPG11):c.5867-1G>T

SNV
Germline

Chr15:44575042

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA16614459

rs_1060501168

1 SubmittersRCV000473393

NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)

SNV
Germline

Chr15:44608577

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534998

rs_201271196

4 SubmittersRCV000472310 RCV002323697 RCV003155188 RCV002496754

NM_025137.4(SPG11):c.2990T>A (p.Leu997Ter)

SNV
Germline

Chr15:44615411

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA16614460

rs_1060501176

1 SubmittersRCV000459100

NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)

SNV
Germline

Chr15:44659255

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
not specified
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535810

rs_148175530

6 SubmittersRCV000469553 RCV001788224 RCV002222513 RCV001848801 RCV002348299

NM_015346.4(ZFYVE26):c.624T>C (p.Asp208=)

SNV
Germline

Chr14:67807660

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7240754

rs_140128583

5 SubmittersRCV000713438 RCV001079707 RCV001848823 RCV003960056

NM_025137.4(SPG11):c.6586-1G>T

SNV
Germline

Chr15:44567593

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA16614602

rs_1060501174

1 SubmittersRCV000457536

NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter)

SNV
Germline

Chr15:44584522

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614614

rs_1060501173

3 SubmittersRCV000462168 RCV000627294

NM_025137.4(SPG11):c.4578A>G (p.Thr1526=)

SNV
Germline

Chr15:44595316

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534643

rs_151137503

4 SubmittersRCV000461926 RCV002341084 RCV003401498

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
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534986

rs_201082396

10 SubmittersRCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV001848803 RCV002467814 RCV002467815 RCV003401464

NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)

SNV
Germline

Chr15:44660479

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Intellectual disability
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7535855

rs_145132275

12 SubmittersRCV000460702 RCV000713418 RCV001252106 RCV002374763 RCV003942477

NM_003119.4(SPG7):c.932T>A (p.Val311Glu)

SNV
Germline

Chr16:89530753

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA16615322

rs_1060503429

1 SubmittersRCV000461245

NM_003119.4(SPG7):c.376+1G>T

SNV
Germline

Chr16:89513038

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8243546

rs_746053679

9 SubmittersRCV000467232 RCV000522524 RCV003447529

NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)

SNV
Germline

ChrX:103785717

Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16616406

rs_1060500909

4 SubmittersRCV000463096 RCV000681649 RCV003313955

NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg)

SNV
Germline

Chr19:7557242

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Condition: not provided
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA9140435

rs_773955314

4 SubmittersRCV000466086 RCV001643173 RCV001821279 RCV002290969

NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)

SNV
Germline

Chr19:7561297

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
Ataxia-hypogonadism-choroidal dystrophy syndrome
Laurence-Moon syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140664

rs_151264767

6 SubmittersRCV000470003 RCV002293441 RCV001535779

NM_014946.4(SPAST):c.1477G>T (p.Asp493Tyr)

SNV
Germline

Chr2:32137172

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA16616712

rs_1060499939

1 SubmittersRCV000468399

NM_014946.4(SPAST):c.1477G>C (p.Asp493His)

SNV
Germline

Chr2:32137172

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA16616713

rs_1060499939

3 SubmittersRCV000476656 RCV001848846

NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)

SNV
Germline

Chr1:113897926

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 47
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA1015854

rs_776976178

8 SubmittersRCV000485345 RCV000505223 RCV001849381 RCV001848851

NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn)

SNV
Germline

Chr2:240757497

Conflicting classifications of pathogenicity

Condition: not provided
KIF1A-related disorder
Hereditary spastic paraplegia 30
Inborn genetic diseases
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA16617507

rs_1064796756

6 SubmittersRCV000480827 RCV004737554 RCV001333026 RCV002431417 RCV004787792

NM_001244008.2(KIF1A):c.2536G>A (p.Gly846Arg)

SNV
Germline

Chr2:240758406

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208072

rs_768702963

3 SubmittersRCV000483282 RCV001068514 RCV002431388

NM_001244008.2(KIF1A):c.1038-6A>G

SNV
Germline

Chr2:240773262

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA16617508

rs_1064796903

2 SubmittersRCV000479826 RCV000706869

NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)

SNV
Germline

Chr2:240775889

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16617510

rs_1064793161

8 SubmittersRCV000480291 RCV000496175 RCV000705000 RCV004767290 RCV004529605

NM_001244008.2(KIF1A):c.798+1G>A

SNV
Germline

Chr2:240783738

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA16617511

rs_1064796565

2 SubmittersRCV000484840 RCV001851257

NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)

SNV
Germline

Chr2:240788110

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA16617512

rs_1064795534

6 SubmittersRCV000487011 RCV000534578 RCV001251229

NM_014946.4(SPAST):c.1225G>A (p.Ala409Thr)

SNV
Germline

Chr2:32128459

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16617528

rs_1064793273

2 SubmittersRCV000481977 RCV002525773

NM_014946.4(SPAST):c.1729-1G>A

SNV
Germline

Chr2:32154373

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16617531

rs_1064793976

3 SubmittersRCV000480764 RCV000794493

NM_015915.5(ATL1):c.1225G>T (p.Gly409Cys)

SNV
Germline

Chr14:50628136

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA16619870

rs_1064795212

2 SubmittersRCV000479836 RCV002526601

NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)

SNV
Germline

Chr14:67754158

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7239079

rs_370837940

4 SubmittersRCV000486430 RCV000984321 RCV001061340

NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)

SNV
Germline

Chr2:240797722

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA68147204

rs_548204329

6 SubmittersRCV000515907 RCV000639771 RCV001266653 RCV001310793 RCV001251222

NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln)

SNV
Germline

Chr2:32126982

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA346501261

rs_1553316816

1 SubmittersRCV000516040

NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro)

SNV
Germline

Chr2:86282217

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA347722695

rs_1266102026

1 SubmittersRCV000516005

NM_004722.4(AP4M1):c.607-2A>G

SNV
Germline

Chr7:100104872

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 50

Criteria Provided
Conflicting Classifications

CA4374708

rs_755533568

2 SubmittersRCV000515853 RCV002525981

NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)

SNV
Germline

Chr8:37753994

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4711041

rs_763958615

4 SubmittersRCV000515830 RCV001070378 RCV004791494

NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)

SNV
Germline

Chr9:132327772

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297318

rs_148604312

8 SubmittersRCV000515884 RCV000560688 RCV000859602 RCV001169791 RCV001169792 RCV002356794 RCV004541530

NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)

SNV
Germline

Chr9:132328369

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Inborn genetic diseases
Amyotrophic lateral sclerosis
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297445

rs_145097270

10 SubmittersRCV000515959 RCV000517650 RCV001082564 RCV001167391 RCV001168005 RCV001283502 RCV002446949 RCV003105922 RCV004535538

NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg)

SNV
Germline

Chr9:92720601

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Criteria Provided
Conflicting Classifications

CA374043641

rs_1367809298

2 SubmittersRCV000516028 RCV001212904

NM_004984.4(KIF5A):c.572G>A (p.Arg191His)

SNV
Germline

Chr12:57567196

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 10

Criteria Provided
Conflicting Classifications

CA385497941

rs_1488871976

2 SubmittersRCV000516106 RCV001391453

NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)

SNV
Germline

Chr12:57567514

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Spastic paraplegia
Hereditary spastic paraplegia 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA385499050

rs_1555177629

7 SubmittersRCV000516107 RCV000801216 RCV001391456 RCV002222527

NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)

SNV
Germline

Chr12:57569269

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385500471

rs_1555177824

2 SubmittersRCV000516067 RCV001391460

NM_004984.4(KIF5A):c.868G>C (p.Asp290His)

SNV
Germline

Chr12:57569304

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA385500615

rs_1555177831

1 SubmittersRCV000515861

NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)

SNV
Germline

Chr16:89513037

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA286523796

rs_912983346

3 SubmittersRCV000515979 RCV000518245 RCV003507282

NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)

SNV
Germline

Chr17:5004946

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8318865

rs_142056835

5 SubmittersRCV000487792 RCV000497507 RCV000516075 RCV001079974

NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)

SNV
Germline

Chr17:5022380

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spastic ataxia 2
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA8319262

rs_118037269

6 SubmittersRCV000516023 RCV000645370 RCV001085955 RCV003915341

NM_002361.4(MAG):c.452C>T (p.Ala151Val)

SNV
Germline

Chr19:35299590

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 75
MAG-related disorder

Criteria Provided
Conflicting Classifications

CA9376031

rs_144553163

5 SubmittersRCV000515817 RCV000553995 RCV001084459 RCV003925415

NM_015915.5(ATL1):c.922G>A (p.Glu308Lys)

SNV
Germline

Chr14:50620658

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 1D
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA7180365

rs_773401705

3 SubmittersRCV000488307 RCV001334885 RCV001856884

NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)

SNV
Germline

Chr17:5003999

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318771

rs_146872023

4 SubmittersRCV000488299 RCV001085446 RCV001848856

NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)

SNV
Germline

Chr19:7553973

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140064

rs_145988230

12 SubmittersRCV000487803 RCV000516319 RCV000613986 RCV001848857 RCV004535540

NM_001244008.2(KIF1A):c.3616C>T (p.Arg1206Trp)

SNV
Germline

Chr2:240742953

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207730

rs_772443183

3 SubmittersRCV000488364 RCV000793899 RCV001262976

NM_001244008.2(KIF1A):c.5029G>A (p.Val1677Ile)

SNV
Germline

Chr2:240719191

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207190

rs_757070178

3 SubmittersRCV000489290 RCV000764390 RCV000700081

NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)

SNV
Germline

Chr2:240797716

Pathogenic/Likely pathogenic

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
See cases
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
KIF1A related neurological disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA351315932

rs_1064794935

7 SubmittersRCV000489169 RCV001057550 RCV001568399 RCV003224875 RCV001250737 RCV004787796

NM_014846.4(WASHC5):c.2888A>G (p.Asn963Ser)

SNV
Germline

Chr8:125039861

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4873397

rs_748167994

2 SubmittersRCV000489354 RCV001848858

NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)

SNV
Germline

Chr9:128566795

Conflicting classifications of pathogenicity

Condition: not provided
Early infantile epileptic encephalopathy with suppression bursts
SPTAN1-related disorder
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA375049451

rs_748232676

9 SubmittersRCV000489427 RCV002523419 RCV003387859 RCV003335376 RCV004787798

NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)

SNV
Germline

Chr16:89532543

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

CA397420893

rs_745444834

5 SubmittersRCV000490105 RCV001643206 RCV004800424

NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)

SNV
Germline

Chr2:240775895

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A related neurological disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA351297780

rs_1131690804

11 SubmittersRCV000492064 RCV000523291 RCV001848859 RCV001391606 RCV001202708 RCV004787802

NM_014946.4(SPAST):c.1170G>A (p.Met390Ile)

SNV
Germline

Chr2:32127019

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4
SPAST-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346501341

rs_1131691971

3 SubmittersRCV000494283 RCV001364718 RCV004730958

NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro)

SNV
Germline

Chr2:32154407

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346505587

rs_1131691972

3 SubmittersRCV000493133 RCV002289681

NM_006567.5(FARS2):c.1256G>A (p.Arg419His)

SNV
Germline

Chr6:5771329

Pathogenic/Likely pathogenic

Condition: not provided
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA3623926

rs_202183509

5 SubmittersRCV000493622 RCV001250393 RCV002509414 RCV003156098

NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter)

SNV
Germline

Chr7:100105533

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 50

Criteria Provided
Multiple Submitters
No Conflicts

CA368473062

rs_1131691556

2 SubmittersRCV000493866 RCV003114618

NM_025137.4(SPG11):c.3292-1G>T

SNV
Germline

Chr15:44608606

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535005

rs_201217015

4 SubmittersRCV000494617 RCV002323853 RCV001856963 RCV002282175

NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro)

SNV
Germline

Chr12:57569047

Likely pathogenic

Hereditary spastic paraplegia 10

No Assertion Criteria Provided

CA385500267

rs_1131692233

1 SubmittersRCV000495879

NM_000533.5(PLP1):c.365A>G (p.Lys122Arg)

SNV
Germline

ChrX:103786638

Likely pathogenic

Hereditary spastic paraplegia 2

No Assertion Criteria Provided

CA414102780

rs_1135401759

1 SubmittersRCV000496178

NM_001244008.2(KIF1A):c.3646G>A (p.Ala1216Thr)

SNV
Germline

Chr2:240741372

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207710

rs_368057315

3 SubmittersRCV000498449 RCV000814577 RCV004737566

NM_001244008.2(KIF1A):c.3010G>A (p.Val1004Ile)

SNV
Germline

Chr2:240747289

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207937

rs_763669401

4 SubmittersRCV000498394 RCV001252528 RCV001338181

NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu)

SNV
Germline

Chr2:240760840

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208136

rs_369410320

6 SubmittersRCV000639774 RCV000727144 RCV001848863 RCV004984919

NM_001244008.2(KIF1A):c.254C>A (p.Ala85Asp)

SNV
Germline

Chr2:240788160

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA351310589

rs_1553639041

2 SubmittersRCV000498662 RCV003766801

NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg)

SNV
Germline

Chr2:32126961

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501219

rs_1553316806

3 SubmittersRCV000497447 RCV000709816

NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)

SNV
Germline

Chr8:125078802

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
not specified

Criteria Provided
Conflicting Classifications

CA4874059

rs_72720524

6 SubmittersRCV000498521 RCV001086849 RCV001163828 RCV001662485

NM_025137.4(SPG11):c.796C>T (p.Gln266Ter)

SNV
Germline

Chr15:44657168

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392237268

rs_1234882277

3 SubmittersRCV000497842 RCV001223427

NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu)

SNV
Germline

Chr15:50948119

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
AP4E1-related disorder

Criteria Provided
Conflicting Classifications

CA7559023

rs_148817957

6 SubmittersRCV000498765 RCV000633021 RCV001722419 RCV001848861 RCV003902750

NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu)

SNV
Germline

Chr4:107932095

Likely pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

CA357833324

rs_761575210

1 SubmittersRCV000498760

NM_183075.3(CYP2U1):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr4:107945422

Pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

CA357837573

rs_1553937522

1 SubmittersRCV000497580

NM_001368809.2(AMPD2):c.1407+3A>G

SNV
Germline

Chr1:109628498

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
AMPD2-related disorder

Criteria Provided
Conflicting Classifications

CA993087

rs_41280332

6 SubmittersRCV000502839 RCV000513569 RCV001083524 RCV003932809

NM_001253852.3(AP4B1):c.338+5G>A

SNV
Germline

Chr1:113902633

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA28973775

rs_1019204290

2 SubmittersRCV000504025

NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met)

SNV
Germline

Chr2:240719128

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207177

rs_769279843

5 SubmittersRCV000504511 RCV000639776 RCV002266975 RCV002341186

NM_001244008.2(KIF1A):c.5017G>A (p.Val1673Ile)

SNV
Germline

Chr2:240719778

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207228

rs_774256831

2 SubmittersRCV000503596 RCV000639784

NM_001244008.2(KIF1A):c.4716C>T (p.His1572=)

SNV
Germline

Chr2:240721834

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207342

rs_375640417

3 SubmittersRCV000499558 RCV001392658 RCV002329198

NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His)

SNV
Germline

Chr2:240725310

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207461

rs_755301795

5 SubmittersRCV000503848 RCV000823472 RCV001334234 RCV002323866 RCV004737574

NM_001244008.2(KIF1A):c.4004A>G (p.Asp1335Gly)

SNV
Germline

Chr2:240737066

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207558

rs_747271930

4 SubmittersRCV000499482 RCV002376923 RCV004808738 RCV001042115

NM_001244008.2(KIF1A):c.3104C>T (p.Ser1035Leu)

SNV
Germline

Chr2:240746137

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207901

rs_764873243

3 SubmittersRCV000502828 RCV000556446 RCV002280122

NM_001244008.2(KIF1A):c.311C>T (p.Ser104Phe)

SNV
Germline

Chr2:240788103

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351310212

rs_1553639010

2 SubmittersRCV000499628 RCV001391596

NM_004722.4(AP4M1):c.544-6T>G

SNV
Germline

Chr7:100104086

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4374669

rs_372511561

5 SubmittersRCV000503528 RCV000647741 RCV002527195 RCV003441898

NM_015214.3(DDHD2):c.277T>C (p.Leu93=)

SNV
Germline

Chr8:38234450

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 54
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4715924

rs_544728429

3 SubmittersRCV000500790 RCV000866048 RCV003437232

NM_015214.3(DDHD2):c.699C>T (p.Ser233=)

SNV
Germline

Chr8:38240351

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 54

Criteria Provided
Conflicting Classifications

CA4716062

rs_560050475

2 SubmittersRCV000502899 RCV002527233

NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)

SNV
Germline

Chr13:23338976

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911327

rs_143961484

6 SubmittersRCV000503684 RCV000551798 RCV000765124 RCV001848875

NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)

SNV
Germline

Chr16:89531949

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA397419954

rs_368373840

5 SubmittersRCV000501596 RCV001662499 RCV003235255

NM_000533.5(PLP1):c.696+8G>T

SNV
Germline

ChrX:103788518

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334001302

rs_902326390

4 SubmittersRCV000500115 RCV001450144 RCV001573638

NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)

SNV
Germline

ChrX:153868067

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10554306

rs_199888009

4 SubmittersRCV000500394 RCV001517300 RCV001848871 RCV002413377

NM_020944.3(GBA2):c.786+9C>A

SNV
Germline

Chr9:35741663

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050624

rs_374309697

4 SubmittersRCV000500837 RCV000614875 RCV000862733

NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)

SNV
Germline

Chr16:74714197

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 35
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170303

rs_141854925

5 SubmittersRCV000513492 RCV000541410 RCV001117253 RCV001848878

NM_001199753.2(CPT1C):c.855C>T (p.Arg285=)

SNV
Germline

Chr19:49705090

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 73

Criteria Provided
Conflicting Classifications

CA9581980

rs_140099471

2 SubmittersRCV000512647 RCV001521028

NM_001244008.2(KIF1A):c.4208G>A (p.Arg1403His)

SNV
Germline

Chr2:240725319

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207465

rs_537708830

3 SubmittersRCV000513173 RCV000805967

NM_001244008.2(KIF1A):c.1651G>A (p.Val551Ile)

SNV
Germline

Chr2:240766948

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208324

rs_373891682

3 SubmittersRCV000703923 RCV000512977

NM_020944.3(GBA2):c.1688-8T>C

SNV
Germline

Chr9:35739117

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050309

rs_754147042

3 SubmittersRCV000513107 RCV001078835 RCV001848879

NM_001371279.1(REEP1):c.198T>C (p.Tyr66=)

SNV
Germline

Chr2:86254799

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA427281256

rs_1444613668

3 SubmittersRCV000514797 RCV001857859 RCV002420295

NM_006612.6(KIF1C):c.1165+4G>A

SNV
Germline

Chr17:5005004

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318879

rs_192489748

5 SubmittersRCV000514056 RCV001080394 RCV001848880

NM_001244008.2(KIF1A):c.1684+17G>A

SNV
Germline

Chr2:240766898

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2208316

rs_574718771

2 SubmittersRCV000514804 RCV002060217

NM_001166114.2(PNPLA6):c.3816+1G>A

SNV
Germline

Chr19:7560765

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Multiple Submitters
No Conflicts

CA403138038

rs_1490826010

2 SubmittersRCV000514941 RCV000554262

NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)

SNV
Germline

Chr2:240719840

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
History of neurodevelopmental disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207239

rs_376658420

8 SubmittersRCV000517273 RCV000639790 RCV000718224 RCV000764391

NM_001244008.2(KIF1A):c.4555G>A (p.Glu1519Lys)

SNV
Germline

Chr2:240722566

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207388

rs_769965899

2 SubmittersRCV000518018 RCV003766929

NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu)

SNV
Germline

Chr2:240741338

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207702

rs_374244985

7 SubmittersRCV000530899 RCV000764394 RCV001143455 RCV001544962 RCV002455993

NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=)

SNV
Germline

Chr2:240762747

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2208204

rs_758111969

5 SubmittersRCV000517336 RCV000767168 RCV001083254 RCV001848888 RCV004737586

NM_014946.4(SPAST):c.734C>G (p.Ser245Ter)

SNV
Germline

Chr2:32114689

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498423

rs_1553314896

3 SubmittersRCV000516292 RCV000535751

NM_014946.4(SPAST):c.782C>A (p.Ser261Ter)

SNV
Germline

Chr2:32114737

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498584

rs_768241184

2 SubmittersRCV000517216 RCV003522985

NM_014946.4(SPAST):c.832G>A (p.Val278Met)

SNV
Germline

Chr2:32114787

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1600714

rs_369908571

5 SubmittersRCV000518464 RCV000764403 RCV001848906 RCV002525084

NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)

SNV
Germline

Chr2:32114793

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498808

rs_1553314948

4 SubmittersRCV000516709 RCV000821011

NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser)

SNV
Germline

Chr2:32126965

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346501226

rs_1425976342

2 SubmittersRCV000644904 RCV002473041

NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)

SNV
Germline

Chr2:32128430

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501410

rs_1553317025

11 SubmittersRCV000516537 RCV000686298

NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)

SNV
Germline

Chr2:32136593

Pathogenic/Likely pathogenic

Pes valgus
Spasticity
Flexion contracture
Spastic diplegia
Tip-toe gait
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502047

rs_1060502227

7 SubmittersRCV000626922 RCV000644897 RCV003482273

NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)

SNV
Germline

Chr2:32137145

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346502457

rs_1553318317

4 SubmittersRCV000517007 RCV001216975 RCV002281101

NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)

SNV
Germline

Chr2:32145004

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA346504288

rs_121908518

10 SubmittersRCV000517099 RCV000644889 RCV001848905

NM_014946.4(SPAST):c.1730T>G (p.Met577Arg)

SNV
Germline

Chr2:32154375

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346505502

rs_1553321196

3 SubmittersRCV000517986 RCV000700492

NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)

SNV
Germline

Chr7:4781259

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137053

rs_146682319

4 SubmittersRCV000516731 RCV000862691 RCV001821449

NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val)

SNV
Germline

Chr7:4788845

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137936

rs_764332870

5 SubmittersRCV000517661 RCV001770391 RCV001851423 RCV002525019

NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)

SNV
Germline

Chr9:132327165

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297202

rs_143661911

10 SubmittersRCV000518326 RCV000550269 RCV001165737 RCV001167321 RCV001644615 RCV001848902 RCV002329225 RCV004537862

NM_015046.7(SETX):c.1392A>G (p.Ser464=)

SNV
Germline

Chr9:132330206

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297784

rs_144164119

5 SubmittersRCV000517536 RCV001463467 RCV001848899 RCV002395236 RCV004732919

NM_015046.7(SETX):c.654G>C (p.Lys218Asn)

SNV
Germline

Chr9:132336360

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297991

rs_117861188

11 SubmittersRCV000516905 RCV000535102 RCV001166018 RCV001166019 RCV001311799 RCV001848903 RCV002367720 RCV004541619

NM_014363.6(SACS):c.8972G>A (p.Arg2991His)

SNV
Germline

Chr13:23334904

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910684

rs_192610957

6 SubmittersRCV000518535 RCV000765119 RCV001085517 RCV001644612 RCV001848898

NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)

SNV
Germline

Chr13:23337540

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911101

rs_80132141

5 SubmittersRCV000517696 RCV001111736 RCV001080771 RCV001848895

NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)

SNV
Germline

Chr13:23337825

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911147

rs_35865691

6 SubmittersRCV000516670 RCV001082654 RCV001112183 RCV001848894 RCV005000085

NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)

SNV
Germline

Chr13:23340950

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911590

rs_139993038

9 SubmittersRCV000516574 RCV001109615 RCV001081341 RCV001644611 RCV001848892 RCV003905307

NM_014363.6(SACS):c.2602A>G (p.Ile868Val)

SNV
Germline

Chr13:23341274

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911659

rs_142284018

7 SubmittersRCV000518481 RCV000820462 RCV001111916 RCV001848891 RCV002525072

NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)

SNV
Germline

Chr13:23354727

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911833

rs_149638449

8 SubmittersRCV000518207 RCV001083870 RCV001113726 RCV001848890 RCV002525071 RCV004748801

NM_014363.6(SACS):c.810T>G (p.Phe270Leu)

SNV
Germline

Chr13:23355802

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6912021

rs_116907814

9 SubmittersRCV000517365 RCV000728923 RCV001085212 RCV001112465 RCV001848897 RCV003962434

NM_015915.5(ATL1):c.481G>T (p.Ala161Ser)

SNV
Germline

Chr14:50591598

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389667492

rs_1555363969

2 SubmittersRCV000517609 RCV000802695

NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg)

SNV
Germline

Chr14:50628139

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA389675812

rs_1555365854

3 SubmittersRCV000516661 RCV002527456

NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=)

SNV
Germline

Chr14:67786202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240084

rs_138895639

6 SubmittersRCV000516415 RCV000710228 RCV001085997 RCV001121757 RCV001848909

NM_144599.5(NIPA1):c.17C>G (p.Ala6Gly)

SNV
Germline

Chr15:22786673

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA267581019

rs_944860201

2 SubmittersRCV000517000 RCV002527497

NM_144599.5(NIPA1):c.315C>T (p.Phe105=)

SNV
Germline

Chr15:22812251

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA7426135

rs_373273269

2 SubmittersRCV000517764 RCV001408583

NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)

SNV
Germline

Chr15:44563292

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7533860

rs_201918221

5 SubmittersRCV000518466 RCV000540747 RCV001584232 RCV002376955

NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)

SNV
Germline

Chr15:44608461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534984

rs_114945876

6 SubmittersRCV000517057 RCV000840197 RCV001084485 RCV002455996

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

Criteria Provided
Conflicting Classifications

CA7535442

rs_763060505

3 SubmittersRCV000517770 RCV001851462 RCV002467849 RCV002467850

NM_024306.5(FA2H):c.925G>A (p.Val309Ile)

SNV
Germline

Chr16:74716461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170349

rs_150427439

8 SubmittersRCV000518709 RCV001310336 RCV000633034 RCV001848887

NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu)

SNV
Germline

Chr19:7561537

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140701

rs_116012798

3 SubmittersRCV000518428 RCV000861262 RCV004537858

NM_001244008.2(KIF1A):c.4544C>T (p.Pro1515Leu)

SNV
Germline

Chr2:240722577

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA68137691

rs_867230401

3 SubmittersRCV000522204 RCV000639770

NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn)

SNV
Germline

Chr2:240737142

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207576

rs_371252476

5 SubmittersRCV000523796 RCV001087401 RCV002314914 RCV004541632

NM_001244008.2(KIF1A):c.3886C>G (p.Arg1296Gly)

SNV
Germline

Chr2:240740073

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207608

rs_201684653

4 SubmittersRCV000520239 RCV002358411 RCV000639801

NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr)

SNV
Germline

Chr2:240786491

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351307022

rs_1553638655

3 SubmittersRCV000522046 RCV001051953 RCV001775130

NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn)

SNV
Germline

Chr2:32127013

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346501330

rs_1553316838

2 SubmittersRCV000528465 RCV000521931

NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)

SNV
Germline

Chr7:100105982

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 50
not specified

Criteria Provided
Conflicting Classifications

CA4374881

rs_531148057

5 SubmittersRCV000519004 RCV000765978 RCV004017662

NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter)

SNV
Germline

Chr8:38245878

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA4716128

rs_201258800

4 SubmittersRCV000519521 RCV000650277

NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)

SNV
Germline

Chr14:50590969

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA7180212

rs_377736535

5 SubmittersRCV000522762 RCV000536617

NM_015915.5(ATL1):c.587A>G (p.Tyr196Cys)

SNV
Germline

Chr14:50595589

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389668858

rs_1555364246

2 SubmittersRCV000520465 RCV001320969

NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu)

SNV
Germline

Chr14:50628115

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA389675711

rs_1555365850

2 SubmittersRCV000520804 RCV002248755

NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)

SNV
Germline

Chr16:74774626

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA396768354

rs_1268722908

2 SubmittersRCV000520744 RCV003155224

NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)

SNV
Germline

Chr16:89553130

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397432955

rs_758702550

3 SubmittersRCV000520300 RCV001066395

NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)

SNV
Germline

Chr17:5007273

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318947

rs_142046798

7 SubmittersRCV000521926 RCV001321550 RCV001848914

NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)

SNV
Germline

Chr17:5023759

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8319435

rs_550136320

7 SubmittersRCV000523662 RCV001350123 RCV001848915

NM_024989.4(PGAP1):c.1876T>C (p.Tyr626His)

SNV
Germline

Chr2:196848023

Conflicting classifications of pathogenicity

Intellectual disability, autosomal recessive 42
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2040760

rs_150893861

2 SubmittersRCV000560352 RCV001848971

NM_001244008.2(KIF1A):c.5086C>T (p.Arg1696Cys)

SNV
Germline

Chr2:240719134

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351298557

rs_772521110

3 SubmittersRCV000551400 RCV002341322 RCV004546516

NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His)

SNV
Germline

Chr2:240719810

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207234

rs_199557318

6 SubmittersRCV000545939 RCV001509203 RCV004787884

NM_001244008.2(KIF1A):c.3905G>A (p.Arg1302His)

SNV
Germline

Chr2:240737165

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207584

rs_376697478

2 SubmittersRCV000550664 RCV001799678

NM_001244008.2(KIF1A):c.405C>T (p.Asn135=)

SNV
Germline

Chr2:240787275

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2208797

rs_151212200

3 SubmittersRCV000534886 RCV002323966 RCV001141869

NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys)

SNV
Germline

Chr2:240722509

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207376

rs_200184619

6 SubmittersRCV000554693 RCV001136789 RCV001848938 RCV001697024 RCV004541685

NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=)

SNV
Germline

Chr2:240723503

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207412

rs_375309925

5 SubmittersRCV000542782 RCV001662551 RCV002314980 RCV004537967

NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr)

SNV
Germline

Chr2:240744039

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
History of neurodevelopmental disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207782

rs_527346259

4 SubmittersRCV000525465 RCV000717402 RCV003133312

NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)

SNV
Germline

Chr2:240783764

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA351303022

rs_1553638086

13 SubmittersRCV001266365 RCV000548642 RCV001770432 RCV001268098 RCV001251233 RCV001848939 RCV002289760

NM_001244008.2(KIF1A):c.327C>A (p.Gly109=)

SNV
Germline

Chr2:240788087

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2208834

rs_776064107

3 SubmittersRCV000555202 RCV002323965 RCV001141870

NM_014946.4(SPAST):c.1494-2A>C

SNV
Germline

Chr2:32141902

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502809

rs_1218081251

2 SubmittersRCV000544533 RCV000713466

NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)

SNV
Germline

Chr2:240719065

Conflicting classifications of pathogenicity

History of neurodevelopmental disorder
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207162

rs_200511467

7 SubmittersRCV000719407 RCV000757422 RCV001088413 RCV001141523 RCV004541687

NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=)

SNV
Germline

Chr2:240725321

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207466

rs_201656750

6 SubmittersRCV000533085 RCV001139024 RCV001546769 RCV001662550 RCV002358498

NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu)

SNV
Germline

Chr2:240742970

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207739

rs_763750448

3 SubmittersRCV000539405 RCV000712147

NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro)

SNV
Germline

Chr2:240745841

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207853

rs_779093187

4 SubmittersRCV000559143 RCV000764396 RCV001002006 RCV002448687

NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys)

SNV
Germline

Chr2:240758463

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

CA2208089

rs_376012799

4 SubmittersRCV001509205 RCV000554679 RCV003403290

NM_001244008.2(KIF1A):c.2100G>A (p.Glu700=)

SNV
Germline

Chr2:240762735

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208201

rs_374701055

4 SubmittersRCV000558590 RCV002292561 RCV001143562 RCV002420422

NM_001244008.2(KIF1A):c.4171G>A (p.Val1391Ile)

SNV
Germline

Chr2:240725356

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207471

rs_373900978

2 SubmittersRCV000552521 RCV003222024

NM_001244008.2(KIF1A):c.2480G>A (p.Arg827His)

SNV
Germline

Chr2:240758462

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2208088

rs_768899178

2 SubmittersRCV000528565 RCV001848937

NM_014946.4(SPAST):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr2:32087497

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346603062

rs_1485703744

1 SubmittersRCV000537576

NM_014946.4(SPAST):c.870G>A (p.Lys290=)

SNV
Germline

Chr2:32114825

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA425445560

rs_1421791559

2 SubmittersRCV000548239 RCV004719866

NM_014946.4(SPAST):c.1196C>G (p.Ser399Trp)

SNV
Germline

Chr2:32128430

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501409

rs_1553317025

1 SubmittersRCV000536355

NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp)

SNV
Germline

Chr2:32136967

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502364

rs_1553318274

1 SubmittersRCV000526604

NM_014946.4(SPAST):c.1413+5G>C

SNV
Germline

Chr2:32136973

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA658657026

rs_1553318282

1 SubmittersRCV000539043

NM_014946.4(SPAST):c.1494-1G>C

SNV
Germline

Chr2:32141903

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502813

rs_1315245986

1 SubmittersRCV000532382

NM_014946.4(SPAST):c.1616+1G>C

SNV
Germline

Chr2:32143416

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346503866

rs_1553319327

1 SubmittersRCV000544321

NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu)

SNV
Germline

Chr2:86232702

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
not specified
Inborn genetic diseases
REEP1-related disorder

Criteria Provided
Conflicting Classifications

CA1748695

rs_777245164

4 SubmittersRCV000531522 RCV000611545 RCV002341332 RCV003892136

NM_006070.6(TFG):c.988A>G (p.Thr330Ala)

SNV
Germline

Chr3:100748316

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2517240

rs_145835282

3 SubmittersRCV000554884 RCV001755843 RCV002384150

NM_006567.5(FARS2):c.497C>T (p.Ala166Val)

SNV
Germline

Chr6:5369067

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3623658

rs_538791135

4 SubmittersRCV000546306 RCV002483484 RCV003222035

NM_004722.4(AP4M1):c.58+2T>G

SNV
Germline

Chr7:100101774

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

CA368462633

rs_1554377262

1 SubmittersRCV000534458

NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser)

SNV
Germline

Chr7:100105461

Likely pathogenic

Hereditary spastic paraplegia 50
Spastic paraplegia

Criteria Provided
Single Submitter

CA368472432

rs_1554380391

2 SubmittersRCV000549259 RCV001849402

NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)

SNV
Germline

Chr7:4789897

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4138019

rs_372922535

4 SubmittersRCV000546622 RCV001848975 RCV002512115

NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=)

SNV
Germline

Chr8:125032366

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA4873277

rs_200733182

2 SubmittersRCV000554231 RCV001163430

NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)

SNV
Germline

Chr8:125057660

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA372191456

rs_1554593901

4 SubmittersRCV000555090 RCV000825002 RCV001542471

NM_014846.4(WASHC5):c.885G>A (p.Gly295=)

SNV
Germline

Chr8:125075091

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA462771684

rs_1435894101

3 SubmittersRCV000543292 RCV001163530 RCV002527774

NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)

SNV
Germline

Chr9:132329119

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
See cases
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297587

rs_150532677

15 SubmittersRCV000540061 RCV000762582 RCV001000648 RCV001167462 RCV001167461 RCV001848950 RCV002252164 RCV002456164 RCV004538008

NM_015046.7(SETX):c.7100+9T>C

SNV
Germline

Chr9:132275247

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296516

rs_200088320

5 SubmittersRCV000713230 RCV001087251 RCV001165603 RCV001165604 RCV001848955 RCV004541718

NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)

SNV
Germline

Chr9:132326616

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297098

rs_146873848

12 SubmittersRCV000558440 RCV000859806 RCV001644653 RCV001848953 RCV002341378 RCV004538011

NM_015046.7(SETX):c.192A>G (p.Leu64=)

SNV
Germline

Chr9:132346457

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5298104

rs_117326462

8 SubmittersRCV000556642 RCV001167591 RCV001167592 RCV001287950 RCV001558290 RCV001848949 RCV002413561

NM_020944.3(GBA2):c.2201G>A (p.Arg734His)

SNV
Germline

Chr9:35738149

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided
GBA2-related disorder

Criteria Provided
Conflicting Classifications

CA5050161

rs_142621039

5 SubmittersRCV000526854 RCV001848928 RCV001591201 RCV003925598

NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)

SNV
Germline

Chr10:95637100

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620586

rs_201428777

6 SubmittersRCV001848936 RCV003424107 RCV002526112 RCV003766998

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
Single Submitter

CA380968385

rs_137852973

5 SubmittersRCV000536990 RCV000789082 RCV001270682 RCV002284966 RCV003311850

NM_014363.6(SACS):c.12813T>G (p.Pro4271=)

SNV
Germline

Chr13:23331063

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910078

rs_146376949

11 SubmittersRCV000712961 RCV001081835 RCV001114727 RCV001529134 RCV001848920 RCV003905340

NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)

SNV
Germline

Chr13:23339132

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387527870

rs_1160357920

9 SubmittersRCV000536906 RCV000578242 RCV001848923

NM_014363.6(SACS):c.9399A>G (p.Lys3133=)

SNV
Germline

Chr13:23334477

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910625

rs_762665640

4 SubmittersRCV000546063 RCV001274923 RCV001848925 RCV003403262

NM_014363.6(SACS):c.2551G>T (p.Val851Phe)

SNV
Germline

Chr13:23341325

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911670

rs_756890722

4 SubmittersRCV000545527 RCV001834757 RCV001848921 RCV005000138

NM_015915.5(ATL1):c.1057G>A (p.Glu353Lys)

SNV
Germline

Chr14:50623186

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389674117

rs_1555365595

1 SubmittersRCV000556273

NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)

SNV
Germline

Chr14:53054467

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
DDHD1-related disorder

Criteria Provided
Conflicting Classifications

CA7191004

rs_144016130

6 SubmittersRCV000556458 RCV001509454 RCV001848940 RCV002530055 RCV003925642

NM_015346.4(ZFYVE26):c.6918A>T (p.Thr2306=)

SNV
Germline

Chr14:67755119

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7239112

rs_146227863

2 SubmittersRCV000532359 RCV001119564

NM_014363.6(SACS):c.3282C>T (p.Asn1094=)

SNV
Germline

Chr13:23340594

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911545

rs_145499245

4 SubmittersRCV000537247 RCV001109612 RCV001848922

NM_015915.5(ATL1):c.594A>C (p.Arg198Ser)

SNV
Germline

Chr14:50595596

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389668888

rs_1555364247

1 SubmittersRCV000536383

NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)

SNV
Germline

Chr14:102414778

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
TECPR2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7357479

rs_144870163

4 SubmittersRCV000548770 RCV003915605 RCV004777733

NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp)

SNV
Germline

Chr15:44615527

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535113

rs_140164220

3 SubmittersRCV000528211 RCV002438391 RCV003238770

NM_025137.4(SPG11):c.1605C>T (p.Ala535=)

SNV
Germline

Chr15:44633635

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7535491

rs_117683234

6 SubmittersRCV000556381 RCV000612979 RCV001696993 RCV003960331

NM_025137.4(SPG11):c.782C>A (p.Ser261Ter)

SNV
Germline

Chr15:44657182

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535724

rs_765477482

2 SubmittersRCV000541697

NM_025137.4(SPG11):c.667+5C>T

SNV
Germline

Chr15:44659074

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7535775

rs_375485062

4 SubmittersRCV000552048 RCV000591526 RCV003155231

NM_025137.4(SPG11):c.42C>A (p.Gly14=)

SNV
Germline

Chr15:44663606

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535969

rs_376542524

2 SubmittersRCV001504440 RCV001848944

NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)

SNV
Germline

Chr14:67783020

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390170778

rs_774809466

3 SubmittersRCV000547814 RCV000671739

NM_015346.4(ZFYVE26):c.951C>T (p.Ala317=)

SNV
Germline

Chr14:67806611

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240656

rs_142029189

2 SubmittersRCV000545743 RCV001848926

NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)

SNV
Germline

Chr15:89316804

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
6 conditions
Condition: not provided
Hereditary spastic paraplegia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724040

rs_148786642

8 SubmittersRCV000548544 RCV000765232 RCV001591204 RCV001848933 RCV003479152 RCV004659089

NM_002693.3(POLG):c.1872G>A (p.Val624=)

SNV
Germline

Chr15:89325527

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA492289266

rs_765506021

3 SubmittersRCV000545151 RCV000609746 RCV001848932

NM_025137.4(SPG11):c.4755A>C (p.Ala1585=)

SNV
Germline

Chr15:44589403

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534584

rs_144951661

5 SubmittersRCV000538275 RCV002341339 RCV003456411 RCV003900180

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.2737C>T (p.Gln913Ter)

SNV
Germline

Chr15:44620287

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392230734

rs_1555455246

1 SubmittersRCV000539735

NM_025137.4(SPG11):c.2621-5T>C

SNV
Germline

Chr15:44620408

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA618006225

rs_1331589550

2 SubmittersRCV000527285 RCV002438389

NM_025137.4(SPG11):c.437A>G (p.Asp146Gly)

SNV
Germline

Chr15:44660437

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7535844

rs_182535774

3 SubmittersRCV000548900 RCV003962530

NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)

SNV
Germline

Chr15:44564548

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392212219

rs_1555446078

2 SubmittersRCV000535276

NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)

SNV
Germline

Chr15:44584365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534430

rs_150823040

7 SubmittersRCV000541207 RCV001848946 RCV002467874 RCV002509426 RCV002467875 RCV003372748

NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn)

SNV
Germline

Chr15:44596256

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

Criteria Provided
Conflicting Classifications

CA7534720

rs_191148548

5 SubmittersRCV000556968 RCV002330887 RCV002263778 RCV002467868 RCV002467869 RCV004796233

NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter)

SNV
Germline

Chr15:44589368

Pathogenic

Hereditary spastic paraplegia 11
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7534580

rs_753920931

5 SubmittersRCV000550739 RCV002341340 RCV004689788

NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)

SNV
Germline

Chr15:44595303

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392226101

rs_1362530862

1 SubmittersRCV000549837

NM_015161.3(ARL6IP1):c.409-2A>G

SNV
Germline

Chr16:18794685

Likely pathogenic

Hereditary spastic paraplegia 61

Criteria Provided
Single Submitter

CA7929457

rs_767874638

1 SubmittersRCV000544624

NM_003119.4(SPG7):c.1937-2A>G

SNV
Germline

Chr16:89553792

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8244494

rs_568556987

2 SubmittersRCV000554743 RCV005000165

NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly)

SNV
Germline

Chr17:5004971

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318875

rs_79290524

3 SubmittersRCV000553957 RCV001848958 RCV002292564

NM_006612.6(KIF1C):c.18G>A (p.Val6=)

SNV
Germline

Chr17:5000264

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8318421

rs_148361794

4 SubmittersRCV000827041 RCV001848960 RCV001078969

NM_001166114.2(PNPLA6):c.492C>T (p.Thr164=)

SNV
Germline

Chr19:7539996

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139475

rs_778359563

3 SubmittersRCV000538723 RCV001848964 RCV003424123

NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=)

SNV
Germline

Chr19:7535959

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139349

rs_140825810

2 SubmittersRCV000531786 RCV000598138

NM_001199753.2(CPT1C):c.2092A>G (p.Asn698Asp)

SNV
Germline

Chr19:49712808

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9582408

rs_143091111

3 SubmittersRCV000542129 RCV004791569

NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter)

SNV
Germline

Chr19:7558955

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403134838

rs_1555751597

1 SubmittersRCV000539525

NM_006567.5(FARS2):c.461C>T (p.Ala154Val)

SNV
Germline

Chr6:5369031

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14

Criteria Provided
Conflicting Classifications

CA3623648

rs_749588235

4 SubmittersRCV000578201 RCV001246829

NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)

SNV
Germline

Chr16:74774654

Pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA283770055

rs_957683798

1 SubmittersRCV000578281

NM_000533.5(PLP1):c.817C>T (p.Arg273Ter)

SNV
Germline

ChrX:103790581

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 2
PLP1-related disorder
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA414105056

rs_1556273167

3 SubmittersRCV000578343 RCV004730983 RCV004796239

NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)

SNV
Germline

Chr2:32127018

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501338

rs_1131691977

1 SubmittersRCV000578366

NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)

SNV
Germline

Chr2:32137179

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502534

rs_1553318347

3 SubmittersRCV000578417

NM_014946.4(SPAST):c.1536G>A (p.Glu512=)

SNV
Germline

Chr2:32141946

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425451338

rs_1553319093

3 SubmittersRCV000578771 RCV000806003 RCV004817777

NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)

SNV
Germline

Chr8:64596809

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA178383085

rs_769676029

3 SubmittersRCV000578856 RCV001391411 RCV003767256

NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr8:64624475

Pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 5A
CYP7B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4764275

rs_746979262

4 SubmittersRCV000579004 RCV000800946 RCV003993670 RCV004742515

NM_015046.7(SETX):c.5949+5G>A

SNV
Germline

Chr9:132296882

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296870

rs_374656811

10 SubmittersRCV000644836 RCV000713224 RCV001169651 RCV001165667 RCV001706679 RCV001848978 RCV002358638 RCV004530626

NM_015346.4(ZFYVE26):c.2554-1G>C

SNV
Germline

Chr14:67790774

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7240229

rs_760559263

5 SubmittersRCV000578746 RCV000665774 RCV001853838

NM_025137.4(SPG11):c.3039-5T>G

SNV
Germline

Chr15:44613541

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535074

rs_763224175

4 SubmittersRCV000578846 RCV001391555 RCV003330809

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
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
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_003119.4(SPG7):c.1369C>T (p.Arg457Ter)

SNV
Germline

Chr16:89544692

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8244158

rs_138671904

5 SubmittersRCV000579008 RCV001391430

NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)

SNV
Germline

Chr2:32154430

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346505640

rs_145206063

5 SubmittersRCV000585458 RCV003233753

NM_001244008.2(KIF1A):c.420C>T (p.Tyr140=)

SNV
Germline

Chr2:240787260

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA432025947

rs_1300729090

3 SubmittersRCV000585208 RCV002530852 RCV002331000

NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)

SNV
Germline

Chr8:125057659

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372191452

rs_1554593899

3 SubmittersRCV000585718 RCV001069360 RCV001268029

NM_001166114.2(PNPLA6):c.1290C>T (p.Ala430=)

SNV
Germline

Chr19:7542598

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA505403529

rs_763990023

2 SubmittersRCV000597043 RCV003617848

NM_001776.6(ENTPD1):c.1479C>G (p.Ile493Met)

SNV
Germline

Chr10:95866329

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 64
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5621667

rs_146889178

3 SubmittersRCV000595576 RCV001484653 RCV001848982

NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln)

SNV
Germline

Chr2:240719780

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207229

rs_761974755

6 SubmittersRCV000596825 RCV000639794 RCV002341520

NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=)

SNV
Germline

Chr2:240722567

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207389

rs_775395101

5 SubmittersRCV000597021 RCV001854048 RCV002341524 RCV004737868

NM_002693.3(POLG):c.522C>G (p.Gly174=)

SNV
Germline

Chr15:89333233

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725103

rs_766842881

5 SubmittersRCV000598054 RCV001848983 RCV002341525 RCV002532480 RCV003985799

NM_152415.3(VPS37A):c.99C>A (p.Ile33=)

SNV
Germline

Chr8:17247343

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 53

Criteria Provided
Conflicting Classifications

CA4643099

rs_373895020

2 SubmittersRCV000594079 RCV001479000

NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser)

SNV
Germline

Chr8:64798494

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 5A
Spastic paraplegia
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

CA4764306

rs_181854355

5 SubmittersRCV000592567 RCV001163460 RCV001510265 RCV004742528

NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)

SNV
Germline

Chr14:67752398

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239008

rs_147321202

3 SubmittersRCV000597001 RCV001118024 RCV001405020

NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)

SNV
Germline

Chr8:64798498

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 5A
not specified
Spastic paraplegia
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

CA179061869

rs_571177831

5 SubmittersRCV000597899 RCV001163747 RCV001644701 RCV002062103 RCV003953003

NM_001244008.2(KIF1A):c.2582+7G>A

SNV
Germline

Chr2:240758353

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2208067

rs_781439626

4 SubmittersRCV000608170 RCV000639853 RCV001848995 RCV004544763

NM_014946.4(SPAST):c.1617-3C>T

SNV
Germline

Chr2:32144934

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600972

rs_201212542

3 SubmittersRCV001698451 RCV001848998 RCV001868071

NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=)

SNV
Germline

Chr8:38252245

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4716298

rs_139004425

3 SubmittersRCV000650284 RCV001722591 RCV001848985

NM_001122955.4(BSCL2):c.1234+7G>A

SNV
Germline

Chr11:62690605

Conflicting classifications of pathogenicity

not specified
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Charcot-Marie-Tooth disease type 2
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6053286

rs_200631909

5 SubmittersRCV000604138 RCV001105808 RCV001105807 RCV001421953 RCV002227188 RCV001848989

NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)

SNV
Germline

Chr14:102434287

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7357739

rs_149584733

4 SubmittersRCV000606857 RCV000862492 RCV001848992

NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=)

SNV
Germline

Chr12:57581135

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653182

rs_147057295

4 SubmittersRCV001397862 RCV001113506 RCV001707753 RCV001848987

NM_015346.4(ZFYVE26):c.684C>T (p.Pro228=)

SNV
Germline

Chr14:67807600

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7240730

rs_369761894

3 SubmittersRCV000607718 RCV000866811 RCV001118448

NM_025137.4(SPG11):c.257+15A>C

SNV
Germline

Chr15:44663376

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535915

rs_538988623

3 SubmittersRCV000599711 RCV001117513

NM_014844.5(TECPR2):c.606T>C (p.Ser202=)

SNV
Germline

Chr14:102414761

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7357475

rs_140791062

5 SubmittersRCV000610616 RCV000862126 RCV001848988 RCV004808795

NM_144599.5(NIPA1):c.798C>T (p.Val266=)

SNV
Germline

Chr15:22824047

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA267606531

rs_1008907564

3 SubmittersRCV000600132 RCV001848997 RCV002528617

NM_003119.4(SPG7):c.516C>T (p.His172=)

SNV
Germline

Chr16:89524145

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243662

rs_141065708

3 SubmittersRCV000607127 RCV001848991 RCV002529628

NM_001166114.2(PNPLA6):c.3914-11C>T

SNV
Germline

Chr19:7561197

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140641

rs_371325894

3 SubmittersRCV001129030 RCV001712633

NM_001166114.2(PNPLA6):c.232+14G>A

SNV
Germline

Chr19:7536034

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139372

rs_199727584

3 SubmittersRCV000608033 RCV001134321

NM_031448.6(C19orf12):c.177G>A (p.Gly59=)

SNV
Germline

Chr19:29702961

Conflicting classifications of pathogenicity

not specified
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9351922

rs_768063881

4 SubmittersRCV000602670 RCV001126322 RCV001457687 RCV003411449

NM_006702.5(PNPLA6):c.-43+3G>A

SNV
Germline

Chr19:7534905

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA304859127

rs_185247203

2 SubmittersRCV000605991 RCV001128694

NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)

SNV
Germline

Chr1:113901236

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 47
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1016061

rs_149705131

5 SubmittersRCV000623523 RCV002531883 RCV001849410 RCV004719904

NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His)

SNV
Germline

Chr2:240750497

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207986

rs_201742042

3 SubmittersRCV000623154 RCV000995793 RCV001069786

NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)

SNV
Germline

Chr2:240783109

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA351302716

rs_1553637932

2 SubmittersRCV000622710 RCV001860437

NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp)

SNV
Germline

Chr2:32137154

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346502475

rs_1553318323

2 SubmittersRCV000624733 RCV003523004

NM_000533.5(PLP1):c.2T>G (p.Met1Arg)

SNV
Germline

ChrX:103776997

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA414101585

rs_864622194

4 SubmittersRCV000624524 RCV001805225 RCV004595519

NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)

SNV
Germline

Chr13:23335297

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910745

rs_201294520

4 SubmittersRCV000625698 RCV001439415 RCV001848999

NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile)

SNV
Germline

Chr8:17276454

Conflicting classifications of pathogenicity

Idiopathic transverse myelitis
Hereditary spastic paraplegia 53
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4643409

rs_150912414

4 SubmittersRCV000625725 RCV000650274 RCV001528188

NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln)

SNV
Germline

Chr2:240758372

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351323373

rs_1195594601

5 SubmittersRCV000625782 RCV001855323 RCV003129946

NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)

SNV
Germline

Chr7:100106745

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50

Criteria Provided
Conflicting Classifications

CA4375034

rs_760907496

3 SubmittersRCV000625788

NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)

SNV
Germline

Chr1:228166129

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3
Multiple mitochondrial dysfunctions syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345106709

rs_1298056442

3 SubmittersRCV002529780 RCV000626148 RCV004721494

NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter)

SNV
Germline

Chr7:100105314

Pathogenic

Hereditary spastic paraplegia 50
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA4374799

rs_780030221

3 SubmittersRCV000626141 RCV001849421

NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)

SNV
Germline

Chr10:95606919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620102

rs_762271422

2 SubmittersRCV000626090 RCV003767836

NM_014946.4(SPAST):c.870+1G>A

SNV
Germline

Chr2:32114826

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498942

rs_1553314978

2 SubmittersRCV000626923 RCV000688305

NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr2:32116153

Pathogenic

Abnormal myelination
Fatigue
Seizure
Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346499670

rs_1553315329

5 SubmittersRCV000626921 RCV001090858 RCV001391497

NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)

SNV
Germline

Chr2:32064165

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346602318

rs_1553394603

3 SubmittersRCV000627250 RCV001243896

NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr13:23354940

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387547285

rs_923921184

4 SubmittersRCV000627327 RCV001065954 RCV001849000 RCV001785684

NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)

SNV
Germline

Chr1:113898739

Pathogenic

Hereditary spastic paraplegia 47
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA1015885

rs_374894037

6 SubmittersRCV000649277 RCV001849424

NM_001253852.3(AP4B1):c.898G>T (p.Val300Leu)

SNV
Germline

Chr1:113900120

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1015986

rs_111785152

2 SubmittersRCV000649279 RCV002311984

NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp)

SNV
Germline

Chr1:228166151

Conflicting classifications of pathogenicity

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1431107

rs_775646159

2 SubmittersRCV000651559 RCV003225108

NM_020919.4(ALS2):c.331G>A (p.Val111Ile)

SNV
Germline

Chr2:201761663

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058669

rs_61745503

4 SubmittersRCV001089250 RCV001137294 RCV001137295 RCV001644727 RCV001849016

NM_001244008.2(KIF1A):c.4257-6C>T

SNV
Germline

Chr2:240724042

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658796216

rs_1440735433

2 SubmittersRCV000639780 RCV001310787

NM_001244008.2(KIF1A):c.3509G>A (p.Ser1170Asn)

SNV
Germline

Chr2:240744017

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

CA2207780

rs_776451256

2 SubmittersRCV000639777 RCV003987636

NM_001244008.2(KIF1A):c.5334-4G>A

SNV
Germline

Chr2:240717410

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207090

rs_758806789

2 SubmittersRCV000639832 RCV002533244

NM_001244008.2(KIF1A):c.2403G>A (p.Gln801=)

SNV
Germline

Chr2:240760706

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208110

rs_770666285

3 SubmittersRCV000639830 RCV001141748 RCV002458045

NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu)

SNV
Germline

Chr2:240746147

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207904

rs_370378060

3 SubmittersRCV000639799 RCV002315961 RCV003133425

NM_001244008.2(KIF1A):c.1421+2T>A

SNV
Germline

Chr2:240769625

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351329743

rs_751051049

1 SubmittersRCV000639797

NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)

SNV
Germline

Chr2:240719886

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Inborn genetic diseases
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207251

rs_377032453

8 SubmittersRCV000639789 RCV000764393 RCV001143357 RCV001334235 RCV001811132 RCV002334103 RCV003338706

NM_001244008.2(KIF1A):c.4868+1G>C

SNV
Germline

Chr2:240720913

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351301390

rs_1553624714

1 SubmittersRCV000639772

NM_001244008.2(KIF1A):c.4120G>A (p.Glu1374Lys)

SNV
Germline

Chr2:240726828

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA68141126

rs_951775920

3 SubmittersRCV000639796 RCV002325243 RCV004720275

NM_001244008.2(KIF1A):c.3405C>T (p.Ser1135=)

SNV
Germline

Chr2:240745487

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207814

rs_374858877

3 SubmittersRCV000639822 RCV001143457 RCV004544847

NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg)

SNV
Germline

Chr2:240745878

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207860

rs_553976598

4 SubmittersRCV000639769 RCV001548564 RCV001836855 RCV002440272

NM_001244008.2(KIF1A):c.2116+1G>C

SNV
Germline

Chr2:240762718

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351325992

rs_1553633687

1 SubmittersRCV000639768

NM_014946.4(SPAST):c.156T>G (p.Tyr52Ter)

SNV
Germline

Chr2:32063987

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346601502

rs_1553394497

1 SubmittersRCV000644885

NM_014946.4(SPAST):c.1252G>T (p.Glu418Ter)

SNV
Germline

Chr2:32136569

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501839

rs_1553318164

1 SubmittersRCV000644890

NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)

SNV
Germline

Chr2:32126952

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501201

rs_1553316799

2 SubmittersRCV000644886

NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala)

SNV
Germline

Chr2:32137151

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502469

rs_1553318320

3 SubmittersRCV000644892 RCV002222579

NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)

SNV
Germline

Chr2:32154420

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346505617

rs_1553321237

4 SubmittersRCV000644898 RCV001508983

NM_014946.4(SPAST):c.444G>A (p.Trp148Ter)

SNV
Germline

Chr2:32087520

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346603151

rs_1553399493

3 SubmittersRCV000644900 RCV003420132

NM_014946.4(SPAST):c.1121C>T (p.Pro374Leu)

SNV
Germline

Chr2:32126970

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501238

rs_1471030618

1 SubmittersRCV000644887

NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)

SNV
Germline

Chr2:32136903

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502217

rs_1553318223

3 SubmittersRCV000644893

NM_014946.4(SPAST):c.1494G>C (p.Arg498Ser)

SNV
Germline

Chr2:32141904

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502816

rs_1553319075

1 SubmittersRCV000644884

NM_014946.4(SPAST):c.1573C>T (p.Gln525Ter)

SNV
Germline

Chr2:32143372

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346503744

rs_1553319296

1 SubmittersRCV000644903

NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)

SNV
Germline

Chr7:4785551

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4137557

rs_201196622

6 SubmittersRCV000648382 RCV001086303 RCV001283507 RCV001849028 RCV003928103

NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)

SNV
Germline

Chr8:125056751

Conflicting classifications of pathogenicity

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4873676

rs_758919422

3 SubmittersRCV000638547 RCV001849013 RCV002528904

NM_015214.3(DDHD2):c.725G>A (p.Arg242His)

SNV
Germline

Chr8:38242262

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4716073

rs_767497993

3 SubmittersRCV000650281 RCV004972821

NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys)

SNV
Germline

Chr8:38253646

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4716413

rs_201656753

4 SubmittersRCV000650280 RCV001579907 RCV002531954

NM_015046.7(SETX):c.4979A>G (p.His1660Arg)

SNV
Germline

Chr9:132326619

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Condition: not provided
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297100

rs_371894414

5 SubmittersRCV000644814 RCV001849022 RCV002473088 RCV003233772 RCV002334141 RCV003233771

NM_015046.7(SETX):c.2124T>C (p.Ser708=)

SNV
Germline

Chr9:132329474

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297662

rs_139236924

4 SubmittersRCV001849023 RCV000644840 RCV002422334 RCV003432685

NM_014363.6(SACS):c.12762C>T (p.Ser4254=)

SNV
Germline

Chr13:23331114

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910094

rs_11554397

10 SubmittersRCV000633091 RCV001114730 RCV001571934 RCV001849009 RCV001288701 RCV003935763

NM_014363.6(SACS):c.10305T>C (p.Ser3435=)

SNV
Germline

Chr13:23333571

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
not specified
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910469

rs_35670472

10 SubmittersRCV000633092 RCV001109204 RCV001558026 RCV001288369 RCV001849010 RCV003935764

NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)

SNV
Germline

Chr13:23339119

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911347

rs_201558584

7 SubmittersRCV000633040 RCV001111812 RCV001508703 RCV001849005

NM_015915.5(ATL1):c.1041G>A (p.Met347Ile)

SNV
Germline

Chr14:50621893

Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA389673664

rs_1555365512

2 SubmittersRCV000647936 RCV003483702

NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=)

SNV
Germline

Chr14:67755248

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239134

rs_372463199

3 SubmittersRCV000633066 RCV001288444 RCV001849008

NM_015915.5(ATL1):c.27C>G (p.Asn9Lys)

SNV
Germline

Chr14:50560292

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180146

rs_752593199

2 SubmittersRCV000647933 RCV002440339

NM_015915.5(ATL1):c.536C>A (p.Ser179Tyr)

SNV
Germline

Chr14:50593859

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389668085

rs_1555364149

2 SubmittersRCV000647934 RCV003480737

NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)

SNV
Germline

Chr14:50621876

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389673592

rs_1555365509

2 SubmittersRCV000647931

NM_144599.5(NIPA1):c.403G>A (p.Val135Met)

SNV
Germline

Chr15:22820398

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA7426096

rs_763295984

2 SubmittersRCV000640458

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
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7533946

rs_200276333

8 SubmittersRCV000642530 RCV001507872 RCV002467949 RCV002360574 RCV002467948 RCV004748877

NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)

SNV
Germline

Chr15:44615544

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7535116

rs_372906057

4 SubmittersRCV000642550 RCV002282282 RCV005000438

NM_025137.4(SPG11):c.7000-10T>G

SNV
Germline

Chr15:44564708

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658798318

rs_1419777882

2 SubmittersRCV000642598 RCV005000439

NM_025137.4(SPG11):c.6343+1G>T

SNV
Germline

Chr15:44572682

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392216998

rs_1555447432

1 SubmittersRCV000642571

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_025137.4(SPG11):c.4410C>T (p.Leu1470=)

SNV
Germline

Chr15:44596107

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534698

rs_145579121

4 SubmittersRCV000642606 RCV001577156 RCV002331177

NM_025137.4(SPG11):c.36C>T (p.Ser12=)

SNV
Germline

Chr15:44663612

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535971

rs_368656047

4 SubmittersRCV000642597 RCV001662693 RCV002343287

NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)

SNV
Germline

Chr16:89553871

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA8244506

rs_369503365

3 SubmittersRCV000640984 RCV004526729

NM_003119.4(SPG7):c.1151-8C>T

SNV
Germline

Chr16:89532455

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8243975

rs_200402056

2 SubmittersRCV002060744 RCV001849015

NM_003119.4(SPG7):c.861+1G>T

SNV
Germline

Chr16:89529580

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397418835

rs_1412575396

1 SubmittersRCV000640981

NM_006612.6(KIF1C):c.339A>G (p.Pro113=)

SNV
Germline

Chr17:5001377

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318508

rs_142773987

2 SubmittersRCV000645369 RCV001849025

NM_001166114.2(PNPLA6):c.3699+9G>A

SNV
Germline

Chr19:7559160

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140538

rs_201144113

2 SubmittersRCV000646163

NM_001199753.2(CPT1C):c.2059C>G (p.Pro687Ala)

SNV
Germline

Chr19:49712775

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
CPT1C-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9582404

rs_200190780

3 SubmittersRCV000653259 RCV003907915 RCV004025900

NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter)

SNV
Unknown

Chr15:44573601

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_771057519

1 SubmittersRCV000656403

NM_001010867.4(IBA57):c.286T>C (p.Tyr96His)

SNV
Germline

Chr1:228166102

Pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_765926471

4 SubmittersRCV000656683 RCV004796264

NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)

SNV
Germline

Chr1:228166132

Pathogenic/Likely pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1053773776

4 SubmittersRCV000656684 RCV001309858

NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)

SNV
Germline

Chr16:89532504

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_1373388852

6 SubmittersRCV000657638 RCV001855358

NM_014946.4(SPAST):c.1245+5G>A

SNV
Germline

Chr2:32128484

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_1553317049

5 SubmittersRCV000658864 RCV001729680

NM_001244008.2(KIF1A):c.2494C>T (p.Pro832Ser)

SNV
Germline

Chr2:240758448

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757726053

3 SubmittersRCV000658904 RCV000805107 RCV002424560

NM_015046.7(SETX):c.2502A>G (p.Gly834=)

SNV
Germline

Chr9:132329096

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_762818441

7 SubmittersRCV000659130 RCV001287952 RCV001473215 RCV001849033 RCV002424561

NM_001320916.1(ENTPD1):c.52G>A (p.Glu18Lys)

SNV
Germline

Chr10:95755766

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_192954755

3 SubmittersRCV000660463 RCV001849034

NM_015346.4(ZFYVE26):c.7416+2T>C

SNV
Unknown

Chr14:67751050

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555393005

1 SubmittersRCV000673325

NM_015346.4(ZFYVE26):c.6987-1G>A

SNV
Germline

Chr14:67754213

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555393393

2 SubmittersRCV000668085 RCV003750812

NM_015346.4(ZFYVE26):c.4798-1G>T

SNV
Unknown

Chr14:67777736

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555396303

1 SubmittersRCV000669054

NM_015346.4(ZFYVE26):c.3626+1G>C

SNV
Unknown

Chr14:67784333

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555397310

1 SubmittersRCV000670998

NM_015346.4(ZFYVE26):c.3139+2T>G

SNV
Germline

Chr14:67786112

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_767164213

4 SubmittersRCV000667647 RCV000816370

NM_015346.4(ZFYVE26):c.3020-2A>G

SNV
Germline

Chr14:67786235

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1470672632

2 SubmittersRCV000671769 RCV002532112

NM_015346.4(ZFYVE26):c.2248+2T>C

SNV
Unknown

Chr14:67798012

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555399278

1 SubmittersRCV000674317

NM_015346.4(ZFYVE26):c.1017+1G>T

SNV
Germline

Chr14:67806544

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1224762841

2 SubmittersRCV000668837 RCV001855508

NM_015346.4(ZFYVE26):c.274-2A>G

SNV
Germline

Chr14:67809291

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_769329153

2 SubmittersRCV000674973 RCV000807263

NM_015346.4(ZFYVE26):c.7371+1G>A

SNV
Unknown

Chr14:67752343

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555393181

1 SubmittersRCV000673366

NM_015346.4(ZFYVE26):c.5321-2A>G

SNV
Unknown

Chr14:67772212

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555395560

2 SubmittersRCV000673002

NM_015346.4(ZFYVE26):c.3524-2A>G

SNV
Germline

Chr14:67784438

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555397331

2 SubmittersRCV000672660 RCV003750815

NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)

SNV
Germline

Chr14:67794234

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_941230062

4 SubmittersRCV000671734 RCV001855566

NM_015346.4(ZFYVE26):c.2333-1G>C

SNV
Unknown

Chr14:67794240

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_746606852

1 SubmittersRCV000671378

NM_015346.4(ZFYVE26):c.1436-1G>A

SNV
Germline

Chr14:67802283

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_545219731

2 SubmittersRCV000669956 RCV002532092

NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter)

SNV
Germline

Chr14:67807692

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_200832994

4 SubmittersRCV000672398 RCV000823623 RCV002532123

NM_015346.4(ZFYVE26):c.7188+1G>A

SNV
Germline

Chr14:67753706

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555393338

2 SubmittersRCV000668581 RCV002532076

NM_015346.4(ZFYVE26):c.7128+2T>A

SNV
Germline

Chr14:67754069

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1049504575

2 SubmittersRCV000666227 RCV001390237

NM_015346.4(ZFYVE26):c.5791-6G>A

SNV
Germline

Chr14:67766453

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_771906344

5 SubmittersRCV000670827 RCV001267971 RCV001849039 RCV002531264

NM_015346.4(ZFYVE26):c.5485-2A>G

SNV
Unknown

Chr14:67769732

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555395288

1 SubmittersRCV000674319

NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter)

SNV
Germline

Chr14:67775866

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1214483973

2 SubmittersRCV000671652 RCV003588667

NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)

SNV
Germline

Chr14:67777729

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Atypical behavior
Intellectual disability
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_558285072

3 SubmittersRCV000665612 RCV000823096 RCV001730704

NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)

SNV
Germline

Chr13:23355608

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_767435985

4 SubmittersRCV000673666 RCV001849042 RCV002060828

NM_015346.4(ZFYVE26):c.3139+1G>A

SNV
Germline

Chr14:67786113

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_137907310

7 SubmittersRCV000664865 RCV001217814 RCV002225709 RCV002530639 RCV004017713

NM_015346.4(ZFYVE26):c.2554-2A>G

SNV
Germline

Chr14:67790775

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1186788102

2 SubmittersRCV000671376 RCV001379655

NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter)

SNV
Germline

Chr14:67798080

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_981804211

3 SubmittersRCV000668831 RCV003588664

NM_015346.4(ZFYVE26):c.363+2T>G

SNV
Unknown

Chr14:67809198

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_760001730

1 SubmittersRCV000674974

NM_015346.4(ZFYVE26):c.363+1G>A

SNV
Germline

Chr14:67809199

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_935301743

3 SubmittersRCV000666565 RCV001849037 RCV001868215

NM_015346.4(ZFYVE26):c.5484+1G>T

SNV
Unknown

Chr14:67772046

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555395524

1 SubmittersRCV000666925

NM_015346.4(ZFYVE26):c.3020-1G>A

SNV
Unknown

Chr14:67786234

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555397638

1 SubmittersRCV000670210

NM_015346.4(ZFYVE26):c.2401+1G>T

SNV
Unknown

Chr14:67794170

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1555398778

1 SubmittersRCV000665760

NM_014946.4(SPAST):c.1375A>G (p.Arg459Gly)

SNV
Germline

Chr2:32136930

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

rs_1553318238

1 SubmittersRCV000677392

NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)

SNV
Germline

Chr12:57581950

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_146202502

6 SubmittersRCV000678471 RCV001539411 RCV002289954 RCV004639315

NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)

SNV
Germline

Chr7:100105526

Pathogenic

Hereditary spastic paraplegia 50
Condition: not provided
Intellectual disability
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_369459721

5 SubmittersRCV000680158 RCV001008671 RCV001260899 RCV001849043 RCV001849426

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

Criteria Provided
Conflicting Classifications

rs_371334506

3 SubmittersRCV000679859 RCV000806086 RCV002467985 RCV002467984

NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)

SNV
Germline

Chr15:44589270

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_368276916

3 SubmittersRCV000680108 RCV001855629 RCV002467986

NM_002156.5(HSPD1):c.1381C>G (p.Gln461Glu)

SNV
Germline

Chr2:197488326

Pathogenic

Hereditary spastic paraplegia 13

No Assertion Criteria Provided

1 SubmittersRCV000680223

NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)

SNV
Germline

Chr4:107947417

Pathogenic

Hereditary spastic paraplegia 56
See cases
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_772400670

5 SubmittersRCV000681665 RCV002252212 RCV002531424

NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu)

SNV
Germline

Chr1:109627794

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_746332433

3 SubmittersRCV000692141 RCV004760714 RCV004586881

NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu)

SNV
Germline

Chr2:240719157

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_549560429

4 SubmittersRCV000685275 RCV003362888 RCV001849044 RCV003432727

NM_001244008.2(KIF1A):c.4790C>T (p.Pro1597Leu)

SNV
Germline

Chr2:240720992

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_374417779

4 SubmittersRCV000686332 RCV001766464 RCV001136786

NM_001244008.2(KIF1A):c.4319-2A>G

SNV
Germline

Chr2:240723560

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_1559477798

1 SubmittersRCV000696128

NM_014946.4(SPAST):c.1537-11A>G

SNV
Germline

Chr2:32143325

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_549538513

2 SubmittersRCV000685954

NM_014946.4(SPAST):c.1729-2A>G

SNV
Germline

Chr2:32154372

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553321194

1 SubmittersRCV000699506

NM_001244008.2(KIF1A):c.3826C>T (p.Arg1276Ter)

SNV
Germline

Chr2:240740133

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_368078424

4 SubmittersRCV000698692 RCV003442041 RCV003986053 RCV004527747

NM_001244008.2(KIF1A):c.3721G>A (p.Glu1241Lys)

SNV
Germline

Chr2:240741297

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770190085

3 SubmittersRCV000696930 RCV001771971 RCV003243263

NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met)

SNV
Germline

Chr2:240763268

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_370071963

5 SubmittersRCV000694998 RCV000997712 RCV002406593 RCV001849060

NM_001244008.2(KIF1A):c.1276G>A (p.Val426Met)

SNV
Germline

Chr2:240771036

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_531522772

3 SubmittersRCV000686526 RCV001562639

NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)

SNV
Germline

Chr2:240783788

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_1559526692

1 SubmittersRCV000703669

NM_001244008.2(KIF1A):c.699G>C (p.Glu233Asp)

SNV
Germline

Chr2:240785010

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373882732

3 SubmittersRCV000695006 RCV002369880 RCV004721558

NM_014946.4(SPAST):c.1258G>C (p.Glu420Gln)

SNV
Germline

Chr2:32136575

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1558336551

1 SubmittersRCV000699128

NM_014946.4(SPAST):c.1494-2A>G

SNV
Germline

Chr2:32141902

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1218081251

1 SubmittersRCV000689805

NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile)

SNV
Germline

Chr2:32144969

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1553319537

2 SubmittersRCV000689829 RCV001391566

NM_014946.4(SPAST):c.1666G>C (p.Ala556Pro)

SNV
Germline

Chr2:32144986

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1558341948

1 SubmittersRCV000686016

NM_014946.4(SPAST):c.1728+1G>A

SNV
Germline

Chr2:32147259

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_587777754

4 SubmittersRCV000686758 RCV003332228

NM_001371279.1(REEP1):c.371G>A (p.Arg124Gln)

SNV
Germline

Chr2:86252003

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757087677

2 SubmittersRCV000701587 RCV002343537

NM_006070.6(TFG):c.310T>C (p.Tyr104His)

SNV
Germline

Chr3:100728753

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
not specified

Criteria Provided
Conflicting Classifications

rs_775608477

2 SubmittersRCV000707180 RCV004526019

NM_001244008.2(KIF1A):c.4306G>A (p.Ala1436Thr)

SNV
Germline

Chr2:240723987

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200126737

5 SubmittersRCV000685496 RCV001139023 RCV001662748 RCV001849045 RCV002331325

NM_001244008.2(KIF1A):c.1139G>C (p.Arg380Pro)

SNV
Germline

Chr2:240773155

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_759791775

2 SubmittersRCV000696460 RCV002468600

NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp)

SNV
Germline

Chr2:240773156

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_545501989

3 SubmittersRCV000707443 RCV001251226 RCV002325437

NM_001244008.2(KIF1A):c.609-1G>A

SNV
Germline

Chr2:240785101

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_1559527796

1 SubmittersRCV000696483

NM_014946.4(SPAST):c.1139T>C (p.Leu380Pro)

SNV
Germline

Chr2:32126988

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553316819

1 SubmittersRCV000686755

NM_014946.4(SPAST):c.1617-1G>A

SNV
Germline

Chr2:32144936

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553319526

1 SubmittersRCV000696816

NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln)

SNV
Germline

Chr2:240719070

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760970824

2 SubmittersRCV000685176 RCV002334247

NM_001244008.2(KIF1A):c.4513G>A (p.Ala1505Thr)

SNV
Germline

Chr2:240722608

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_915433180

3 SubmittersRCV000693211 RCV001580537 RCV002334303

NM_001244008.2(KIF1A):c.4229G>T (p.Gly1410Val)

SNV
Germline

Chr2:240725298

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_754172009

2 SubmittersRCV000704569 RCV002332500

NM_001244008.2(KIF1A):c.3671G>A (p.Arg1224Gln)

SNV
Germline

Chr2:240741347

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375993206

3 SubmittersRCV000698066 RCV001576489 RCV002458268

NM_001244008.2(KIF1A):c.1954C>T (p.Gln652Ter)

SNV
Germline

Chr2:240763087

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_748477031

1 SubmittersRCV000689516

NM_014946.4(SPAST):c.1457C>T (p.Thr486Ile)

SNV
Germline

Chr2:32137152

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1558337122

1 SubmittersRCV000701279

NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr7:4784287

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_988434253

1 SubmittersRCV000701450

NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)

SNV
Germline

Chr4:107949437

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 56
Condition: not provided
Hereditary spastic paraplegia
CYP2U1-related disorder

Criteria Provided
Conflicting Classifications

rs_747965749

7 SubmittersRCV000692719 RCV001391446 RCV001570056 RCV001849057 RCV004799666

NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)

SNV
Germline

Chr8:125081668

Pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Single Submitter

rs_1462319941

1 SubmittersRCV002233667

NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)

SNV
Germline

Chr8:125059239

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

rs_761801345

2 SubmittersRCV001391385 RCV002233288

NM_014846.4(WASHC5):c.1151-2A>G

SNV
Germline

Chr8:125067721

Likely pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome 1

Criteria Provided
Single Submitter

rs_1563627853

1 SubmittersRCV000691473

NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)

SNV
Germline

Chr8:125078767

Conflicting classifications of pathogenicity

Ritscher-Schinzel syndrome 1
Hereditary spastic paraplegia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754463353

2 SubmittersRCV000707560 RCV004768601

NM_015214.3(DDHD2):c.1248+2T>C

SNV
Germline

Chr8:38247837

Likely pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

rs_753950471

1 SubmittersRCV000707219

NM_014363.6(SACS):c.2776A>G (p.Ile926Val)

SNV
Germline

Chr13:23341100

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

rs_144362131

7 SubmittersRCV001257223 RCV001111915 RCV001849073 RCV004997239

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
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy

Criteria Provided
Conflicting Classifications

rs_370905417

3 SubmittersRCV000690113 RCV002397389 RCV002485632

NM_001351169.2(NT5C2):c.1272+1G>C

SNV
Germline

Chr10:103090935

Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

rs_1430860231

1 SubmittersRCV000702998

NM_004722.4(AP4M1):c.929+5G>A

SNV
Germline

Chr7:100105544

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1293317548

4 SubmittersRCV000698080 RCV001544899 RCV001849064

NM_015915.5(ATL1):c.572A>G (p.Gln191Arg)

SNV
Germline

Chr14:50593895

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_1566725003

1 SubmittersRCV000698465

NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)

SNV
Germline

Chr15:44563204

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

rs_371313584

4 SubmittersRCV000685566 RCV001584551 RCV002369821 RCV002467995 RCV002467996

NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)

SNV
Germline

Chr15:44657201

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

rs_139091750

4 SubmittersRCV000696904 RCV001799700 RCV002388274 RCV002468012 RCV002468013

NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val)

SNV
Germline

Chr15:50958637

Conflicting classifications of pathogenicity

Spastic paraplegia
Neurodevelopmental delay
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142762839

5 SubmittersRCV000688668 RCV000856698 RCV001849053 RCV003389827 RCV004026301

NM_014363.6(SACS):c.9551G>A (p.Arg3184His)

SNV
Germline

Chr13:23334325

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200453385

4 SubmittersRCV000689777 RCV001829908 RCV001849054 RCV004958003

NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)

SNV
Germline

Chr8:125055601

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_397515564

2 SubmittersRCV001391387 RCV002232914

NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)

SNV
Germline

Chr8:125067692

Conflicting classifications of pathogenicity

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_151298198

5 SubmittersRCV000685841 RCV001163529 RCV001574559 RCV002544726

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
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

rs_139423939

5 SubmittersRCV000686533 RCV000995317 RCV002343435 RCV002468000 RCV002467999

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

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
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_752401008

7 SubmittersRCV000692442 RCV000765211 RCV002468006 RCV002468005 RCV003223668

NM_025137.4(SPG11):c.4365G>A (p.Trp1455Ter)

SNV
Germline

Chr15:44596152

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_138103656

1 SubmittersRCV000690204

NM_003119.4(SPG7):c.1553-2A>G

SNV
Germline

Chr16:89548001

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1229749476

2 SubmittersRCV000698570 RCV001091057

NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)

SNV
Germline

Chr15:44567580

Pathogenic

Hereditary spastic paraplegia 11
SPG11-related disorder
Early-onset Parkinson disease 20
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

rs_141263564

8 SubmittersRCV000694024 RCV003411614 RCV003447554 RCV004792389 RCV001849059 RCV003883160 RCV004768574

NM_025137.4(SPG11):c.6418C>T (p.Gln2140Ter)

SNV
Germline

Chr15:44570584

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567129475

2 SubmittersRCV000688949 RCV004719948

NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala)

SNV
Germline

Chr19:7555609

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201902695

6 SubmittersRCV000705033 RCV001592904

NM_003119.4(SPG7):c.338A>G (p.Lys113Arg)

SNV
Germline

Chr16:89512999

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_771130240

2 SubmittersRCV000695759 RCV004025252

NM_003119.4(SPG7):c.1420C>T (p.His474Tyr)

SNV
Germline

Chr16:89544743

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_1567926386

2 SubmittersRCV000686569

NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)

SNV
Germline

Chr16:74774623

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

rs_1247665387

2 SubmittersRCV000708595

NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser)

SNV
Germline

Chr2:240721856

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_755380517

2 SubmittersRCV000712149 RCV001868325

NM_001244008.2(KIF1A):c.3759G>A (p.Pro1253=)

SNV
Germline

Chr2:240740355

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777751073

3 SubmittersRCV000712148 RCV001861969 RCV002343586

NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser)

SNV
Germline

Chr2:240745816

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_1288885072

3 SubmittersRCV000712146 RCV001369098

NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)

SNV
Germline

Chr2:32114701

Pathogenic

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553314902

5 SubmittersRCV000713472 RCV001849079 RCV002532955

NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)

SNV
Germline

Chr2:32128408

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_1558331867

5 SubmittersRCV000713459 RCV001726320

NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)

SNV
Germline

Chr8:64596914

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_367916692

4 SubmittersRCV000713475 RCV001391409 RCV001861991

NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)

SNV
Germline

Chr9:132327633

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_144900653

6 SubmittersRCV000713211 RCV001210286 RCV001849075 RCV002369984 RCV004544961

NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)

SNV
Germline

Chr13:23338891

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_139387396

5 SubmittersRCV001086156 RCV001644779 RCV002245624 RCV001849074 RCV003907976

NM_014363.6(SACS):c.2580A>G (p.Gln860=)

SNV
Germline

Chr13:23341296

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_41283958

10 SubmittersRCV000712969 RCV000765125 RCV001087176 RCV001849072

NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)

SNV
Germline

Chr15:44585664

Pathogenic

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_1462607878

4 SubmittersRCV000713419 RCV001849077 RCV001861990

NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile)

SNV
Germline

Chr19:7542043

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369465821

4 SubmittersRCV000712779 RCV001056230 RCV004026821

NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr)

SNV
Germline

Chr19:7542665

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_761591000

3 SubmittersRCV000712780 RCV001083172

NM_001166114.2(PNPLA6):c.3627C>G (p.Ser1209=)

SNV
Germline

Chr19:7559079

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_1568423844

2 SubmittersRCV000712782 RCV002532937

NM_006567.5(FARS2):c.476A>C (p.His159Pro)

SNV
Germline

Chr6:5369046

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14

Criteria Provided
Conflicting Classifications

rs_1561990390

1 SubmittersRCV000714941 RCV000714919

NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)

SNV
Germline

Chr1:113895991

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200276550

4 SubmittersRCV001862068 RCV002316774

NM_001244008.2(KIF1A):c.1596C>T (p.Gly532=)

SNV
Germline

Chr2:240767003

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_754916421

4 SubmittersRCV000877114 RCV001143566 RCV001557831 RCV002316133

NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp)

SNV
Germline

Chr2:240717372

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375509312

5 SubmittersRCV000808753 RCV001849082 RCV002314463 RCV003133576

NM_001244008.2(KIF1A):c.3617G>A (p.Arg1206Gln)

SNV
Germline

Chr2:240742952

Conflicting classifications of pathogenicity

History of neurodevelopmental disorder
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369849214

3 SubmittersRCV000716756 RCV001038758 RCV001662788

NM_001244008.2(KIF1A):c.2934C>T (p.Gly978=)

SNV
Germline

Chr2:240750472

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751977290

4 SubmittersRCV000757423 RCV001087246 RCV002318844

NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)

SNV
Germline

Chr2:240745824

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_542427011

6 SubmittersRCV000958638 RCV001816781 RCV001849083 RCV002318697 RCV002275153 RCV004737977

NM_001371279.1(REEP1):c.231G>A (p.Leu77=)

SNV
Germline

Chr2:86254766

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31

Criteria Provided
Conflicting Classifications

rs_139808535

3 SubmittersRCV000732935 RCV001084794

NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)

SNV
Germline

Chr19:29702977

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

rs_752450983

6 SubmittersRCV000754614 RCV000821485 RCV001544960 RCV002271579

NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr)

SNV
Germline

Chr16:74716452

Likely pathogenic

Hereditary spastic paraplegia 35

No Assertion Criteria Provided

rs_1274600570

1 SubmittersRCV000786060

NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)

SNV
Germline

Chr16:74716476

Likely pathogenic

Hereditary spastic paraplegia 35

No Assertion Criteria Provided

rs_1567632441

1 SubmittersRCV000786061

NM_003119.4(SPG7):c.2104-2A>G

SNV
Germline

Chr16:89554484

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_1567934754

2 SubmittersRCV000786074

NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)

SNV
Germline

Chr9:132326547

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140116005

7 SubmittersRCV001047649 RCV001849091 RCV002343608 RCV000757760

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
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_769898852

7 SubmittersRCV000760765 RCV001198712 RCV002287441 RCV004788159

NM_015161.3(ARL6IP1):c.346C>T (p.Arg116Ter)

SNV
Germline

Chr16:18795526

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 61
ARL6IP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_750623911

4 SubmittersRCV000760563 RCV002533839 RCV004758727

NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter)

SNV
Germline

Chr2:86263965

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 31

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558898568

5 SubmittersRCV000760593 RCV001855928

NM_014946.4(SPAST):c.1666G>A (p.Ala556Thr)

SNV
Germline

Chr2:32144986

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1558341948

1 SubmittersRCV000761357

NM_003119.4(SPG7):c.861+1G>C

SNV
Germline

Chr16:89529580

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1412575396

4 SubmittersRCV000761358 RCV004792432

NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)

SNV
Germline

Chr1:113895992

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 47
AP4B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_529495094

6 SubmittersRCV000761677 RCV001849437 RCV001855943 RCV003413550

NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln)

SNV
Germline

Chr2:240722601

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_750045020

3 SubmittersRCV000762332 RCV000820696 RCV002334428

NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)

SNV
Germline

Chr13:23332810

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_148925505

7 SubmittersRCV000761851 RCV001111443 RCV001241078 RCV001849092

NM_015214.3(DDHD2):c.694C>T (p.Arg232Ter)

SNV
Germline

Chr8:38240346

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

rs_1249841130

2 SubmittersRCV000784989

NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys)

SNV
Germline

Chr18:45063678

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759235645

2 SubmittersRCV000784992 RCV002068543

NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)

SNV
Germline

Chr4:107950251

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 56
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_762873672

2 SubmittersRCV000785945 RCV003750822

NM_007347.5(AP4E1):c.1317-2A>C

SNV
Germline

Chr15:50949824

Likely pathogenic

Hereditary spastic paraplegia 51

Criteria Provided
Single Submitter

rs_1567230528

1 SubmittersRCV000785899

NM_014946.4(SPAST):c.1174-1G>A

SNV
Germline

Chr2:32128407

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553317024

3 SubmittersRCV000787278

NM_020944.3(GBA2):c.518G>A (p.Trp173Ter)

SNV
Germline

Chr9:35744346

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

rs_1588022768

2 SubmittersRCV000790866

NM_020944.3(GBA2):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr9:35744703

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

rs_1588023668

2 SubmittersRCV000790865

NM_015214.3(DDHD2):c.334C>T (p.Arg112Ter)

SNV
Germline

Chr8:38234507

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

rs_755267771

1 SubmittersRCV000790938

NM_001244008.2(KIF1A):c.5027T>C (p.Ile1676Thr)

SNV
Germline

Chr2:240719193

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_372664825

2 SubmittersRCV000798232 RCV003457804

NM_001244008.2(KIF1A):c.4981C>T (p.Gln1661Ter)

SNV
Germline

Chr2:240719814

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_1575514086

1 SubmittersRCV000823153

NM_001244008.2(KIF1A):c.4820C>T (p.Ser1607Phe)

SNV
Germline

Chr2:240720962

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_768366163

3 SubmittersRCV000812399 RCV003442104 RCV002336674

NM_001244008.2(KIF1A):c.4660G>A (p.Val1554Ile)

SNV
Germline

Chr2:240722461

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_567408550

4 SubmittersRCV000809324 RCV002336657 RCV003106071

NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln)

SNV
Germline

Chr2:240722623

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_376432305

5 SubmittersRCV000793420 RCV001310786 RCV002332590 RCV001000675

NM_001244008.2(KIF1A):c.4307C>T (p.Ala1436Val)

SNV
Germline

Chr2:240723986

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_375688061

3 SubmittersRCV000796168 RCV004792479 RCV001849101

NM_001244008.2(KIF1A):c.3887G>A (p.Arg1296His)

SNV
Germline

Chr2:240740072

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371517661

3 SubmittersRCV001849120 RCV000819865 RCV001310788

NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter)

SNV
Germline

Chr2:240760759

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1327297188

2 SubmittersRCV000823204 RCV000997711

NM_001244008.2(KIF1A):c.2147C>T (p.Ala716Val)

SNV
Germline

Chr2:240761347

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_555749038

2 SubmittersRCV000823375 RCV002427070

NM_001244008.2(KIF1A):c.1265G>A (p.Arg422His)

SNV
Germline

Chr2:240771047

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_771678168

2 SubmittersRCV000814028 RCV002442726

NM_001244008.2(KIF1A):c.799G>C (p.Glu267Gln)

SNV
Germline

Chr2:240783109

Pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_1553637932

1 SubmittersRCV000799366

NM_001244008.2(KIF1A):c.737T>G (p.Leu246Arg)

SNV
Germline

Chr2:240783800

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_1575626071

1 SubmittersRCV000801438

NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)

SNV
Germline

Chr2:240797721

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1575654528

8 SubmittersRCV000810861 RCV001332405 RCV001251221 RCV003106073

NM_014946.4(SPAST):c.443G>A (p.Trp148Ter)

SNV
Germline

Chr2:32087519

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1573068995

1 SubmittersRCV000796148

NM_014946.4(SPAST):c.1151C>T (p.Pro384Leu)

SNV
Germline

Chr2:32127000

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1573139616

1 SubmittersRCV000817235

NM_014946.4(SPAST):c.1220G>A (p.Ser407Asn)

SNV
Germline

Chr2:32128454

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573142616

2 SubmittersRCV000823946 RCV003442117

NM_014946.4(SPAST):c.1238C>T (p.Ser413Leu)

SNV
Germline

Chr2:32128472

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553317045

1 SubmittersRCV000799219

NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)

SNV
Germline

Chr2:32136569

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1553318164

4 SubmittersRCV000819752 RCV001772134

NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)

SNV
Germline

Chr2:32136915

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318230

4 SubmittersRCV000823324

NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile)

SNV
Germline

Chr4:107944996

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_374109524

2 SubmittersRCV000809394 RCV001849112

NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln)

SNV
Germline

Chr6:5545332

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
Inborn genetic diseases
FARS2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762302341

5 SubmittersRCV000793798 RCV001329582 RCV003258971 RCV004751704 RCV004794456

NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala)

SNV
Germline

Chr7:4784955

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_554060393

2 SubmittersRCV000808473 RCV002537288

NM_014855.3(AP5Z1):c.841T>A (p.Ser281Thr)

SNV
Germline

Chr7:4784958

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765690642

3 SubmittersRCV000800952 RCV002534664

NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys)

SNV
Germline

Chr7:4785624

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_551568063

5 SubmittersRCV000791496 RCV002261204 RCV003338793

NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)

SNV
Germline

Chr7:4785684

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_777093701

6 SubmittersRCV000808499 RCV001664426 RCV001849111

NM_015214.3(DDHD2):c.420C>A (p.Tyr140Ter)

SNV
Germline

Chr8:38237546

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

rs_939799061

2 SubmittersRCV000809392

NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg)

SNV
Germline

Chr8:64604713

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A

Criteria Provided
Conflicting Classifications

rs_1467815062

2 SubmittersRCV000793799 RCV003320370

NM_004820.5(CYP7B1):c.854A>T (p.His285Leu)

SNV
Germline

Chr8:64615229

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A

Criteria Provided
Conflicting Classifications

rs_750781606

2 SubmittersRCV000796326 RCV003320371

NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)

SNV
Germline

Chr12:57581089

Conflicting classifications of pathogenicity

Spastic paraplegia
KIF5A-related disorder
Inborn genetic diseases
Hereditary spastic paraplegia 10
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767911747

6 SubmittersRCV000802776 RCV004549879 RCV004028120 RCV001113505 RCV004723208

NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)

SNV
Germline

Chr13:23338508

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_147517201

3 SubmittersRCV000821085 RCV001276943 RCV001849125

NM_014844.5(TECPR2):c.1255G>A (p.Gly419Ser)

SNV
Germline

Chr14:102431966

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779431365

3 SubmittersRCV000824257 RCV004669146

NM_015915.5(ATL1):c.1048G>A (p.Ala350Thr)

SNV
Germline

Chr14:50623177

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_1595621292

1 SubmittersRCV000810038

NM_015915.5(ATL1):c.1068T>A (p.Asn356Lys)

SNV
Germline

Chr14:50623197

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_1595621335

1 SubmittersRCV000793809

NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)

SNV
Germline

Chr14:50628071

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1595625010

3 SubmittersRCV000816079 RCV001547425

NM_015915.5(ATL1):c.1488C>A (p.Tyr496Ter)

SNV
Germline

Chr14:50628399

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_779304953

1 SubmittersRCV000793973

NM_015346.4(ZFYVE26):c.894G>A (p.Pro298=)

SNV
Germline

Chr14:67806668

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

rs_34082929

2 SubmittersRCV000805336 RCV001115293

NM_025137.4(SPG11):c.6724C>T (p.Gln2242Ter)

SNV
Germline

Chr15:44567454

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_866400911

1 SubmittersRCV000807733

NM_025137.4(SPG11):c.6062G>A (p.Arg2021Gln)

SNV
Germline

Chr15:44573690

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375420533

2 SubmittersRCV000816342 RCV004693367

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

Criteria Provided
Conflicting Classifications

rs_374303102

4 SubmittersRCV000811250 RCV001597216 RCV002468060 RCV002468061 RCV002538091

NM_025137.4(SPG11):c.4093T>C (p.Cys1365Arg)

SNV
Germline

Chr15:44596852

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144695607

2 SubmittersRCV000792830 RCV004997318

NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)

SNV
Germline

Chr15:44598714

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555451521

3 SubmittersRCV000818278 RCV002249527

NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter)

SNV
Germline

Chr15:44613454

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_771813705

1 SubmittersRCV000792523

NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)

SNV
Germline

Chr15:44629349

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

Criteria Provided
Conflicting Classifications

rs_373796566

5 SubmittersRCV000811249 RCV001593001 RCV002397668 RCV002468059 RCV002468058

NM_025137.4(SPG11):c.1562A>G (p.Asn521Ser)

SNV
Germline

Chr15:44648906

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143528472

2 SubmittersRCV000797041 RCV002537036

NM_025137.4(SPG11):c.1433A>G (p.Gln478Arg)

SNV
Germline

Chr15:44651514

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142428867

3 SubmittersRCV000801269 RCV002388482 RCV003225125

NM_025137.4(SPG11):c.925G>T (p.Gly309Ter)

SNV
Germline

Chr15:44652211

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_760659950

1 SubmittersRCV000824220

NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)

SNV
Germline

Chr16:89508503

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1314660313

3 SubmittersRCV000800813 RCV001662829

NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)

SNV
Germline

Chr16:89531964

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199789849

8 SubmittersRCV000810013 RCV000996407 RCV002537324

NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)

SNV
Germline

Chr16:89544732

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756535079

5 SubmittersRCV000798580 RCV002537998 RCV003323725 RCV004792484

NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)

SNV
Germline

Chr19:45485716

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201387324

5 SubmittersRCV000808954 RCV001287904 RCV001131935 RCV004028654

NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu)

SNV
Germline

Chr19:7555355

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_1599305317

2 SubmittersRCV000812187

NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp)

SNV
Germline

Chr19:7558969

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_766389806

3 SubmittersRCV000814583 RCV003153854

NM_000533.5(PLP1):c.489G>A (p.Trp163Ter)

SNV
Germline

ChrX:103787833

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

rs_1602384101

1 SubmittersRCV000795658

NM_014946.4(SPAST):c.1005-1G>A

SNV
Germline

Chr2:32116118

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553315318

1 SubmittersRCV000806119

NM_014946.4(SPAST):c.1688-1G>A

SNV
Germline

Chr2:32147217

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573174147

2 SubmittersRCV000804703 RCV002473146

NM_001244008.2(KIF1A):c.3584+6C>T

SNV
Germline

Chr2:240743936

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371009856

3 SubmittersRCV000818543 RCV001593013 RCV002460112

NM_001371279.1(REEP1):c.33-2A>G

SNV
Germline

Chr2:86282244

Likely pathogenic

Hereditary spastic paraplegia 31
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574077569

3 SubmittersRCV000793389 RCV001003952

NM_014855.3(AP5Z1):c.931+1G>A

SNV
Germline

Chr7:4785049

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_1583232513

1 SubmittersRCV000800447

NM_007347.5(AP4E1):c.944-6T>A

SNV
Germline

Chr15:50941436

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
AP4E1-related disorder

Criteria Provided
Conflicting Classifications

rs_775899244

3 SubmittersRCV000820126 RCV001849121 RCV003955531

NM_025137.4(SPG11):c.4435-2A>G

SNV
Germline

Chr15:44595461

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1555450825

1 SubmittersRCV000822685

NM_003119.4(SPG7):c.87G>A (p.Trp29Ter)

SNV
Germline

Chr16:89508504

Pathogenic

Polyneuropathy
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597597437

3 SubmittersRCV000850308 RCV001391422

NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)

SNV
Germline

Chr1:113900371

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
not specified
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752781534

4 SubmittersRCV001472284 RCV001816926 RCV001849137 RCV002352501

NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)

SNV
Germline

Chr1:228158314

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201277546

5 SubmittersRCV000861006 RCV002261233 RCV001849133 RCV002538896

NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)

SNV
Germline

Chr2:201754516

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_201161419

6 SubmittersRCV000862041 RCV001143736 RCV001143735 RCV001672966 RCV001849153

NM_183075.3(CYP2U1):c.60C>T (p.Leu20=)

SNV
Germline

Chr4:107931703

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_535692203

2 SubmittersRCV000861805 RCV001849150

NM_183075.3(CYP2U1):c.639C>T (p.His213=)

SNV
Germline

Chr4:107945118

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147256952

3 SubmittersRCV000861541 RCV001849144 RCV003432790

NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=)

SNV
Germline

Chr4:107945523

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374633238

3 SubmittersRCV001492536 RCV001849152 RCV003432791

NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)

SNV
Germline

Chr7:4783735

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_371534878

6 SubmittersRCV000861350 RCV001548045 RCV001664488 RCV001849141

NM_014855.3(AP5Z1):c.891C>T (p.Ala297=)

SNV
Germline

Chr7:4785008

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_763250825

3 SubmittersRCV001444748 RCV001664487 RCV001849139

NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=)

SNV
Germline

Chr7:4788163

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_376913055

2 SubmittersRCV001164827

NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=)

SNV
Germline

Chr7:4788283

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_377310579

2 SubmittersRCV001159919

NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=)

SNV
Germline

Chr7:4788841

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_775572689

2 SubmittersRCV001161318

NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)

SNV
Germline

Chr7:4791266

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
AP5Z1-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_188569082

5 SubmittersRCV000863005 RCV001585809 RCV003928350 RCV004997408

NM_014846.4(WASHC5):c.2076G>A (p.Thr692=)

SNV
Germline

Chr8:125055612

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

rs_746121315

2 SubmittersRCV000861603 RCV001158800

NM_015214.3(DDHD2):c.899C>T (p.Thr300Ile)

SNV
Germline

Chr8:38245792

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200249745

2 SubmittersRCV000862293 RCV001547727

NM_015214.3(DDHD2):c.1386C>T (p.Asn462=)

SNV
Germline

Chr8:38251953

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_137874590

2 SubmittersRCV000864178 RCV001847051

NM_020944.3(GBA2):c.326G>A (p.Ser109Asn)

SNV
Germline

Chr9:35748379

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_140988229

3 SubmittersRCV000862289 RCV001545896 RCV001849158

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

rs_375554369

2 SubmittersRCV000864157 RCV001847050

NM_152269.5(MTRFR):c.54G>A (p.Pro18=)

SNV
Germline

Chr12:123253728

Conflicting classifications of pathogenicity

Spastic paraplegia
Combined oxidative phosphorylation defect type 7
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_188310109

3 SubmittersRCV000863977 RCV001847048 RCV003311903

NM_014363.6(SACS):c.10980C>T (p.Pro3660=)

SNV
Germline

Chr13:23332896

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_141353693

3 SubmittersRCV000861725 RCV001825710 RCV001849148

NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)

SNV
Germline

Chr13:23336570

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_567650774

3 SubmittersRCV000862365 RCV001849160 RCV003141874

NM_014363.6(SACS):c.7200T>C (p.Phe2400=)

SNV
Germline

Chr13:23336676

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_148544893

5 SubmittersRCV000863351 RCV001115056 RCV001849169

NM_014363.6(SACS):c.5502G>C (p.Leu1834=)

SNV
Germline

Chr13:23338374

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_34389000

6 SubmittersRCV000861553 RCV001115154 RCV001664489 RCV001849145

NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)

SNV
Germline

Chr13:23338415

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_376680832

8 SubmittersRCV000863078 RCV001080973 RCV001115156 RCV001849165 RCV003955596 RCV004997409

NM_014363.6(SACS):c.1593C>T (p.Ile531=)

SNV
Germline

Chr13:23355019

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_113756713

7 SubmittersRCV000861032 RCV001109712 RCV001552523 RCV001849134 RCV003938209

NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)

SNV
Germline

Chr13:23355234

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

rs_145213666

4 SubmittersRCV000861435 RCV001277270 RCV001849142 RCV004997403

NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)

SNV
Germline

Chr13:23355586

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_190623423

4 SubmittersRCV000862139 RCV001849155 RCV003141873 RCV003892784

NM_014844.5(TECPR2):c.762G>A (p.Thr254=)

SNV
Germline

Chr14:102425102

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_138070234

3 SubmittersRCV000863661 RCV001847042

NM_014844.5(TECPR2):c.3582G>A (p.Thr1194=)

SNV
Germline

Chr14:102452569

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_372271880

2 SubmittersRCV000863171 RCV001849167

NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=)

SNV
Germline

Chr14:102497020

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200792120

4 SubmittersRCV000861700 RCV001849147 RCV003884747

NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)

SNV
Germline

Chr14:102497671

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided
TECPR2-related disorder

Criteria Provided
Conflicting Classifications

rs_77170608

6 SubmittersRCV000862938 RCV001849164 RCV002064460 RCV003908182

NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=)

SNV
Germline

Chr14:102497703

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_142318405

3 SubmittersRCV000862235 RCV001849157

NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn)

SNV
Germline

Chr14:53046803

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_202164262

2 SubmittersRCV001521823 RCV001849161

NM_015346.4(ZFYVE26):c.7413C>T (p.Asn2471=)

SNV
Germline

Chr14:67751055

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

rs_769245111

2 SubmittersRCV000862705 RCV001118023

NM_015346.4(ZFYVE26):c.3695G>A (p.Cys1232Tyr)

SNV
Germline

Chr14:67783457

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150010519

3 SubmittersRCV000860587 RCV001121755 RCV004820125

NM_025137.4(SPG11):c.2577A>G (p.Gln859=)

SNV
Germline

Chr15:44621802

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753130399

2 SubmittersRCV000863237 RCV001772156

NM_007347.5(AP4E1):c.852A>G (p.Leu284=)

SNV
Germline

Chr15:50930954

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_114575519

3 SubmittersRCV000861176 RCV001849136 RCV002062238

NM_016630.7(SPG21):c.771A>C (p.Pro257=)

SNV
Germline

Chr15:64965359

Conflicting classifications of pathogenicity

Mast syndrome
Hereditary spastic paraplegia
SPG21-related disorder

Criteria Provided
Conflicting Classifications

rs_141785149

3 SubmittersRCV000863190 RCV001849168 RCV003938237

NM_003119.4(SPG7):c.250T>C (p.Leu84=)

SNV
Germline

Chr16:89510556

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Conflicting Classifications

rs_138965309

4 SubmittersRCV000862674 RCV001555487 RCV001849162 RCV003955591

NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu)

SNV
Germline

Chr19:7541625

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200897068

4 SubmittersRCV000863645 RCV001577509 RCV003489945 RCV004029343

NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=)

SNV
Germline

Chr19:7556678

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
not specified
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

rs_148831568

5 SubmittersRCV000863646 RCV001549646 RCV003489946 RCV004540175

NM_001166114.2(PNPLA6):c.3252C>T (p.Thr1084=)

SNV
Germline

Chr19:7556696

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
Condition: not provided
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

rs_151001271

4 SubmittersRCV000863998 RCV001847049 RCV003424388 RCV004538212

NM_006517.5(SLC16A2):c.111T>A (p.Pro37=)

SNV
Germline

ChrX:74421748

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_762215475

2 SubmittersRCV001451935 RCV001847045

NM_014855.3(AP5Z1):c.970-5C>T

SNV
Germline

Chr7:4785517

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Inborn genetic diseases
Optic atrophy

Criteria Provided
Conflicting Classifications

rs_373671779

5 SubmittersRCV001161202 RCV001849135 RCV002536226 RCV004818067

NM_014846.4(WASHC5):c.1522-10T>A

SNV
Germline

Chr8:125059552

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

rs_200283018

3 SubmittersRCV000863939 RCV001847047 RCV003768649

NM_004820.5(CYP7B1):c.122+9C>T

SNV
Germline

Chr8:64798457

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

rs_968898541

3 SubmittersRCV001847043 RCV001466138 RCV003918355

NM_015346.4(ZFYVE26):c.4974+5G>A

SNV
Germline

Chr14:67777554

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

rs_757204134

2 SubmittersRCV000862946 RCV001328898

NM_024306.5(FA2H):c.271-8C>A

SNV
Germline

Chr16:74740123

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 35

Criteria Provided
Conflicting Classifications

rs_199610820

4 SubmittersRCV000862757 RCV001088862 RCV001117372

NM_001253852.3(AP4B1):c.49C>T (p.Leu17=)

SNV
Germline

Chr1:113904669

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_748774784

2 SubmittersRCV000868865 RCV001847080

NM_020919.4(ALS2):c.366G>A (p.Gln122=)

SNV
Germline

Chr2:201761628

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_775483404

3 SubmittersRCV000866239 RCV001142056 RCV001142055 RCV001847066

NM_014946.4(SPAST):c.441A>G (p.Glu147=)

SNV
Germline

Chr2:32087517

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_375027118

2 SubmittersRCV001143042

NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)

SNV
Germline

Chr7:100106660

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_574878636

4 SubmittersRCV000867161 RCV001816977 RCV003334024

NM_004722.4(AP4M1):c.1293C>T (p.Cys431=)

SNV
Germline

Chr7:100106813

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 50
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

rs_151301464

3 SubmittersRCV001847079 RCV002064597 RCV003930376

NM_014855.3(AP5Z1):c.636C>T (p.Thr212=)

SNV
Germline

Chr7:4784217

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_777143531

3 SubmittersRCV001847064 RCV002538965 RCV003432809

NM_014855.3(AP5Z1):c.684C>T (p.Ser228=)

SNV
Germline

Chr7:4784265

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_746349613

2 SubmittersRCV001164717

NM_014855.3(AP5Z1):c.894C>T (p.Phe298=)

SNV
Germline

Chr7:4785011

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_777233282

4 SubmittersRCV001440722 RCV001664500 RCV001847063 RCV003424394

NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=)

SNV
Germline

Chr7:4788861

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_569601905

2 SubmittersRCV001161319

NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=)

SNV
Germline

Chr7:4790699

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_543467648

2 SubmittersRCV001164944

NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=)

SNV
Germline

Chr8:125057565

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

rs_202216835

2 SubmittersRCV001158801 RCV001457212

NM_014846.4(WASHC5):c.1779C>T (p.Leu593=)

SNV
Germline

Chr8:125057652

Conflicting classifications of pathogenicity

Condition: not provided
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

rs_147434450

2 SubmittersRCV000867730 RCV003768659

NM_152269.5(MTRFR):c.234C>A (p.Thr78=)

SNV
Germline

Chr12:123253908

Conflicting classifications of pathogenicity

Spastic paraplegia
Combined oxidative phosphorylation defect type 7
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140942886

3 SubmittersRCV001406829 RCV001847054 RCV003392640

NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)

SNV
Germline

Chr13:23331047

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_370655945

6 SubmittersRCV000867623 RCV001113355 RCV001288702 RCV001847073

NM_014844.5(TECPR2):c.4014C>T (p.Gly1338=)

SNV
Germline

Chr14:102497652

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_372319066

2 SubmittersRCV000864746 RCV001847055

NM_014844.5(TECPR2):c.4149G>A (p.Thr1383=)

SNV
Germline

Chr14:102498170

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_776285112

2 SubmittersRCV000865809 RCV001847061

NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg)

SNV
Germline

Chr14:53152918

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_568294049

4 SubmittersRCV000867721 RCV001545409 RCV001847074 RCV003169144

NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr)

SNV
Germline

Chr14:67798392

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_531152715

4 SubmittersRCV000867110 RCV001119877 RCV001847071 RCV003411847

NM_015346.4(ZFYVE26):c.1159C>T (p.Leu387Phe)

SNV
Germline

Chr14:67805477

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

rs_76738736

2 SubmittersRCV000865965 RCV001115291

NM_015346.4(ZFYVE26):c.678T>C (p.Arg226=)

SNV
Germline

Chr14:67807606

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

rs_762577403

2 SubmittersRCV000869807 RCV001118449

NM_015346.4(ZFYVE26):c.606G>C (p.Arg202=)

SNV
Germline

Chr14:67807678

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

rs_187303187

2 SubmittersRCV000865502 RCV001118451

NM_144599.5(NIPA1):c.681C>T (p.Leu227=)

SNV
Germline

Chr15:22823930

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200282898

4 SubmittersRCV001117930 RCV001847070 RCV003456443

NM_025137.4(SPG11):c.5796T>C (p.His1932=)

SNV
Germline

Chr15:44583884

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

rs_375350193

5 SubmittersRCV000865368 RCV001664499 RCV003396503 RCV003965694

NM_025137.4(SPG11):c.4717C>T (p.Leu1573=)

SNV
Germline

Chr15:44592357

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_560868702

2 SubmittersRCV000868654 RCV001847077

NM_025137.4(SPG11):c.3894C>T (p.Ala1298=)

SNV
Germline

Chr15:44598372

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1352070054

2 SubmittersRCV000867101 RCV003311905

NM_025137.4(SPG11):c.2082C>T (p.Ser694=)

SNV
Germline

Chr15:44626493

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_375179506

2 SubmittersRCV000866462

NM_007347.5(AP4E1):c.3288A>G (p.Pro1096=)

SNV
Germline

Chr15:51002536

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_764886183

2 SubmittersRCV000868761 RCV001847078

NM_007347.5(AP4E1):c.3351C>T (p.Ser1117=)

SNV
Germline

Chr15:51002599

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
AP4E1-related disorder

Criteria Provided
Conflicting Classifications

rs_371690344

3 SubmittersRCV000865238 RCV001847057 RCV003975401

NM_002693.3(POLG):c.484C>T (p.Leu162=)

SNV
Germline

Chr15:89333271

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

rs_375445567

4 SubmittersRCV000867916 RCV001692304 RCV001847075 RCV003985829

NM_024306.5(FA2H):c.905C>T (p.Ala302Val)

SNV
Germline

Chr16:74716481

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_202048141

2 SubmittersRCV000870724 RCV001847084

NM_024306.5(FA2H):c.798C>T (p.Asp266=)

SNV
Germline

Chr16:74716588

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 35
FA2H-related disorder

Criteria Provided
Conflicting Classifications

rs_771402018

3 SubmittersRCV000868080 RCV001120848 RCV003908237

NM_024306.5(FA2H):c.600G>A (p.Thr200=)

SNV
Germline

Chr16:74726238

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_774718977

2 SubmittersRCV001115912 RCV001455441

NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=)

SNV
Germline

Chr19:7561541

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

rs_143060121

4 SubmittersRCV000866187 RCV001847065 RCV004538239

NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)

SNV
Germline

ChrX:153866848

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201081454

4 SubmittersRCV000865405 RCV001847058 RCV002427122 RCV003992410

NM_020919.4(ALS2):c.2979+8T>C

SNV
Germline

Chr2:201727204

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

rs_373602123

3 SubmittersRCV000866523 RCV001847067 RCV004997420

NM_020919.4(ALS2):c.2912+8C>T

SNV
Germline

Chr2:201727697

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Hereditary spastic paraplegia
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_528131651

3 SubmittersRCV001141833 RCV001141832 RCV001847072 RCV002538983

NM_014855.3(AP5Z1):c.511+6C>T

SNV
Germline

Chr7:4783466

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770095188

2 SubmittersRCV000865429 RCV002536274

NM_014855.3(AP5Z1):c.970-4G>A

SNV
Germline

Chr7:4785518

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_559842146

3 SubmittersRCV001431785 RCV002539949 RCV003432820

NM_014855.3(AP5Z1):c.2153+8G>A

SNV
Germline

Chr7:4790895

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_189564026

2 SubmittersRCV000865224

NM_015346.4(ZFYVE26):c.2756-7C>T

SNV
Germline

Chr14:67789605

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_200721800

2 SubmittersRCV000866723 RCV001847069

NM_015346.4(ZFYVE26):c.1435+8G>A

SNV
Germline

Chr14:67804093

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_779576115

3 SubmittersRCV000869037 RCV001121861 RCV001847081

NM_025137.4(SPG11):c.4162-4C>T

SNV
Germline

Chr15:44596359

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777010404

4 SubmittersRCV000865847 RCV001847062 RCV002332787

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

SNV
Germline

Chr15:44649015

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_773844127

2 SubmittersRCV000870701

NM_024306.5(FA2H):c.786+7G>A

SNV
Germline

Chr16:74718981

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_368669121

2 SubmittersRCV001120849 RCV002539009

NM_003119.4(SPG7):c.184-4T>C

SNV
Germline

Chr16:89510486

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_533778042

2 SubmittersRCV000870048

NM_003119.4(SPG7):c.759-6C>T

SNV
Germline

Chr16:89529471

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_568452581

2 SubmittersRCV000868378 RCV001847076

NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys)

SNV
Germline

Chr2:240740088

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_199998986

5 SubmittersRCV000874310 RCV001509204 RCV002454029 RCV004997438

NM_001244008.2(KIF1A):c.1032G>A (p.Thr344=)

SNV
Germline

Chr2:240774188

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_760595439

2 SubmittersRCV000875948 RCV001136993

NM_001244008.2(KIF1A):c.789G>A (p.Thr263=)

SNV
Germline

Chr2:240783748

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_368610026

3 SubmittersRCV000877213 RCV003432852 RCV001139246

NM_006070.6(TFG):c.1048G>A (p.Ala350Thr)

SNV
Germline

Chr3:100748376

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_543542721

5 SubmittersRCV000877235 RCV002227224 RCV002399965

NM_001271803.2(REEP2):c.605C>T (p.Pro202Leu)

SNV
Germline

Chr5:138445507

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 72

Criteria Provided
Conflicting Classifications

rs_111927109

2 SubmittersRCV000874616 RCV001519338

NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)

SNV
Germline

Chr7:4785546

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1045333933

3 SubmittersRCV002539197 RCV004707454

NM_014855.3(AP5Z1):c.2232G>A (p.Ala744=)

SNV
Germline

Chr7:4791193

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_534516510

2 SubmittersRCV000872280 RCV001847089

NM_007175.8(ERLIN2):c.39T>C (p.Ser13=)

SNV
Germline

Chr8:37737961

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_368986092

2 SubmittersRCV000877740 RCV001847105

NM_015046.7(SETX):c.81C>T (p.Ser27=)

SNV
Germline

Chr9:132349348

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Hereditary spastic paraplegia
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_149229231

6 SubmittersRCV000873708 RCV001288751 RCV001847094 RCV003117630 RCV004540253

NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)

SNV
Germline

Chr10:95606815

Conflicting classifications of pathogenicity

Condition: not provided
ALDH18A1-related de Barsy syndrome
Cutis laxa, autosomal dominant 3
Hereditary spastic paraplegia 9A
de Barsy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143874727

4 SubmittersRCV000876973 RCV001104016 RCV002064870 RCV002539234

NM_001776.6(ENTPD1):c.834C>T (p.Leu278=)

SNV
Germline

Chr10:95847466

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780370619

3 SubmittersRCV000875547 RCV001847100 RCV003424417

NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=)

SNV
Germline

Chr10:95866188

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_139646807

2 SubmittersRCV001423756 RCV001847095

NM_014363.6(SACS):c.1752A>G (p.Leu584=)

SNV
Germline

Chr13:23354860

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_368626712

3 SubmittersRCV000871517 RCV001277269 RCV001847087

NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=)

SNV
Germline

Chr14:53055745

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_377049663

2 SubmittersRCV001502254 RCV001847097

NM_015346.4(ZFYVE26):c.6876A>G (p.Leu2292=)

SNV
Germline

Chr14:67755161

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_773663147

2 SubmittersRCV000874378 RCV001847096

NM_015346.4(ZFYVE26):c.3036C>T (p.His1012=)

SNV
Germline

Chr14:67786217

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_551159891

2 SubmittersRCV000872401 RCV001847090

NM_015346.4(ZFYVE26):c.2097C>A (p.Ile699=)

SNV
Germline

Chr14:67798165

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_142972003

2 SubmittersRCV000871558 RCV001847088

NM_005154.5(USP8):c.1330C>T (p.Arg444Cys)

SNV
Germline

Chr15:50481592

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Autosomal recessive spastic paraplegia type 59

Criteria Provided
Conflicting Classifications

rs_148244041

2 SubmittersRCV002064746 RCV004765340

NM_003119.4(SPG7):c.33C>T (p.Leu11=)

SNV
Germline

Chr16:89508450

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_1319347094

2 SubmittersRCV000875038 RCV001411251

NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)

SNV
Germline

Chr17:5004017

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

rs_145650252

5 SubmittersRCV000871153 RCV001446098 RCV001847085 RCV002539099 RCV003920401

NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=)

SNV
Germline

Chr17:5024037

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143972053

3 SubmittersRCV000871154 RCV001847086 RCV003413694

NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=)

SNV
Germline

Chr19:7540278

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_375424103

2 SubmittersRCV000874595

NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=)

SNV
Germline

Chr19:7550532

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_757870828

2 SubmittersRCV000871833

NM_001010867.4(IBA57):c.680-5T>A

SNV
Germline

Chr1:228175117

Conflicting classifications of pathogenicity

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_577050962

2 SubmittersRCV000875016 RCV001731964

NM_024989.4(PGAP1):c.927+4T>C

SNV
Germline

Chr2:196897127

Conflicting classifications of pathogenicity

Intellectual disability, autosomal recessive 42
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201984003

4 SubmittersRCV000875541 RCV001847099 RCV002539203 RCV003432846

NM_001244008.2(KIF1A):c.3202+8G>A

SNV
Germline

Chr2:240746031

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_371620074

4 SubmittersRCV000872528 RCV001817020 RCV001511015 RCV004538314

NM_001244008.2(KIF1A):c.4834C>T (p.Leu1612=)

SNV
Germline

Chr2:240720948

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_772100288

3 SubmittersRCV000945700 RCV001412585 RCV001847115

NM_006612.6(KIF1C):c.1563C>T (p.Gly521=)

SNV
Germline

Chr17:5013724

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376123205

3 SubmittersRCV000945782 RCV001847116 RCV003424485

NM_001244008.2(KIF1A):c.3132C>T (p.Ile1044=)

SNV
Germline

Chr2:240746109

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_373045276

2 SubmittersRCV000972037 RCV001847117

NM_006070.6(TFG):c.771G>A (p.Gln257=)

SNV
Germline

Chr3:100744882

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374006808

2 SubmittersRCV000960369 RCV002066364

NM_014363.6(SACS):c.11049T>C (p.Asn3683=)

SNV
Germline

Chr13:23332827

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_773770705

5 SubmittersRCV000973335 RCV001664583 RCV001832214 RCV001847118 RCV003953325

NM_002361.4(MAG):c.971-5C>T

SNV
Germline

Chr19:35302443

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 75
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200576970

2 SubmittersRCV001495724 RCV002539288

NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys)

SNV
Germline

Chr8:38234399

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141644282

5 SubmittersRCV000909830 RCV001847110 RCV003438578 RCV004028608

NM_020944.3(GBA2):c.1428C>T (p.Tyr476=)

SNV
Germline

Chr9:35739782

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_781075990

2 SubmittersRCV001847107 RCV003586237

NM_014363.6(SACS):c.1905G>A (p.Leu635=)

SNV
Germline

Chr13:23354707

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_771581634

2 SubmittersRCV000898794 RCV001847108

NM_001244008.2(KIF1A):c.799-4G>A

SNV
Germline

Chr2:240783113

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_759945798

3 SubmittersRCV000899490 RCV001460846 RCV002416110

NM_001244008.2(KIF1A):c.2280T>C (p.Phe760=)

SNV
Germline

Chr2:240760829

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1575587120

2 SubmittersRCV001409971 RCV001847113

NM_152269.5(MTRFR):c.246G>A (p.Val82=)

SNV
Germline

Chr12:123253920

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 7
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1593287730

2 SubmittersRCV000924460 RCV001847112

NM_014363.6(SACS):c.2148C>T (p.His716=)

SNV
Germline

Chr13:23353822

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_780789330

2 SubmittersRCV001397544 RCV001847111

NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=)

SNV
Germline

Chr2:240722537

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_747267404

4 SubmittersRCV000928860 RCV001818893 RCV003438595 RCV004738087

NM_015346.4(ZFYVE26):c.6019A>G (p.Ser2007Gly)

SNV
Germline

Chr14:67762812

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

rs_150497301

2 SubmittersRCV000981783 RCV001116682

NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu)

SNV
Germline

Chr17:5007059

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148619121

3 SubmittersRCV001452858 RCV001847121 RCV002549567

NM_014363.6(SACS):c.21-5C>T

SNV
Germline

Chr13:23375274

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_565378672

2 SubmittersRCV000981416 RCV001847120

NM_001160148.2(DDHD1):c.2444G>A (p.Arg815Lys)

SNV
Germline

Chr14:53051921

Likely pathogenic

Hereditary spastic paraplegia 28

No Assertion Criteria Provided

rs_147133475

1 SubmittersRCV000985169

NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)

SNV
Germline

Chr15:44565928

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1595817021

3 SubmittersRCV000984493 RCV002067562

NM_001244008.2(KIF1A):c.2754T>G (p.Asp918Glu)

SNV
Germline

Chr2:240757423

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143816642

3 SubmittersRCV000987073 RCV002434373 RCV004693424

NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg)

SNV
Unknown

Chr2:240783106

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_1575624664

1 SubmittersRCV000987074

NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro)

SNV
Unknown

Chr2:240786473

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_1575631836

1 SubmittersRCV000987075

NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp)

SNV
Germline

Chr2:240788181

Likely pathogenic

Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Single Submitter

rs_1575637048

2 SubmittersRCV000987076 RCV004726754

NM_014946.4(SPAST):c.1037G>T (p.Gly346Val)

SNV
Unknown

Chr2:32116151

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1573121594

1 SubmittersRCV000986613

NM_014946.4(SPAST):c.1174-2A>T

SNV
Unknown

Chr2:32128406

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553317018

1 SubmittersRCV000986615

NM_014946.4(SPAST):c.1496G>T (p.Arg499Leu)

SNV
Unknown

Chr2:32141906

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_878854991

1 SubmittersRCV000986617

NM_014946.4(SPAST):c.1838A>G (p.Asp613Gly)

SNV
Unknown

Chr2:32154483

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553321269

1 SubmittersRCV000986618

NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)

SNV
Germline

Chr2:32154486

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573186691

4 SubmittersRCV000986619 RCV001847122

NM_015915.5(ATL1):c.488T>C (p.Val163Ala)

SNV
Germline

Chr14:50591605

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Single Submitter

rs_1595600383

4 SubmittersRCV000989218 RCV001580004

NM_015915.5(ATL1):c.1223T>C (p.Met408Thr)

SNV
Germline

Chr14:50628134

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1595625113

3 SubmittersRCV000989219 RCV001585898

NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter)

SNV
Germline

Chr14:67780282

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_763869212

2 SubmittersRCV000989240 RCV002549723

NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter)

SNV
Germline

Chr14:67782793

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1594912625

2 SubmittersRCV000989242 RCV002549724

NM_025137.4(SPG11):c.4434+1G>A

SNV
Germline

Chr15:44596082

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567148391

4 SubmittersRCV000989300 RCV001311028

NM_025137.4(SPG11):c.2048G>A (p.Trp683Ter)

SNV
Unknown

Chr15:44628688

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1595898030

1 SubmittersRCV000989301

NM_025137.4(SPG11):c.334G>T (p.Glu112Ter)

SNV
Unknown

Chr15:44660540

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1595940058

1 SubmittersRCV000989304

NM_003119.4(SPG7):c.1997G>T (p.Gly666Val)

SNV
Unknown

Chr16:89553854

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_1597665080

1 SubmittersRCV000989666

NM_001271803.2(REEP2):c.696+2T>G

SNV
Germline

Chr5:138445600

Likely pathogenic

Hereditary spastic paraplegia 72

Criteria Provided
Single Submitter

rs_1580980701

1 SubmittersRCV000991434

NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr7:4784302

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Multiple Submitters
No Conflicts

rs_751778396

2 SubmittersRCV000991543 RCV002549762

NM_015915.5(ATL1):c.1040T>C (p.Met347Thr)

SNV
Germline

Chr14:50621892

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

rs_1595620366

3 SubmittersRCV000993058 RCV003311931

NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)

SNV
Germline

Chr16:89553883

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_72547553

2 SubmittersRCV000993073 RCV002549827

NM_005619.5(RTN2):c.1476C>G (p.Pro492=)

SNV
Germline

Chr19:45488492

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_748824542

3 SubmittersRCV000992762 RCV001847124 RCV001399634

NM_014946.4(SPAST):c.1174-1G>C

SNV
Germline

Chr2:32128407

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553317024

2 SubmittersRCV000993060 RCV003523053

NM_014946.4(SPAST):c.1413+1G>A

SNV
Germline

Chr2:32136969

Pathogenic

Condition: not provided
Tip-toe gait
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318276

6 SubmittersRCV000993066 RCV001823007 RCV002471005

NM_014946.4(SPAST):c.1617-2A>G

SNV
Germline

Chr2:32144935

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553319524

2 SubmittersRCV000993067 RCV001223606

NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=)

SNV
Germline

Chr2:240725291

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_1398284516

3 SubmittersRCV000997710 RCV002354911 RCV002549979

NM_001244008.2(KIF1A):c.831C>T (p.Thr277=)

SNV
Germline

Chr2:240783077

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1575624578

3 SubmittersRCV000997714 RCV003769367 RCV002409329

NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter)

SNV
Germline

Chr7:4785045

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Multiple Submitters
No Conflicts

rs_748724870

2 SubmittersRCV000998757 RCV001785749

NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter)

SNV
Germline

Chr8:38238155

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 54

Criteria Provided
Conflicting Classifications

rs_377293194

3 SubmittersRCV000999025 RCV001858893

NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)

SNV
Germline

Chr13:23336726

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_762896797

6 SubmittersRCV000995035 RCV001115057 RCV001242408 RCV001847126

NM_015346.4(ZFYVE26):c.5321-3C>T

SNV
Germline

Chr14:67772213

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_376234357

4 SubmittersRCV001119667 RCV000995199 RCV001858809

NM_007347.5(AP4E1):c.822A>G (p.Gln274=)

SNV
Germline

Chr15:50930924

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_991693986

4 SubmittersRCV000995355 RCV001819705 RCV001847128 RCV001217167

NM_003119.4(SPG7):c.1599G>A (p.Ala533=)

SNV
Germline

Chr16:89548049

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

rs_561746823

3 SubmittersRCV000996410 RCV001499192 RCV001664597

NM_001199753.2(CPT1C):c.1308C>T (p.Tyr436=)

SNV
Germline

Chr19:49706378

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 73

Criteria Provided
Conflicting Classifications

rs_138872867

2 SubmittersRCV000996968 RCV001493914

NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)

SNV
Germline

Chr2:32143352

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1553319290

3 SubmittersRCV000995883 RCV001664596

NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu)

SNV
Germline

Chr8:64604824

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_770065565

2 SubmittersRCV000995754 RCV002549917

NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys)

SNV
Germline

Chr16:74714190

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_758814013

3 SubmittersRCV000995543 RCV002068722 RCV002550680

NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)

SNV
Germline

Chr16:74716418

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774131656

3 SubmittersRCV000995544 RCV003588705 RCV004761855

NM_003119.4(SPG7):c.1552+1G>T

SNV
Germline

Chr16:89546761

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_141644720

10 SubmittersRCV000995648 RCV001847130 RCV001091056

NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val)

SNV
Germline

Chr19:7550336

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome

Criteria Provided
Conflicting Classifications

rs_568356836

3 SubmittersRCV000995612 RCV001644886

NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter)

SNV
Germline

Chr10:103101286

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

rs_764453448

2 SubmittersRCV001030784

NM_001244008.2(KIF1A):c.3816+8C>T

SNV
Germline

Chr2:240740290

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

rs_776328472

2 SubmittersRCV002068792 RCV001002396

NM_020631.6(PLEKHG5):c.773C>T (p.Pro258Leu)

SNV
Germline

Chr1:6473273

Likely pathogenic

Hereditary spastic paraplegia

No Assertion Criteria Provided

rs_910474236

1 SubmittersRCV001027499

NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu)

SNV
Germline

Chr14:50628127

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_1595625104

1 SubmittersRCV001027705

NM_001244008.2(KIF1A):c.4869G>A (p.Arg1623=)

SNV
Germline

Chr2:240719926

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372521322

3 SubmittersRCV001035350 RCV004693447 RCV002337082

NM_001244008.2(KIF1A):c.4753A>T (p.Met1585Leu)

SNV
Germline

Chr2:240721029

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_1203273192

2 SubmittersRCV001048273 RCV003333124 RCV003333125 RCV003333123

NM_001244008.2(KIF1A):c.4649G>A (p.Arg1550Gln)

SNV
Germline

Chr2:240722472

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_952804990

2 SubmittersRCV001060043 RCV002339298

NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln)

SNV
Germline

Chr2:240722482

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_537893174

2 SubmittersRCV001037645 RCV004792639

NM_001244008.2(KIF1A):c.4111G>A (p.Ala1371Thr)

SNV
Germline

Chr2:240726837

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_751798253

2 SubmittersRCV001064017 RCV003132200

NM_001244008.2(KIF1A):c.3886C>T (p.Arg1296Cys)

SNV
Germline

Chr2:240740073

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201684653

2 SubmittersRCV001048447 RCV002451196

NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn)

SNV
Germline

Chr2:240741315

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200257048

5 SubmittersRCV001066243 RCV001759837 RCV002554486

NM_001244008.2(KIF1A):c.3385C>T (p.Arg1129Cys)

SNV
Germline

Chr2:240745507

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774779281

2 SubmittersRCV001061272 RCV002451260

NM_001244008.2(KIF1A):c.3287G>A (p.Arg1096His)

SNV
Germline

Chr2:240745825

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_780970120

3 SubmittersRCV001035265 RCV002445206 RCV003339431

NM_001244008.2(KIF1A):c.3254A>G (p.Asp1085Gly)

SNV
Germline

Chr2:240745858

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_550429072

2 SubmittersRCV001069667 RCV004761923

NM_001244008.2(KIF1A):c.1266C>T (p.Arg422=)

SNV
Germline

Chr2:240771046

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_190195227

4 SubmittersRCV001063961 RCV001136992 RCV001551942 RCV004536125

NM_001244008.2(KIF1A):c.1021A>G (p.Thr341Ala)

SNV
Germline

Chr2:240774199

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_2052419658

3 SubmittersRCV001069855 RCV001268380 RCV004768854

NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)

SNV
Germline

Chr2:240797649

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_2056551129

1 SubmittersRCV001071735

NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)

SNV
Germline

Chr2:32114667

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140094231

3 SubmittersRCV001047464 RCV001585943

NM_014946.4(SPAST):c.926G>A (p.Arg309His)

SNV
Germline

Chr2:32115757

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202152835

2 SubmittersRCV001060560 RCV002275218

NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro)

SNV
Germline

Chr2:32116154

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1678825469

2 SubmittersRCV001060706 RCV001268906

NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly)

SNV
Germline

Chr2:32116181

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553315345

1 SubmittersRCV001043692

NM_014946.4(SPAST):c.1159G>A (p.Gly387Arg)

SNV
Germline

Chr2:32127008

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1679217117

1 SubmittersRCV001050999

NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr2:32136945

Pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1679556566

2 SubmittersRCV001052644 RCV001847137

NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro)

SNV
Germline

Chr2:32143400

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553319317

1 SubmittersRCV001053054

NM_014946.4(SPAST):c.1785C>G (p.Ser595Arg)

SNV
Germline

Chr2:32154430

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_145206063

1 SubmittersRCV001063727

NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter)

SNV
Germline

Chr2:86252029

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_138656911

2 SubmittersRCV001047463 RCV004720051

NM_001271803.2(REEP2):c.119T>G (p.Met40Arg)

SNV
Germline

Chr5:138441398

Pathogenic

Hereditary spastic paraplegia 72

Criteria Provided
Multiple Submitters
No Conflicts

rs_1763822813

3 SubmittersRCV001071608

NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val)

SNV
Germline

Chr8:125049053

Conflicting classifications of pathogenicity

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146623998

3 SubmittersRCV001035267 RCV001163719 RCV002264144

NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys)

SNV
Germline

Chr8:37740444

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1802811311

2 SubmittersRCV001065814 RCV001391375

NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr)

SNV
Germline

Chr9:35740050

Conflicting classifications of pathogenicity

Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 46

Criteria Provided
Conflicting Classifications

rs_145802357

3 SubmittersRCV001046919 RCV003160358 RCV001336003

NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)

SNV
Germline

Chr10:103093199

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Multiple Submitters
No Conflicts

rs_769873284

2 SubmittersRCV001035006

NM_015915.5(ATL1):c.716G>T (p.Arg239Leu)

SNV
Germline

Chr14:50613344

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_1241621325

1 SubmittersRCV001065616

NM_015915.5(ATL1):c.1247G>A (p.Arg416His)

SNV
Germline

Chr14:50628158

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1395551564

5 SubmittersRCV001064153 RCV001593242 RCV002393313

NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)

SNV
Germline

Chr15:44585746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_141011688

3 SubmittersRCV001759961 RCV002468119 RCV002468120 RCV001045168

NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)

SNV
Germline

Chr15:44589285

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_371716779

4 SubmittersRCV001759744 RCV002339213 RCV001042695 RCV002468115 RCV002468114

NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)

SNV
Germline

Chr15:44600595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201902382

4 SubmittersRCV001065139 RCV002468141 RCV001287997 RCV002339328 RCV002468140

NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)

SNV
Germline

Chr15:44651563

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

rs_139019255

5 SubmittersRCV001063652 RCV001862795 RCV002468135 RCV002468136 RCV002393309

NM_025137.4(SPG11):c.1152G>A (p.Trp384Ter)

SNV
Germline

Chr15:44651795

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2084787275

1 SubmittersRCV001050015

NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)

SNV
Germline

Chr15:44651826

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_144403346

3 SubmittersRCV001759765 RCV002468117 RCV002468118 RCV001045167

NM_001166114.2(PNPLA6):c.898C>A (p.Pro300Thr)

SNV
Germline

Chr19:7541025

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_1057518936

1 SubmittersRCV001059737

NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr)

SNV
Germline

Chr19:7557191

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_1236012815

1 SubmittersRCV001059736

NM_001166114.2(PNPLA6):c.3406G>A (p.Ala1136Thr)

SNV
Germline

Chr19:7558858

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765257753

2 SubmittersRCV001071909 RCV003229876

NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala)

SNV
Germline

Chr19:7559066

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_1211079280

1 SubmittersRCV001049696

NM_025137.4(SPG11):c.1891+1G>T

SNV
Germline

Chr15:44629232

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_532072204

2 SubmittersRCV001057142 RCV003155347

NM_016630.7(SPG21):c.452+2T>C

SNV
Germline

Chr15:64974600

Likely pathogenic

Mast syndrome
Hereditary spastic paraplegia
Condition: not provided
SPG21-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_755390093

4 SubmittersRCV001039286 RCV001847135 RCV003153900 RCV004757363

NM_003119.4(SPG7):c.861+6T>C

SNV
Germline

Chr16:89529585

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_765178985

2 SubmittersRCV001039955

NM_025137.4(SPG11):c.3145+1G>T

SNV
Germline

Chr15:44613429

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_956922949

1 SubmittersRCV001041586

NM_001478.5(B4GALNT1):c.532-2A>G

SNV
Germline

Chr12:57630334

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 26

Criteria Provided
Multiple Submitters
No Conflicts

rs_1885117995

2 SubmittersRCV001040708 RCV002051912

NM_001166114.2(PNPLA6):c.1608+2T>C

SNV
Germline

Chr19:7543086

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_2023231095

1 SubmittersRCV001041912

NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)

SNV
Germline

Chr2:240763221

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2050749062

2 SubmittersRCV001078153

NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)

SNV
Germline

Chr2:240724015

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_572662012

2 SubmittersRCV001078154

NM_014946.4(SPAST):c.1173G>A (p.Leu391=)

SNV
Germline

Chr2:32127022

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_1679218212

4 SubmittersRCV001090862 RCV001391505

NM_014846.4(WASHC5):c.2580C>T (p.Leu860=)

SNV
Germline

Chr8:125044623

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

rs_375214976

3 SubmittersRCV001092148 RCV001847153 RCV002069609

NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)

SNV
Germline

Chr14:50628137

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

rs_2039539644

4 SubmittersRCV001090531 RCV001847151 RCV003502587

NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter)

SNV
Germline

Chr15:44563298

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_778305085

3 SubmittersRCV001092494 RCV001873456

NM_025137.4(SPG11):c.1603-5T>C

SNV
Germline

Chr15:44633642

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_2084149728

2 SubmittersRCV001092498 RCV003600398

NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)

SNV
Germline

Chr15:44663393

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_957519261

4 SubmittersRCV001092502 RCV001862713

NM_002693.3(POLG):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr15:89329098

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_753416225

7 SubmittersRCV001093440 RCV001847155 RCV003155359 RCV002555968 RCV002554873

NM_003119.4(SPG7):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr16:89526348

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147673636

5 SubmittersRCV001090550 RCV001847152 RCV001228310 RCV004031224

NM_006612.6(KIF1C):c.714G>A (p.Ser238=)

SNV
Germline

Chr17:5002836

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_368886383

3 SubmittersRCV001093147 RCV001847154 RCV001312503

NM_001166114.2(PNPLA6):c.316-2A>T

SNV
Germline

Chr19:7536447

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_148045000

5 SubmittersRCV001092939 RCV002555963 RCV004596409 RCV004813755

NM_001385875.1(ZFYVE27):c.805-5C>T

SNV
Germline

Chr10:97751386

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 33
not specified

Criteria Provided
Conflicting Classifications

rs_535449776

2 SubmittersRCV001108096 RCV004032132

NM_004984.4(KIF5A):c.152G>A (p.Arg51His)

SNV
Germline

Chr12:57563461

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Inborn genetic diseases
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

rs_773336059

5 SubmittersRCV001111425 RCV002069798 RCV002298873 RCV003246695 RCV004547987

NM_004984.4(KIF5A):c.1476G>A (p.Glu492=)

SNV
Germline

Chr12:57572174

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1227040638

2 SubmittersRCV001109180 RCV003769113

NM_004984.4(KIF5A):c.2466G>C (p.Gly822=)

SNV
Germline

Chr12:57578270

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_759472256

2 SubmittersRCV001113504 RCV002556213

NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser)

SNV
Germline

Chr12:57581913

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_371548640

3 SubmittersRCV002264190 RCV001114930 RCV001856513

NM_014363.6(SACS):c.*821A>G

SNV
Germline

Chr13:23329315

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145184122

3 SubmittersRCV001847160 RCV001114619 RCV003326541

NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)

SNV
Germline

Chr13:23336482

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747676277

11 SubmittersRCV003387965 RCV001115054 RCV001247856 RCV001847161 RCV001269831

NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)

SNV
Germline

Chr13:23339861

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_143144795

4 SubmittersRCV001112285 RCV001523475 RCV001847159

NM_004984.4(KIF5A):c.2300+7G>A

SNV
Germline

Chr12:57576869

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_763362184

2 SubmittersRCV001111514 RCV002069799

NM_015915.5(ATL1):c.1120-15C>T

SNV
Germline

Chr14:50628016

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

rs_771568686

2 SubmittersRCV001112391

NM_015346.4(ZFYVE26):c.6540C>T (p.Tyr2180=)

SNV
Germline

Chr14:67761414

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_142224979

2 SubmittersRCV001121562 RCV001487491

NM_015346.4(ZFYVE26):c.5796C>T (p.Pro1932=)

SNV
Germline

Chr14:67766442

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2039062513

2 SubmittersRCV001118124 RCV001436457

NM_015346.4(ZFYVE26):c.1617G>A (p.Ala539=)

SNV
Germline

Chr14:67802101

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_771594278

2 SubmittersRCV001119879 RCV001465280

NM_015346.4(ZFYVE26):c.1161C>G (p.Leu387=)

SNV
Germline

Chr14:67805475

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_60184489

2 SubmittersRCV001115290 RCV001416999

NM_144599.5(NIPA1):c.267G>A (p.Ala89=)

SNV
Germline

Chr15:22812203

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

rs_751391752

2 SubmittersRCV001117931

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

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

Criteria Provided
Conflicting Classifications

rs_376245210

3 SubmittersRCV001120687 RCV002468175 RCV002468176

NM_025137.4(SPG11):c.6283T>C (p.Leu2095=)

SNV
Germline

Chr15:44572743

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_2082448894

2 SubmittersRCV001115765

NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)

SNV
Germline

Chr15:44584082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_570599267

3 SubmittersRCV001118824 RCV002468163 RCV002468164

NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)

SNV
Germline

Chr15:44585717

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_748057725

2 SubmittersRCV001120788

NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)

SNV
Germline

Chr15:44596893

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_564171625

4 SubmittersRCV001115849 RCV001847162 RCV004032197

NM_025137.4(SPG11):c.3138C>T (p.Asn1046=)

SNV
Germline

Chr15:44613437

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_2083512162

2 SubmittersRCV001118921

NM_025137.4(SPG11):c.3132C>G (p.Ala1044=)

SNV
Germline

Chr15:44613443

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_770666794

2 SubmittersRCV001120882

NM_025137.4(SPG11):c.1182G>A (p.Gly394=)

SNV
Germline

Chr15:44651765

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_199968487

2 SubmittersRCV001120995

NM_025137.4(SPG11):c.39C>T (p.Ala13=)

SNV
Germline

Chr15:44663609

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_759646328

2 SubmittersRCV001119110

NM_003119.4(SPG7):c.763C>T (p.Leu255=)

SNV
Germline

Chr16:89529481

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_2058311848

2 SubmittersRCV001116671

NM_003119.4(SPG7):c.1236G>A (p.Ala412=)

SNV
Germline

Chr16:89532548

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_201129878

2 SubmittersRCV001118114

NM_003119.4(SPG7):c.1266C>T (p.Ser422=)

SNV
Germline

Chr16:89532578

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_767857665

2 SubmittersRCV001118116

NM_003119.4(SPG7):c.2274C>T (p.Ile758=)

SNV
Germline

Chr16:89556979

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_147302322

2 SubmittersRCV001118226

NM_003119.4(SPG7):c.2370G>A (p.Glu790=)

SNV
Germline

Chr16:89557075

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_936520999

2 SubmittersRCV001118228 RCV001530872

NM_003119.4(SPG7):c.2373G>A (p.Pro791=)

SNV
Germline

Chr16:89557078

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_768453376

2 SubmittersRCV001118229

NM_015346.4(ZFYVE26):c.5222-12C>G

SNV
Germline

Chr14:67775126

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_764707646

2 SubmittersRCV001121654 RCV002069976

NM_015346.4(ZFYVE26):c.2401+13C>G

SNV
Germline

Chr14:67794158

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

rs_77104978

3 SubmittersRCV001551743 RCV002069912 RCV001118337

NM_015346.4(ZFYVE26):c.1272-10T>C

SNV
Germline

Chr14:67804274

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773153713

3 SubmittersRCV001121863 RCV001485589 RCV002291723

NM_015346.4(ZFYVE26):c.364-12T>C

SNV
Germline

Chr14:67807932

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_757340973

2 SubmittersRCV001119969 RCV002069950

NM_025137.4(SPG11):c.7151+11A>C

SNV
Germline

Chr15:44564536

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_779150349

2 SubmittersRCV001118749

NM_003119.4(SPG7):c.619-7C>A

SNV
Germline

Chr16:89526322

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_779835775

2 SubmittersRCV001121555

NM_001166114.2(PNPLA6):c.186C>G (p.Val62=)

SNV
Germline

Chr19:7535974

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759997114

2 SubmittersRCV001131326 RCV003405335

NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=)

SNV
Germline

Chr19:7536264

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_554346890

2 SubmittersRCV001134322

NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=)

SNV
Germline

Chr19:7540215

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_200521839

2 SubmittersRCV001135796

NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=)

SNV
Germline

Chr19:7540991

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_369082833

2 SubmittersRCV001135797

NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=)

SNV
Germline

Chr19:7550068

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_780340075

2 SubmittersRCV001134444

NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=)

SNV
Germline

Chr19:7553891

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_1030480370

2 SubmittersRCV001128917

NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=)

SNV
Germline

Chr19:7557226

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_770303471

2 SubmittersRCV001132625

NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=)

SNV
Germline

Chr19:7560674

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

rs_146121276

4 SubmittersRCV001129027 RCV001847166 RCV004545076

NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=)

SNV
Germline

Chr19:7561284

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_535388759

2 SubmittersRCV001131716

NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu)

SNV
Germline

Chr19:7535919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified

Criteria Provided
Conflicting Classifications

rs_372169542

3 SubmittersRCV001131325 RCV004587048

NM_001166114.2(PNPLA6):c.1608+11C>T

SNV
Germline

Chr19:7543095

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_368627125

3 SubmittersRCV001134442 RCV004813789

NM_001166114.2(PNPLA6):c.2937-4G>A

SNV
Germline

Chr19:7555603

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_1178206789

2 SubmittersRCV001131580

NM_001166114.2(PNPLA6):c.3914-8G>A

SNV
Germline

Chr19:7561200

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified

Criteria Provided
Conflicting Classifications

rs_374861157

3 SubmittersRCV001129031 RCV003235474

NM_002156.5(HSPD1):c.1029A>G (p.Gly343=)

SNV
Germline

Chr2:197489188

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1433866863

2 SubmittersRCV001140947 RCV001464884

NM_001244008.2(KIF1A):c.*2403G>A

SNV
Germline

Chr2:240714961

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_115916702

2 SubmittersRCV001143148 RCV003433032

NM_001244008.2(KIF1A):c.*1960G>T

SNV
Germline

Chr2:240715404

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_184324379

2 SubmittersRCV001136583 RCV003438666

NM_001244008.2(KIF1A):c.*1418G>A

SNV
Germline

Chr2:240715946

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_115877951

2 SubmittersRCV001141410 RCV003438673

NM_001244008.2(KIF1A):c.*1241G>T

SNV
Germline

Chr2:240716123

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_114566813

2 SubmittersRCV001143253 RCV003438676

NM_001244008.2(KIF1A):c.4794A>T (p.Leu1598=)

SNV
Germline

Chr2:240720988

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_753060457

3 SubmittersRCV001136785 RCV001819839 RCV003769647

NM_001244008.2(KIF1A):c.4717G>A (p.Val1573Ile)

SNV
Germline

Chr2:240721833

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_1401684116

3 SubmittersRCV001136788 RCV001847168 RCV001218826

NM_001244008.2(KIF1A):c.4332G>T (p.Arg1444=)

SNV
Germline

Chr2:240723545

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_776552179

2 SubmittersRCV001139022 RCV002070638

NM_001244008.2(KIF1A):c.3911G>A (p.Arg1304Gln)

SNV
Germline

Chr2:240737159

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_762988579

3 SubmittersRCV001141639 RCV001836966 RCV002032348

NM_001244008.2(KIF1A):c.3009C>T (p.Gly1003=)

SNV
Germline

Chr2:240747290

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_191727100

2 SubmittersRCV001139123 RCV002070642

NM_001244008.2(KIF1A):c.2547C>T (p.Phe849=)

SNV
Germline

Chr2:240758395

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_2050120947

2 SubmittersRCV001141746 RCV003769677

NM_001244008.2(KIF1A):c.2331C>G (p.Pro777=)

SNV
Germline

Chr2:240760778

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_201495091

2 SubmittersRCV001141750 RCV002557011

NM_001244008.2(KIF1A):c.1271C>A (p.Ala424Asp)

SNV
Germline

Chr2:240771041

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_780212657

2 SubmittersRCV001136991 RCV001300601

NM_014946.4(SPAST):c.30G>A (p.Lys10=)

SNV
Germline

Chr2:32063861

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_768928614

3 SubmittersRCV001141198 RCV001847171

NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)

SNV
Germline

Chr2:32063960

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_542793579

3 SubmittersRCV001141200

NM_014946.4(SPAST):c.137A>G (p.His46Arg)

SNV
Germline

Chr2:32063968

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778952334

3 SubmittersRCV001141201 RCV004726901

NM_014946.4(SPAST):c.626C>T (p.Thr209Met)

SNV
Germline

Chr2:32098835

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_537855621

3 SubmittersRCV001143044 RCV002557045

NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)

SNV
Germline

Chr2:32115709

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
not specified

Criteria Provided
Conflicting Classifications

rs_773193617

4 SubmittersRCV001138298 RCV001815024

NM_002156.5(HSPD1):c.175-8T>C

SNV
Germline

Chr2:197497400

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_772029212

2 SubmittersRCV001138051 RCV003588720

NM_001244008.2(KIF1A):c.864+11C>T

SNV
Germline

Chr2:240783033

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_377722824

2 SubmittersRCV001139245 RCV002070649

NM_014855.3(AP5Z1):c.351C>T (p.Ser117=)

SNV
Germline

Chr7:4781739

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_374912181

2 SubmittersRCV001159696

NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val)

SNV
Germline

Chr7:4783341

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372539355

5 SubmittersRCV001159697 RCV002473209 RCV004639486

NM_014855.3(AP5Z1):c.540G>A (p.Leu180=)

SNV
Germline

Chr7:4783717

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_768017182

2 SubmittersRCV001161105

NM_014855.3(AP5Z1):c.660A>G (p.Thr220=)

SNV
Germline

Chr7:4784241

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756140557

3 SubmittersRCV001162661 RCV003433064

NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=)

SNV
Germline

Chr7:4787678

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_558636596

2 SubmittersRCV001162758

NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=)

SNV
Germline

Chr7:4789864

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

rs_773950276

4 SubmittersRCV001161321 RCV001847175 RCV004756183

NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=)

SNV
Germline

Chr7:4789909

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_774921196

3 SubmittersRCV001162872 RCV001847178

NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=)

SNV
Germline

Chr7:4790708

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_375030531

2 SubmittersRCV001164945

NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=)

SNV
Germline

Chr7:4790885

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_1781745482

2 SubmittersRCV001160024

NM_014855.3(AP5Z1):c.*150G>A

SNV
Germline

Chr7:4791535

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_186823399

2 SubmittersRCV001165058 RCV002462336

NM_014855.3(AP5Z1):c.*856G>A

SNV
Germline

Chr7:4792241

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_148032002

2 SubmittersRCV001158462 RCV001847173

NM_014855.3(AP5Z1):c.*1594C>A

SNV
Germline

Chr7:4792979

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_138654444

2 SubmittersRCV001161778 RCV001847176

NM_014855.3(AP5Z1):c.*2004C>T

SNV
Germline

Chr7:4793389

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_143513418

2 SubmittersRCV001165406 RCV001847181

NM_014855.3(AP5Z1):c.*2197A>G

SNV
Germline

Chr7:4793582

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_187056670

2 SubmittersRCV001158678 RCV001847174

NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=)

SNV
Germline

Chr8:125032294

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

rs_749478956

2 SubmittersRCV001163429 RCV002559566

NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala)

SNV
Germline

Chr8:125037300

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

rs_775752911

2 SubmittersRCV001163431 RCV001882521

NM_004820.5(CYP7B1):c.830A>C (p.His277Pro)

SNV
Germline

Chr8:64615711

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_145521868

3 SubmittersRCV001161938 RCV002557381 RCV003588721

NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)

SNV
Germline

Chr8:64615784

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Condition: not provided
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200328073

4 SubmittersRCV001161939 RCV003482331 RCV002071008 RCV003163351

NM_004820.5(CYP7B1):c.177C>A (p.Val59=)

SNV
Germline

Chr8:64624485

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_763202430

2 SubmittersRCV001163459 RCV001468792

NM_004820.5(CYP7B1):c.-144C>G

SNV
Germline

Chr8:64798731

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_191075257

2 SubmittersRCV001158840 RCV001593297

NM_014855.3(AP5Z1):c.1455-12C>T

SNV
Germline

Chr7:4788142

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_1038026978

2 SubmittersRCV001164826

NM_014855.3(AP5Z1):c.1707+14C>T

SNV
Germline

Chr7:4788965

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_759055397

2 SubmittersRCV001161320

NM_014855.3(AP5Z1):c.1806-15C>T

SNV
Germline

Chr7:4790444

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_201620155

2 SubmittersRCV001162873

NM_014855.3(AP5Z1):c.1938+11C>T

SNV
Germline

Chr7:4790602

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_201888478

2 SubmittersRCV001164942

NM_014846.4(WASHC5):c.2199+14A>G

SNV
Germline

Chr8:125050550

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

rs_754889043

2 SubmittersRCV001163721 RCV002558575

NM_015046.7(SETX):c.*254C>T

SNV
Germline

Chr9:132263985

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_11545230

3 SubmittersRCV001167068 RCV001167067 RCV001847182

NM_015046.7(SETX):c.6435C>T (p.Ile2145=)

SNV
Germline

Chr9:132283375

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Amyotrophic lateral sclerosis type 4
SETX-related disorder
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_374110190

5 SubmittersRCV001167195 RCV001760116 RCV001167770 RCV004538386 RCV002068024 RCV001847183

NM_015046.7(SETX):c.5271A>G (p.Glu1757=)

SNV
Germline

Chr9:132326327

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
SETX-related disorder
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200499115

7 SubmittersRCV001486121 RCV001167852 RCV001167851 RCV001664719 RCV004545094 RCV001847184 RCV001700982

NM_001199753.2(CPT1C):c.899G>A (p.Arg300His)

SNV
Germline

Chr19:49705233

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73

Criteria Provided
Conflicting Classifications

rs_753309074

2 SubmittersRCV001169979

NM_024306.5(FA2H):c.620C>T (p.Thr207Met)

SNV
Germline

Chr16:74719154

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_372445274

4 SubmittersRCV001195534 RCV001542494 RCV001859178

NM_014946.4(SPAST):c.519A>G (p.Arg173=)

SNV
Germline

Chr2:32089538

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_1677627735

2 SubmittersRCV001198739

NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter)

SNV
Unknown

Chr14:67782999

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_2039544464

1 SubmittersRCV001196685

NM_001253852.3(AP4B1):c.1510+2T>C

SNV
Unknown

Chr1:113896256

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

rs_1667449135

1 SubmittersRCV001199093

NM_001253852.3(AP4B1):c.114-2A>G

SNV
Germline

Chr1:113902864

Pathogenic

Hereditary spastic paraplegia 47
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_879255396

4 SubmittersRCV001195992 RCV002451409 RCV001849481

NM_001244008.2(KIF1A):c.3640+12C>T

SNV
Germline

Chr2:240742917

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_1403885809

2 SubmittersRCV001196026 RCV002069277

NM_001244008.2(KIF1A):c.3064-13C>T

SNV
Germline

Chr2:240746190

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_779347174

2 SubmittersRCV001198619 RCV002071853

NM_014946.4(SPAST):c.870+1G>T

SNV
Germline

Chr2:32114826

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553314978

4 SubmittersRCV001198064 RCV004697065

NM_025137.4(SPG11):c.7152-6A>G

SNV
Germline

Chr15:44563307

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_2082233766

2 SubmittersRCV001197028

NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro)

SNV
Germline

Chr14:67790688

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

rs_2039789225

2 SubmittersRCV001200049 RCV002560270

NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)

SNV
Germline

Chr16:89553093

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_368541637

6 SubmittersRCV001847187 RCV001200106 RCV001542601

NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys)

SNV
Germline

Chr2:240719820

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764970503

3 SubmittersRCV001221580 RCV001334236 RCV002281173

NM_001244008.2(KIF1A):c.4880C>T (p.Pro1627Leu)

SNV
Germline

Chr2:240719915

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_763752868

2 SubmittersRCV001215834 RCV002339564

NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp)

SNV
Germline

Chr2:240720936

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368124753

4 SubmittersRCV001220289 RCV001252291 RCV001587244

NM_001244008.2(KIF1A):c.2357C>T (p.Thr786Met)

SNV
Germline

Chr2:240760752

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

rs_766807173

3 SubmittersRCV001215646 RCV003339536 RCV004789479

NM_014946.4(SPAST):c.1325A>T (p.Glu442Val)

SNV
Germline

Chr2:32136880

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318215

1 SubmittersRCV001215693

NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter)

SNV
Germline

Chr2:86254802

Pathogenic

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1676463508

2 SubmittersRCV001224005 RCV004998744

NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter)

SNV
Germline

Chr7:4785585

Pathogenic

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_762066700

3 SubmittersRCV001220110 RCV001847197 RCV004720800

NM_001351169.2(NT5C2):c.1371T>A (p.Tyr457Ter)

SNV
Germline

Chr10:103090689

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

rs_1419090736

1 SubmittersRCV001224426

NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)

SNV
Germline

Chr12:57564956

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 10
Condition: not provided
KIF5A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_748551786

5 SubmittersRCV001215426 RCV003336339 RCV001268563 RCV004548072

NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn)

SNV
Germline

Chr12:57628713

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 26

Criteria Provided
Conflicting Classifications

rs_1471760048

2 SubmittersRCV001218621 RCV001391542

NM_015915.5(ATL1):c.776C>T (p.Ser259Phe)

SNV
Germline

Chr14:50614425

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_119476047

3 SubmittersRCV001221487 RCV001268896

NM_015915.5(ATL1):c.1119G>A (p.Glu373=)

SNV
Germline

Chr14:50623248

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2039485066

1 SubmittersRCV001223499

NM_015346.4(ZFYVE26):c.3022C>T (p.Arg1008Ter)

SNV
Germline

Chr14:67786231

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_766888372

2 SubmittersRCV001219596 RCV003329383

NM_144599.5(NIPA1):c.731A>G (p.Gln244Arg)

SNV
Germline

Chr15:22823980

Pathogenic

Hereditary spastic paraplegia 6

Criteria Provided
Single Submitter

rs_1895598333

1 SubmittersRCV001219670

NM_025137.4(SPG11):c.2445G>A (p.Arg815=)

SNV
Germline

Chr15:44621934

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748048928

2 SubmittersRCV001222622 RCV002429942

NM_025137.4(SPG11):c.382A>G (p.Thr128Ala)

SNV
Germline

Chr15:44660492

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_138969879

2 SubmittersRCV002563059 RCV001224794

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

rs_529316227

3 SubmittersRCV001218744 RCV002298906 RCV002468190 RCV002468191

NM_024306.5(FA2H):c.806G>A (p.Arg269His)

SNV
Germline

Chr16:74716580

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 35
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

rs_1429546236

6 SubmittersRCV001219726 RCV001819910 RCV001250165 RCV002282488

NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)

SNV
Germline

Chr16:89526449

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_779055639

6 SubmittersRCV001220525 RCV001819912

NM_000533.5(PLP1):c.441A>T (p.Gly147=)

SNV
Germline

ChrX:103786714

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602383021

2 SubmittersRCV001215006 RCV004595578

NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)

SNV
Germline

Chr1:113900124

Pathogenic

Hereditary spastic paraplegia 47
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_746462207

4 SubmittersRCV001211765 RCV003127686

NM_001244008.2(KIF1A):c.350G>A (p.Gly117Asp)

SNV
Germline

Chr2:240788064

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1200817308

2 SubmittersRCV001205549 RCV004726953

NM_014946.4(SPAST):c.928A>T (p.Lys310Ter)

SNV
Germline

Chr2:32115759

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1678806430

2 SubmittersRCV001213809 RCV001288799

NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu)

SNV
Germline

Chr2:32136567

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318161

2 SubmittersRCV001213726 RCV001819904

NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)

SNV
Germline

Chr2:32136945

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1679556566

2 SubmittersRCV001213823 RCV001847192

NM_014946.4(SPAST):c.1646T>C (p.Leu549Pro)

SNV
Germline

Chr2:32144966

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553319534

1 SubmittersRCV001209517

NM_001371279.1(REEP1):c.59C>T (p.Ala20Val)

SNV
Germline

Chr2:86282216

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_121918262

1 SubmittersRCV001213470

NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:86337509

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1681107508

3 SubmittersRCV001210927 RCV001268396 RCV004671256

NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)

SNV
Germline

Chr8:125076477

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome 1

Criteria Provided
Conflicting Classifications

rs_765982075

2 SubmittersRCV001204701 RCV004726950

NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr)

SNV
Germline

Chr8:64596817

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3
not specified

Criteria Provided
Conflicting Classifications

rs_761060634

3 SubmittersRCV001212781 RCV003483789 RCV004587071

NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys)

SNV
Germline

Chr8:64615122

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_866340497

3 SubmittersRCV001212782 RCV002282486 RCV003483790

NM_025137.4(SPG11):c.6753G>A (p.Trp2251Ter)

SNV
Germline

Chr15:44567425

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2082333064

1 SubmittersRCV001208597

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

Criteria Provided
Conflicting Classifications

rs_543344637

2 SubmittersRCV001204169 RCV002491612

NM_025137.4(SPG11):c.5815G>T (p.Glu1939Ter)

SNV
Germline

Chr15:44583865

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2082702986

1 SubmittersRCV001208596

NM_025137.4(SPG11):c.3749T>C (p.Ile1250Thr)

SNV
Germline

Chr15:44598774

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_763244237

2 SubmittersRCV001203681 RCV003363151

NM_025137.4(SPG11):c.377A>G (p.Asp126Gly)

SNV
Germline

Chr15:44660497

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142097614

2 SubmittersRCV001202878 RCV002348657

NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)

SNV
Germline

Chr16:74726249

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

rs_1463651673

4 SubmittersRCV001205551 RCV002249795 RCV003223418

NM_001166114.2(PNPLA6):c.2466C>T (p.Ser822=)

SNV
Germline

Chr19:7554555

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_780346245

2 SubmittersRCV004960544 RCV001210357

NM_014946.4(SPAST):c.1004+1G>C

SNV
Germline

Chr2:32115836

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553315236

1 SubmittersRCV001213274

NM_014946.4(SPAST):c.1537-1G>A

SNV
Germline

Chr2:32143335

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553319280

2 SubmittersRCV001203793

NM_001371279.1(REEP1):c.106-2A>T

SNV
Germline

Chr2:86264043

Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1677010564

2 SubmittersRCV001207713 RCV004792796

NM_001010867.4(IBA57):c.341+1G>A

SNV
Germline

Chr1:228166158

Likely pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Single Submitter

rs_1250537283

1 SubmittersRCV001219724

NM_014946.4(SPAST):c.1098+1G>A

SNV
Germline

Chr2:32116213

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1377020559

1 SubmittersRCV001218499

NM_014946.4(SPAST):c.1493+1G>A

SNV
Germline

Chr2:32137189

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318351

2 SubmittersRCV001219396 RCV001664760

NM_025137.4(SPG11):c.2444+1G>A

SNV
Germline

Chr15:44622219

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_312262743

1 SubmittersRCV001220084

NM_003119.4(SPG7):c.759-2A>G

SNV
Germline

Chr16:89529475

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_770299071

5 SubmittersRCV001221055 RCV001267934

NM_000533.5(PLP1):c.454-314T>G

SNV
Germline

ChrX:103787484

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

rs_2074506871

1 SubmittersRCV001225011

NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu)

SNV
Germline

Chr1:109630288

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9
Condition: not provided
Hereditary spastic paraplegia 63

Criteria Provided
Conflicting Classifications

rs_761542502

4 SubmittersRCV001234925 RCV003346399 RCV003318673 RCV003346398

NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr)

SNV
Germline

Chr2:240718114

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

rs_773017134

2 SubmittersRCV001231128 RCV002497786

NM_014946.4(SPAST):c.157T>G (p.Phe53Val)

SNV
Germline

Chr2:32063988

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200029938

2 SubmittersRCV001237012 RCV003883583

NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)

SNV
Germline

Chr2:32064133

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_746263735

3 SubmittersRCV001233082 RCV001291596

NM_014946.4(SPAST):c.302C>T (p.Ser101Leu)

SNV
Germline

Chr2:32064133

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_746263735

2 SubmittersRCV001233634 RCV002567885

NM_014946.4(SPAST):c.1322A>T (p.Asp441Val)

SNV
Germline

Chr2:32136877

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_121908512

1 SubmittersRCV001238726

NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter)

SNV
Germline

Chr2:32137163

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318336

3 SubmittersRCV001228446 RCV002473231

NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)

SNV
Germline

Chr2:32137178

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_1060502228

2 SubmittersRCV001234587

NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)

SNV
Germline

Chr13:23339062

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_770007806

3 SubmittersRCV001225970 RCV001828802 RCV001847199

NM_014844.5(TECPR2):c.3072G>A (p.Trp1024Ter)

SNV
Germline

Chr14:102445944

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

rs_765880201

2 SubmittersRCV001230412

NM_015346.4(ZFYVE26):c.3061C>T (p.Arg1021Ter)

SNV
Germline

Chr14:67786192

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039651443

2 SubmittersRCV003130199 RCV001226534

NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)

SNV
Germline

Chr16:74716421

Conflicting classifications of pathogenicity

Spastic paraplegia
Spastic ataxia
Hereditary spastic paraplegia 35
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373010581

5 SubmittersRCV001235650 RCV001644956 RCV002471051 RCV003155377 RCV004797914

NM_001244008.2(KIF1A):c.3604C>T (p.Arg1202Cys)

SNV
Germline

Chr2:240742965

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759228543

2 SubmittersRCV001245860 RCV002285464

NM_014855.3(AP5Z1):c.1523C>G (p.Ala508Gly)

SNV
Germline

Chr7:4788222

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370879999

3 SubmittersRCV001246467 RCV001751497 RCV004034864

NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)

SNV
Germline

Chr12:57576327

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

rs_554894381

3 SubmittersRCV001244777 RCV001391464 RCV004738216

NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)

SNV
Germline

Chr13:23333929

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_775506976

3 SubmittersRCV001247263 RCV001830006 RCV001847210

NM_014844.5(TECPR2):c.1546G>A (p.Val516Met)

SNV
Germline

Chr14:102434363

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141697267

3 SubmittersRCV001245739 RCV002564097

NM_025137.4(SPG11):c.7105C>T (p.Gln2369Ter)

SNV
Germline

Chr15:44564593

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1397432412

1 SubmittersRCV001244849

NM_025137.4(SPG11):c.7056C>A (p.Tyr2352Ter)

SNV
Germline

Chr15:44564642

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_746329317

1 SubmittersRCV001247418

NM_025137.4(SPG11):c.789A>G (p.Lys263=)

SNV
Germline

Chr15:44657175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_764439012

3 SubmittersRCV002468204 RCV001244779 RCV002221269 RCV002468205

NM_001166114.2(PNPLA6):c.1321C>T (p.Gln441Ter)

SNV
Germline

Chr19:7542629

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_2023204790

1 SubmittersRCV001240898

NM_001166114.2(PNPLA6):c.1343C>G (p.Ser448Cys)

SNV
Germline

Chr19:7542651

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144028775

3 SubmittersRCV001246814 RCV003263900 RCV002069313

NM_025137.4(SPG11):c.5866+1G>A

SNV
Germline

Chr15:44583813

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_765725393

7 SubmittersRCV001226466 RCV001780156

NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)

SNV
Germline

Chr7:100106494

Pathogenic/Likely pathogenic

Intellectual disability
Hereditary spastic paraplegia 50
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562912305

4 SubmittersRCV001260896 RCV001249634 RCV001849488 RCV004720819

NM_001371279.1(REEP1):c.303+2T>C

SNV
Germline

Chr2:86254692

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_1676453652

1 SubmittersRCV001271098

NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln)

SNV
Germline

Chr12:57567602

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

rs_1594915468

1 SubmittersRCV001250416

NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)

SNV
Germline

Chr7:4785048

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 48
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_376075583

5 SubmittersRCV001251146 RCV003227016 RCV004814023

NM_015915.5(ATL1):c.574C>T (p.Leu192Phe)

SNV
Germline

Chr14:50595576

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039208042

2 SubmittersRCV001251114

NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter)

SNV
Germline

Chr15:44589306

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2082843264

1 SubmittersRCV001251104

NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)

SNV
Germline

Chr2:240773246

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

rs_387907259

2 SubmittersRCV001251223 RCV001879817

NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg)

SNV
Unknown

Chr2:240783781

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_555641774

1 SubmittersRCV001251230

NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro)

SNV
Germline

Chr2:240786425

Likely pathogenic

Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2054755647

2 SubmittersRCV001251220 RCV004629524

NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)

SNV
Germline

Chr2:240786443

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

rs_2054757914

4 SubmittersRCV001251216 RCV002511065 RCV001879816

NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn)

SNV
Unknown

Chr2:240788097

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2055181124

1 SubmittersRCV001251232

NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)

SNV
Germline

Chr2:240722473

Conflicting classifications of pathogenicity

Intellectual disability
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_1468401006

3 SubmittersRCV001252292 RCV001879848 RCV004799259

NM_001253852.3(AP4B1):c.1115-2A>G

SNV
Germline

Chr1:113898803

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1210851910

4 SubmittersRCV001253107 RCV001849491 RCV002298916

NM_002361.4(MAG):c.1126C>T (p.Gln376Ter)

SNV
Germline

Chr19:35302603

Pathogenic

Hereditary spastic paraplegia 75

Criteria Provided
Single Submitter

rs_2066456693

1 SubmittersRCV001254027

NM_002361.4(MAG):c.1522C>T (p.Arg508Ter)

SNV
Germline

Chr19:35310549

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 75

Criteria Provided
Multiple Submitters
No Conflicts

rs_2066519362

2 SubmittersRCV001254028

NM_001244008.2(KIF1A):c.38G>T (p.Arg13Leu)

SNV
Germline

Chr2:240797715

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_797045050

1 SubmittersRCV001255725

NM_025137.4(SPG11):c.6205+1G>A

SNV
Germline

Chr15:44573546

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_753650233

2 SubmittersRCV001255855

NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)

SNV
Unknown

Chr19:49692254

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

rs_751933977

1 SubmittersRCV001256201

NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter)

SNV
Germline

Chr14:102414726

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

rs_1888974364

2 SubmittersRCV001257142

NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro)

SNV
Germline

Chr2:240773179

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2052246987

2 SubmittersRCV001258334 RCV001847215

NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)

SNV
Germline

Chr16:89553824

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_373143136

2 SubmittersRCV001260249

NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr7:100101724

Pathogenic/Likely pathogenic

Intellectual disability
Hereditary spastic paraplegia 50
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_777220438

4 SubmittersRCV001260895 RCV001879998 RCV002246252

NM_014946.4(SPAST):c.1322-2A>G

SNV
Unknown

Chr2:32136875

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318208

1 SubmittersRCV001261168

NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)

SNV
Unknown

Chr14:50628383

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2039543082

1 SubmittersRCV001261529

NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr7:100104095

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Multiple Submitters
No Conflicts

rs_1796279189

2 SubmittersRCV001261614

NM_001244008.2(KIF1A):c.2464C>T (p.Arg822Trp)

SNV
Germline

Chr2:240758478

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1328033713

3 SubmittersRCV001262252 RCV002537629 RCV002272436

NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)

SNV
Germline

Chr8:125047222

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome 1

Criteria Provided
Conflicting Classifications

rs_749703625

3 SubmittersRCV001267232 RCV003770396 RCV004556082

NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)

SNV
Germline

Chr14:50628131

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039539459

4 SubmittersRCV001267476 RCV001391396

NM_025137.4(SPG11):c.5866+5G>C

SNV
Germline

Chr15:44583809

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_1256036525

2 SubmittersRCV001266813 RCV003495239

NM_000533.5(PLP1):c.696+1G>A

SNV
Germline

ChrX:103788511

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_113897548

4 SubmittersRCV001266006 RCV003512111 RCV004595587 RCV003319459

NM_014946.4(SPAST):c.1245+6T>G

SNV
Germline

Chr2:32128485

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_1553317050

5 SubmittersRCV001268913 RCV001376806

NM_014946.4(SPAST):c.1379G>A (p.Arg460His)

SNV
Germline

Chr2:32136934

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318241

3 SubmittersRCV001268496 RCV001377876 RCV001847217

NM_014946.4(SPAST):c.1493+2T>A

SNV
Germline

Chr2:32137190

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318353

2 SubmittersRCV001268480 RCV002246265

NM_001371279.1(REEP1):c.32+1G>T

SNV
Germline

Chr2:86337478

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 31
REEP1-related disorder

Criteria Provided
Single Submitter

rs_1681105619

3 SubmittersRCV001267968 RCV004769985 RCV004731114

NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr15:44622233

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_756134516

5 SubmittersRCV001268650 RCV001386275 RCV002451632

NM_001166114.2(PNPLA6):c.3265C>T (p.Arg1089Ter)

SNV
Germline

Chr19:7556709

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Multiple Submitters
No Conflicts

rs_562113164

2 SubmittersRCV001267930 RCV003617919

NM_001244008.2(KIF1A):c.1013A>G (p.Tyr338Cys)

SNV
Germline

Chr2:240774207

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2125976707

2 SubmittersRCV001391364

NM_001244008.2(KIF1A):c.1001C>T (p.Ala334Val)

SNV
Unknown

Chr2:240774219

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2125976763

1 SubmittersRCV001391363

NM_001244008.2(KIF1A):c.890A>G (p.Lys297Arg)

SNV
Germline

Chr2:240775919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_1250934752

2 SubmittersRCV001391605 RCV001880215

NM_001244008.2(KIF1A):c.841G>C (p.Val281Leu)

SNV
Unknown

Chr2:240783067

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2126049787

1 SubmittersRCV001391604

NM_001244008.2(KIF1A):c.801G>T (p.Glu267Asp)

SNV
Germline

Chr2:240783107

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_2126050077

2 SubmittersRCV001391602 RCV002542863

NM_001244008.2(KIF1A):c.742G>A (p.Asp248Asn)

SNV
Germline

Chr2:240783795

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2126054501

2 SubmittersRCV001391601 RCV001847224

NM_001244008.2(KIF1A):c.658G>T (p.Val220Phe)

SNV
Unknown

Chr2:240785051

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_201314877

1 SubmittersRCV001391600

NM_001244008.2(KIF1A):c.644G>A (p.Ser215Asn)

SNV
Unknown

Chr2:240785065

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2126062641

1 SubmittersRCV001391599

NM_001244008.2(KIF1A):c.521T>C (p.Leu174Pro)

SNV
Unknown

Chr2:240786422

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2126071436

1 SubmittersRCV001391598

NM_001244008.2(KIF1A):c.232G>C (p.Gly78Arg)

SNV
Unknown

Chr2:240788182

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_1057518760

1 SubmittersRCV001391595

NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu)

SNV
Germline

Chr2:240788197

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770463399

3 SubmittersRCV001391593 RCV001325843 RCV001354770

NM_001244008.2(KIF1A):c.206C>G (p.Ser69Trp)

SNV
Unknown

Chr2:240788208

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_786200949

1 SubmittersRCV001391592

NM_001244008.2(KIF1A):c.76T>C (p.Cys26Arg)

SNV
Unknown

Chr2:240797677

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2126147743

1 SubmittersRCV001391591

NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)

SNV
Germline

Chr2:32063996

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_368951498

2 SubmittersRCV001381114

NM_014946.4(SPAST):c.447T>A (p.Tyr149Ter)

SNV
Unknown

Chr2:32087523

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553399498

1 SubmittersRCV001391486

NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr2:32089596

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553400013

2 SubmittersRCV001391487

NM_014946.4(SPAST):c.748A>T (p.Lys250Ter)

SNV
Germline

Chr2:32114703

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1318536893

2 SubmittersRCV001391488

NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter)

SNV
Unknown

Chr2:32114762

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_771388402

1 SubmittersRCV001391489

NM_014946.4(SPAST):c.870+3A>G

SNV
Unknown

Chr2:32114828

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553314979

1 SubmittersRCV001391490

NM_014946.4(SPAST):c.955A>T (p.Asn319Tyr)

SNV
Unknown

Chr2:32115786

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1678808584

1 SubmittersRCV001391492

NM_014946.4(SPAST):c.983T>C (p.Ile328Thr)

SNV
Unknown

Chr2:32115814

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148734189

1 SubmittersRCV001391493

NM_014946.4(SPAST):c.1004+1G>T

SNV
Unknown

Chr2:32115836

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553315236

1 SubmittersRCV001391495

NM_014946.4(SPAST):c.1004+2T>G

SNV
Germline

Chr2:32115837

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553315240

2 SubmittersRCV001391494

NM_014946.4(SPAST):c.1004+5G>T

SNV
Unknown

Chr2:32115840

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1320663265

1 SubmittersRCV001391496

NM_014946.4(SPAST):c.1047G>C (p.Leu349Phe)

SNV
Unknown

Chr2:32116161

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148734527

1 SubmittersRCV001391498

NM_014946.4(SPAST):c.1085C>T (p.Ser362Phe)

SNV
Unknown

Chr2:32116199

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_121908509

1 SubmittersRCV001391500

NM_014946.4(SPAST):c.1098+2T>A

SNV
Unknown

Chr2:32116214

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148734626

1 SubmittersRCV001391501

NM_014946.4(SPAST):c.1099-1G>A

SNV
Germline

Chr2:32126947

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148744884

2 SubmittersRCV001391502

NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)

SNV
Unknown

Chr2:32126954

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1553316802

2 SubmittersRCV001391503 RCV003482357

NM_014946.4(SPAST):c.1148C>G (p.Pro383Arg)

SNV
Unknown

Chr2:32126997

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148745001

1 SubmittersRCV001391504

NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)

SNV
Unknown

Chr2:32128415

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1189374970

1 SubmittersRCV001391506

NM_014946.4(SPAST):c.1219A>C (p.Ser407Arg)

SNV
Unknown

Chr2:32128453

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553317041

1 SubmittersRCV001391507

NM_014946.4(SPAST):c.1226C>T (p.Ala409Val)

SNV
Unknown

Chr2:32128460

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148746390

1 SubmittersRCV001391508

NM_014946.4(SPAST):c.1242A>G (p.Lys414=)

SNV
Unknown

Chr2:32128476

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553317048

1 SubmittersRCV001391509

NM_014946.4(SPAST):c.1245+3G>C

SNV
Unknown

Chr2:32128482

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148746437

1 SubmittersRCV001391510

NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)

SNV
Germline

Chr2:32136570

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148753625

2 SubmittersRCV001391511

NM_014946.4(SPAST):c.1266G>C (p.Leu422Phe)

SNV
Unknown

Chr2:32136583

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1679543653

1 SubmittersRCV001391513

NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr)

SNV
Unknown

Chr2:32136588

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148753672

1 SubmittersRCV001391514

NM_014946.4(SPAST):c.1306T>C (p.Ser436Pro)

SNV
Unknown

Chr2:32136623

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148753700

1 SubmittersRCV001391515

NM_014946.4(SPAST):c.1307C>A (p.Ser436Tyr)

SNV
Unknown

Chr2:32136624

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318184

1 SubmittersRCV001391516

NM_014946.4(SPAST):c.1321+1G>A

SNV
Unknown

Chr2:32136639

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148753724

1 SubmittersRCV001391518

NM_014946.4(SPAST):c.1321+2T>G

SNV
Unknown

Chr2:32136640

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148753725

1 SubmittersRCV001391517

NM_014946.4(SPAST):c.1322-2A>C

SNV
Unknown

Chr2:32136875

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318208

1 SubmittersRCV001391579

NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)

SNV
Germline

Chr2:32136895

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_2148753950

3 SubmittersRCV001361865

NM_014946.4(SPAST):c.1384A>C (p.Lys462Gln)

SNV
Unknown

Chr2:32136939

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318246

1 SubmittersRCV001391580

NM_014946.4(SPAST):c.1396C>G (p.Leu466Val)

SNV
Unknown

Chr2:32136951

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318252

1 SubmittersRCV001391581

NM_014946.4(SPAST):c.1405T>G (p.Phe469Val)

SNV
Unknown

Chr2:32136960

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148754101

1 SubmittersRCV001391582

NM_014946.4(SPAST):c.1462A>G (p.Arg488Gly)

SNV
Unknown

Chr2:32137157

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318329

1 SubmittersRCV001391583

NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu)

SNV
Unknown

Chr2:32137161

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318331

1 SubmittersRCV001391585

NM_014946.4(SPAST):c.1472A>G (p.Glu491Gly)

SNV
Unknown

Chr2:32137167

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148754376

1 SubmittersRCV001391586

NM_014946.4(SPAST):c.1493+1G>T

SNV
Germline

Chr2:32137189

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318351

3 SubmittersRCV001391588 RCV002511069

NM_014946.4(SPAST):c.1493+2T>C

SNV
Unknown

Chr2:32137190

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318353

1 SubmittersRCV001391587

NM_014946.4(SPAST):c.1494-1G>A

SNV
Unknown

Chr2:32141903

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1315245986

1 SubmittersRCV001391589

NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser)

SNV
Germline

Chr2:32143349

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_2148759388

2 SubmittersRCV001391343

NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr2:32143390

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148759447

2 SubmittersRCV001391347

NM_014946.4(SPAST):c.1616+5G>A

SNV
Germline

Chr2:32143420

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_2148759485

2 SubmittersRCV001391348

NM_014946.4(SPAST):c.1617-2A>T

SNV
Unknown

Chr2:32144935

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553319524

1 SubmittersRCV001391350

NM_014946.4(SPAST):c.1667C>T (p.Ala556Val)

SNV
Unknown

Chr2:32144987

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148760886

1 SubmittersRCV001391351

NM_014946.4(SPAST):c.1688-1G>C

SNV
Unknown

Chr2:32147217

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1573174147

1 SubmittersRCV001391352

NM_014946.4(SPAST):c.1715T>C (p.Met572Thr)

SNV
Germline

Chr2:32147245

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_138146982

2 SubmittersRCV001391353

NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)

SNV
Germline

Chr2:32154386

Pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_778023258

5 SubmittersRCV001391354 RCV001847219 RCV002473251

NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro)

SNV
Germline

Chr2:32154387

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_749484350

2 SubmittersRCV001391355

NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn)

SNV
Germline

Chr2:32154429

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_2148769328

2 SubmittersRCV001391576 RCV002541652

NM_001371279.1(REEP1):c.418-1G>A

SNV
Unknown

Chr2:86232803

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_2104054912

1 SubmittersRCV001391642

NM_001371279.1(REEP1):c.260T>G (p.Leu87Arg)

SNV
Unknown

Chr2:86254737

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_2104244362

1 SubmittersRCV001391640

NM_001371279.1(REEP1):c.182+5G>C

SNV
Unknown

Chr2:86263960

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_766166355

1 SubmittersRCV001391638

NM_001371279.1(REEP1):c.166G>C (p.Asp56His)

SNV
Unknown

Chr2:86263981

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_1060503493

1 SubmittersRCV001391637

NM_001371279.1(REEP1):c.106-4A>G

SNV
Unknown

Chr2:86264045

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1677011138

2 SubmittersRCV001391636 RCV002473253

NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)

SNV
Unknown

Chr2:86282219

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_1060503496

1 SubmittersRCV001391633

NM_183075.3(CYP2U1):c.1A>C (p.Met1Leu)

SNV
Unknown

Chr4:107931644

Pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

rs_773841071

1 SubmittersRCV001391444

NM_183075.3(CYP2U1):c.719G>A (p.Arg240His)

SNV
Germline

Chr4:107945198

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 56
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145638445

3 SubmittersRCV001391445 RCV001880212 RCV004035438

NM_183075.3(CYP2U1):c.1469G>A (p.Cys490Tyr)

SNV
Unknown

Chr4:107950257

Pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

rs_1468917268

1 SubmittersRCV001391447

NM_014855.3(AP5Z1):c.1596-3C>G

SNV
Unknown

Chr7:4788837

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_2115122331

1 SubmittersRCV001391432

NM_014855.3(AP5Z1):c.1939-1G>A

SNV
Unknown

Chr7:4790672

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_2115128968

1 SubmittersRCV001391434

NM_014846.4(WASHC5):c.2645T>A (p.Phe882Tyr)

SNV
Unknown

Chr8:125044558

Pathogenic

Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

rs_1815998956

1 SubmittersRCV001391388

NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro)

SNV
Unknown

Chr8:125061129

Pathogenic

Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

rs_2130107479

1 SubmittersRCV001391384

NM_007175.8(ERLIN2):c.374A>G (p.Asn125Ser)

SNV
Unknown

Chr8:37744646

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2129680761

1 SubmittersRCV001391376

NM_007175.8(ERLIN2):c.430A>G (p.Ile144Val)

SNV
Unknown

Chr8:37749564

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2129710278

1 SubmittersRCV001391377

NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu)

SNV
Unknown

Chr8:37753509

Pathogenic

Hereditary spastic paraplegia 18

Criteria Provided
Single Submitter

rs_2129726150

1 SubmittersRCV001391378

NM_007175.8(ERLIN2):c.819G>A (p.Lys273=)

SNV
Unknown

Chr8:37753529

Pathogenic

Hereditary spastic paraplegia 18

Criteria Provided
Single Submitter

rs_779335579

1 SubmittersRCV001391379

NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)

SNV
Unknown

Chr8:37753972

Pathogenic

Hereditary spastic paraplegia 18

Criteria Provided
Single Submitter

rs_2129728774

1 SubmittersRCV001391380

NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)

SNV
Germline

Chr8:38242261

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54

Criteria Provided
Conflicting Classifications

rs_1380005347

3 SubmittersRCV001391366

NM_015214.3(DDHD2):c.1529G>A (p.Gly510Glu)

SNV
Unknown

Chr8:38252199

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

rs_2130848885

1 SubmittersRCV001391367

NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu)

SNV
Germline

Chr8:64604722

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_767611387

2 SubmittersRCV001391408 RCV002541651

NM_004820.5(CYP7B1):c.1168G>T (p.Gly390Ter)

SNV
Unknown

Chr8:64604747

Pathogenic

Hereditary spastic paraplegia 5A

Criteria Provided
Single Submitter

rs_765443036

1 SubmittersRCV001391407

NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)

SNV
Germline

Chr8:64604854

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A

Criteria Provided
Conflicting Classifications

rs_753708048

3 SubmittersRCV001341084 RCV001391406

NM_004820.5(CYP7B1):c.260-1G>A

SNV
Germline

Chr8:64616282

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1385678413

2 SubmittersRCV001391403 RCV003750858

NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala)

SNV
Unknown

Chr8:64624492

Pathogenic

Hereditary spastic paraplegia 5A

Criteria Provided
Single Submitter

rs_1805578327

1 SubmittersRCV001391402

NM_004820.5(CYP7B1):c.151G>C (p.Gly51Arg)

SNV
Germline

Chr8:64624511

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
not specified

Criteria Provided
Conflicting Classifications

rs_961524982

2 SubmittersRCV001391401 RCV004800954

NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser)

SNV
Unknown

Chr10:95637173

Pathogenic

Hereditary spastic paraplegia 9A

Criteria Provided
Single Submitter

rs_2139621272

1 SubmittersRCV001391612

NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg)

SNV
Unknown

Chr12:57564211

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

rs_2140159183

1 SubmittersRCV001391450

NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)

SNV
Germline

Chr12:57564479

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10

Criteria Provided
Conflicting Classifications

rs_2140159368

2 SubmittersRCV001391451

NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly)

SNV
Germline

Chr12:57567508

Pathogenic

Hereditary spastic paraplegia 10
Myoclonus, intractable, neonatal

Criteria Provided
Single Submitter

rs_1057524193

2 SubmittersRCV001391454 RCV004769988

NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn)

SNV
Unknown

Chr12:57567509

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

rs_1057519195

1 SubmittersRCV001391455

NM_004984.4(KIF5A):c.728G>A (p.Gly243Glu)

SNV
Unknown

Chr12:57568976

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

rs_2140162541

1 SubmittersRCV001391457

NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)

SNV
Germline

Chr12:57569011

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2140162576

2 SubmittersRCV001391458 RCV001880213

NM_004984.4(KIF5A):c.765C>G (p.Ile255Met)

SNV
Unknown

Chr12:57569013

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

rs_2140162581

1 SubmittersRCV001391459

NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile)

SNV
Unknown

Chr12:57569290

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

rs_2140162883

1 SubmittersRCV001391461

NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)

SNV
Germline

Chr12:57569325

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1416085161

2 SubmittersRCV001391462 RCV002537736

NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys)

SNV
Unknown

Chr12:57626833

Pathogenic

Hereditary spastic paraplegia 26

Criteria Provided
Single Submitter

rs_1884842111

1 SubmittersRCV001391544

NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro)

SNV
Unknown

Chr12:57626931

Pathogenic

Hereditary spastic paraplegia 26

Criteria Provided
Single Submitter

rs_759528128

1 SubmittersRCV001391543

NM_015915.5(ATL1):c.118G>T (p.Val40Phe)

SNV
Unknown

Chr14:50587914

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2140201780

1 SubmittersRCV001391389

NM_015915.5(ATL1):c.470T>C (p.Leu157Ser)

SNV
Unknown

Chr14:50591587

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_119476051

1 SubmittersRCV001391390

NM_015915.5(ATL1):c.575T>A (p.Leu192His)

SNV
Unknown

Chr14:50595577

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2140209847

1 SubmittersRCV001391391

NM_015915.5(ATL1):c.749T>C (p.Leu250Pro)

SNV
Unknown

Chr14:50614398

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2140226894

1 SubmittersRCV001391392

NM_015915.5(ATL1):c.751C>A (p.Gln251Lys)

SNV
Germline

Chr14:50614400

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

rs_1595615134

3 SubmittersRCV001391393

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

SNV
Unknown

Chr14:50623194

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_1555365597

1 SubmittersRCV001391394

NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)

SNV
Germline

Chr14:50628217

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

rs_2140239163

3 SubmittersRCV001391448

NM_015915.5(ATL1):c.1543T>C (p.Trp515Arg)

SNV
Unknown

Chr14:50628454

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2140239458

1 SubmittersRCV001391449

NM_001160148.2(DDHD1):c.510G>A (p.Trp170Ter)

SNV
Unknown

Chr14:53152589

Pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

rs_1891509468

1 SubmittersRCV001391443

NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)

SNV
Germline

Chr14:67785200

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_988442865

3 SubmittersRCV001391437 RCV001880210 RCV001847221

NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)

SNV
Germline

Chr14:67798291

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_2040001177

2 SubmittersRCV001384569 RCV001391436

NM_015346.4(ZFYVE26):c.3G>T (p.Met1Ile)

SNV
Unknown

Chr14:67815961

Pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_1392868365

1 SubmittersRCV001391435

NM_025137.4(SPG11):c.6343+5G>T

SNV
Unknown

Chr15:44572678

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756302161

2 SubmittersRCV001391629 RCV003482358

NM_025137.4(SPG11):c.5032G>T (p.Glu1678Ter)

SNV
Unknown

Chr15:44585725

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1277084672

1 SubmittersRCV001391561

NM_025137.4(SPG11):c.4002-2A>G

SNV
Unknown

Chr15:44596945

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2140973951

1 SubmittersRCV001391558

NM_025137.4(SPG11):c.3686+4A>G

SNV
Unknown

Chr15:44600463

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1595865855

1 SubmittersRCV001391557

NM_025137.4(SPG11):c.2740C>T (p.Gln914Ter)

SNV
Unknown

Chr15:44620284

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_761896412

1 SubmittersRCV001391553

NM_024306.5(FA2H):c.190G>T (p.Gly64Trp)

SNV
Unknown

Chr16:74774566

Pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

rs_1410690526

1 SubmittersRCV001391535

NM_003119.4(SPG7):c.712A>T (p.Lys238Ter)

SNV
Unknown

Chr16:89526422

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_2152400493

1 SubmittersRCV001391424

NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)

SNV
Germline

Chr16:89532481

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_2058357964

2 SubmittersRCV001391429

NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter)

SNV
Unknown

Chr16:89546679

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_1179556029

1 SubmittersRCV001391519

NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)

SNV
Germline

Chr16:89546727

Pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_1482442290

4 SubmittersRCV001847223 RCV001391520

NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro)

SNV
Unknown

Chr16:89546743

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_2058569546

1 SubmittersRCV001391522

NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter)

SNV
Unknown

Chr16:89548053

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_2152410293

1 SubmittersRCV001391525

NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)

SNV
Germline

Chr16:89550560

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_1329063851

5 SubmittersRCV001391527 RCV001819969 RCV004690042

NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)

SNV
Germline

Chr16:89550593

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_778387199

4 SubmittersRCV001391528

NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter)

SNV
Unknown

Chr16:89550607

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_1463225651

1 SubmittersRCV001391529

NM_001166114.2(PNPLA6):c.1362+1G>C

SNV
Unknown

Chr19:7542671

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_2146060616

1 SubmittersRCV001391538

NM_001166114.2(PNPLA6):c.1456C>A (p.Pro486Thr)

SNV
Unknown

Chr19:7542854

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_1055816694

1 SubmittersRCV001391539

NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)

SNV
Germline

Chr14:102431914

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_759378757

3 SubmittersRCV001277543 RCV001847225

NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser)

SNV
Germline

Chr14:102434460

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_904496072

3 SubmittersRCV001277548 RCV002541663 RCV001847226

NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=)

SNV
Germline

Chr14:102497673

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

rs_376614211

4 SubmittersRCV001279681 RCV001847227 RCV003155385

NM_020944.3(GBA2):c.1582+2T>G

SNV
Germline

Chr9:35739626

Likely pathogenic

Hereditary spastic paraplegia 46
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_941656065

2 SubmittersRCV001280545 RCV002541750

NM_020944.3(GBA2):c.451+1G>A

SNV
Germline

Chr9:35744614

Likely pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

rs_769002624

1 SubmittersRCV001280667

NM_015046.7(SETX):c.1140T>G (p.Pro380=)

SNV
Germline

Chr9:132330458

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
SETX-related disorder
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_140553290

5 SubmittersRCV001813050 RCV001847229 RCV004545176 RCV002542980

NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=)

SNV
Germline

Chr2:240758461

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_371444142

2 SubmittersRCV001288232 RCV001412652

NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter)

SNV
Germline

Chr14:102498124

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_1891340555

2 SubmittersRCV001290270

NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)

SNV
Germline

Chr2:32154383

Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1259072587

3 SubmittersRCV001290955 RCV003883601

NM_001244008.2(KIF1A):c.4999G>A (p.Asp1667Asn)

SNV
Germline

Chr2:240719796

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_754893576

3 SubmittersRCV001308084 RCV002543223 RCV001329209

NM_001244008.2(KIF1A):c.4391G>T (p.Gly1464Val)

SNV
Germline

Chr2:240723486

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1477553245

2 SubmittersRCV001299749 RCV002327644

NM_001244008.2(KIF1A):c.3776G>A (p.Arg1259His)

SNV
Germline

Chr2:240740338

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_761077237

3 SubmittersRCV001302334 RCV001760356

NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr)

SNV
Germline

Chr2:240760768

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_369842871

4 SubmittersRCV001307096 RCV001819999 RCV002447313 RCV002476412

NM_001244008.2(KIF1A):c.934A>C (p.Thr312Pro)

SNV
Germline

Chr2:240775875

Pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

rs_2052660081

1 SubmittersRCV001301690

NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)

SNV
Germline

Chr2:240797721

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_1575654528

1 SubmittersRCV001298157

NM_014946.4(SPAST):c.1324G>A (p.Glu442Lys)

SNV
Germline

Chr2:32136879

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318214

1 SubmittersRCV001308595

NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe)

SNV
Germline

Chr12:57630497

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 26

Criteria Provided
Conflicting Classifications

rs_759353736

2 SubmittersRCV001297102 RCV003223343

NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)

SNV
Germline

Chr15:44572748

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

rs_376817637

4 SubmittersRCV001302664 RCV002261332 RCV002357100 RCV002468217 RCV002468218

NM_003119.4(SPG7):c.1611C>G (p.His537Gln)

SNV
Germline

Chr16:89548061

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_139952725

2 SubmittersRCV001310349 RCV002070133

NM_001244008.2(KIF1A):c.1341+8C>T

SNV
Germline

Chr2:240770963

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

rs_749268264

2 SubmittersRCV001321564 RCV001820013

NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)

SNV
Germline

Chr2:240783789

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2054374864

1 SubmittersRCV001322987

NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter)

SNV
Germline

Chr8:125061179

Pathogenic

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

rs_1030054011

1 SubmittersRCV001313795

NM_015915.5(ATL1):c.716G>A (p.Arg239His)

SNV
Germline

Chr14:50613344

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1241621325

2 SubmittersRCV001316506 RCV001731196

NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys)

SNV
Germline

Chr19:7560753

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2024064953

4 SubmittersRCV001313282 RCV001543520

NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln)

SNV
Germline

Chr2:240773155

Conflicting classifications of pathogenicity

Spastic ataxia
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_759791775

2 SubmittersRCV001647221 RCV001859247

NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu)

SNV
Germline

Chr16:89553797

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_776380988

2 SubmittersRCV001647142

NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)

SNV
Germline

Chr16:89553829

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_2058661391

3 SubmittersRCV001647144

NM_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg)

SNV
Germline

Chr19:7555698

Conflicting classifications of pathogenicity

Spastic ataxia
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_768107851

2 SubmittersRCV001647153 RCV001859244

NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu)

SNV
Germline

Chr19:7557222

Conflicting classifications of pathogenicity

Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_748506175

2 SubmittersRCV001647195 RCV001871793

NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter)

SNV
Germline

Chr19:7561515

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_370033046

4 SubmittersRCV001384731 RCV001847242 RCV001647196 RCV002508308

NM_001271803.2(REEP2):c.331C>T (p.Arg111Ter)

SNV
Unknown

Chr5:138444781

Likely pathogenic

Hereditary spastic paraplegia 72

Criteria Provided
Single Submitter

rs_1763893777

1 SubmittersRCV001330517

NM_001271803.2(REEP2):c.523C>T (p.Arg175Ter)

SNV
Unknown

Chr5:138445333

Likely pathogenic

Hereditary spastic paraplegia 72

Criteria Provided
Single Submitter

rs_752698231

1 SubmittersRCV001330518

NM_014855.3(AP5Z1):c.179+1G>T

SNV
Unknown

Chr7:4781313

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_1186699852

1 SubmittersRCV001331909

NM_014846.4(WASHC5):c.3424-1G>T

SNV
Germline

Chr8:125024674

Likely pathogenic

Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

rs_1815322920

1 SubmittersRCV001331908

NM_001351169.2(NT5C2):c.539+1G>T

SNV
Unknown

Chr10:103101044

Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

rs_1457224574

1 SubmittersRCV001330410

NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)

SNV
Germline

Chr12:57569629

Conflicting classifications of pathogenicity

Myoclonus, intractable, neonatal
Hereditary spastic paraplegia
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

rs_749301835

4 SubmittersRCV001331326 RCV001847243 RCV001871817 RCV003987836

NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter)

SNV
Germline

Chr12:57581007

Conflicting classifications of pathogenicity

Myoclonus, intractable, neonatal
Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1882578572

3 SubmittersRCV001331328 RCV001542685 RCV002546460

NM_015346.4(ZFYVE26):c.886+1G>C

SNV
Germline

Chr14:67807397

Pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_752618765

1 SubmittersRCV001328901

NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)

SNV
Germline

Chr16:74774554

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_750198250

5 SubmittersRCV001329950 RCV001373220 RCV001724297 RCV004035686

NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)

SNV
Germline

Chr16:89532498

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2058358241

3 SubmittersRCV001331023 RCV001549705

NM_000533.5(PLP1):c.670C>A (p.Leu224Ile)

SNV
Germline

ChrX:103788484

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

rs_2074517785

1 SubmittersRCV001331309

NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)

SNV
Germline

Chr1:113896009

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Multiple Submitters
No Conflicts

rs_767220480

3 SubmittersRCV001334571

NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter)

SNV
Germline

Chr1:205163896

Pathogenic/Likely pathogenic

Congenital anomalies of kidney and urinary tract 1
Hereditary spastic paraplegia 23

Criteria Provided
Single Submitter

rs_77626160

1 SubmittersRCV001333861 RCV003147620

NM_001244008.2(KIF1A):c.1267G>A (p.Ala423Thr)

SNV
Germline

Chr2:240771045

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

rs_1345536541

2 SubmittersRCV001334231 RCV001871857

NM_014855.3(AP5Z1):c.158C>A (p.Ser53Ter)

SNV
Germline

Chr7:4781291

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_774738874

1 SubmittersRCV001335677

NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg)

SNV
Germline

Chr8:37744628

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 18
Spastic paraplegia, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_1802974214

2 SubmittersRCV001334646 RCV001712891

NM_015346.4(ZFYVE26):c.1564C>T (p.Gln522Ter)

SNV
Germline

Chr14:67802154

Pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_2040089822

1 SubmittersRCV001333858

NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)

SNV
Germline

Chr15:44570534

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_146240471

2 SubmittersRCV001336696 RCV003495243

NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)

SNV
Germline

Chr15:51002561

Pathogenic

ALG12-congenital disorder of glycosylation
Hereditary spastic paraplegia 51
Spastic paraplegia

Criteria Provided
Single Submitter

rs_1313275799

3 SubmittersRCV001333647 RCV001779155 RCV001849507

NM_001244008.2(KIF1A):c.4194G>T (p.Lys1398Asn)

SNV
Germline

Chr2:240725333

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_745612845

2 SubmittersRCV001347808 RCV002462950

NM_014946.4(SPAST):c.1349G>A (p.Arg450Lys)

SNV
Germline

Chr2:32136904

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1679553997

2 SubmittersRCV001341398 RCV001508981

NM_006070.6(TFG):c.738G>C (p.Gln246His)

SNV
Germline

Chr3:100744849

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370273888

3 SubmittersRCV001343138 RCV001507631 RCV002384468

NM_001166114.2(PNPLA6):c.913C>T (p.Arg305Trp)

SNV
Germline

Chr19:7541040

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_866964055

1 SubmittersRCV001352232

NM_001351169.2(NT5C2):c.1449+2T>C

SNV
Germline

Chr10:103090609

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 45
Neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_753295868

3 SubmittersRCV001352898 RCV002276708

NM_003119.4(SPG7):c.454A>G (p.Met152Val)

SNV
Germline

Chr16:89524083

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146186857

3 SubmittersRCV001353162 RCV002070220

NM_001244008.2(KIF1A):c.3601C>T (p.Arg1201Cys)

SNV
Germline

Chr2:240742968

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752464745

3 SubmittersRCV001364503 RCV001773725 RCV002456561

NM_001244008.2(KIF1A):c.467A>T (p.Asp156Val)

SNV
Germline

Chr2:240786476

Pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2126071766

1 SubmittersRCV001367455

NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter)

SNV
Germline

Chr8:125056685

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762401591

2 SubmittersRCV001373132 RCV004590359

NM_015915.5(ATL1):c.471G>T (p.Leu157Phe)

SNV
Germline

Chr14:50591588

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2140205438

1 SubmittersRCV001360017

NM_003119.4(SPG7):c.547G>A (p.Val183Ile)

SNV
Germline

Chr16:89524176

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373636036

2 SubmittersRCV001366647 RCV004692646

NM_001010867.4(IBA57):c.679+3A>G

SNV
Germline

Chr1:228175032

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754620334

6 SubmittersRCV001726527 RCV001865866 RCV003339628 RCV003130512

NM_014946.4(SPAST):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr2:32143405

Pathogenic

Hereditary spastic paraplegia

No Assertion Criteria Provided

rs_2148759473

1 SubmittersRCV001376106

NM_015915.5(ATL1):c.740A>G (p.His247Arg)

SNV
Germline

Chr14:50614389

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

rs_2140226883

2 SubmittersRCV001376177

NM_001010867.4(IBA57):c.341+1G>T

SNV
Germline

Chr1:228166158

Likely pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Single Submitter

rs_1250537283

1 SubmittersRCV001379031

NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)

SNV
Germline

Chr2:32137187

Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318350

3 SubmittersRCV001377877 RCV002265027

NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)

SNV
Germline

Chr4:107931986

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 56
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_766889023

4 SubmittersRCV002276241 RCV001379753 RCV004576988 RCV001847253

NM_015915.5(ATL1):c.1048G>T (p.Ala350Ser)

SNV
Germline

Chr14:50623177

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_1595621292

1 SubmittersRCV001379963

NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln)

SNV
Germline

Chr14:50628127

Likely pathogenic

Hereditary spastic paraplegia 3A
Accessory ectopic thyroid tissue

Criteria Provided
Single Submitter

rs_1595625104

2 SubmittersRCV001379692 RCV001849513

NM_015346.4(ZFYVE26):c.4798-1G>A

SNV
Germline

Chr14:67777736

Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555396303

2 SubmittersRCV001377533 RCV003485712

NM_025137.4(SPG11):c.443-1G>A

SNV
Germline

Chr15:44659304

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1040633382

2 SubmittersRCV001377267 RCV004796615

NM_003119.4(SPG7):c.286+1G>T

SNV
Germline

Chr16:89510593

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_1452259575

2 SubmittersRCV001378304

NM_000533.5(PLP1):c.647C>T (p.Pro216Leu)

SNV
Germline

ChrX:103788461

Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147766958

3 SubmittersRCV001379651 RCV004595597 RCV002509679

NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter)

SNV
Germline

Chr2:32128472

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553317045

2 SubmittersRCV001383109 RCV003482368

NM_014946.4(SPAST):c.1250G>T (p.Gly417Val)

SNV
Germline

Chr2:32136567

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553318161

2 SubmittersRCV001390175 RCV002259393

NM_014946.4(SPAST):c.1728+1G>T

SNV
Germline

Chr2:32147259

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_587777754

1 SubmittersRCV001382866

NM_014946.4(SPAST):c.1728+2T>G

SNV
Germline

Chr2:32147260

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553319874

1 SubmittersRCV001382867

NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)

SNV
Germline

Chr2:32154494

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553321270

3 SubmittersRCV001385100 RCV004998866

NM_001371279.1(REEP1):c.417+1G>C

SNV
Germline

Chr2:86251956

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_2104223296

1 SubmittersRCV001381758

NM_001371279.1(REEP1):c.417+1G>A

SNV
Germline

Chr2:86251956

Pathogenic

Hereditary spastic paraplegia 31
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2104223296

2 SubmittersRCV001386861 RCV001847255

NM_001371279.1(REEP1):c.345C>G (p.Tyr115Ter)

SNV
Germline

Chr2:86252029

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_138656911

1 SubmittersRCV001390200

NM_001371279.1(REEP1):c.224G>A (p.Trp75Ter)

SNV
Germline

Chr2:86254773

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_2104244665

1 SubmittersRCV001386988

NM_006070.6(TFG):c.317G>A (p.Arg106His)

SNV
Germline

Chr3:100728760

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
TFG-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376971794

7 SubmittersRCV001389156 RCV001542526 RCV003479321 RCV001780372 RCV002322372

NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter)

SNV
Germline

Chr14:102376755

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_2139656549

1 SubmittersRCV001383628

NM_014844.5(TECPR2):c.2093G>A (p.Trp698Ter)

SNV
Germline

Chr14:102434910

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_2139731631

1 SubmittersRCV001385005

NM_014844.5(TECPR2):c.2599G>T (p.Glu867Ter)

SNV
Germline

Chr14:102440456

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_200843101

1 SubmittersRCV001387583

NM_014844.5(TECPR2):c.2915G>A (p.Trp972Ter)

SNV
Germline

Chr14:102443809

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_2139743890

1 SubmittersRCV001386525

NM_014844.5(TECPR2):c.3326G>A (p.Trp1109Ter)

SNV
Germline

Chr14:102450569

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_2139752366

1 SubmittersRCV001384672

NM_014844.5(TECPR2):c.3946C>T (p.Gln1316Ter)

SNV
Germline

Chr14:102497584

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_2139803640

1 SubmittersRCV001385064

NM_015915.5(ATL1):c.565C>G (p.His189Asp)

SNV
Germline

Chr14:50593888

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2140208127

1 SubmittersRCV001385343

NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter)

SNV
Germline

Chr14:67762687

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_756042888

2 SubmittersRCV001383486 RCV002476723

NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter)

SNV
Germline

Chr15:44564560

Pathogenic

Hereditary spastic paraplegia 11
SPG11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_369467143

2 SubmittersRCV001383613 RCV003405631

NM_025137.4(SPG11):c.4939C>T (p.Gln1647Ter)

SNV
Germline

Chr15:44585818

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_959026057

1 SubmittersRCV001384570

NM_025137.4(SPG11):c.4621C>T (p.Gln1541Ter)

SNV
Germline

Chr15:44595273

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2140969609

1 SubmittersRCV001385556

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
Hereditary spastic paraplegia 11
Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_2140971559

2 SubmittersRCV001384631 RCV003483829

NM_003119.4(SPG7):c.2T>A (p.Met1Lys)

SNV
Germline

Chr16:89508419

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

rs_1332265538

2 SubmittersRCV001382565 RCV002469389

NM_005619.5(RTN2):c.148G>T (p.Glu50Ter)

SNV
Germline

Chr19:45494937

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1162797495

3 SubmittersRCV001382027 RCV001780309 RCV004793477

NM_001166114.2(PNPLA6):c.2185-1G>T

SNV
Germline

Chr19:7551361

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_606231249

1 SubmittersRCV001389254

NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln)

SNV
Germline

Chr19:7561510

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368661376

3 SubmittersRCV001386441 RCV001847254 RCV003482369

NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=)

SNV
Germline

Chr2:201709967

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_764925739

2 SubmittersRCV001409881 RCV001847264

NM_001371279.1(REEP1):c.537C>T (p.Ser179=)

SNV
Germline

Chr2:86232683

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Hereditary spastic paraplegia 31
Neuronopathy, distal hereditary motor, type 5B

Criteria Provided
Conflicting Classifications

rs_201564869

2 SubmittersRCV001412970 RCV001727851

NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His)

SNV
Germline

Chr7:4791336

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

rs_201677317

4 SubmittersRCV001396113 RCV001847258 RCV001581117 RCV003938666

NM_015046.7(SETX):c.719-4A>G

SNV
Germline

Chr9:132334731

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775443601

4 SubmittersRCV001411304 RCV001847266 RCV002377642 RCV003883630

NM_020944.3(GBA2):c.964C>T (p.Leu322=)

SNV
Germline

Chr9:35740887

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_150861266

2 SubmittersRCV001847263 RCV001405871

NM_014363.6(SACS):c.7275A>G (p.Arg2425=)

SNV
Germline

Chr13:23336601

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_761313165

2 SubmittersRCV001411225 RCV001847265

NM_014363.6(SACS):c.6978C>G (p.Ala2326=)

SNV
Germline

Chr13:23336898

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2137604768

2 SubmittersRCV001397675 RCV001847259

NM_014363.6(SACS):c.4749A>G (p.Pro1583=)

SNV
Germline

Chr13:23339127

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_760512075

2 SubmittersRCV001404982 RCV001847262

NM_014363.6(SACS):c.2814T>C (p.Ile938=)

SNV
Germline

Chr13:23341062

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_909826115

2 SubmittersRCV001414803 RCV001847267

NM_015346.4(ZFYVE26):c.2553+8G>A

SNV
Germline

Chr14:67793600

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1355900379

2 SubmittersRCV001398264 RCV001847260

NM_015346.4(ZFYVE26):c.540C>T (p.Asp180=)

SNV
Germline

Chr14:67807744

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_150289689

2 SubmittersRCV001398753 RCV001847261

NM_025137.4(SPG11):c.891G>A (p.Leu297=)

SNV
Germline

Chr15:44652245

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_765967405

2 SubmittersRCV001418779 RCV001847268

NM_001244008.2(KIF1A):c.3585-4A>G

SNV
Germline

Chr2:240742988

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_755269372

3 SubmittersRCV002456694 RCV001424244 RCV001847270

NM_001244008.2(KIF1A):c.1725C>T (p.Tyr575=)

SNV
Germline

Chr2:240765753

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_772063378

3 SubmittersRCV001439442 RCV001847274 RCV004533734

NM_001244008.2(KIF1A):c.843C>A (p.Val281=)

SNV
Germline

Chr2:240783065

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_367790793

3 SubmittersRCV001441234 RCV001751766 RCV002449187

NM_152415.3(VPS37A):c.642+10G>A

SNV
Germline

Chr8:17274968

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 53
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_531893337

2 SubmittersRCV001433130 RCV001847273

NM_006459.4(ERLIN1):c.789A>G (p.Glu263=)

SNV
Germline

Chr10:100154896

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 62

Criteria Provided
Conflicting Classifications

rs_759786446

2 SubmittersRCV001847271 RCV001425182

NM_025137.4(SPG11):c.4674G>C (p.Leu1558=)

SNV
Germline

Chr15:44592400

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376125033

3 SubmittersRCV001443013 RCV001847275 RCV003399231

NM_025137.4(SPG11):c.2067+7A>G

SNV
Germline

Chr15:44628662

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1360895808

2 SubmittersRCV001431188 RCV004809601

NM_001166114.2(PNPLA6):c.3281-4G>A

SNV
Germline

Chr19:7557164

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_555997335

2 SubmittersRCV001422821 RCV001847269

NM_001244008.2(KIF1A):c.2978-6C>T

SNV
Germline

Chr2:240747327

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755569458

2 SubmittersRCV001476204 RCV004809632

NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)

SNV
Germline

Chr10:95637383

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767594147

3 SubmittersRCV003771437 RCV001847277 RCV001531078

NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)

SNV
Germline

Chr13:23335082

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_370913893

2 SubmittersRCV001477618 RCV001847279

NM_001160148.2(DDHD1):c.941A>G (p.Asn314Ser)

SNV
Germline

Chr14:53103754

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_148836546

2 SubmittersRCV001476760 RCV001509457

NM_025137.4(SPG11):c.2727T>C (p.Tyr909=)

SNV
Germline

Chr15:44620297

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_759432908

2 SubmittersRCV001455442 RCV001847276

NM_001244008.2(KIF1A):c.1949+7C>T

SNV
Germline

Chr2:240763159

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified

Criteria Provided
Conflicting Classifications

rs_555750413

5 SubmittersRCV001573666 RCV001484184 RCV001820183

NM_014844.5(TECPR2):c.1125C>T (p.Val375=)

SNV
Germline

Chr14:102431836

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_144187959

3 SubmittersRCV001486560 RCV004584914 RCV001847282

NM_014844.5(TECPR2):c.1704T>G (p.Thr568=)

SNV
Germline

Chr14:102434521

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_749355080

3 SubmittersRCV001482809 RCV001847280

NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=)

SNV
Germline

Chr14:102498137

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_777406369

3 SubmittersRCV001484567 RCV001847281

NM_025137.4(SPG11):c.6193T>C (p.Ser2065Pro)

SNV
Germline

Chr15:44573559

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

rs_568406743

3 SubmittersRCV001489562 RCV002562725 RCV004749702

NM_025137.4(SPG11):c.2068-4C>T

SNV
Germline

Chr15:44626511

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774288495

2 SubmittersRCV001504436 RCV002421155

NM_014946.4(SPAST):c.109G>C (p.Gly37Arg)

SNV
Germline

Chr2:32063940

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_771455657

2 SubmittersRCV001507556 RCV001882543

NM_014855.3(AP5Z1):c.854G>A (p.Arg285His)

SNV
Germline

Chr7:4784971

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374794960

3 SubmittersRCV001508569 RCV002564251 RCV004952963

NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)

SNV
Germline

Chr9:132327175

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_376678876

3 SubmittersRCV001509375 RCV001847286 RCV002564285

NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)

SNV
Germline

Chr13:23332627

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_376188585

6 SubmittersRCV001507814 RCV001865926 RCV001785821 RCV001847284

NM_020435.4(GJC2):c.285G>A (p.Leu95=)

SNV
Germline

Chr1:228158043

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
GJC2-related disorder

Criteria Provided
Conflicting Classifications

rs_148764840

3 SubmittersRCV001514768 RCV001847290 RCV003908827

NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)

SNV
Germline

Chr2:196843946

Conflicting classifications of pathogenicity

Intellectual disability, autosomal recessive 42
Hereditary spastic paraplegia
Inborn genetic diseases
PGAP1-related disorder

Criteria Provided
Conflicting Classifications

rs_138036688

4 SubmittersRCV001520621 RCV001847294 RCV003284363 RCV003931120

NM_014363.6(SACS):c.3637T>C (p.Leu1213=)

SNV
Germline

Chr13:23340239

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
not specified
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_577638741

6 SubmittersRCV001517041 RCV001727865 RCV001724329 RCV001836434 RCV001847292

NM_014946.4(SPAST):c.1091G>T (p.Arg364Met)

SNV
Germline

Chr2:32116205

Likely pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

rs_1553315355

1 SubmittersRCV001528133

NM_004722.4(AP4M1):c.1137+1G>T

SNV
Germline

Chr7:100106515

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 50
Spastic paraplegia
AP4M1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_770705832

10 SubmittersRCV001528225 RCV001810068 RCV001849519 RCV003399328

NM_014855.3(AP5Z1):c.1312-2A>G

SNV
Germline

Chr7:4787632

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_989538601

3 SubmittersRCV001529809 RCV002469403

NM_001244008.2(KIF1A):c.3931G>A (p.Glu1311Lys)

SNV
Germline

Chr2:240737139

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

rs_778239281

2 SubmittersRCV001532440 RCV001873777

NM_014846.4(WASHC5):c.2380-6T>C

SNV
Germline

Chr8:125047337

Conflicting classifications of pathogenicity

Condition: not provided
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

rs_375887732

2 SubmittersRCV001531090 RCV002568186

NM_003119.4(SPG7):c.1728G>A (p.Ser576=)

SNV
Germline

Chr16:89550558

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_369686424

3 SubmittersRCV001531868 RCV001847299 RCV002070386

NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)

SNV
Germline

Chr17:5020827

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_759048539

3 SubmittersRCV001847300 RCV001532295 RCV003745340

NM_014946.4(SPAST):c.1537-8T>G

SNV
Somatic

Chr2:32143328

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

rs_2148759354

1 SubmittersRCV001533203

NM_014946.4(SPAST):c.1414-2A>T

SNV
Somatic

Chr2:32137107

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

rs_1553318304

1 SubmittersRCV001533204

NM_014946.4(SPAST):c.1729-1G>C

SNV
Somatic

Chr2:32154373

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

rs_1064793976

1 SubmittersRCV001533206

NM_021830.5(TWNK):c.689G>T (p.Gly230Val)

SNV
Germline

Chr10:100988899

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_142978552

4 SubmittersRCV001541221 RCV001847301

NM_004984.4(KIF5A):c.687T>A (p.Tyr229Ter)

SNV
Germline

Chr12:57567591

Likely pathogenic

Hereditary spastic paraplegia 10

No Assertion Criteria Provided

rs_2140161617

1 SubmittersRCV001542684

NM_014844.5(TECPR2):c.2753-1G>A

SNV
Germline

Chr14:102443646

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_1276623521

2 SubmittersRCV001542482

NM_014844.5(TECPR2):c.3789+1G>C

SNV
Germline

Chr14:102465290

Likely pathogenic

Hereditary spastic paraplegia 49

No Assertion Criteria Provided

rs_2139771776

1 SubmittersRCV001542483

NM_024306.5(FA2H):c.798C>G (p.Asp266Glu)

SNV
Germline

Chr16:74716588

Likely pathogenic

Hereditary spastic paraplegia 35

No Assertion Criteria Provided

rs_771402018

1 SubmittersRCV001542492

NM_014946.4(SPAST):c.430C>T (p.Gln144Ter)

SNV
Germline

Chr2:32087506

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553399476

2 SubmittersRCV001543548 RCV003523096

NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp)

SNV
Germline

Chr2:240719841

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_746442427

3 SubmittersRCV001556588 RCV001847302 RCV001882639

NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu)

SNV
Germline

Chr19:7556463

Pathogenic

Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_541098659

2 SubmittersRCV001559127 RCV001859389

NM_002860.4(ALDH18A1):c.1363T>C (p.Leu455=)

SNV
Germline

Chr10:95621135

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_753823851

2 SubmittersRCV001560669 RCV001847303

NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr1:228166123

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_778374267

2 SubmittersRCV001568023 RCV002569041

NM_014855.3(AP5Z1):c.970-12C>G

SNV
Germline

Chr7:4785510

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_372506896

2 SubmittersRCV001567464 RCV002072180

NM_015915.5(ATL1):c.1051A>G (p.Thr351Ala)

SNV
Germline

Chr14:50623180

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

rs_2140234793

2 SubmittersRCV001564203 RCV002568431

NM_015915.5(ATL1):c.766C>G (p.His256Asp)

SNV
Germline

Chr14:50614415

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

rs_2140226921

2 SubmittersRCV001569594 RCV001866014

NM_024989.3(PGAP1):c.-94G>A

SNV
Germline

Chr2:196926710

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_186535521

2 SubmittersRCV001576563 RCV001847305

NM_001244008.2(KIF1A):c.4585G>T (p.Ala1529Ser)

SNV
Germline

Chr2:240722536

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_572923181

3 SubmittersRCV001575171 RCV001866059 RCV004039435

NM_001166114.2(PNPLA6):c.3531G>C (p.Trp1177Cys)

SNV
Germline

Chr19:7558983

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_150230845

2 SubmittersRCV001576030 RCV002569083

NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)

SNV
Germline

Chr9:132328188

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
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

rs_62576475

6 SubmittersRCV001579904 RCV001847306 RCV002458544 RCV003234085 RCV003771763 RCV003234084

NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)

SNV
Germline

Chr16:89531970

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_537421502

5 SubmittersRCV001585089 RCV001847308 RCV003771770

NM_001244008.2(KIF1A):c.3602G>A (p.Arg1201His)

SNV
Germline

Chr2:240742967

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_765118465

2 SubmittersRCV001658948 RCV001882758

NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)

SNV
Germline

Chr13:23338246

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_772866081

4 SubmittersRCV001663558 RCV001832845 RCV001847316 RCV002538572

NM_014946.4(SPAST):c.1322-1G>T

SNV
Germline

Chr2:32136876

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1365753930

2 SubmittersRCV001663583 RCV003633593

NM_020435.4(GJC2):c.*157G>A

SNV
Germline

Chr1:228159235

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_45491398

2 SubmittersRCV001667996 RCV001847317

NM_001160148.2(DDHD1):c.1842+1G>A

SNV
Germline

Chr14:53061125

Likely pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

rs_2139861782

1 SubmittersRCV001728084

NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)

SNV
Germline

Chr1:113901237

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

rs_762612591

3 SubmittersRCV001730199 RCV002539788

NM_001244008.2(KIF1A):c.1270G>A (p.Ala424Thr)

SNV
Germline

Chr2:240771042

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_749112240

2 SubmittersRCV001732602 RCV002073974

NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)

SNV
Germline

Chr16:89553797

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_776380988

2 SubmittersRCV001754082 RCV001847324

NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp)

SNV
Germline

Chr2:240719907

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_202072706

2 SubmittersRCV001758059 RCV002032790

NM_014844.5(TECPR2):c.1666A>G (p.Met556Val)

SNV
Germline

Chr14:102434483

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 49
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201791953

3 SubmittersRCV001770857 RCV002540287 RCV002544011

NM_014946.4(SPAST):c.1031T>G (p.Ile344Arg)

SNV
Unknown

Chr2:32116145

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_121908513

1 SubmittersRCV001754545

NM_002361.4(MAG):c.600A>T (p.Ser200=)

SNV
Germline

Chr19:35299738

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 75

Criteria Provided
Conflicting Classifications

rs_200695849

3 SubmittersRCV001754937 RCV002540378

NM_015046.7(SETX):c.2543T>G (p.Val848Gly)

SNV
Germline

Chr9:132329055

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_567711722

5 SubmittersRCV001758833 RCV001847330 RCV002540424 RCV003446904 RCV004536293

NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter)

SNV
Germline

Chr9:128625141

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2131938862

2 SubmittersRCV001763569 RCV004785300

NM_001244008.2(KIF1A):c.3100C>T (p.Arg1034Cys)

SNV
Germline

Chr2:240746141

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_1036143999

2 SubmittersRCV001771427 RCV001868617

NM_001244008.2(KIF1A):c.4068C>T (p.Asn1356=)

SNV
Germline

Chr2:240726880

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_1481460597

2 SubmittersRCV001766020 RCV002077199

NM_014946.4(SPAST):c.1817G>A (p.Arg606His)

SNV
Germline

Chr2:32154462

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_768077366

2 SubmittersRCV001771832

NM_001244008.2(KIF1A):c.3605G>A (p.Arg1202His)

SNV
Germline

Chr2:240742964

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_770764947

2 SubmittersRCV001779680 RCV001885145

NM_014855.3(AP5Z1):c.1323G>A (p.Trp441Ter)

SNV
Germline

Chr7:4787645

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_1233553130

1 SubmittersRCV001784677

NM_025137.4(SPG11):c.6999+1G>C

SNV
Germline

Chr15:44565853

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_1191614292

2 SubmittersRCV001785015 RCV003600419

NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)

SNV
Germline

Chr16:89524044

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_370777371

5 SubmittersRCV001785019 RCV004809673

NM_003119.4(SPG7):c.1936+2T>A

SNV
Germline

Chr16:89553137

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567933730

2 SubmittersRCV001783796

NM_001244008.2(KIF1A):c.5086C>A (p.Arg1696Ser)

SNV
Germline

Chr2:240719134

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_772521110

2 SubmittersRCV001797487 RCV001885228

NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln)

SNV
Germline

Chr7:4784986

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_778734781

3 SubmittersRCV001799542 RCV004953068

NM_031448.6(C19orf12):c.152T>C (p.Leu51Pro)

SNV
Germline

Chr19:29708262

Likely pathogenic

Hereditary spastic paraplegia 43

Criteria Provided
Single Submitter

rs_2145639419

1 SubmittersRCV001806376

NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)

SNV
Germline

Chr1:109627793

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
not specified

Criteria Provided
Conflicting Classifications

rs_776868175

3 SubmittersRCV001806390 RCV002542417 RCV004770209

NM_025137.4(SPG11):c.6778C>T (p.Gln2260Ter)

SNV
Germline

Chr15:44566282

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2140914403

1 SubmittersRCV001806432

NM_025137.4(SPG11):c.6999+1G>A

SNV
Germline

Chr15:44565853

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1191614292

3 SubmittersRCV001808231 RCV002361066

NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter)

SNV
Germline

Chr1:113896309

Pathogenic

Hereditary spastic paraplegia 47

No Assertion Criteria Provided

rs_771888480

1 SubmittersRCV001815636

NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter)

SNV
Germline

Chr1:113896403

Pathogenic

Hereditary spastic paraplegia 47

No Assertion Criteria Provided

rs_114201291

1 SubmittersRCV001816566

NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr)

SNV
Unknown

Chr2:32137188

Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Single Submitter

rs_2148754411

2 SubmittersRCV001822087 RCV002473302

NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro)

SNV
Germline

Chr16:89531991

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_1031614168

2 SubmittersRCV001822165 RCV004764972

NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)

SNV
Germline

Chr1:113899974

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

rs_763730264

4 SubmittersRCV001822290 RCV001847336 RCV003346698

NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)

SNV
Germline

Chr8:37744656

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200292614

4 SubmittersRCV003588770 RCV001817270 RCV001847337 RCV003434323

NM_001244008.2(KIF1A):c.4812C>T (p.Thr1604=)

SNV
Germline

Chr2:240720970

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_76974316

2 SubmittersRCV001817320 RCV003772288

NM_001371279.1(REEP1):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr2:86232670

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2104051740

1 SubmittersRCV001847503

NM_001253852.3(AP4B1):c.924A>G (p.Pro308=)

SNV
Germline

Chr1:113900094

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

rs_1256078127

2 SubmittersRCV001847505 RCV002545256

NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln)

SNV
Germline

Chr19:45489370

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369158895

3 SubmittersRCV001847507 RCV003365459 RCV003328486

NM_014363.6(SACS):c.11363G>A (p.Arg3788His)

SNV
Germline

Chr13:23332513

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

rs_147369196

4 SubmittersRCV001847516 RCV002543356 RCV002543357 RCV003226495

NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys)

SNV
Germline

Chr13:23331295

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1486450052

2 SubmittersRCV001847518 RCV002543358

NM_014363.6(SACS):c.12835C>G (p.Leu4279Val)

SNV
Germline

Chr13:23331041

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_537725928

2 SubmittersRCV001847519 RCV002543359

NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn)

SNV
Germline

Chr13:23331022

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_371935764

2 SubmittersRCV001847520 RCV002543360

NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)

SNV
Germline

Chr13:23330908

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_150225486

4 SubmittersRCV001847521 RCV002473306 RCV002543361

NM_014363.6(SACS):c.21-6C>A

SNV
Germline

Chr13:23375275

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_767048737

2 SubmittersRCV001847526 RCV003750876

NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)

SNV
Germline

Chr13:23341312

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_142037771

3 SubmittersRCV001847529 RCV002482393 RCV002543362

NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser)

SNV
Germline

Chr13:23339759

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_61326562

1 SubmittersRCV001847534

NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu)

SNV
Germline

Chr13:23339758

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_61548169

1 SubmittersRCV001847535

NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr)

SNV
Germline

Chr13:23337499

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_373982540

2 SubmittersRCV001847541 RCV002543363

NM_014363.6(SACS):c.8450C>T (p.Thr2817Met)

SNV
Germline

Chr13:23335426

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_371652968

2 SubmittersRCV001847547 RCV002543365

NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)

SNV
Germline

Chr13:23335292

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137590717

3 SubmittersRCV001847548 RCV002543366 RCV004815647

NM_015046.7(SETX):c.1227A>G (p.Leu409=)

SNV
Germline

Chr9:132330371

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified

Criteria Provided
Conflicting Classifications

rs_769913556

4 SubmittersRCV001847553 RCV002227284 RCV002543367 RCV004998965

NM_015046.7(SETX):c.2427C>G (p.Ile809Met)

SNV
Germline

Chr9:132329171

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_765654690

2 SubmittersRCV001847558 RCV003772374

NM_015046.7(SETX):c.304A>G (p.Thr102Ala)

SNV
Germline

Chr9:132346345

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770962447

3 SubmittersRCV001848119 RCV002034740 RCV002449445

NM_015046.7(SETX):c.3555G>A (p.Gln1185=)

SNV
Germline

Chr9:132328043

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_762171056

2 SubmittersRCV001848120 RCV002077332

NM_015046.7(SETX):c.43A>G (p.Ile15Val)

SNV
Germline

Chr9:132349386

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_151040199

3 SubmittersRCV001848122 RCV002034741 RCV003234117 RCV003234118

NM_015046.7(SETX):c.5973C>T (p.Asp1991=)

SNV
Germline

Chr9:132296005

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_1210056357

2 SubmittersRCV001848124 RCV003772375

NM_015046.7(SETX):c.6024T>C (p.Pro2008=)

SNV
Germline

Chr9:132295954

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_1045096306

4 SubmittersRCV001848125 RCV002074408 RCV004536353 RCV004998966

NM_015046.7(SETX):c.77C>T (p.Pro26Leu)

SNV
Germline

Chr9:132349352

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_377617692

2 SubmittersRCV001848131 RCV003120722

NM_014946.4(SPAST):c.1005-1G>C

SNV
Germline

Chr2:32116118

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_1553315318

1 SubmittersRCV001848138

NM_014946.4(SPAST):c.1091G>C (p.Arg364Thr)

SNV
Germline

Chr2:32116205

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_1553315355

1 SubmittersRCV001848140

NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)

SNV
Germline

Chr2:32127000

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573139616

2 SubmittersRCV001848142 RCV002543369

NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)

SNV
Germline

Chr2:32128443

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_1553317030

1 SubmittersRCV001848144

NM_014946.4(SPAST):c.1321+1G>T

SNV
Germline

Chr2:32136639

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2148753724

1 SubmittersRCV001848148

NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter)

SNV
Germline

Chr2:32136900

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2148753960

1 SubmittersRCV001848151

NM_014946.4(SPAST):c.1361A>G (p.Glu454Gly)

SNV
Germline

Chr2:32136916

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2148753986

1 SubmittersRCV001848152

NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)

SNV
Germline

Chr2:32141946

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553319093

2 SubmittersRCV001848157 RCV002478078

NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)

SNV
Germline

Chr2:32064192

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553394620

2 SubmittersRCV001848165 RCV002543370

NM_014946.4(SPAST):c.871-1G>A

SNV
Germline

Chr2:32115701

Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057524526

2 SubmittersRCV001848174 RCV003132544

NM_025137.4(SPG11):c.1435C>T (p.Gln479Ter)

SNV
Germline

Chr15:44651512

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2141105806

1 SubmittersRCV001848177

NM_025137.4(SPG11):c.2570G>A (p.Trp857Ter)

SNV
Germline

Chr15:44621809

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2141027825

1 SubmittersRCV001848186

NM_025137.4(SPG11):c.3036C>A (p.Tyr1012Ter)

SNV
Germline

Chr15:44615365

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2083566245

1 SubmittersRCV001848191

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

rs_370282739

3 SubmittersRCV001848193 RCV001885409 RCV002468335 RCV002468336

NM_025137.4(SPG11):c.6780G>A (p.Gln2260=)

SNV
Germline

Chr15:44566280

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_770643416

2 SubmittersRCV001848204 RCV002074409

NM_016630.7(SPG21):c.153T>C (p.Pro51=)

SNV
Germline

Chr15:64980936

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Mast syndrome

Criteria Provided
Conflicting Classifications

rs_771940904

2 SubmittersRCV001848213 RCV002543373

NM_016630.7(SPG21):c.243T>C (p.Tyr81=)

SNV
Germline

Chr15:64976538

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Mast syndrome

Criteria Provided
Conflicting Classifications

rs_373904630

2 SubmittersRCV001848216 RCV002543375

NM_016630.7(SPG21):c.613C>T (p.Gln205Ter)

SNV
Germline

Chr15:64969311

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_2140415380

1 SubmittersRCV001848220

NM_016630.7(SPG21):c.64A>G (p.Ile22Val)

SNV
Germline

Chr15:64981025

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Mast syndrome

Criteria Provided
Conflicting Classifications

rs_146092558

2 SubmittersRCV001848221 RCV002543378

NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)

SNV
Germline

Chr16:89550560

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

rs_1329063851

3 SubmittersRCV001848232 RCV001885410 RCV003331216

NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr)

SNV
Germline

Chr16:89553805

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_769602042

1 SubmittersRCV001848235

NM_003119.4(SPG7):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr16:89510550

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_146115797

2 SubmittersRCV001848240 RCV003617944

NM_003119.4(SPG7):c.618+8A>G

SNV
Germline

Chr16:89524255

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_768740995

2 SubmittersRCV001848242 RCV002074410

NM_003119.4(SPG7):c.878C>T (p.Ala293Val)

SNV
Germline

Chr16:89530699

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_201723702

3 SubmittersRCV001848245 RCV001885412

NM_014844.5(TECPR2):c.2394+3A>G

SNV
Germline

Chr14:102435214

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
TECPR2-related disorder
Hereditary spastic paraplegia 49

Criteria Provided
Conflicting Classifications

rs_776681603

4 SubmittersRCV003401754 RCV001848252 RCV003923336 RCV002545261

NM_014844.5(TECPR2):c.708A>G (p.Ser236=)

SNV
Germline

Chr14:102425048

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2139716000

2 SubmittersRCV001848265 RCV003401755

NM_015346.4(ZFYVE26):c.1944T>C (p.His648=)

SNV
Germline

Chr14:67798318

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1466130502

2 SubmittersRCV002077333 RCV001848287

NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe)

SNV
Germline

Chr7:4785595

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_547137141

3 SubmittersRCV001848301 RCV003434330 RCV003992566

NM_015346.4(ZFYVE26):c.4663C>T (p.Leu1555=)

SNV
Germline

Chr14:67780252

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2039462773

2 SubmittersRCV001848302 RCV003588774

NM_015346.4(ZFYVE26):c.5073G>A (p.Val1691=)

SNV
Germline

Chr14:67776008

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2140212459

2 SubmittersRCV001848305 RCV002543383

NM_015346.4(ZFYVE26):c.6897G>A (p.Leu2299=)

SNV
Germline

Chr14:67755140

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_2140184412

2 SubmittersRCV001848312 RCV002074411

NM_002860.4(ALDH18A1):c.1111C>T (p.Arg371Ter)

SNV
Germline

Chr10:95626744

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_775201668

1 SubmittersRCV001848313

NM_014855.3(AP5Z1):c.117G>A (p.Pro39=)

SNV
Germline

Chr7:4781250

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_527642993

2 SubmittersRCV001848314 RCV002543384

NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter)

SNV
Germline

Chr7:4788242

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_1342590804

1 SubmittersRCV001848317

NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=)

SNV
Germline

Chr7:4788909

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_761290075

2 SubmittersRCV001848320 RCV002545266

NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=)

SNV
Germline

Chr7:4781304

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_750818039

2 SubmittersRCV001848322 RCV003598062

NM_014855.3(AP5Z1):c.2289G>C (p.Val763=)

SNV
Germline

Chr7:4791250

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_925870726

2 SubmittersRCV001848329 RCV002034750

NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)

SNV
Germline

Chr10:95621163

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_771965130

2 SubmittersRCV001848330 RCV003772376

NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter)

SNV
Germline

Chr7:4781659

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_767325342

1 SubmittersRCV001848333

NM_014855.3(AP5Z1):c.699A>G (p.Thr233=)

SNV
Germline

Chr7:4784280

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_761636459

2 SubmittersRCV001848339 RCV002543389

NM_014855.3(AP5Z1):c.948G>C (p.Gly316=)

SNV
Germline

Chr7:4785431

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_769272823

2 SubmittersRCV001848340 RCV002543390

NM_002860.4(ALDH18A1):c.454-9A>G

SNV
Germline

Chr10:95637206

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_775098819

2 SubmittersRCV001848354 RCV003772377

NM_152269.5(MTRFR):c.333C>A (p.Ile111=)

SNV
Germline

Chr12:123256863

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 7
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769551356

3 SubmittersRCV002543393 RCV001848360 RCV003394280

NM_031448.6(C19orf12):c.180G>C (p.Leu60=)

SNV
Germline

Chr19:29702958

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 43

Criteria Provided
Conflicting Classifications

rs_762116472

2 SubmittersRCV001848365 RCV002543394

NM_183075.3(CYP2U1):c.1288+1G>A

SNV
Germline

Chr4:107947538

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_781551534

1 SubmittersRCV001848371

NM_183075.3(CYP2U1):c.888T>C (p.Ser296=)

SNV
Germline

Chr4:107945367

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_369116680

2 SubmittersRCV001848378 RCV002543395

NM_001160148.2(DDHD1):c.1142-7T>C

SNV
Germline

Chr14:53091939

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

rs_748714439

2 SubmittersRCV001848389 RCV003120723

NM_001160148.2(DDHD1):c.684T>C (p.Asp228=)

SNV
Germline

Chr14:53152415

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

rs_1382953265

2 SubmittersRCV001848398 RCV002543398

NM_001160148.2(DDHD1):c.960G>A (p.Gln320=)

SNV
Germline

Chr14:53103735

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

rs_2139724476

2 SubmittersRCV001848400 RCV002077334

NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg)

SNV
Germline

Chr8:38234566

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 54

Criteria Provided
Conflicting Classifications

rs_201121892

2 SubmittersRCV001848406 RCV002543399

NM_015214.3(DDHD2):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr8:38245749

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

rs_764638887

2 SubmittersRCV001848409 RCV003388054

NM_006459.4(ERLIN1):c.315C>T (p.Ile105=)

SNV
Germline

Chr10:100176060

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 62

Criteria Provided
Conflicting Classifications

rs_373926474

2 SubmittersRCV001848427 RCV003772380

NM_006459.4(ERLIN1):c.762C>A (p.Ala254=)

SNV
Germline

Chr10:100154923

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 62

Criteria Provided
Conflicting Classifications

rs_143495333

2 SubmittersRCV001848429 RCV002074412

NM_024306.5(FA2H):c.227G>A (p.Trp76Ter)

SNV
Germline

Chr16:74774529

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

rs_1225330805

1 SubmittersRCV001848434

NM_020944.3(GBA2):c.1848T>C (p.Asp616=)

SNV
Germline

Chr9:35738851

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_766509602

2 SubmittersRCV001848440 RCV002545270

NM_020944.3(GBA2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr9:35748704

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770566458

3 SubmittersRCV001848441 RCV003226496 RCV004793530

NM_020944.3(GBA2):c.300C>G (p.Pro100=)

SNV
Germline

Chr9:35748405

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_202140393

2 SubmittersRCV001848442 RCV003750877

NM_020919.4(ALS2):c.2583A>G (p.Ala861=)

SNV
Germline

Chr2:201729181

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_1260262428

2 SubmittersRCV001848452 RCV003611563

NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)

SNV
Germline

Chr8:125032300

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

rs_554772608

2 SubmittersRCV001848473 RCV002543403

NM_001244008.2(KIF1A):c.1740A>G (p.Lys580=)

SNV
Germline

Chr2:240765738

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_2051091768

2 SubmittersRCV001848476 RCV002077335

NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu)

SNV
Germline

Chr2:240722526

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_779578515

2 SubmittersRCV001848482 RCV003772385

NM_001244008.2(KIF1A):c.5274C>T (p.Ser1758=)

SNV
Germline

Chr2:240718109

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_899778611

3 SubmittersRCV001848486 RCV002074413 RCV004738395

NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln)

SNV
Germline

Chr2:240717371

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_1349426679

3 SubmittersRCV001848487 RCV002343879 RCV002034762

NM_001244008.2(KIF1A):c.799-5C>T

SNV
Germline

Chr2:240783114

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_1328471853

3 SubmittersRCV001848490 RCV002074414 RCV004536355

NM_006612.6(KIF1C):c.1023T>C (p.Tyr341=)

SNV
Germline

Chr17:5004858

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_758863136

2 SubmittersRCV001848492 RCV002543404

NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr)

SNV
Germline

Chr17:5006947

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_755935386

3 SubmittersRCV001848493 RCV002543406 RCV002543405

NM_006612.6(KIF1C):c.1292C>T (p.Thr431Met)

SNV
Germline

Chr17:5007041

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139663513

3 SubmittersRCV002034763 RCV001848494 RCV004693779

NM_006612.6(KIF1C):c.702G>C (p.Thr234=)

SNV
Germline

Chr17:5002824

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_150944204

2 SubmittersRCV001848515 RCV003583200

NM_004984.4(KIF5A):c.1173C>T (p.Ala391=)

SNV
Germline

Chr12:57570042

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_780381269

2 SubmittersRCV001848517 RCV002074416

NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys)

SNV
Germline

Chr12:57576852

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_749616160

2 SubmittersRCV001885416 RCV001848519

NM_001278116.2(L1CAM):c.198-8G>A

SNV
Germline

ChrX:153872362

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_201664558

2 SubmittersRCV001848530 RCV003772387

NM_001278116.2(L1CAM):c.2209-9C>T

SNV
Germline

ChrX:153866880

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_201704250

2 SubmittersRCV001848532 RCV002543409

NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=)

SNV
Germline

ChrX:153864879

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_200863731

2 SubmittersRCV001848534 RCV003772388

NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=)

SNV
Germline

ChrX:153864867

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_149420127

3 SubmittersRCV001848536 RCV003434331 RCV003588775

NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys)

SNV
Germline

ChrX:153864475

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_782180684

2 SubmittersRCV001848537 RCV003588776

NM_001278116.2(L1CAM):c.401-7C>G

SNV
Germline

ChrX:153871186

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1424993007

2 SubmittersRCV001848538 RCV003588777

NM_144599.5(NIPA1):c.222C>T (p.Ile74=)

SNV
Germline

Chr15:22810792

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

rs_778472114

2 SubmittersRCV001848541 RCV002543410

NM_144599.5(NIPA1):c.479-7G>T

SNV
Germline

Chr15:22823721

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 6
NIPA1-related disorder

Criteria Provided
Conflicting Classifications

rs_758551462

3 SubmittersRCV001848542 RCV002543411 RCV003968587

NM_001351169.2(NT5C2):c.176-10C>T

SNV
Germline

Chr10:103106716

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 45

Criteria Provided
Conflicting Classifications

rs_753603040

2 SubmittersRCV001848546 RCV003772389

NM_001351169.2(NT5C2):c.540-4G>A

SNV
Germline

Chr10:103100023

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 45
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201261415

3 SubmittersRCV001848548 RCV002074417 RCV002543413

NM_024989.4(PGAP1):c.1638A>G (p.Glu546=)

SNV
Germline

Chr2:196872531

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42

Criteria Provided
Conflicting Classifications

rs_142482606

2 SubmittersRCV001848550 RCV002074418

NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)

SNV
Germline

Chr2:196844025

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42

Criteria Provided
Conflicting Classifications

rs_768328398

2 SubmittersRCV001848555 RCV002543416

NM_024989.4(PGAP1):c.492T>G (p.Ala164=)

SNV
Germline

Chr2:196913039

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1246230813

3 SubmittersRCV001848559 RCV002543418 RCV004693780

NM_024989.4(PGAP1):c.585T>C (p.Asn195=)

SNV
Germline

Chr2:196912946

Conflicting classifications of pathogenicity

Intellectual disability, autosomal recessive 42
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1038323136

2 SubmittersRCV002074419 RCV001848560

NM_000533.5(PLP1):c.436C>T (p.Leu146=)

SNV
Germline

ChrX:103786709

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Pelizaeus-Merzbacher disease

Criteria Provided
Conflicting Classifications

rs_2147764616

2 SubmittersRCV001848568 RCV004595631

NM_000533.5(PLP1):c.442C>T (p.His148Tyr)

SNV
Germline

ChrX:103786715

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147764634

3 SubmittersRCV001848569 RCV002286852 RCV002545276

NM_001166114.2(PNPLA6):c.1638C>T (p.Gly546=)

SNV
Germline

Chr19:7549936

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_2146086468

2 SubmittersRCV001848573 RCV003617945

NM_001166114.2(PNPLA6):c.3990C>A (p.Pro1330=)

SNV
Germline

Chr19:7561284

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_535388759

2 SubmittersRCV001848583 RCV002545277

NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)

SNV
Germline

Chr1:113902672

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Multiple Submitters
No Conflicts

rs_777248758

4 SubmittersRCV001849775 RCV002503345

NM_001244008.2(KIF1A):c.3585C>T (p.Ser1195=)

SNV
Germline

Chr2:240742984

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_907370883

2 SubmittersRCV001998162 RCV002442978

NM_001244008.2(KIF1A):c.4045A>C (p.Met1349Leu)

SNV
Germline

Chr2:240726903

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777103421

2 SubmittersRCV002035890 RCV002324474

NM_003119.4(SPG7):c.1324+2T>G

SNV
Germline

Chr16:89532638

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597635592

2 SubmittersRCV002035895

NM_014844.5(TECPR2):c.2578+2T>C

SNV
Germline

Chr14:102438207

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_2139736635

1 SubmittersRCV001988824

NM_001244008.2(KIF1A):c.2078C>T (p.Pro693Leu)

SNV
Germline

Chr2:240762757

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756842462

2 SubmittersRCV001999046 RCV002281207

NM_025137.4(SPG11):c.4498A>G (p.Thr1500Ala)

SNV
Germline

Chr15:44595396

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_758867131

2 SubmittersRCV001990701 RCV002571202

NM_014844.5(TECPR2):c.3686G>A (p.Trp1229Ter)

SNV
Germline

Chr14:102465186

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_2139771589

1 SubmittersRCV001880503

NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)

SNV
Germline

Chr12:57583112

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
Myoclonus, intractable, neonatal
Amyotrophic lateral sclerosis, susceptibility to, 25

Criteria Provided
Conflicting Classifications

rs_751496558

2 SubmittersRCV001924858 RCV002490120

NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala)

SNV
Germline

Chr16:89531977

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_2152403446

1 SubmittersRCV002048850

NM_001244008.2(KIF1A):c.3554C>T (p.Pro1185Leu)

SNV
Germline

Chr2:240743972

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

rs_1316844536

3 SubmittersRCV001950631 RCV002458856 RCV004538660

NM_001244008.2(KIF1A):c.1168G>A (p.Asp390Asn)

SNV
Germline

Chr2:240773126

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1049441176

2 SubmittersRCV001993639 RCV004591672

NM_001166114.2(PNPLA6):c.3355G>C (p.Gly1119Arg)

SNV
Germline

Chr19:7557242

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_773955314

1 SubmittersRCV002015442

NM_025137.4(SPG11):c.6844-2A>G

SNV
Germline

Chr15:44566011

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2140913822

1 SubmittersRCV001985798

NM_025137.4(SPG11):c.1090C>T (p.Gln364Ter)

SNV
Germline

Chr15:44651857

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2141107140

1 SubmittersRCV001939378

NM_014946.4(SPAST):c.1164G>C (p.Lys388Asn)

SNV
Germline

Chr2:32127013

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553316838

1 SubmittersRCV001960564

NM_001244008.2(KIF1A):c.919C>T (p.Arg307Ter)

SNV
Germline

Chr2:240775890

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_369692236

1 SubmittersRCV001941826

NM_025137.4(SPG11):c.1354C>T (p.Leu452Phe)

SNV
Germline

Chr15:44651593

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141396952

2 SubmittersRCV002033882 RCV002386866

NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter)

SNV
Germline

Chr1:113900033

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

rs_2101024933

1 SubmittersRCV001900134

NM_003119.4(SPG7):c.971T>C (p.Phe324Ser)

SNV
Germline

Chr16:89530792

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

rs_2152402791

1 SubmittersRCV001884295

NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)

SNV
Germline

Chr2:32064171

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553394608

3 SubmittersRCV001960327 RCV003482387

NM_014946.4(SPAST):c.415+1G>A

SNV
Germline

Chr2:32064247

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1057521135

1 SubmittersRCV001960331

NM_014946.4(SPAST):c.1163A>G (p.Lys388Arg)

SNV
Germline

Chr2:32127012

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553316837

1 SubmittersRCV001960346

NM_025137.4(SPG11):c.6585+2T>G

SNV
Germline

Chr15:44569396

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2140920796

1 SubmittersRCV002033719

NM_025137.4(SPG11):c.6452C>G (p.Ala2151Gly)

SNV
Germline

Chr15:44570550

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_763676031

2 SubmittersRCV002029756 RCV002545297

NM_025137.4(SPG11):c.6447C>A (p.His2149Gln)

SNV
Germline

Chr15:44570555

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373897153

2 SubmittersRCV002029757 RCV002545298

NM_024306.5(FA2H):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:74774755

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

rs_1962978958

2 SubmittersRCV001880791 RCV003989725

NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser)

SNV
Germline

Chr2:32116195

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553315350

2 SubmittersRCV001911794

NM_001244008.2(KIF1A):c.4592C>T (p.Ser1531Phe)

SNV
Germline

Chr2:240722529

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748858949

2 SubmittersRCV001936242 RCV004591644

NM_004722.4(AP4M1):c.220G>A (p.Val74Ile)

SNV
Germline

Chr7:100102747

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_377178447

2 SubmittersRCV001987553 RCV002562864

NM_015915.5(ATL1):c.997A>G (p.Ile333Val)

SNV
Germline

Chr14:50621849

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_749993404

2 SubmittersRCV001958165 RCV004681349

NM_003119.4(SPG7):c.2290A>G (p.Ile764Val)

SNV
Germline

Chr16:89556995

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_942740771

2 SubmittersRCV001975782 RCV004671579

NM_001244008.2(KIF1A):c.958+1G>C

SNV
Germline

Chr2:240775850

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_780380861

1 SubmittersRCV002002790

NM_025137.4(SPG11):c.258-2A>C

SNV
Germline

Chr15:44660618

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_781665076

2 SubmittersRCV002012964 RCV002458967

NM_014946.4(SPAST):c.1637G>T (p.Gly546Val)

SNV
Germline

Chr2:32144957

Likely pathogenic

Hereditary spastic paraplegia 4
SPAST-related disorder

Criteria Provided
Single Submitter

rs_786204057

2 SubmittersRCV002005404 RCV004753457

NM_014946.4(SPAST):c.1304C>T (p.Pro435Leu)

SNV
Germline

Chr2:32136621

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553318182

1 SubmittersRCV001905076

NM_001371279.1(REEP1):c.106-6C>G

SNV
Germline

Chr2:86264047

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751690452

2 SubmittersRCV001954561 RCV002407083

NM_001166114.2(PNPLA6):c.3296A>G (p.Tyr1099Cys)

SNV
Germline

Chr19:7557183

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_2146110600

1 SubmittersRCV001889812

NM_025137.4(SPG11):c.1171A>G (p.Ile391Val)

SNV
Germline

Chr15:44651776

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145958193

2 SubmittersRCV002036914 RCV004671634

NM_001166114.2(PNPLA6):c.897C>A (p.Tyr299Ter)

SNV
Germline

Chr19:7541024

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_1568408269

1 SubmittersRCV001889568

NM_025137.4(SPG11):c.6586-1G>A

SNV
Germline

Chr15:44567593

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1060501174

1 SubmittersRCV001976351

NM_001244008.2(KIF1A):c.385C>T (p.Arg129Trp)

SNV
Germline

Chr2:240787295

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_868067075

3 SubmittersRCV002042729 RCV002352728 RCV003154055

NM_025137.4(SPG11):c.258-2A>G

SNV
Germline

Chr15:44660618

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_781665076

1 SubmittersRCV002022588

NM_001244008.2(KIF1A):c.3101G>A (p.Arg1034His)

SNV
Germline

Chr2:240746140

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375775494

2 SubmittersRCV001927796 RCV002324309

NM_001244008.2(KIF1A):c.153C>G (p.Ser51Arg)

SNV
Germline

Chr2:240789266

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_919187835

3 SubmittersRCV001959730 RCV003152780 RCV004728963

NM_001244008.2(KIF1A):c.3943G>A (p.Asp1315Asn)

SNV
Germline

Chr2:240737127

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749879166

2 SubmittersRCV002044484 RCV003317537

NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)

SNV
Germline

Chr2:240783777

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_879253888

1 SubmittersRCV001971587

NM_025137.4(SPG11):c.1008-1G>A

SNV
Germline

Chr15:44651940

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2141107413

1 SubmittersRCV002020357

NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)

SNV
Germline

Chr2:240797674

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_2056552812

1 SubmittersRCV002020498

NM_014946.4(SPAST):c.153C>G (p.Tyr51Ter)

SNV
Germline

Chr2:32063984

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1462628095

2 SubmittersRCV001874649

NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter)

SNV
Germline

Chr1:228166151

Pathogenic

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Single Submitter

rs_775646159

1 SubmittersRCV001903204

NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys)

SNV
Germline

Chr2:240719811

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372226807

2 SubmittersRCV001887446 RCV002334834

NM_001244008.2(KIF1A):c.2344A>G (p.Lys782Glu)

SNV
Germline

Chr2:240760765

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_569071678

2 SubmittersRCV001988651 RCV002466732

NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp)

SNV
Germline

Chr16:89553919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1249957920

3 SubmittersRCV001892263 RCV002552317 RCV004728890

NM_004722.4(AP4M1):c.463-2A>T

SNV
Germline

Chr7:100103610

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

rs_750783717

1 SubmittersRCV001977862

NM_025137.4(SPG11):c.668-1G>T

SNV
Germline

Chr15:44657297

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2141121333

1 SubmittersRCV002025794

NM_001244008.2(KIF1A):c.2389G>T (p.Glu797Ter)

SNV
Germline

Chr2:240760720

Pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2125889990

1 SubmittersRCV002007228

NM_025137.4(SPG11):c.4562C>G (p.Ser1521Ter)

SNV
Germline

Chr15:44595332

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1337761270

1 SubmittersRCV002007274

NM_001244008.2(KIF1A):c.4085G>A (p.Arg1362Gln)

SNV
Germline

Chr2:240726863

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_753620726

2 SubmittersRCV001893596 RCV002324291

NM_001371279.1(REEP1):c.460C>T (p.Gln154Ter)

SNV
Germline

Chr2:86232760

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

rs_2104054009

1 SubmittersRCV001994630

NM_014946.4(SPAST):c.1226C>A (p.Ala409Glu)

SNV
Germline

Chr2:32128460

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148746390

1 SubmittersRCV002037743

NM_006070.6(TFG):c.64C>T (p.Arg22Trp)

SNV
Germline

Chr3:100713749

Pathogenic

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57

Criteria Provided
Single Submitter

rs_989357227

1 SubmittersRCV002000010

NM_001166114.2(PNPLA6):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr19:7543082

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_1416173690

1 SubmittersRCV002000047

NM_014946.4(SPAST):c.1005-1G>T

SNV
Germline

Chr2:32116118

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553315318

1 SubmittersRCV002000098

NM_014946.4(SPAST):c.1132C>G (p.Leu378Val)

SNV
Germline

Chr2:32126981

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148744957

1 SubmittersRCV002024525

NM_014946.4(SPAST):c.488T>C (p.Ile163Thr)

SNV
Germline

Chr2:32087564

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748674789

2 SubmittersRCV001997915 RCV004044515

NM_000533.5(PLP1):c.736G>A (p.Gly246Arg)

SNV
Germline

ChrX:103789372

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2147768028

2 SubmittersRCV002004142 RCV003161164

NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met)

SNV
Germline

Chr2:240774189

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125976585

2 SubmittersRCV002035472 RCV002286863

NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)

SNV
Germline

Chr2:240783764

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_1553638086

1 SubmittersRCV002009303

NM_001368809.2(AMPD2):c.1698+1G>A

SNV
Germline

Chr1:109629236

Likely pathogenic

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9

Criteria Provided
Single Submitter

rs_1650988132

1 SubmittersRCV002040456

NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)

SNV
Germline

Chr16:89550532

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_946925151

2 SubmittersRCV001942142

NM_014946.4(SPAST):c.1616+1G>A

SNV
Germline

Chr2:32143416

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553319327

2 SubmittersRCV001962918

NM_001199753.2(CPT1C):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr19:49705962

Pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

rs_780195851

1 SubmittersRCV001942228

NM_001244008.2(KIF1A):c.4334G>A (p.Arg1445His)

SNV
Germline

Chr2:240723543

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765877669

2 SubmittersRCV001895667 RCV004774500

NM_001166114.2(PNPLA6):c.1005+1G>T

SNV
Germline

Chr19:7541435

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_772913881

1 SubmittersRCV001986806

NM_000533.5(PLP1):c.4+1G>A

SNV
Germline

ChrX:103777000

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

rs_2147752783

1 SubmittersRCV002049878

NM_025137.4(SPG11):c.5122-1G>A

SNV
Germline

Chr15:44584559

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2140947703

1 SubmittersRCV002049962

NM_001166114.2(PNPLA6):c.2046C>A (p.Tyr682Ter)

SNV
Germline

Chr19:7550616

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

rs_768438032

1 SubmittersRCV001906315

NM_025137.4(SPG11):c.3997A>T (p.Lys1333Ter)

SNV
Germline

Chr15:44598269

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2140976871

1 SubmittersRCV001946942

NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter)

SNV
Germline

Chr1:113899961

Pathogenic

Hereditary spastic paraplegia 47
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_138335735

3 SubmittersRCV001951281 RCV002269382

NM_015915.5(ATL1):c.773A>T (p.His258Leu)

SNV
Germline

Chr14:50614422

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_119476048

1 SubmittersRCV001970209

NM_025137.4(SPG11):c.2678G>A (p.Trp893Ter)

SNV
Germline

Chr15:44620346

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1555455266

1 SubmittersRCV001946848

NM_001166114.2(PNPLA6):c.1039G>A (p.Gly347Ser)

SNV
Germline

Chr19:7541555

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760573469

2 SubmittersRCV002016836 RCV004651908

NM_014946.4(SPAST):c.1260G>T (p.Glu420Asp)

SNV
Germline

Chr2:32136577

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1679543195

1 SubmittersRCV002050789

NM_001244008.2(KIF1A):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr2:240788053

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_1318848388

1 SubmittersRCV001925834

NM_001244008.2(KIF1A):c.4601C>T (p.Ser1534Leu)

SNV
Germline

Chr2:240722520

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371486580

2 SubmittersRCV001993478 RCV002307821

NM_001244008.2(KIF1A):c.1037+1G>C

SNV
Germline

Chr2:240774182

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2125976529

1 SubmittersRCV001968688

NM_001244008.2(KIF1A):c.1578-2A>G

SNV
Germline

Chr2:240767023

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

rs_2125925871

1 SubmittersRCV002049624

NM_014946.4(SPAST):c.1494-2A>T

SNV
Germline

Chr2:32141902

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1218081251

1 SubmittersRCV001970051

NM_025137.4(SPG11):c.3140T>G (p.Leu1047Ter)

SNV
Germline

Chr15:44613435

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_2141010951

1 SubmittersRCV001946663

NM_000533.5(PLP1):c.453+1G>T

SNV
Germline

ChrX:103786727

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

rs_113345335

1 SubmittersRCV002003058

NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter)

SNV
Germline

Chr8:125075063

Pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Single Submitter

rs_377540152

1 SubmittersRCV002014065

NM_025137.4(SPG11):c.3184C>T (p.Gln1062Ter)

SNV
Germline

Chr15:44610947

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_370252831

1 SubmittersRCV001879364

NM_015915.5(ATL1):c.44C>T (p.Ser15Leu)

SNV
Germline

Chr14:50587840

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_772206990

2 SubmittersRCV001931650 RCV003365579

NM_014855.3(AP5Z1):c.49C>T (p.Gln17Ter)

SNV
Germline

Chr7:4781182

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

rs_765332596

1 SubmittersRCV001956257

NM_014844.5(TECPR2):c.728G>A (p.Trp243Ter)

SNV
Germline

Chr14:102425068

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

rs_2139716064

1 SubmittersRCV001956288

NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter)

SNV
Germline

Chr15:44584282

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1287370710

1 SubmittersRCV001949477

NM_015915.5(ATL1):c.482C>T (p.Ala161Val)

SNV
Germline

Chr14:50591599

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

rs_2140205448

1 SubmittersRCV002030577

NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter)

SNV
Germline

Chr7:100106837

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

rs_772119268

1 SubmittersRCV001971834

NM_014846.4(WASHC5):c.2505-1G>C

SNV
Germline

Chr8:125044699

Likely pathogenic

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

rs_953586472

1 SubmittersRCV001952450

NM_025137.4(SPG11):c.3070A>T (p.Lys1024Ter)

SNV
Germline

Chr15:44613505

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1157530441

1 SubmittersRCV001956077

NM_001244008.2(KIF1A):c.3374+2T>G

SNV
Germline

Chr2:240745736

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_2125791006

1 SubmittersRCV002026094

NM_001244008.2(KIF1A):c.3872G>A (p.Arg1291His)

SNV
Germline

Chr2:240740087

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201653410

3 SubmittersRCV001961724 RCV003134306 RCV002352673

NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr1:113901872

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

rs_1013939776

1 SubmittersRCV001953661

NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp)

SNV
Germline

Chr2:240789246

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_672601362

1 SubmittersRCV002046792

NM_014946.4(SPAST):c.1636G>C (p.Gly546Arg)

SNV
Germline

Chr2:32144956

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148760843

1 SubmittersRCV001918295

NM_001244008.2(KIF1A):c.4874C>T (p.Pro1625Leu)

SNV
Germline

Chr2:240719921

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_567604039

2 SubmittersRCV002334858 RCV001937810

NM_014946.4(SPAST):c.37T>A (p.Ser13Thr)

SNV
Germline

Chr2:32063868

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781222498

2 SubmittersRCV001903520 RCV002473320

NM_025137.4(SPG11):c.5867-1G>A

SNV
Germline

Chr15:44575042

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1060501168

1 SubmittersRCV001963105

NM_000533.5(PLP1):c.205C>T (p.Gln69Ter)

SNV
Germline

ChrX:103786478

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

rs_2147764198

1 SubmittersRCV001963109

NM_025137.4(SPG11):c.50G>A (p.Trp17Ter)

SNV
Germline

Chr15:44663598

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1339135039

1 SubmittersRCV001981585

NM_001244008.2(KIF1A):c.5143G>A (p.Val1715Met)

SNV
Germline

Chr2:240719077

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_766569322

2 SubmittersRCV001992656 RCV004770305

NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)

SNV
Germline

Chr2:240783778

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

rs_762126771

1 SubmittersRCV002003472

NM_001244008.2(KIF1A):c.1844G>A (p.Arg615His)

SNV
Germline

Chr2:240763271

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764578297

2 SubmittersRCV001907727 RCV002406952

NM_001244008.2(KIF1A):c.1670G>T (p.Arg557Met)

SNV
Germline

Chr2:240766929

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773904723

2 SubmittersRCV001973722 RCV003434376

NM_001244008.2(KIF1A):c.3386G>A (p.Arg1129His)

SNV
Germline

Chr2:240745506

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_769283409

3 SubmittersRCV002010998 RCV002243507 RCV002458974

NM_014946.4(SPAST):c.514G>T (p.Glu172Ter)

SNV
Germline

Chr2:32089533

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148710558

1 SubmittersRCV001951595

NM_001244008.2(KIF1A):c.4205C>T (p.Ser1402Leu)

SNV
Germline

Chr2:240725322

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764487659

2 SubmittersRCV001876530 RCV002300602

NM_000533.5(PLP1):c.548C>A (p.Thr183Asn)

SNV
Germline

ChrX:103787892

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
See cases

Criteria Provided
Conflicting Classifications

rs_2147766068

2 SubmittersRCV001916524 RCV003156144

NM_000533.5(PLP1):c.634T>C (p.Trp212Arg)

SNV
Germline

ChrX:103788448

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Conflicting Classifications

rs_2147766937

3 SubmittersRCV001920240 RCV002284976

NM_001244008.2(KIF1A):c.4613G>A (p.Arg1538His)

SNV
Germline

Chr2:240722508

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371195054

2 SubmittersRCV001876398 RCV002334741

NM_001244008.2(KIF1A):c.398C>T (p.Thr133Met)

SNV
Germline

Chr2:240787282

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_548452545

2 SubmittersRCV001940102 RCV002265046

NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter)

SNV
Germline

Chr1:113902757

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

rs_2101044378

1 SubmittersRCV002052046

NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)

SNV
Germline

Chr16:89553060

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_769258044

6 SubmittersRCV002052061 RCV003329432 RCV004729059

NM_001368809.2(AMPD2):c.223-5C>A

SNV
Germline

Chr1:109625657

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764953041

2 SubmittersRCV002183239 RCV003025498

NM_003119.4(SPG7):c.2181+19G>A

SNV
Germline

Chr16:89554582

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201539829

2 SubmittersRCV002115764 RCV002223340

NM_001244008.2(KIF1A):c.2266-4A>C

SNV
Germline

Chr2:240760847

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760023084

2 SubmittersRCV002133952 RCV002443237

NM_001244008.2(KIF1A):c.3203-8C>T

SNV
Germline

Chr2:240745917

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778217414

2 SubmittersRCV002139171 RCV004546711

NM_003119.4(SPG7):c.697C>T (p.Leu233=)

SNV
Germline

Chr16:89526407

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_751353500

2 SubmittersRCV002153985 RCV004774628

NM_014844.5(TECPR2):c.220-4C>A

SNV
Germline

Chr14:102407334

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
not specified

Criteria Provided
Conflicting Classifications

rs_199851151

2 SubmittersRCV002188439 RCV003120834

NM_001166114.2(PNPLA6):c.130C>T (p.Pro44Ser)

SNV
Germline

Chr19:7535918

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_908461148

2 SubmittersRCV002120970 RCV003070588

NM_014855.3(AP5Z1):c.1707+8C>T

SNV
Germline

Chr7:4788959

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

rs_374691049

2 SubmittersRCV002224809 RCV003495261

NM_025137.4(SPG11):c.423C>T (p.Leu141=)

SNV
Germline

Chr15:44660451

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_769960206

2 SubmittersRCV002223691 RCV003774672

NM_014946.4(SPAST):c.1005-2A>C

SNV
Germline

Chr2:32116117

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1553315316

1 SubmittersRCV002225158

NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln)

SNV
Germline

Chr12:57576300

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1360689553

2 SubmittersRCV002225252 RCV003089199

NM_015915.5(ATL1):c.466A>C (p.Thr156Pro)

SNV
Germline

Chr14:50591583

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2140205433

2 SubmittersRCV002248974

NM_024306.5(FA2H):c.506+1G>C

SNV
Germline

Chr16:74727243

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_753097023

2 SubmittersRCV002249972 RCV003094027

NM_001351169.2(NT5C2):c.1403T>C (p.Leu468Pro)

SNV
Germline

Chr10:103090657

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

rs_2134504868

1 SubmittersRCV002250161

NM_014946.4(SPAST):c.1259A>G (p.Glu420Gly)

SNV
Germline

Chr2:32136576

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148753634

1 SubmittersRCV002246738

NM_183075.3(CYP2U1):c.1391C>G (p.Pro464Arg)

SNV
Germline

Chr4:107949452

Pathogenic

Hereditary spastic paraplegia 56

No Assertion Criteria Provided

rs_2126202736

1 SubmittersRCV002248350

NM_025137.4(SPG11):c.6478-2A>C

SNV
Germline

Chr15:44569507

Likely pathogenic

See cases
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082374687

2 SubmittersRCV002252820 RCV003495263

NM_001244008.2(KIF1A):c.4568C>T (p.Ser1523Phe)

SNV
Germline

Chr2:240722553

Conflicting classifications of pathogenicity

See cases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_1157791693

2 SubmittersRCV002253173 RCV003774747

NM_001244008.2(KIF1A):c.4762A>G (p.Thr1588Ala)

SNV
Germline

Chr2:240721020

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_1280317566

2 SubmittersRCV002261728 RCV003101457

NM_001244008.2(KIF1A):c.4057C>T (p.Leu1353Phe)

SNV
Germline

Chr2:240726891

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

rs_865912479

2 SubmittersRCV002261729 RCV003095894

NM_014946.4(SPAST):c.1754T>C (p.Phe585Ser)

SNV
Germline

Chr2:32154399

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_2148769272

1 SubmittersRCV002262167

NM_014946.4(SPAST):c.97C>G (p.Pro33Ala)

SNV
Germline

Chr2:32063928

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

rs_1403480959

2 SubmittersRCV002263201 RCV003633607

NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)

SNV
Germline

Chr15:50997783

Likely pathogenic

Hereditary spastic paraplegia 51

Criteria Provided
Single Submitter

rs_2064899680

1 SubmittersRCV002266440

NM_015214.3(DDHD2):c.1126-2A>G

SNV
Germline

Chr8:38247711

Likely pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

rs_2130822605

2 SubmittersRCV002266477

NM_015346.4(ZFYVE26):c.4846C>T (p.Gln1616Ter)

SNV
Germline

Chr14:67777687

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

rs_2140214976

1 SubmittersRCV002272747

NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)

SNV
Germline

Chr16:89554543

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

rs_2152412388

2 SubmittersRCV002273858

NM_183075.3(CYP2U1):c.769C>T (p.Arg257Ter)

SNV
Germline

Chr4:107945248

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 56

Criteria Provided
Conflicting Classifications

rs_1437641531

2 SubmittersRCV002276124 RCV003340470

NM_001371279.1(REEP1):c.124T>C (p.Trp42Arg)

SNV
Germline

Chr2:86264023

Pathogenic

Hereditary spastic paraplegia 31
Spinal muscular atrophy, distal, autosomal recessive, 6

No Assertion Criteria Provided

1 SubmittersRCV002280598 RCV002280599

NM_014946.4(SPAST):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr2:32089551

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

rs_1677628649

1 SubmittersRCV002281036

NM_001244008.2(KIF1A):c.3919C>T (p.Pro1307Ser)

SNV
Germline

Chr2:240737151

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002283186 RCV003101622

NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)

SNV
Germline

Chr1:109627880

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002283614 RCV003774934

NM_001166114.2(PNPLA6):c.2575C>T (p.Arg859Ter)

SNV
Germline

Chr19:7554664

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV002283751

NM_003119.4(SPG7):c.2102A>C (p.His701Pro)

SNV
Germline

Chr16:89553959

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002283905 RCV004999686

NM_024306.5(FA2H):c.674T>C (p.Leu225Pro)

SNV
Germline

Chr16:74719100

Pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

1 SubmittersRCV002284305

NM_004984.4(KIF5A):c.217G>A (p.Asp73Asn)

SNV
Germline

Chr12:57563526

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

1 SubmittersRCV002289201

NM_001351169.2(NT5C2):c.771+1G>A

SNV
Germline

Chr10:103097290

Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

1 SubmittersRCV002289248

NM_004984.4(KIF5A):c.501+2T>C

SNV
Germline

Chr12:57564975

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

1 SubmittersRCV002290043

NM_014946.4(SPAST):c.1303C>A (p.Pro435Thr)

SNV
Germline

Chr2:32136620

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV002290151

NM_183075.3(CYP2U1):c.640G>T (p.Gly214Ter)

SNV
Germline

Chr4:107945119

Likely pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

1 SubmittersRCV002290222

NM_004984.4(KIF5A):c.129+1G>A

SNV
Germline

Chr12:57550401

Likely pathogenic

Hereditary spastic paraplegia 10

No Assertion Criteria Provided

1 SubmittersRCV002292695

NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)

SNV
Germline

Chr1:228175355

Conflicting classifications of pathogenicity

C1orf69/IBA57-related disorder
Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002302474 RCV003098020

NM_014846.4(WASHC5):c.1120C>T (p.Arg374Ter)

SNV
Germline

Chr8:125073183

Likely pathogenic

Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

1 SubmittersRCV002308504

NM_015346.4(ZFYVE26):c.1198G>T (p.Glu400Ter)

SNV
Unknown

Chr14:67805290

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002306458

NM_015346.4(ZFYVE26):c.1397T>A (p.Leu466Ter)

SNV
Unknown

Chr14:67804139

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002306583

NM_015346.4(ZFYVE26):c.2830C>T (p.Gln944Ter)

SNV
Germline

Chr14:67789524

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002306676 RCV003588806

NM_015346.4(ZFYVE26):c.6219C>A (p.Cys2073Ter)

SNV
Unknown

Chr14:67762353

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002306690

NM_015346.4(ZFYVE26):c.4339A>T (p.Lys1447Ter)

SNV
Unknown

Chr14:67782813

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002306782

NM_015346.4(ZFYVE26):c.6736C>T (p.Gln2246Ter)

SNV
Unknown

Chr14:67755998

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309540

NM_015346.4(ZFYVE26):c.1328C>A (p.Ser443Ter)

SNV
Unknown

Chr14:67804208

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309627

NM_015346.4(ZFYVE26):c.2833G>T (p.Glu945Ter)

SNV
Unknown

Chr14:67789521

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309643

NM_015346.4(ZFYVE26):c.5239C>T (p.Gln1747Ter)

SNV
Unknown

Chr14:67775097

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309727

NM_015346.4(ZFYVE26):c.4540A>T (p.Lys1514Ter)

SNV
Unknown

Chr14:67781362

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309745

NM_015346.4(ZFYVE26):c.2644C>T (p.Gln882Ter)

SNV
Unknown

Chr14:67790683

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309786

NM_015346.4(ZFYVE26):c.3960C>A (p.Cys1320Ter)

SNV
Unknown

Chr14:67783192

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309854

NM_015346.4(ZFYVE26):c.6790C>T (p.Gln2264Ter)

SNV
Unknown

Chr14:67755247

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309873

NM_015346.4(ZFYVE26):c.4522A>T (p.Lys1508Ter)

SNV
Unknown

Chr14:67781380

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309903

NM_015346.4(ZFYVE26):c.741C>A (p.Cys247Ter)

SNV
Unknown

Chr14:67807543

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309971

NM_015346.4(ZFYVE26):c.6659T>A (p.Leu2220Ter)

SNV
Unknown

Chr14:67756075

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309976

NM_015346.4(ZFYVE26):c.4308C>G (p.Tyr1436Ter)

SNV
Unknown

Chr14:67782844

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002307973

NM_015346.4(ZFYVE26):c.2149G>T (p.Gly717Ter)

SNV
Unknown

Chr14:67798113

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002308152

NM_015346.4(ZFYVE26):c.5568C>A (p.Cys1856Ter)

SNV
Unknown

Chr14:67769647

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002308188

NM_015346.4(ZFYVE26):c.4262T>A (p.Leu1421Ter)

SNV
Unknown

Chr14:67782890

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002308245

NM_015346.4(ZFYVE26):c.6331G>T (p.Glu2111Ter)

SNV
Unknown

Chr14:67762241

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002308311

NM_015346.4(ZFYVE26):c.5690C>A (p.Ser1897Ter)

SNV
Germline

Chr14:67767804

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002308347 RCV003750887

NM_015346.4(ZFYVE26):c.7270C>T (p.Gln2424Ter)

SNV
Germline

Chr14:67752445

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002309079 RCV003750888

NM_015346.4(ZFYVE26):c.878C>A (p.Ser293Ter)

SNV
Unknown

Chr14:67807406

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309370

NM_015346.4(ZFYVE26):c.7031T>A (p.Leu2344Ter)

SNV
Unknown

Chr14:67754168

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309462

NM_015346.4(ZFYVE26):c.372T>A (p.Tyr124Ter)

SNV
Unknown

Chr14:67807912

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309480

NM_015346.4(ZFYVE26):c.6692T>A (p.Leu2231Ter)

SNV
Unknown

Chr14:67756042

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309511

NM_015346.4(ZFYVE26):c.6713T>A (p.Leu2238Ter)

SNV
Unknown

Chr14:67756021

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002309522

NM_015346.4(ZFYVE26):c.4122G>A (p.Trp1374Ter)

SNV
Unknown

Chr14:67783030

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002306942

NM_015346.4(ZFYVE26):c.1816G>T (p.Glu606Ter)

SNV
Unknown

Chr14:67798446

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002306949

NM_015346.4(ZFYVE26):c.2619C>A (p.Tyr873Ter)

SNV
Unknown

Chr14:67790708

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002310088

NM_015346.4(ZFYVE26):c.253A>T (p.Lys85Ter)

SNV
Unknown

Chr14:67814006

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002310275

NM_015346.4(ZFYVE26):c.5179A>T (p.Lys1727Ter)

SNV
Unknown

Chr14:67775902

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002310277

NM_015346.4(ZFYVE26):c.3394C>T (p.Gln1132Ter)

SNV
Unknown

Chr14:67785188

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002310325

NM_015346.4(ZFYVE26):c.237G>A (p.Trp79Ter)

SNV
Unknown

Chr14:67814022

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002310339

NM_015346.4(ZFYVE26):c.4962T>A (p.Tyr1654Ter)

SNV
Unknown

Chr14:67777571

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV002308444

NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)

SNV
Germline

Chr15:44651796

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002349008 RCV003120907

NM_001244008.2(KIF1A):c.3457G>A (p.Val1153Ile)

SNV
Germline

Chr2:240745435

Conflicting classifications of pathogenicity

Inborn genetic diseases
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002320854 RCV003099240 RCV004782920

NM_025137.4(SPG11):c.3292-1G>C

SNV
Germline

Chr15:44608606

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002445828 RCV003600431

NM_001244008.2(KIF1A):c.4130A>G (p.Asn1377Ser)

SNV
Germline

Chr2:240725397

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002333063 RCV003102525 RCV004763375

NM_001244008.2(KIF1A):c.5129G>C (p.Ser1710Thr)

SNV
Germline

Chr2:240719091

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002330765 RCV003775972

NM_001244008.2(KIF1A):c.4744-6C>T

SNV
Germline

Chr2:240721044

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002330605 RCV003775955

NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)

SNV
Germline

Chr2:240720999

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003102630 RCV002330695

NM_001244008.2(KIF1A):c.1234C>T (p.Pro412Ser)

SNV
Germline

Chr2:240771078

Conflicting classifications of pathogenicity

Inborn genetic diseases
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002364642 RCV003098434 RCV004793794

NM_025137.4(SPG11):c.7152-2A>G

SNV
Germline

Chr15:44563303

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002367548 RCV003098482

NM_025137.4(SPG11):c.1892-6C>T

SNV
Germline

Chr15:44628850

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002408044 RCV003097330

NM_001244008.2(KIF1A):c.1826C>T (p.Ala609Val)

SNV
Germline

Chr2:240763289

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002410443 RCV003097278

NM_025137.4(SPG11):c.2626A>G (p.Lys876Glu)

SNV
Germline

Chr15:44620398

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002426434 RCV003495305

NM_001244008.2(KIF1A):c.2089G>A (p.Glu697Lys)

SNV
Germline

Chr2:240762746

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002423999 RCV003101048

NM_025137.4(SPG11):c.1008-5T>G

SNV
Germline

Chr15:44651944

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002428489 RCV003495304

NM_001244008.2(KIF1A):c.2949C>A (p.Phe983Leu)

SNV
Germline

Chr2:240750457

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002440250 RCV003775422 RCV004534103

NM_020944.3(GBA2):c.2506-2A>G

SNV
Unknown

Chr9:35737449

Likely pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

1 SubmittersRCV002465072

NM_001244008.2(KIF1A):c.806C>A (p.Ala269Asp)

SNV
Germline

Chr2:240783102

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV002466344

NM_024306.5(FA2H):c.786G>A (p.Lys262=)

SNV
Germline

Chr16:74718988

Pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

1 SubmittersRCV002468706

NM_001371279.1(REEP1):c.377T>A (p.Leu126Ter)

SNV
Germline

Chr2:86251997

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV002468772

NM_025137.4(SPG11):c.6755-1G>A

SNV
Germline

Chr15:44566306

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV002470132

NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)

SNV
Germline

Chr15:44573548

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV002471726

NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)

SNV
Germline

Chr15:44622220

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002471780

NM_014946.4(SPAST):c.1550T>G (p.Leu517Trp)

SNV
Germline

Chr2:32143349

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002470180

NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val)

SNV
Germline

Chr8:17286390

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 53
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002470312 RCV004067600

NM_014946.4(SPAST):c.1642G>C (p.Asp548His)

SNV
Germline

Chr2:32144962

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002470498

NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)

SNV
Germline

Chr14:50591575

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

2 SubmittersRCV002470667

NM_003119.4(SPG7):c.1248G>A (p.Lys416=)

SNV
Germline

Chr16:89532560

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002474274 RCV002574692

NM_014946.4(SPAST):c.1414-2A>G

SNV
Germline

Chr2:32137107

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002474430 RCV003235729

NM_014946.4(SPAST):c.1536+2T>C

SNV
Germline

Chr2:32141948

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002474431 RCV003523137

NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)

SNV
Germline

Chr2:32114825

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002474432 RCV003775539

NM_014946.4(SPAST):c.55C>G (p.Pro19Ala)

SNV
Germline

Chr2:32063886

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004798943

NM_001244008.2(KIF1A):c.2935G>A (p.Glu979Lys)

SNV
Germline

Chr2:240750471

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003052857 RCV004632160

NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)

SNV
Germline

Chr7:100105068

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

1 SubmittersRCV003062717

NM_025137.4(SPG11):c.5014G>T (p.Glu1672Ter)

SNV
Germline

Chr15:44585743

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003041225 RCV004719290

NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr1:113897902

Pathogenic

Hereditary spastic paraplegia 47
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003068427 RCV004725500

NM_001368809.2(AMPD2):c.-45C>T

SNV
Germline

Chr1:109621131

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003068942 RCV004071618

NM_000533.5(PLP1):c.670C>T (p.Leu224Phe)

SNV
Germline

ChrX:103788484

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003050641

NM_000533.5(PLP1):c.674T>C (p.Leu225Pro)

SNV
Germline

ChrX:103788488

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003066357 RCV004784090

NM_000533.5(PLP1):c.697-1G>A

SNV
Germline

ChrX:103789332

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003066358

NM_001244008.2(KIF1A):c.609-17G>A

SNV
Germline

Chr2:240785117

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003053034 RCV003994487

NM_001351169.2(NT5C2):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr10:103099964

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

1 SubmittersRCV003060864

NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter)

SNV
Germline

Chr7:4781200

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

1 SubmittersRCV003083686

NM_001166114.2(PNPLA6):c.2936+2T>C

SNV
Germline

Chr19:7555369

Likely pathogenic

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003073019 RCV003491234

NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu)

SNV
Germline

Chr2:32144954

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003079023

NM_015915.5(ATL1):c.70G>C (p.Glu24Gln)

SNV
Germline

Chr14:50587866

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003079043 RCV003079042

NM_001160148.2(DDHD1):c.1729C>T (p.Arg577Ter)

SNV
Germline

Chr14:53062980

Pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

1 SubmittersRCV003069963

NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter)

SNV
Germline

Chr1:228165959

Pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Single Submitter

1 SubmittersRCV002623548

NM_001166114.2(PNPLA6):c.2184+2T>G

SNV
Germline

Chr19:7551109

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV002599437

NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln)

SNV
Germline

Chr14:50628395

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV002599329

NM_001199753.2(CPT1C):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr19:49701593

Pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV002612089

NM_014844.5(TECPR2):c.220-2A>G

SNV
Germline

Chr14:102407336

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV002632270

NM_014946.4(SPAST):c.1245+1G>C

SNV
Germline

Chr2:32128480

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002664229

NM_014946.4(SPAST):c.1300C>T (p.Gln434Ter)

SNV
Germline

Chr2:32136617

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002634366

NM_014946.4(SPAST):c.1372A>C (p.Ser458Arg)

SNV
Germline

Chr2:32136927

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002634367

NM_014946.4(SPAST):c.1379G>T (p.Arg460Leu)

SNV
Germline

Chr2:32136934

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002651452

NM_014946.4(SPAST):c.1536+1G>A

SNV
Germline

Chr2:32141947

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002651453

NM_015214.3(DDHD2):c.815G>A (p.Trp272Ter)

SNV
Germline

Chr8:38242352

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

1 SubmittersRCV002630027

NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)

SNV
Germline

Chr15:44629299

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510280 RCV003600442

NM_004722.4(AP4M1):c.930-1G>C

SNV
Germline

Chr7:100105958

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003110761

NM_025137.4(SPG11):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr15:44663512

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003112105

NM_006070.6(TFG):c.968A>G (p.Asn323Ser)

SNV
Germline

Chr3:100748296

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002578131 RCV004965927

NM_014946.4(SPAST):c.73C>G (p.Pro25Ala)

SNV
Germline

Chr2:32063904

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002577228 RCV002577227

NM_014844.5(TECPR2):c.3918G>A (p.Trp1306Ter)

SNV
Germline

Chr14:102497107

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV002614136

NM_014844.5(TECPR2):c.1418-2A>G

SNV
Germline

Chr14:102434233

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV002662675

NM_014855.3(AP5Z1):c.970-1G>A

SNV
Germline

Chr7:4785521

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

1 SubmittersRCV002654326

NM_001244008.2(KIF1A):c.5014C>T (p.Arg1672Ter)

SNV
Germline

Chr2:240719781

Pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV002627731

NM_001244008.2(KIF1A):c.1658G>A (p.Arg553Gln)

SNV
Germline

Chr2:240766941

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002642902 RCV002653448

NM_001244008.2(KIF1A):c.4207C>T (p.Arg1403Cys)

SNV
Germline

Chr2:240725320

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002675513 RCV003151901

NM_001244008.2(KIF1A):c.3465+1G>A

SNV
Germline

Chr2:240745426

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV002720108

NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)

SNV
Germline

Chr2:32116146

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002690733 RCV002690734

NM_001166114.2(PNPLA6):c.413+1G>A

SNV
Germline

Chr19:7536547

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV002720370

NM_001010867.4(IBA57):c.342G>C (p.Gly114=)

SNV
Germline

Chr1:228174692

Conflicting classifications of pathogenicity

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002717290 RCV004632058

NM_001166114.2(PNPLA6):c.3851T>A (p.Leu1284Ter)

SNV
Germline

Chr19:7561048

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV002755664

NM_006070.6(TFG):c.325C>T (p.Leu109=)

SNV
Germline

Chr3:100728768

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002786148 RCV003222444

NM_014846.4(WASHC5):c.186+1G>C

SNV
Germline

Chr8:125083712

Likely pathogenic

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

1 SubmittersRCV002800511

NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)

SNV
Germline

Chr2:240788148

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV002805730

NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)

SNV
Germline

Chr2:240797674

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002774998 RCV004763457

NM_014946.4(SPAST):c.1508G>A (p.Arg503Gln)

SNV
Unknown

Chr2:32141918

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002814347

NM_015915.5(ATL1):c.584A>C (p.Glu195Ala)

SNV
Germline

Chr14:50595586

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV002807138

NM_000533.5(PLP1):c.5-1G>A

SNV
Germline

ChrX:103785581

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV002820107

NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser)

SNV
Germline

Chr2:240774259

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002837480 RCV003886585

NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr1:109625758

Pathogenic

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63

Criteria Provided
Single Submitter

1 SubmittersRCV002820600

NM_014946.4(SPAST):c.415+1G>C

SNV
Germline

Chr2:32064247

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002839415 RCV004790252

NM_000533.5(PLP1):c.553C>T (p.Gln185Ter)

SNV
Germline

ChrX:103787897

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV002839494

NM_014946.4(SPAST):c.1096G>T (p.Glu366Ter)

SNV
Germline

Chr2:32116210

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002837782

NM_001371279.1(REEP1):c.418-2A>C

SNV
Germline

Chr2:86232804

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV002816551

NM_025137.4(SPG11):c.1580C>G (p.Ser527Ter)

SNV
Germline

Chr15:44648888

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV002861686

NM_001160148.2(DDHD1):c.1371G>A (p.Trp457Ter)

SNV
Germline

Chr14:53073766

Pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

1 SubmittersRCV002846179

NM_001351169.2(NT5C2):c.675T>G (p.Tyr225Ter)

SNV
Germline

Chr10:103098943

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

1 SubmittersRCV002838278

NM_014844.5(TECPR2):c.3106C>T (p.Gln1036Ter)

SNV
Germline

Chr14:102449659

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV002830080

NM_014946.4(SPAST):c.1646T>A (p.Leu549Gln)

SNV
Germline

Chr2:32144966

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002857449

NM_015214.3(DDHD2):c.1617+1G>T

SNV
Germline

Chr8:38252288

Likely pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

1 SubmittersRCV002880609

NM_025137.4(SPG11):c.1261C>T (p.Gln421Ter)

SNV
Germline

Chr15:44651686

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV002876892

NM_001166114.2(PNPLA6):c.2260+1G>C

SNV
Germline

Chr19:7551438

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV002857996

NM_014946.4(SPAST):c.237C>A (p.Cys79Ter)

SNV
Germline

Chr2:32064068

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002871697

NM_001199753.2(CPT1C):c.2019+1G>C

SNV
Germline

Chr19:49711962

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV002876785

NM_015915.5(ATL1):c.1214T>G (p.Val405Gly)

SNV
Germline

Chr14:50628125

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV002862650

NM_025137.4(SPG11):c.667+1G>A

SNV
Germline

Chr15:44659078

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV002852951

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

SNV
Germline

Chr2:86252071

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV002894864

NM_015346.4(ZFYVE26):c.6424C>T (p.Gln2142Ter)

SNV
Germline

Chr14:67761530

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002890410 RCV004017951

NM_001244008.2(KIF1A):c.4208G>T (p.Arg1403Leu)

SNV
Germline

Chr2:240725319

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002886088 RCV004529179

NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)

SNV
Germline

Chr2:240783773

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002877610 RCV003320393

NM_014946.4(SPAST):c.1112T>C (p.Leu371Pro)

SNV
Germline

Chr2:32126961

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002926582

NM_015915.5(ATL1):c.1101C>A (p.Tyr367Ter)

SNV
Germline

Chr14:50623230

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV002882206

NM_014946.4(SPAST):c.1849T>C (p.Ter617Gln)

SNV
Germline

Chr2:32154494

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV002913431

NM_014844.5(TECPR2):c.2224C>T (p.Gln742Ter)

SNV
Germline

Chr14:102435041

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV002908853

NM_000533.5(PLP1):c.435G>A (p.Trp145Ter)

SNV
Germline

ChrX:103786708

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV002913146

NM_014846.4(WASHC5):c.740G>A (p.Arg247His)

SNV
Germline

Chr8:125076472

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002941913 RCV003138402

NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)

SNV
Germline

Chr2:240719828

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002932952 RCV002932953 RCV003222449 RCV004529182

NM_000533.5(PLP1):c.578C>A (p.Thr193Asn)

SNV
Germline

ChrX:103787922

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002914944 RCV003134549 RCV004958855

NM_000533.5(PLP1):c.180T>G (p.Tyr60Ter)

SNV
Germline

ChrX:103785757

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV002922866

NM_001244008.2(KIF1A):c.4495C>T (p.Arg1499Trp)

SNV
Germline

Chr2:240722626

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002914892 RCV005001331

NM_015214.3(DDHD2):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr8:38233190

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

1 SubmittersRCV002966357

NM_001166114.2(PNPLA6):c.1968C>A (p.Cys656Ter)

SNV
Germline

Chr19:7550538

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV002953767

NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter)

SNV
Germline

Chr1:228174804

Pathogenic

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV002957904

NM_001199753.2(CPT1C):c.1669C>T (p.Arg557Ter)

SNV
Germline

Chr19:49710422

Pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV003005274

NM_014855.3(AP5Z1):c.416C>T (p.Ala139Val)

SNV
Germline

Chr7:4783365

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002962979 RCV002962978

NM_004722.4(AP4M1):c.750C>A (p.Val250=)

SNV
Germline

Chr7:100105262

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002979246 RCV003234215

NM_015346.4(ZFYVE26):c.4061G>A (p.Arg1354Gln)

SNV
Germline

Chr14:67783091

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002976104 RCV003138421 RCV004790295 RCV004963313

NM_001244008.2(KIF1A):c.751G>A (p.Gly251Arg)

SNV
Germline

Chr2:240783786

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003030819

NM_001166114.2(PNPLA6):c.811C>T (p.Gln271Ter)

SNV
Germline

Chr19:7540938

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003021714

NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)

SNV
Germline

Chr15:44596178

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003025690

NM_014946.4(SPAST):c.1632C>A (p.Tyr544Ter)

SNV
Germline

Chr2:32144952

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003019259

NM_014844.5(TECPR2):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr14:102432071

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003013677

NM_014844.5(TECPR2):c.3565C>T (p.Gln1189Ter)

SNV
Germline

Chr14:102452552

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003038747

NM_001371279.1(REEP1):c.32+2T>C

SNV
Germline

Chr2:86337477

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV003026323

NM_001244008.2(KIF1A):c.5249G>A (p.Arg1750His)

SNV
Germline

Chr2:240718134

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003038402 RCV004068643

NM_014844.5(TECPR2):c.3075+2T>C

SNV
Germline

Chr14:102445949

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003037543

NM_025137.4(SPG11):c.3036C>G (p.Tyr1012Ter)

SNV
Germline

Chr15:44615365

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003034495

NM_000533.5(PLP1):c.378C>T (p.Ser126=)

SNV
Germline

ChrX:103786651

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003024891 RCV004595681

NM_014946.4(SPAST):c.1099-1G>C

SNV
Germline

Chr2:32126947

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003039381

NM_025137.4(SPG11):c.4198C>T (p.Gln1400Ter)

SNV
Germline

Chr15:44596319

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003043855

NM_001776.6(ENTPD1):c.1020C>G (p.Tyr340Ter)

SNV
Germline

Chr10:95847652

Pathogenic

Hereditary spastic paraplegia 64

Criteria Provided
Single Submitter

1 SubmittersRCV003040506

NM_001166114.2(PNPLA6):c.2185-6C>T

SNV
Germline

Chr19:7551356

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002722601 RCV003618043

NM_014855.3(AP5Z1):c.1707+1G>A

SNV
Germline

Chr7:4788952

Likely pathogenic

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003598146 RCV002845649

NM_014946.4(SPAST):c.722A>G (p.His241Arg)

SNV
Germline

Chr2:32114677

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002924878 RCV003523144

NM_004820.5(CYP7B1):c.1162C>G (p.Arg388Gly)

SNV
Germline

Chr8:64604753

Likely pathogenic

Hereditary spastic paraplegia 5A

Criteria Provided
Single Submitter

1 SubmittersRCV003120382

NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)

SNV
Germline

Chr4:107949416

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 56

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003128218

NM_004722.4(AP4M1):c.1138-1G>A

SNV
Germline

Chr7:100106657

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

1 SubmittersRCV003140480

NM_014946.4(SPAST):c.1196C>A (p.Ser399Ter)

SNV
Germline

Chr2:32128430

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003131572

NM_020944.3(GBA2):c.2608C>T (p.Arg870Ter)

SNV
Germline

Chr9:35737345

Likely pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

2 SubmittersRCV003145809

NM_005619.5(RTN2):c.198C>A (p.Tyr66Ter)

SNV
Germline

Chr19:45494887

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 12
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003148502 RCV004763604

NM_003119.4(SPG7):c.1923C>T (p.Asn641=)

SNV
Germline

Chr16:89553122

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003151701

NM_001776.6(ENTPD1):c.1109T>A (p.Leu370Ter)

SNV
Germline

Chr10:95860503

Pathogenic

Hereditary spastic paraplegia 64

No Assertion Criteria Provided

1 SubmittersRCV003152399

NM_001244008.2(KIF1A):c.630G>A (p.Met210Ile)

SNV
Unknown

Chr2:240785079

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV003152912

NM_001244008.2(KIF1A):c.302C>T (p.Ala101Val)

SNV
Unknown

Chr2:240788112

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV003153103

NM_015915.5(ATL1):c.1041G>T (p.Met347Ile)

SNV
Unknown

Chr14:50621893

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV003153130

NM_183075.3(CYP2U1):c.533G>C (p.Arg178Thr)

SNV
Germline

Chr4:107945012

Likely pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

1 SubmittersRCV003388181

NM_024306.5(FA2H):c.785A>C (p.Lys262Thr)

SNV
Germline

Chr16:74718989

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

1 SubmittersRCV003388183

NM_004984.4(KIF5A):c.737G>T (p.Gly246Val)

SNV
Germline

Chr12:57568985

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

1 SubmittersRCV003388189

NM_001166114.2(PNPLA6):c.715-2A>C

SNV
Germline

Chr19:7540628

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003388198

NM_001166114.2(PNPLA6):c.3412A>T (p.Ser1138Cys)

SNV
Germline

Chr19:7558864

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003388199

NM_001371279.1(REEP1):c.176T>A (p.Leu59His)

SNV
Germline

Chr2:86263971

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV003388204

NM_025137.4(SPG11):c.5193G>A (p.Trp1731Ter)

SNV
Germline

Chr15:44584487

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003388206

NM_025137.4(SPG11):c.2704G>T (p.Glu902Ter)

SNV
Germline

Chr15:44620320

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003388207

NM_003119.4(SPG7):c.2195T>C (p.Leu732Pro)

SNV
Germline

Chr16:89556900

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV003388209

NM_003119.4(SPG7):c.286+853A>G

SNV
Germline

Chr16:89511445

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV003388210

NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)

SNV
Germline

Chr16:89553858

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003388212

NM_006459.4(ERLIN1):c.196-1G>A

SNV
Germline

Chr10:100179248

Pathogenic

Hereditary spastic paraplegia 62

Criteria Provided
Single Submitter

1 SubmittersRCV003226046

NM_025137.4(SPG11):c.7023C>G (p.Tyr2341Ter)

SNV
Germline

Chr15:44564675

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV003226857

NM_015915.5(ATL1):c.656G>A (p.Trp219Ter)

SNV
Germline

Chr14:50613284

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV003229541

NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)

SNV
Germline

Chr15:44564698

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003230818 RCV003495329

NM_015915.5(ATL1):c.757G>T (p.Val253Phe)

SNV
Germline

Chr14:50614406

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003231729 RCV003502715

NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro)

SNV
Germline

Chr14:50628119

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV003320400

NM_001244008.2(KIF1A):c.1021A>C (p.Thr341Pro)

SNV
Germline

Chr2:240774199

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV003320401

NM_014855.3(AP5Z1):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr7:4783454

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

1 SubmittersRCV003233449

NM_004984.4(KIF5A):c.566C>G (p.Ser189Ter)

SNV
Unknown

Chr12:57567190

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

1 SubmittersRCV003234860

NM_015915.5(ATL1):c.1193C>T (p.Ser398Phe)

SNV
Germline

Chr14:50628104

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV003312911 RCV004719318

NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr)

SNV
Germline

Chr14:50628230

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

2 SubmittersRCV003312915

NM_014946.4(SPAST):c.1536+3A>G

SNV
Germline

Chr2:32141949

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003482912

NM_003119.4(SPG7):c.1303C>T (p.Gln435Ter)

SNV
Unknown

Chr16:89532615

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV003314272

NM_020944.3(GBA2):c.1602C>A (p.Tyr534Ter)

SNV
Unknown

Chr9:35739400

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

1 SubmittersRCV003314394

NM_001083962.2(TCF4):c.1146+2T>C

SNV
Germline

Chr18:55257313

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003314498

NM_021870.3(FGG):c.1201C>T (p.Arg401Trp)

SNV
Germline

Chr4:154604995

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003314519

NM_000090.4(COL3A1):c.898-1G>A

SNV
Germline

Chr2:188991668

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003314535

NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)

SNV
Germline

Chr2:240773245

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003319061 RCV003777306

NM_000533.5(PLP1):c.789C>G (p.Tyr263Ter)

SNV
Germline

ChrX:103790553

Likely pathogenic

Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003319958

NM_001244008.2(KIF1A):c.1000G>A (p.Ala334Thr)

SNV
Unknown

Chr2:240774220

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV003322680

NM_003119.4(SPG7):c.376+2T>A

SNV
Germline

Chr16:89513039

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV003331873

NM_025137.4(SPG11):c.6999+1G>T

SNV
Germline

Chr15:44565853

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV003331948

NM_025137.4(SPG11):c.3454-28A>G

SNV
Germline

Chr15:44606119

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003335798

NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)

SNV
Germline

Chr16:74716476

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

1 SubmittersRCV003335824

NM_025137.4(SPG11):c.3057T>A (p.Cys1019Ter)

SNV
Germline

Chr15:44613518

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003340836

NM_025137.4(SPG11):c.3453+1G>T

SNV
Germline

Chr15:44608443

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003337719

NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)

SNV
Germline

Chr9:35737336

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 46
Neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003338121 RCV003389089

NM_015915.5(ATL1):c.522+1G>T

SNV
Germline

Chr14:50591640

Likely pathogenic

Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

1 SubmittersRCV003384313

NM_025137.4(SPG11):c.696T>A (p.Tyr232Ter)

SNV
Germline

Chr15:44657268

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003388652

NM_003119.4(SPG7):c.2T>G (p.Met1Arg)

SNV
Germline

Chr16:89508419

Pathogenic

Hereditary spastic paraplegia 7

No Assertion Criteria Provided

1 SubmittersRCV003388959

NM_025137.4(SPG11):c.2621-1G>A

SNV
Unknown

Chr15:44620404

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003389135

NM_001371279.1(REEP1):c.44G>T (p.Gly15Val)

SNV
Unknown

Chr2:86282231

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV003389301

NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)

SNV
Germline

Chr2:32063958

Conflicting classifications of pathogenicity

SPAST-related disorder
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003402677 RCV003523171

NM_003119.4(SPG7):c.1151-1G>C

SNV
Germline

Chr16:89532462

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV003447699

NM_024306.5(FA2H):c.363+2T>C

SNV
Germline

Chr16:74740021

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003448934

NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)

SNV
Germline

Chr2:32137188

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003482507 RCV003633730

NM_025137.4(SPG11):c.1999G>T (p.Glu667Ter)

SNV
Germline

Chr15:44628737

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003495542

NM_015915.5(ATL1):c.35-1G>A

SNV
Germline

Chr14:50587830

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV003502917

NM_001371279.1(REEP1):c.72C>A (p.Tyr24Ter)

SNV
Germline

Chr2:86282203

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV003498280

NM_014946.4(SPAST):c.870+2T>C

SNV
Germline

Chr2:32114827

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003523238

NM_025137.4(SPG11):c.3340C>T (p.Gln1114Ter)

SNV
Germline

Chr15:44608557

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003495532

NM_001166114.2(PNPLA6):c.315+1G>T

SNV
Germline

Chr19:7536274

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003508285

NM_014844.5(TECPR2):c.51C>G (p.Tyr17Ter)

SNV
Germline

Chr14:102376772

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003537835

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

SNV
Germline

Chr15:44620189

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003496411

NM_025137.4(SPG11):c.6478-2A>G

SNV
Germline

Chr15:44569507

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003496459

NM_014855.3(AP5Z1):c.1806-1G>C

SNV
Germline

Chr7:4790458

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

1 SubmittersRCV003496538

NM_025137.4(SPG11):c.5263C>T (p.Gln1755Ter)

SNV
Germline

Chr15:44584417

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003497031

NM_025137.4(SPG11):c.6284T>A (p.Leu2095Ter)

SNV
Germline

Chr15:44572742

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003497036

NM_025137.4(SPG11):c.2914C>T (p.Gln972Ter)

SNV
Germline

Chr15:44615487

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003497183

NM_001199753.2(CPT1C):c.558C>A (p.Tyr186Ter)

SNV
Germline

Chr19:49701499

Pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV003590909

NM_014855.3(AP5Z1):c.1805+8C>G

SNV
Germline

Chr7:4789937

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003497149 RCV004999961

NM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys)

SNV
Germline

Chr14:50628287

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV003504579

NM_025137.4(SPG11):c.5087C>G (p.Ala1696Gly)

SNV
Germline

Chr15:44585670

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003494688

NM_025137.4(SPG11):c.2278T>C (p.Cys760Arg)

SNV
Germline

Chr15:44622766

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003494690

NM_025137.4(SPG11):c.1021C>T (p.Gln341Ter)

SNV
Germline

Chr15:44651926

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003494691

NM_025137.4(SPG11):c.442+1G>A

SNV
Germline

Chr15:44660431

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003494692

NM_025137.4(SPG11):c.3289C>T (p.Gln1097Ter)

SNV
Germline

Chr15:44610842

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003495079

NM_014946.4(SPAST):c.782C>G (p.Ser261Ter)

SNV
Germline

Chr2:32114737

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003525266

NM_014946.4(SPAST):c.1391A>C (p.Glu464Ala)

SNV
Germline

Chr2:32136946

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003525269

NM_014946.4(SPAST):c.1537-2A>T

SNV
Germline

Chr2:32143334

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003525270

NM_014946.4(SPAST):c.1617-1G>T

SNV
Germline

Chr2:32144936

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003525271

NM_014946.4(SPAST):c.1664A>G (p.Asp555Gly)

SNV
Germline

Chr2:32144984

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003525273

NM_014946.4(SPAST):c.1844C>T (p.Thr615Ile)

SNV
Germline

Chr2:32154489

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003525276

NM_000533.5(PLP1):c.608A>G (p.Asp203Gly)

SNV
Germline

ChrX:103787952

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003513697

NM_001166114.2(PNPLA6):c.3104C>A (p.Ser1035Ter)

SNV
Germline

Chr19:7556463

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003506806

NM_003119.4(SPG7):c.2104-1G>C

SNV
Germline

Chr16:89554485

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV003506846

NM_001166114.2(PNPLA6):c.3913+1G>A

SNV
Germline

Chr19:7561111

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003506927

NM_001166114.2(PNPLA6):c.1946+2T>G

SNV
Germline

Chr19:7550431

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003508875

NM_014844.5(TECPR2):c.2532G>A (p.Trp844Ter)

SNV
Germline

Chr14:102438159

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003536980

NM_025137.4(SPG11):c.1456+1G>T

SNV
Germline

Chr15:44651490

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003495591

NM_001166114.2(PNPLA6):c.2184+1G>A

SNV
Germline

Chr19:7551108

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003507030

NM_014844.5(TECPR2):c.951+1G>C

SNV
Germline

Chr14:102425292

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003536909

NM_025137.4(SPG11):c.5258C>A (p.Ser1753Ter)

SNV
Germline

Chr15:44584422

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003495874

NM_014946.4(SPAST):c.1537-2A>C

SNV
Germline

Chr2:32143334

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003524667 RCV004999974

NM_025137.4(SPG11):c.4906+2T>C

SNV
Germline

Chr15:44589250

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003496611

NM_025137.4(SPG11):c.1603-1G>C

SNV
Germline

Chr15:44633638

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003496592

NM_025137.4(SPG11):c.2068-1G>A

SNV
Germline

Chr15:44626508

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003496039

NM_014946.4(SPAST):c.1166C>T (p.Thr389Ile)

SNV
Germline

Chr2:32127015

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003522729

NM_001166114.2(PNPLA6):c.1168+1G>C

SNV
Germline

Chr19:7541685

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003507948

NM_014844.5(TECPR2):c.3075+1G>A

SNV
Germline

Chr14:102445948

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003649471

NM_001776.6(ENTPD1):c.861T>A (p.Tyr287Ter)

SNV
Germline

Chr10:95847493

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 64

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004798054 RCV003746749

NM_025137.4(SPG11):c.4834C>T (p.Gln1612Ter)

SNV
Germline

Chr15:44589324

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600536

NM_025137.4(SPG11):c.257+1G>A

SNV
Germline

Chr15:44663390

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600538

NM_025137.4(SPG11):c.3521-2A>G

SNV
Germline

Chr15:44600634

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600715

NM_025137.4(SPG11):c.5121+2T>G

SNV
Germline

Chr15:44585634

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600682

NM_025137.4(SPG11):c.5443C>T (p.Gln1815Ter)

SNV
Germline

Chr15:44584237

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003601503

NM_014946.4(SPAST):c.1363C>T (p.His455Tyr)

SNV
Germline

Chr2:32136918

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003634638

NM_014844.5(TECPR2):c.3460C>T (p.Gln1154Ter)

SNV
Germline

Chr14:102452447

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003649835

NM_000533.5(PLP1):c.406G>T (p.Glu136Ter)

SNV
Germline

ChrX:103786679

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003622655

NM_025137.4(SPG11):c.3067G>T (p.Glu1023Ter)

SNV
Germline

Chr15:44613508

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003602050

NM_025137.4(SPG11):c.1909C>T (p.Gln637Ter)

SNV
Germline

Chr15:44628827

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003601623

NM_025137.4(SPG11):c.1478T>A (p.Leu493Ter)

SNV
Germline

Chr15:44648990

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003601735

NM_025137.4(SPG11):c.2568G>A (p.Trp856Ter)

SNV
Germline

Chr15:44621811

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003601841

NM_015915.5(ATL1):c.574C>G (p.Leu192Val)

SNV
Germline

Chr14:50595576

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003612723 RCV004823177

NM_001166114.2(PNPLA6):c.1720C>T (p.Gln574Ter)

SNV
Germline

Chr19:7550018

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003618597

NM_001166114.2(PNPLA6):c.714+1G>A

SNV
Germline

Chr19:7540309

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003618569

NM_025137.4(SPG11):c.154G>T (p.Glu52Ter)

SNV
Germline

Chr15:44663494

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003602147

NM_001199753.2(CPT1C):c.694-2A>G

SNV
Germline

Chr19:49704708

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV003752029

NM_025137.4(SPG11):c.1144C>T (p.Gln382Ter)

SNV
Germline

Chr15:44651803

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003602296

NM_000533.5(PLP1):c.361C>T (p.Gln121Ter)

SNV
Germline

ChrX:103786634

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003623166

NM_014844.5(TECPR2):c.2554C>T (p.Gln852Ter)

SNV
Germline

Chr14:102438181

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003653729

NM_025137.4(SPG11):c.2985T>G (p.Tyr995Ter)

SNV
Germline

Chr15:44615416

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003599937

NM_001166114.2(PNPLA6):c.1678G>T (p.Asp560Tyr)

SNV
Germline

Chr19:7549976

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003617579

NM_001166114.2(PNPLA6):c.1913G>A (p.Trp638Ter)

SNV
Germline

Chr19:7550396

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003617580

NM_025137.4(SPG11):c.3527G>A (p.Trp1176Ter)

SNV
Germline

Chr15:44600626

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003599992

NM_014946.4(SPAST):c.16G>T (p.Gly6Ter)

SNV
Germline

Chr2:32063847

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003633041

NM_014855.3(AP5Z1):c.1954G>T (p.Glu652Ter)

SNV
Germline

Chr7:4790688

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

1 SubmittersRCV003597546

NM_025137.4(SPG11):c.6507C>A (p.Tyr2169Ter)

SNV
Germline

Chr15:44569476

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600007

NM_025137.4(SPG11):c.4907-2A>C

SNV
Germline

Chr15:44585852

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600081

NM_015915.5(ATL1):c.336G>A (p.Trp112Ter)

SNV
Germline

Chr14:50590994

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV003613515

NM_025137.4(SPG11):c.2356G>T (p.Glu786Ter)

SNV
Germline

Chr15:44622308

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600255

NM_015346.4(ZFYVE26):c.5729G>A (p.Trp1910Ter)

SNV
Germline

Chr14:67767765

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003750399 RCV004818407

NM_025137.4(SPG11):c.5598C>A (p.Cys1866Ter)

SNV
Germline

Chr15:44584082

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600251

NM_014946.4(SPAST):c.1273G>C (p.Ala425Pro)

SNV
Germline

Chr2:32136590

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003633312

NM_014946.4(SPAST):c.1066G>T (p.Glu356Ter)

SNV
Germline

Chr2:32116180

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003633328

NM_025137.4(SPG11):c.1602+1G>A

SNV
Germline

Chr15:44648865

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600337

NM_025137.4(SPG11):c.2621-6A>G

SNV
Germline

Chr15:44620409

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003600948 RCV003885368

NM_025137.4(SPG11):c.3691C>T (p.Gln1231Ter)

SNV
Germline

Chr15:44598832

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003600940

NM_001166114.2(PNPLA6):c.2533C>T (p.Gln845Ter)

SNV
Germline

Chr19:7554622

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003618974

NM_025137.4(SPG11):c.3687-2A>G

SNV
Germline

Chr15:44598838

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003601137

NM_001166114.2(PNPLA6):c.1372C>T (p.Gln458Ter)

SNV
Germline

Chr19:7542770

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003618943

NM_025137.4(SPG11):c.5422C>T (p.Gln1808Ter)

SNV
Germline

Chr15:44584258

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003601168

NM_014846.4(WASHC5):c.3182-16A>G

SNV
Germline

Chr8:125032410

Conflicting classifications of pathogenicity

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003782513 RCV003988148

NM_014846.4(WASHC5):c.3085-8C>T

SNV
Germline

Chr8:125037341

Conflicting classifications of pathogenicity

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003780978 RCV004701827

NM_001244008.2(KIF1A):c.1208-2A>C

SNV
Germline

Chr2:240771106

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003786174

NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)

SNV
Germline

Chr8:125078816

Pathogenic

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

1 SubmittersRCV003786571

NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)

SNV
Germline

Chr2:240797650

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003792212

NM_001244008.2(KIF1A):c.5005C>T (p.Gln1669Ter)

SNV
Germline

Chr2:240719790

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003801574

NM_001010867.4(IBA57):c.341+2T>G

SNV
Germline

Chr1:228166159

Likely pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Single Submitter

1 SubmittersRCV003797702

NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)

SNV
Germline

Chr2:240783084

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003808958

NM_001244008.2(KIF1A):c.4324C>T (p.Gln1442Ter)

SNV
Germline

Chr2:240723553

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003802462

NM_001244008.2(KIF1A):c.1114C>G (p.Leu372Val)

SNV
Germline

Chr2:240773180

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003815349

NM_001244008.2(KIF1A):c.798+2T>G

SNV
Germline

Chr2:240783737

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003807591

NM_014844.5(TECPR2):c.2578+1G>A

SNV
Germline

Chr14:102438206

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003811528

NM_001166114.2(PNPLA6):c.3100A>G (p.Thr1034Ala)

SNV
Germline

Chr19:7556459

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003828064

NM_014844.5(TECPR2):c.3863G>A (p.Trp1288Ter)

SNV
Germline

Chr14:102497052

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV003828323

NM_025137.4(SPG11):c.6787C>T (p.Gln2263Ter)

SNV
Germline

Chr15:44566273

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003811007

NM_025137.4(SPG11):c.3932C>T (p.Thr1311Ile)

SNV
Germline

Chr15:44598334

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003827604 RCV004366836

NM_025137.4(SPG11):c.1013G>A (p.Trp338Ter)

SNV
Germline

Chr15:44651934

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003837855

NM_014855.3(AP5Z1):c.970-2A>G

SNV
Germline

Chr7:4785520

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

1 SubmittersRCV003838478

NM_025137.4(SPG11):c.4870C>T (p.Gln1624Ter)

SNV
Germline

Chr15:44589288

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003834289

NM_001166114.2(PNPLA6):c.3292C>T (p.Arg1098Trp)

SNV
Germline

Chr19:7557179

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV003835300

NM_015161.3(ARL6IP1):c.430T>C (p.Ser144Pro)

SNV
Germline

Chr16:18794662

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 61
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003839629 RCV004366891

NM_025137.4(SPG11):c.5806C>T (p.Gln1936Ter)

SNV
Germline

Chr15:44583874

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003848693

NM_001199753.2(CPT1C):c.598G>A (p.Asp200Asn)

SNV
Germline

Chr19:49701539

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003862124 RCV004598283

NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)

SNV
Germline

Chr7:100103460

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

1 SubmittersRCV003871514

NM_014946.4(SPAST):c.469G>T (p.Glu157Ter)

SNV
Germline

Chr2:32087545

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003874217

NM_025137.4(SPG11):c.2625C>G (p.Tyr875Ter)

SNV
Germline

Chr15:44620399

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV003878463

NM_015161.3(ARL6IP1):c.112C>T (p.Arg38Ter)

SNV
Germline

Chr16:18798759

Pathogenic

Hereditary spastic paraplegia 61

Criteria Provided
Single Submitter

2 SubmittersRCV003882750

NM_015161.3(ARL6IP1):c.92T>C (p.Leu31Pro)

SNV
Germline

Chr16:18798779

Pathogenic

Hereditary spastic paraplegia 61

No Assertion Criteria Provided

1 SubmittersRCV003882751

NM_001244008.2(KIF1A):c.631A>G (p.Asn211Asp)

SNV
Germline

Chr2:240785078

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV003883385

NM_001351169.2(NT5C2):c.1106T>C (p.Phe369Ser)

SNV
Germline

Chr10:103093192

Likely pathogenic

Hereditary spastic paraplegia 45

No Assertion Criteria Provided

1 SubmittersRCV003885396

NM_001351169.2(NT5C2):c.1159+2T>G

SNV
Germline

Chr10:103093137

Pathogenic

Hereditary spastic paraplegia 45

No Assertion Criteria Provided

1 SubmittersRCV003885397

NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter)

SNV
Germline

Chr19:49705989

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV003887842

NM_014846.4(WASHC5):c.711+1G>A

SNV
Germline

Chr8:125078737

Likely pathogenic

Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

1 SubmittersRCV003886323

NM_001478.5(B4GALNT1):c.1322C>A (p.Ala441Glu)

SNV
Germline

Chr12:57627680

Likely pathogenic

Hereditary spastic paraplegia 26

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003988715

NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)

SNV
Germline

Chr16:74719086

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003990185

NM_001351169.2(NT5C2):c.176-2A>G

SNV
Germline

Chr10:103106708

Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

1 SubmittersRCV003989271

NM_015346.4(ZFYVE26):c.6589-2A>G

SNV
Germline

Chr14:67756147

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV003990605

NM_014846.4(WASHC5):c.296T>A (p.Phe99Tyr)

SNV
Germline

Chr8:125083149

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003994646

NM_015346.4(ZFYVE26):c.3304+1G>A

SNV
Germline

Chr14:67785857

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV003994710

NM_020944.3(GBA2):c.1720C>T (p.Arg574Ter)

SNV
Germline

Chr9:35739077

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

1 SubmittersRCV003994807

NM_020944.3(GBA2):c.1351C>T (p.Arg451Ter)

SNV
Germline

Chr9:35740056

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

1 SubmittersRCV004765389

NM_014946.4(SPAST):c.1076T>C (p.Ile359Thr)

SNV
Germline

Chr2:32116190

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV004767560

NM_004984.4(KIF5A):c.806T>C (p.Leu269Pro)

SNV
Germline

Chr12:57569054

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

1 SubmittersRCV004549035

NM_003119.4(SPG7):c.535G>T (p.Glu179Ter)

SNV
Germline

Chr16:89524164

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004765029

NM_003119.4(SPG7):c.1779+1G>T

SNV
Germline

Chr16:89550610

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004765068

NM_003119.4(SPG7):c.1A>C (p.Met1Leu)

SNV
Germline

Chr16:89508418

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004765069

NM_003119.4(SPG7):c.1310T>C (p.Leu437Pro)

SNV
Germline

Chr16:89532622

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004765070

NM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter)

SNV
Germline

Chr16:89548091

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004765072

NM_001776.6(ENTPD1):c.1174C>T (p.Gln392Ter)

SNV
Germline

Chr10:95860568

Pathogenic

Hereditary spastic paraplegia 64

No Assertion Criteria Provided

1 SubmittersRCV004560360

NM_001371279.1(REEP1):c.248G>T (p.Gly83Val)

SNV
Unknown

Chr2:86254749

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005000522 RCV004560465

NM_003119.4(SPG7):c.851T>C (p.Phe284Ser)

SNV
Germline

Chr16:89529569

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004818485

NM_003119.4(SPG7):c.3G>A (p.Met1Ile)

SNV
Germline

Chr16:89508420

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004585107 RCV004818487

NM_003119.4(SPG7):c.1756G>T (p.Glu586Ter)

SNV
Germline

Chr16:89550586

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004818491

NM_003119.4(SPG7):c.1A>T (p.Met1Leu)

SNV
Germline

Chr16:89508418

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004818494

NM_003119.4(SPG7):c.958G>T (p.Glu320Ter)

SNV
Germline

Chr16:89530779

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004818495

NM_005619.5(RTN2):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr19:45494982

Pathogenic

Hereditary spastic paraplegia 12

No Assertion Criteria Provided

1 SubmittersRCV004584291

NM_025137.4(SPG11):c.4012G>T (p.Glu1338Ter)

SNV
Germline

Chr15:44596933

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV004585151

NM_183075.3(CYP2U1):c.913C>T (p.His305Tyr)

SNV
Germline

Chr4:107945392

Pathogenic

Hereditary spastic paraplegia 56

No Assertion Criteria Provided

1 SubmittersRCV004595830

NM_000090.4(COL3A1):c.3572G>T (p.Gly1191Val)

SNV
Germline

Chr2:189008970

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004596061

NM_002361.4(MAG):c.809T>C (p.Leu270Pro)

SNV
Germline

Chr19:35300243

Likely pathogenic

Hereditary spastic paraplegia 75

No Assertion Criteria Provided

1 SubmittersRCV004767587

NM_003119.4(SPG7):c.1417C>T (p.Arg473Trp)

SNV
Germline

Chr16:89544740

Likely pathogenic

Hereditary spastic paraplegia 7

No Assertion Criteria Provided

1 SubmittersRCV004767593

NM_014855.3(AP5Z1):c.1349T>C (p.Phe450Ser)

SNV
Germline

Chr7:4787671

Likely pathogenic

Hereditary spastic paraplegia 48

No Assertion Criteria Provided

1 SubmittersRCV004767611

NM_014855.3(AP5Z1):c.630C>G (p.Pro210=)

SNV
Germline

Chr7:4784211

Likely pathogenic

Hereditary spastic paraplegia 48

No Assertion Criteria Provided

1 SubmittersRCV004767612

NM_020944.3(GBA2):c.1255T>G (p.Phe419Val)

SNV
Germline

Chr9:35740237

Likely pathogenic

Hereditary spastic paraplegia 46

No Assertion Criteria Provided

1 SubmittersRCV004767628

NM_025137.4(SPG11):c.3080T>G (p.Leu1027Ter)

SNV
Germline

Chr15:44613495

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV004701123

NM_001199753.2(CPT1C):c.1081C>T (p.Gln361Ter)

SNV
Unknown

Chr19:49706025

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV004723648

NM_003119.4(SPG7):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:89508419

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004764679

NM_000533.5(PLP1):c.622+1G>A

SNV
Germline

ChrX:103787967

Pathogenic

Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV004782214

NM_014946.4(SPAST):c.1636G>A (p.Gly546Arg)

SNV
Germline

Chr2:32144956

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004786180 RCV004796890

NM_014946.4(SPAST):c.1294G>T (p.Glu432Ter)

SNV
Germline

Chr2:32136611

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004792020

NM_014946.4(SPAST):c.427G>T (p.Glu143Ter)

SNV
Germline

Chr2:32087503

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004797003

NM_014946.4(SPAST):c.1616+1G>T

SNV
Germline

Chr2:32143416

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004797273

NM_001368809.2(AMPD2):c.1471G>A (p.Gly491Arg)

SNV
Germline

Chr1:109628706

Likely pathogenic

Hereditary spastic paraplegia 63

Criteria Provided
Single Submitter

1 SubmittersRCV004799058

NM_001371279.1(REEP1):c.123C>G (p.Tyr41Ter)

SNV
Unknown

Chr2:86264024

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV005002102