Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter)	SNV Germline	Chr7:66633425	Pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter	CA114572	rs_267607199	2 SubmittersRCV000000886
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	SNV Germline	Chr6:145627691	Pathogenic	Lafora disease Condition: not provided Progressive myoclonic epilepsy Myoclonic epilepsy of Lafora 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA314500	rs_104893950	13 SubmittersRCV000003244 RCV000187394 RCV000703218 RCV004576870 RCV002371755
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)	SNV Germline	Chr6:145627577	Pathogenic	Condition: not provided Progressive myoclonic epilepsy Myoclonic epilepsy of Lafora 1	Criteria Provided Single Submitter	CA252542	rs_137852917	3 SubmittersRCV000675700 RCV003746498 RCV004576871
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)	SNV Germline	Chr6:145686276	Pathogenic	Progressive myoclonic epilepsy Myoclonic epilepsy of Lafora 1	Criteria Provided Single Submitter	CA252543	rs_137852915	2 SubmittersRCV001851604 RCV004576872
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)	SNV Germline	Chr6:145635451	Likely pathogenic	Lafora disease Progressive myoclonic epilepsy Condition: not provided Myoclonic epilepsy of Lafora 1	Criteria Provided Single Submitter	CA252546	rs_137852916	4 SubmittersRCV000003248 RCV000469417 RCV004566675 RCV004576874
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)	SNV Germline	Chr6:145735405	Pathogenic/Likely pathogenic	Condition: not provided Progressive myoclonic epilepsy Myoclonic epilepsy of Lafora 1	Criteria Provided Multiple Submitters No Conflicts	CA252549	rs_104893955	3 SubmittersRCV000494425 RCV002512695 RCV004576876
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)	SNV Germline	Chr4:76174276	Pathogenic	Action myoclonus-renal failure syndrome Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA118740	rs_121909118	6 SubmittersRCV000007803 RCV000488955 RCV001390386
NM_000100.4(CSTB):c.67-1G>C	SNV Germline	Chr21:43774760	Conflicting classifications of pathogenicity	Unverricht-Lundborg syndrome Condition: not provided Inborn genetic diseases Progressive myoclonic epilepsy Chorea Dyskinesia Encephalopathy Microcephaly Cerebral dysmyelination	Criteria Provided Conflicting Classifications	CA209054	rs_147484110	17 SubmittersRCV000008903 RCV000187278 RCV000622443 RCV000638304 RCV001003638 RCV001254919
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	SNV Germline	Chr21:43774297	Pathogenic	Unverricht-Lundborg syndrome 8 conditions Childhood epilepsy with centrotemporal spikes Progressive myoclonic epilepsy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA314304	rs_74315442	8 SubmittersRCV000008904 RCV000626611 RCV000656065 RCV001387303 RCV002472925
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)	SNV Germline	Chr17:46935122	Pathogenic	Progressive myoclonic epilepsy type 6 Condition: not provided Muscular dystrophy Progressive myoclonic epilepsy Muscular dystrophy, congenital, with or without seizures	Criteria Provided Multiple Submitters No Conflicts	CA129191	rs_387906881	10 SubmittersRCV000023359 RCV000478768 RCV000509417 RCV001068291 RCV002472356
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)	SNV Germline	Chr3:64157305	Conflicting classifications of pathogenicity	not specified Condition: not provided Myoclonic epilepsy, progressive, X-linked Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA354158	rs_139747674	5 SubmittersRCV000326248 RCV000946236 RCV000987284 RCV001087878 RCV001149703
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)	SNV Germline	Chr3:64099773	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 5 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA129419	rs_387906989	4 SubmittersRCV000023710 RCV000679893 RCV002247388 RCV004555849
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)	SNV Germline	Chr8:18075541	Pathogenic/Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided ASAH1-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA129940	rs_145873635	9 SubmittersRCV000029199 RCV000724837 RCV001270895
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)	SNV Germline	Chr7:66638912	Pathogenic/Likely pathogenic	Epilepsy, progressive myoclonic, 3, with intracellular inclusions Condition: not provided Progressive myoclonic epilepsy type 3 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA129977	rs_387907246	6 SubmittersRCV000030608 RCV000519234 RCV000548914 RCV001582502 RCV002513270
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)	SNV Germline	Chr7:66633410	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications	CA130028	rs_387907260	5 SubmittersRCV000030687
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile)	SNV Germline	Chr7:66639180	Pathogenic	Progressive myoclonic epilepsy type 3	No Assertion Criteria Provided	CA130029	rs_387907261	1 SubmittersRCV000030688
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr)	SNV Germline	Chr7:66638281	Pathogenic	Progressive myoclonic epilepsy type 3	No Assertion Criteria Provided	CA130030	rs_387907262	1 SubmittersRCV000030689
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met)	SNV Germline	Chr7:66638260	Pathogenic	Progressive myoclonic epilepsy type 3	No Assertion Criteria Provided	CA130032	rs_387907263	1 SubmittersRCV000030690
NM_153033.5(KCTD7):c.133C>T (p.Leu45=)	SNV Germline	Chr7:66629197	Conflicting classifications of pathogenicity	Condition: not provided not specified Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications	CA231210	rs_587780370	3 SubmittersRCV000117375 RCV000443023 RCV001082414
NM_005670.4(EPM2A):c.24G>A (p.Val8=)	SNV Germline	Chr6:145735475	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive myoclonic epilepsy Lafora disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232477	rs_587780938	8 SubmittersRCV000186627 RCV000675706 RCV001081094 RCV003224163 RCV002312560
NM_005670.4(EPM2A):c.129C>G (p.Ala43=)	SNV Germline	Chr6:145735370	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232479	rs_547147183	4 SubmittersRCV000186628 RCV000724454 RCV001085709 RCV002312561
NM_004287.5(GOSR2):c.29+8C>T	SNV Germline	Chr17:46923229	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 6	Criteria Provided Conflicting Classifications	CA291099	rs_573306680	5 SubmittersRCV000125252 RCV000725870 RCV001088528 RCV001124181
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)	SNV Germline	Chr7:66639049	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy type 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232545	rs_372150992	8 SubmittersRCV000186636 RCV001089440 RCV000724096 RCV002312900
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)	SNV Germline	Chr7:66638322	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy type 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA291855	rs_145238250	8 SubmittersRCV000126504 RCV000557342 RCV001701679 RCV002312901
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)	SNV Germline	Chr21:43774690	Pathogenic/Likely pathogenic	Condition: not provided Unverricht-Lundborg syndrome Inborn genetic diseases Progressive myoclonic epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA314286	rs_545986367	6 SubmittersRCV000187279 RCV000202565 RCV000622652 RCV000811370
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)	SNV Germline	Chr11:17772053	Pathogenic/Likely pathogenic	Progressive myoclonic epilepsy type 7 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA214540	rs_727502818	7 SubmittersRCV000149909 RCV002371993 RCV003482236
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)	SNV Germline	Chr6:145686222	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy Cataract Severe global developmental delay Microcephaly Condition: not provided Inborn genetic diseases EPM2A-related disorder	Criteria Provided Conflicting Classifications	CA295611	rs_150452237	7 SubmittersRCV000153197 RCV000232652 RCV000626888 RCV001704109 RCV002345488 RCV003927479
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=)	SNV Germline	Chr3:64198805	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA234722	rs_727504106	3 SubmittersRCV000153768 RCV000349185 RCV002056041
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)	SNV Germline	Chr8:18059639	Pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	No Assertion Criteria Provided	CA185927	rs_794729663	1 SubmittersRCV000157604
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	SNV Germline	Chr8:18064458	Pathogenic/Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided ASAH1-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA185930	rs_200455852	6 SubmittersRCV000157605 RCV000853058 RCV004551355
NM_021267.5(CERS1):c.549C>G (p.His183Gln)	SNV Germline	Chr19:18884128	Pathogenic	Progressive myoclonic epilepsy type 8	No Assertion Criteria Provided	CA185990	rs_200024180	1 SubmittersRCV000161146
NM_000100.4(CSTB):c.121G>A (p.Val41Met)	SNV Germline	Chr21:43774705	Conflicting classifications of pathogenicity	Condition: not provided not specified Unverricht-Lundborg syndrome Progressive myoclonic epilepsy Inborn genetic diseases CSTB-related disorder	Criteria Provided Conflicting Classifications	CA241275	rs_143153487	10 SubmittersRCV000175522 RCV000187274 RCV000624931 RCV001084812 RCV002362892 RCV003947486
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)	SNV Germline	Chr7:66633320	Conflicting classifications of pathogenicity	Inborn genetic diseases Progressive myoclonic epilepsy type 3 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA241849	rs_201296399	7 SubmittersRCV000624660 RCV000645671 RCV000712134 RCV001797663
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)	SNV Germline	Chr4:76180995	Conflicting classifications of pathogenicity	not specified Action myoclonus-renal failure syndrome Progressive myoclonic epilepsy Condition: not provided Focal segmental glomerulosclerosis Inborn genetic diseases SCARB2-related disorder	Criteria Provided Conflicting Classifications	CA243359	rs_143558324	9 SubmittersRCV000188796 RCV000768074 RCV001085379 RCV000724756 RCV002294065 RCV002354455 RCV003917648
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)	SNV Germline	Chr6:145635283	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy Intellectual disability Inborn genetic diseases EPM2A-related disorder	Criteria Provided Conflicting Classifications	CA243361	rs_147399860	9 SubmittersRCV000177234 RCV001083180 RCV001252481 RCV002314628 RCV003907592
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)	SNV Germline	Chr7:66639155	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications	CA245487	rs_200415747	4 SubmittersRCV000178394 RCV001852214
NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=)	SNV Germline	Chr3:64160006	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA245505	rs_751122249	2 SubmittersRCV000178417 RCV002054115
NM_004287.5(GOSR2):c.478-4C>G	SNV Germline	Chr17:46938595	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA246673	rs_777442803	2 SubmittersRCV000179432 RCV001414306
NM_198859.4(PRICKLE2):c.788-6T>C	SNV Germline	Chr3:64147708	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA203530	rs_180903875	4 SubmittersRCV000180020 RCV000544981 RCV001148150
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=)	SNV Germline	Chr3:64099624	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA247837	rs_367685080	2 SubmittersRCV000180389 RCV001519840
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)	SNV Germline	Chr3:64099395	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 5 PRICKLE2-related disorder	Criteria Provided Conflicting Classifications	CA247841	rs_148689951	3 SubmittersRCV000180391 RCV001078811 RCV003977483
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)	SNV Germline	Chr4:76179684	Conflicting classifications of pathogenicity	not specified Condition: not provided Action myoclonus-renal failure syndrome Progressive myoclonic epilepsy Inborn genetic diseases SCARB2-related disorder	Criteria Provided Conflicting Classifications	CA317052	rs_147159813	10 SubmittersRCV000188787 RCV000725214 RCV000768072 RCV001085976 RCV002311280 RCV003907663
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)	SNV Germline	Chr4:76181016	Pathogenic/Likely pathogenic	Condition: not provided Action myoclonus-renal failure syndrome Progressive myoclonic epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA317064	rs_200053119	4 SubmittersRCV000188795 RCV000258860 RCV000698181
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)	SNV Germline	Chr4:76213464	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy Childhood epilepsy with centrotemporal spikes Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317088	rs_368906199	5 SubmittersRCV000188809 RCV000457049 RCV000655992 RCV001508152 RCV002314751
NM_005670.4(EPM2A):c.974G>A (p.Arg325His)	SNV Germline	Chr6:145627438	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA314478	rs_777308612	2 SubmittersRCV000187383 RCV001218707
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)	SNV Germline	Chr6:145627690	Conflicting classifications of pathogenicity	not specified Seizure Condition: not provided Progressive myoclonic epilepsy Lafora disease Inborn genetic diseases EPM2A-related disorder	Criteria Provided Conflicting Classifications	CA314503	rs_146321088	10 SubmittersRCV000187396 RCV000720116 RCV000727316 RCV001084331 RCV001331453 RCV002317095 RCV003967473
NM_005670.4(EPM2A):c.620G>A (p.Arg207His)	SNV Germline	Chr6:145635343	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy EPM2A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314488	rs_571938170	5 SubmittersRCV000726476 RCV001088121 RCV003977496 RCV002362981
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr)	SNV Germline	Chr6:145735342	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314492	rs_763719276	3 SubmittersRCV000706648 RCV001721193 RCV002399696
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)	SNV Germline	Chr6:145735363	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy Lafora disease Seizure Inborn genetic diseases EPM2A-related disorder	Criteria Provided Conflicting Classifications	CA314520	rs_374338349	6 SubmittersRCV000187406 RCV000528451 RCV000765870 RCV001263351 RCV002381628 RCV003927738
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)	SNV Germline	Chr7:66633386	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA315687	rs_149255570	4 SubmittersRCV000533139 RCV002426906 RCV001705019
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)	SNV Germline	Chr7:66633403	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive myoclonic epilepsy type 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315679	rs_139585796	7 SubmittersRCV000188015 RCV000733149 RCV001081544 RCV002317118
NM_153033.5(KCTD7):c.335G>A (p.Arg112His)	SNV Germline	Chr7:66638273	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications	CA315693	rs_774026720	3 SubmittersRCV000188023 RCV000761541
NM_153033.5(KCTD7):c.456G>A (p.Val152=)	SNV Germline	Chr7:66638394	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications	CA315672	rs_796052686	3 SubmittersRCV000188011 RCV000545317
NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser)	SNV Germline	Chr7:66639066	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications	CA315696	rs_796052689	2 SubmittersRCV000188025 RCV001852471
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)	SNV Germline	Chr16:28488643	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Condition: not provided Progressive myoclonic epilepsy type 3 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313772	rs_137906617	14 SubmittersRCV000300798 RCV000725785 RCV000791120 RCV001086732 RCV001121029 RCV002317078
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)	SNV Germline	Chr17:46929530	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314894	rs_113817924	6 SubmittersRCV000187612 RCV000307040 RCV002317105
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)	SNV Germline	Chr17:46931152	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314898	rs_143754727	4 SubmittersRCV000364005 RCV000858536 RCV002390493
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro)	SNV Germline	Chr17:46932185	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314908	rs_138510884	5 SubmittersRCV000187619 RCV001478495 RCV002444759
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe)	SNV Germline	Chr17:46935080	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA314901	rs_137975476	2 SubmittersRCV000187615 RCV001408579
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)	SNV Germline	Chr21:43774306	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy Unverricht-Lundborg syndrome	Criteria Provided Conflicting Classifications	CA314279	rs_570768038	3 SubmittersRCV000187275 RCV000700615 RCV001142989
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr)	SNV Germline	Chr19:2438464	Pathogenic	Progressive myoclonic epilepsy type 9	No Assertion Criteria Provided	CA204964	rs_797045143	1 SubmittersRCV000190899
NM_004287.5(GOSR2):c.336+1G>A	SNV Germline	Chr17:46932200	Pathogenic/Likely pathogenic	Progressive myoclonic epilepsy type 6 Condition: not provided Progressive myoclonic epilepsy Inborn genetic diseases Muscular dystrophy, congenital, with or without seizures	Criteria Provided Multiple Submitters No Conflicts	CA208730	rs_141554661	7 SubmittersRCV000194518 RCV000439078 RCV000703812 RCV002317685 RCV002478670
NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile)	SNV Germline	Chr11:17772520	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy type 7 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA249087	rs_146311746	4 SubmittersRCV000202888 RCV000690137 RCV001289075 RCV002311317
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)	SNV Germline	Chr4:76163353	Pathogenic	Action myoclonus-renal failure syndrome Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10602674	rs_886041078	4 SubmittersRCV000258865 RCV001859529 RCV002374447
NM_005506.4(SCARB2):c.704+1G>A	SNV Germline	Chr4:76176436	Pathogenic	Action myoclonus-renal failure syndrome Progressive myoclonic epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA10602677	rs_886041076	3 SubmittersRCV000258872 RCV001385676
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)	SNV Germline	Chr3:64099483	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA2479492	rs_200220646	4 SubmittersRCV000358470 RCV001086846 RCV001149606
NM_005506.4(SCARB2):c.486C>T (p.Ala162=)	SNV Germline	Chr4:76179643	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive myoclonic epilepsy Inborn genetic diseases SCARB2-related disorder	Criteria Provided Conflicting Classifications	CA2970324	rs_143518519	5 SubmittersRCV000354044 RCV000725952 RCV001089343 RCV002338848 RCV003957474
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=)	SNV Germline	Chr3:64146900	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA10616564	rs_886058800	2 SubmittersRCV000366463 RCV001504592
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=)	SNV Germline	Chr3:64153333	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA2479773	rs_567814417	2 SubmittersRCV000278685 RCV002061234
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=)	SNV Germline	Chr3:64147173	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA2479653	rs_745530308	2 SubmittersRCV000322488 RCV001429591
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)	SNV Germline	Chr3:64147442	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy not specified Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA2479697	rs_771168722	3 SubmittersRCV000377171 RCV000517222 RCV002057895
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=)	SNV Germline	Chr3:64153279	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA2479768	rs_144338942	2 SubmittersRCV000373198 RCV000536867
NM_198859.4(PRICKLE2):c.-370G>A	SNV Germline	Chr3:64225239	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided	Criteria Provided Conflicting Classifications	CA10619388	rs_139238137	2 SubmittersRCV000359903 RCV003430886
NM_153033.5(KCTD7):c.369A>C (p.Arg123=)	SNV Germline	Chr7:66638307	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA4278244	rs_753658170	2 SubmittersRCV000378037 RCV000840701
NM_004287.5(GOSR2):c.*18G>T	SNV Germline	Chr17:46938778	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy not specified	Criteria Provided Conflicting Classifications	CA8621371	rs_778066395	2 SubmittersRCV000279102 RCV000423780
NM_004287.5(GOSR2):c.336+9G>A	SNV Germline	Chr17:46932208	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy not specified Progressive myoclonic epilepsy type 6 GOSR2-related disorder	Criteria Provided Conflicting Classifications	CA8621233	rs_200210055	4 SubmittersRCV000386264 RCV000438604 RCV001094534 RCV003940279
NM_004287.5(GOSR2):c.29+13C>T	SNV Germline	Chr17:46923234	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 6 not specified Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA8621104	rs_747791818	3 SubmittersRCV000273022 RCV000418567 RCV002521112
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)	SNV Germline	Chr17:46932109	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8621216	rs_141380070	4 SubmittersRCV000334065 RCV001553153 RCV002317840
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)	SNV Germline	Chr17:46935055	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA10650360	rs_886053078	2 SubmittersRCV000275507
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp)	SNV Germline	Chr6:145635476	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA4035148	rs_777767978	2 SubmittersRCV000413724 RCV001850991
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)	SNV Germline	Chr8:18064504	Pathogenic/Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided ASAH1-related disorders Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Farber lipogranulomatosis	Criteria Provided Multiple Submitters No Conflicts	CA4650862	rs_371666412	5 SubmittersRCV000416939 RCV001861470 RCV004551416 RCV002502451
NM_005506.4(SCARB2):c.424-4G>A	SNV Germline	Chr4:76179709	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2970330	rs_368869126	4 SubmittersRCV000727074 RCV001087300 RCV002328931
NM_005506.4(SCARB2):c.424-5C>T	SNV Germline	Chr4:76179710	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided Action myoclonus-renal failure syndrome Inborn genetic diseases SCARB2-related disorder	Criteria Provided Conflicting Classifications	CA2970331	rs_192876326	5 SubmittersRCV000638329 RCV001704283 RCV002506052 RCV003243124 RCV003959935
NM_005670.4(EPM2A):c.301+5T>C	SNV Germline	Chr6:145735193	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA4035218	rs_776655093	2 SubmittersRCV000438038 RCV001058008
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter)	SNV Germline	Chr6:145635468	Pathogenic/Likely pathogenic	Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA4035146	rs_781291421	2 SubmittersRCV000437398 RCV000638315
NM_005670.4(EPM2A):c.301+4T>C	SNV Germline	Chr6:145735194	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA4035219	rs_761970395	2 SubmittersRCV001704415 RCV001861590
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=)	SNV Germline	Chr4:76166295	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA2970157	rs_574498998	2 SubmittersRCV000436083 RCV000801038
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)	SNV Germline	Chr7:66638325	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive myoclonic epilepsy type 3 KCTD7-related disorder	Criteria Provided Conflicting Classifications	CA4278247	rs_140932942	5 SubmittersRCV000420919 RCV000727498 RCV001421064 RCV003970115
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)	SNV Germline	Chr7:66638993	Pathogenic	Condition: not provided Inborn genetic diseases Progressive myoclonic epilepsy type 3	Criteria Provided Multiple Submitters No Conflicts	CA4278309	rs_750811871	4 SubmittersRCV000426305 RCV001266298 RCV002272231
NM_153033.5(KCTD7):c.291C>T (p.Ile97=)	SNV Germline	Chr7:66633421	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications	CA4278217	rs_769023482	3 SubmittersRCV000432309 RCV001164720
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met)	SNV Germline	Chr11:17772388	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Progressive myoclonic epilepsy type 7 KCNC1-related disorder	Criteria Provided Conflicting Classifications	CA16606898	rs_1057524670	4 SubmittersRCV000444984 RCV001266991 RCV003133264 RCV003401436
NM_004287.5(GOSR2):c.203+3A>G	SNV Germline	Chr17:46931210	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8621187	rs_201423456	3 SubmittersRCV000430511 RCV000794248 RCV002313046
NM_000100.4(CSTB):c.45G>A (p.Glu15=)	SNV Germline	Chr21:43776225	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Unverricht-Lundborg syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16608085	rs_1057521317	3 SubmittersRCV000638335 RCV001142991 RCV001712232
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)	SNV Germline	Chr4:76174287	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided Action myoclonus-renal failure syndrome SCARB2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2970238	rs_149997095	6 SubmittersRCV000464893 RCV001508151 RCV002506113 RCV003925314 RCV002411444
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)	SNV Germline	Chr6:145735336	Pathogenic/Likely pathogenic	Condition: not provided Lafora disease Progressive myoclonic epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA16618251	rs_187930476	3 SubmittersRCV000485511 RCV001782962 RCV001851161
NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met)	SNV Germline	Chr11:17772367	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 7	Criteria Provided Conflicting Classifications	CA379808912	rs_1085307785	2 SubmittersRCV000489146 RCV001851315
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)	SNV Germline	Chr3:64147176	Conflicting classifications of pathogenicity	Condition: not provided Childhood epilepsy with centrotemporal spikes Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA2479655	rs_202170644	5 SubmittersRCV000591474 RCV000655990 RCV001081842 RCV001147251
NM_032737.4(LMNB2):c.265-19C>T	SNV Germline	Chr19:2444559	Conflicting classifications of pathogenicity	Condition: not provided Lipodystrophy, partial, acquired, susceptibility to Progressive myoclonic epilepsy type 9 Progressive myoclonic epilepsy type 9	Criteria Provided Conflicting Classifications	CA9067952	rs_199577453	3 SubmittersRCV000513924 RCV002060212 RCV001336788
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)	SNV Germline	Chr3:64157168	Conflicting classifications of pathogenicity	not specified Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications	CA2479793	rs_367680077	3 SubmittersRCV000516614 RCV001148151 RCV000544174
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)	SNV Germline	Chr4:76179699	Conflicting classifications of pathogenicity	Condition: not provided Action myoclonus-renal failure syndrome Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2970329	rs_117600063	5 SubmittersRCV000519874 RCV000768073 RCV001089120 RCV002329233
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)	SNV Germline	Chr3:64146888	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA2479599	rs_144757200	2 SubmittersRCV000541109 RCV001145306
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)	SNV Germline	Chr4:76179549	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided Action myoclonus-renal failure syndrome	Criteria Provided Conflicting Classifications	CA2970310	rs_773017713	3 SubmittersRCV000535628 RCV001591223 RCV003139761
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)	SNV Germline	Chr6:145627667	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided	Criteria Provided Conflicting Classifications	CA366190434	rs_1387516050	2 SubmittersRCV000556253 RCV001563435
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)	SNV Germline	Chr7:66633380	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3 not specified	Criteria Provided Conflicting Classifications	CA4278209	rs_754476100	3 SubmittersRCV000554978 RCV002282222
NM_001112741.2(KCNC1):c.494C>T (p.Pro165Leu)	SNV Germline	Chr11:17736496	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5906685	rs_749790557	2 SubmittersRCV000545692 RCV003159931
NM_001112741.2(KCNC1):c.1450C>G (p.Gln484Glu)	SNV Germline	Chr11:17772544	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA5906809	rs_376505218	2 SubmittersRCV000552153 RCV001574664
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg)	SNV Germline	Chr17:46923209	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8621101	rs_749270151	2 SubmittersRCV001400542 RCV002413494
NM_021267.5(CERS1):c.37C>T (p.Pro13Ser)	SNV Germline	Chr19:18896036	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 8 CERS1-related disorder not specified	Criteria Provided Conflicting Classifications	CA306258914	rs_868136098	4 SubmittersRCV000547172 RCV003935533 RCV004024315
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)	SNV Germline	Chr11:17772356	Pathogenic/Likely pathogenic	Progressive myoclonic epilepsy type 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379808875	rs_1554991378	6 SubmittersRCV000578307 RCV000656267
NM_004287.5(GOSR2):c.447T>C (p.Asp149=)	SNV Germline	Chr17:46935139	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications	CA8621296	rs_750298260	2 SubmittersRCV000598129 RCV001413887
NM_153033.5(KCTD7):c.621C>A (p.Leu207=)	SNV Germline	Chr7:66638983	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications	CA4278305	rs_376944331	4 SubmittersRCV000594442 RCV001078544
NM_153033.5(KCTD7):c.145-2A>G	SNV Germline	Chr7:66633273	Likely pathogenic	Inborn genetic diseases Progressive myoclonic epilepsy type 3	Criteria Provided Multiple Submitters No Conflicts	CA367695426	rs_1554397774	3 SubmittersRCV000623181 RCV001042252
NM_153033.5(KCTD7):c.314+1G>A	SNV Germline	Chr7:66633445	Likely pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter	CA367695788	rs_1554397834	1 SubmittersRCV000645674
NM_021267.5(CERS1):c.16C>A (p.Pro6Thr)	SNV Germline	Chr19:18896057	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 8 not specified	Criteria Provided Conflicting Classifications	CA306258932	rs_1041161328	2 SubmittersRCV000652507 RCV004025868
NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp)	SNV Germline	Chr19:2433996	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to not specified	Criteria Provided Conflicting Classifications	CA9067535	rs_780728738	2 SubmittersRCV000652861 RCV004025889
NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp)	SNV Germline	Chr19:2435156	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to Condition: not provided	Criteria Provided Conflicting Classifications	CA9067792	rs_148936043	2 SubmittersRCV000652851 RCV001532366
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)	SNV Germline	Chr19:2438273	Conflicting classifications of pathogenicity	Lipodystrophy, partial, acquired, susceptibility to Progressive myoclonic epilepsy type 9 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9067840	rs_112419003	4 SubmittersRCV000652860 RCV000712223 RCV004025888
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)	SNV Germline	Chr7:66638895	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications		rs_368001837	3 SubmittersRCV000677304
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)	SNV Germline	Chr7:66638396	Conflicting classifications of pathogenicity; Affects	Progressive myoclonic epilepsy type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_765235486	4 SubmittersRCV000680019 RCV002512122
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)	SNV Germline	Chr8:18062391	Conflicting classifications of pathogenicity	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Conflicting Classifications		rs_766257867	2 SubmittersRCV000679928
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)	SNV Germline	Chr8:18075542	Conflicting classifications of pathogenicity	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_779888892	3 SubmittersRCV000679927 RCV002531407
NM_001112741.2(KCNC1):c.1619G>A (p.Arg540His)	SNV Germline	Chr11:17779570	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_375362627	2 SubmittersRCV000704192 RCV002534422
NM_004287.5(GOSR2):c.337-2A>G	SNV Germline	Chr17:46935027	Likely pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_1568177307	1 SubmittersRCV000701758
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)	SNV Germline	Chr11:17771785	Likely pathogenic	Progressive myoclonic epilepsy type 7	Criteria Provided Single Submitter		rs_1565162623	1 SubmittersRCV000688406
NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp)	SNV Germline	Chr11:17771803	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 7	Criteria Provided Conflicting Classifications		rs_150993414	2 SubmittersRCV000700881
NM_032737.4(LMNB2):c.1298G>A (p.Arg433His)	SNV Germline	Chr19:2434010	Conflicting classifications of pathogenicity	Lipodystrophy, partial, acquired, susceptibility to Progressive myoclonic epilepsy type 9 not specified	Criteria Provided Conflicting Classifications		rs_770685785	2 SubmittersRCV000699341 RCV004026472
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)	SNV Germline	Chr21:43776206	Pathogenic/Likely pathogenic	Progressive myoclonic epilepsy Unverricht-Lundborg syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1569006250	3 SubmittersRCV000697295 RCV001784328
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu)	SNV Germline	Chr17:46932076	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199930484	3 SubmittersRCV001692275 RCV001523407 RCV002313680
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter)	SNV Germline	Chr19:18893551	Pathogenic	Progressive myoclonic epilepsy type 8	Criteria Provided Single Submitter		rs_561672108	1 SubmittersRCV000785041
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)	SNV Germline	Chr4:76166279	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided Inborn genetic diseases Action myoclonus-renal failure syndrome SCARB2-related disorder	Criteria Provided Conflicting Classifications		rs_147142116	5 SubmittersRCV000813787 RCV001552147 RCV002352427 RCV002487779 RCV003928283
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)	SNV Germline	Chr6:145627654	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_749937487	2 SubmittersRCV000793437 RCV002388420
NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr)	SNV Germline	Chr11:17736423	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376363769	3 SubmittersRCV000819485 RCV002332697
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter)	SNV Germline	Chr17:46931188	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_1380954046	1 SubmittersRCV000816740
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)	SNV Germline	Chr19:2431619	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_201873197	3 SubmittersRCV000802110 RCV003884736 RCV004028091
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)	SNV Germline	Chr19:2432453	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to	Criteria Provided Conflicting Classifications		rs_368745985	2 SubmittersRCV001289027 RCV000817904
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val)	SNV Germline	Chr19:2444524	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to Progressive myoclonic epilepsy type 9	Criteria Provided Conflicting Classifications		rs_778299381	2 SubmittersRCV000808100 RCV001336789
NM_177924.5(ASAH1):c.125+1G>A	SNV Germline	Chr8:18075540	Pathogenic	Condition: not provided Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1588999312	2 SubmittersRCV000820153 RCV001003311
NM_005506.4(SCARB2):c.1193C>T (p.Thr398Met)	SNV Germline	Chr4:76166296	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_759493134	2 SubmittersRCV001439807 RCV004029342
NM_004287.5(GOSR2):c.94+7A>C	SNV Germline	Chr17:46929591	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_376231923	3 SubmittersRCV000862008 RCV001124182 RCV001644844
NM_004287.5(GOSR2):c.64C>T (p.Leu22=)	SNV Germline	Chr17:46929554	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications		rs_770760366	2 SubmittersRCV000865149 RCV001416953
NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp)	SNV Germline	Chr19:2431573	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to Progressive myoclonic epilepsy type 9 LMNB2-related disorder	Criteria Provided Conflicting Classifications		rs_145978406	3 SubmittersRCV000952022 RCV001336787 RCV003943043
NM_153033.5(KCTD7):c.551G>A (p.Arg184His)	SNV Germline	Chr7:66638913	Likely pathogenic	Progressive myoclonic epilepsy type 3	No Assertion Criteria Provided		rs_747676224	1 SubmittersRCV000985179
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)	SNV Germline	Chr19:18879378	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 8	Criteria Provided Conflicting Classifications		rs_1375601977	3 SubmittersRCV000986205
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)	SNV Germline	Chr6:145635403	Conflicting classifications of pathogenicity	Myoclonic epilepsy, progressive, X-linked Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications		rs_1582935082	2 SubmittersRCV000987798 RCV002549688
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)	SNV Germline	Chr19:2434434	Conflicting classifications of pathogenicity	Lipodystrophy, partial, acquired, susceptibility to Progressive myoclonic epilepsy type 9 Condition: not provided	Criteria Provided Conflicting Classifications		rs_143717863	2 SubmittersRCV001227755 RCV000992276
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)	SNV Germline	Chr8:18059603	Pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_771847002	3 SubmittersRCV001003338 RCV001544563
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)	SNV Germline	Chr8:18062409	Pathogenic	Farber lipogranulomatosis Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Single Submitter		rs_1588978873	1 SubmittersRCV001003309
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)	SNV Germline	Chr8:18071339	Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Single Submitter		rs_766395283	1 SubmittersRCV001003298
NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)	SNV Germline	Chr8:18083982	Pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Single Submitter		rs_886039750	1 SubmittersRCV001003312
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)	SNV Germline	Chr11:17772388	Likely pathogenic	Progressive myoclonic epilepsy type 7	Criteria Provided Single Submitter			1 SubmittersRCV001004755
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)	SNV Germline	Chr6:145627577	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_137852917	1 SubmittersRCV001035776
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter)	SNV Germline	Chr6:145735425	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_1776817138	1 SubmittersRCV001068906
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)	SNV Germline	Chr7:66633381	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications		rs_200575329	2 SubmittersRCV001051791
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)	SNV Germline	Chr11:17772109	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 7 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1849236683	4 SubmittersRCV001061926 RCV003311936
NM_032737.4(LMNB2):c.757G>A (p.Asp253Asn)	SNV Germline	Chr19:2435099	Conflicting classifications of pathogenicity	Lipodystrophy, partial, acquired, susceptibility to Progressive myoclonic epilepsy type 9 not specified	Criteria Provided Conflicting Classifications		rs_776574641	2 SubmittersRCV001066198 RCV004030600
NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg)	SNV Germline	Chr8:18075548	Conflicting classifications of pathogenicity	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1800367831	2 SubmittersRCV001095795 RCV001856297
NM_000100.4(CSTB):c.9C>T (p.Cys3=)	SNV Germline	Chr21:43776261	Conflicting classifications of pathogenicity	Unverricht-Lundborg syndrome Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications		rs_555930471	2 SubmittersRCV001138240 RCV002070623
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=)	SNV Germline	Chr3:64159991	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 5	Criteria Provided Conflicting Classifications		rs_148888682	2 SubmittersRCV001149706 RCV001401992
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val)	SNV Germline	Chr11:17779489	Likely pathogenic	Progressive myoclonic epilepsy type 7	Criteria Provided Single Submitter		rs_1485166517	1 SubmittersRCV001208247
NM_004287.5(GOSR2):c.336C>T (p.Asn112=)	SNV Germline	Chr17:46932199	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_755211944	3 SubmittersRCV001203086 RCV002071860 RCV002451421
NM_005506.4(SCARB2):c.424-1G>A	SNV Germline	Chr4:76179706	Likely pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_1732338984	1 SubmittersRCV001223724
NM_000100.4(CSTB):c.67-4C>G	SNV Germline	Chr21:43774763	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided	Criteria Provided Conflicting Classifications		rs_2084002305	2 SubmittersRCV001214713 RCV001288966
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu)	SNV Germline	Chr19:2433902	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to not specified	Criteria Provided Conflicting Classifications		rs_369942106	2 SubmittersRCV001239523 RCV001819937
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter)	SNV Germline	Chr17:46929572	Pathogenic	Progressive myoclonic epilepsy Condition: not provided Muscular dystrophy, congenital, with or without seizures	Criteria Provided Multiple Submitters No Conflicts		rs_1466441723	3 SubmittersRCV001880060 RCV001263455 RCV002472358
NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter)	SNV Germline	Chr17:46932182	Pathogenic	Progressive myoclonic epilepsy type 6 Muscular dystrophy, congenital, with or without seizures	No Assertion Criteria Provided		rs_201616211	2 SubmittersRCV001563704 RCV003152624
NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys)	SNV Germline	Chr7:66638272	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_769991459	2 SubmittersRCV001297140 RCV001562390
NM_005506.4(SCARB2):c.1282A>G (p.Met428Val)	SNV Germline	Chr4:76163341	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_746370059	2 SubmittersRCV001315881 RCV002545087
NM_005670.4(EPM2A):c.794A>G (p.His265Arg)	SNV Germline	Chr6:145627618	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_201053542	1 SubmittersRCV001352138
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)	SNV Germline	Chr7:66633338	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_867319899	4 SubmittersRCV001351563 RCV001773706
NM_005506.4(SCARB2):c.24G>A (p.Thr8=)	SNV Germline	Chr4:76213520	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Action myoclonus-renal failure syndrome	Criteria Provided Conflicting Classifications		rs_772501510	2 SubmittersRCV001371855 RCV002493891
NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser)	SNV Germline	Chr11:17771900	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_368573465	2 SubmittersRCV001367922 RCV004037025
NM_004287.5(GOSR2):c.1A>G (p.Met1Val)	SNV Germline	Chr17:46923193	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_879328855	4 SubmittersRCV001371323 RCV001537382 RCV002420834
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)	SNV Germline	Chr6:145735247	Likely pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_1362231306	1 SubmittersRCV001379905
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)	SNV Germline	Chr6:145735414	Likely pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_2128649886	1 SubmittersRCV001379553
NM_004287.5(GOSR2):c.204-1G>T	SNV Germline	Chr17:46932066	Likely pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_1187190721	1 SubmittersRCV001377171
NM_005670.4(EPM2A):c.302-2A>G	SNV Germline	Chr6:145686298	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_780648601	1 SubmittersRCV001380053
NM_032737.4(LMNB2):c.999T>G (p.Asp333Glu)	SNV Germline	Chr19:2434498	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to not specified	Criteria Provided Conflicting Classifications		rs_201032266	2 SubmittersRCV001440342 RCV004038380
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)	SNV Germline	Chr8:18084056	Pathogenic/Likely pathogenic	Condition: not provided Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Farber lipogranulomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_966267709	3 SubmittersRCV001507724 RCV001647301 RCV002506589
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr)	SNV Germline	Chr7:66639047	Likely pathogenic	Progressive myoclonic epilepsy type 3	No Assertion Criteria Provided		rs_2116775490	1 SubmittersRCV001548756
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)	SNV Germline	Chr11:17736492	Likely pathogenic	Progressive myoclonic epilepsy type 7	Criteria Provided Single Submitter		rs_756544748	1 SubmittersRCV001775367
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)	SNV Germline	Chr8:18071330	Pathogenic/Likely pathogenic	Condition: not provided Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Farber lipogranulomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_769683272	2 SubmittersRCV001780646 RCV002482308
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro)	SNV Germline	Chr7:66638396	Likely pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter		rs_765235486	1 SubmittersRCV001806368
NM_153033.5(KCTD7):c.205C>G (p.Leu69Val)	SNV Germline	Chr7:66633335	Pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter		rs_2116763829	1 SubmittersRCV001806391
NM_004287.5(GOSR2):c.95-1G>C	SNV Germline	Chr17:46931098	Likely pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_1186314496	1 SubmittersRCV001959364
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter)	SNV Germline	Chr7:66629203	Pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter		rs_2116755694	1 SubmittersRCV001999824
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter)	SNV Germline	Chr17:46932164	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_764802895	1 SubmittersRCV001907923
NM_005506.4(SCARB2):c.1113+1G>T	SNV Germline	Chr4:76169866	Likely pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_2109937707	1 SubmittersRCV001989668
NM_021267.5(CERS1):c.571G>A (p.Val191Ile)	SNV Germline	Chr19:18884106	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 8 Condition: not provided	Criteria Provided Conflicting Classifications		rs_768421620	2 SubmittersRCV001931350 RCV002511116
NM_005670.4(EPM2A):c.302-1G>C	SNV Germline	Chr6:145686297	Pathogenic/Likely pathogenic	Progressive myoclonic epilepsy Lafora disease	Criteria Provided Multiple Submitters No Conflicts		rs_369463720	2 SubmittersRCV001882329 RCV002246579
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)	SNV Germline	Chr11:17772290	Pathogenic/Likely pathogenic	Progressive myoclonic epilepsy type 7	Criteria Provided Multiple Submitters No Conflicts		rs_2133805364	2 SubmittersRCV001932465
NM_032737.4(LMNB2):c.698C>T (p.Thr233Met)	SNV Germline	Chr19:2435158	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to not specified	Criteria Provided Conflicting Classifications		rs_779614513	2 SubmittersRCV001903182 RCV004041603
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)	SNV Germline	Chr6:145735241	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_750988816	1 SubmittersRCV002035390
NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys)	SNV Germline	Chr7:66639189	Pathogenic/Likely pathogenic	Progressive myoclonic epilepsy type 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_141191660	2 SubmittersRCV001933893 RCV003319493
NM_005670.4(EPM2A):c.301+1G>T	SNV Germline	Chr6:145735197	Pathogenic	Progressive myoclonic epilepsy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1361221383	2 SubmittersRCV002043132 RCV003126092
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter)	SNV Germline	Chr7:66638326	Pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter		rs_1207922864	1 SubmittersRCV001903883
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter)	SNV Germline	Chr17:46923208	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter		rs_2146691974	1 SubmittersRCV001940185
NM_032737.4(LMNB2):c.1535A>G (p.Glu512Gly)	SNV Germline	Chr19:2432471	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to not specified	Criteria Provided Conflicting Classifications		rs_151318750	2 SubmittersRCV002146150 RCV004046629
NM_032737.4(LMNB2):c.1852T>C (p.Tyr618His)	SNV Germline	Chr19:2430922	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 9 Lipodystrophy, partial, acquired, susceptibility to not specified	Criteria Provided Conflicting Classifications		rs_559532964	2 SubmittersRCV002193778 RCV004047111
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)	SNV Germline	Chr7:66633411	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy type 3	Criteria Provided Conflicting Classifications		rs_984651812	2 SubmittersRCV002250070
NM_005506.4(SCARB2):c.390T>C (p.Ile130=)	SNV Germline	Chr4:76180987	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy	Criteria Provided Conflicting Classifications			2 SubmittersRCV002287960 RCV003746614
NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)	SNV Germline	Chr8:18057565	Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002289101
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)	SNV Germline	Chr6:145735243	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter			1 SubmittersRCV003037197
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)	SNV Germline	Chr7:66638305	Pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter			1 SubmittersRCV003088277
NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)	SNV Germline	Chr7:66638882	Likely pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter			1 SubmittersRCV003100267
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)	SNV Germline	Chr6:145735201	Conflicting classifications of pathogenicity	Progressive myoclonic epilepsy Lafora disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV002824395 RCV003988883
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)	SNV Germline	Chr6:145735403	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter			1 SubmittersRCV002847744
NM_005670.4(EPM2A):c.301+2T>C	SNV Germline	Chr6:145735196	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter			1 SubmittersRCV002866125
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)	SNV Germline	Chr4:76213456	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter			1 SubmittersRCV003011917
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)	SNV Germline	Chr17:46932125	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter			1 SubmittersRCV003055173
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)	SNV Germline	Chr6:145735320	Pathogenic/Likely pathogenic	Lafora disease Progressive myoclonic epilepsy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003129592 RCV003746657
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)	SNV Germline	Chr11:17772117	Likely pathogenic	Progressive myoclonic epilepsy type 7	Criteria Provided Single Submitter			1 SubmittersRCV003320015
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)	SNV Germline	Chr11:17772298	Conflicting classifications of pathogenicity	Inborn genetic diseases Progressive myoclonic epilepsy type 7	Criteria Provided Conflicting Classifications			2 SubmittersRCV003356935 RCV003750965
NM_153033.5(KCTD7):c.294C>T (p.Asp98=)	SNV Germline	Chr7:66633424	Likely pathogenic	Progressive myoclonic epilepsy type 3	Criteria Provided Single Submitter			1 SubmittersRCV003448789
NM_005506.4(SCARB2):c.1240-2A>G	SNV Germline	Chr4:76163385	Likely pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter			1 SubmittersRCV003583740
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)	SNV Germline	Chr6:145627551	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter			1 SubmittersRCV003583622
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr4:76169950	Pathogenic	Progressive myoclonic epilepsy	Criteria Provided Single Submitter			1 SubmittersRCV003747391
NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)	SNV Germline	Chr11:17772293	Pathogenic	Progressive myoclonic epilepsy type 7	Criteria Provided Single Submitter			1 SubmittersRCV003752393

NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter)

SNV
Germline

Chr7:66633425

Pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

CA114572

rs_267607199

2 SubmittersRCV000000886

NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)

SNV
Germline

Chr6:145627691

Pathogenic

Lafora disease
Condition: not provided
Progressive myoclonic epilepsy
Myoclonic epilepsy of Lafora 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA314500

rs_104893950

13 SubmittersRCV000003244 RCV000187394 RCV000703218 RCV004576870 RCV002371755

NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)

SNV
Germline

Chr6:145627577

Pathogenic

Condition: not provided
Progressive myoclonic epilepsy
Myoclonic epilepsy of Lafora 1

Criteria Provided
Single Submitter

CA252542

rs_137852917

3 SubmittersRCV000675700 RCV003746498 RCV004576871

NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)

SNV
Germline

Chr6:145686276

Pathogenic

Progressive myoclonic epilepsy
Myoclonic epilepsy of Lafora 1

Criteria Provided
Single Submitter

CA252543

rs_137852915

2 SubmittersRCV001851604 RCV004576872

NM_005670.4(EPM2A):c.512G>A (p.Arg171His)

SNV
Germline

Chr6:145635451

Likely pathogenic

Lafora disease
Progressive myoclonic epilepsy
Condition: not provided
Myoclonic epilepsy of Lafora 1

Criteria Provided
Single Submitter

CA252546

rs_137852916

4 SubmittersRCV000003248 RCV000469417 RCV004566675 RCV004576874

NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)

SNV
Germline

Chr6:145735405

Pathogenic/Likely pathogenic

Condition: not provided
Progressive myoclonic epilepsy
Myoclonic epilepsy of Lafora 1

Criteria Provided
Multiple Submitters
No Conflicts

CA252549

rs_104893955

3 SubmittersRCV000494425 RCV002512695 RCV004576876

NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr4:76174276

Pathogenic

Action myoclonus-renal failure syndrome
Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA118740

rs_121909118

6 SubmittersRCV000007803 RCV000488955 RCV001390386

NM_000100.4(CSTB):c.67-1G>C

SNV
Germline

Chr21:43774760

Conflicting classifications of pathogenicity

Unverricht-Lundborg syndrome
Condition: not provided
Inborn genetic diseases
Progressive myoclonic epilepsy
Chorea
Dyskinesia
Encephalopathy
Microcephaly
Cerebral dysmyelination

Criteria Provided
Conflicting Classifications

CA209054

rs_147484110

17 SubmittersRCV000008903 RCV000187278 RCV000622443 RCV000638304 RCV001003638 RCV001254919

NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)

SNV
Germline

Chr21:43774297

Pathogenic

Unverricht-Lundborg syndrome
8 conditions
Childhood epilepsy with centrotemporal spikes
Progressive myoclonic epilepsy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA314304

rs_74315442

8 SubmittersRCV000008904 RCV000626611 RCV000656065 RCV001387303 RCV002472925

NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)

SNV
Germline

Chr17:46935122

Pathogenic

Progressive myoclonic epilepsy type 6
Condition: not provided
Muscular dystrophy
Progressive myoclonic epilepsy
Muscular dystrophy, congenital, with or without seizures

Criteria Provided
Multiple Submitters
No Conflicts

CA129191

rs_387906881

10 SubmittersRCV000023359 RCV000478768 RCV000509417 RCV001068291 RCV002472356

NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)

SNV
Germline

Chr3:64157305

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myoclonic epilepsy, progressive, X-linked
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA354158

rs_139747674

5 SubmittersRCV000326248 RCV000946236 RCV000987284 RCV001087878 RCV001149703

NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)

SNV
Germline

Chr3:64099773

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 5
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA129419

rs_387906989

4 SubmittersRCV000023710 RCV000679893 RCV002247388 RCV004555849

NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)

SNV
Germline

Chr8:18075541

Pathogenic/Likely pathogenic

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided
ASAH1-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA129940

rs_145873635

9 SubmittersRCV000029199 RCV000724837 RCV001270895

NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)

SNV
Germline

Chr7:66638912

Pathogenic/Likely pathogenic

Epilepsy, progressive myoclonic, 3, with intracellular inclusions
Condition: not provided
Progressive myoclonic epilepsy type 3
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA129977

rs_387907246

6 SubmittersRCV000030608 RCV000519234 RCV000548914 RCV001582502 RCV002513270

NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)

SNV
Germline

Chr7:66633410

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

CA130028

rs_387907260

5 SubmittersRCV000030687

NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile)

SNV
Germline

Chr7:66639180

Pathogenic

Progressive myoclonic epilepsy type 3

No Assertion Criteria Provided

CA130029

rs_387907261

1 SubmittersRCV000030688

NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr)

SNV
Germline

Chr7:66638281

Pathogenic

Progressive myoclonic epilepsy type 3

No Assertion Criteria Provided

CA130030

rs_387907262

1 SubmittersRCV000030689

NM_153033.5(KCTD7):c.322C>A (p.Leu108Met)

SNV
Germline

Chr7:66638260

Pathogenic

Progressive myoclonic epilepsy type 3

No Assertion Criteria Provided

CA130032

rs_387907263

1 SubmittersRCV000030690

NM_153033.5(KCTD7):c.133C>T (p.Leu45=)

SNV
Germline

Chr7:66629197

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

CA231210

rs_587780370

3 SubmittersRCV000117375 RCV000443023 RCV001082414

NM_005670.4(EPM2A):c.24G>A (p.Val8=)

SNV
Germline

Chr6:145735475

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive myoclonic epilepsy
Lafora disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232477

rs_587780938

8 SubmittersRCV000186627 RCV000675706 RCV001081094 RCV003224163 RCV002312560

NM_005670.4(EPM2A):c.129C>G (p.Ala43=)

SNV
Germline

Chr6:145735370

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232479

rs_547147183

4 SubmittersRCV000186628 RCV000724454 RCV001085709 RCV002312561

NM_004287.5(GOSR2):c.29+8C>T

SNV
Germline

Chr17:46923229

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 6

Criteria Provided
Conflicting Classifications

CA291099

rs_573306680

5 SubmittersRCV000125252 RCV000725870 RCV001088528 RCV001124181

NM_153033.5(KCTD7):c.687T>C (p.Asp229=)

SNV
Germline

Chr7:66639049

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy type 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232545

rs_372150992

8 SubmittersRCV000186636 RCV001089440 RCV000724096 RCV002312900

NM_153033.5(KCTD7):c.384G>A (p.Glu128=)

SNV
Germline

Chr7:66638322

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy type 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA291855

rs_145238250

8 SubmittersRCV000126504 RCV000557342 RCV001701679 RCV002312901

NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr21:43774690

Pathogenic/Likely pathogenic

Condition: not provided
Unverricht-Lundborg syndrome
Inborn genetic diseases
Progressive myoclonic epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA314286

rs_545986367

6 SubmittersRCV000187279 RCV000202565 RCV000622652 RCV000811370

NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)

SNV
Germline

Chr11:17772053

Pathogenic/Likely pathogenic

Progressive myoclonic epilepsy type 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA214540

rs_727502818

7 SubmittersRCV000149909 RCV002371993 RCV003482236

NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)

SNV
Germline

Chr6:145686222

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy
Cataract
Severe global developmental delay
Microcephaly
Condition: not provided
Inborn genetic diseases
EPM2A-related disorder

Criteria Provided
Conflicting Classifications

CA295611

rs_150452237

7 SubmittersRCV000153197 RCV000232652 RCV000626888 RCV001704109 RCV002345488 RCV003927479

NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=)

SNV
Germline

Chr3:64198805

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA234722

rs_727504106

3 SubmittersRCV000153768 RCV000349185 RCV002056041

NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)

SNV
Germline

Chr8:18059639

Pathogenic

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

No Assertion Criteria Provided

CA185927

rs_794729663

1 SubmittersRCV000157604

NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)

SNV
Germline

Chr8:18064458

Pathogenic/Likely pathogenic

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided
ASAH1-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA185930

rs_200455852

6 SubmittersRCV000157605 RCV000853058 RCV004551355

NM_021267.5(CERS1):c.549C>G (p.His183Gln)

SNV
Germline

Chr19:18884128

Pathogenic

Progressive myoclonic epilepsy type 8

No Assertion Criteria Provided

CA185990

rs_200024180

1 SubmittersRCV000161146

NM_000100.4(CSTB):c.121G>A (p.Val41Met)

SNV
Germline

Chr21:43774705

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Unverricht-Lundborg syndrome
Progressive myoclonic epilepsy
Inborn genetic diseases
CSTB-related disorder

Criteria Provided
Conflicting Classifications

CA241275

rs_143153487

10 SubmittersRCV000175522 RCV000187274 RCV000624931 RCV001084812 RCV002362892 RCV003947486

NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)

SNV
Germline

Chr7:66633320

Conflicting classifications of pathogenicity

Inborn genetic diseases
Progressive myoclonic epilepsy type 3
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA241849

rs_201296399

7 SubmittersRCV000624660 RCV000645671 RCV000712134 RCV001797663

NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)

SNV
Germline

Chr4:76180995

Conflicting classifications of pathogenicity

not specified
Action myoclonus-renal failure syndrome
Progressive myoclonic epilepsy
Condition: not provided
Focal segmental glomerulosclerosis
Inborn genetic diseases
SCARB2-related disorder

Criteria Provided
Conflicting Classifications

CA243359

rs_143558324

9 SubmittersRCV000188796 RCV000768074 RCV001085379 RCV000724756 RCV002294065 RCV002354455 RCV003917648

NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)

SNV
Germline

Chr6:145635283

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy
Intellectual disability
Inborn genetic diseases
EPM2A-related disorder

Criteria Provided
Conflicting Classifications

CA243361

rs_147399860

9 SubmittersRCV000177234 RCV001083180 RCV001252481 RCV002314628 RCV003907592

NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)

SNV
Germline

Chr7:66639155

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

CA245487

rs_200415747

4 SubmittersRCV000178394 RCV001852214

NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=)

SNV
Germline

Chr3:64160006

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA245505

rs_751122249

2 SubmittersRCV000178417 RCV002054115

NM_004287.5(GOSR2):c.478-4C>G

SNV
Germline

Chr17:46938595

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA246673

rs_777442803

2 SubmittersRCV000179432 RCV001414306

NM_198859.4(PRICKLE2):c.788-6T>C

SNV
Germline

Chr3:64147708

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA203530

rs_180903875

4 SubmittersRCV000180020 RCV000544981 RCV001148150

NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=)

SNV
Germline

Chr3:64099624

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA247837

rs_367685080

2 SubmittersRCV000180389 RCV001519840

NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)

SNV
Germline

Chr3:64099395

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 5
PRICKLE2-related disorder

Criteria Provided
Conflicting Classifications

CA247841

rs_148689951

3 SubmittersRCV000180391 RCV001078811 RCV003977483

NM_005506.4(SCARB2):c.445G>A (p.Val149Met)

SNV
Germline

Chr4:76179684

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Action myoclonus-renal failure syndrome
Progressive myoclonic epilepsy
Inborn genetic diseases
SCARB2-related disorder

Criteria Provided
Conflicting Classifications

CA317052

rs_147159813

10 SubmittersRCV000188787 RCV000725214 RCV000768072 RCV001085976 RCV002311280 RCV003907663

NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)

SNV
Germline

Chr4:76181016

Pathogenic/Likely pathogenic

Condition: not provided
Action myoclonus-renal failure syndrome
Progressive myoclonic epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA317064

rs_200053119

4 SubmittersRCV000188795 RCV000258860 RCV000698181

NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)

SNV
Germline

Chr4:76213464

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy
Childhood epilepsy with centrotemporal spikes
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317088

rs_368906199

5 SubmittersRCV000188809 RCV000457049 RCV000655992 RCV001508152 RCV002314751

NM_005670.4(EPM2A):c.974G>A (p.Arg325His)

SNV
Germline

Chr6:145627438

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA314478

rs_777308612

2 SubmittersRCV000187383 RCV001218707

NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)

SNV
Germline

Chr6:145627690

Conflicting classifications of pathogenicity

not specified
Seizure
Condition: not provided
Progressive myoclonic epilepsy
Lafora disease
Inborn genetic diseases
EPM2A-related disorder

Criteria Provided
Conflicting Classifications

CA314503

rs_146321088

10 SubmittersRCV000187396 RCV000720116 RCV000727316 RCV001084331 RCV001331453 RCV002317095 RCV003967473

NM_005670.4(EPM2A):c.620G>A (p.Arg207His)

SNV
Germline

Chr6:145635343

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy
EPM2A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314488

rs_571938170

5 SubmittersRCV000726476 RCV001088121 RCV003977496 RCV002362981

NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr)

SNV
Germline

Chr6:145735342

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314492

rs_763719276

3 SubmittersRCV000706648 RCV001721193 RCV002399696

NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)

SNV
Germline

Chr6:145735363

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy
Lafora disease
Seizure
Inborn genetic diseases
EPM2A-related disorder

Criteria Provided
Conflicting Classifications

CA314520

rs_374338349

6 SubmittersRCV000187406 RCV000528451 RCV000765870 RCV001263351 RCV002381628 RCV003927738

NM_153033.5(KCTD7):c.256T>C (p.Tyr86His)

SNV
Germline

Chr7:66633386

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA315687

rs_149255570

4 SubmittersRCV000533139 RCV002426906 RCV001705019

NM_153033.5(KCTD7):c.273C>T (p.Ser91=)

SNV
Germline

Chr7:66633403

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive myoclonic epilepsy type 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315679

rs_139585796

7 SubmittersRCV000188015 RCV000733149 RCV001081544 RCV002317118

NM_153033.5(KCTD7):c.335G>A (p.Arg112His)

SNV
Germline

Chr7:66638273

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

CA315693

rs_774026720

3 SubmittersRCV000188023 RCV000761541

NM_153033.5(KCTD7):c.456G>A (p.Val152=)

SNV
Germline

Chr7:66638394

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

CA315672

rs_796052686

3 SubmittersRCV000188011 RCV000545317

NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser)

SNV
Germline

Chr7:66639066

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

CA315696

rs_796052689

2 SubmittersRCV000188025 RCV001852471

NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)

SNV
Germline

Chr16:28488643

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Condition: not provided
Progressive myoclonic epilepsy type 3
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313772

rs_137906617

14 SubmittersRCV000300798 RCV000725785 RCV000791120 RCV001086732 RCV001121029 RCV002317078

NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)

SNV
Germline

Chr17:46929530

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314894

rs_113817924

6 SubmittersRCV000187612 RCV000307040 RCV002317105

NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)

SNV
Germline

Chr17:46931152

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314898

rs_143754727

4 SubmittersRCV000364005 RCV000858536 RCV002390493

NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro)

SNV
Germline

Chr17:46932185

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314908

rs_138510884

5 SubmittersRCV000187619 RCV001478495 RCV002444759

NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe)

SNV
Germline

Chr17:46935080

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA314901

rs_137975476

2 SubmittersRCV000187615 RCV001408579

NM_000100.4(CSTB):c.193G>A (p.Val65Ile)

SNV
Germline

Chr21:43774306

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy
Unverricht-Lundborg syndrome

Criteria Provided
Conflicting Classifications

CA314279

rs_570768038

3 SubmittersRCV000187275 RCV000700615 RCV001142989

NM_032737.4(LMNB2):c.469C>T (p.His157Tyr)

SNV
Germline

Chr19:2438464

Pathogenic

Progressive myoclonic epilepsy type 9

No Assertion Criteria Provided

CA204964

rs_797045143

1 SubmittersRCV000190899

NM_004287.5(GOSR2):c.336+1G>A

SNV
Germline

Chr17:46932200

Pathogenic/Likely pathogenic

Progressive myoclonic epilepsy type 6
Condition: not provided
Progressive myoclonic epilepsy
Inborn genetic diseases
Muscular dystrophy, congenital, with or without seizures

Criteria Provided
Multiple Submitters
No Conflicts

CA208730

rs_141554661

7 SubmittersRCV000194518 RCV000439078 RCV000703812 RCV002317685 RCV002478670

NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile)

SNV
Germline

Chr11:17772520

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy type 7
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA249087

rs_146311746

4 SubmittersRCV000202888 RCV000690137 RCV001289075 RCV002311317

NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)

SNV
Germline

Chr4:76163353

Pathogenic

Action myoclonus-renal failure syndrome
Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10602674

rs_886041078

4 SubmittersRCV000258865 RCV001859529 RCV002374447

NM_005506.4(SCARB2):c.704+1G>A

SNV
Germline

Chr4:76176436

Pathogenic

Action myoclonus-renal failure syndrome
Progressive myoclonic epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602677

rs_886041076

3 SubmittersRCV000258872 RCV001385676

NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)

SNV
Germline

Chr3:64099483

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA2479492

rs_200220646

4 SubmittersRCV000358470 RCV001086846 RCV001149606

NM_005506.4(SCARB2):c.486C>T (p.Ala162=)

SNV
Germline

Chr4:76179643

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive myoclonic epilepsy
Inborn genetic diseases
SCARB2-related disorder

Criteria Provided
Conflicting Classifications

CA2970324

rs_143518519

5 SubmittersRCV000354044 RCV000725952 RCV001089343 RCV002338848 RCV003957474

NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=)

SNV
Germline

Chr3:64146900

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA10616564

rs_886058800

2 SubmittersRCV000366463 RCV001504592

NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=)

SNV
Germline

Chr3:64153333

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA2479773

rs_567814417

2 SubmittersRCV000278685 RCV002061234

NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=)

SNV
Germline

Chr3:64147173

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA2479653

rs_745530308

2 SubmittersRCV000322488 RCV001429591

NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)

SNV
Germline

Chr3:64147442

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
not specified
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA2479697

rs_771168722

3 SubmittersRCV000377171 RCV000517222 RCV002057895

NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=)

SNV
Germline

Chr3:64153279

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA2479768

rs_144338942

2 SubmittersRCV000373198 RCV000536867

NM_198859.4(PRICKLE2):c.-370G>A

SNV
Germline

Chr3:64225239

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10619388

rs_139238137

2 SubmittersRCV000359903 RCV003430886

NM_153033.5(KCTD7):c.369A>C (p.Arg123=)

SNV
Germline

Chr7:66638307

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4278244

rs_753658170

2 SubmittersRCV000378037 RCV000840701

NM_004287.5(GOSR2):c.*18G>T

SNV
Germline

Chr17:46938778

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
not specified

Criteria Provided
Conflicting Classifications

CA8621371

rs_778066395

2 SubmittersRCV000279102 RCV000423780

NM_004287.5(GOSR2):c.336+9G>A

SNV
Germline

Chr17:46932208

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
not specified
Progressive myoclonic epilepsy type 6
GOSR2-related disorder

Criteria Provided
Conflicting Classifications

CA8621233

rs_200210055

4 SubmittersRCV000386264 RCV000438604 RCV001094534 RCV003940279

NM_004287.5(GOSR2):c.29+13C>T

SNV
Germline

Chr17:46923234

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 6
not specified
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA8621104

rs_747791818

3 SubmittersRCV000273022 RCV000418567 RCV002521112

NM_004287.5(GOSR2):c.246T>C (p.Thr82=)

SNV
Germline

Chr17:46932109

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8621216

rs_141380070

4 SubmittersRCV000334065 RCV001553153 RCV002317840

NM_004287.5(GOSR2):c.363C>T (p.Asp121=)

SNV
Germline

Chr17:46935055

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA10650360

rs_886053078

2 SubmittersRCV000275507

NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp)

SNV
Germline

Chr6:145635476

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA4035148

rs_777767978

2 SubmittersRCV000413724 RCV001850991

NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)

SNV
Germline

Chr8:18064504

Pathogenic/Likely pathogenic

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided
ASAH1-related disorders
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA4650862

rs_371666412

5 SubmittersRCV000416939 RCV001861470 RCV004551416 RCV002502451

NM_005506.4(SCARB2):c.424-4G>A

SNV
Germline

Chr4:76179709

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2970330

rs_368869126

4 SubmittersRCV000727074 RCV001087300 RCV002328931

NM_005506.4(SCARB2):c.424-5C>T

SNV
Germline

Chr4:76179710

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided
Action myoclonus-renal failure syndrome
Inborn genetic diseases
SCARB2-related disorder

Criteria Provided
Conflicting Classifications

CA2970331

rs_192876326

5 SubmittersRCV000638329 RCV001704283 RCV002506052 RCV003243124 RCV003959935

NM_005670.4(EPM2A):c.301+5T>C

SNV
Germline

Chr6:145735193

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA4035218

rs_776655093

2 SubmittersRCV000438038 RCV001058008

NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter)

SNV
Germline

Chr6:145635468

Pathogenic/Likely pathogenic

Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA4035146

rs_781291421

2 SubmittersRCV000437398 RCV000638315

NM_005670.4(EPM2A):c.301+4T>C

SNV
Germline

Chr6:145735194

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA4035219

rs_761970395

2 SubmittersRCV001704415 RCV001861590

NM_005506.4(SCARB2):c.1194G>A (p.Thr398=)

SNV
Germline

Chr4:76166295

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA2970157

rs_574498998

2 SubmittersRCV000436083 RCV000801038

NM_153033.5(KCTD7):c.387C>T (p.Ala129=)

SNV
Germline

Chr7:66638325

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive myoclonic epilepsy type 3
KCTD7-related disorder

Criteria Provided
Conflicting Classifications

CA4278247

rs_140932942

5 SubmittersRCV000420919 RCV000727498 RCV001421064 RCV003970115

NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)

SNV
Germline

Chr7:66638993

Pathogenic

Condition: not provided
Inborn genetic diseases
Progressive myoclonic epilepsy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4278309

rs_750811871

4 SubmittersRCV000426305 RCV001266298 RCV002272231

NM_153033.5(KCTD7):c.291C>T (p.Ile97=)

SNV
Germline

Chr7:66633421

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

CA4278217

rs_769023482

3 SubmittersRCV000432309 RCV001164720

NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met)

SNV
Germline

Chr11:17772388

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Progressive myoclonic epilepsy type 7
KCNC1-related disorder

Criteria Provided
Conflicting Classifications

CA16606898

rs_1057524670

4 SubmittersRCV000444984 RCV001266991 RCV003133264 RCV003401436

NM_004287.5(GOSR2):c.203+3A>G

SNV
Germline

Chr17:46931210

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8621187

rs_201423456

3 SubmittersRCV000430511 RCV000794248 RCV002313046

NM_000100.4(CSTB):c.45G>A (p.Glu15=)

SNV
Germline

Chr21:43776225

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Unverricht-Lundborg syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16608085

rs_1057521317

3 SubmittersRCV000638335 RCV001142991 RCV001712232

NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)

SNV
Germline

Chr4:76174287

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided
Action myoclonus-renal failure syndrome
SCARB2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2970238

rs_149997095

6 SubmittersRCV000464893 RCV001508151 RCV002506113 RCV003925314 RCV002411444

NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr6:145735336

Pathogenic/Likely pathogenic

Condition: not provided
Lafora disease
Progressive myoclonic epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA16618251

rs_187930476

3 SubmittersRCV000485511 RCV001782962 RCV001851161

NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met)

SNV
Germline

Chr11:17772367

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 7

Criteria Provided
Conflicting Classifications

CA379808912

rs_1085307785

2 SubmittersRCV000489146 RCV001851315

NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)

SNV
Germline

Chr3:64147176

Conflicting classifications of pathogenicity

Condition: not provided
Childhood epilepsy with centrotemporal spikes
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA2479655

rs_202170644

5 SubmittersRCV000591474 RCV000655990 RCV001081842 RCV001147251

NM_032737.4(LMNB2):c.265-19C>T

SNV
Germline

Chr19:2444559

Conflicting classifications of pathogenicity

Condition: not provided
Lipodystrophy, partial, acquired, susceptibility to
Progressive myoclonic epilepsy type 9
Progressive myoclonic epilepsy type 9

Criteria Provided
Conflicting Classifications

CA9067952

rs_199577453

3 SubmittersRCV000513924 RCV002060212 RCV001336788

NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)

SNV
Germline

Chr3:64157168

Conflicting classifications of pathogenicity

not specified
Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

CA2479793

rs_367680077

3 SubmittersRCV000516614 RCV001148151 RCV000544174

NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)

SNV
Germline

Chr4:76179699

Conflicting classifications of pathogenicity

Condition: not provided
Action myoclonus-renal failure syndrome
Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2970329

rs_117600063

5 SubmittersRCV000519874 RCV000768073 RCV001089120 RCV002329233

NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)

SNV
Germline

Chr3:64146888

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA2479599

rs_144757200

2 SubmittersRCV000541109 RCV001145306

NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)

SNV
Germline

Chr4:76179549

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided
Action myoclonus-renal failure syndrome

Criteria Provided
Conflicting Classifications

CA2970310

rs_773017713

3 SubmittersRCV000535628 RCV001591223 RCV003139761

NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)

SNV
Germline

Chr6:145627667

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366190434

rs_1387516050

2 SubmittersRCV000556253 RCV001563435

NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)

SNV
Germline

Chr7:66633380

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3
not specified

Criteria Provided
Conflicting Classifications

CA4278209

rs_754476100

3 SubmittersRCV000554978 RCV002282222

NM_001112741.2(KCNC1):c.494C>T (p.Pro165Leu)

SNV
Germline

Chr11:17736496

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5906685

rs_749790557

2 SubmittersRCV000545692 RCV003159931

NM_001112741.2(KCNC1):c.1450C>G (p.Gln484Glu)

SNV
Germline

Chr11:17772544

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5906809

rs_376505218

2 SubmittersRCV000552153 RCV001574664

NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg)

SNV
Germline

Chr17:46923209

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8621101

rs_749270151

2 SubmittersRCV001400542 RCV002413494

NM_021267.5(CERS1):c.37C>T (p.Pro13Ser)

SNV
Germline

Chr19:18896036

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 8
CERS1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA306258914

rs_868136098

4 SubmittersRCV000547172 RCV003935533 RCV004024315

NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)

SNV
Germline

Chr11:17772356

Pathogenic/Likely pathogenic

Progressive myoclonic epilepsy type 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379808875

rs_1554991378

6 SubmittersRCV000578307 RCV000656267

NM_004287.5(GOSR2):c.447T>C (p.Asp149=)

SNV
Germline

Chr17:46935139

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

CA8621296

rs_750298260

2 SubmittersRCV000598129 RCV001413887

NM_153033.5(KCTD7):c.621C>A (p.Leu207=)

SNV
Germline

Chr7:66638983

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

CA4278305

rs_376944331

4 SubmittersRCV000594442 RCV001078544

NM_153033.5(KCTD7):c.145-2A>G

SNV
Germline

Chr7:66633273

Likely pathogenic

Inborn genetic diseases
Progressive myoclonic epilepsy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA367695426

rs_1554397774

3 SubmittersRCV000623181 RCV001042252

NM_153033.5(KCTD7):c.314+1G>A

SNV
Germline

Chr7:66633445

Likely pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

CA367695788

rs_1554397834

1 SubmittersRCV000645674

NM_021267.5(CERS1):c.16C>A (p.Pro6Thr)

SNV
Germline

Chr19:18896057

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 8
not specified

Criteria Provided
Conflicting Classifications

CA306258932

rs_1041161328

2 SubmittersRCV000652507 RCV004025868

NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp)

SNV
Germline

Chr19:2433996

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
not specified

Criteria Provided
Conflicting Classifications

CA9067535

rs_780728738

2 SubmittersRCV000652861 RCV004025889

NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp)

SNV
Germline

Chr19:2435156

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9067792

rs_148936043

2 SubmittersRCV000652851 RCV001532366

NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)

SNV
Germline

Chr19:2438273

Conflicting classifications of pathogenicity

Lipodystrophy, partial, acquired, susceptibility to
Progressive myoclonic epilepsy type 9
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9067840

rs_112419003

4 SubmittersRCV000652860 RCV000712223 RCV004025888

NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)

SNV
Germline

Chr7:66638895

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

rs_368001837

3 SubmittersRCV000677304

NM_153033.5(KCTD7):c.458G>A (p.Arg153His)

SNV
Germline

Chr7:66638396

Conflicting classifications of pathogenicity; Affects

Progressive myoclonic epilepsy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765235486

4 SubmittersRCV000680019 RCV002512122

NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)

SNV
Germline

Chr8:18062391

Conflicting classifications of pathogenicity

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Criteria Provided
Conflicting Classifications

rs_766257867

2 SubmittersRCV000679928

NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)

SNV
Germline

Chr8:18075542

Conflicting classifications of pathogenicity

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_779888892

3 SubmittersRCV000679927 RCV002531407

NM_001112741.2(KCNC1):c.1619G>A (p.Arg540His)

SNV
Germline

Chr11:17779570

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375362627

2 SubmittersRCV000704192 RCV002534422

NM_004287.5(GOSR2):c.337-2A>G

SNV
Germline

Chr17:46935027

Likely pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_1568177307

1 SubmittersRCV000701758

NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)

SNV
Germline

Chr11:17771785

Likely pathogenic

Progressive myoclonic epilepsy type 7

Criteria Provided
Single Submitter

rs_1565162623

1 SubmittersRCV000688406

NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp)

SNV
Germline

Chr11:17771803

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 7

Criteria Provided
Conflicting Classifications

rs_150993414

2 SubmittersRCV000700881

NM_032737.4(LMNB2):c.1298G>A (p.Arg433His)

SNV
Germline

Chr19:2434010

Conflicting classifications of pathogenicity

Lipodystrophy, partial, acquired, susceptibility to
Progressive myoclonic epilepsy type 9
not specified

Criteria Provided
Conflicting Classifications

rs_770685785

2 SubmittersRCV000699341 RCV004026472

NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)

SNV
Germline

Chr21:43776206

Pathogenic/Likely pathogenic

Progressive myoclonic epilepsy
Unverricht-Lundborg syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569006250

3 SubmittersRCV000697295 RCV001784328

NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu)

SNV
Germline

Chr17:46932076

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199930484

3 SubmittersRCV001692275 RCV001523407 RCV002313680

NM_021267.5(CERS1):c.274C>T (p.Gln92Ter)

SNV
Germline

Chr19:18893551

Pathogenic

Progressive myoclonic epilepsy type 8

Criteria Provided
Single Submitter

rs_561672108

1 SubmittersRCV000785041

NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)

SNV
Germline

Chr4:76166279

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided
Inborn genetic diseases
Action myoclonus-renal failure syndrome
SCARB2-related disorder

Criteria Provided
Conflicting Classifications

rs_147142116

5 SubmittersRCV000813787 RCV001552147 RCV002352427 RCV002487779 RCV003928283

NM_005670.4(EPM2A):c.758A>T (p.His253Leu)

SNV
Germline

Chr6:145627654

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_749937487

2 SubmittersRCV000793437 RCV002388420

NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr)

SNV
Germline

Chr11:17736423

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376363769

3 SubmittersRCV000819485 RCV002332697

NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter)

SNV
Germline

Chr17:46931188

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_1380954046

1 SubmittersRCV000816740

NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)

SNV
Germline

Chr19:2431619

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_201873197

3 SubmittersRCV000802110 RCV003884736 RCV004028091

NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)

SNV
Germline

Chr19:2432453

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to

Criteria Provided
Conflicting Classifications

rs_368745985

2 SubmittersRCV001289027 RCV000817904

NM_032737.4(LMNB2):c.281C>T (p.Ala94Val)

SNV
Germline

Chr19:2444524

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
Progressive myoclonic epilepsy type 9

Criteria Provided
Conflicting Classifications

rs_778299381

2 SubmittersRCV000808100 RCV001336789

NM_177924.5(ASAH1):c.125+1G>A

SNV
Germline

Chr8:18075540

Pathogenic

Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588999312

2 SubmittersRCV000820153 RCV001003311

NM_005506.4(SCARB2):c.1193C>T (p.Thr398Met)

SNV
Germline

Chr4:76166296

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_759493134

2 SubmittersRCV001439807 RCV004029342

NM_004287.5(GOSR2):c.94+7A>C

SNV
Germline

Chr17:46929591

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376231923

3 SubmittersRCV000862008 RCV001124182 RCV001644844

NM_004287.5(GOSR2):c.64C>T (p.Leu22=)

SNV
Germline

Chr17:46929554

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

rs_770760366

2 SubmittersRCV000865149 RCV001416953

NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp)

SNV
Germline

Chr19:2431573

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
Progressive myoclonic epilepsy type 9
LMNB2-related disorder

Criteria Provided
Conflicting Classifications

rs_145978406

3 SubmittersRCV000952022 RCV001336787 RCV003943043

NM_153033.5(KCTD7):c.551G>A (p.Arg184His)

SNV
Germline

Chr7:66638913

Likely pathogenic

Progressive myoclonic epilepsy type 3

No Assertion Criteria Provided

rs_747676224

1 SubmittersRCV000985179

NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)

SNV
Germline

Chr19:18879378

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 8

Criteria Provided
Conflicting Classifications

rs_1375601977

3 SubmittersRCV000986205

NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)

SNV
Germline

Chr6:145635403

Conflicting classifications of pathogenicity

Myoclonic epilepsy, progressive, X-linked
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

rs_1582935082

2 SubmittersRCV000987798 RCV002549688

NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)

SNV
Germline

Chr19:2434434

Conflicting classifications of pathogenicity

Lipodystrophy, partial, acquired, susceptibility to
Progressive myoclonic epilepsy type 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143717863

2 SubmittersRCV001227755 RCV000992276

NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)

SNV
Germline

Chr8:18059603

Pathogenic

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_771847002

3 SubmittersRCV001003338 RCV001544563

NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)

SNV
Germline

Chr8:18062409

Pathogenic

Farber lipogranulomatosis
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Criteria Provided
Single Submitter

rs_1588978873

1 SubmittersRCV001003309

NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)

SNV
Germline

Chr8:18071339

Likely pathogenic

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Criteria Provided
Single Submitter

rs_766395283

1 SubmittersRCV001003298

NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)

SNV
Germline

Chr8:18083982

Pathogenic

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Criteria Provided
Single Submitter

rs_886039750

1 SubmittersRCV001003312

NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)

SNV
Germline

Chr11:17772388

Likely pathogenic

Progressive myoclonic epilepsy type 7

Criteria Provided
Single Submitter

1 SubmittersRCV001004755

NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)

SNV
Germline

Chr6:145627577

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_137852917

1 SubmittersRCV001035776

NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter)

SNV
Germline

Chr6:145735425

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_1776817138

1 SubmittersRCV001068906

NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)

SNV
Germline

Chr7:66633381

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

rs_200575329

2 SubmittersRCV001051791

NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)

SNV
Germline

Chr11:17772109

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1849236683

4 SubmittersRCV001061926 RCV003311936

NM_032737.4(LMNB2):c.757G>A (p.Asp253Asn)

SNV
Germline

Chr19:2435099

Conflicting classifications of pathogenicity

Lipodystrophy, partial, acquired, susceptibility to
Progressive myoclonic epilepsy type 9
not specified

Criteria Provided
Conflicting Classifications

rs_776574641

2 SubmittersRCV001066198 RCV004030600

NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg)

SNV
Germline

Chr8:18075548

Conflicting classifications of pathogenicity

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1800367831

2 SubmittersRCV001095795 RCV001856297

NM_000100.4(CSTB):c.9C>T (p.Cys3=)

SNV
Germline

Chr21:43776261

Conflicting classifications of pathogenicity

Unverricht-Lundborg syndrome
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

rs_555930471

2 SubmittersRCV001138240 RCV002070623

NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=)

SNV
Germline

Chr3:64159991

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 5

Criteria Provided
Conflicting Classifications

rs_148888682

2 SubmittersRCV001149706 RCV001401992

NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val)

SNV
Germline

Chr11:17779489

Likely pathogenic

Progressive myoclonic epilepsy type 7

Criteria Provided
Single Submitter

rs_1485166517

1 SubmittersRCV001208247

NM_004287.5(GOSR2):c.336C>T (p.Asn112=)

SNV
Germline

Chr17:46932199

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_755211944

3 SubmittersRCV001203086 RCV002071860 RCV002451421

NM_005506.4(SCARB2):c.424-1G>A

SNV
Germline

Chr4:76179706

Likely pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_1732338984

1 SubmittersRCV001223724

NM_000100.4(CSTB):c.67-4C>G

SNV
Germline

Chr21:43774763

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2084002305

2 SubmittersRCV001214713 RCV001288966

NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu)

SNV
Germline

Chr19:2433902

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
not specified

Criteria Provided
Conflicting Classifications

rs_369942106

2 SubmittersRCV001239523 RCV001819937

NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter)

SNV
Germline

Chr17:46929572

Pathogenic

Progressive myoclonic epilepsy
Condition: not provided
Muscular dystrophy, congenital, with or without seizures

Criteria Provided
Multiple Submitters
No Conflicts

rs_1466441723

3 SubmittersRCV001880060 RCV001263455 RCV002472358

NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter)

SNV
Germline

Chr17:46932182

Pathogenic

Progressive myoclonic epilepsy type 6
Muscular dystrophy, congenital, with or without seizures

No Assertion Criteria Provided

rs_201616211

2 SubmittersRCV001563704 RCV003152624

NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys)

SNV
Germline

Chr7:66638272

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769991459

2 SubmittersRCV001297140 RCV001562390

NM_005506.4(SCARB2):c.1282A>G (p.Met428Val)

SNV
Germline

Chr4:76163341

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_746370059

2 SubmittersRCV001315881 RCV002545087

NM_005670.4(EPM2A):c.794A>G (p.His265Arg)

SNV
Germline

Chr6:145627618

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_201053542

1 SubmittersRCV001352138

NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)

SNV
Germline

Chr7:66633338

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_867319899

4 SubmittersRCV001351563 RCV001773706

NM_005506.4(SCARB2):c.24G>A (p.Thr8=)

SNV
Germline

Chr4:76213520

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Action myoclonus-renal failure syndrome

Criteria Provided
Conflicting Classifications

rs_772501510

2 SubmittersRCV001371855 RCV002493891

NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser)

SNV
Germline

Chr11:17771900

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368573465

2 SubmittersRCV001367922 RCV004037025

NM_004287.5(GOSR2):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:46923193

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_879328855

4 SubmittersRCV001371323 RCV001537382 RCV002420834

NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)

SNV
Germline

Chr6:145735247

Likely pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_1362231306

1 SubmittersRCV001379905

NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)

SNV
Germline

Chr6:145735414

Likely pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_2128649886

1 SubmittersRCV001379553

NM_004287.5(GOSR2):c.204-1G>T

SNV
Germline

Chr17:46932066

Likely pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_1187190721

1 SubmittersRCV001377171

NM_005670.4(EPM2A):c.302-2A>G

SNV
Germline

Chr6:145686298

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_780648601

1 SubmittersRCV001380053

NM_032737.4(LMNB2):c.999T>G (p.Asp333Glu)

SNV
Germline

Chr19:2434498

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
not specified

Criteria Provided
Conflicting Classifications

rs_201032266

2 SubmittersRCV001440342 RCV004038380

NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)

SNV
Germline

Chr8:18084056

Pathogenic/Likely pathogenic

Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_966267709

3 SubmittersRCV001507724 RCV001647301 RCV002506589

NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr)

SNV
Germline

Chr7:66639047

Likely pathogenic

Progressive myoclonic epilepsy type 3

No Assertion Criteria Provided

rs_2116775490

1 SubmittersRCV001548756

NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)

SNV
Germline

Chr11:17736492

Likely pathogenic

Progressive myoclonic epilepsy type 7

Criteria Provided
Single Submitter

rs_756544748

1 SubmittersRCV001775367

NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)

SNV
Germline

Chr8:18071330

Pathogenic/Likely pathogenic

Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_769683272

2 SubmittersRCV001780646 RCV002482308

NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro)

SNV
Germline

Chr7:66638396

Likely pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

rs_765235486

1 SubmittersRCV001806368

NM_153033.5(KCTD7):c.205C>G (p.Leu69Val)

SNV
Germline

Chr7:66633335

Pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

rs_2116763829

1 SubmittersRCV001806391

NM_004287.5(GOSR2):c.95-1G>C

SNV
Germline

Chr17:46931098

Likely pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_1186314496

1 SubmittersRCV001959364

NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter)

SNV
Germline

Chr7:66629203

Pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

rs_2116755694

1 SubmittersRCV001999824

NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter)

SNV
Germline

Chr17:46932164

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_764802895

1 SubmittersRCV001907923

NM_005506.4(SCARB2):c.1113+1G>T

SNV
Germline

Chr4:76169866

Likely pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_2109937707

1 SubmittersRCV001989668

NM_021267.5(CERS1):c.571G>A (p.Val191Ile)

SNV
Germline

Chr19:18884106

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 8
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768421620

2 SubmittersRCV001931350 RCV002511116

NM_005670.4(EPM2A):c.302-1G>C

SNV
Germline

Chr6:145686297

Pathogenic/Likely pathogenic

Progressive myoclonic epilepsy
Lafora disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_369463720

2 SubmittersRCV001882329 RCV002246579

NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)

SNV
Germline

Chr11:17772290

Pathogenic/Likely pathogenic

Progressive myoclonic epilepsy type 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_2133805364

2 SubmittersRCV001932465

NM_032737.4(LMNB2):c.698C>T (p.Thr233Met)

SNV
Germline

Chr19:2435158

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
not specified

Criteria Provided
Conflicting Classifications

rs_779614513

2 SubmittersRCV001903182 RCV004041603

NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)

SNV
Germline

Chr6:145735241

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_750988816

1 SubmittersRCV002035390

NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys)

SNV
Germline

Chr7:66639189

Pathogenic/Likely pathogenic

Progressive myoclonic epilepsy type 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_141191660

2 SubmittersRCV001933893 RCV003319493

NM_005670.4(EPM2A):c.301+1G>T

SNV
Germline

Chr6:145735197

Pathogenic

Progressive myoclonic epilepsy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1361221383

2 SubmittersRCV002043132 RCV003126092

NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr7:66638326

Pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

rs_1207922864

1 SubmittersRCV001903883

NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr17:46923208

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

rs_2146691974

1 SubmittersRCV001940185

NM_032737.4(LMNB2):c.1535A>G (p.Glu512Gly)

SNV
Germline

Chr19:2432471

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
not specified

Criteria Provided
Conflicting Classifications

rs_151318750

2 SubmittersRCV002146150 RCV004046629

NM_032737.4(LMNB2):c.1852T>C (p.Tyr618His)

SNV
Germline

Chr19:2430922

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 9
Lipodystrophy, partial, acquired, susceptibility to
not specified

Criteria Provided
Conflicting Classifications

rs_559532964

2 SubmittersRCV002193778 RCV004047111

NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)

SNV
Germline

Chr7:66633411

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy type 3

Criteria Provided
Conflicting Classifications

rs_984651812

2 SubmittersRCV002250070

NM_005506.4(SCARB2):c.390T>C (p.Ile130=)

SNV
Germline

Chr4:76180987

Conflicting classifications of pathogenicity

Condition: not provided
Progressive myoclonic epilepsy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002287960 RCV003746614

NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)

SNV
Germline

Chr8:18057565

Likely pathogenic

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002289101

NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)

SNV
Germline

Chr6:145735243

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

1 SubmittersRCV003037197

NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)

SNV
Germline

Chr7:66638305

Pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

1 SubmittersRCV003088277

NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)

SNV
Germline

Chr7:66638882

Likely pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

1 SubmittersRCV003100267

NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)

SNV
Germline

Chr6:145735201

Conflicting classifications of pathogenicity

Progressive myoclonic epilepsy
Lafora disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002824395 RCV003988883

NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)

SNV
Germline

Chr6:145735403

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

1 SubmittersRCV002847744

NM_005670.4(EPM2A):c.301+2T>C

SNV
Germline

Chr6:145735196

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

1 SubmittersRCV002866125

NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)

SNV
Germline

Chr4:76213456

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

1 SubmittersRCV003011917

NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)

SNV
Germline

Chr17:46932125

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

1 SubmittersRCV003055173

NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)

SNV
Germline

Chr6:145735320

Pathogenic/Likely pathogenic

Lafora disease
Progressive myoclonic epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003129592 RCV003746657

NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)

SNV
Germline

Chr11:17772117

Likely pathogenic

Progressive myoclonic epilepsy type 7

Criteria Provided
Single Submitter

1 SubmittersRCV003320015

NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)

SNV
Germline

Chr11:17772298

Conflicting classifications of pathogenicity

Inborn genetic diseases
Progressive myoclonic epilepsy type 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003356935 RCV003750965

NM_153033.5(KCTD7):c.294C>T (p.Asp98=)

SNV
Germline

Chr7:66633424

Likely pathogenic

Progressive myoclonic epilepsy type 3

Criteria Provided
Single Submitter

1 SubmittersRCV003448789

NM_005506.4(SCARB2):c.1240-2A>G

SNV
Germline

Chr4:76163385

Likely pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

1 SubmittersRCV003583740

NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)

SNV
Germline

Chr6:145627551

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

1 SubmittersRCV003583622

NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr4:76169950

Pathogenic

Progressive myoclonic epilepsy

Criteria Provided
Single Submitter

1 SubmittersRCV003747391

NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)

SNV
Germline

Chr11:17772293

Pathogenic

Progressive myoclonic epilepsy type 7

Criteria Provided
Single Submitter

1 SubmittersRCV003752393