Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)	SNV Germline	Chr3:87253798	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Condition: not provided	No Assertion Criteria Provided	CA224980	rs_63751126	3 SubmittersRCV000020696 RCV000084279
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)	SNV Germline	Chr3:87253472	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Condition: not provided	No Assertion Criteria Provided	CA224975	rs_63750355	3 SubmittersRCV000001722 RCV000084276
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)	SNV Germline	Chr1:11022418	Pathogenic	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340373	rs_80356730	6 SubmittersRCV000005539 RCV000693006 RCV001090806
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)	SNV Germline	Chr1:11022301	Pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA340375	rs_4884357	5 SubmittersRCV000005543 RCV000713825 RCV001851670
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)	SNV Germline	Chr1:11022451	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA340379	rs_80356733	6 SubmittersRCV000005545 RCV000516886 RCV001851671
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)	SNV Germline	Chr1:11022352	Pathogenic	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340381	rs_80356726	5 SubmittersRCV000005547 RCV001384596 RCV004546411
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu)	SNV Germline	Chr1:11022196	Pathogenic	FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED	No Assertion Criteria Provided	CA117346	rs_267607102	1 SubmittersRCV000005549
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)	SNV Germline	Chr16:50796443	Pathogenic	Brooke-Spiegler syndrome Familial multiple trichoepitheliomata Familial cylindromatosis Trichoepithelioma, multiple familial, 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Familial cylindromatosis Brooke-Spiegler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA214928	rs_121908390	3 SubmittersRCV000005575 RCV000005574 RCV000005573 RCV002496269
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	SNV Germline	Chr5:179836445	Conflicting classifications of pathogenicity	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Condition: not provided Spastic paraplegia-Paget disease of bone syndrome Amyotrophic lateral sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA203866	rs_104893941	14 SubmittersRCV000008576 RCV000184063 RCV000477939 RCV000490214 RCV000824803 RCV002508916 RCV001084507
NM_003900.5(SQSTM1):c.1165+1G>A	SNV Germline	Chr5:179833783	Pathogenic	Paget disease of bone 3 Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Myopathy, distal, with rimmed vacuoles	Criteria Provided Single Submitter	CA340743	rs_796051870	2 SubmittersRCV000008578 RCV000652541 RCV001799592
NM_007126.5(VCP):c.464G>A (p.Arg155His)	SNV Germline	Chr9:35065363	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA128983	rs_121909329	11 SubmittersRCV000008989 RCV000523065 RCV000540496 RCV001271089 RCV002336080
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)	SNV Germline	Chr9:35065364	Pathogenic/Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts	CA254398	rs_121909330	7 SubmittersRCV000008990 RCV000372207 RCV000685660 RCV001095424
NM_007126.5(VCP):c.695C>A (p.Ala232Glu)	SNV Germline	Chr9:35064167	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided	Criteria Provided Single Submitter	CA254400	rs_121909331	2 SubmittersRCV000008991 RCV001172005
NM_007126.5(VCP):c.283C>G (p.Arg95Gly)	SNV Germline	Chr9:35067910	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	No Assertion Criteria Provided	CA254402	rs_121909332	1 SubmittersRCV000008992
NM_007126.5(VCP):c.464G>C (p.Arg155Pro)	SNV Germline	Chr9:35065363	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA254404	rs_121909329	3 SubmittersRCV000008993 RCV001387337 RCV003137504
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)	SNV Germline	Chr9:35065255	Pathogenic/Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Charcot-Marie-Tooth disease type 2Y	Criteria Provided Multiple Submitters No Conflicts	CA254406	rs_121909334	11 SubmittersRCV000008994 RCV000023064 RCV000555373 RCV000516636 RCV002496309
NM_007126.5(VCP):c.476G>A (p.Arg159His)	SNV Germline	Chr9:35065351	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 VCP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA254408	rs_121909335	11 SubmittersRCV000008995 RCV000276565 RCV000639653 RCV003335021 RCV004532314
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)	SNV Germline	Chr17:46010389	Pathogenic	Frontotemporal dementia Condition: not provided Progressive supranuclear ophthalmoplegia Frontotemporal dementia Pick disease Parkinson disease, late-onset Progressive supranuclear palsy-parkinsonism syndrome Supranuclear palsy, progressive, 1 MAPT-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA225444	rs_63751273	11 SubmittersRCV000015313 RCV000084527 RCV000763405 RCV002508757 RCV003407335
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val)	SNV Germline	Chr17:45996657	Pathogenic	Frontotemporal dementia Condition: not provided	No Assertion Criteria Provided	CA225421	rs_63750376	2 SubmittersRCV000015315 RCV000084519
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)	SNV Germline	Chr17:46024061	Pathogenic	Frontotemporal dementia Condition: not provided Supranuclear palsy, progressive, 1 Frontotemporal dementia Pick disease Parkinson disease, late-onset Progressive supranuclear palsy-parkinsonism syndrome	Criteria Provided Multiple Submitters No Conflicts	CA225495	rs_63750424	10 SubmittersRCV000015316 RCV000084554 RCV002476970
NM_001377265.1(MAPT):c.2091+14C>T	SNV Germline	Chr17:46010416	Pathogenic	Frontotemporal dementia Condition: not provided	No Assertion Criteria Provided	CA225464	rs_63750972	2 SubmittersRCV000015317 RCV000084536
NM_001377265.1(MAPT):c.2091+1G>A	SNV Germline	Chr17:46010403	Pathogenic	Frontotemporal dementia	No Assertion Criteria Provided		rs_1568327531	1 SubmittersRCV000015320
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)	SNV Germline	Chr17:46018629	Pathogenic	Frontotemporal dementia Condition: not provided	Criteria Provided Single Submitter	CA225483	rs_63750570	3 SubmittersRCV000015321 RCV000084548
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)	SNV Germline	Chr17:46010324	Pathogenic	Frontotemporal dementia Condition: not provided Progressive supranuclear ophthalmoplegia Parkinson disease, late-onset Progressive supranuclear palsy-parkinsonism syndrome Frontotemporal dementia Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA225424	rs_63750756	6 SubmittersRCV000015322 RCV000084521 RCV000763404
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn)	SNV Germline	Chr17:46010401	Pathogenic	Frontotemporal dementia Condition: not provided	No Assertion Criteria Provided	CA225453	rs_63751165	2 SubmittersRCV000015323 RCV000084530
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)	SNV Germline	Chr17:46024010	Pathogenic/Likely pathogenic	Condition: not provided Frontotemporal dementia Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA257189	rs_63750512	3 SubmittersRCV000517183 RCV001851871 RCV000015324
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)	SNV Germline	Chr17:46010388	Pathogenic	Frontotemporal dementia Condition: not provided	No Assertion Criteria Provided	CA225439	rs_63751438	2 SubmittersRCV000015325 RCV000084526
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)	SNV Germline	Chr17:46010375	Pathogenic	Frontotemporal dementia Condition: not provided	Criteria Provided Single Submitter	CA225434	rs_63750912	3 SubmittersRCV000015326 RCV000084525
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val)	SNV Germline	Chr17:46018645	Pathogenic	Frontotemporal dementia Condition: not provided	No Assertion Criteria Provided	CA225485	rs_63750711	2 SubmittersRCV000015327 RCV000084549
NM_001377265.1(MAPT):c.14G>A (p.Arg5His)	SNV Germline	Chr17:45962351	Conflicting classifications of pathogenicity	Frontotemporal dementia MAPT-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA257191	rs_63750959	3 SubmittersRCV000015330 RCV000266864
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)	SNV Germline	Chr17:46014286	Pathogenic	Pick disease Condition: not provided Frontotemporal dementia	Criteria Provided Single Submitter	CA225475	rs_63750635	3 SubmittersRCV000015331 RCV000084544 RCV000995804
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)	SNV Germline	Chr17:45996638	Pathogenic	Frontotemporal dementia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA225417	rs_63750349	4 SubmittersRCV000015336 RCV000084517
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met)	SNV Germline	Chr17:46014277	Pathogenic	Frontotemporal dementia Condition: not provided	No Assertion Criteria Provided	CA225473	rs_63750092	2 SubmittersRCV000015338 RCV000084543
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)	SNV Germline	Chr14:73173663	Pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA341490	rs_63750306	6 SubmittersRCV000019751 RCV003105774 RCV001248367
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	SNV Germline	Chr14:73186860	Pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Dilated cardiomyopathy 1U Frontotemporal dementia Alzheimer disease 3 PSEN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA225034	rs_63750590	6 SubmittersRCV000019752 RCV000084318 RCV000534810 RCV002490394 RCV003407347
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	SNV Germline	Chr14:73192832	Pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA225104	rs_63750526	4 SubmittersRCV000019753 RCV000084361 RCV000542870
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)	SNV Germline	Chr14:73217225	Pathogenic	Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Alzheimer disease 3 Condition: not provided	Criteria Provided Single Submitter	CA225174	rs_661	3 SubmittersRCV000640605 RCV000019755 RCV000084407
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)	SNV Germline	Chr14:73173642	Pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA225015	rs_63751037	8 SubmittersRCV000019756 RCV000084304 RCV003764610
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)	SNV Germline	Chr14:73198100	Pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Alzheimer disease 3 Frontotemporal dementia	Criteria Provided Single Submitter	CA341491	rs_63750231	3 SubmittersRCV000019759 RCV000701892
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)	SNV Germline	Chr14:73198100	Pathogenic	Alzheimer disease 3 Alzheimer disease, familial, with spastic paraparesis and unusual plaques Condition: not provided Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA127837	rs_63750231	5 SubmittersRCV000019760 RCV000019761 RCV000084381 RCV002513125
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)	SNV Germline	Chr14:73219161	Likely pathogenic	Acne inversa, familial, 3 Dilated cardiomyopathy 1U Pick disease Frontotemporal dementia Alzheimer disease 3 Alzheimer disease 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA225181	rs_63751223	5 SubmittersRCV000763348 RCV000019766 RCV000084411
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	SNV Germline	Chr14:73192712	Pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Frontotemporal dementia Pick disease Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Dilated cardiomyopathy 1U Pick disease Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA258122	rs_63750082	8 SubmittersRCV000019773 RCV000518563 RCV000640609 RCV002482890
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	SNV Germline	Chr14:73171047	Likely pathogenic	Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Frontotemporal dementia Alzheimer disease 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224998	rs_63751399	5 SubmittersRCV001228362 RCV000019775 RCV000020084 RCV000084292
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)	SNV Germline	Chr14:73198072	Pathogenic	Alzheimer disease, familial, 3, with unusual plaques Condition: not provided Alzheimer disease 3 Spastic paraparesis Pick disease Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA127840	rs_63750886	5 SubmittersRCV000019778 RCV000084375 RCV000984888 RCV001204170 RCV002051789
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile)	SNV Germline	Chr14:73198094	Pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Pick disease Alzheimer disease 3 Frontotemporal dementia	Criteria Provided Single Submitter	CA225129	rs_63749891	3 SubmittersRCV000019782 RCV000084379 RCV002513126
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	SNV Germline	Chr14:73219177	Pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Frontotemporal dementia Pick disease Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA341492	rs_63750083	9 SubmittersRCV000019785 RCV000517533 RCV000640606
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)	SNV Germline	Chr14:73211811	Conflicting classifications of pathogenicity	Heart failure Primary dilated cardiomyopathy Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Dilated cardiomyopathy 1U	Criteria Provided Conflicting Classifications	CA258124	rs_121917809	3 SubmittersRCV000171844 RCV000877625 RCV000019786
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	SNV Germline	Chr14:73170945	Pathogenic	Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Alzheimer disease 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224983	rs_63749824	5 SubmittersRCV000529477 RCV000019787 RCV000084281
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)	SNV Germline	Chr14:73192744	Likely pathogenic	Alzheimer disease, familial, 3, with unusual plaques Acne inversa, familial, 3 Pick disease Alzheimer disease 3 Frontotemporal dementia	Criteria Provided Single Submitter	CA127843	rs_267606983	2 SubmittersRCV000019789 RCV001377214
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)	SNV Germline	Chr14:73217171	Pathogenic	Condition: not provided Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Alzheimer disease 3	Criteria Provided Single Submitter	CA225168	rs_63750218	3 SubmittersRCV000084403 RCV002514122 RCV000020082
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)	SNV Germline	Chr14:73192792	Pathogenic/Likely pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA341527	rs_63751287	5 SubmittersRCV000020086 RCV000712874 RCV000818883
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)	SNV Germline	Chr1:11022444	Pathogenic	TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Single Submitter		rs_80356732	1 SubmittersRCV000703167
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)	SNV Germline	Chr1:11022464	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA17876354	rs_80356734	8 SubmittersRCV000020657 RCV000993301 RCV001851975
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)	SNV Germline	Chr1:11022553	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 TARDBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150788	rs_367543041	7 SubmittersRCV000020663 RCV000106321 RCV000413910 RCV002513146 RCV003944833
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)	SNV Germline	Chr1:11022556	Pathogenic/Likely pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 See cases	Criteria Provided Multiple Submitters No Conflicts		rs_80356740	11 SubmittersRCV001579671 RCV000995885 RCV001851976 RCV002251918
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)	SNV Germline	Chr1:11022577	Conflicting classifications of pathogenicity	Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 TARDBP-related disorder	Criteria Provided Conflicting Classifications		rs_80356741	3 SubmittersRCV001570554 RCV003764614 RCV003407351
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)	SNV Germline	Chr1:11022578	Conflicting classifications of pathogenicity	Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_80356742	3 SubmittersRCV001732914 RCV001861034 RCV002329720
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)	SNV Germline	Chr1:11016874	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Condition: not provided Inborn genetic diseases TARDBP-related disorder	Criteria Provided Conflicting Classifications	CA586343	rs_80356715	8 SubmittersRCV000020670 RCV000821536 RCV001311624 RCV002426513 RCV003924849
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)	SNV Germline	Chr1:11022209	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Frontotemporal lobar degeneration, TARDBP-related TARDBP-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA586454	rs_80356718	7 SubmittersRCV000020671 RCV001851977 RCV002051795 RCV003904854 RCV003242964 RCV004546414
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	SNV Germline	Chr1:11022268	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided Motor neuron disease TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA586459	rs_80356719	6 SubmittersRCV000020672 RCV000412864 RCV000492328 RCV000529539
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)	SNV Germline	Chr1:11022290	Pathogenic	TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Condition: not provided Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA342121	rs_80356721	4 SubmittersRCV001390939 RCV002472934 RCV000020673
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)	SNV Germline	Chr1:11022292	Pathogenic	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Single Submitter	CA342123	rs_80356723	3 SubmittersRCV000020674 RCV003764615
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg)	SNV Germline	Chr1:11022292	Conflicting classifications of pathogenicity	Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Conflicting Classifications		rs_80356723	2 SubmittersRCV002474373 RCV002569399
NM_007375.4(TARDBP):c.931A>G (p.Met311Val)	SNV Germline	Chr1:11022340	Likely pathogenic	TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_80356725	3 SubmittersRCV000694078 RCV003334377 RCV003311663
NM_007126.5(VCP):c.475C>G (p.Arg159Gly)	SNV Germline	Chr9:35065352	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	No Assertion Criteria Provided	CA259748	rs_387906789	1 SubmittersRCV000023065
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn)	SNV Germline	Chr9:35059723	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	No Assertion Criteria Provided	CA128985	rs_387906790	1 SubmittersRCV000023066
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)	SNV Germline	Chr3:87245898	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	No Assertion Criteria Provided	CA260074	rs_281864934	2 SubmittersRCV000055937
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	SNV Germline	Chr16:31190398	Conflicting classifications of pathogenicity	Tremor, hereditary essential, 4 Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 Condition: not provided Frontotemporal dementia Amyotrophic lateral sclerosis Inborn genetic diseases FUS-related disorder	Criteria Provided Conflicting Classifications	CA130060	rs_186547381	8 SubmittersRCV000030718 RCV000765290 RCV000711709 RCV001847624 RCV003993752 RCV002381274 RCV003407373
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)	SNV Germline	Chr14:73198067	Pathogenic	Alzheimer disease 4 Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA225122	rs_63750900	5 SubmittersRCV000031858 RCV000084374 RCV000689465
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Hereditary spastic paraplegia Inborn genetic diseases Dysarthria Spastic paraparesis Gait ataxia Cerebral cortical atrophy Optic nerve hypoplasia Intellectual disability Spastic ataxia Sensorimotor neuropathy SPG7-related disorder Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA090884	rs_61755320	55 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV003421943 RCV002463623
NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val)	SNV Germline	Chr12:54283845	Likely pathogenic	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 Condition: not provided	Criteria Provided Single Submitter	CA144797	rs_397518452	2 SubmittersRCV000055649 RCV001781388
NM_002137.4(HNRNPA2B1):c.869A>T (p.Asp290Val)	SNV Germline	Chr7:26193346	Pathogenic	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	No Assertion Criteria Provided	CA144798	rs_397515326	1 SubmittersRCV000055652
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)	SNV Germline	Chr22:50627375	Pathogenic	Condition: not provided Metachromatic leukodystrophy Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA219008	rs_199476352	6 SubmittersRCV000058956 RCV000409776 RCV001090098
NM_014043.4(CHMP2B):c.532-1G>C	SNV Germline	Chr3:87253711	Pathogenic	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	No Assertion Criteria Provided	CA224977	rs_63750652	2 SubmittersRCV000084277 RCV002055246
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)	SNV Germline	Chr14:73170813	Conflicting classifications of pathogenicity	Condition: not provided Alzheimer disease Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Dilated cardiomyopathy 1U	Criteria Provided Conflicting Classifications	CA224981	rs_63750592	5 SubmittersRCV000084280 RCV000172094 RCV000640608 RCV001120058 RCV001120057
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)	SNV Germline	Chr14:73173571	Pathogenic/Likely pathogenic	Condition: not provided Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA225002	rs_63750450	5 SubmittersRCV000084295 RCV000640610 RCV001199924
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)	SNV Germline	Chr14:73173574	Pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225003	rs_63750730	2 SubmittersRCV000084296 RCV002514493
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser)	SNV Germline	Chr14:73173576	Pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225005	rs_63750550	2 SubmittersRCV000084297 RCV002514494
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)	SNV Germline	Chr14:73173630	Likely pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225012	rs_63750353	2 SubmittersRCV000084302 RCV001854472
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)	SNV Germline	Chr14:73173631	Pathogenic/Likely pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA225013	rs_63751278	4 SubmittersRCV000084303 RCV000824341 RCV003387756
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)	SNV Germline	Chr14:73173655	Pathogenic	Condition: not provided Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA225019	rs_63750004	4 SubmittersRCV000084308 RCV001071503 RCV003993799
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)	SNV Germline	Chr14:73173665	Pathogenic	Condition: not provided Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA225023	rs_63750391	3 SubmittersRCV000084311 RCV001854473
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)	SNV Germline	Chr14:73186878	Pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225045	rs_63751210	2 SubmittersRCV000084325 RCV002513897
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)	SNV Germline	Chr14:73186884	Pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225048	rs_63750963	2 SubmittersRCV000084327 RCV002514495
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)	SNV Germline	Chr14:73186902	Pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225057	rs_63749806	2 SubmittersRCV000084333 RCV002513898
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)	SNV Germline	Chr14:73192647	Pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225063	rs_63750311	2 SubmittersRCV000084336 RCV001857411
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)	SNV Germline	Chr14:73192721	Pathogenic	Condition: not provided Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225070	rs_63750053	2 SubmittersRCV000084340 RCV000640604
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)	SNV Unknown	Chr14:73192786	Likely pathogenic	Condition: not provided Alzheimer disease 3 Frontotemporal dementia Pick disease Dilated cardiomyopathy 1U Acne inversa, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA225090	rs_63749836	3 SubmittersRCV000084352 RCV000763347
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val)	SNV Germline	Chr14:73198040	Pathogenic	Condition: not provided Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225110	rs_63751420	2 SubmittersRCV000084365 RCV003764779
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)	SNV Germline	Chr14:73198052	Pathogenic/Likely pathogenic	Condition: not provided Mental deterioration Dementia Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA225117	rs_63750301	6 SubmittersRCV000084370 RCV000415376 RCV001387954
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)	SNV Germline	Chr14:73198061	Likely pathogenic	Condition: not provided Alzheimer disease 3 Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA225119	rs_63750779	4 SubmittersRCV000084372 RCV001261442 RCV002514496
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)	SNV Germline	Chr14:73217170	Pathogenic	Condition: not provided Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA225167	rs_63751416	3 SubmittersRCV000084402 RCV002513899
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val)	SNV Germline	Chr14:73217177	Pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter	CA225170	rs_63750929	2 SubmittersRCV000084404 RCV002513900
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)	SNV Germline	Chr14:73217221	Conflicting classifications of pathogenicity	Condition: not provided Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA225173	rs_63750227	3 SubmittersRCV000084406 RCV000811198
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)	SNV Germline	Chr14:73219177	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA225182	rs_63750083	3 SubmittersRCV000084412 RCV002288582
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)	SNV Germline	Chr17:45996557	Conflicting classifications of pathogenicity	Condition: not provided MAPT-Related Spectrum Disorders Frontotemporal dementia Progressive supranuclear palsy-parkinsonism syndrome MAPT-related disorder	Criteria Provided Conflicting Classifications	CA225409	rs_63750096	7 SubmittersRCV000084513 RCV000325065 RCV000805364 RCV003993800 RCV003935077
NM_001377265.1(MAPT):c.1999-10G>T	SNV Germline	Chr17:46010300	Pathogenic	Condition: not provided Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA225423	rs_63749974	3 SubmittersRCV000084520 RCV002513906
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)	SNV Germline	Chr17:46010402	Pathogenic/Likely pathogenic	Condition: not provided Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA225458	rs_63750568	3 SubmittersRCV000084531 RCV000989937
NM_001377265.1(MAPT):c.2091+11T>C	SNV Germline	Chr17:46010413	Pathogenic	Frontotemporal dementia Condition: not provided	No Assertion Criteria Provided	CA225461	rs_63751394	2 SubmittersRCV000015333 RCV000084533
NM_001377265.1(MAPT):c.2091+13A>G	SNV Germline	Chr17:46010415	Pathogenic	Frontotemporal dementia Condition: not provided	No Assertion Criteria Provided	CA225463	rs_63750308	2 SubmittersRCV000015318 RCV000084535
NM_001377265.1(MAPT):c.2091+16C>T	SNV Germline	Chr17:46010418	Pathogenic	Condition: not provided Memory impairment Mental deterioration Frontotemporal dementia Dementia Frontotemporal dementia MAPT-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA225465	rs_63751011	10 SubmittersRCV000084537 RCV000626753 RCV000626752 RCV000687510 RCV003415858
NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser)	SNV Germline	Chr17:46018623	Likely pathogenic	Condition: not provided Frontotemporal dementia	Criteria Provided Single Submitter	CA225477	rs_63750095	2 SubmittersRCV000084545 RCV003514309
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)	SNV Germline	Chr17:46018707	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia MAPT-related disorder	Criteria Provided Conflicting Classifications	CA225490	rs_63750869	4 SubmittersRCV000084551 RCV000692998 RCV003905079
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)	SNV Germline/somatic	Chr20:63349777	Conflicting classifications of pathogenicity	Tobacco use disorder Condition: not provided Autosomal dominant nocturnal frontal lobe epilepsy Frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA150420	rs_121912282	7 SubmittersRCV000084610 RCV000513088 RCV000654320 RCV001847655 RCV002513908
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)	SNV Germline	Chr14:73217137	Likely pathogenic	Alzheimer disease familial 3, with spastic paraparesis Alzheimer disease 3 Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA150766	rs_63750687	3 SubmittersRCV000106293 RCV000625969 RCV003764803
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)	SNV Germline	Chr22:23767459	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA163486	rs_587777574	5 SubmittersRCV000128857 RCV000192232 RCV001268565
NM_006000.3(TUBA4A):c.643C>T (p.Arg215Cys)	SNV Germline	Chr2:219251056	Pathogenic	Amyotrophic lateral sclerosis 22 with frontotemporal dementia	No Assertion Criteria Provided	CA185903	rs_730880028	1 SubmittersRCV000157037
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)	SNV Germline	Chr22:23767591	Pathogenic	Condition: not provided Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA235291	rs_730880030	4 SubmittersRCV000157069 RCV000804540 RCV001731147 RCV002463652
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)	SNV Germline	Chr1:11022559	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 Condition: not provided Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Conflicting Classifications	CA347247	rs_797044594	3 SubmittersRCV000192195 RCV000713823 RCV000795453
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)	SNV Germline	Chr5:179833777	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Condition: not provided Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Conflicting Classifications	CA203868	rs_776749939	3 SubmittersRCV000184065 RCV000481808 RCV001323701
NM_013254.4(TBK1):c.2138+2T>C	SNV Germline	Chr12:64498041	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Condition: not provided	Criteria Provided Single Submitter	CA10575728	rs_876657406	2 SubmittersRCV000185597 RCV001532209
NM_013254.4(TBK1):c.1340+1G>A	SNV Germline	Chr12:64486018	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	No Assertion Criteria Provided	CA6669037	rs_767898276	1 SubmittersRCV000185599
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)	SNV Germline	Chr12:64497987	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	No Assertion Criteria Provided	CA203889	rs_748112833	1 SubmittersRCV000185600
NM_002087.4(GRN):c.462+1G>C	SNV Germline	Chr17:44350341	Pathogenic	Frontotemporal dementia	No Assertion Criteria Provided	CA275530	rs_794729669	1 SubmittersRCV000185610
NM_002087.4(GRN):c.708+1G>A	SNV Germline	Chr17:44350801	Pathogenic/Likely pathogenic	Frontotemporal dementia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA275539	rs_63749817	7 SubmittersRCV000185615 RCV000503399 RCV000513518 RCV003765160
NM_002087.4(GRN):c.882T>G (p.Tyr294Ter)	SNV Germline	Chr17:44351409	Pathogenic	Frontotemporal dementia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Single Submitter	CA275531	rs_794729670	2 SubmittersRCV000185611 RCV001254078
NM_002087.4(GRN):c.1212C>A (p.Cys404Ter)	SNV Germline	Chr17:44352047	Pathogenic	Frontotemporal dementia	No Assertion Criteria Provided	CA275534	rs_193026789	1 SubmittersRCV000185612
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)	SNV Germline	Chr22:23767396	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Condition: not provided Amyotrophic lateral sclerosis Inborn genetic diseases CHCHD10-related disorder	Criteria Provided Conflicting Classifications	CA347297	rs_775332895	8 SubmittersRCV000192233 RCV000558062 RCV000990378 RCV001092755 RCV002221211 RCV002453685 RCV003927730
NM_007126.5(VCP):c.463C>G (p.Arg155Gly)	SNV Germline	Chr9:35065364	Pathogenic/Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA277489	rs_121909330	3 SubmittersRCV000196145 RCV000494556 RCV002229498
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)	SNV Germline	Chr9:35067922	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA279635	rs_863225291	3 SubmittersRCV000201935 RCV001271088 RCV001271081 RCV002519583
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)	SNV Germline	Chr9:35065274	Likely pathogenic	Charcot-Marie-Tooth disease type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA213386	rs_864309501	4 SubmittersRCV000202444 RCV002229147 RCV002345722
NM_007126.5(VCP):c.290G>A (p.Gly97Glu)	SNV Germline	Chr9:35067903	Pathogenic	Charcot-Marie-Tooth disease type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA213389	rs_864309502	2 SubmittersRCV000202492 RCV001853259
NM_013254.4(TBK1):c.964C>T (p.His322Tyr)	SNV Germline	Chr12:64481993	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 TBK1-related disorder	Criteria Provided Conflicting Classifications	CA6668932	rs_145905497	3 SubmittersRCV000238938 RCV000545768 RCV003930020
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)	SNV Germline	Chr5:179821034	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 3 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3600374	rs_200396166	6 SubmittersRCV000184066 RCV000652548 RCV001155398 RCV001636735 RCV002518539 RCV003387820
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)	SNV Germline	Chr2:70212810	Conflicting classifications of pathogenicity	Welander distal myopathy not specified Condition: not provided Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia TIA1-related disorder	Criteria Provided Conflicting Classifications	CA1697407	rs_116621885	7 SubmittersRCV000250393 RCV000516506 RCV000859341 RCV003989508 RCV003891965
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)	SNV Germline	Chr5:179833201	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Paget disease of bone 2, early-onset Paget disease of bone 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3600727	rs_139482113	9 SubmittersRCV000242491 RCV000535702 RCV000625252 RCV001154682 RCV001576573
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)	SNV Germline	Chr14:73211830	Conflicting classifications of pathogenicity	not specified Pick disease Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 Condition: not provided Dilated cardiomyopathy 1U Alzheimer disease 3	Criteria Provided Conflicting Classifications	CA7256904	rs_201776669	5 SubmittersRCV000245357 RCV000861613 RCV001528384 RCV000285032 RCV000342174
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)	SNV Germline	Chr5:179823038	Pathogenic	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Multiple Submitters No Conflicts	CA10588825	rs_886039782	4 SubmittersRCV000256198 RCV001062487
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	SNV Germline	Chr12:64466994	Conflicting classifications of pathogenicity	Motor neuron disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA6668820	rs_55824172	2 SubmittersRCV000492091 RCV001855019
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	SNV Germline	Chr12:64481858	Conflicting classifications of pathogenicity	Condition: not provided Motor neuron disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA238264724	rs_905184241	3 SubmittersRCV000520272 RCV000492371 RCV001855020
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)	SNV Germline	Chr12:64486007	Pathogenic; other	Motor neuron disease Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Multiple Submitters No Conflicts	CA6669034	rs_142030898	3 SubmittersRCV000492391 RCV000760460 RCV001859503
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)	SNV Germline	Chr16:50777915	Pathogenic	Familial cylindromatosis Condition: not provided Brooke-Spiegler syndrome Familial cylindromatosis Trichoepithelioma, multiple familial, 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Multiple Submitters No Conflicts	CA10590069	rs_886040872	5 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV003469207
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)	SNV Germline	Chr16:50792654	Pathogenic	Familial cylindromatosis Brooke-Spiegler syndrome Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Multiple Submitters No Conflicts	CA10590086	rs_886040888	3 SubmittersRCV000257977 RCV002466483 RCV003469208
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)	SNV Germline	Chr9:35065352	Pathogenic/Likely pathogenic	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts	CA5039453	rs_387906789	6 SubmittersRCV000333881 RCV001095425 RCV002229732
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)	SNV Germline	Chr9:35067910	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Amyotrophic lateral sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Spastic paraplegia Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications	CA10603200	rs_121909332	9 SubmittersRCV000280148 RCV000761344 RCV001095441 RCV001215048 RCV001391611 RCV002436094 RCV004556775
NM_007126.5(VCP):c.1584C>T (p.Ala528=)	SNV Germline	Chr9:35060424	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 not specified Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 VCP-related disorder	Criteria Provided Conflicting Classifications	CA5039215	rs_147623367	13 SubmittersRCV000321351 RCV001168925 RCV001081085 RCV001580089 RCV002401981 RCV001168167 RCV004535294
NM_007126.5(VCP):c.*4G>T	SNV Germline	Chr9:35057113	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 not specified Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA5039057	rs_201091341	9 SubmittersRCV000291446 RCV000301970 RCV000376145 RCV001252622 RCV001559813
NM_007126.5(VCP):c.954C>T (p.Gly318=)	SNV Germline	Chr9:35062130	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications	CA5039344	rs_377316335	2 SubmittersRCV000338106 RCV001069332
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)	SNV Germline	Chr3:87245805	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 not specified CHMP2B-related disorder	Criteria Provided Conflicting Classifications	CA2500938	rs_192188850	4 SubmittersRCV000390491 RCV000516998 RCV003401367
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)	SNV Germline	Chr5:179833189	Conflicting classifications of pathogenicity	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA3600723	rs_370970067	2 SubmittersRCV000398656 RCV002058528
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)	SNV Germline	Chr5:179824262	Conflicting classifications of pathogenicity	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA10624299	rs_878982215	2 SubmittersRCV000387568 RCV000544510
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)	SNV Germline	Chr5:179825159	Conflicting classifications of pathogenicity	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA3600618	rs_140341924	2 SubmittersRCV000293194 RCV001365629
NM_007126.5(VCP):c.1360-6T>C	SNV Germline	Chr9:35060929	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications	CA5039263	rs_370296303	2 SubmittersRCV000299794 RCV000354748 RCV003766109
NM_007126.5(VCP):c.*700C>A	SNV Germline	Chr9:35056417	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10633600	rs_537730311	2 SubmittersRCV000279189 RCV000373728 RCV003430970
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=)	SNV Germline	Chr17:46018715	Conflicting classifications of pathogenicity	MAPT-Related Spectrum Disorders Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA8618231	rs_148501218	2 SubmittersRCV000284697 RCV001421102
NM_000021.4(PSEN1):c.654A>G (p.Pro218=)	SNV Germline	Chr14:73192749	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U Alzheimer disease 3 Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Conflicting Classifications	CA7256797	rs_115760359	2 SubmittersRCV000277519 RCV000325529 RCV000954050
NM_002087.4(GRN):c.393C>T (p.Phe131=)	SNV Germline	Chr17:44350271	Conflicting classifications of pathogenicity	Frontotemporal dementia Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Conflicting Classifications	CA8601872	rs_149180605	2 SubmittersRCV000349606 RCV002056604
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)	SNV Germline	Chr14:73211815	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U Alzheimer disease 3 Condition: not provided Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Conflicting Classifications	CA7256899	rs_116640707	4 SubmittersRCV000329570 RCV000377075 RCV000874610 RCV001088486
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr)	SNV Germline	Chr17:45991484	Conflicting classifications of pathogenicity	MAPT-Related Spectrum Disorders Frontotemporal dementia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8617962	rs_143624519	5 SubmittersRCV000356485 RCV000532567 RCV001531268 RCV004526663
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)	SNV Germline	Chr16:50749757	Conflicting classifications of pathogenicity	Brooke-Spiegler syndrome Familial multiple trichoepitheliomata Familial cylindromatosis Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Conflicting Classifications	CA8052119	rs_764097337	3 SubmittersRCV000311859 RCV000370163 RCV000404707 RCV002264928 RCV003469254
NM_001377265.1(MAPT):c.220+2538C>G	SNV Germline	Chr17:45974483	Conflicting classifications of pathogenicity	MAPT-Related Spectrum Disorders Condition: not provided Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA8617603	rs_368845248	4 SubmittersRCV000260870 RCV001579853 RCV002522982
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)	SNV Germline	Chr5:179833033	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA16604940	rs_769297000	2 SubmittersRCV000444659 RCV001055830
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=)	SNV Germline	Chr17:46024033	Conflicting classifications of pathogenicity	Condition: not provided MAPT-Related Spectrum Disorders Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA8618258	rs_377720312	3 SubmittersRCV000488020 RCV001122795 RCV002063827
NM_007126.5(VCP):c.383G>C (p.Gly128Ala)	SNV Germline	Chr9:35066737	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications	CA373291969	rs_1554668979	2 SubmittersRCV000498690 RCV003766796
NM_007375.4(TARDBP):c.87C>T (p.Ser29=)	SNV Germline	Chr1:11013814	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Conflicting Classifications	CA586308	rs_201693535	4 SubmittersRCV000513594 RCV002448554 RCV002524956
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)	SNV Germline	Chr5:179833613	Conflicting classifications of pathogenicity	not specified Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Paget disease of bone 3	Criteria Provided Conflicting Classifications	CA3600778	rs_141436407	5 SubmittersRCV000518450 RCV000625254 RCV000872567 RCV001157195
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)	SNV Germline	Chr5:179833725	Conflicting classifications of pathogenicity	not specified Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 3 Condition: not provided SQSTM1-related disorder	Criteria Provided Conflicting Classifications	CA3600800	rs_143956614	6 SubmittersRCV000518391 RCV000873769 RCV001157196 RCV001579517 RCV004541623
NM_007126.5(VCP):c.278G>A (p.Arg93His)	SNV Germline	Chr9:35067915	Likely pathogenic	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts	CA5039527	rs_779959657	2 SubmittersRCV000520021 RCV002231635
NM_007126.5(VCP):c.426G>A (p.Ala142=)	SNV Germline	Chr9:35066694	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5039486	rs_577812326	3 SubmittersRCV000525916 RCV000598290 RCV002330872
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)	SNV Germline	Chr9:35061172	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications	CA5039291	rs_148329626	7 SubmittersRCV000534353 RCV001579523 RCV002350262 RCV004537963
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)	SNV Germline	Chr22:23767421	Conflicting classifications of pathogenicity	Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10145294	rs_542541060	2 SubmittersRCV000558937 RCV002530220
NM_007126.5(VCP):c.1896C>A (p.Ala632=)	SNV Germline	Chr9:35059601	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications	CA5039169	rs_141275388	4 SubmittersRCV000598527 RCV001403231 RCV002413682 RCV004530715
NM_013254.4(TBK1):c.1792A>G (p.Met598Val)	SNV Germline	Chr12:64496980	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA238276382	rs_899858451	2 SubmittersRCV000614658 RCV000687975
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=)	SNV Germline	Chr5:179823928	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 3	Criteria Provided Conflicting Classifications	CA3600490	rs_11548640	2 SubmittersRCV000652545 RCV001157083
NM_007126.5(VCP):c.478G>C (p.Ala160Pro)	SNV Germline	Chr9:35065349	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications	CA373289512	rs_1554668805	4 SubmittersRCV000639654 RCV000993545 RCV001535609
NM_001377265.1(MAPT):c.1802G>A (p.Arg601His)	SNV Germline	Chr17:45996468	Conflicting classifications of pathogenicity	Frontotemporal dementia MAPT-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA8618037	rs_115492908	2 SubmittersRCV000635209 RCV001128500
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)	SNV Germline	Chr22:23766263	Conflicting classifications of pathogenicity	Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10145271	rs_374353973	2 SubmittersRCV000650707 RCV002440358
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=)	SNV Germline	Chr17:45996550	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_145897970	2 SubmittersRCV000658785 RCV002060787
NM_007126.5(VCP):c.1194+3G>A	SNV Germline	Chr9:35061574	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Condition: not provided Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications		rs_183223259	6 SubmittersRCV000685579 RCV000733640 RCV002334250 RCV004535704
NM_007126.5(VCP):c.374G>A (p.Gly125Asp)	SNV Germline	Chr9:35066746	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_1563980403	2 SubmittersRCV001809749 RCV002233201
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)	SNV Germline	Chr12:64497257	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 TBK1-related disorder	Criteria Provided Conflicting Classifications		rs_144370662	2 SubmittersRCV000704095 RCV003980319
NM_000021.4(PSEN1):c.869-2A>T	SNV Germline	Chr14:73206384	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter		rs_1566650594	1 SubmittersRCV000703026
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)	SNV Germline	Chr22:23766261	Conflicting classifications of pathogenicity	Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1252496774	2 SubmittersRCV000688111 RCV002440432
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)	SNV Germline	Chr22:23766225	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Condition: not provided	Criteria Provided Conflicting Classifications		rs_9153	2 SubmittersRCV000685394 RCV001268858
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)	SNV Germline	Chr1:11020554	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Inborn genetic diseases TARDBP-related disorder	Criteria Provided Conflicting Classifications		rs_149517613	6 SubmittersRCV000713824 RCV001101666 RCV001467552 RCV003303206 RCV003965466
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)	SNV Germline	Chr9:132326926	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_764920626	4 SubmittersRCV000713215 RCV001165734 RCV001169728 RCV001861986 RCV001849076
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)	SNV Germline	Chr14:73192730	Pathogenic/Likely pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555355250	2 SubmittersRCV000712873 RCV001055042
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)	SNV Germline	Chr9:35067916	Pathogenic	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554669087	4 SubmittersRCV000728008 RCV002233733
NM_007126.5(VCP):c.1863C>T (p.Gly621=)	SNV Germline	Chr9:35059634	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376510669	4 SubmittersRCV000728329 RCV001462593 RCV002406659
NM_007126.5(VCP):c.258A>G (p.Arg86=)	SNV Germline	Chr9:35067935	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1563980979	3 SubmittersRCV000729518 RCV001408701 RCV002424743
NM_007126.5(VCP):c.1242G>A (p.Leu414=)	SNV Germline	Chr9:35061132	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_375262833	4 SubmittersRCV000729642 RCV001221457 RCV002386295
NM_007126.5(VCP):c.1488T>C (p.Pro496=)	SNV Germline	Chr9:35060520	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1563976866	3 SubmittersRCV000730972 RCV001402342 RCV002388365
NM_007126.5(VCP):c.284G>C (p.Arg95Pro)	SNV Germline	Chr9:35067909	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications		rs_758169026	2 SubmittersRCV000731593 RCV001046936
NM_007126.5(VCP):c.340A>G (p.Ile114Val)	SNV Germline	Chr9:35066780	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications		rs_549915384	4 SubmittersRCV000733637 RCV000801185 RCV002332532 RCV004535869
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala)	SNV Germline	Chr14:73173591	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1566630811	1 SubmittersRCV000736265
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr)	SNV Unknown	Chr14:73173636	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1566630884	1 SubmittersRCV000736260
NM_000021.4(PSEN1):c.869-1G>A	SNV Germline	Chr14:73206385	Pathogenic/Likely pathogenic	Alzheimer disease Alzheimer disease 3 Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts		rs_63750219	4 SubmittersRCV000736261 RCV002470967 RCV002533770
NM_002087.4(GRN):c.1179G>A (p.Glu393=)	SNV Germline	Chr17:44351795	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1567887777	1 SubmittersRCV000736255
NM_002087.4(GRN):c.1446C>A (p.Cys482Ter)	SNV Unknown	Chr17:44352373	Pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1567888461	1 SubmittersRCV000736252
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg)	SNV Germline	Chr17:46018672	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1568339821	1 SubmittersRCV000736258
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)	SNV Germline	Chr12:64484379	Pathogenic	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Multiple Submitters No Conflicts		rs_1328949478	2 SubmittersRCV000760459 RCV002536579
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)	SNV Germline	Chr14:73173583	Likely pathogenic	Alzheimer disease 3 Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts		rs_1566630791	3 SubmittersRCV000782176 RCV001196175
NM_031157.4(HNRNPA1):c.1018C>G (p.Pro340Ala)	SNV Germline	Chr12:54283922	Likely pathogenic	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	Criteria Provided Single Submitter		rs_1592173638	1 SubmittersRCV000789008
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)	SNV Germline	Chr17:45983468	Conflicting classifications of pathogenicity	Frontotemporal dementia Pick disease Progressive supranuclear ophthalmoplegia Multiple system atrophy Condition: not provided MAPT-related disorder	Criteria Provided Conflicting Classifications		rs_150983093	5 SubmittersRCV000791003 RCV000791004 RCV000791006 RCV000791005 RCV001354954 RCV003947981
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)	SNV Germline	Chr2:74370248	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Frontotemporal dementia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_150368544	4 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)	SNV Germline	Chr5:179833612	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter		rs_1185406298	1 SubmittersRCV000795535
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)	SNV Germline	Chr14:73173574	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter		rs_63750730	1 SubmittersRCV000816670
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)	SNV Germline	Chr14:73192721	Likely pathogenic	Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia	Criteria Provided Single Submitter		rs_63750053	1 SubmittersRCV000821428
NM_001377265.1(MAPT):c.220+2503C>T	SNV Germline	Chr17:45974448	Conflicting classifications of pathogenicity	Frontotemporal dementia MAPT-Related Spectrum Disorders not specified	Criteria Provided Conflicting Classifications		rs_138293088	3 SubmittersRCV000803671 RCV001123792 RCV004526776
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His)	SNV Germline	Chr17:46018628	Pathogenic/Likely pathogenic	Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts		rs_1598408073	2 SubmittersRCV000823456
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)	SNV Germline	Chr22:23767439	Conflicting classifications of pathogenicity	Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Inborn genetic diseases Condition: not provided CHCHD10-related disorder	Criteria Provided Conflicting Classifications		rs_374211312	4 SubmittersRCV000812293 RCV002422795 RCV003145171 RCV003411792
NM_013254.4(TBK1):c.701+1G>A	SNV Germline	Chr12:64474391	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Amyotrophic lateral sclerosis TBK1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1592362719	3 SubmittersRCV000797764 RCV001843550 RCV003411753
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)	SNV Germline	Chr3:87240728	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Condition: not provided CHMP2B-related disorder	Criteria Provided Conflicting Classifications		rs_138886714	4 SubmittersRCV001148368 RCV001759655 RCV003392657
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)	SNV Germline	Chr5:179823047	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_537142935	2 SubmittersRCV000878251 RCV003141887
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)	SNV Germline	Chr5:179823884	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Condition: not provided SQSTM1-related disorder	Criteria Provided Conflicting Classifications		rs_139372286	3 SubmittersRCV000877000 RCV001655632 RCV004530863
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)	SNV Germline	Chr5:179824069	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 3 Condition: not provided SQSTM1-related disorder	Criteria Provided Conflicting Classifications		rs_199931327	4 SubmittersRCV000876784 RCV001151637 RCV003432850 RCV004541755
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)	SNV Germline	Chr5:179824197	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_567433223	5 SubmittersRCV000877928 RCV001724184
NM_000021.4(PSEN1):c.234C>T (p.Gly78=)	SNV Germline	Chr14:73170943	Conflicting classifications of pathogenicity	Condition: not provided Alzheimer disease 3 Dilated cardiomyopathy 1U Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143782428	5 SubmittersRCV000878970 RCV001120367 RCV001120366 RCV002539275 RCV003259007
NM_007126.5(VCP):c.732C>T (p.Tyr244=)	SNV Germline	Chr9:35063057	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications		rs_201610567	2 SubmittersRCV000946065 RCV001395321
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)	SNV Germline	Chr14:73198053	Conflicting classifications of pathogenicity	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Dilated cardiomyopathy 1U Alzheimer disease 3	Criteria Provided Conflicting Classifications		rs_150301281	2 SubmittersRCV000896851 RCV001115471 RCV001115472
NM_003900.5(SQSTM1):c.205+7G>C	SNV Germline	Chr5:179821148	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Condition: not provided	Criteria Provided Conflicting Classifications		rs_912066047	3 SubmittersRCV000951194 RCV003141903
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)	SNV Unknown	Chr1:11022538	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1570725499	1 SubmittersRCV000986235
NM_013254.4(TBK1):c.87G>A (p.Lys29=)	SNV Germline	Chr12:64455957	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter		rs_1592350887	1 SubmittersRCV000995895
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)	SNV Germline	Chr12:64466969	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications		rs_1027249002	2 SubmittersRCV000995896
NM_013254.4(TBK1):c.992+1G>A	SNV Germline	Chr12:64482022	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Amyotrophic lateral sclerosis	Criteria Provided Multiple Submitters No Conflicts		rs_1341055534	4 SubmittersRCV000995897 RCV001196463 RCV003333118
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)	SNV Germline	Chr14:73192712	Pathogenic	Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts		rs_63750082	3 SubmittersRCV000995615 RCV003769343
NM_001377265.1(MAPT):c.2266C>A (p.Pro756Thr)	SNV Germline	Chr17:46018710	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1598408336	1 SubmittersRCV000995805
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)	SNV Germline	Chr5:179836481	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter		rs_1247551175	1 SubmittersRCV001060204
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)	SNV Germline	Chr14:73173702	Conflicting classifications of pathogenicity	Pick disease Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1897961716	2 SubmittersRCV001067591 RCV003222216
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)	SNV Germline	Chr14:73219139	Pathogenic/Likely pathogenic	Acne inversa, familial, 3 Alzheimer disease 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts		rs_63751316	2 SubmittersRCV001049005 RCV002282436
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)	SNV Germline	Chr5:150054386	Conflicting classifications of pathogenicity	Frontotemporal dementia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1757092904	2 SubmittersRCV001090101 RCV003558660
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)	SNV Germline	Chr15:61856408	Conflicting classifications of pathogenicity	Frontotemporal dementia Primary degenerative dementia of the Alzheimer type, presenile onset Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_138846118	5 SubmittersRCV001090104 RCV002223989 RCV003490062
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter)	SNV Germline	Chr19:1058155	Likely pathogenic; risk factor	Frontotemporal dementia Primary degenerative dementia of the Alzheimer type, presenile onset Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_770510230	2 SubmittersRCV001090095 RCV002223988
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)	SNV Germline	Chr3:87245793	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Criteria Provided Conflicting Classifications		rs_200792883	3 SubmittersRCV001092352 RCV001241565
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)	SNV Germline	Chr1:11022302	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_1643653768	2 SubmittersRCV001095402 RCV002555973
NM_007126.5(VCP):c.572G>C (p.Arg191Pro)	SNV Germline	Chr9:35065255	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts		rs_121909334	2 SubmittersRCV001095426 RCV003769035
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)	SNV Germline	Chr12:57582614	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1882640177	2 SubmittersRCV001095391 RCV002555972
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)	SNV Germline	Chr12:64481951	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Multiple Submitters No Conflicts		rs_1284582102	2 SubmittersRCV001095423
NM_007375.4(TARDBP):c.36C>T (p.Asn12=)	SNV Germline	Chr1:11013763	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_565091566	3 SubmittersRCV001099682 RCV002067757 RCV002348556
NM_007375.4(TARDBP):c.57A>G (p.Pro19=)	SNV Germline	Chr1:11013784	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_532319219	2 SubmittersRCV001099683 RCV002554944
NM_007375.4(TARDBP):c.963C>T (p.Ala321=)	SNV Germline	Chr1:11022372	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_547979470	2 SubmittersRCV001096236 RCV002557978
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys)	SNV Germline	Chr17:45962350	Conflicting classifications of pathogenicity	MAPT-Related Spectrum Disorders Frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_766166210	2 SubmittersRCV001123790 RCV001856632
NM_001377265.1(MAPT):c.1801C>T (p.Arg601Cys)	SNV Germline	Chr17:45996467	Conflicting classifications of pathogenicity	MAPT-Related Spectrum Disorders Frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_138984221	2 SubmittersRCV001128499 RCV001856676
NM_001377265.1(MAPT):c.2319C>T (p.Asn773=)	SNV Germline	Chr17:46023988	Conflicting classifications of pathogenicity	MAPT-Related Spectrum Disorders Frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_746312281	2 SubmittersRCV001122794 RCV003629149
NM_001377265.1(MAPT):c.2173+9G>C	SNV Germline	Chr17:46014333	Conflicting classifications of pathogenicity	MAPT-Related Spectrum Disorders Frontotemporal dementia MAPT-related disorder	Criteria Provided Conflicting Classifications		rs_979650971	3 SubmittersRCV001122793 RCV002070007 RCV003918711
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)	SNV Germline	Chr3:87240720	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 CHMP2B-related disorder	Criteria Provided Conflicting Classifications		rs_200322526	4 SubmittersRCV001148367 RCV003953530
NM_014043.4(CHMP2B):c.531+8C>T	SNV Germline	Chr3:87253518	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Criteria Provided Conflicting Classifications		rs_374796686	2 SubmittersRCV001149929
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)	SNV Germline	Chr5:179824018	Conflicting classifications of pathogenicity	Paget disease of bone 3 Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Conflicting Classifications		rs_775988188	2 SubmittersRCV001151636 RCV001343979
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)	SNV Germline	Chr5:179824265	Conflicting classifications of pathogenicity	Paget disease of bone 3 Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Conflicting Classifications		rs_771036207	2 SubmittersRCV001151638 RCV002070838
NM_007126.5(VCP):c.384T>C (p.Gly128=)	SNV Germline	Chr9:35066736	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia VCP-related disorder	Criteria Provided Conflicting Classifications		rs_367703031	3 SubmittersRCV001168238 RCV001168239 RCV002067829 RCV004545096
NM_007126.5(VCP):c.*1040T>C	SNV Germline	Chr9:35056077	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_188935092	2 SubmittersRCV001165910 RCV001165911 RCV002264211
NM_007126.5(VCP):c.446-4G>A	SNV Germline	Chr9:35065385	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_370700002	2 SubmittersRCV001168237 RCV001168236 RCV001873558
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)	SNV Germline	Chr1:11022371	Likely pathogenic	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Single Submitter		rs_1304706298	1 SubmittersRCV001207766
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)	SNV Germline	Chr1:11022541	Likely pathogenic	TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Single Submitter		rs_1557660662	1 SubmittersRCV001208497
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)	SNV Germline	Chr14:73171017	Likely pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter		rs_1897876766	1 SubmittersRCV001230382
NM_007126.5(VCP):c.294T>A (p.Asp98Glu)	SNV Germline	Chr9:35067899	Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	Criteria Provided Single Submitter		rs_1828864269	1 SubmittersRCV001253196
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)	SNV Germline	Chr14:73170972	Pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1897874329	1 SubmittersRCV001261949
NM_007126.5(VCP):c.1184A>G (p.Asp395Gly)	SNV Germline	Chr9:35061587	Pathogenic	FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES	No Assertion Criteria Provided		rs_1828721782	1 SubmittersRCV001271084
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)	SNV Germline	Chr16:2455540	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 Condition: not provided	Criteria Provided Single Submitter		rs_778264897	2 SubmittersRCV001281085 RCV003426024
NM_001761.3(CCNF):c.585T>G (p.Ser195Arg)	SNV Germline	Chr16:2438114	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	No Assertion Criteria Provided		rs_1371569927	1 SubmittersRCV001281086
NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr)	SNV Germline	Chr16:2448935	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	No Assertion Criteria Provided		rs_954539468	1 SubmittersRCV001281087
NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys)	SNV Germline	Chr16:2455549	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	No Assertion Criteria Provided		rs_771621178	1 SubmittersRCV001281088
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)	SNV Germline	Chr2:70212795	Conflicting classifications of pathogenicity	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA Welander distal myopathy Condition: not provided	Criteria Provided Conflicting Classifications		rs_757332023	3 SubmittersRCV001281089 RCV001365839 RCV003132375
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)	SNV Germline	Chr16:50791604	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Single Submitter		rs_1971438573	2 SubmittersRCV001281091
NM_003900.5(SQSTM1):c.302-4G>A	SNV Germline	Chr5:179823854	Conflicting classifications of pathogenicity	Condition: not provided Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Conflicting Classifications		rs_1757883398	2 SubmittersRCV001288015 RCV002069539
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)	SNV Germline	Chr14:73192840	Pathogenic/Likely pathogenic	Condition: not provided Pick disease Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 PSEN1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1362575880	3 SubmittersRCV001289155 RCV001378264 RCV003918832
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)	SNV Germline	Chr14:73219194	Conflicting classifications of pathogenicity	Condition: not provided Pick disease Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_764971634	3 SubmittersRCV001289154 RCV001871727
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter)	SNV Germline	Chr12:64485995	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	No Assertion Criteria Provided		rs_769588220	1 SubmittersRCV001291944
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)	SNV Germline	Chr5:179820937	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Condition: not provided	Criteria Provided Conflicting Classifications		rs_1302810798	3 SubmittersRCV001319264 RCV001563679 RCV002473267
NM_000021.4(PSEN1):c.338+7A>G	SNV Germline	Chr14:73171054	Likely pathogenic	Frontotemporal dementia Alzheimer disease 3 Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter		rs_1897878139	1 SubmittersRCV001326693
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)	SNV Germline	Chr12:64484463	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Multiple Submitters No Conflicts		rs_765106259	2 SubmittersRCV001328679
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)	SNV Germline	Chr3:87240752	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 CHMP2B-related disorder	Criteria Provided Conflicting Classifications		rs_139894940	3 SubmittersRCV001354452 RCV002070222 RCV003953681
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)	SNV Germline	Chr5:179822996	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter		rs_1425863340	1 SubmittersRCV001390972
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)	SNV Germline	Chr5:179836480	Pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 SQSTM1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_771966860	2 SubmittersRCV001383720 RCV004528496
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter)	SNV Germline	Chr12:64497234	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter		rs_2136088420	1 SubmittersRCV001388492
NM_007126.5(VCP):c.446-5C>T	SNV Germline	Chr9:35065386	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_541980846	2 SubmittersRCV001394423 RCV002329415
NM_213720.3(CHCHD10):c.42-5C>T	SNV Germline	Chr22:23767598	Conflicting classifications of pathogenicity	Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_868345557	2 SubmittersRCV001395837 RCV002329417
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)	SNV Germline	Chr5:179833185	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Condition: not provided	Criteria Provided Conflicting Classifications		rs_143746604	2 SubmittersRCV001422431 RCV003317495
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)	SNV Germline	Chr5:179836543	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications		rs_757212984	3 SubmittersRCV001508538 RCV001882557
NM_018965.4(TREM2):c.594G>A (p.Trp198Ter)	SNV Germline	Chr6:41158955	Pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1765488318	1 SubmittersRCV001810084
NM_002137.4(HNRNPA2B1):c.965G>A (p.Gly322Glu)	SNV Unknown	Chr7:26192577	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter		rs_1783018501	1 SubmittersRCV001810078
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)	SNV Germline	Chr14:73198043	Conflicting classifications of pathogenicity	Alzheimer disease 3 Condition: not provided Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 Pick disease	Criteria Provided Conflicting Classifications		rs_199723282	3 SubmittersRCV001810075 RCV002473293 RCV002568920
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)	SNV Germline	Chr14:73219164	Conflicting classifications of pathogenicity	Alzheimer disease 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3	Criteria Provided Conflicting Classifications		rs_1398951357	2 SubmittersRCV001810077 RCV001873794
NM_007126.5(VCP):c.18-4C>G	SNV Germline	Chr9:35068366	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_1563981227	2 SubmittersRCV001663535 RCV002538570
NM_013254.4(TBK1):c.1207C>T (p.His403Tyr)	SNV Germline	Chr12:64485472	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications		rs_749709445	2 SubmittersRCV001755326 RCV002540614
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)	SNV Germline	Chr5:179833671	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Condition: not provided	Criteria Provided Conflicting Classifications		rs_765610848	2 SubmittersRCV001868769 RCV003238467
NM_007126.5(VCP):c.1460G>A (p.Arg487His)	SNV Germline	Chr9:35060823	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_767379602	4 SubmittersRCV001816505 RCV003772278
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)	SNV Germline	Chr12:64464454	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Multiple Submitters No Conflicts		rs_757203783	2 SubmittersRCV001825077
NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg)	SNV Unknown	Chr10:13110343	Likely pathogenic	Frontotemporal dementia	No Assertion Criteria Provided		rs_1452457006	1 SubmittersRCV001848606
NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)	SNV Unknown	Chr15:78635465	Likely pathogenic	Frontotemporal dementia	No Assertion Criteria Provided		rs_2141385401	1 SubmittersRCV001848608
NM_000750.5(CHRNB4):c.658G>A (p.Val220Met)	SNV Unknown	Chr15:78629647	Likely pathogenic	Frontotemporal dementia	No Assertion Criteria Provided		rs_774714066	1 SubmittersRCV001848609
NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)	SNV Unknown	Chr16:2437155	Likely pathogenic	Frontotemporal dementia	No Assertion Criteria Provided		rs_376056912	1 SubmittersRCV001848611
NM_013254.4(TBK1):c.1189+1G>T	SNV Germline	Chr12:64484500	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter		rs_2136078402	1 SubmittersRCV002039154
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)	SNV Germline	Chr14:73211942	Pathogenic	Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter		rs_1555357544	1 SubmittersRCV002014803
NM_007126.5(VCP):c.273C>A (p.Asn91Lys)	SNV Germline	Chr9:35067920	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter		rs_1563980966	1 SubmittersRCV002015462
NM_013254.4(TBK1):c.1189+1G>A	SNV Germline	Chr12:64484500	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter		rs_2136078402	1 SubmittersRCV002019738
NM_213720.3(CHCHD10):c.42-5C>G	SNV Germline	Chr22:23767598	Conflicting classifications of pathogenicity	Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance CHCHD10-related disorder	Criteria Provided Conflicting Classifications		rs_868345557	2 SubmittersRCV001987738 RCV003395311
NM_003900.5(SQSTM1):c.970-2A>G	SNV Germline	Chr5:179833585	Likely pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter		rs_2113512370	1 SubmittersRCV001977620
NM_007126.5(VCP):c.472A>G (p.Met158Val)	SNV Germline	Chr9:35065355	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Single Submitter		rs_1554668813	1 SubmittersRCV001953725
NM_007126.5(VCP):c.469G>A (p.Gly157Arg)	SNV Germline	Chr9:35065358	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Single Submitter		rs_1554668814	1 SubmittersRCV001972632
NM_007126.5(VCP):c.463C>A (p.Arg155Ser)	SNV Germline	Chr9:35065364	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Single Submitter		rs_121909330	1 SubmittersRCV001949225
NM_002137.4(HNRNPA2B1):c.893C>T (p.Pro298Leu)	SNV Germline	Chr7:26193322	Likely pathogenic	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	Criteria Provided Single Submitter		rs_2128109836	1 SubmittersRCV002010797
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)	SNV Germline	Chr5:179833782	Pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter		rs_1391182750	1 SubmittersRCV001949681
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)	SNV Germline	Chr17:45962417	Conflicting classifications of pathogenicity	Frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_769331823	2 SubmittersRCV001921514 RCV002560453
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln)	SNV Germline	Chr12:64484380	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter		rs_758357594	1 SubmittersRCV002000195
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)	SNV Germline	Chr14:73192845	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter		rs_1898781850	1 SubmittersRCV002037964
NM_000021.4(PSEN1):c.640C>A (p.His214Asn)	SNV Germline	Chr14:73192735	Pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Single Submitter		rs_63751003	1 SubmittersRCV001900646
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)	SNV Germline	Chr12:64486012	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter		rs_2136079548	1 SubmittersRCV001901321
NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys)	SNV Germline	Chr14:73198099	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter		rs_2140105309	1 SubmittersRCV001949489
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)	SNV Germline	Chr5:179836501	Pathogenic/Likely pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Myopathy, distal, with rimmed vacuoles	Criteria Provided Multiple Submitters No Conflicts		rs_143511494	2 SubmittersRCV001972785 RCV003147715 RCV003333197
NM_007126.5(VCP):c.284G>A (p.Arg95His)	SNV Germline	Chr9:35067909	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter		rs_758169026	1 SubmittersRCV002018336
NM_003900.5(SQSTM1):c.301+1G>T	SNV Germline	Chr5:179823054	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter		rs_2113485289	1 SubmittersRCV001908192
NM_014043.4(CHMP2B):c.321+3A>G	SNV Germline	Chr3:87245911	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 CHMP2B-related disorder	Criteria Provided Conflicting Classifications		rs_989392144	2 SubmittersRCV001931937 RCV003892183
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser)	SNV Germline	Chr12:64460226	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Condition: not provided	Criteria Provided Conflicting Classifications		rs_748061846	2 SubmittersRCV001948003 RCV003992581
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)	SNV Germline	Chr14:73192840	Likely pathogenic	Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter		rs_1362575880	1 SubmittersRCV001980594
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)	SNV Germline	Chr14:73219262	Conflicting classifications of pathogenicity	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia Pick disease Dilated cardiomyopathy 1U Acne inversa, familial, 3 PSEN1-related disorder	Criteria Provided Conflicting Classifications		rs_201496204	3 SubmittersRCV002043451 RCV002486747 RCV003913489
NM_007126.5(VCP):c.2161-4A>G	SNV Germline	Chr9:35057534	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1260699314	2 SubmittersRCV002092372 RCV002427525
NM_013254.4(TBK1):c.813-7A>C	SNV Germline	Chr12:64481835	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	Criteria Provided Conflicting Classifications		rs_376075252	2 SubmittersRCV002091831 RCV003224616
NM_013254.4(TBK1):c.2139-7G>A	SNV Germline	Chr12:64501323	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications		rs_534404556	2 SubmittersRCV002153421
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)	SNV Germline	Chr14:73170854	Conflicting classifications of pathogenicity	Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200373970	2 SubmittersRCV002088756 RCV003007081
NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter)	SNV Germline	Chr12:64497666	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter		rs_2136088954	1 SubmittersRCV002272614
NM_013254.4(TBK1):c.352G>A (p.Asp118Asn)	SNV Germline	Chr12:64464457	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV002283871
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)	SNV Germline	Chr12:64497044	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV002471876
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)	SNV Germline	Chr5:179836477	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV002474117 RCV002571508 RCV004064255
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)	SNV Germline	Chr12:64455874	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV003058387
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)	SNV Germline	Chr12:64490094	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV003062524
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)	SNV Germline	Chr14:73173654	Likely pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter			1 SubmittersRCV003062642
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)	SNV Germline	Chr14:73173703	Pathogenic	Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Single Submitter			1 SubmittersRCV003062643
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)	SNV Germline	Chr9:35065361	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Single Submitter			1 SubmittersRCV003037322
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)	SNV Germline	Chr1:11022538	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia TARDBP-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003089575 RCV003420327
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)	SNV Germline	Chr5:179833178	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter			1 SubmittersRCV003090306
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)	SNV Germline	Chr5:179824007	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications			2 SubmittersRCV003328713 RCV003090091
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)	SNV Germline	Chr1:11022532	Likely pathogenic	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Single Submitter			1 SubmittersRCV002664150
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)	SNV Germline	Chr14:73192861	Pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Single Submitter			1 SubmittersRCV003112298
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)	SNV Germline	Chr14:73198106	Pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Single Submitter			1 SubmittersRCV002601742
NM_003900.5(SQSTM1):c.205+2T>C	SNV Germline	Chr5:179821143	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter			1 SubmittersRCV002780902
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)	SNV Germline	Chr14:73170961	Likely pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter			1 SubmittersRCV002824042
NM_013254.4(TBK1):c.1443-1G>T	SNV Germline	Chr12:64490040	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV002834874
NM_013254.4(TBK1):c.1341-1G>C	SNV Germline	Chr12:64488486	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV002863152
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)	SNV Germline	Chr12:64481973	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV002863800
NM_013254.4(TBK1):c.1644-2A>T	SNV Germline	Chr12:64495697	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV002847242
NM_007126.5(VCP):c.382G>A (p.Gly128Ser)	SNV Germline	Chr9:35066738	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter			1 SubmittersRCV002876342
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)	SNV Germline	Chr14:73170983	Pathogenic	Pick disease Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002876347 RCV003222446
NM_001377265.1(MAPT):c.2091+16C>G	SNV Germline	Chr17:46010418	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter			1 SubmittersRCV002914169
NM_013254.4(TBK1):c.701+2T>G	SNV Germline	Chr12:64474392	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV002927416
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)	SNV Germline	Chr5:179833097	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter			1 SubmittersRCV003002562
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)	SNV Germline	Chr12:64485982	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV003019974
NM_001377265.1(MAPT):c.2266C>T (p.Pro756Ser)	SNV Unknown	Chr17:46018710	Pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter			1 SubmittersRCV003315208
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)	SNV Germline	Chr14:73170804	Conflicting classifications of pathogenicity	not specified Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV003324115 RCV003777345
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)	SNV Germline	Chr9:35063023	Likely pathogenic	Childhood Onset VCP-related Neurodevelopmental Disorder Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Charcot-Marie-Tooth disease type 2Y	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003333707 RCV003883215
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)	SNV Germline	Chr14:73198040	Conflicting classifications of pathogenicity	Condition: not provided Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia	Criteria Provided Conflicting Classifications			2 SubmittersRCV003482814 RCV003779232
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)	SNV Germline	Chr12:64480058	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV003590404
NM_013254.4(TBK1):c.1863-1G>A	SNV Germline	Chr12:64497162	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV003754704
NM_013254.4(TBK1):c.1960-2A>T	SNV Germline	Chr12:64497646	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV003754685
NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)	SNV Germline	Chr12:64460202	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV003753864
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)	SNV Germline	Chr14:73219191	Conflicting classifications of pathogenicity	Pick disease Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3 Alzheimer disease 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV003785387 RCV003994584
NM_007126.5(VCP):c.1696-3C>T	SNV Germline	Chr9:35059804	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 VCP-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003782425 RCV004539134
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)	SNV Germline	Chr14:73170959	Pathogenic	Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Single Submitter			1 SubmittersRCV003783616
NM_000021.4(PSEN1):c.869-2A>G	SNV Germline	Chr14:73206384	Pathogenic	Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Single Submitter			1 SubmittersRCV003783617
NM_003900.5(SQSTM1):c.206-2A>G	SNV Germline	Chr5:179822956	Likely pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter			1 SubmittersRCV003792197
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)	SNV Germline	Chr5:179833728	Pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter			1 SubmittersRCV003800510
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)	SNV Germline	Chr5:179833590	Pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter			1 SubmittersRCV003804675
NM_007126.5(VCP):c.283C>A (p.Arg95Ser)	SNV Germline	Chr9:35067910	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter			1 SubmittersRCV003813702

NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)

SNV
Germline

Chr3:87253798

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Condition: not provided

No Assertion Criteria Provided

CA224980

rs_63751126

3 SubmittersRCV000020696 RCV000084279

NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr3:87253472

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Condition: not provided

No Assertion Criteria Provided

CA224975

rs_63750355

3 SubmittersRCV000001722 RCV000084276

NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)

SNV
Germline

Chr1:11022418

Pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340373

rs_80356730

6 SubmittersRCV000005539 RCV000693006 RCV001090806

NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)

SNV
Germline

Chr1:11022301

Pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA340375

rs_4884357

5 SubmittersRCV000005543 RCV000713825 RCV001851670

NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)

SNV
Germline

Chr1:11022451

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA340379

rs_80356733

6 SubmittersRCV000005545 RCV000516886 RCV001851671

NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)

SNV
Germline

Chr1:11022352

Pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340381

rs_80356726

5 SubmittersRCV000005547 RCV001384596 RCV004546411

NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu)

SNV
Germline

Chr1:11022196

Pathogenic

FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED

No Assertion Criteria Provided

CA117346

rs_267607102

1 SubmittersRCV000005549

NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)

SNV
Germline

Chr16:50796443

Pathogenic

Brooke-Spiegler syndrome
Familial multiple trichoepitheliomata
Familial cylindromatosis
Trichoepithelioma, multiple familial, 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Familial cylindromatosis
Brooke-Spiegler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA214928

rs_121908390

3 SubmittersRCV000005575 RCV000005574 RCV000005573 RCV002496269

NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)

SNV
Germline

Chr5:179836445

Conflicting classifications of pathogenicity

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Condition: not provided
Spastic paraplegia-Paget disease of bone syndrome
Amyotrophic lateral sclerosis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA203866

rs_104893941

14 SubmittersRCV000008576 RCV000184063 RCV000477939 RCV000490214 RCV000824803 RCV002508916 RCV001084507

NM_003900.5(SQSTM1):c.1165+1G>A

SNV
Germline

Chr5:179833783

Pathogenic

Paget disease of bone 3
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Myopathy, distal, with rimmed vacuoles

Criteria Provided
Single Submitter

CA340743

rs_796051870

2 SubmittersRCV000008578 RCV000652541 RCV001799592

NM_007126.5(VCP):c.464G>A (p.Arg155His)

SNV
Germline

Chr9:35065363

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA128983

rs_121909329

11 SubmittersRCV000008989 RCV000523065 RCV000540496 RCV001271089 RCV002336080

NM_007126.5(VCP):c.463C>T (p.Arg155Cys)

SNV
Germline

Chr9:35065364

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254398

rs_121909330

7 SubmittersRCV000008990 RCV000372207 RCV000685660 RCV001095424

NM_007126.5(VCP):c.695C>A (p.Ala232Glu)

SNV
Germline

Chr9:35064167

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Condition: not provided

Criteria Provided
Single Submitter

CA254400

rs_121909331

2 SubmittersRCV000008991 RCV001172005

NM_007126.5(VCP):c.283C>G (p.Arg95Gly)

SNV
Germline

Chr9:35067910

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

No Assertion Criteria Provided

CA254402

rs_121909332

1 SubmittersRCV000008992

NM_007126.5(VCP):c.464G>C (p.Arg155Pro)

SNV
Germline

Chr9:35065363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA254404

rs_121909329

3 SubmittersRCV000008993 RCV001387337 RCV003137504

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

SNV
Germline

Chr9:35065255

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254406

rs_121909334

11 SubmittersRCV000008994 RCV000023064 RCV000555373 RCV000516636 RCV002496309

NM_007126.5(VCP):c.476G>A (p.Arg159His)

SNV
Germline

Chr9:35065351

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
VCP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA254408

rs_121909335

11 SubmittersRCV000008995 RCV000276565 RCV000639653 RCV003335021 RCV004532314

NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)

SNV
Germline

Chr17:46010389

Pathogenic

Frontotemporal dementia
Condition: not provided
Progressive supranuclear ophthalmoplegia
Frontotemporal dementia
Pick disease
Parkinson disease, late-onset
Progressive supranuclear palsy-parkinsonism syndrome
Supranuclear palsy, progressive, 1
MAPT-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA225444

rs_63751273

11 SubmittersRCV000015313 RCV000084527 RCV000763405 RCV002508757 RCV003407335

NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val)

SNV
Germline

Chr17:45996657

Pathogenic

Frontotemporal dementia
Condition: not provided

No Assertion Criteria Provided

CA225421

rs_63750376

2 SubmittersRCV000015315 RCV000084519

NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)

SNV
Germline

Chr17:46024061

Pathogenic

Frontotemporal dementia
Condition: not provided
Supranuclear palsy, progressive, 1
Frontotemporal dementia
Pick disease
Parkinson disease, late-onset
Progressive supranuclear palsy-parkinsonism syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA225495

rs_63750424

10 SubmittersRCV000015316 RCV000084554 RCV002476970

NM_001377265.1(MAPT):c.2091+14C>T

SNV
Germline

Chr17:46010416

Pathogenic

Frontotemporal dementia
Condition: not provided

No Assertion Criteria Provided

CA225464

rs_63750972

2 SubmittersRCV000015317 RCV000084536

NM_001377265.1(MAPT):c.2091+1G>A

SNV
Germline

Chr17:46010403

Pathogenic

Frontotemporal dementia

No Assertion Criteria Provided

rs_1568327531

1 SubmittersRCV000015320

NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)

SNV
Germline

Chr17:46018629

Pathogenic

Frontotemporal dementia
Condition: not provided

Criteria Provided
Single Submitter

CA225483

rs_63750570

3 SubmittersRCV000015321 RCV000084548

NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)

SNV
Germline

Chr17:46010324

Pathogenic

Frontotemporal dementia
Condition: not provided
Progressive supranuclear ophthalmoplegia
Parkinson disease, late-onset
Progressive supranuclear palsy-parkinsonism syndrome
Frontotemporal dementia
Pick disease

Criteria Provided
Multiple Submitters
No Conflicts

CA225424

rs_63750756

6 SubmittersRCV000015322 RCV000084521 RCV000763404

NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn)

SNV
Germline

Chr17:46010401

Pathogenic

Frontotemporal dementia
Condition: not provided

No Assertion Criteria Provided

CA225453

rs_63751165

2 SubmittersRCV000015323 RCV000084530

NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)

SNV
Germline

Chr17:46024010

Pathogenic/Likely pathogenic

Condition: not provided
Frontotemporal dementia
Pick disease

Criteria Provided
Multiple Submitters
No Conflicts

CA257189

rs_63750512

3 SubmittersRCV000517183 RCV001851871 RCV000015324

NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)

SNV
Germline

Chr17:46010388

Pathogenic

Frontotemporal dementia
Condition: not provided

No Assertion Criteria Provided

CA225439

rs_63751438

2 SubmittersRCV000015325 RCV000084526

NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)

SNV
Germline

Chr17:46010375

Pathogenic

Frontotemporal dementia
Condition: not provided

Criteria Provided
Single Submitter

CA225434

rs_63750912

3 SubmittersRCV000015326 RCV000084525

NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val)

SNV
Germline

Chr17:46018645

Pathogenic

Frontotemporal dementia
Condition: not provided

No Assertion Criteria Provided

CA225485

rs_63750711

2 SubmittersRCV000015327 RCV000084549

NM_001377265.1(MAPT):c.14G>A (p.Arg5His)

SNV
Germline

Chr17:45962351

Conflicting classifications of pathogenicity

Frontotemporal dementia
MAPT-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA257191

rs_63750959

3 SubmittersRCV000015330 RCV000266864

NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)

SNV
Germline

Chr17:46014286

Pathogenic

Pick disease
Condition: not provided
Frontotemporal dementia

Criteria Provided
Single Submitter

CA225475

rs_63750635

3 SubmittersRCV000015331 RCV000084544 RCV000995804

NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)

SNV
Germline

Chr17:45996638

Pathogenic

Frontotemporal dementia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA225417

rs_63750349

4 SubmittersRCV000015336 RCV000084517

NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met)

SNV
Germline

Chr17:46014277

Pathogenic

Frontotemporal dementia
Condition: not provided

No Assertion Criteria Provided

CA225473

rs_63750092

2 SubmittersRCV000015338 RCV000084543

NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)

SNV
Germline

Chr14:73173663

Pathogenic

Alzheimer disease 3
Condition: not provided
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341490

rs_63750306

6 SubmittersRCV000019751 RCV003105774 RCV001248367

NM_000021.4(PSEN1):c.488A>G (p.His163Arg)

SNV
Germline

Chr14:73186860

Pathogenic

Alzheimer disease 3
Condition: not provided
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Acne inversa, familial, 3
Pick disease
Dilated cardiomyopathy 1U
Frontotemporal dementia
Alzheimer disease 3
PSEN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA225034

rs_63750590

6 SubmittersRCV000019752 RCV000084318 RCV000534810 RCV002490394 RCV003407347

NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)

SNV
Germline

Chr14:73192832

Pathogenic

Alzheimer disease 3
Condition: not provided
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225104

rs_63750526

4 SubmittersRCV000019753 RCV000084361 RCV000542870

NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)

SNV
Germline

Chr14:73217225

Pathogenic

Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Alzheimer disease 3
Condition: not provided

Criteria Provided
Single Submitter

CA225174

rs_661

3 SubmittersRCV000640605 RCV000019755 RCV000084407

NM_000021.4(PSEN1):c.415A>G (p.Met139Val)

SNV
Germline

Chr14:73173642

Pathogenic

Alzheimer disease 3
Condition: not provided
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225015

rs_63751037

8 SubmittersRCV000019756 RCV000084304 RCV003764610

NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)

SNV
Germline

Chr14:73198100

Pathogenic

Alzheimer disease 3
Acne inversa, familial, 3
Pick disease
Alzheimer disease 3
Frontotemporal dementia

Criteria Provided
Single Submitter

CA341491

rs_63750231

3 SubmittersRCV000019759 RCV000701892

NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)

SNV
Germline

Chr14:73198100

Pathogenic

Alzheimer disease 3
Alzheimer disease, familial, with spastic paraparesis and unusual plaques
Condition: not provided
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA127837

rs_63750231

5 SubmittersRCV000019760 RCV000019761 RCV000084381 RCV002513125

NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)

SNV
Germline

Chr14:73219161

Likely pathogenic

Acne inversa, familial, 3
Dilated cardiomyopathy 1U
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Alzheimer disease 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA225181

rs_63751223

5 SubmittersRCV000763348 RCV000019766 RCV000084411

NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)

SNV
Germline

Chr14:73192712

Pathogenic

Alzheimer disease 3
Condition: not provided
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease
Alzheimer disease 3
Acne inversa, familial, 3
Frontotemporal dementia
Dilated cardiomyopathy 1U
Pick disease
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA258122

rs_63750082

8 SubmittersRCV000019773 RCV000518563 RCV000640609 RCV002482890

NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)

SNV
Germline

Chr14:73171047

Likely pathogenic

Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Frontotemporal dementia
Alzheimer disease 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224998

rs_63751399

5 SubmittersRCV001228362 RCV000019775 RCV000020084 RCV000084292

NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)

SNV
Germline

Chr14:73198072

Pathogenic

Alzheimer disease, familial, 3, with unusual plaques
Condition: not provided
Alzheimer disease 3
Spastic paraparesis
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Acne inversa, familial, 3
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA127840

rs_63750886

5 SubmittersRCV000019778 RCV000084375 RCV000984888 RCV001204170 RCV002051789

NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile)

SNV
Germline

Chr14:73198094

Pathogenic

Alzheimer disease 3
Condition: not provided
Acne inversa, familial, 3
Pick disease
Alzheimer disease 3
Frontotemporal dementia

Criteria Provided
Single Submitter

CA225129

rs_63749891

3 SubmittersRCV000019782 RCV000084379 RCV002513126

NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)

SNV
Germline

Chr14:73219177

Pathogenic

Alzheimer disease 3
Condition: not provided
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341492

rs_63750083

9 SubmittersRCV000019785 RCV000517533 RCV000640606

NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)

SNV
Germline

Chr14:73211811

Conflicting classifications of pathogenicity

Heart failure
Primary dilated cardiomyopathy
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Dilated cardiomyopathy 1U

Criteria Provided
Conflicting Classifications

CA258124

rs_121917809

3 SubmittersRCV000171844 RCV000877625 RCV000019786

NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)

SNV
Germline

Chr14:73170945

Pathogenic

Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Alzheimer disease 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224983

rs_63749824

5 SubmittersRCV000529477 RCV000019787 RCV000084281

NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)

SNV
Germline

Chr14:73192744

Likely pathogenic

Alzheimer disease, familial, 3, with unusual plaques
Acne inversa, familial, 3
Pick disease
Alzheimer disease 3
Frontotemporal dementia

Criteria Provided
Single Submitter

CA127843

rs_267606983

2 SubmittersRCV000019789 RCV001377214

NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)

SNV
Germline

Chr14:73217171

Pathogenic

Condition: not provided
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Alzheimer disease 3

Criteria Provided
Single Submitter

CA225168

rs_63750218

3 SubmittersRCV000084403 RCV002514122 RCV000020082

NM_000021.4(PSEN1):c.697A>G (p.Met233Val)

SNV
Germline

Chr14:73192792

Pathogenic/Likely pathogenic

Alzheimer disease 3
Condition: not provided
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341527

rs_63751287

5 SubmittersRCV000020086 RCV000712874 RCV000818883

NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)

SNV
Germline

Chr1:11022444

Pathogenic

TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

rs_80356732

1 SubmittersRCV000703167

NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)

SNV
Germline

Chr1:11022464

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA17876354

rs_80356734

8 SubmittersRCV000020657 RCV000993301 RCV001851975

NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)

SNV
Germline

Chr1:11022553

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
TARDBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150788

rs_367543041

7 SubmittersRCV000020663 RCV000106321 RCV000413910 RCV002513146 RCV003944833

NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)

SNV
Germline

Chr1:11022556

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
See cases

Criteria Provided
Multiple Submitters
No Conflicts

rs_80356740

11 SubmittersRCV001579671 RCV000995885 RCV001851976 RCV002251918

NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)

SNV
Germline

Chr1:11022577

Conflicting classifications of pathogenicity

Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

rs_80356741

3 SubmittersRCV001570554 RCV003764614 RCV003407351

NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)

SNV
Germline

Chr1:11022578

Conflicting classifications of pathogenicity

Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_80356742

3 SubmittersRCV001732914 RCV001861034 RCV002329720

NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)

SNV
Germline

Chr1:11016874

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Condition: not provided
Inborn genetic diseases
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

CA586343

rs_80356715

8 SubmittersRCV000020670 RCV000821536 RCV001311624 RCV002426513 RCV003924849

NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)

SNV
Germline

Chr1:11022209

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Frontotemporal lobar degeneration, TARDBP-related
TARDBP-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA586454

rs_80356718

7 SubmittersRCV000020671 RCV001851977 RCV002051795 RCV003904854 RCV003242964 RCV004546414

NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)

SNV
Germline

Chr1:11022268

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
Motor neuron disease
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA586459

rs_80356719

6 SubmittersRCV000020672 RCV000412864 RCV000492328 RCV000529539

NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)

SNV
Germline

Chr1:11022290

Pathogenic

TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Condition: not provided
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA342121

rs_80356721

4 SubmittersRCV001390939 RCV002472934 RCV000020673

NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)

SNV
Germline

Chr1:11022292

Pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

CA342123

rs_80356723

3 SubmittersRCV000020674 RCV003764615

NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg)

SNV
Germline

Chr1:11022292

Conflicting classifications of pathogenicity

Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Conflicting Classifications

rs_80356723

2 SubmittersRCV002474373 RCV002569399

NM_007375.4(TARDBP):c.931A>G (p.Met311Val)

SNV
Germline

Chr1:11022340

Likely pathogenic

TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_80356725

3 SubmittersRCV000694078 RCV003334377 RCV003311663

NM_007126.5(VCP):c.475C>G (p.Arg159Gly)

SNV
Germline

Chr9:35065352

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

No Assertion Criteria Provided

CA259748

rs_387906789

1 SubmittersRCV000023065

NM_007126.5(VCP):c.1774G>A (p.Asp592Asn)

SNV
Germline

Chr9:35059723

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

No Assertion Criteria Provided

CA128985

rs_387906790

1 SubmittersRCV000023066

NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)

SNV
Germline

Chr3:87245898

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

No Assertion Criteria Provided

CA260074

rs_281864934

2 SubmittersRCV000055937

NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)

SNV
Germline

Chr16:31190398

Conflicting classifications of pathogenicity

Tremor, hereditary essential, 4
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
Condition: not provided
Frontotemporal dementia
Amyotrophic lateral sclerosis
Inborn genetic diseases
FUS-related disorder

Criteria Provided
Conflicting Classifications

CA130060

rs_186547381

8 SubmittersRCV000030718 RCV000765290 RCV000711709 RCV001847624 RCV003993752 RCV002381274 RCV003407373

NM_000021.4(PSEN1):c.806G>A (p.Arg269His)

SNV
Germline

Chr14:73198067

Pathogenic

Alzheimer disease 4
Condition: not provided
Alzheimer disease 3
Acne inversa, familial, 3
Pick disease
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA225122

rs_63750900

5 SubmittersRCV000031858 RCV000084374 RCV000689465

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

SNV
Germline

Chr16:89546737

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090884

rs_61755320

55 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV003421943 RCV002463623

NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val)

SNV
Germline

Chr12:54283845

Likely pathogenic

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Condition: not provided

Criteria Provided
Single Submitter

CA144797

rs_397518452

2 SubmittersRCV000055649 RCV001781388

NM_002137.4(HNRNPA2B1):c.869A>T (p.Asp290Val)

SNV
Germline

Chr7:26193346

Pathogenic

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

No Assertion Criteria Provided

CA144798

rs_397515326

1 SubmittersRCV000055652

NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)

SNV
Germline

Chr22:50627375

Pathogenic

Condition: not provided
Metachromatic leukodystrophy
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA219008

rs_199476352

6 SubmittersRCV000058956 RCV000409776 RCV001090098

NM_014043.4(CHMP2B):c.532-1G>C

SNV
Germline

Chr3:87253711

Pathogenic

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

No Assertion Criteria Provided

CA224977

rs_63750652

2 SubmittersRCV000084277 RCV002055246

NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)

SNV
Germline

Chr14:73170813

Conflicting classifications of pathogenicity

Condition: not provided
Alzheimer disease
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3
Alzheimer disease 3
Dilated cardiomyopathy 1U

Criteria Provided
Conflicting Classifications

CA224981

rs_63750592

5 SubmittersRCV000084280 RCV000172094 RCV000640608 RCV001120058 RCV001120057

NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)

SNV
Germline

Chr14:73173571

Pathogenic/Likely pathogenic

Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225002

rs_63750450

5 SubmittersRCV000084295 RCV000640610 RCV001199924

NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)

SNV
Germline

Chr14:73173574

Pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225003

rs_63750730

2 SubmittersRCV000084296 RCV002514493

NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser)

SNV
Germline

Chr14:73173576

Pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225005

rs_63750550

2 SubmittersRCV000084297 RCV002514494

NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)

SNV
Germline

Chr14:73173630

Likely pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225012

rs_63750353

2 SubmittersRCV000084302 RCV001854472

NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)

SNV
Germline

Chr14:73173631

Pathogenic/Likely pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Acne inversa, familial, 3
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225013

rs_63751278

4 SubmittersRCV000084303 RCV000824341 RCV003387756

NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)

SNV
Germline

Chr14:73173655

Pathogenic

Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225019

rs_63750004

4 SubmittersRCV000084308 RCV001071503 RCV003993799

NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)

SNV
Germline

Chr14:73173665

Pathogenic

Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225023

rs_63750391

3 SubmittersRCV000084311 RCV001854473

NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)

SNV
Germline

Chr14:73186878

Pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225045

rs_63751210

2 SubmittersRCV000084325 RCV002513897

NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)

SNV
Germline

Chr14:73186884

Pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225048

rs_63750963

2 SubmittersRCV000084327 RCV002514495

NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)

SNV
Germline

Chr14:73186902

Pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225057

rs_63749806

2 SubmittersRCV000084333 RCV002513898

NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)

SNV
Germline

Chr14:73192647

Pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225063

rs_63750311

2 SubmittersRCV000084336 RCV001857411

NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)

SNV
Germline

Chr14:73192721

Pathogenic

Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225070

rs_63750053

2 SubmittersRCV000084340 RCV000640604

NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)

SNV
Unknown

Chr14:73192786

Likely pathogenic

Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Dilated cardiomyopathy 1U
Acne inversa, familial, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225090

rs_63749836

3 SubmittersRCV000084352 RCV000763347

NM_000021.4(PSEN1):c.779C>T (p.Ala260Val)

SNV
Germline

Chr14:73198040

Pathogenic

Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225110

rs_63751420

2 SubmittersRCV000084365 RCV003764779

NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)

SNV
Germline

Chr14:73198052

Pathogenic/Likely pathogenic

Condition: not provided
Mental deterioration
Dementia
Alzheimer disease 3
Pick disease
Acne inversa, familial, 3
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA225117

rs_63750301

6 SubmittersRCV000084370 RCV000415376 RCV001387954

NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)

SNV
Germline

Chr14:73198061

Likely pathogenic

Condition: not provided
Alzheimer disease 3
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225119

rs_63750779

4 SubmittersRCV000084372 RCV001261442 RCV002514496

NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)

SNV
Germline

Chr14:73217170

Pathogenic

Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA225167

rs_63751416

3 SubmittersRCV000084402 RCV002513899

NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val)

SNV
Germline

Chr14:73217177

Pathogenic

Condition: not provided
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

CA225170

rs_63750929

2 SubmittersRCV000084404 RCV002513900

NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)

SNV
Germline

Chr14:73217221

Conflicting classifications of pathogenicity

Condition: not provided
Alzheimer disease 3
Pick disease
Acne inversa, familial, 3
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA225173

rs_63750227

3 SubmittersRCV000084406 RCV000811198

NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)

SNV
Germline

Chr14:73219177

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA225182

rs_63750083

3 SubmittersRCV000084412 RCV002288582

NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)

SNV
Germline

Chr17:45996557

Conflicting classifications of pathogenicity

Condition: not provided
MAPT-Related Spectrum Disorders
Frontotemporal dementia
Progressive supranuclear palsy-parkinsonism syndrome
MAPT-related disorder

Criteria Provided
Conflicting Classifications

CA225409

rs_63750096

7 SubmittersRCV000084513 RCV000325065 RCV000805364 RCV003993800 RCV003935077

NM_001377265.1(MAPT):c.1999-10G>T

SNV
Germline

Chr17:46010300

Pathogenic

Condition: not provided
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA225423

rs_63749974

3 SubmittersRCV000084520 RCV002513906

NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)

SNV
Germline

Chr17:46010402

Pathogenic/Likely pathogenic

Condition: not provided
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA225458

rs_63750568

3 SubmittersRCV000084531 RCV000989937

NM_001377265.1(MAPT):c.2091+11T>C

SNV
Germline

Chr17:46010413

Pathogenic

Frontotemporal dementia
Condition: not provided

No Assertion Criteria Provided

CA225461

rs_63751394

2 SubmittersRCV000015333 RCV000084533

NM_001377265.1(MAPT):c.2091+13A>G

SNV
Germline

Chr17:46010415

Pathogenic

Frontotemporal dementia
Condition: not provided

No Assertion Criteria Provided

CA225463

rs_63750308

2 SubmittersRCV000015318 RCV000084535

NM_001377265.1(MAPT):c.2091+16C>T

SNV
Germline

Chr17:46010418

Pathogenic

Condition: not provided
Memory impairment
Mental deterioration
Frontotemporal dementia
Dementia
Frontotemporal dementia
MAPT-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA225465

rs_63751011

10 SubmittersRCV000084537 RCV000626753 RCV000626752 RCV000687510 RCV003415858

NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser)

SNV
Germline

Chr17:46018623

Likely pathogenic

Condition: not provided
Frontotemporal dementia

Criteria Provided
Single Submitter

CA225477

rs_63750095

2 SubmittersRCV000084545 RCV003514309

NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)

SNV
Germline

Chr17:46018707

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia
MAPT-related disorder

Criteria Provided
Conflicting Classifications

CA225490

rs_63750869

4 SubmittersRCV000084551 RCV000692998 RCV003905079

NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)

SNV
Germline/somatic

Chr20:63349777

Conflicting classifications of pathogenicity

Tobacco use disorder
Condition: not provided
Autosomal dominant nocturnal frontal lobe epilepsy
Frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA150420

rs_121912282

7 SubmittersRCV000084610 RCV000513088 RCV000654320 RCV001847655 RCV002513908

NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)

SNV
Germline

Chr14:73217137

Likely pathogenic

Alzheimer disease familial 3, with spastic paraparesis
Alzheimer disease 3
Frontotemporal dementia
Alzheimer disease 3
Acne inversa, familial, 3
Pick disease

Criteria Provided
Multiple Submitters
No Conflicts

CA150766

rs_63750687

3 SubmittersRCV000106293 RCV000625969 RCV003764803

NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)

SNV
Germline

Chr22:23767459

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA163486

rs_587777574

5 SubmittersRCV000128857 RCV000192232 RCV001268565

NM_006000.3(TUBA4A):c.643C>T (p.Arg215Cys)

SNV
Germline

Chr2:219251056

Pathogenic

Amyotrophic lateral sclerosis 22 with frontotemporal dementia

No Assertion Criteria Provided

CA185903

rs_730880028

1 SubmittersRCV000157037

NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)

SNV
Germline

Chr22:23767591

Pathogenic

Condition: not provided
Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA235291

rs_730880030

4 SubmittersRCV000157069 RCV000804540 RCV001731147 RCV002463652

NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)

SNV
Germline

Chr1:11022559

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Condition: not provided
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA347247

rs_797044594

3 SubmittersRCV000192195 RCV000713823 RCV000795453

NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)

SNV
Germline

Chr5:179833777

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Condition: not provided
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Conflicting Classifications

CA203868

rs_776749939

3 SubmittersRCV000184065 RCV000481808 RCV001323701

NM_013254.4(TBK1):c.2138+2T>C

SNV
Germline

Chr12:64498041

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Condition: not provided

Criteria Provided
Single Submitter

CA10575728

rs_876657406

2 SubmittersRCV000185597 RCV001532209

NM_013254.4(TBK1):c.1340+1G>A

SNV
Germline

Chr12:64486018

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

No Assertion Criteria Provided

CA6669037

rs_767898276

1 SubmittersRCV000185599

NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)

SNV
Germline

Chr12:64497987

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

No Assertion Criteria Provided

CA203889

rs_748112833

1 SubmittersRCV000185600

NM_002087.4(GRN):c.462+1G>C

SNV
Germline

Chr17:44350341

Pathogenic

Frontotemporal dementia

No Assertion Criteria Provided

CA275530

rs_794729669

1 SubmittersRCV000185610

NM_002087.4(GRN):c.708+1G>A

SNV
Germline

Chr17:44350801

Pathogenic/Likely pathogenic

Frontotemporal dementia
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Condition: not provided
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11

Criteria Provided
Multiple Submitters
No Conflicts

CA275539

rs_63749817

7 SubmittersRCV000185615 RCV000503399 RCV000513518 RCV003765160

NM_002087.4(GRN):c.882T>G (p.Tyr294Ter)

SNV
Germline

Chr17:44351409

Pathogenic

Frontotemporal dementia
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Criteria Provided
Single Submitter

CA275531

rs_794729670

2 SubmittersRCV000185611 RCV001254078

NM_002087.4(GRN):c.1212C>A (p.Cys404Ter)

SNV
Germline

Chr17:44352047

Pathogenic

Frontotemporal dementia

No Assertion Criteria Provided

CA275534

rs_193026789

1 SubmittersRCV000185612

NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)

SNV
Germline

Chr22:23767396

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Condition: not provided
Amyotrophic lateral sclerosis
Inborn genetic diseases
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

CA347297

rs_775332895

8 SubmittersRCV000192233 RCV000558062 RCV000990378 RCV001092755 RCV002221211 RCV002453685 RCV003927730

NM_007126.5(VCP):c.463C>G (p.Arg155Gly)

SNV
Germline

Chr9:35065364

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277489

rs_121909330

3 SubmittersRCV000196145 RCV000494556 RCV002229498

NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)

SNV
Germline

Chr9:35067922

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

CA279635

rs_863225291

3 SubmittersRCV000201935 RCV001271088 RCV001271081 RCV002519583

NM_007126.5(VCP):c.553G>A (p.Glu185Lys)

SNV
Germline

Chr9:35065274

Likely pathogenic

Charcot-Marie-Tooth disease type 2Y
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA213386

rs_864309501

4 SubmittersRCV000202444 RCV002229147 RCV002345722

NM_007126.5(VCP):c.290G>A (p.Gly97Glu)

SNV
Germline

Chr9:35067903

Pathogenic

Charcot-Marie-Tooth disease type 2Y
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

CA213389

rs_864309502

2 SubmittersRCV000202492 RCV001853259

NM_013254.4(TBK1):c.964C>T (p.His322Tyr)

SNV
Germline

Chr12:64481993

Conflicting classifications of pathogenicity

not specified
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
TBK1-related disorder

Criteria Provided
Conflicting Classifications

CA6668932

rs_145905497

3 SubmittersRCV000238938 RCV000545768 RCV003930020

NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)

SNV
Germline

Chr5:179821034

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 3
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3600374

rs_200396166

6 SubmittersRCV000184066 RCV000652548 RCV001155398 RCV001636735 RCV002518539 RCV003387820

NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)

SNV
Germline

Chr2:70212810

Conflicting classifications of pathogenicity

Welander distal myopathy
not specified
Condition: not provided
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
TIA1-related disorder

Criteria Provided
Conflicting Classifications

CA1697407

rs_116621885

7 SubmittersRCV000250393 RCV000516506 RCV000859341 RCV003989508 RCV003891965

NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)

SNV
Germline

Chr5:179833201

Conflicting classifications of pathogenicity

not specified
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Paget disease of bone 2, early-onset
Paget disease of bone 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3600727

rs_139482113

9 SubmittersRCV000242491 RCV000535702 RCV000625252 RCV001154682 RCV001576573

NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)

SNV
Germline

Chr14:73211830

Conflicting classifications of pathogenicity

not specified
Pick disease
Alzheimer disease 3
Frontotemporal dementia
Acne inversa, familial, 3
Condition: not provided
Dilated cardiomyopathy 1U
Alzheimer disease 3

Criteria Provided
Conflicting Classifications

CA7256904

rs_201776669

5 SubmittersRCV000245357 RCV000861613 RCV001528384 RCV000285032 RCV000342174

NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)

SNV
Germline

Chr5:179823038

Pathogenic

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA10588825

rs_886039782

4 SubmittersRCV000256198 RCV001062487

NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)

SNV
Germline

Chr12:64466994

Conflicting classifications of pathogenicity

Motor neuron disease
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

CA6668820

rs_55824172

2 SubmittersRCV000492091 RCV001855019

NM_013254.4(TBK1):c.829C>G (p.Leu277Val)

SNV
Germline

Chr12:64481858

Conflicting classifications of pathogenicity

Condition: not provided
Motor neuron disease
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

CA238264724

rs_905184241

3 SubmittersRCV000520272 RCV000492371 RCV001855020

NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)

SNV
Germline

Chr12:64486007

Pathogenic; other

Motor neuron disease
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6669034

rs_142030898

3 SubmittersRCV000492391 RCV000760460 RCV001859503

NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)

SNV
Germline

Chr16:50777915

Pathogenic

Familial cylindromatosis
Condition: not provided
Brooke-Spiegler syndrome
Familial cylindromatosis
Trichoepithelioma, multiple familial, 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10590069

rs_886040872

5 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV003469207

NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)

SNV
Germline

Chr16:50792654

Pathogenic

Familial cylindromatosis
Brooke-Spiegler syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10590086

rs_886040888

3 SubmittersRCV000257977 RCV002466483 RCV003469208

NM_007126.5(VCP):c.475C>T (p.Arg159Cys)

SNV
Germline

Chr9:35065352

Pathogenic/Likely pathogenic

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA5039453

rs_387906789

6 SubmittersRCV000333881 RCV001095425 RCV002229732

NM_007126.5(VCP):c.283C>T (p.Arg95Cys)

SNV
Germline

Chr9:35067910

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Amyotrophic lateral sclerosis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia
Inborn genetic diseases
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

CA10603200

rs_121909332

9 SubmittersRCV000280148 RCV000761344 RCV001095441 RCV001215048 RCV001391611 RCV002436094 RCV004556775

NM_007126.5(VCP):c.1584C>T (p.Ala528=)

SNV
Germline

Chr9:35060424

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
not specified
Inborn genetic diseases
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039215

rs_147623367

13 SubmittersRCV000321351 RCV001168925 RCV001081085 RCV001580089 RCV002401981 RCV001168167 RCV004535294

NM_007126.5(VCP):c.*4G>T

SNV
Germline

Chr9:35057113

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
not specified
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5039057

rs_201091341

9 SubmittersRCV000291446 RCV000301970 RCV000376145 RCV001252622 RCV001559813

NM_007126.5(VCP):c.954C>T (p.Gly318=)

SNV
Germline

Chr9:35062130

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

CA5039344

rs_377316335

2 SubmittersRCV000338106 RCV001069332

NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)

SNV
Germline

Chr3:87245805

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
not specified
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

CA2500938

rs_192188850

4 SubmittersRCV000390491 RCV000516998 RCV003401367

NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)

SNV
Germline

Chr5:179833189

Conflicting classifications of pathogenicity

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA3600723

rs_370970067

2 SubmittersRCV000398656 RCV002058528

NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)

SNV
Germline

Chr5:179824262

Conflicting classifications of pathogenicity

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA10624299

rs_878982215

2 SubmittersRCV000387568 RCV000544510

NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)

SNV
Germline

Chr5:179825159

Conflicting classifications of pathogenicity

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA3600618

rs_140341924

2 SubmittersRCV000293194 RCV001365629

NM_007126.5(VCP):c.1360-6T>C

SNV
Germline

Chr9:35060929

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA5039263

rs_370296303

2 SubmittersRCV000299794 RCV000354748 RCV003766109

NM_007126.5(VCP):c.*700C>A

SNV
Germline

Chr9:35056417

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10633600

rs_537730311

2 SubmittersRCV000279189 RCV000373728 RCV003430970

NM_001377265.1(MAPT):c.2271C>T (p.Gly757=)

SNV
Germline

Chr17:46018715

Conflicting classifications of pathogenicity

MAPT-Related Spectrum Disorders
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA8618231

rs_148501218

2 SubmittersRCV000284697 RCV001421102

NM_000021.4(PSEN1):c.654A>G (p.Pro218=)

SNV
Germline

Chr14:73192749

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U
Alzheimer disease 3
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Conflicting Classifications

CA7256797

rs_115760359

2 SubmittersRCV000277519 RCV000325529 RCV000954050

NM_002087.4(GRN):c.393C>T (p.Phe131=)

SNV
Germline

Chr17:44350271

Conflicting classifications of pathogenicity

Frontotemporal dementia
Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Criteria Provided
Conflicting Classifications

CA8601872

rs_149180605

2 SubmittersRCV000349606 RCV002056604

NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)

SNV
Germline

Chr14:73211815

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U
Alzheimer disease 3
Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Conflicting Classifications

CA7256899

rs_116640707

4 SubmittersRCV000329570 RCV000377075 RCV000874610 RCV001088486

NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr)

SNV
Germline

Chr17:45991484

Conflicting classifications of pathogenicity

MAPT-Related Spectrum Disorders
Frontotemporal dementia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8617962

rs_143624519

5 SubmittersRCV000356485 RCV000532567 RCV001531268 RCV004526663

NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)

SNV
Germline

Chr16:50749757

Conflicting classifications of pathogenicity

Brooke-Spiegler syndrome
Familial multiple trichoepitheliomata
Familial cylindromatosis
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Conflicting Classifications

CA8052119

rs_764097337

3 SubmittersRCV000311859 RCV000370163 RCV000404707 RCV002264928 RCV003469254

NM_001377265.1(MAPT):c.220+2538C>G

SNV
Germline

Chr17:45974483

Conflicting classifications of pathogenicity

MAPT-Related Spectrum Disorders
Condition: not provided
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA8617603

rs_368845248

4 SubmittersRCV000260870 RCV001579853 RCV002522982

NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)

SNV
Germline

Chr5:179833033

Conflicting classifications of pathogenicity

not specified
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA16604940

rs_769297000

2 SubmittersRCV000444659 RCV001055830

NM_001377265.1(MAPT):c.2364G>A (p.Ser788=)

SNV
Germline

Chr17:46024033

Conflicting classifications of pathogenicity

Condition: not provided
MAPT-Related Spectrum Disorders
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA8618258

rs_377720312

3 SubmittersRCV000488020 RCV001122795 RCV002063827

NM_007126.5(VCP):c.383G>C (p.Gly128Ala)

SNV
Germline

Chr9:35066737

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA373291969

rs_1554668979

2 SubmittersRCV000498690 RCV003766796

NM_007375.4(TARDBP):c.87C>T (p.Ser29=)

SNV
Germline

Chr1:11013814

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA586308

rs_201693535

4 SubmittersRCV000513594 RCV002448554 RCV002524956

NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)

SNV
Germline

Chr5:179833613

Conflicting classifications of pathogenicity

not specified
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Paget disease of bone 3

Criteria Provided
Conflicting Classifications

CA3600778

rs_141436407

5 SubmittersRCV000518450 RCV000625254 RCV000872567 RCV001157195

NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)

SNV
Germline

Chr5:179833725

Conflicting classifications of pathogenicity

not specified
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 3
Condition: not provided
SQSTM1-related disorder

Criteria Provided
Conflicting Classifications

CA3600800

rs_143956614

6 SubmittersRCV000518391 RCV000873769 RCV001157196 RCV001579517 RCV004541623

NM_007126.5(VCP):c.278G>A (p.Arg93His)

SNV
Germline

Chr9:35067915

Likely pathogenic

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA5039527

rs_779959657

2 SubmittersRCV000520021 RCV002231635

NM_007126.5(VCP):c.426G>A (p.Ala142=)

SNV
Germline

Chr9:35066694

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039486

rs_577812326

3 SubmittersRCV000525916 RCV000598290 RCV002330872

NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)

SNV
Germline

Chr9:35061172

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Condition: not provided
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039291

rs_148329626

7 SubmittersRCV000534353 RCV001579523 RCV002350262 RCV004537963

NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)

SNV
Germline

Chr22:23767421

Conflicting classifications of pathogenicity

Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10145294

rs_542541060

2 SubmittersRCV000558937 RCV002530220

NM_007126.5(VCP):c.1896C>A (p.Ala632=)

SNV
Germline

Chr9:35059601

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039169

rs_141275388

4 SubmittersRCV000598527 RCV001403231 RCV002413682 RCV004530715

NM_013254.4(TBK1):c.1792A>G (p.Met598Val)

SNV
Germline

Chr12:64496980

Conflicting classifications of pathogenicity

not specified
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

CA238276382

rs_899858451

2 SubmittersRCV000614658 RCV000687975

NM_003900.5(SQSTM1):c.372C>T (p.Pro124=)

SNV
Germline

Chr5:179823928

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 3

Criteria Provided
Conflicting Classifications

CA3600490

rs_11548640

2 SubmittersRCV000652545 RCV001157083

NM_007126.5(VCP):c.478G>C (p.Ala160Pro)

SNV
Germline

Chr9:35065349

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA373289512

rs_1554668805

4 SubmittersRCV000639654 RCV000993545 RCV001535609

NM_001377265.1(MAPT):c.1802G>A (p.Arg601His)

SNV
Germline

Chr17:45996468

Conflicting classifications of pathogenicity

Frontotemporal dementia
MAPT-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA8618037

rs_115492908

2 SubmittersRCV000635209 RCV001128500

NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)

SNV
Germline

Chr22:23766263

Conflicting classifications of pathogenicity

Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10145271

rs_374353973

2 SubmittersRCV000650707 RCV002440358

NM_001377265.1(MAPT):c.1884G>A (p.Pro628=)

SNV
Germline

Chr17:45996550

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_145897970

2 SubmittersRCV000658785 RCV002060787

NM_007126.5(VCP):c.1194+3G>A

SNV
Germline

Chr9:35061574

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Condition: not provided
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

rs_183223259

6 SubmittersRCV000685579 RCV000733640 RCV002334250 RCV004535704

NM_007126.5(VCP):c.374G>A (p.Gly125Asp)

SNV
Germline

Chr9:35066746

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_1563980403

2 SubmittersRCV001809749 RCV002233201

NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)

SNV
Germline

Chr12:64497257

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
TBK1-related disorder

Criteria Provided
Conflicting Classifications

rs_144370662

2 SubmittersRCV000704095 RCV003980319

NM_000021.4(PSEN1):c.869-2A>T

SNV
Germline

Chr14:73206384

Pathogenic

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

rs_1566650594

1 SubmittersRCV000703026

NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)

SNV
Germline

Chr22:23766261

Conflicting classifications of pathogenicity

Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1252496774

2 SubmittersRCV000688111 RCV002440432

NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)

SNV
Germline

Chr22:23766225

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_9153

2 SubmittersRCV000685394 RCV001268858

NM_007375.4(TARDBP):c.669C>G (p.Pro223=)

SNV
Germline

Chr1:11020554

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Inborn genetic diseases
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

rs_149517613

6 SubmittersRCV000713824 RCV001101666 RCV001467552 RCV003303206 RCV003965466

NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)

SNV
Germline

Chr9:132326926

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_764920626

4 SubmittersRCV000713215 RCV001165734 RCV001169728 RCV001861986 RCV001849076

NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)

SNV
Germline

Chr14:73192730

Pathogenic/Likely pathogenic

Condition: not provided
Alzheimer disease 3
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555355250

2 SubmittersRCV000712873 RCV001055042

NM_007126.5(VCP):c.277C>T (p.Arg93Cys)

SNV
Germline

Chr9:35067916

Pathogenic

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554669087

4 SubmittersRCV000728008 RCV002233733

NM_007126.5(VCP):c.1863C>T (p.Gly621=)

SNV
Germline

Chr9:35059634

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376510669

4 SubmittersRCV000728329 RCV001462593 RCV002406659

NM_007126.5(VCP):c.258A>G (p.Arg86=)

SNV
Germline

Chr9:35067935

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1563980979

3 SubmittersRCV000729518 RCV001408701 RCV002424743

NM_007126.5(VCP):c.1242G>A (p.Leu414=)

SNV
Germline

Chr9:35061132

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375262833

4 SubmittersRCV000729642 RCV001221457 RCV002386295

NM_007126.5(VCP):c.1488T>C (p.Pro496=)

SNV
Germline

Chr9:35060520

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1563976866

3 SubmittersRCV000730972 RCV001402342 RCV002388365

NM_007126.5(VCP):c.284G>C (p.Arg95Pro)

SNV
Germline

Chr9:35067909

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

rs_758169026

2 SubmittersRCV000731593 RCV001046936

NM_007126.5(VCP):c.340A>G (p.Ile114Val)

SNV
Germline

Chr9:35066780

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

rs_549915384

4 SubmittersRCV000733637 RCV000801185 RCV002332532 RCV004535869

NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala)

SNV
Germline

Chr14:73173591

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1566630811

1 SubmittersRCV000736265

NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr)

SNV
Unknown

Chr14:73173636

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1566630884

1 SubmittersRCV000736260

NM_000021.4(PSEN1):c.869-1G>A

SNV
Germline

Chr14:73206385

Pathogenic/Likely pathogenic

Alzheimer disease
Alzheimer disease 3
Alzheimer disease 3
Pick disease
Acne inversa, familial, 3
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

rs_63750219

4 SubmittersRCV000736261 RCV002470967 RCV002533770

NM_002087.4(GRN):c.1179G>A (p.Glu393=)

SNV
Germline

Chr17:44351795

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1567887777

1 SubmittersRCV000736255

NM_002087.4(GRN):c.1446C>A (p.Cys482Ter)

SNV
Unknown

Chr17:44352373

Pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1567888461

1 SubmittersRCV000736252

NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg)

SNV
Germline

Chr17:46018672

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1568339821

1 SubmittersRCV000736258

NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)

SNV
Germline

Chr12:64484379

Pathogenic

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1328949478

2 SubmittersRCV000760459 RCV002536579

NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)

SNV
Germline

Chr14:73173583

Likely pathogenic

Alzheimer disease 3
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566630791

3 SubmittersRCV000782176 RCV001196175

NM_031157.4(HNRNPA1):c.1018C>G (p.Pro340Ala)

SNV
Germline

Chr12:54283922

Likely pathogenic

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

Criteria Provided
Single Submitter

rs_1592173638

1 SubmittersRCV000789008

NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)

SNV
Germline

Chr17:45983468

Conflicting classifications of pathogenicity

Frontotemporal dementia
Pick disease
Progressive supranuclear ophthalmoplegia
Multiple system atrophy
Condition: not provided
MAPT-related disorder

Criteria Provided
Conflicting Classifications

rs_150983093

5 SubmittersRCV000791003 RCV000791004 RCV000791006 RCV000791005 RCV001354954 RCV003947981

NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)

SNV
Germline

Chr2:74370248

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Frontotemporal dementia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150368544

4 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838

NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)

SNV
Germline

Chr5:179833612

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

rs_1185406298

1 SubmittersRCV000795535

NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)

SNV
Germline

Chr14:73173574

Pathogenic

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

rs_63750730

1 SubmittersRCV000816670

NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)

SNV
Germline

Chr14:73192721

Likely pathogenic

Pick disease
Acne inversa, familial, 3
Alzheimer disease 3
Frontotemporal dementia

Criteria Provided
Single Submitter

rs_63750053

1 SubmittersRCV000821428

NM_001377265.1(MAPT):c.220+2503C>T

SNV
Germline

Chr17:45974448

Conflicting classifications of pathogenicity

Frontotemporal dementia
MAPT-Related Spectrum Disorders
not specified

Criteria Provided
Conflicting Classifications

rs_138293088

3 SubmittersRCV000803671 RCV001123792 RCV004526776

NM_001377265.1(MAPT):c.2184G>C (p.Gln728His)

SNV
Germline

Chr17:46018628

Pathogenic/Likely pathogenic

Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1598408073

2 SubmittersRCV000823456

NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)

SNV
Germline

Chr22:23767439

Conflicting classifications of pathogenicity

Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Inborn genetic diseases
Condition: not provided
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

rs_374211312

4 SubmittersRCV000812293 RCV002422795 RCV003145171 RCV003411792

NM_013254.4(TBK1):c.701+1G>A

SNV
Germline

Chr12:64474391

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Amyotrophic lateral sclerosis
TBK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592362719

3 SubmittersRCV000797764 RCV001843550 RCV003411753

NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)

SNV
Germline

Chr3:87240728

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Condition: not provided
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

rs_138886714

4 SubmittersRCV001148368 RCV001759655 RCV003392657

NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)

SNV
Germline

Chr5:179823047

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_537142935

2 SubmittersRCV000878251 RCV003141887

NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)

SNV
Germline

Chr5:179823884

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Condition: not provided
SQSTM1-related disorder

Criteria Provided
Conflicting Classifications

rs_139372286

3 SubmittersRCV000877000 RCV001655632 RCV004530863

NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)

SNV
Germline

Chr5:179824069

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 3
Condition: not provided
SQSTM1-related disorder

Criteria Provided
Conflicting Classifications

rs_199931327

4 SubmittersRCV000876784 RCV001151637 RCV003432850 RCV004541755

NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)

SNV
Germline

Chr5:179824197

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_567433223

5 SubmittersRCV000877928 RCV001724184

NM_000021.4(PSEN1):c.234C>T (p.Gly78=)

SNV
Germline

Chr14:73170943

Conflicting classifications of pathogenicity

Condition: not provided
Alzheimer disease 3
Dilated cardiomyopathy 1U
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143782428

5 SubmittersRCV000878970 RCV001120367 RCV001120366 RCV002539275 RCV003259007

NM_007126.5(VCP):c.732C>T (p.Tyr244=)

SNV
Germline

Chr9:35063057

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

rs_201610567

2 SubmittersRCV000946065 RCV001395321

NM_000021.4(PSEN1):c.792G>T (p.Pro264=)

SNV
Germline

Chr14:73198053

Conflicting classifications of pathogenicity

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3
Dilated cardiomyopathy 1U
Alzheimer disease 3

Criteria Provided
Conflicting Classifications

rs_150301281

2 SubmittersRCV000896851 RCV001115471 RCV001115472

NM_003900.5(SQSTM1):c.205+7G>C

SNV
Germline

Chr5:179821148

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_912066047

3 SubmittersRCV000951194 RCV003141903

NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)

SNV
Unknown

Chr1:11022538

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1570725499

1 SubmittersRCV000986235

NM_013254.4(TBK1):c.87G>A (p.Lys29=)

SNV
Germline

Chr12:64455957

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_1592350887

1 SubmittersRCV000995895

NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)

SNV
Germline

Chr12:64466969

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

rs_1027249002

2 SubmittersRCV000995896

NM_013254.4(TBK1):c.992+1G>A

SNV
Germline

Chr12:64482022

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Amyotrophic lateral sclerosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1341055534

4 SubmittersRCV000995897 RCV001196463 RCV003333118

NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)

SNV
Germline

Chr14:73192712

Pathogenic

Alzheimer disease 3
Pick disease
Acne inversa, familial, 3
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_63750082

3 SubmittersRCV000995615 RCV003769343

NM_001377265.1(MAPT):c.2266C>A (p.Pro756Thr)

SNV
Germline

Chr17:46018710

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1598408336

1 SubmittersRCV000995805

NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)

SNV
Germline

Chr5:179836481

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

rs_1247551175

1 SubmittersRCV001060204

NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)

SNV
Germline

Chr14:73173702

Conflicting classifications of pathogenicity

Pick disease
Alzheimer disease 3
Frontotemporal dementia
Acne inversa, familial, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1897961716

2 SubmittersRCV001067591 RCV003222216

NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)

SNV
Germline

Chr14:73219139

Pathogenic/Likely pathogenic

Acne inversa, familial, 3
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_63751316

2 SubmittersRCV001049005 RCV002282436

NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)

SNV
Germline

Chr5:150054386

Conflicting classifications of pathogenicity

Frontotemporal dementia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1757092904

2 SubmittersRCV001090101 RCV003558660

NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)

SNV
Germline

Chr15:61856408

Conflicting classifications of pathogenicity

Frontotemporal dementia
Primary degenerative dementia of the Alzheimer type, presenile onset
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_138846118

5 SubmittersRCV001090104 RCV002223989 RCV003490062

NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter)

SNV
Germline

Chr19:1058155

Likely pathogenic; risk factor

Frontotemporal dementia
Primary degenerative dementia of the Alzheimer type, presenile onset
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_770510230

2 SubmittersRCV001090095 RCV002223988

NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)

SNV
Germline

Chr3:87245793

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Criteria Provided
Conflicting Classifications

rs_200792883

3 SubmittersRCV001092352 RCV001241565

NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)

SNV
Germline

Chr1:11022302

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_1643653768

2 SubmittersRCV001095402 RCV002555973

NM_007126.5(VCP):c.572G>C (p.Arg191Pro)

SNV
Germline

Chr9:35065255

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_121909334

2 SubmittersRCV001095426 RCV003769035

NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)

SNV
Germline

Chr12:57582614

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1882640177

2 SubmittersRCV001095391 RCV002555972

NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)

SNV
Germline

Chr12:64481951

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1284582102

2 SubmittersRCV001095423

NM_007375.4(TARDBP):c.36C>T (p.Asn12=)

SNV
Germline

Chr1:11013763

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_565091566

3 SubmittersRCV001099682 RCV002067757 RCV002348556

NM_007375.4(TARDBP):c.57A>G (p.Pro19=)

SNV
Germline

Chr1:11013784

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_532319219

2 SubmittersRCV001099683 RCV002554944

NM_007375.4(TARDBP):c.963C>T (p.Ala321=)

SNV
Germline

Chr1:11022372

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_547979470

2 SubmittersRCV001096236 RCV002557978

NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys)

SNV
Germline

Chr17:45962350

Conflicting classifications of pathogenicity

MAPT-Related Spectrum Disorders
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_766166210

2 SubmittersRCV001123790 RCV001856632

NM_001377265.1(MAPT):c.1801C>T (p.Arg601Cys)

SNV
Germline

Chr17:45996467

Conflicting classifications of pathogenicity

MAPT-Related Spectrum Disorders
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_138984221

2 SubmittersRCV001128499 RCV001856676

NM_001377265.1(MAPT):c.2319C>T (p.Asn773=)

SNV
Germline

Chr17:46023988

Conflicting classifications of pathogenicity

MAPT-Related Spectrum Disorders
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_746312281

2 SubmittersRCV001122794 RCV003629149

NM_001377265.1(MAPT):c.2173+9G>C

SNV
Germline

Chr17:46014333

Conflicting classifications of pathogenicity

MAPT-Related Spectrum Disorders
Frontotemporal dementia
MAPT-related disorder

Criteria Provided
Conflicting Classifications

rs_979650971

3 SubmittersRCV001122793 RCV002070007 RCV003918711

NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)

SNV
Germline

Chr3:87240720

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

rs_200322526

4 SubmittersRCV001148367 RCV003953530

NM_014043.4(CHMP2B):c.531+8C>T

SNV
Germline

Chr3:87253518

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Criteria Provided
Conflicting Classifications

rs_374796686

2 SubmittersRCV001149929

NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)

SNV
Germline

Chr5:179824018

Conflicting classifications of pathogenicity

Paget disease of bone 3
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Conflicting Classifications

rs_775988188

2 SubmittersRCV001151636 RCV001343979

NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)

SNV
Germline

Chr5:179824265

Conflicting classifications of pathogenicity

Paget disease of bone 3
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Conflicting Classifications

rs_771036207

2 SubmittersRCV001151638 RCV002070838

NM_007126.5(VCP):c.384T>C (p.Gly128=)

SNV
Germline

Chr9:35066736

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
VCP-related disorder

Criteria Provided
Conflicting Classifications

rs_367703031

3 SubmittersRCV001168238 RCV001168239 RCV002067829 RCV004545096

NM_007126.5(VCP):c.*1040T>C

SNV
Germline

Chr9:35056077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_188935092

2 SubmittersRCV001165910 RCV001165911 RCV002264211

NM_007126.5(VCP):c.446-4G>A

SNV
Germline

Chr9:35065385

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_370700002

2 SubmittersRCV001168237 RCV001168236 RCV001873558

NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)

SNV
Germline

Chr1:11022371

Likely pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Single Submitter

rs_1304706298

1 SubmittersRCV001207766

NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)

SNV
Germline

Chr1:11022541

Likely pathogenic

TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

rs_1557660662

1 SubmittersRCV001208497

NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)

SNV
Germline

Chr14:73171017

Likely pathogenic

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

rs_1897876766

1 SubmittersRCV001230382

NM_007126.5(VCP):c.294T>A (p.Asp98Glu)

SNV
Germline

Chr9:35067899

Likely pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Criteria Provided
Single Submitter

rs_1828864269

1 SubmittersRCV001253196

NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)

SNV
Germline

Chr14:73170972

Pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1897874329

1 SubmittersRCV001261949

NM_007126.5(VCP):c.1184A>G (p.Asp395Gly)

SNV
Germline

Chr9:35061587

Pathogenic

FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES

No Assertion Criteria Provided

rs_1828721782

1 SubmittersRCV001271084

NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)

SNV
Germline

Chr16:2455540

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Condition: not provided

Criteria Provided
Single Submitter

rs_778264897

2 SubmittersRCV001281085 RCV003426024

NM_001761.3(CCNF):c.585T>G (p.Ser195Arg)

SNV
Germline

Chr16:2438114

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5

No Assertion Criteria Provided

rs_1371569927

1 SubmittersRCV001281086

NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr)

SNV
Germline

Chr16:2448935

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5

No Assertion Criteria Provided

rs_954539468

1 SubmittersRCV001281087

NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys)

SNV
Germline

Chr16:2455549

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5

No Assertion Criteria Provided

rs_771621178

1 SubmittersRCV001281088

NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)

SNV
Germline

Chr2:70212795

Conflicting classifications of pathogenicity

AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA
Welander distal myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757332023

3 SubmittersRCV001281089 RCV001365839 RCV003132375

NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)

SNV
Germline

Chr16:50791604

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Single Submitter

rs_1971438573

2 SubmittersRCV001281091

NM_003900.5(SQSTM1):c.302-4G>A

SNV
Germline

Chr5:179823854

Conflicting classifications of pathogenicity

Condition: not provided
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Conflicting Classifications

rs_1757883398

2 SubmittersRCV001288015 RCV002069539

NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)

SNV
Germline

Chr14:73192840

Pathogenic/Likely pathogenic

Condition: not provided
Pick disease
Alzheimer disease 3
Frontotemporal dementia
Acne inversa, familial, 3
PSEN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1362575880

3 SubmittersRCV001289155 RCV001378264 RCV003918832

NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)

SNV
Germline

Chr14:73219194

Conflicting classifications of pathogenicity

Condition: not provided
Pick disease
Alzheimer disease 3
Acne inversa, familial, 3
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_764971634

3 SubmittersRCV001289154 RCV001871727

NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr12:64485995

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

No Assertion Criteria Provided

rs_769588220

1 SubmittersRCV001291944

NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)

SNV
Germline

Chr5:179820937

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1302810798

3 SubmittersRCV001319264 RCV001563679 RCV002473267

NM_000021.4(PSEN1):c.338+7A>G

SNV
Germline

Chr14:73171054

Likely pathogenic

Frontotemporal dementia
Alzheimer disease 3
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

rs_1897878139

1 SubmittersRCV001326693

NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)

SNV
Germline

Chr12:64484463

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_765106259

2 SubmittersRCV001328679

NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)

SNV
Germline

Chr3:87240752

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

rs_139894940

3 SubmittersRCV001354452 RCV002070222 RCV003953681

NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)

SNV
Germline

Chr5:179822996

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

rs_1425863340

1 SubmittersRCV001390972

NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)

SNV
Germline

Chr5:179836480

Pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
SQSTM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_771966860

2 SubmittersRCV001383720 RCV004528496

NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter)

SNV
Germline

Chr12:64497234

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136088420

1 SubmittersRCV001388492

NM_007126.5(VCP):c.446-5C>T

SNV
Germline

Chr9:35065386

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_541980846

2 SubmittersRCV001394423 RCV002329415

NM_213720.3(CHCHD10):c.42-5C>T

SNV
Germline

Chr22:23767598

Conflicting classifications of pathogenicity

Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_868345557

2 SubmittersRCV001395837 RCV002329417

NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)

SNV
Germline

Chr5:179833185

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143746604

2 SubmittersRCV001422431 RCV003317495

NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)

SNV
Germline

Chr5:179836543

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

rs_757212984

3 SubmittersRCV001508538 RCV001882557

NM_018965.4(TREM2):c.594G>A (p.Trp198Ter)

SNV
Germline

Chr6:41158955

Pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1765488318

1 SubmittersRCV001810084

NM_002137.4(HNRNPA2B1):c.965G>A (p.Gly322Glu)

SNV
Unknown

Chr7:26192577

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

rs_1783018501

1 SubmittersRCV001810078

NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)

SNV
Germline

Chr14:73198043

Conflicting classifications of pathogenicity

Alzheimer disease 3
Condition: not provided
Alzheimer disease 3
Frontotemporal dementia
Acne inversa, familial, 3
Pick disease

Criteria Provided
Conflicting Classifications

rs_199723282

3 SubmittersRCV001810075 RCV002473293 RCV002568920

NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)

SNV
Germline

Chr14:73219164

Conflicting classifications of pathogenicity

Alzheimer disease 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3
Acne inversa, familial, 3

Criteria Provided
Conflicting Classifications

rs_1398951357

2 SubmittersRCV001810077 RCV001873794

NM_007126.5(VCP):c.18-4C>G

SNV
Germline

Chr9:35068366

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_1563981227

2 SubmittersRCV001663535 RCV002538570

NM_013254.4(TBK1):c.1207C>T (p.His403Tyr)

SNV
Germline

Chr12:64485472

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

rs_749709445

2 SubmittersRCV001755326 RCV002540614

NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)

SNV
Germline

Chr5:179833671

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765610848

2 SubmittersRCV001868769 RCV003238467

NM_007126.5(VCP):c.1460G>A (p.Arg487His)

SNV
Germline

Chr9:35060823

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_767379602

4 SubmittersRCV001816505 RCV003772278

NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)

SNV
Germline

Chr12:64464454

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_757203783

2 SubmittersRCV001825077

NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg)

SNV
Unknown

Chr10:13110343

Likely pathogenic

Frontotemporal dementia

No Assertion Criteria Provided

rs_1452457006

1 SubmittersRCV001848606

NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)

SNV
Unknown

Chr15:78635465

Likely pathogenic

Frontotemporal dementia

No Assertion Criteria Provided

rs_2141385401

1 SubmittersRCV001848608

NM_000750.5(CHRNB4):c.658G>A (p.Val220Met)

SNV
Unknown

Chr15:78629647

Likely pathogenic

Frontotemporal dementia

No Assertion Criteria Provided

rs_774714066

1 SubmittersRCV001848609

NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)

SNV
Unknown

Chr16:2437155

Likely pathogenic

Frontotemporal dementia

No Assertion Criteria Provided

rs_376056912

1 SubmittersRCV001848611

NM_013254.4(TBK1):c.1189+1G>T

SNV
Germline

Chr12:64484500

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136078402

1 SubmittersRCV002039154

NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)

SNV
Germline

Chr14:73211942

Pathogenic

Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

rs_1555357544

1 SubmittersRCV002014803

NM_007126.5(VCP):c.273C>A (p.Asn91Lys)

SNV
Germline

Chr9:35067920

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

rs_1563980966

1 SubmittersRCV002015462

NM_013254.4(TBK1):c.1189+1G>A

SNV
Germline

Chr12:64484500

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136078402

1 SubmittersRCV002019738

NM_213720.3(CHCHD10):c.42-5C>G

SNV
Germline

Chr22:23767598

Conflicting classifications of pathogenicity

Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

rs_868345557

2 SubmittersRCV001987738 RCV003395311

NM_003900.5(SQSTM1):c.970-2A>G

SNV
Germline

Chr5:179833585

Likely pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Single Submitter

rs_2113512370

1 SubmittersRCV001977620

NM_007126.5(VCP):c.472A>G (p.Met158Val)

SNV
Germline

Chr9:35065355

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Single Submitter

rs_1554668813

1 SubmittersRCV001953725

NM_007126.5(VCP):c.469G>A (p.Gly157Arg)

SNV
Germline

Chr9:35065358

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Single Submitter

rs_1554668814

1 SubmittersRCV001972632

NM_007126.5(VCP):c.463C>A (p.Arg155Ser)

SNV
Germline

Chr9:35065364

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Single Submitter

rs_121909330

1 SubmittersRCV001949225

NM_002137.4(HNRNPA2B1):c.893C>T (p.Pro298Leu)

SNV
Germline

Chr7:26193322

Likely pathogenic

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

Criteria Provided
Single Submitter

rs_2128109836

1 SubmittersRCV002010797

NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)

SNV
Germline

Chr5:179833782

Pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Single Submitter

rs_1391182750

1 SubmittersRCV001949681

NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)

SNV
Germline

Chr17:45962417

Conflicting classifications of pathogenicity

Frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_769331823

2 SubmittersRCV001921514 RCV002560453

NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln)

SNV
Germline

Chr12:64484380

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_758357594

1 SubmittersRCV002000195

NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)

SNV
Germline

Chr14:73192845

Pathogenic

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

rs_1898781850

1 SubmittersRCV002037964

NM_000021.4(PSEN1):c.640C>A (p.His214Asn)

SNV
Germline

Chr14:73192735

Pathogenic

Alzheimer disease 3
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

Criteria Provided
Single Submitter

rs_63751003

1 SubmittersRCV001900646

NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)

SNV
Germline

Chr12:64486012

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136079548

1 SubmittersRCV001901321

NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys)

SNV
Germline

Chr14:73198099

Pathogenic

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

rs_2140105309

1 SubmittersRCV001949489

NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)

SNV
Germline

Chr5:179836501

Pathogenic/Likely pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Myopathy, distal, with rimmed vacuoles

Criteria Provided
Multiple Submitters
No Conflicts

rs_143511494

2 SubmittersRCV001972785 RCV003147715 RCV003333197

NM_007126.5(VCP):c.284G>A (p.Arg95His)

SNV
Germline

Chr9:35067909

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

rs_758169026

1 SubmittersRCV002018336

NM_003900.5(SQSTM1):c.301+1G>T

SNV
Germline

Chr5:179823054

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

rs_2113485289

1 SubmittersRCV001908192

NM_014043.4(CHMP2B):c.321+3A>G

SNV
Germline

Chr3:87245911

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

rs_989392144

2 SubmittersRCV001931937 RCV003892183

NM_013254.4(TBK1):c.125A>G (p.Asn42Ser)

SNV
Germline

Chr12:64460226

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748061846

2 SubmittersRCV001948003 RCV003992581

NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)

SNV
Germline

Chr14:73192840

Likely pathogenic

Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

rs_1362575880

1 SubmittersRCV001980594

NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)

SNV
Germline

Chr14:73219262

Conflicting classifications of pathogenicity

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3
Alzheimer disease 3
Frontotemporal dementia
Pick disease
Dilated cardiomyopathy 1U
Acne inversa, familial, 3
PSEN1-related disorder

Criteria Provided
Conflicting Classifications

rs_201496204

3 SubmittersRCV002043451 RCV002486747 RCV003913489

NM_007126.5(VCP):c.2161-4A>G

SNV
Germline

Chr9:35057534

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1260699314

2 SubmittersRCV002092372 RCV002427525

NM_013254.4(TBK1):c.813-7A>C

SNV
Germline

Chr12:64481835

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8

Criteria Provided
Conflicting Classifications

rs_376075252

2 SubmittersRCV002091831 RCV003224616

NM_013254.4(TBK1):c.2139-7G>A

SNV
Germline

Chr12:64501323

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

rs_534404556

2 SubmittersRCV002153421

NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)

SNV
Germline

Chr14:73170854

Conflicting classifications of pathogenicity

Alzheimer disease 3
Pick disease
Acne inversa, familial, 3
Frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200373970

2 SubmittersRCV002088756 RCV003007081

NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter)

SNV
Germline

Chr12:64497666

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136088954

1 SubmittersRCV002272614

NM_013254.4(TBK1):c.352G>A (p.Asp118Asn)

SNV
Germline

Chr12:64464457

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002283871

NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)

SNV
Germline

Chr12:64497044

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002471876

NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)

SNV
Germline

Chr5:179836477

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002474117 RCV002571508 RCV004064255

NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)

SNV
Germline

Chr12:64455874

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003058387

NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)

SNV
Germline

Chr12:64490094

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003062524

NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)

SNV
Germline

Chr14:73173654

Likely pathogenic

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003062642

NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)

SNV
Germline

Chr14:73173703

Pathogenic

Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003062643

NM_007126.5(VCP):c.466G>A (p.Gly156Ser)

SNV
Germline

Chr9:35065361

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Single Submitter

1 SubmittersRCV003037322

NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)

SNV
Germline

Chr1:11022538

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003089575 RCV003420327

NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)

SNV
Germline

Chr5:179833178

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

1 SubmittersRCV003090306

NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)

SNV
Germline

Chr5:179824007

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003328713 RCV003090091

NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)

SNV
Germline

Chr1:11022532

Likely pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Single Submitter

1 SubmittersRCV002664150

NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)

SNV
Germline

Chr14:73192861

Pathogenic

Alzheimer disease 3
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

Criteria Provided
Single Submitter

1 SubmittersRCV003112298

NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)

SNV
Germline

Chr14:73198106

Pathogenic

Alzheimer disease 3
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

Criteria Provided
Single Submitter

1 SubmittersRCV002601742

NM_003900.5(SQSTM1):c.205+2T>C

SNV
Germline

Chr5:179821143

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

1 SubmittersRCV002780902

NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)

SNV
Germline

Chr14:73170961

Likely pathogenic

Alzheimer disease 3
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Single Submitter

1 SubmittersRCV002824042

NM_013254.4(TBK1):c.1443-1G>T

SNV
Germline

Chr12:64490040

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002834874

NM_013254.4(TBK1):c.1341-1G>C

SNV
Germline

Chr12:64488486

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002863152

NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)

SNV
Germline

Chr12:64481973

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002863800

NM_013254.4(TBK1):c.1644-2A>T

SNV
Germline

Chr12:64495697

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002847242

NM_007126.5(VCP):c.382G>A (p.Gly128Ser)

SNV
Germline

Chr9:35066738

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

1 SubmittersRCV002876342

NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)

SNV
Germline

Chr14:73170983

Pathogenic

Pick disease
Frontotemporal dementia
Alzheimer disease 3
Acne inversa, familial, 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002876347 RCV003222446

NM_001377265.1(MAPT):c.2091+16C>G

SNV
Germline

Chr17:46010418

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

1 SubmittersRCV002914169

NM_013254.4(TBK1):c.701+2T>G

SNV
Germline

Chr12:64474392

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002927416

NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)

SNV
Germline

Chr5:179833097

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

1 SubmittersRCV003002562

NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)

SNV
Germline

Chr12:64485982

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003019974

NM_001377265.1(MAPT):c.2266C>T (p.Pro756Ser)

SNV
Unknown

Chr17:46018710

Pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

1 SubmittersRCV003315208

NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)

SNV
Germline

Chr14:73170804

Conflicting classifications of pathogenicity

not specified
Alzheimer disease 3
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003324115 RCV003777345

NM_007126.5(VCP):c.766C>G (p.Arg256Gly)

SNV
Germline

Chr9:35063023

Likely pathogenic

Childhood Onset VCP-related Neurodevelopmental Disorder
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Charcot-Marie-Tooth disease type 2Y

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003333707 RCV003883215

NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)

SNV
Germline

Chr14:73198040

Conflicting classifications of pathogenicity

Condition: not provided
Alzheimer disease 3
Pick disease
Acne inversa, familial, 3
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003482814 RCV003779232

NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)

SNV
Germline

Chr12:64480058

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003590404

NM_013254.4(TBK1):c.1863-1G>A

SNV
Germline

Chr12:64497162

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003754704

NM_013254.4(TBK1):c.1960-2A>T

SNV
Germline

Chr12:64497646

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003754685

NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)

SNV
Germline

Chr12:64460202

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003753864

NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)

SNV
Germline

Chr14:73219191

Conflicting classifications of pathogenicity

Pick disease
Acne inversa, familial, 3
Frontotemporal dementia
Alzheimer disease 3
Alzheimer disease 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003785387 RCV003994584

NM_007126.5(VCP):c.1696-3C>T

SNV
Germline

Chr9:35059804

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
VCP-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003782425 RCV004539134

NM_000021.4(PSEN1):c.250A>G (p.Met84Val)

SNV
Germline

Chr14:73170959

Pathogenic

Acne inversa, familial, 3
Pick disease
Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Single Submitter

1 SubmittersRCV003783616

NM_000021.4(PSEN1):c.869-2A>G

SNV
Germline

Chr14:73206384