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.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/Likely pathogenic	Brooke-Spiegler syndrome Familial cylindromatosis Familial multiple trichoepitheliomata Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Familial cylindromatosis Brooke-Spiegler syndrome Trichoepithelioma, multiple familial, 1 Condition: not provided Multiple monogenic benign skin tumours	Criteria Provided Multiple Submitters No Conflicts	CA214928	rs_121908390	6 SubmittersRCV000005575 RCV000005573 RCV000005574 RCV002496269 RCV005089180 RCV006268069
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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Paget disease of bone 3 Condition: not provided Spastic paraplegia-Paget disease of bone syndrome Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Bone Paget disease SQSTM1-related multisystem proteinopathy Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Criteria Provided Conflicting Classifications	CA203866	rs_104893941	18 SubmittersRCV000008576 RCV000184063 RCV000477939 RCV000490214 RCV000824803 RCV001084507 RCV002508916 RCV005249984 RCV006249552 RCV006688335
NM_003900.5(SQSTM1):c.1165+1G>A	SNV Germline	Chr5:179833783	Pathogenic	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset 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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA128983	rs_121909329	13 SubmittersRCV000008989 RCV000540496 RCV000523065 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	8 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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA254402	rs_121909332	2 SubmittersRCV000008992 RCV005222674
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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 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 Charcot-Marie-Tooth disease type 2Y Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts	CA254406	rs_121909334	14 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	14 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 MAPT-related disorder Supranuclear palsy, progressive, 1 Frontotemporal dementia Supranuclear palsy, progressive, 1 Pick disease Parkinson disease, late-onset Progressive supranuclear palsy-parkinsonism syndrome	Criteria Provided Multiple Submitters No Conflicts	CA225444	rs_63751273	14 SubmittersRCV000015313 RCV000084527 RCV000763405 RCV003407335 RCV002508757 RCV004795415
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 Frontotemporal dementia Supranuclear palsy, progressive, 1 Pick disease Parkinson disease, late-onset Progressive supranuclear palsy-parkinsonism syndrome MAPT-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA225495	rs_63750424	13 SubmittersRCV000015316 RCV000084554 RCV002476970 RCV004742226
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	CA399983396	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 Multiple Submitters No Conflicts	CA225483	rs_63750570	4 SubmittersRCV000015321 RCV000084548
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)	SNV Germline	Chr17:46010324	Pathogenic	Frontotemporal dementia Condition: not provided Progressive supranuclear ophthalmoplegia Frontotemporal dementia Pick disease Parkinson disease, late-onset Progressive supranuclear palsy-parkinsonism syndrome	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	Criteria Provided Single Submitter	CA225453	rs_63751165	3 SubmittersRCV000015323 RCV000084530
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)	SNV Germline	Chr17:46024010	Pathogenic/Likely pathogenic	Pick disease Condition: not provided Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA257189	rs_63750512	4 SubmittersRCV000015324 RCV000517183 RCV001851871
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)	SNV Germline	Chr17:46010388	Likely pathogenic	Frontotemporal dementia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA225439	rs_63751438	4 SubmittersRCV000015325 RCV000084526
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)	SNV Germline	Chr17:46010375	Pathogenic	Frontotemporal dementia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA225434	rs_63750912	5 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA257191	rs_63750959	4 SubmittersRCV000015330 RCV004700240
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 Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341490	rs_63750306	6 SubmittersRCV000019751 RCV001248367 RCV003105774
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	SNV Germline	Chr14:73186860	Pathogenic	Alzheimer disease 3 Condition: not provided Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Dilated cardiomyopathy 1U Pick disease 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 Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA225104	rs_63750526	6 SubmittersRCV000019753 RCV000084361 RCV000542870
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)	SNV Germline	Chr14:73217225	Pathogenic	Alzheimer disease 3 Condition: not provided Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	Criteria Provided Single Submitter	CA225174	rs_661	3 SubmittersRCV000019755 RCV000084407 RCV000640605
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)	SNV Germline	Chr14:73173642	Pathogenic	Alzheimer disease 3 Condition: not provided Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA225015	rs_63751037	9 SubmittersRCV000019756 RCV000084304 RCV003764610
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)	SNV Germline	Chr14:73198100	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	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 Frontotemporal dementia Alzheimer disease 3 Pick disease	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	Pathogenic/Likely pathogenic	Alzheimer disease 3 Condition: not provided Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Dilated cardiomyopathy 1U Pick disease Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA225181	rs_63751223	6 SubmittersRCV000019766 RCV000084411 RCV000763348 RCV005222695
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	SNV Germline	Chr14:73192712	Pathogenic	Alzheimer disease 3 Condition: not provided Frontotemporal dementia Acne inversa, familial, 3 Pick disease Alzheimer disease 3 Dilated cardiomyopathy 1U Frontotemporal dementia Acne inversa, familial, 3 Pick disease Alzheimer disease 3 PSEN1-related disorder Autosomal dominant PSEN1-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA258122	rs_63750082	11 SubmittersRCV000019773 RCV000518563 RCV000640609 RCV002482890 RCV004752714 RCV006694422
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	SNV Germline	Chr14:73171047	Likely pathogenic	Frontotemporal dementia Alzheimer disease 3 Condition: not provided Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA224998	rs_63751399	5 SubmittersRCV000019775 RCV000020084 RCV000084292 RCV001228362
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 Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease 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 Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	Criteria Provided Single Submitter	CA225129	rs_63749891	3 SubmittersRCV000019782 RCV000084379 RCV002513126
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)	SNV Germline	Chr14:73170963	Pathogenic/Likely pathogenic	Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Condition: not provided Frontotemporal dementia Alzheimer disease 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA127841	rs_63750599	4 SubmittersRCV000019783 RCV000084284 RCV005409602
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	SNV Germline	Chr14:73219177	Pathogenic	Alzheimer disease 3 Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Dilated cardiomyopathy 1U Pick disease Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA341492	rs_63750083	12 SubmittersRCV000019785 RCV000517533 RCV000640606 RCV005003398
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)	SNV Germline	Chr14:73211811	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U Primary dilated cardiomyopathy Heart failure Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease not specified	Criteria Provided Conflicting Classifications	CA258124	rs_121917809	4 SubmittersRCV000019786 RCV000171844 RCV000877625 RCV006436392
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	SNV Germline	Chr14:73170945	Pathogenic	Alzheimer disease 3 Condition: not provided Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Dementia	Criteria Provided Multiple Submitters No Conflicts	CA224983	rs_63749824	7 SubmittersRCV000019787 RCV000084281 RCV000529477 RCV005234786
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)	SNV Germline	Chr14:73192744	Likely pathogenic	Alzheimer disease, familial, 3, with unusual plaques Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA127843	rs_267606983	3 SubmittersRCV000019789 RCV001377214 RCV005406754
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)	SNV Germline	Chr14:73217171	Pathogenic	Alzheimer disease 3 Condition: not provided Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	Criteria Provided Single Submitter	CA225168	rs_63750218	3 SubmittersRCV000020082 RCV000084403 RCV002514122
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)	SNV Germline	Chr14:73192792	Pathogenic/Likely pathogenic	Alzheimer disease 3 Condition: not provided Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA341527	rs_63751287	6 SubmittersRCV000020086 RCV000712874 RCV000818883
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 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Amyotrophic lateral sclerosis type 10 TARDBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150788	rs_367543041	8 SubmittersRCV000020663 RCV000106321 RCV000413910 RCV002513146 RCV003944833
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 Inborn genetic diseases FUS-related disorder Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA130060	rs_186547381	9 SubmittersRCV000030718 RCV000765290 RCV000711709 RCV001847624 RCV002381274 RCV003407373 RCV003993752
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)	SNV Germline	Chr14:73198067	Pathogenic	Alzheimer disease 4 Condition: not provided Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA225122	rs_63750900	6 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 Spastic paraparesis Dysarthria Gait ataxia Cerebral cortical atrophy Intellectual disability Spastic ataxia Sensorimotor neuropathy SPG7-related disorder Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Uterine corpus endometrial carcinoma Retinal dystrophy Ovarian serous cystadenocarcinoma Thymoma Thyroid cancer, nonmedullary, 1 Melanoma Acute myeloid leukemia Clear cell carcinoma of kidney Sarcoma Hepatocellular carcinoma Cervical cancer Optic neuropathy Uveal melanoma Gastric cancer Lung cancer Familial cancer of breast Possible mitochondrial disorder - nuclear genes Mitochondrial DNA maintenance disorder	Criteria Provided Multiple Submitters No Conflicts	CA090884	rs_61755320	73 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000850200 RCV001003619 RCV003421943 RCV002463623 RCV005888966 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV006700620 RCV006700621
NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val)	SNV Germline	Chr12:54283845	Likely pathogenic	Condition: not provided Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	Criteria Provided Single Submitter	CA144797	rs_397518452	2 SubmittersRCV001781388 RCV000055649
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	5 SubmittersRCV000058956 RCV000409776 RCV001090098
NM_014043.4(CHMP2B):c.532-1G>C	SNV Germline	Chr3:87253711	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Cervical cancer Condition: not provided	No Assertion Criteria Provided	CA224977	rs_63750652	3 SubmittersRCV002055246 RCV005887701 RCV000084277
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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease Alzheimer disease 3 Dilated cardiomyopathy 1U not specified	Criteria Provided Conflicting Classifications	CA224981	rs_63750592	7 SubmittersRCV000084280 RCV000172094 RCV000640608 RCV001120058 RCV001120057 RCV004800279
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)	SNV Germline	Chr14:73173571	Pathogenic/Likely pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA225002	rs_63750450	6 SubmittersRCV000084295 RCV000640610 RCV001199924
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)	SNV Germline	Chr14:73173574	Pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Single Submitter	CA225005	rs_63750550	2 SubmittersRCV000084297 RCV002514494
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu)	SNV Germline	Chr14:73173577	Pathogenic/Likely pathogenic	Condition: not provided Alzheimer disease 3 Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA225007	rs_63749805	3 SubmittersRCV000084298 RCV002272062 RCV005222747
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)	SNV Germline	Chr14:73173630	Likely pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease 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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease 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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	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/Likely pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA225045	rs_63751210	3 SubmittersRCV000084325 RCV002513897 RCV006263661
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)	SNV Germline	Chr14:73186884	Pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA225057	rs_63749806	3 SubmittersRCV000084333 RCV002513898 RCV004813056
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)	SNV Germline	Chr14:73192647	Pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	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 Dilated cardiomyopathy 1U Acne inversa, familial, 3 Frontotemporal dementia Pick disease	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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Single Submitter	CA225110	rs_63751420	2 SubmittersRCV000084365 RCV003764779
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)	SNV Germline	Chr14:73198047	Pathogenic/Likely pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3 Alzheimer disease 3 Autosomal dominant PSEN1-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA225113	rs_63750248	8 SubmittersRCV000084367 RCV005222748 RCV004783741 RCV006694444
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)	SNV Germline	Chr14:73198052	Pathogenic/Likely pathogenic	Condition: not provided Dementia Mental deterioration Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA225117	rs_63750301	7 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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA225119	rs_63750779	4 SubmittersRCV000084372 RCV001261442 RCV002514496
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val)	SNV Germline	Chr14:73198115	Pathogenic	Condition: not provided Early-onset autosomal dominant Alzheimer disease Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA225140	rs_63751139	3 SubmittersRCV000084386 RCV001808319 RCV005222749
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)	SNV Germline	Chr14:73217170	Pathogenic	Condition: not provided Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA225167	rs_63751416	4 SubmittersRCV000084402 RCV002513899
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val)	SNV Germline	Chr14:73217177	Pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	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 Acne inversa, familial, 3 Frontotemporal dementia Pick disease Alzheimer disease 3	Criteria Provided Conflicting Classifications	CA225173	rs_63750227	4 SubmittersRCV000084406 RCV000811198 RCV004767067
NM_000021.4(PSEN1):c.1271T>G (p.Leu424Arg)	SNV Germline	Chr14:73219156	Pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Single Submitter	CA225179	rs_63751032	2 SubmittersRCV000084410 RCV006555433
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)	SNV Germline	Chr14:73219177	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Conflicting Classifications	CA225182	rs_63750083	4 SubmittersRCV000084412 RCV002288582 RCV005222750
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 MAPT-related disorder Progressive supranuclear palsy-parkinsonism syndrome	Criteria Provided Conflicting Classifications	CA225409	rs_63750096	9 SubmittersRCV000084513 RCV000325065 RCV000805364 RCV003935077 RCV003993800
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+3G>A	SNV Germline	Chr17:46010405	Pathogenic	Condition: not provided Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA225460	rs_63750013	4 SubmittersRCV000084532 RCV005089559
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 Mental deterioration Frontotemporal dementia Memory impairment Dementia Frontotemporal dementia MAPT-related disorder Progressive supranuclear palsy-parkinsonism syndrome Adult onset neurodegenerative disorder Adult onset hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA225465	rs_63751011	15 SubmittersRCV000084537 RCV000626753 RCV000626752 RCV000687510 RCV003415858 RCV004593990 RCV006629077 RCV006742281
NM_001377265.1(MAPT):c.2091+19C>G	SNV Germline	Chr17:46010421	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA225466	rs_63750162	4 SubmittersRCV000084538 RCV005089560
NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser)	SNV Germline	Chr17:46018623	Pathogenic/Likely pathogenic	Condition: not provided Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA225477	rs_63750095	3 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	7 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 Frontotemporal dementia Inborn genetic diseases Familial sleep-related hypermotor epilepsy	Criteria Provided Conflicting Classifications	CA150420	rs_121912282	7 SubmittersRCV000084610 RCV000513088 RCV001847655 RCV002513908 RCV006647757
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 Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia 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	6 SubmittersRCV000128857 RCV000192232 RCV001268565
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)	SNV Germline	Chr22:23767591	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant mitochondrial myopathy with exercise intolerance Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Lower motor neuron syndrome with late-adult onset Autosomal dominant mitochondrial myopathy with exercise intolerance Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA235291	rs_730880030	5 SubmittersRCV000157069 RCV000804540 RCV001731147 RCV002463652
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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset SQSTM1-related disorder	Criteria Provided Conflicting Classifications	CA203868	rs_776749939	4 SubmittersRCV000184065 RCV000481808 RCV001323701 RCV004734809
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	Criteria Provided Single Submitter	CA6669037	rs_767898276	2 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	Frontotemporal dementia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Condition: not provided Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Multiple Submitters No Conflicts	CA275539	rs_63749817	8 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 Autosomal dominant mitochondrial myopathy with exercise intolerance Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Lower motor neuron syndrome with late-adult onset Condition: not provided Lower motor neuron syndrome with late-adult onset Amyotrophic lateral sclerosis Inborn genetic diseases CHCHD10-related disorder	Criteria Provided Conflicting Classifications	CA347297	rs_775332895	9 SubmittersRCV000192233 RCV000558062 RCV001092755 RCV000990378 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 Cervical cancer	Criteria Provided Conflicting Classifications	CA3600374	rs_200396166	10 SubmittersRCV000184066 RCV000652548 RCV001155398 RCV001636735 RCV002518539 RCV003387820 RCV005891082
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 TIA1-related disorder Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	Criteria Provided Conflicting Classifications	CA1697407	rs_116621885	7 SubmittersRCV000250393 RCV000516506 RCV000859341 RCV003891965 RCV003989508
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	11 SubmittersRCV000242491 RCV000535702 RCV000625252 RCV001154682 RCV001576573
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)	SNV Germline	Chr14:73211830	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1U Alzheimer disease 3 Pick disease Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Condition: not provided	Criteria Provided Conflicting Classifications	CA7256904	rs_201776669	6 SubmittersRCV000245357 RCV000285032 RCV000342174 RCV000861613 RCV001528384
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)	SNV Germline	Chr5:179823038	Pathogenic	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	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 TBK1-related disorder not specified Autoinflammation with arthritis and vasculitis Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA6668820	rs_55824172	6 SubmittersRCV000492091 RCV001855019 RCV004745316 RCV005238811 RCV005396861 RCV006434429
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	SNV Germline	Chr12:64481858	Conflicting classifications of pathogenicity	Motor neuron disease Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 not specified	Criteria Provided Conflicting Classifications	CA238264724	rs_905184241	4 SubmittersRCV000492371 RCV000520272 RCV001855020 RCV006263816
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 Brooke-Spiegler syndrome Familial cylindromatosis Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Trichoepithelioma, multiple familial, 1 Multiple monogenic benign skin tumours Brooke-Spiegler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10590069	rs_886040872	8 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV003469207 RCV005016661 RCV006456915 RCV006554511
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 SLC35A2-congenital disorder of glycosylation Condition: not provided Multiple monogenic benign skin tumours	Criteria Provided Multiple Submitters No Conflicts	CA10590086	rs_886040888	6 SubmittersRCV000257977 RCV002466483 RCV003469208 RCV005861098 RCV006462287 RCV006648395
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	7 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 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Spastic paraplegia Inborn genetic diseases VCP-related disorder Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications	CA10603200	rs_121909332	10 SubmittersRCV000280148 RCV000761344 RCV001095441 RCV001215048 RCV001391611 RCV002436094 RCV004734912 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 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 not specified Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications	CA5039215	rs_147623367	13 SubmittersRCV000321351 RCV001081085 RCV001168925 RCV001168167 RCV001580089 RCV002401981 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	10 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA2500938	rs_192188850	5 SubmittersRCV000390491 RCV000516998 RCV003401367 RCV006277810
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA3600618	rs_140341924	3 SubmittersRCV000293194 RCV001365629 RCV005632381
NM_007126.5(VCP):c.1360-6T>C	SNV Germline	Chr9:35060929	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	Criteria Provided Conflicting Classifications	CA5039263	rs_370296303	2 SubmittersRCV000299794 RCV003766109 RCV000354748
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_000021.4(PSEN1):c.21G>A (p.Pro7=)	SNV Germline	Chr14:73148040	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3	Criteria Provided Conflicting Classifications	CA7256643	rs_116466962	2 SubmittersRCV000300122 RCV000406851 RCV005213263
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 Pick disease Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3	Criteria Provided Conflicting Classifications	CA7256797	rs_115760359	2 SubmittersRCV000277519 RCV000325529 RCV000954050
NM_000021.4(PSEN1):c.337C>T (p.Leu113=)	SNV Germline	Chr14:73171046	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3	Criteria Provided Conflicting Classifications	CA7256710	rs_201500006	2 SubmittersRCV000331752 RCV000370131 RCV001850658
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 Pick disease Frontotemporal dementia Acne inversa, familial, 3 PSEN1-related disorder	Criteria Provided Conflicting Classifications	CA7256899	rs_116640707	5 SubmittersRCV000329570 RCV000377075 RCV000874610 RCV001088486 RCV004752845
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	7 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_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	3 SubmittersRCV000498690 RCV003766796
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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset 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_000021.4(PSEN1):c.799C>G (p.Pro267Ala)	SNV Germline	Chr14:73198060	Conflicting classifications of pathogenicity	not specified Condition: not provided Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 Alzheimer disease 3 Pick disease	Criteria Provided Conflicting Classifications	CA390301959	rs_63751229	4 SubmittersRCV000516919 RCV003480665 RCV004586752 RCV006556150
NM_007126.5(VCP):c.278G>A (p.Arg93His)	SNV Germline	Chr9:35067915	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	CA5039527	rs_779959657	3 SubmittersRCV000520021 RCV002231635
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)	SNV Germline	Chr5:179833040	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3600669	rs_182522590	3 SubmittersRCV000544306 RCV005742069 RCV004791567
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu)	SNV Germline	Chr5:179833705	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset SQSTM1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3600795	rs_375495050	4 SubmittersRCV000550465 RCV004543226 RCV004707341
NM_007126.5(VCP):c.426G>A (p.Ala142=)	SNV Germline	Chr9:35066694	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	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 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	Criteria Provided Conflicting Classifications	CA5039291	rs_148329626	8 SubmittersRCV000534353 RCV001579523 RCV002350262 RCV004537963 RCV005860102
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 not specified	Criteria Provided Conflicting Classifications	CA5039169	rs_141275388	5 SubmittersRCV000598527 RCV001403231 RCV002413682 RCV004530715 RCV006692309
NM_007126.5(VCP):c.1929C>T (p.Ile643=)	SNV Germline	Chr9:35059568	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications	CA464601983	rs_1554668168	3 SubmittersRCV000591899 RCV002413684 RCV006556336
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	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset 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	3 SubmittersRCV000635209 RCV001128500
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)	SNV Germline	Chr22:23766263	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	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	CA8618051	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	CA5039304	rs_183223259	7 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	CA373292088	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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6669199	rs_144370662	5 SubmittersRCV000704095 RCV003980319 RCV004692186 RCV006452851
NM_000021.4(PSEN1):c.869-2A>T	SNV Germline	Chr14:73206384	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 Pick disease	Criteria Provided Single Submitter	CA390304667	rs_1566650594	1 SubmittersRCV000703026
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)	SNV Germline	Chr22:23766261	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA410915171	rs_1252496774	3 SubmittersRCV000688111 RCV002440432 RCV004692092
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)	SNV Germline	Chr22:23766225	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA10145261	rs_9153	2 SubmittersRCV000685394 RCV001268858
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)	SNV Germline	Chr5:179821121	Conflicting classifications of pathogenicity	Condition: not provided Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Criteria Provided Conflicting Classifications	CA3600384	rs_774355338	4 SubmittersRCV000713545 RCV001422461 RCV006699322
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	CA5297156	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 Pick disease Frontotemporal dementia Acne inversa, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA390299466	rs_1555355250	2 SubmittersRCV000712873 RCV001055042
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)	SNV Germline	Chr9:35067916	Pathogenic	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	CA373293400	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 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	CA5039174	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 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	CA464602374	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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA5039286	rs_375262833	6 SubmittersRCV000729642 RCV001221457 RCV002386295 RCV006459870
NM_007126.5(VCP):c.1488T>C (p.Pro496=)	SNV Germline	Chr9:35060520	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	CA464403788	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	CA373293355	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 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	CA5039496	rs_549915384	5 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	CA390304742	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	CA390304909	rs_1566630884	1 SubmittersRCV000736260
NM_000021.4(PSEN1):c.424G>A (p.Val142Ile)	SNV Germline	Chr14:73173651	Conflicting classifications of pathogenicity	Alzheimer disease Acne inversa, familial, 3 Dilated cardiomyopathy 1U Alzheimer disease 3 Frontotemporal dementia Pick disease	Criteria Provided Conflicting Classifications	CA390304971	rs_1566630910	2 SubmittersRCV000736266 RCV004796295
NM_000021.4(PSEN1):c.869-1G>A	SNV Germline	Chr14:73206385	Pathogenic/Likely pathogenic	Alzheimer disease Alzheimer disease 3 Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA390304669	rs_63750219	4 SubmittersRCV000736261 RCV002470967 RCV002533770
NM_002087.4(GRN):c.1179G>A (p.Glu393=)	SNV Germline	Chr17:44351795	Conflicting classifications of pathogenicity	Frontotemporal dementia Melanoma GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Conflicting Classifications	CA500622174	rs_1567887777	3 SubmittersRCV000736255 RCV005897272 RCV006556610
NM_002087.4(GRN):c.1446C>A (p.Cys482Ter)	SNV Unknown	Chr17:44352373	Pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter	CA399769785	rs_1567888461	1 SubmittersRCV000736252
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg)	SNV Germline	Chr17:46018672	Conflicting classifications of pathogenicity	Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA399983740	rs_1568339821	2 SubmittersRCV000736258
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)	SNV Germline	Chr12:64484379	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 TBK1-related disorder Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA385600197	rs_1328949478	5 SubmittersRCV000760459 RCV002536579 RCV004745579 RCV006649224
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)	SNV Germline	Chr14:73173583	Likely pathogenic	Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA390304710	rs_1566630791	3 SubmittersRCV001196175 RCV000782176
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	CA385122454	rs_1592173638	1 SubmittersRCV000789008
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)	SNV Germline	Chr2:74370248	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Frontotemporal dementia Inborn genetic diseases Condition: not provided DCTN1-related disorder not specified	Criteria Provided Conflicting Classifications	CA1722213	rs_150368544	7 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838 RCV004745594 RCV006265283
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)	SNV Germline	Chr5:179833612	Pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter	CA362452408	rs_1185406298	1 SubmittersRCV000795535
NM_002137.4(HNRNPA2B1):c.657T>C (p.Ser219=)	SNV Germline	Chr7:26196402	Conflicting classifications of pathogenicity	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 HNRNPA2B1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4194563	rs_370050080	3 SubmittersRCV000819584 RCV004754574 RCV006440126
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)	SNV Germline	Chr14:73173574	Pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390304675	rs_63750730	2 SubmittersRCV000816670 RCV006265309
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)	SNV Germline	Chr14:73173628	Conflicting classifications of pathogenicity	Frontotemporal dementia Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Alzheimer disease 3	Criteria Provided Conflicting Classifications	CA390304887	rs_1595002439	2 SubmittersRCV000823608 RCV006694849
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)	SNV Germline	Chr14:73192721	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 Pick disease	Criteria Provided Single Submitter	CA390299412	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	CA8617596	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	CA399983634	rs_1598408073	2 SubmittersRCV000823456
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)	SNV Germline	Chr22:23767411	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	CA10145291	rs_767069606	2 SubmittersRCV000793823 RCV006342554
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 Condition: not provided Inborn genetic diseases CHCHD10-related disorder Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance	Criteria Provided Conflicting Classifications	CA10145297	rs_374211312	8 SubmittersRCV000812293 RCV003145171 RCV002422795 RCV003411792 RCV004789214 RCV005250120
NM_013254.4(TBK1):c.701+1G>A	SNV Germline	Chr12:64474391	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Amyotrophic lateral sclerosis TBK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA385597873	rs_1592362719	3 SubmittersRCV000797764 RCV001843550 RCV003411753
NM_000021.4(PSEN1):c.781G>A (p.Val261Ile)	SNV Germline	Chr14:73198042	Pathogenic	Early onset Alzheimer disease with behavioral disturbance Frontotemporal dementia Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390301925	rs_63750964	3 SubmittersRCV000984884 RCV005225170 RCV006732201
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	CA2500884	rs_138886714	4 SubmittersRCV001148368 RCV001759655 RCV003392657
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)	SNV Germline	Chr5:179823047	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	CA3600440	rs_537142935	3 SubmittersRCV000878251 RCV003141887
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)	SNV Germline	Chr5:179823884	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Condition: not provided SQSTM1-related disorder	Criteria Provided Conflicting Classifications	CA3600472	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	CA3600532	rs_199931327	5 SubmittersRCV000876784 RCV001151637 RCV003432850 RCV004541755
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)	SNV Germline	Chr5:179824197	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	CA3600562	rs_567433223	6 SubmittersRCV000877928 RCV001724184
NM_000021.4(PSEN1):c.234C>T (p.Gly78=)	SNV Germline	Chr14:73170943	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 1U Alzheimer disease 3 Inborn genetic diseases Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease not specified	Criteria Provided Conflicting Classifications	CA7256698	rs_143782428	6 SubmittersRCV000878970 RCV001120366 RCV001120367 RCV003259007 RCV002539275 RCV005056658
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)	SNV Germline	Chr5:179825206	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3600632	rs_762767720	2 SubmittersRCV000946105 RCV004962966
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)	SNV Germline	Chr5:179836471	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset SQSTM1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3600858	rs_201795943	3 SubmittersRCV000952476 RCV004735912 RCV005742138
NM_007126.5(VCP):c.732C>T (p.Tyr244=)	SNV Germline	Chr9:35063057	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 VCP-related disorder	Criteria Provided Conflicting Classifications	CA5039387	rs_201610567	3 SubmittersRCV000946065 RCV001395321 RCV004726741
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)	SNV Germline	Chr14:73198053	Conflicting classifications of pathogenicity	Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Dilated cardiomyopathy 1U Alzheimer disease 3 Condition: not provided PSEN1-related disorder	Criteria Provided Conflicting Classifications	CA7256824	rs_150301281	4 SubmittersRCV000896851 RCV001115471 RCV001115472 RCV005865420 RCV004753094
NM_003900.5(SQSTM1):c.205+7G>C	SNV Germline	Chr5:179821148	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Condition: not provided Myopathy, distal, with rimmed vacuoles	Criteria Provided Conflicting Classifications	CA133095079	rs_912066047	4 SubmittersRCV000951194 RCV003141903 RCV004789283
NM_001377265.1(MAPT):c.1453C>T (p.Leu485Phe)	SNV Germline	Chr17:45989923	Conflicting classifications of pathogenicity	Frontotemporal dementia Condition: not provided	Criteria Provided Conflicting Classifications	CA8617903	rs_199759929	2 SubmittersRCV001393993 RCV004808989
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)	SNV Unknown	Chr1:11022538	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter	CA338368233	rs_1570725499	1 SubmittersRCV000986235
NM_007126.5(VCP):c.888T>C (p.Asn296=)	SNV Germline	Chr9:35062274	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	CA192680500	rs_921092914	2 SubmittersRCV000999153 RCV006556889
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	CA480553577	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	CA385596028	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 Papillary renal cell carcinoma type 1	Criteria Provided Multiple Submitters No Conflicts	CA385599596	rs_1341055534	6 SubmittersRCV000995897 RCV001196463 RCV003333118 RCV005912226
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)	SNV Germline	Chr14:73192712	Pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3 Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA390299366	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	CA399983887	rs_1598408336	1 SubmittersRCV000995805
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)	SNV Germline	Chr5:179823930	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Condition: not provided SQSTM1-related disorder not specified	Criteria Provided Conflicting Classifications	CA3600491	rs_769325755	4 SubmittersRCV001041398 RCV001546334 RCV004536076 RCV005436964
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	CA362453763	rs_1247551175	1 SubmittersRCV001060204
NM_007126.5(VCP):c.648A>G (p.Ile216Met)	SNV Germline	Chr9:35064214	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Lewy body dementia	Criteria Provided Single Submitter	CA373286752	rs_1828783140	2 SubmittersRCV001038094 RCV002463580
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)	SNV Germline	Chr14:73173702	Conflicting classifications of pathogenicity	Frontotemporal dementia Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Condition: not provided	Criteria Provided Conflicting Classifications	CA390305134	rs_1897961716	2 SubmittersRCV001067591 RCV003222216
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)	SNV Germline	Chr14:73219139	Pathogenic/Likely pathogenic	Alzheimer disease 3 Pick disease Frontotemporal dementia Acne inversa, familial, 3 Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA390305963	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	CA361757210	rs_1757092904	2 SubmittersRCV001090101 RCV003558660
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 CHMP2B-related disorder Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA2500934	rs_200792883	5 SubmittersRCV001092352 RCV001241565 RCV004746237 RCV005367717
NM_007126.5(VCP):c.572G>C (p.Arg191Pro)	SNV Germline	Chr9:35065255	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 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	CA373288667	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 Hereditary spastic paraplegia 10	Criteria Provided Conflicting Classifications	CA385517000	rs_1882640177	3 SubmittersRCV001095391 RCV002555972 RCV005253723
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	CA385599317	rs_1284582102	2 SubmittersRCV001095423
NM_000021.4(PSEN1):c.80G>A (p.Arg27His)	SNV Germline	Chr14:73148099	Conflicting classifications of pathogenicity	Alzheimer disease 3 Dilated cardiomyopathy 1U not specified Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia Colon adenocarcinoma	Criteria Provided Conflicting Classifications	CA7256652	rs_149562759	4 SubmittersRCV001120055 RCV001120056 RCV004689997 RCV005213458 RCV005913768
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	CA8617493	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	CA8618036	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA8618249	rs_746312281	3 SubmittersRCV001122794 RCV003629149 RCV005256742
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	CA291112287	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	CA2500882	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	CA2501012	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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset SQSTM1-related disorder	Criteria Provided Conflicting Classifications	CA3600513	rs_775988188	3 SubmittersRCV001151636 RCV001343979 RCV004734034
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)	SNV Germline	Chr5:179824265	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	CA3600578	rs_771036207	2 SubmittersRCV001151638 RCV002070838
NM_007126.5(VCP):c.794T>C (p.Phe265Ser)	SNV Germline	Chr9:35062995	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	CA373286351	rs_1828756507	2 SubmittersRCV001167604 RCV001167605 RCV004768884
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 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	CA5039492	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	CA192695224	rs_188935092	2 SubmittersRCV001165910 RCV001165911 RCV002264211
NM_007126.5(VCP):c.446-4G>A	SNV Germline	Chr9:35065385	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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications	CA5039455	rs_370700002	2 SubmittersRCV001168236 RCV001168237 RCV001873558
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)	SNV Germline	Chr9:35061665	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 Charcot-Marie-Tooth disease type 2Y	Criteria Provided Conflicting Classifications	CA373283571	rs_1828723406	4 SubmittersRCV001237563 RCV001760253 RCV002471052
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)	SNV Germline	Chr14:73171017	Likely pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Single Submitter	CA390303543	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	CA373293267	rs_1828864269	1 SubmittersRCV001253196
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)	SNV Germline	Chr14:73170972	Pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter	CA390303304	rs_1897874329	1 SubmittersRCV001261949
NM_001377265.1(MAPT):c.1676A>G (p.Asn559Ser)	SNV Germline	Chr17:45991530	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA8617973	rs_150420625	4 SubmittersRCV001267188 RCV001289089 RCV006557297
NM_007126.5(VCP):c.1184A>G (p.Asp395Gly)	SNV Germline	Chr9:35061587	Likely pathogenic	FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES Condition: not provided	Criteria Provided Single Submitter	CA373282926	rs_1828721782	2 SubmittersRCV001271084 RCV004797923
NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr)	SNV Germline	Chr14:73198060	Pathogenic/Likely pathogenic	Alzheimer disease 3 Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Multiple Submitters No Conflicts	CA390301958	rs_63751229	2 SubmittersRCV001281064 RCV005225347
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)	SNV Germline	Chr16:2455540	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7842751	rs_778264897	4 SubmittersRCV001281085 RCV003426024
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	CA276812362	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	CA7842754	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	CA1697401	rs_757332023	3 SubmittersRCV001281089 RCV001365839 RCV003132375
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)	SNV Germline	Chr16:50791604	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Conflicting Classifications	CA395878910	rs_1971438573	3 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	CA1139659286	rs_1757883398	2 SubmittersRCV001288015 RCV002069539
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)	SNV Germline	Chr14:73192840	Pathogenic/Likely pathogenic	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease PSEN1-related disorder Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts	CA390299857	rs_1362575880	5 SubmittersRCV001289155 RCV001378264 RCV003918832 RCV005910909
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)	SNV Germline	Chr14:73219194	Conflicting classifications of pathogenicity	Condition: not provided Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease	Criteria Provided Conflicting Classifications	CA7256970	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 Autoinflammation with arthritis and vasculitis	Criteria Provided Single Submitter	CA385601326	rs_769588220	3 SubmittersRCV001291944 RCV004601430
NM_007126.5(VCP):c.265C>T (p.Arg89Trp)	SNV Germline	Chr9:35067928	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	Criteria Provided Conflicting Classifications	CA373293559	rs_1828865320	2 SubmittersRCV001308126 RCV004720847
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	CA362441988	rs_1302810798	3 SubmittersRCV001319264 RCV001563679 RCV002473267
NM_000021.4(PSEN1):c.338+7A>G	SNV Germline	Chr14:73171054	Conflicting classifications of pathogenicity	Frontotemporal dementia Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Alzheimer disease 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA2146469735	rs_1897878139	3 SubmittersRCV001326693 RCV005253801 RCV006437040
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	CA385600374	rs_765106259	2 SubmittersRCV001328679
NM_007126.5(VCP):c.577-2A>G	SNV Germline	Chr9:35064287	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	CA373287295	rs_1828784075	1 SubmittersRCV001341264
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys)	SNV Germline	Chr14:73192762	Pathogenic	Pick disease Frontotemporal dementia Acne inversa, familial, 3 Alzheimer disease 3	Criteria Provided Single Submitter	CA390299625	rs_1898776259	1 SubmittersRCV001350081
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)	SNV Germline	Chr5:179822996	Pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter	CA362443062	rs_1425863340	1 SubmittersRCV001390972
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)	SNV Germline	Chr5:179836480	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset SQSTM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3600862	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	CA385606473	rs_2136088420	1 SubmittersRCV001388492
NM_007126.5(VCP):c.446-5C>T	SNV Germline	Chr9:35065386	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 not specified	Criteria Provided Conflicting Classifications	CA5039457	rs_541980846	3 SubmittersRCV001394423 RCV002329415 RCV005432701
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln)	SNV Germline	Chr14:73170870	Conflicting classifications of pathogenicity	Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7256690	rs_201216284	2 SubmittersRCV001392197 RCV005712504
NM_213720.3(CHCHD10):c.42-5C>T	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA322574089	rs_868345557	2 SubmittersRCV001395837 RCV002329417
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)	SNV Germline	Chr5:179833185	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	CA3600721	rs_143746604	3 SubmittersRCV001422431 RCV003317495
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)	SNV Germline	Chr5:179824198	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3600563	rs_535606152	2 SubmittersRCV001482351 RCV004681201
NM_000021.4(PSEN1):c.-136+213G>A	SNV Germline	Chr14:73136796	Conflicting classifications of pathogenicity	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA262598657	rs_199959804	3 SubmittersRCV001495274 RCV003399258 RCV006689257
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)	SNV Germline	Chr5:179836543	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	CA3600875	rs_757212984	3 SubmittersRCV001508538 RCV001882557
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)	SNV Germline	Chr17:45971901	Conflicting classifications of pathogenicity	Frontotemporal dementia Condition: not provided MAPT-related disorder	Criteria Provided Conflicting Classifications	CA8617543	rs_143138715	5 SubmittersRCV001521462 RCV001685408 RCV003956205
NM_018965.4(TREM2):c.594G>A (p.Trp198Ter)	SNV Germline	Chr6:41158955	Pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter	CA364057498	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	CA367070916	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 Pick disease Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease	Criteria Provided Conflicting Classifications	CA390301928	rs_199723282	4 SubmittersRCV001810075 RCV002473293 RCV002568920 RCV004785268
NM_000021.4(PSEN1):c.1247T>C (p.Ile416Thr)	SNV Germline	Chr14:73217243	Pathogenic	Alzheimer disease 3 Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA390305937	rs_2140145565	2 SubmittersRCV001810076 RCV005225421
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)	SNV Germline	Chr14:73219164	Conflicting classifications of pathogenicity	Alzheimer disease 3 Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia not specified	Criteria Provided Conflicting Classifications	CA390306012	rs_1398951357	3 SubmittersRCV001810077 RCV001873794 RCV005432747
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)	SNV Germline	Chr5:179833101	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 SQSTM1-related disorder not specified	Criteria Provided Conflicting Classifications	CA3600700	rs_201923000	6 SubmittersRCV001576971 RCV001882690 RCV002569088 RCV004734240 RCV005437282
NM_007126.5(VCP):c.18-4C>G	SNV Germline	Chr9:35068366	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	CA1123167041	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	CA6669005	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	CA133109718	rs_765610848	3 SubmittersRCV001868769 RCV003238467
NM_007126.5(VCP):c.1460G>A (p.Arg487His)	SNV Germline	Chr9:35060823	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	CA5039250	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	CA6668769	rs_757203783	2 SubmittersRCV001825077
NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)	SNV Unknown	Chr15:78635465	Likely pathogenic	Frontotemporal dementia	No Assertion Criteria Provided	CA393586206	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	CA7684925	rs_774714066	1 SubmittersRCV001848609
NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)	SNV Germline	Chr9:132330484	Conflicting classifications of pathogenicity	Frontotemporal dementia Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297819	rs_145145045	3 SubmittersRCV001848614 RCV002440902 RCV005213616
NM_013254.4(TBK1):c.1189+1G>T	SNV Germline	Chr12:64484500	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter	CA385600519	rs_2136078402	1 SubmittersRCV002039154
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)	SNV Germline	Chr14:73211942	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 Pick disease	Criteria Provided Single Submitter	CA390305683	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	CA373293471	rs_1563980966	1 SubmittersRCV002015462
NM_013254.4(TBK1):c.1189+1G>A	SNV Germline	Chr12:64484500	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter	CA385600515	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	CA751787945	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	CA362452294	rs_2113512370	1 SubmittersRCV001977620
NM_007126.5(VCP):c.273C>G (p.Asn91Lys)	SNV Germline	Chr9:35067920	Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Single Submitter	CA373293470	rs_1563980966	1 SubmittersRCV001908873
NM_007126.5(VCP):c.472A>G (p.Met158Val)	SNV Germline	Chr9:35065355	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA373289580	rs_1554668813	1 SubmittersRCV001953725
NM_007126.5(VCP):c.469G>A (p.Gly157Arg)	SNV Germline	Chr9:35065358	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA373289608	rs_1554668814	1 SubmittersRCV001972632
NM_007126.5(VCP):c.463C>A (p.Arg155Ser)	SNV Germline	Chr9:35065364	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA373289661	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	CA367072089	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 SQSTM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA362453134	rs_1391182750	2 SubmittersRCV001949681 RCV006691164
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)	SNV Germline	Chr17:45962417	Conflicting classifications of pathogenicity	Frontotemporal dementia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA8617510	rs_769331823	3 SubmittersRCV001921514 RCV002560453 RCV006702991
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	CA6668963	rs_758357594	1 SubmittersRCV002000195
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)	SNV Germline	Chr14:73192845	Pathogenic	Frontotemporal dementia Alzheimer disease 3 Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter	CA390299886	rs_1898781850	1 SubmittersRCV002037964
NM_000021.4(PSEN1):c.640C>A (p.His214Asn)	SNV Germline	Chr14:73192735	Conflicting classifications of pathogenicity	Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia Pick disease Condition: not provided	Criteria Provided Conflicting Classifications	CA390299492	rs_63751003	2 SubmittersRCV001900646 RCV004762214
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)	SNV Germline	Chr12:64486012	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA385601359	rs_2136079548	2 SubmittersRCV001901321 RCV005370023
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	CA390302176	rs_2140105309	1 SubmittersRCV001949489
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)	SNV Germline	Chr5:179836501	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Myopathy, distal, with rimmed vacuoles SQSTM1-related disorder Condition: not provided Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Myopathy, distal, with rimmed vacuoles	Criteria Provided Multiple Submitters No Conflicts	CA3600867	rs_143511494	7 SubmittersRCV001972785 RCV003147715 RCV003333197 RCV004734369 RCV004719211 RCV005370079
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	CA5039526	rs_758169026	1 SubmittersRCV002018336
NM_003900.5(SQSTM1):c.301+1G>T	SNV Germline	Chr5:179823054	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset SQSTM1-related multisystem proteinopathy	Criteria Provided Multiple Submitters No Conflicts	CA362443278	rs_2113485289	2 SubmittersRCV001908192 RCV006257343
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	CA6668722	rs_748061846	2 SubmittersRCV001948003 RCV003992581
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)	SNV Germline	Chr14:73192840	Likely pathogenic	Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia	Criteria Provided Single Submitter	CA390299862	rs_1362575880	1 SubmittersRCV001980594
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)	SNV Germline	Chr14:73219262	Conflicting classifications of pathogenicity	Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia Pick disease Dilated cardiomyopathy 1U Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia PSEN1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7256976	rs_201496204	5 SubmittersRCV002043451 RCV002486747 RCV003913489 RCV004694150 RCV004999613
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser)	SNV Germline	Chr14:73211876	Conflicting classifications of pathogenicity	Pick disease Alzheimer disease 3 Frontotemporal dementia Acne inversa, familial, 3 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7256915	rs_376433615	3 SubmittersRCV002148365 RCV004690257 RCV006437135
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	CA587568770	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 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA238264720	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	CA6669278	rs_534404556	2 SubmittersRCV002153421
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val)	SNV Germline	Chr5:179825146	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	CA3600612	rs_202235745	2 SubmittersRCV002083669 RCV005054402
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)	SNV Germline	Chr14:73170854	Conflicting classifications of pathogenicity	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7256689	rs_200373970	3 SubmittersRCV002088756 RCV003007081 RCV005238240
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	CA385606855	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	CA6668770	rs_200879808	1 SubmittersRCV002283871
NM_001377265.1(MAPT):c.1795G>A (p.Gly599Ser)	SNV Germline	Chr17:45996461	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia	Criteria Provided Conflicting Classifications	CA8618035	rs_771662961	3 SubmittersRCV002292042 RCV003097803
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	CA385605778	rs_2539537276	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	CA3600860	rs_771657338	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	CA385592734	rs_1555201919	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	CA385603171	rs_1280163869	1 SubmittersRCV003062524
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)	SNV Germline	Chr14:73173654	Likely pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Frontotemporal dementia	Criteria Provided Single Submitter	CA390304983	rs_63750322	1 SubmittersRCV003062642
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)	SNV Germline	Chr14:73173703	Pathogenic	Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Frontotemporal dementia	Criteria Provided Single Submitter	CA390305138	rs_778630379	1 SubmittersRCV003062643
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)	SNV Germline	Chr9:35065361	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	CA373289624	rs_1554668817	2 SubmittersRCV003037322 RCV005227805
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)	SNV Germline	Chr5:179833178	Pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter	CA362451702	rs_1258386028	1 SubmittersRCV003090306
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)	SNV Germline	Chr5:179824007	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	CA362443972	rs_1166729262	2 SubmittersRCV003090091 RCV003328713
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)	SNV Germline	Chr14:73192861	Pathogenic	Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia	Criteria Provided Single Submitter	CA390299975	rs_2502941276	1 SubmittersRCV003112298
NM_003900.5(SQSTM1):c.1166-2A>G	SNV Germline	Chr5:179836434	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	CA362453565	rs_2480264648	2 SubmittersRCV002587274 RCV004725314
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)	SNV Germline	Chr14:73198106	Pathogenic/Likely pathogenic	Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390302267	rs_63750050	2 SubmittersRCV002601742 RCV006437154
NM_003900.5(SQSTM1):c.205+2T>C	SNV Germline	Chr5:179821143	Likely pathogenic	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Single Submitter	CA362442577	rs_1757759029	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	CA390303235	rs_2503063102	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	CA385602681	rs_2539525878	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	CA385601638	rs_1461457058	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	CA385599400	rs_369620088	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	CA385604526	rs_2539534855	1 SubmittersRCV002847242
NM_007126.5(VCP):c.382G>A (p.Gly128Ser)	SNV Germline	Chr9:35066738	Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Single Submitter	CA373291998	rs_2490370338	1 SubmittersRCV002876342
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)	SNV Germline	Chr14:73170983	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390303353	rs_2503063306	2 SubmittersRCV002876347 RCV003222446
NM_001377265.1(MAPT):c.2091+16C>G	SNV Germline	Chr17:46010418	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter	CA2576299117	rs_63751011	1 SubmittersRCV002914169
NM_007126.5(VCP):c.266G>A (p.Arg89Gln)	SNV Germline	Chr9:35067927	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA192683160	rs_900105227	1 SubmittersRCV002927327
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	CA385597878	rs_2539503647	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	CA362451178	rs_2480244231	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	CA385601292	rs_2539520026	1 SubmittersRCV003019974
NM_001377265.1(MAPT):c.2266C>T (p.Pro756Ser)	SNV Unknown	Chr17:46018710	Pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter	CA399983890	rs_1598408336	1 SubmittersRCV003315208
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)	SNV Germline	Chr14:73170804	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia Pick disease Alzheimer disease 3 Acne inversa, familial, 3	Criteria Provided Conflicting Classifications	CA7256670	rs_200824179	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	CA373286437	rs_2490360233	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 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Conflicting Classifications	CA390301923	rs_63751420	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	CA385598395	rs_2539511036	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	CA385605880	rs_2539537429	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	CA385606810	rs_1565824978	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	CA385594279	rs_2539482429	1 SubmittersRCV003753864
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)	SNV Germline	Chr14:73219191	Conflicting classifications of pathogenicity	Alzheimer disease 3 Acne inversa, familial, 3 Pick disease Frontotemporal dementia Alzheimer disease 3	Criteria Provided Conflicting Classifications	CA390306071	rs_63749925	3 SubmittersRCV003994584 RCV003785387
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)	SNV Germline	Chr14:73170959	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter	CA390303217	rs_749249788	1 SubmittersRCV003783616
NM_000021.4(PSEN1):c.869-2A>G	SNV Germline	Chr14:73206384	Pathogenic	Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Single Submitter	CA390304665	rs_1566650594	1 SubmittersRCV003783617
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)	SNV Germline	Chr22:23767420	Conflicting classifications of pathogenicity	Lower motor neuron syndrome with late-adult onset Autosomal dominant mitochondrial myopathy with exercise intolerance Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10145293	rs_766054125	2 SubmittersRCV003787835 RCV006449181
NM_003900.5(SQSTM1):c.206-2A>G	SNV Germline	Chr5:179822956	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter	CA3600414	rs_373306317	1 SubmittersRCV003792197
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)	SNV Germline	Chr5:179833728	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter	CA362452937	rs_1261101487	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	CA362452318	rs_1758351897	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	CA373293362	rs_121909332	1 SubmittersRCV003813702
NM_001377265.1(MAPT):c.1993G>A (p.Gly665Arg)	SNV Germline	Chr17:45996659	Conflicting classifications of pathogenicity	Frontotemporal dementia Condition: not provided	Criteria Provided Conflicting Classifications	CA399978468	rs_1247408229	2 SubmittersRCV003810929 RCV004790628
NM_013254.4(TBK1):c.608A>G (p.Asp203Gly)	SNV Germline	Chr12:64474297	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	No Assertion Criteria Provided			1 SubmittersRCV004767607
NM_013254.4(TBK1):c.1760+1G>A	SNV Germline	Chr12:64496407	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV005055407
NM_013254.4(TBK1):c.1693C>T (p.Gln565Ter)	SNV Germline	Chr12:64495748	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV004765475
NM_013254.4(TBK1):c.1341-1G>A	SNV Germline	Chr12:64488486	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Incidental Discovery	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005071141 RCV005629868
NM_013254.4(TBK1):c.281T>C (p.Leu94Ser)	SNV Germline	Chr12:64464386	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005203018 RCV006278162
NM_013254.4(TBK1):c.889C>T (p.Gln297Ter)	SNV Germline	Chr12:64481918	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV005198641
NM_003900.5(SQSTM1):c.686C>A (p.Ser229Ter)	SNV Germline	Chr5:179825158	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter			1 SubmittersRCV005213095
NM_000021.4(PSEN1):c.416T>A (p.Met139Lys)	SNV Germline	Chr14:73173643	Pathogenic/Likely pathogenic	Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005221339 RCV005241143
NM_000021.4(PSEN1):c.1300G>A (p.Ala434Thr)	SNV Germline	Chr14:73219185	Conflicting classifications of pathogenicity	Pick disease Acne inversa, familial, 3 Alzheimer disease 3 Frontotemporal dementia not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV005221340 RCV005407422
NM_003900.5(SQSTM1):c.206-1G>C	SNV Germline	Chr5:179822957	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter			1 SubmittersRCV005212578
NM_003900.5(SQSTM1):c.571G>T (p.Gly191Ter)	SNV Germline	Chr5:179824221	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter			1 SubmittersRCV005216396
NM_007126.5(VCP):c.410C>T (p.Pro137Leu)	SNV Germline	Chr9:35066710	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 2Y 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			2 SubmittersRCV005238702 RCV006567145
NM_001377265.1(MAPT):c.2027T>A (p.Leu676His)	SNV Germline	Chr17:46010338	Likely pathogenic	Frontotemporal dementia	Criteria Provided Single Submitter			1 SubmittersRCV005358300
NM_014043.4(CHMP2B):c.617A>C (p.Gln206Pro)	SNV Germline	Chr3:87253797	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Criteria Provided Single Submitter			1 SubmittersRCV005410120
NM_000021.4(PSEN1):c.1168A>G (p.Ser390Gly)	SNV Germline	Chr14:73217164	Conflicting classifications of pathogenicity	Alzheimer disease 3 Alzheimer disease 3 Frontotemporal dementia Pick disease Acne inversa, familial, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV005417356 RCV006567524
NM_000021.4(PSEN1):c.784T>G (p.Leu262Val)	SNV Germline	Chr14:73198045	Pathogenic/Likely pathogenic	Alzheimer disease 3 Pick disease Acne inversa, familial, 3 Frontotemporal dementia Alzheimer disease 3	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005622857 RCV006568380
NM_007126.5(VCP):c.563C>A (p.Pro188His)	SNV Germline	Chr9:35065264	Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	Criteria Provided Single Submitter			1 SubmittersRCV005622902
NM_001377265.1(MAPT):c.220+2504G>A	SNV Germline	Chr17:45974449	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia	Criteria Provided Conflicting Classifications			2 SubmittersRCV005868750 RCV006490022
NM_013254.4(TBK1):c.1521+1G>A	SNV Germline	Chr12:64490120	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV006455014
NM_013254.4(TBK1):c.1694A>C (p.Gln565Pro)	SNV Germline	Chr12:64495749	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006509715
NM_013254.4(TBK1):c.358+1G>T	SNV Germline	Chr12:64464464	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV006524666
NM_013254.4(TBK1):c.1765A>T (p.Lys589Ter)	SNV Germline	Chr12:64496953	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Single Submitter			1 SubmittersRCV006536608
NM_000021.4(PSEN1):c.1164C>G (p.Phe388Leu)	SNV Germline	Chr14:73217160	Pathogenic	Pick disease Alzheimer disease 3 Acne inversa, familial, 3 Frontotemporal dementia	Criteria Provided Single Submitter			1 SubmittersRCV006598423
NM_003900.5(SQSTM1):c.838G>T (p.Glu280Ter)	SNV Germline	Chr5:179833115	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter			1 SubmittersRCV006598512
NM_002739.5(PRKCG):c.334A>G (p.Thr112Ala)	SNV Germline	Chr19:53889686	Likely pathogenic	Frontotemporal dementia Ataxia	Criteria Provided Single Submitter			1 SubmittersRCV006694108

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.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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA214928

rs_121908390

6 SubmittersRCV000005575 RCV000005573 RCV000005574 RCV002496269 RCV005089180 RCV006268069

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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Paget disease of bone 3
Condition: not provided
Spastic paraplegia-Paget disease of bone syndrome
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Amyotrophic lateral sclerosis
Bone Paget disease
SQSTM1-related multisystem proteinopathy
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Criteria Provided
Conflicting Classifications

CA203866

rs_104893941

18 SubmittersRCV000008576 RCV000184063 RCV000477939 RCV000490214 RCV000824803 RCV001084507 RCV002508916 RCV005249984 RCV006249552 RCV006688335

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

SNV
Germline

Chr5:179833783

Pathogenic

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA128983

rs_121909329

13 SubmittersRCV000008989 RCV000540496 RCV000523065 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

8 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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

CA254402

rs_121909332

2 SubmittersRCV000008992 RCV005222674

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254406

rs_121909334

14 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

14 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
MAPT-related disorder
Supranuclear palsy, progressive, 1
Frontotemporal dementia
Supranuclear palsy, progressive, 1
Pick disease
Parkinson disease, late-onset
Progressive supranuclear palsy-parkinsonism syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA225444

rs_63751273

14 SubmittersRCV000015313 RCV000084527 RCV000763405 RCV003407335 RCV002508757 RCV004795415

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
Frontotemporal dementia
Supranuclear palsy, progressive, 1
Pick disease
Parkinson disease, late-onset
Progressive supranuclear palsy-parkinsonism syndrome
MAPT-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA225495

rs_63750424

13 SubmittersRCV000015316 RCV000084554 RCV002476970 RCV004742226

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

CA399983396

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
Multiple Submitters
No Conflicts

CA225483

rs_63750570

4 SubmittersRCV000015321 RCV000084548

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

SNV
Germline

Chr17:46010324

Pathogenic

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

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

Criteria Provided
Single Submitter

CA225453

rs_63751165

3 SubmittersRCV000015323 RCV000084530

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

SNV
Germline

Chr17:46024010

Pathogenic/Likely pathogenic

Pick disease
Condition: not provided
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA257189

rs_63750512

4 SubmittersRCV000015324 RCV000517183 RCV001851871

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

SNV
Germline

Chr17:46010388

Likely pathogenic

Frontotemporal dementia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA225439

rs_63751438

4 SubmittersRCV000015325 RCV000084526

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

SNV
Germline

Chr17:46010375

Pathogenic

Frontotemporal dementia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA225434

rs_63750912

5 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA257191

rs_63750959

4 SubmittersRCV000015330 RCV004700240

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341490

rs_63750306

6 SubmittersRCV000019751 RCV001248367 RCV003105774

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

SNV
Germline

Chr14:73186860

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225104

rs_63750526

6 SubmittersRCV000019753 RCV000084361 RCV000542870

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

SNV
Germline

Chr14:73217225

Pathogenic

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

Criteria Provided
Single Submitter

CA225174

rs_661

3 SubmittersRCV000019755 RCV000084407 RCV000640605

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

SNV
Germline

Chr14:73173642

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225015

rs_63751037

9 SubmittersRCV000019756 RCV000084304 RCV003764610

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

SNV
Germline

Chr14:73198100

Pathogenic

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

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
Frontotemporal dementia
Alzheimer disease 3
Pick disease

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225181

rs_63751223

6 SubmittersRCV000019766 RCV000084411 RCV000763348 RCV005222695

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

SNV
Germline

Chr14:73192712

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA258122

rs_63750082

11 SubmittersRCV000019773 RCV000518563 RCV000640609 RCV002482890 RCV004752714 RCV006694422

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

SNV
Germline

Chr14:73171047

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224998

rs_63751399

5 SubmittersRCV000019775 RCV000020084 RCV000084292 RCV001228362

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

Criteria Provided
Single Submitter

CA225129

rs_63749891

3 SubmittersRCV000019782 RCV000084379 RCV002513126

NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)

SNV
Germline

Chr14:73170963

Pathogenic/Likely pathogenic

Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
Condition: not provided
Frontotemporal dementia
Alzheimer disease 3
Pick disease

Criteria Provided
Multiple Submitters
No Conflicts

CA127841

rs_63750599

4 SubmittersRCV000019783 RCV000084284 RCV005409602

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

SNV
Germline

Chr14:73219177

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341492

rs_63750083

12 SubmittersRCV000019785 RCV000517533 RCV000640606 RCV005003398

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

SNV
Germline

Chr14:73211811

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U
Primary dilated cardiomyopathy
Heart failure
Frontotemporal dementia
Alzheimer disease 3
Acne inversa, familial, 3
Pick disease
not specified

Criteria Provided
Conflicting Classifications

CA258124

rs_121917809

4 SubmittersRCV000019786 RCV000171844 RCV000877625 RCV006436392

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

SNV
Germline

Chr14:73170945

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224983

rs_63749824

7 SubmittersRCV000019787 RCV000084281 RCV000529477 RCV005234786

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

SNV
Germline

Chr14:73192744

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA127843

rs_267606983

3 SubmittersRCV000019789 RCV001377214 RCV005406754

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

SNV
Germline

Chr14:73217171

Pathogenic

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

Criteria Provided
Single Submitter

CA225168

rs_63750218

3 SubmittersRCV000020082 RCV000084403 RCV002514122

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

SNV
Germline

Chr14:73192792

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341527

rs_63751287

6 SubmittersRCV000020086 RCV000712874 RCV000818883

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
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10
TARDBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150788

rs_367543041

8 SubmittersRCV000020663 RCV000106321 RCV000413910 RCV002513146 RCV003944833

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
Inborn genetic diseases
FUS-related disorder
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA130060

rs_186547381

9 SubmittersRCV000030718 RCV000765290 RCV000711709 RCV001847624 RCV002381274 RCV003407373 RCV003993752

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

SNV
Germline

Chr14:73198067

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225122

rs_63750900

6 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
Spastic paraparesis
Dysarthria
Gait ataxia
Cerebral cortical atrophy
Intellectual disability
Spastic ataxia
Sensorimotor neuropathy
SPG7-related disorder
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Uterine corpus endometrial carcinoma
Retinal dystrophy
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer, nonmedullary, 1
Melanoma
Acute myeloid leukemia
Clear cell carcinoma of kidney
Sarcoma
Hepatocellular carcinoma
Cervical cancer
Optic neuropathy
Uveal melanoma
Gastric cancer
Lung cancer
Familial cancer of breast
Possible mitochondrial disorder - nuclear genes
Mitochondrial DNA maintenance disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA090884

rs_61755320

73 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000850200 RCV001003619 RCV003421943 RCV002463623 RCV005888966 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV006700620 RCV006700621

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

SNV
Germline

Chr12:54283845

Likely pathogenic

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

Criteria Provided
Single Submitter

CA144797

rs_397518452

2 SubmittersRCV001781388 RCV000055649

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

5 SubmittersRCV000058956 RCV000409776 RCV001090098

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

SNV
Germline

Chr3:87253711

Pathogenic

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

No Assertion Criteria Provided

CA224977

rs_63750652

3 SubmittersRCV002055246 RCV005887701 RCV000084277

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

Criteria Provided
Conflicting Classifications

CA224981

rs_63750592

7 SubmittersRCV000084280 RCV000172094 RCV000640608 RCV001120058 RCV001120057 RCV004800279

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

SNV
Germline

Chr14:73173571

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225002

rs_63750450

6 SubmittersRCV000084295 RCV000640610 RCV001199924

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

SNV
Germline

Chr14:73173574

Pathogenic

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

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
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

Criteria Provided
Single Submitter

CA225005

rs_63750550

2 SubmittersRCV000084297 RCV002514494

NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu)

SNV
Germline

Chr14:73173577

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225007

rs_63749805

3 SubmittersRCV000084298 RCV002272062 RCV005222747

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

SNV
Germline

Chr14:73173630

Likely pathogenic

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

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

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225045

rs_63751210

3 SubmittersRCV000084325 RCV002513897 RCV006263661

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

SNV
Germline

Chr14:73186884

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225057

rs_63749806

3 SubmittersRCV000084333 RCV002513898 RCV004813056

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

SNV
Germline

Chr14:73192647

Pathogenic

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

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
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

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

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
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

Criteria Provided
Single Submitter

CA225110

rs_63751420

2 SubmittersRCV000084365 RCV003764779

NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)

SNV
Germline

Chr14:73198047

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225113

rs_63750248

8 SubmittersRCV000084367 RCV005222748 RCV004783741 RCV006694444

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

SNV
Germline

Chr14:73198052

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225117

rs_63750301

7 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
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

Criteria Provided
Multiple Submitters
No Conflicts

CA225119

rs_63750779

4 SubmittersRCV000084372 RCV001261442 RCV002514496

NM_000021.4(PSEN1):c.854C>T (p.Ala285Val)

SNV
Germline

Chr14:73198115

Pathogenic

Condition: not provided
Early-onset autosomal dominant Alzheimer disease
Alzheimer disease 3
Acne inversa, familial, 3
Frontotemporal dementia
Pick disease

Criteria Provided
Multiple Submitters
No Conflicts

CA225140

rs_63751139

3 SubmittersRCV000084386 RCV001808319 RCV005222749

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

SNV
Germline

Chr14:73217170

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225167

rs_63751416

4 SubmittersRCV000084402 RCV002513899

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

SNV
Germline

Chr14:73217177

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA225173

rs_63750227

4 SubmittersRCV000084406 RCV000811198 RCV004767067

NM_000021.4(PSEN1):c.1271T>G (p.Leu424Arg)

SNV
Germline

Chr14:73219156

Pathogenic

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

Criteria Provided
Single Submitter

CA225179

rs_63751032

2 SubmittersRCV000084410 RCV006555433

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

SNV
Germline

Chr14:73219177

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA225182

rs_63750083

4 SubmittersRCV000084412 RCV002288582 RCV005222750

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
MAPT-related disorder
Progressive supranuclear palsy-parkinsonism syndrome

Criteria Provided
Conflicting Classifications

CA225409

rs_63750096

9 SubmittersRCV000084513 RCV000325065 RCV000805364 RCV003935077 RCV003993800

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+3G>A

SNV
Germline

Chr17:46010405

Pathogenic

Condition: not provided
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA225460

rs_63750013

4 SubmittersRCV000084532 RCV005089559

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
Mental deterioration
Frontotemporal dementia
Memory impairment
Dementia
Frontotemporal dementia
MAPT-related disorder
Progressive supranuclear palsy-parkinsonism syndrome
Adult onset neurodegenerative disorder
Adult onset hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA225465

rs_63751011

15 SubmittersRCV000084537 RCV000626753 RCV000626752 RCV000687510 RCV003415858 RCV004593990 RCV006629077 RCV006742281

NM_001377265.1(MAPT):c.2091+19C>G

SNV
Germline

Chr17:46010421

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA225466

rs_63750162

4 SubmittersRCV000084538 RCV005089560

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

SNV
Germline

Chr17:46018623

Pathogenic/Likely pathogenic

Condition: not provided
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA225477

rs_63750095

3 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

7 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
Frontotemporal dementia
Inborn genetic diseases
Familial sleep-related hypermotor epilepsy

Criteria Provided
Conflicting Classifications

CA150420

rs_121912282

7 SubmittersRCV000084610 RCV000513088 RCV001847655 RCV002513908 RCV006647757

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
Alzheimer disease 3
Acne inversa, familial, 3
Frontotemporal dementia
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

6 SubmittersRCV000128857 RCV000192232 RCV001268565

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

SNV
Germline

Chr22:23767591

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235291

rs_730880030

5 SubmittersRCV000157069 RCV000804540 RCV001731147 RCV002463652

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

Criteria Provided
Conflicting Classifications

CA203868

rs_776749939

4 SubmittersRCV000184065 RCV000481808 RCV001323701 RCV004734809

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

Criteria Provided
Single Submitter

CA6669037

rs_767898276

2 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275539

rs_63749817

8 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
Autosomal dominant mitochondrial myopathy with exercise intolerance
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Lower motor neuron syndrome with late-adult onset
Condition: not provided
Lower motor neuron syndrome with late-adult onset
Amyotrophic lateral sclerosis
Inborn genetic diseases
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

CA347297

rs_775332895

9 SubmittersRCV000192233 RCV000558062 RCV001092755 RCV000990378 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
Cervical cancer

Criteria Provided
Conflicting Classifications

CA3600374

rs_200396166

10 SubmittersRCV000184066 RCV000652548 RCV001155398 RCV001636735 RCV002518539 RCV003387820 RCV005891082

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
TIA1-related disorder
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA1697407

rs_116621885

7 SubmittersRCV000250393 RCV000516506 RCV000859341 RCV003891965 RCV003989508

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

11 SubmittersRCV000242491 RCV000535702 RCV000625252 RCV001154682 RCV001576573

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

SNV
Germline

Chr14:73211830

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256904

rs_201776669

6 SubmittersRCV000245357 RCV000285032 RCV000342174 RCV000861613 RCV001528384

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

SNV
Germline

Chr5:179823038

Pathogenic

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

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
TBK1-related disorder
not specified
Autoinflammation with arthritis and vasculitis
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6668820

rs_55824172

6 SubmittersRCV000492091 RCV001855019 RCV004745316 RCV005238811 RCV005396861 RCV006434429

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

SNV
Germline

Chr12:64481858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA238264724

rs_905184241

4 SubmittersRCV000492371 RCV000520272 RCV001855020 RCV006263816

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
Brooke-Spiegler syndrome
Familial cylindromatosis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Trichoepithelioma, multiple familial, 1
Multiple monogenic benign skin tumours
Brooke-Spiegler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590069

rs_886040872

8 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV003469207 RCV005016661 RCV006456915 RCV006554511

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
SLC35A2-congenital disorder of glycosylation
Condition: not provided
Multiple monogenic benign skin tumours

Criteria Provided
Multiple Submitters
No Conflicts

CA10590086

rs_886040888

6 SubmittersRCV000257977 RCV002466483 RCV003469208 RCV005861098 RCV006462287 RCV006648395

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

7 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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Spastic paraplegia
Inborn genetic diseases
VCP-related disorder
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

CA10603200

rs_121909332

10 SubmittersRCV000280148 RCV000761344 RCV001095441 RCV001215048 RCV001391611 RCV002436094 RCV004734912 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
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
not specified
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039215

rs_147623367

13 SubmittersRCV000321351 RCV001081085 RCV001168925 RCV001168167 RCV001580089 RCV002401981 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

10 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2500938

rs_192188850

5 SubmittersRCV000390491 RCV000516998 RCV003401367 RCV006277810

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3600618

rs_140341924

3 SubmittersRCV000293194 RCV001365629 RCV005632381

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

SNV
Germline

Chr9:35060929

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5039263

rs_370296303

2 SubmittersRCV000299794 RCV003766109 RCV000354748

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_000021.4(PSEN1):c.21G>A (p.Pro7=)

SNV
Germline

Chr14:73148040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256643

rs_116466962

2 SubmittersRCV000300122 RCV000406851 RCV005213263

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

Criteria Provided
Conflicting Classifications

CA7256797

rs_115760359

2 SubmittersRCV000277519 RCV000325529 RCV000954050

NM_000021.4(PSEN1):c.337C>T (p.Leu113=)

SNV
Germline

Chr14:73171046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256710

rs_201500006

2 SubmittersRCV000331752 RCV000370131 RCV001850658

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
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3
PSEN1-related disorder

Criteria Provided
Conflicting Classifications

CA7256899

rs_116640707

5 SubmittersRCV000329570 RCV000377075 RCV000874610 RCV001088486 RCV004752845

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

7 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_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

3 SubmittersRCV000498690 RCV003766796

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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
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_000021.4(PSEN1):c.799C>G (p.Pro267Ala)

SNV
Germline

Chr14:73198060

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA390301959

rs_63751229

4 SubmittersRCV000516919 RCV003480665 RCV004586752 RCV006556150

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

SNV
Germline

Chr9:35067915

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

CA5039527

rs_779959657

3 SubmittersRCV000520021 RCV002231635

NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)

SNV
Germline

Chr5:179833040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600669

rs_182522590

3 SubmittersRCV000544306 RCV005742069 RCV004791567

NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu)

SNV
Germline

Chr5:179833705

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600795

rs_375495050

4 SubmittersRCV000550465 RCV004543226 RCV004707341

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

SNV
Germline

Chr9:35066694

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

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

Criteria Provided
Conflicting Classifications

CA5039291

rs_148329626

8 SubmittersRCV000534353 RCV001579523 RCV002350262 RCV004537963 RCV005860102

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
not specified

Criteria Provided
Conflicting Classifications

CA5039169

rs_141275388

5 SubmittersRCV000598527 RCV001403231 RCV002413682 RCV004530715 RCV006692309

NM_007126.5(VCP):c.1929C>T (p.Ile643=)

SNV
Germline

Chr9:35059568

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA464601983

rs_1554668168

3 SubmittersRCV000591899 RCV002413684 RCV006556336

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

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

3 SubmittersRCV000635209 RCV001128500

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

SNV
Germline

Chr22:23766263

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

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

CA8618051

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

CA5039304

rs_183223259

7 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

CA373292088

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6669199

rs_144370662

5 SubmittersRCV000704095 RCV003980319 RCV004692186 RCV006452851

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

SNV
Germline

Chr14:73206384

Pathogenic

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

Criteria Provided
Single Submitter

CA390304667

rs_1566650594

1 SubmittersRCV000703026

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

SNV
Germline

Chr22:23766261

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410915171

rs_1252496774

3 SubmittersRCV000688111 RCV002440432 RCV004692092

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

SNV
Germline

Chr22:23766225

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10145261

rs_9153

2 SubmittersRCV000685394 RCV001268858

NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)

SNV
Germline

Chr5:179821121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600384

rs_774355338

4 SubmittersRCV000713545 RCV001422461 RCV006699322

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

CA5297156

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
Pick disease
Frontotemporal dementia
Acne inversa, familial, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA390299466

rs_1555355250

2 SubmittersRCV000712873 RCV001055042

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

SNV
Germline

Chr9:35067916

Pathogenic

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

CA373293400

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
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

CA5039174

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
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

CA464602374

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

Criteria Provided
Conflicting Classifications

CA5039286

rs_375262833

6 SubmittersRCV000729642 RCV001221457 RCV002386295 RCV006459870

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

SNV
Germline

Chr9:35060520

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

CA464403788

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

CA373293355

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
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

CA5039496

rs_549915384

5 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

CA390304742

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

CA390304909

rs_1566630884

1 SubmittersRCV000736260

NM_000021.4(PSEN1):c.424G>A (p.Val142Ile)

SNV
Germline

Chr14:73173651

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA390304971

rs_1566630910

2 SubmittersRCV000736266 RCV004796295

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

SNV
Germline

Chr14:73206385

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390304669

rs_63750219

4 SubmittersRCV000736261 RCV002470967 RCV002533770

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

SNV
Germline

Chr17:44351795

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA500622174

rs_1567887777

3 SubmittersRCV000736255 RCV005897272 RCV006556610

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

SNV
Unknown

Chr17:44352373

Pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

CA399769785

rs_1567888461

1 SubmittersRCV000736252

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

SNV
Germline

Chr17:46018672

Conflicting classifications of pathogenicity

Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA399983740

rs_1568339821

2 SubmittersRCV000736258

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

SNV
Germline

Chr12:64484379

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
TBK1-related disorder
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA385600197

rs_1328949478

5 SubmittersRCV000760459 RCV002536579 RCV004745579 RCV006649224

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

SNV
Germline

Chr14:73173583

Likely pathogenic

Frontotemporal dementia
Alzheimer disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA390304710

rs_1566630791

3 SubmittersRCV001196175 RCV000782176

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

CA385122454

rs_1592173638

1 SubmittersRCV000789008

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

SNV
Germline

Chr2:74370248

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Frontotemporal dementia
Inborn genetic diseases
Condition: not provided
DCTN1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1722213

rs_150368544

7 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838 RCV004745594 RCV006265283

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

SNV
Germline

Chr5:179833612

Pathogenic

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

Criteria Provided
Single Submitter

CA362452408

rs_1185406298

1 SubmittersRCV000795535

NM_002137.4(HNRNPA2B1):c.657T>C (p.Ser219=)

SNV
Germline

Chr7:26196402

Conflicting classifications of pathogenicity

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
HNRNPA2B1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4194563

rs_370050080

3 SubmittersRCV000819584 RCV004754574 RCV006440126

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

SNV
Germline

Chr14:73173574

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390304675

rs_63750730

2 SubmittersRCV000816670 RCV006265309

NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)

SNV
Germline

Chr14:73173628

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA390304887

rs_1595002439

2 SubmittersRCV000823608 RCV006694849

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

SNV
Germline

Chr14:73192721

Pathogenic

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

Criteria Provided
Single Submitter

CA390299412

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

CA8617596

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

CA399983634

rs_1598408073

2 SubmittersRCV000823456

NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)

SNV
Germline

Chr22:23767411

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

CA10145291

rs_767069606

2 SubmittersRCV000793823 RCV006342554

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
Condition: not provided
Inborn genetic diseases
CHCHD10-related disorder
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance

Criteria Provided
Conflicting Classifications

CA10145297

rs_374211312

8 SubmittersRCV000812293 RCV003145171 RCV002422795 RCV003411792 RCV004789214 RCV005250120

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

SNV
Germline

Chr12:64474391

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385597873

rs_1592362719

3 SubmittersRCV000797764 RCV001843550 RCV003411753

NM_000021.4(PSEN1):c.781G>A (p.Val261Ile)

SNV
Germline

Chr14:73198042

Pathogenic

Early onset Alzheimer disease with behavioral disturbance
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3
Alzheimer disease 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390301925

rs_63750964

3 SubmittersRCV000984884 RCV005225170 RCV006732201

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

CA2500884

rs_138886714

4 SubmittersRCV001148368 RCV001759655 RCV003392657

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

SNV
Germline

Chr5:179823047

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

CA3600440

rs_537142935

3 SubmittersRCV000878251 RCV003141887

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

SNV
Germline

Chr5:179823884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600472

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

CA3600532

rs_199931327

5 SubmittersRCV000876784 RCV001151637 RCV003432850 RCV004541755

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

SNV
Germline

Chr5:179824197

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

CA3600562

rs_567433223

6 SubmittersRCV000877928 RCV001724184

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

SNV
Germline

Chr14:73170943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256698

rs_143782428

6 SubmittersRCV000878970 RCV001120366 RCV001120367 RCV003259007 RCV002539275 RCV005056658

NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)

SNV
Germline

Chr5:179825206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600632

rs_762767720

2 SubmittersRCV000946105 RCV004962966

NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)

SNV
Germline

Chr5:179836471

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600858

rs_201795943

3 SubmittersRCV000952476 RCV004735912 RCV005742138

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

SNV
Germline

Chr9:35063057

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
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039387

rs_201610567

3 SubmittersRCV000946065 RCV001395321 RCV004726741

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

SNV
Germline

Chr14:73198053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256824

rs_150301281

4 SubmittersRCV000896851 RCV001115471 RCV001115472 RCV005865420 RCV004753094

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

SNV
Germline

Chr5:179821148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA133095079

rs_912066047

4 SubmittersRCV000951194 RCV003141903 RCV004789283

NM_001377265.1(MAPT):c.1453C>T (p.Leu485Phe)

SNV
Germline

Chr17:45989923

Conflicting classifications of pathogenicity

Frontotemporal dementia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8617903

rs_199759929

2 SubmittersRCV001393993 RCV004808989

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

SNV
Unknown

Chr1:11022538

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

CA338368233

rs_1570725499

1 SubmittersRCV000986235

NM_007126.5(VCP):c.888T>C (p.Asn296=)

SNV
Germline

Chr9:35062274

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

CA192680500

rs_921092914

2 SubmittersRCV000999153 RCV006556889

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

CA480553577

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

CA385596028

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
Papillary renal cell carcinoma type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA385599596

rs_1341055534

6 SubmittersRCV000995897 RCV001196463 RCV003333118 RCV005912226

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

SNV
Germline

Chr14:73192712

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390299366

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

CA399983887

rs_1598408336

1 SubmittersRCV000995805

NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)

SNV
Germline

Chr5:179823930

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600491

rs_769325755

4 SubmittersRCV001041398 RCV001546334 RCV004536076 RCV005436964

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

CA362453763

rs_1247551175

1 SubmittersRCV001060204

NM_007126.5(VCP):c.648A>G (p.Ile216Met)

SNV
Germline

Chr9:35064214

Likely pathogenic

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

Criteria Provided
Single Submitter

CA373286752

rs_1828783140

2 SubmittersRCV001038094 RCV002463580

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

SNV
Germline

Chr14:73173702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA390305134

rs_1897961716

2 SubmittersRCV001067591 RCV003222216

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

SNV
Germline

Chr14:73219139

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390305963

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

CA361757210

rs_1757092904

2 SubmittersRCV001090101 RCV003558660

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
CHMP2B-related disorder
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA2500934

rs_200792883

5 SubmittersRCV001092352 RCV001241565 RCV004746237 RCV005367717

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

SNV
Germline

Chr9:35065255

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
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

CA373288667

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
Hereditary spastic paraplegia 10

Criteria Provided
Conflicting Classifications

CA385517000

rs_1882640177

3 SubmittersRCV001095391 RCV002555972 RCV005253723

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

CA385599317

rs_1284582102

2 SubmittersRCV001095423

NM_000021.4(PSEN1):c.80G>A (p.Arg27His)

SNV
Germline

Chr14:73148099

Conflicting classifications of pathogenicity

Alzheimer disease 3
Dilated cardiomyopathy 1U
not specified
Pick disease
Acne inversa, familial, 3
Alzheimer disease 3
Frontotemporal dementia
Colon adenocarcinoma

Criteria Provided
Conflicting Classifications

CA7256652

rs_149562759

4 SubmittersRCV001120055 RCV001120056 RCV004689997 RCV005213458 RCV005913768

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

CA8617493

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

CA8618036

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8618249

rs_746312281

3 SubmittersRCV001122794 RCV003629149 RCV005256742

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

CA291112287

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

CA2500882

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

CA2501012

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

Criteria Provided
Conflicting Classifications

CA3600513

rs_775988188

3 SubmittersRCV001151636 RCV001343979 RCV004734034

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

SNV
Germline

Chr5:179824265

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

CA3600578

rs_771036207

2 SubmittersRCV001151638 RCV002070838

NM_007126.5(VCP):c.794T>C (p.Phe265Ser)

SNV
Germline

Chr9:35062995

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

CA373286351

rs_1828756507

2 SubmittersRCV001167604 RCV001167605 RCV004768884

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
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

CA5039492

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

CA192695224

rs_188935092

2 SubmittersRCV001165910 RCV001165911 RCV002264211

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

SNV
Germline

Chr9:35065385

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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

CA5039455

rs_370700002

2 SubmittersRCV001168236 RCV001168237 RCV001873558

NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)

SNV
Germline

Chr9:35061665

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
Charcot-Marie-Tooth disease type 2Y

Criteria Provided
Conflicting Classifications

CA373283571

rs_1828723406

4 SubmittersRCV001237563 RCV001760253 RCV002471052

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

SNV
Germline

Chr14:73171017

Likely pathogenic

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

Criteria Provided
Single Submitter

CA390303543

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

CA373293267

rs_1828864269

1 SubmittersRCV001253196

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

SNV
Germline

Chr14:73170972

Pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

CA390303304

rs_1897874329

1 SubmittersRCV001261949

NM_001377265.1(MAPT):c.1676A>G (p.Asn559Ser)

SNV
Germline

Chr17:45991530

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA8617973

rs_150420625

4 SubmittersRCV001267188 RCV001289089 RCV006557297

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

SNV
Germline

Chr9:35061587

Likely pathogenic

FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES
Condition: not provided

Criteria Provided
Single Submitter

CA373282926

rs_1828721782

2 SubmittersRCV001271084 RCV004797923

NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr)

SNV
Germline

Chr14:73198060

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390301958

rs_63751229

2 SubmittersRCV001281064 RCV005225347

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

SNV
Germline

Chr16:2455540

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7842751

rs_778264897

4 SubmittersRCV001281085 RCV003426024

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

CA276812362

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

CA7842754

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

CA1697401

rs_757332023

3 SubmittersRCV001281089 RCV001365839 RCV003132375

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

SNV
Germline

Chr16:50791604

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Conflicting Classifications

CA395878910

rs_1971438573

3 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

CA1139659286

rs_1757883398

2 SubmittersRCV001288015 RCV002069539

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

SNV
Germline

Chr14:73192840

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390299857

rs_1362575880

5 SubmittersRCV001289155 RCV001378264 RCV003918832 RCV005910909

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

SNV
Germline

Chr14:73219194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256970

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
Autoinflammation with arthritis and vasculitis

Criteria Provided
Single Submitter

CA385601326

rs_769588220

3 SubmittersRCV001291944 RCV004601430

NM_007126.5(VCP):c.265C>T (p.Arg89Trp)

SNV
Germline

Chr9:35067928

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

Criteria Provided
Conflicting Classifications

CA373293559

rs_1828865320

2 SubmittersRCV001308126 RCV004720847

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

CA362441988

rs_1302810798

3 SubmittersRCV001319264 RCV001563679 RCV002473267

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

SNV
Germline

Chr14:73171054

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2146469735

rs_1897878139

3 SubmittersRCV001326693 RCV005253801 RCV006437040

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

CA385600374

rs_765106259

2 SubmittersRCV001328679

NM_007126.5(VCP):c.577-2A>G

SNV
Germline

Chr9:35064287

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

CA373287295

rs_1828784075

1 SubmittersRCV001341264

NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys)

SNV
Germline

Chr14:73192762

Pathogenic

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

Criteria Provided
Single Submitter

CA390299625

rs_1898776259

1 SubmittersRCV001350081

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

SNV
Germline

Chr5:179822996

Pathogenic

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

Criteria Provided
Single Submitter

CA362443062

rs_1425863340

1 SubmittersRCV001390972

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

SNV
Germline

Chr5:179836480

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3600862

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

CA385606473

rs_2136088420

1 SubmittersRCV001388492

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

SNV
Germline

Chr9:35065386

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
not specified

Criteria Provided
Conflicting Classifications

CA5039457

rs_541980846

3 SubmittersRCV001394423 RCV002329415 RCV005432701

NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln)

SNV
Germline

Chr14:73170870

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256690

rs_201216284

2 SubmittersRCV001392197 RCV005712504

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

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA322574089

rs_868345557

2 SubmittersRCV001395837 RCV002329417

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

SNV
Germline

Chr5:179833185

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

CA3600721

rs_143746604

3 SubmittersRCV001422431 RCV003317495

NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)

SNV
Germline

Chr5:179824198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600563

rs_535606152

2 SubmittersRCV001482351 RCV004681201

NM_000021.4(PSEN1):c.-136+213G>A

SNV
Germline

Chr14:73136796

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA262598657

rs_199959804

3 SubmittersRCV001495274 RCV003399258 RCV006689257

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

SNV
Germline

Chr5:179836543

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

CA3600875

rs_757212984

3 SubmittersRCV001508538 RCV001882557

NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)

SNV
Germline

Chr17:45971901

Conflicting classifications of pathogenicity

Frontotemporal dementia
Condition: not provided
MAPT-related disorder

Criteria Provided
Conflicting Classifications

CA8617543

rs_143138715

5 SubmittersRCV001521462 RCV001685408 RCV003956205

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

SNV
Germline

Chr6:41158955

Pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

CA364057498

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

CA367070916

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

Criteria Provided
Conflicting Classifications

CA390301928

rs_199723282

4 SubmittersRCV001810075 RCV002473293 RCV002568920 RCV004785268

NM_000021.4(PSEN1):c.1247T>C (p.Ile416Thr)

SNV
Germline

Chr14:73217243

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390305937

rs_2140145565

2 SubmittersRCV001810076 RCV005225421

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

SNV
Germline

Chr14:73219164

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA390306012

rs_1398951357

3 SubmittersRCV001810077 RCV001873794 RCV005432747

NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)

SNV
Germline

Chr5:179833101

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
SQSTM1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3600700

rs_201923000

6 SubmittersRCV001576971 RCV001882690 RCV002569088 RCV004734240 RCV005437282

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

SNV
Germline

Chr9:35068366

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

CA1123167041

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

CA6669005

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

CA133109718

rs_765610848

3 SubmittersRCV001868769 RCV003238467

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

SNV
Germline

Chr9:35060823

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

CA5039250

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

CA6668769

rs_757203783

2 SubmittersRCV001825077

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

SNV
Unknown

Chr15:78635465

Likely pathogenic

Frontotemporal dementia

No Assertion Criteria Provided

CA393586206

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

CA7684925

rs_774714066

1 SubmittersRCV001848609

NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)

SNV
Germline

Chr9:132330484

Conflicting classifications of pathogenicity

Frontotemporal dementia
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297819

rs_145145045

3 SubmittersRCV001848614 RCV002440902 RCV005213616

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

SNV
Germline

Chr12:64484500

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

CA385600519

rs_2136078402

1 SubmittersRCV002039154

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

SNV
Germline

Chr14:73211942

Pathogenic

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

Criteria Provided
Single Submitter

CA390305683

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

CA373293471

rs_1563980966

1 SubmittersRCV002015462

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

SNV
Germline

Chr12:64484500

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

CA385600515

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

CA751787945

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

CA362452294

rs_2113512370

1 SubmittersRCV001977620

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

SNV
Germline

Chr9:35067920

Likely pathogenic

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

Criteria Provided
Single Submitter

CA373293470

rs_1563980966

1 SubmittersRCV001908873

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

SNV
Germline

Chr9:35065355

Pathogenic

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

Criteria Provided
Single Submitter

CA373289580

rs_1554668813

1 SubmittersRCV001953725

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

SNV
Germline

Chr9:35065358

Pathogenic

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

Criteria Provided
Single Submitter

CA373289608

rs_1554668814

1 SubmittersRCV001972632

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

SNV
Germline

Chr9:35065364

Pathogenic

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

Criteria Provided
Single Submitter

CA373289661

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

CA367072089

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
SQSTM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA362453134

rs_1391182750

2 SubmittersRCV001949681 RCV006691164

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

SNV
Germline

Chr17:45962417

Conflicting classifications of pathogenicity

Frontotemporal dementia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8617510

rs_769331823

3 SubmittersRCV001921514 RCV002560453 RCV006702991

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

CA6668963

rs_758357594

1 SubmittersRCV002000195

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

SNV
Germline

Chr14:73192845

Pathogenic

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

Criteria Provided
Single Submitter

CA390299886

rs_1898781850

1 SubmittersRCV002037964

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

SNV
Germline

Chr14:73192735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA390299492

rs_63751003

2 SubmittersRCV001900646 RCV004762214

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

SNV
Germline

Chr12:64486012

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385601359

rs_2136079548

2 SubmittersRCV001901321 RCV005370023

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

CA390302176

rs_2140105309

1 SubmittersRCV001949489

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

SNV
Germline

Chr5:179836501

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3600867

rs_143511494

7 SubmittersRCV001972785 RCV003147715 RCV003333197 RCV004734369 RCV004719211 RCV005370079

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

CA5039526

rs_758169026

1 SubmittersRCV002018336

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

SNV
Germline

Chr5:179823054

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA362443278

rs_2113485289

2 SubmittersRCV001908192 RCV006257343

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

CA6668722

rs_748061846

2 SubmittersRCV001948003 RCV003992581

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

SNV
Germline

Chr14:73192840

Likely pathogenic

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

Criteria Provided
Single Submitter

CA390299862

rs_1362575880

1 SubmittersRCV001980594

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

SNV
Germline

Chr14:73219262

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256976

rs_201496204

5 SubmittersRCV002043451 RCV002486747 RCV003913489 RCV004694150 RCV004999613

NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser)

SNV
Germline

Chr14:73211876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256915

rs_376433615

3 SubmittersRCV002148365 RCV004690257 RCV006437135

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

CA587568770

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

Criteria Provided
Conflicting Classifications

CA238264720

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

CA6669278

rs_534404556

2 SubmittersRCV002153421

NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val)

SNV
Germline

Chr5:179825146

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

CA3600612

rs_202235745

2 SubmittersRCV002083669 RCV005054402

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

SNV
Germline

Chr14:73170854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256689

rs_200373970

3 SubmittersRCV002088756 RCV003007081 RCV005238240

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

CA385606855

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

CA6668770

rs_200879808

1 SubmittersRCV002283871

NM_001377265.1(MAPT):c.1795G>A (p.Gly599Ser)

SNV
Germline

Chr17:45996461

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA8618035

rs_771662961

3 SubmittersRCV002292042 RCV003097803

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

CA385605778

rs_2539537276

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

CA3600860

rs_771657338

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

CA385592734

rs_1555201919

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

CA385603171

rs_1280163869

1 SubmittersRCV003062524

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

SNV
Germline

Chr14:73173654

Likely pathogenic

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

Criteria Provided
Single Submitter

CA390304983

rs_63750322

1 SubmittersRCV003062642

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

SNV
Germline

Chr14:73173703

Pathogenic

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

Criteria Provided
Single Submitter

CA390305138

rs_778630379

1 SubmittersRCV003062643

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

SNV
Germline

Chr9:35065361

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

CA373289624

rs_1554668817

2 SubmittersRCV003037322 RCV005227805

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

SNV
Germline

Chr5:179833178

Pathogenic

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

Criteria Provided
Single Submitter

CA362451702

rs_1258386028

1 SubmittersRCV003090306

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

SNV
Germline

Chr5:179824007

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

CA362443972

rs_1166729262

2 SubmittersRCV003090091 RCV003328713

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

SNV
Germline

Chr14:73192861

Pathogenic

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

Criteria Provided
Single Submitter

CA390299975

rs_2502941276

1 SubmittersRCV003112298

NM_003900.5(SQSTM1):c.1166-2A>G

SNV
Germline

Chr5:179836434

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

CA362453565

rs_2480264648

2 SubmittersRCV002587274 RCV004725314

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

SNV
Germline

Chr14:73198106

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390302267

rs_63750050

2 SubmittersRCV002601742 RCV006437154

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

SNV
Germline

Chr5:179821143

Likely pathogenic

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

Criteria Provided
Single Submitter

CA362442577

rs_1757759029

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

CA390303235

rs_2503063102

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

CA385602681

rs_2539525878

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

CA385601638

rs_1461457058

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

CA385599400

rs_369620088

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

CA385604526

rs_2539534855

1 SubmittersRCV002847242

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

SNV
Germline

Chr9:35066738

Likely pathogenic

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

Criteria Provided
Single Submitter

CA373291998

rs_2490370338

1 SubmittersRCV002876342

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

SNV
Germline

Chr14:73170983

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA390303353

rs_2503063306

2 SubmittersRCV002876347 RCV003222446

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

SNV
Germline

Chr17:46010418

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

CA2576299117

rs_63751011

1 SubmittersRCV002914169

NM_007126.5(VCP):c.266G>A (p.Arg89Gln)

SNV
Germline

Chr9:35067927

Pathogenic

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

Criteria Provided
Single Submitter

CA192683160

rs_900105227

1 SubmittersRCV002927327

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

CA385597878

rs_2539503647

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

CA362451178

rs_2480244231

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

CA385601292

rs_2539520026

1 SubmittersRCV003019974

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

SNV
Unknown

Chr17:46018710

Pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

CA399983890

rs_1598408336

1 SubmittersRCV003315208

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

SNV
Germline

Chr14:73170804

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7256670

rs_200824179

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

CA373286437

rs_2490360233

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
Frontotemporal dementia
Pick disease
Acne inversa, familial, 3

Criteria Provided
Conflicting Classifications

CA390301923

rs_63751420

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

CA385598395

rs_2539511036

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

CA385605880

rs_2539537429

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

CA385606810

rs_1565824978

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

CA385594279

rs_2539482429

1 SubmittersRCV003753864

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

SNV
Germline

Chr14:73219191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA390306071

rs_63749925

3 SubmittersRCV003994584 RCV003785387

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

SNV
Germline

Chr14:73170959

Pathogenic

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

Criteria Provided
Single Submitter

CA390303217

rs_749249788

1 SubmittersRCV003783616

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

SNV
Germline

Chr14:73206384

Pathogenic

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

Criteria Provided
Single Submitter

CA390304665

rs_1566650594

1 SubmittersRCV003783617

NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)

SNV
Germline

Chr22:23767420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10145293

rs_766054125

2 SubmittersRCV003787835 RCV006449181

NM_003900.5(SQSTM1):c.206-2A>G

SNV
Germline

Chr5:179822956

Likely pathogenic

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

Criteria Provided
Single Submitter

CA3600414

rs_373306317

1 SubmittersRCV003792197

NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)

SNV
Germline

Chr5:179833728

Pathogenic

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

Criteria Provided
Single Submitter

CA362452937

rs_1261101487

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

CA362452318

rs_1758351897

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

CA373293362

rs_121909332

1 SubmittersRCV003813702

NM_001377265.1(MAPT):c.1993G>A (p.Gly665Arg)

SNV
Germline

Chr17:45996659

Conflicting classifications of pathogenicity

Frontotemporal dementia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA399978468

rs_1247408229

2 SubmittersRCV003810929 RCV004790628

NM_013254.4(TBK1):c.608A>G (p.Asp203Gly)

SNV
Germline

Chr12:64474297

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

No Assertion Criteria Provided

1 SubmittersRCV004767607

NM_013254.4(TBK1):c.1760+1G>A

SNV
Germline

Chr12:64496407

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005055407

NM_013254.4(TBK1):c.1693C>T (p.Gln565Ter)

SNV
Germline

Chr12:64495748

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV004765475

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

SNV
Germline

Chr12:64488486

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Incidental Discovery

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005071141 RCV005629868

NM_013254.4(TBK1):c.281T>C (p.Leu94Ser)

SNV
Germline

Chr12:64464386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005203018 RCV006278162

NM_013254.4(TBK1):c.889C>T (p.Gln297Ter)

SNV
Germline

Chr12:64481918

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005198641

NM_003900.5(SQSTM1):c.686C>A (p.Ser229Ter)

SNV
Germline

Chr5:179825158

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005213095

NM_000021.4(PSEN1):c.416T>A (p.Met139Lys)

SNV
Germline

Chr14:73173643

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005221339 RCV005241143

NM_000021.4(PSEN1):c.1300G>A (p.Ala434Thr)

SNV
Germline

Chr14:73219185

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005221340 RCV005407422

NM_003900.5(SQSTM1):c.206-1G>C

SNV
Germline

Chr5:179822957

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005212578

NM_003900.5(SQSTM1):c.571G>T (p.Gly191Ter)

SNV
Germline

Chr5:179824221

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005216396

NM_007126.5(VCP):c.410C>T (p.Pro137Leu)

SNV
Germline

Chr9:35066710

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2Y
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

2 SubmittersRCV005238702 RCV006567145

NM_001377265.1(MAPT):c.2027T>A (p.Leu676His)

SNV
Germline

Chr17:46010338

Likely pathogenic

Frontotemporal dementia

Criteria Provided
Single Submitter

1 SubmittersRCV005358300

NM_014043.4(CHMP2B):c.617A>C (p.Gln206Pro)

SNV
Germline

Chr3:87253797

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005410120

NM_000021.4(PSEN1):c.1168A>G (p.Ser390Gly)

SNV
Germline

Chr14:73217164

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005417356 RCV006567524

NM_000021.4(PSEN1):c.784T>G (p.Leu262Val)

SNV
Germline

Chr14:73198045

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005622857 RCV006568380

NM_007126.5(VCP):c.563C>A (p.Pro188His)

SNV
Germline

Chr9:35065264

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005622902

NM_001377265.1(MAPT):c.220+2504G>A

SNV
Germline

Chr17:45974449

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005868750 RCV006490022

NM_013254.4(TBK1):c.1521+1G>A

SNV
Germline

Chr12:64490120

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV006455014

NM_013254.4(TBK1):c.1694A>C (p.Gln565Pro)

SNV
Germline

Chr12:64495749

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006509715

NM_013254.4(TBK1):c.358+1G>T

SNV
Germline

Chr12:64464464

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV006524666

NM_013254.4(TBK1):c.1765A>T (p.Lys589Ter)

SNV
Germline

Chr12:64496953

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV006536608

NM_000021.4(PSEN1):c.1164C>G (p.Phe388Leu)

SNV
Germline

Chr14:73217160

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV006598423

NM_003900.5(SQSTM1):c.838G>T (p.Glu280Ter)

SNV
Germline

Chr5:179833115

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV006598512

NM_002739.5(PRKCG):c.334A>G (p.Thr112Ala)

SNV
Germline

Chr19:53889686

Likely pathogenic

Frontotemporal dementia
Ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV006694108