Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp)	SNV Germline	Chr4:127930752	Likely pathogenic	Neuronal ceroid lipofuscinosis 7	Criteria Provided Single Submitter	CA251659	rs_118203975	2 SubmittersRCV000001056
NM_001371596.2(MFSD8):c.1286G>A (p.Gly429Asp)	SNV Germline	Chr4:127921588	Pathogenic	Neuronal ceroid lipofuscinosis 7	No Assertion Criteria Provided	CA251660	rs_118203976	1 SubmittersRCV000001057
NM_001371596.2(MFSD8):c.894T>G (p.Tyr298Ter)	SNV Germline	Chr4:127930787	Pathogenic	Neuronal ceroid lipofuscinosis 7 Condition: not provided Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement	Criteria Provided Multiple Submitters No Conflicts	CA251661	rs_118203977	4 SubmittersRCV000001058 RCV001781154 RCV005031377
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys)	SNV Germline	Chr4:127943829	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 7 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA251663	rs_118203978	4 SubmittersRCV000001059 RCV000188166 RCV004700177
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	SNV Germline	Chr4:127921639	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 7 Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement	Criteria Provided Multiple Submitters No Conflicts	CA251664	rs_267607235	9 SubmittersRCV000001060 RCV003137482 RCV002316184 RCV002222334 RCV002496222
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)	SNV Germline	Chr4:127930800	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 7 Condition: not provided Late-infantile neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA339858	rs_140948465	10 SubmittersRCV000001061 RCV001781155 RCV001826401 RCV002371752
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)	SNV Germline	Chr13:76992176	Pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA340000	rs_104894385	6 SubmittersRCV000002674 RCV000689128
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)	SNV Germline	Chr13:77000580	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA252327	rs_28940280	6 SubmittersRCV000002675 RCV000989152 RCV004689404
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	SNV Germline	Chr13:76995077	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252330	rs_104894386	8 SubmittersRCV000002676 RCV000698933 RCV003128567
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)	SNV Germline	Chr13:77000799	Pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA252333	rs_121908292	4 SubmittersRCV000002677 RCV002512684
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)	SNV Germline	Chr13:76995119	Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA252336	rs_267606738	2 SubmittersRCV000002678 RCV001039257
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	SNV Germline	Chr13:77000866	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 5 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA252339	rs_148862100	7 SubmittersRCV000002679 RCV000493479 RCV001318349
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)	SNV Germline	Chr11:6616057	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis TPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252376	rs_119455953	5 SubmittersRCV000002760 RCV001248011 RCV004579515 RCV004554579
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	SNV Germline	Chr11:6616056	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 TPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252377	rs_119455954	11 SubmittersRCV000002761 RCV000189781 RCV000526403 RCV002496238 RCV004758587
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	SNV Germline	Chr11:6617040	Pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis Inborn genetic diseases Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Abnormality of the nervous system TPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA319182	rs_119455955	30 SubmittersRCV000002762 RCV000230952 RCV000210605 RCV000189769 RCV000763267 RCV001813939 RCV004554580
NM_000391.4(TPP1):c.509-1G>C	SNV Germline	Chr11:6617154	Pathogenic	Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases Neuronal ceroid lipofuscinosis Condition: not provided TPP1-related disorder Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA145458	rs_56144125	37 SubmittersRCV000002763 RCV000074608 RCV000210689 RCV000228119 RCV000189765 RCV004554581 RCV000763268
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	SNV Germline	Chr11:6615256	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA252378	rs_119455956	9 SubmittersRCV000002764 RCV000189790 RCV005049313
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)	SNV Germline	Chr11:6617046	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252379	rs_28940573	7 SubmittersRCV000002765 RCV001382645
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)	SNV Germline	Chr11:6616696	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA252380	rs_119455957	6 SubmittersRCV000002766 RCV000531153 RCV000763266
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)	SNV Germline	Chr11:6616690	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA252381	rs_119455958	4 SubmittersRCV000002767 RCV001851588
NM_000391.4(TPP1):c.887-10A>G	SNV Germline	Chr11:6616513	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Conflicting Classifications	CA252382	rs_755445790	5 SubmittersRCV000002768 RCV000359791 RCV005049314
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)	SNV Germline	Chr8:1771124	Pathogenic	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Multiple Submitters No Conflicts	CA340024	rs_104894064	6 SubmittersRCV000002936 RCV000820654 RCV000409951 RCV005041973
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)	SNV Germline	Chr8:1780495	Pathogenic	Neuronal ceroid lipofuscinosis 8 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA252416	rs_28940569	3 SubmittersRCV000002937 RCV001090293 RCV001851598
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	SNV Germline	Chr8:1780316	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant CLN8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252418	rs_104894060	9 SubmittersRCV000002938 RCV000805014 RCV002225256 RCV000763180 RCV002291264
NM_018941.4(CLN8):c.88G>C (p.Ala30Pro)	SNV Germline	Chr8:1771142	Pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA252420	rs_137852883	1 SubmittersRCV000002940
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	SNV Germline	Chr16:28482500	Pathogenic	Ceroid lipofuscinosis, neuronal, 3, protracted early onset and severe retinal dystrophy Retinal dystrophy Neuronal ceroid lipofuscinosis 3 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA116344	rs_121434286	11 SubmittersRCV000003735 RCV001270479 RCV001074385 RCV000055839 RCV004791194 RCV000811923 RCV002512720
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	SNV Germline	Chr16:28486427	Pathogenic	Ceroid lipofuscinosis, neuronal, 3, protracted Neuronal ceroid lipofuscinosis 3 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA116348	rs_267606737	8 SubmittersRCV000003736 RCV000169443 RCV000760368 RCV000823290
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)	SNV Germline	Chr15:68214373	Pathogenic	Ceroid lipofuscinosis, neuronal, 6A Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Multiple Submitters No Conflicts	CA340155	rs_104894483	8 SubmittersRCV000004292 RCV000492979 RCV001067723 RCV002316185 RCV005003333
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)	SNV Germline	Chr15:68211793	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Condition: not provided	Criteria Provided Conflicting Classifications	CA252981	rs_104894484	5 SubmittersRCV000004294 RCV001851638 RCV005007822 RCV002468959
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	SNV Germline	Chr1:40091398	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA316952	rs_137852695	16 SubmittersRCV000009450 RCV000188724 RCV000581618 RCV000623227
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)	SNV Germline	Chr1:40092409	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Retinitis pigmentosa Inborn genetic diseases PPT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA254577	rs_137852696	13 SubmittersRCV000009451 RCV000188709 RCV001723555 RCV002426497 RCV003407309
NM_000310.4(PPT1):c.236A>G (p.Asp79Gly)	SNV Germline	Chr1:40092171	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254579	rs_137852697	3 SubmittersRCV000009452 RCV001571117
NM_000310.4(PPT1):c.656T>A (p.Leu219Gln)	SNV Germline	Chr1:40078630	Pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA254581	rs_137852698	1 SubmittersRCV000009453
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)	SNV Germline	Chr1:40097210	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA254584	rs_137852699	11 SubmittersRCV000009454 RCV000188716 RCV005406734 RCV002311509
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	SNV Germline	Chr1:40089495	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Neuronal Ceroid-Lipofuscinosis, Recessive Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases PPT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA316936	rs_137852700	35 SubmittersRCV000009455 RCV000352109 RCV000583336 RCV000188718 RCV002316187 RCV003398477
NM_000310.4(PPT1):c.322G>C (p.Gly108Arg)	SNV Germline	Chr1:40092085	Pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA254588	rs_137852701	1 SubmittersRCV000009458
NM_000310.4(PPT1):c.134G>A (p.Cys45Tyr)	SNV Germline	Chr1:40092498	Pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA254590	rs_137852702	2 SubmittersRCV000009459
NM_002087.4(GRN):c.2T>C (p.Met1Thr)	SNV Germline	Chr17:44349166	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Single Submitter	CA225193	rs_63751006	3 SubmittersRCV000017381 RCV000084419 RCV002513073
NM_002087.4(GRN):c.835+1G>A	SNV Germline	Chr17:44351164	Likely pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Single Submitter	CA257408	rs_606231221	2 SubmittersRCV000017385 RCV002513075
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)	SNV Germline	Chr17:44349190	Pathogenic	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	CA225199	rs_63751243	7 SubmittersRCV000017386 RCV000084421 RCV001851887
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)	SNV Germline	Chr17:44352404	Pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related disorder Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA225358	rs_63751294	9 SubmittersRCV000017387 RCV000084491 RCV001039647 RCV004755740 RCV005414320
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile)	SNV Germline	Chr11:1757343	Pathogenic	Neuronal ceroid lipofuscinosis 10	No Assertion Criteria Provided	CA258041	rs_121912789	1 SubmittersRCV000019134
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)	SNV Germline	Chr11:1753593	Pathogenic	Neuronal ceroid lipofuscinosis 10	No Assertion Criteria Provided	CA258042	rs_121912790	1 SubmittersRCV000019135
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	SNV Germline	Chr15:68211853	Pathogenic/Likely pathogenic	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Multiple Submitters No Conflicts	CA259851	rs_154774634	7 SubmittersRCV000058911 RCV000675061 RCV001378313 RCV001787031 RCV005003402
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)	SNV Germline	Chr7:66638912	Pathogenic/Likely pathogenic	Epilepsy, progressive myoclonic, 3, with intracellular inclusions Condition: not provided Progressive myoclonic epilepsy type 3 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA129977	rs_387907246	6 SubmittersRCV000030608 RCV000519234 RCV000548914 RCV001582502 RCV002513270
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)	SNV Germline	Chr7:66633410	Pathogenic/Likely pathogenic	Progressive myoclonic epilepsy type 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA130028	rs_387907260	7 SubmittersRCV000030687 RCV005417439
NM_000310.4(PPT1):c.114G>A (p.Trp38Ter)	SNV Germline	Chr1:40097125	Pathogenic	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA263458	rs_386833626	2 SubmittersRCV000049553 RCV005055553
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys)	SNV Germline	Chr1:40097125	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 not specified	Criteria Provided Conflicting Classifications	CA263461	rs_386833626	3 SubmittersRCV000049554 RCV005430954
NM_000310.4(PPT1):c.117T>A (p.His39Gln)	SNV Unknown	Chr1:40097122	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263468	rs_386833627	1 SubmittersRCV000049586
NM_000310.4(PPT1):c.124+1G>A	SNV Unknown	Chr1:40097114	Pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA263470	rs_386833628	2 SubmittersRCV000049587
NM_000310.4(PPT1):c.125-15T>G	SNV Germline	Chr1:40092522	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Single Submitter	CA263471	rs_386833629	2 SubmittersRCV000049588 RCV004589543
NM_000310.4(PPT1):c.125-2A>G	SNV Unknown	Chr1:40092509	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263472	rs_386833630	1 SubmittersRCV000049589
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)	SNV Germline	Chr1:40092507	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA263473	rs_386833631	5 SubmittersRCV000049590 RCV003317067
NM_000310.4(PPT1):c.163A>T (p.Lys55Ter)	SNV Unknown	Chr1:40092469	Pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA263478	rs_386833633	2 SubmittersRCV000049592
NM_000310.4(PPT1):c.235-3T>C	SNV Unknown	Chr1:40092175	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263483	rs_386833636	1 SubmittersRCV000049595
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)	SNV Germline	Chr1:40092135	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 not specified	Criteria Provided Conflicting Classifications	CA263490	rs_386833639	5 SubmittersRCV000049598 RCV004700344
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)	SNV Germline	Chr1:40092120	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA263493	rs_386833640	6 SubmittersRCV000049599 RCV005430955
NM_000310.4(PPT1):c.310A>T (p.Lys104Ter)	SNV Unknown	Chr1:40092097	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263496	rs_386833641	1 SubmittersRCV000049600
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)	SNV Germline	Chr1:40092082	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263499	rs_386833642	5 SubmittersRCV000049601 RCV000188711
NM_000310.4(PPT1):c.363-3T>G	SNV Unknown	Chr1:40091402	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263501	rs_386833643	1 SubmittersRCV000049602
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)	SNV Germline	Chr1:40097236	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA263503	rs_386833645	7 SubmittersRCV000049604 RCV000589397 RCV002225282 RCV002514251
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	SNV Germline	Chr1:40091349	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263506	rs_386833646	8 SubmittersRCV000049605 RCV003226183
NM_000310.4(PPT1):c.455G>A (p.Cys152Tyr)	SNV Unknown	Chr1:40089491	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263508	rs_386833647	1 SubmittersRCV000049606
NM_000310.4(PPT1):c.456C>A (p.Cys152Ter)	SNV Unknown	Chr1:40089490	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263510	rs_386833648	1 SubmittersRCV000049607
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)	SNV Germline	Chr1:40089456	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263513	rs_386833649	7 SubmittersRCV000049608 RCV004700345
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)	SNV Germline	Chr1:40089417	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263516	rs_386833650	6 SubmittersRCV000049609 RCV000188719
NM_000310.4(PPT1):c.536+1G>A	SNV Germline	Chr1:40089409	Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis Abnormality of the nervous system	Criteria Provided Single Submitter	CA263518	rs_386833651	3 SubmittersRCV000049610 RCV000584560 RCV001814032
NM_000310.4(PPT1):c.536+2T>C	SNV Unknown	Chr1:40089408	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263519	rs_386833652	1 SubmittersRCV000049611
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)	SNV Germline	Chr1:40080483	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Neuronal ceroid lipofuscinosis See cases	Criteria Provided Multiple Submitters No Conflicts	CA263521	rs_148412181	8 SubmittersRCV000049613 RCV000436288 RCV001526944 RCV004584340
NM_000310.4(PPT1):c.544C>T (p.Gln182Ter)	SNV Unknown	Chr1:40080480	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263523	rs_386833654	1 SubmittersRCV000049614
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)	SNV Germline	Chr1:40080474	Pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263526	rs_386833655	8 SubmittersRCV000049615 RCV000731854 RCV002345360 RCV003155060
NM_000310.4(PPT1):c.558G>A (p.Trp186Ter)	SNV Unknown	Chr1:40080466	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263529	rs_386833656	1 SubmittersRCV000049616
NM_000310.4(PPT1):c.560A>G (p.His187Arg)	SNV Unknown	Chr1:40080464	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263532	rs_386833657	1 SubmittersRCV000049617
NM_000310.4(PPT1):c.566C>G (p.Pro189Arg)	SNV Unknown	Chr1:40080458	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263534	rs_386833658	1 SubmittersRCV000049618
NM_000310.4(PPT1):c.628-1G>T	SNV Germline	Chr1:40078659	Pathogenic	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263536	rs_386833659	6 SubmittersRCV000049619 RCV000587410
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)	SNV Germline	Chr1:40078621	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Spastic ataxia Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263538	rs_386833661	6 SubmittersRCV000049621 RCV001646987 RCV001192781
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)	SNV Germline	Chr1:40078612	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA263540	rs_386833662	8 SubmittersRCV000049622 RCV001778693 RCV003328554
NM_000310.4(PPT1):c.683T>G (p.Val228Gly)	SNV Unknown	Chr1:40078603	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263543	rs_386833663	1 SubmittersRCV000049623
NM_000310.4(PPT1):c.727-2A>T	SNV Germline	Chr1:40076915	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263545	rs_386833664	5 SubmittersRCV000049624 RCV000224164
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)	SNV Germline	Chr1:40076901	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263546	rs_386833665	5 SubmittersRCV000049625 RCV000726872 RCV003317068
NM_000310.4(PPT1):c.749G>T (p.Gly250Val)	SNV Unknown	Chr1:40076891	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263548	rs_386833666	1 SubmittersRCV000049626
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter)	SNV Germline	Chr1:40074111	Pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA263551	rs_386833668	2 SubmittersRCV000049628
NM_000310.4(PPT1):c.886T>C (p.Trp296Arg)	SNV Unknown	Chr1:40074096	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263554	rs_386833669	1 SubmittersRCV000049629
NM_000310.4(PPT1):c.888G>A (p.Trp296Ter)	SNV Germline	Chr1:40074094	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA263556	rs_386833670	3 SubmittersRCV000049630 RCV001753468
NM_000310.4(PPT1):c.914T>C (p.Leu305Pro)	SNV Unknown	Chr1:40074068	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263559	rs_386833671	1 SubmittersRCV000049631
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)	SNV Germline	Chr16:28482161	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263593	rs_386833694	5 SubmittersRCV000049655 RCV000588369
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)	SNV Germline	Chr16:28482160	Pathogenic	Neuronal ceroid lipofuscinosis 3 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263597	rs_386833695	6 SubmittersRCV000049656 RCV004700346 RCV000696638
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)	SNV Germline	Chr16:28482107	Pathogenic	Neuronal ceroid lipofuscinosis 3 Condition: not provided Neuronal ceroid lipofuscinosis Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA263602	rs_386833697	10 SubmittersRCV000049658 RCV000579238 RCV001804785 RCV004814987
NM_001042432.2(CLN3):c.1056+3A>C	SNV Germline	Chr16:28482102	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263607	rs_386833698	5 SubmittersRCV000049659 RCV000819629
NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)	SNV Unknown	Chr16:28482105	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263608	rs_386833699	1 SubmittersRCV000049660
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)	SNV Germline	Chr16:28491502	Pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263613	rs_386833700	5 SubmittersRCV000049661 RCV001217036 RCV000760369
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)	SNV Germline	Chr16:28477739	Pathogenic	Neuronal ceroid lipofuscinosis 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263618	rs_386833701	5 SubmittersRCV000049662 RCV001091646
NM_001042432.2(CLN3):c.1198-1G>T	SNV Germline	Chr16:28477636	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA263623	rs_386833702	5 SubmittersRCV000049663 RCV001380722 RCV002336200
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)	SNV Germline	Chr16:28477586	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263624	rs_386833703	3 SubmittersRCV000049664 RCV003317069
NM_001042432.2(CLN3):c.125+5G>A	SNV Germline	Chr16:28491477	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263629	rs_386833704	3 SubmittersRCV000049665 RCV001051149
NM_001042432.2(CLN3):c.126-1G>A	SNV Unknown	Chr16:28489387	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263630	rs_386833705	1 SubmittersRCV000049666
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)	SNV Germline	Chr16:28477565	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	Criteria Provided Multiple Submitters No Conflicts	CA263631	rs_386833706	3 SubmittersRCV000049667
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)	SNV Germline	Chr16:28491759	Pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA263637	rs_386833708	2 SubmittersRCV000049669 RCV002513684
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)	SNV Germline	Chr16:28489298	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263642	rs_386833709	4 SubmittersRCV000049670 RCV000812617
NM_001042432.2(CLN3):c.222+2T>G	SNV Unknown	Chr16:28489288	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263647	rs_386833710	1 SubmittersRCV000049671
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)	SNV Germline	Chr16:28488620	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA263650	rs_386833713	5 SubmittersRCV000049674 RCV001199876 RCV002426609
NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro)	SNV Unknown	Chr16:28487734	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263656	rs_386833714	1 SubmittersRCV000049675
NM_001042432.2(CLN3):c.461-13G>C	SNV Unknown	Chr16:28486663	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263673	rs_386833721	1 SubmittersRCV000049682
NM_001042432.2(CLN3):c.461-1G>A	SNV Germline	Chr16:28486651	Pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA263674	rs_386833722	2 SubmittersRCV000049683 RCV001853042
NM_001042432.2(CLN3):c.461-1G>C	SNV Unknown	Chr16:28486651	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263675	rs_386833722	1 SubmittersRCV000049684
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter)	SNV Unknown	Chr16:28486629	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263681	rs_386833724	1 SubmittersRCV000049686
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)	SNV Unknown	Chr16:28486626	Pathogenic	Neuronal ceroid lipofuscinosis 3	Criteria Provided Single Submitter	CA263686	rs_386833725	2 SubmittersRCV000049687
NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter)	SNV Unknown	Chr16:28491558	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263691	rs_386833726	1 SubmittersRCV000049688
NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro)	SNV Germline	Chr16:28486602	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 3 not specified	Criteria Provided Conflicting Classifications	CA263696	rs_386833727	3 SubmittersRCV000049689 RCV004586525
NM_001042432.2(CLN3):c.533+1G>A	SNV Germline	Chr16:28486577	Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Retinal dystrophy	Criteria Provided Single Submitter	CA263700	rs_386833728	2 SubmittersRCV000049690 RCV001075762
NM_001042432.2(CLN3):c.533+1G>C	SNV Germline	Chr16:28486577	Pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA263701	rs_386833728	4 SubmittersRCV000049691 RCV001853043
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala)	SNV Unknown	Chr16:28486464	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263703	rs_386833730	1 SubmittersRCV000049693
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)	SNV Germline	Chr16:28486459	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263707	rs_386833731	3 SubmittersRCV000049694 RCV001853045
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)	SNV Germline	Chr16:28486393	Pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263724	rs_386833737	4 SubmittersRCV000049700 RCV001239013
NM_001042432.2(CLN3):c.790+3A>C	SNV Germline	Chr16:28484003	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 3 Condition: not provided Ceroid lipofuscinosis, neuronal, 3, protracted Neuronal ceroid lipofuscinosis not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA263729	rs_386833738	7 SubmittersRCV000049701 RCV000187036 RCV000625880 RCV001087503 RCV001797616 RCV004814988
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)	SNV Germline	Chr16:28482500	Pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263730	rs_121434286	7 SubmittersRCV000049702 RCV001055217 RCV001552759
NM_001042432.2(CLN3):c.906+5G>A	SNV Unknown	Chr16:28482472	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263735	rs_386833739	1 SubmittersRCV000049703
NM_001042432.2(CLN3):c.963-1G>T	SNV Unknown	Chr16:28482199	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263738	rs_386833742	1 SubmittersRCV000049706
NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter)	SNV Unknown	Chr16:28482182	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263739	rs_386833743	1 SubmittersRCV000049707
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)	SNV Germline	Chr16:28482173	Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263744	rs_386833744	3 SubmittersRCV000049708 RCV001378302
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter)	SNV Unknown	Chr13:77000771	Likely pathogenic	Neuronal ceroid lipofuscinosis 5	No Assertion Criteria Provided	CA263873	rs_386833963	1 SubmittersRCV000049938
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)	SNV Germline	Chr13:77000882	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA263880	rs_386833968	5 SubmittersRCV000049943 RCV000823474 RCV001092076
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)	SNV Germline	Chr13:76995077	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA263884	rs_104894386	6 SubmittersRCV000049946 RCV000989149 RCV004689440
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)	SNV Germline	Chr13:76995175	Pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263887	rs_386833971	7 SubmittersRCV000049947 RCV001058589
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)	SNV Germline	Chr13:76995939	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263891	rs_386833972	6 SubmittersRCV000049949 RCV002265586
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter)	SNV Unknown	Chr13:76995980	Likely pathogenic	Neuronal ceroid lipofuscinosis 5	No Assertion Criteria Provided	CA263895	rs_386833974	1 SubmittersRCV000049951
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)	SNV Germline	Chr13:76995990	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263898	rs_386833975	6 SubmittersRCV000049952 RCV000989151 RCV004589544
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)	SNV Germline	Chr13:76996028	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA263904	rs_386833977	6 SubmittersRCV000049954 RCV001853061
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser)	SNV Unknown	Chr13:76996035	Likely pathogenic	Neuronal ceroid lipofuscinosis 5	No Assertion Criteria Provided	CA263907	rs_386833978	1 SubmittersRCV000049955
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	SNV Germline	Chr13:76996086	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263911	rs_386833980	10 SubmittersRCV000049957 RCV000187071 RCV000818212
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)	SNV Germline	Chr13:77000517	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263914	rs_386833981	5 SubmittersRCV000049958 RCV003531948
NM_018941.4(CLN8):c.209G>A (p.Arg70His)	SNV Germline	Chr8:1771263	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA264159	rs_386834124	8 SubmittersRCV000050117 RCV000464589 RCV000623329 RCV005625253
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)	SNV Unknown	Chr8:1771281	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264161	rs_386834125	1 SubmittersRCV000050118
NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)	SNV Unknown	Chr8:1771374	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264163	rs_386834126	1 SubmittersRCV000050119
NM_018941.4(CLN8):c.464C>T (p.Ala155Val)	SNV Unknown	Chr8:1771518	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264167	rs_386834128	1 SubmittersRCV000050121
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)	SNV Germline	Chr8:1771527	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA264172	rs_386834130	9 SubmittersRCV000050123 RCV001377678 RCV002483067 RCV002514269
NM_018941.4(CLN8):c.507C>T (p.Ser169=)	SNV Unknown	Chr8:1771561	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264174	rs_386834131	2 SubmittersRCV000050124
NM_018941.4(CLN8):c.509C>T (p.Thr170Met)	SNV Germline	Chr8:1771563	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA264177	rs_188259026	4 SubmittersRCV000050125 RCV001753470 RCV003387747
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)	SNV Unknown	Chr8:1780287	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264180	rs_386834133	1 SubmittersRCV000050127
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)	SNV Germline	Chr8:1780317	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA264182	rs_386834134	3 SubmittersRCV000050128 RCV000632701 RCV002222375
NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)	SNV Unknown	Chr8:1780472	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264191	rs_386834138	1 SubmittersRCV000050132
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)	SNV Germline	Chr11:66565833	Pathogenic	Neuronal ceroid lipofuscinosis 13	Criteria Provided Single Submitter	CA144616	rs_397514731	2 SubmittersRCV000054490
NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala)	SNV Germline	Chr11:66564095	Pathogenic	Neuronal ceroid lipofuscinosis 13	No Assertion Criteria Provided	CA144617	rs_397514732	1 SubmittersRCV000054491
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)	SNV Germline	Chr11:66563949	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 13 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA144618	rs_397514733	3 SubmittersRCV000054492 RCV005406794
NM_001371596.2(MFSD8):c.754+2T>A	SNV Germline	Chr4:127938781	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 7 Condition: not provided Late-infantile neuronal ceroid lipofuscinosis Macular dystrophy with central cone involvement	Criteria Provided Multiple Submitters No Conflicts	CA315968	rs_587778809	7 SubmittersRCV000056142 RCV000188171 RCV001271142 RCV001353040
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	SNV Germline	Chr15:68218584	Pathogenic/Likely pathogenic	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA284815	rs_154774640	6 SubmittersRCV000058908 RCV000668229 RCV000702360
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys)	SNV Germline	Chr11:6616363	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA266177	rs_121908197	3 SubmittersRCV000059616 RCV001069102 RCV005237495
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp)	SNV Germline	Chr11:6615554	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA266179	rs_121908198	2 SubmittersRCV000059618 RCV001854251
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)	SNV Germline	Chr11:6615542	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266180	rs_121908199	4 SubmittersRCV000059619 RCV000541263
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	SNV Germline	Chr11:6615442	Pathogenic	Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Condition: not provided Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA266181	rs_121908200	8 SubmittersRCV000059620 RCV000210643 RCV000189782 RCV000529451 RCV001252369 RCV005049415
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)	SNV Germline	Chr11:6615235	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA266182	rs_121908201	2 SubmittersRCV000059621
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)	SNV Germline	Chr11:6615179	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA266183	rs_121908203	3 SubmittersRCV000059622 RCV001854252 RCV005049416
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	SNV Germline	Chr11:6615172	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA266184	rs_121908202	9 SubmittersRCV000059623 RCV000800616 RCV002307388 RCV005049417
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)	SNV Germline	Chr11:6618776	Pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266187	rs_121908195	3 SubmittersRCV000059626 RCV001731479 RCV001854253
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)	SNV Germline	Chr11:6617626	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA266188	rs_121908204	6 SubmittersRCV000059628 RCV000494361 RCV002281905
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)	SNV Germline	Chr11:6617057	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA266189	rs_121908205	3 SubmittersRCV000059629 RCV001854254
NM_000391.4(TPP1):c.617G>A (p.Arg206His)	SNV Germline	Chr11:6617045	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA266190	rs_121908209	7 SubmittersRCV000059630 RCV000469057 RCV001200081 RCV002354256
NM_000391.4(TPP1):c.829G>A (p.Val277Met)	SNV Germline	Chr11:6616718	Likely pathogenic	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA266191	rs_121908207	2 SubmittersRCV001778699 RCV000059631
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)	SNV Germline	Chr11:6619387	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220703	rs_138976576	13 SubmittersRCV000189797 RCV000723684 RCV000674709 RCV001280958 RCV002316221
NM_000391.4(TPP1):c.840G>C (p.Leu280=)	SNV Germline	Chr11:6616707	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA289080	rs_140349036	10 SubmittersRCV000118657 RCV000343988 RCV000473376 RCV002311556
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)	SNV Germline	Chr16:28484028	Conflicting classifications of pathogenicity	not specified Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis 3 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221451	rs_145967477	11 SubmittersRCV000186619 RCV000324671 RCV001027945 RCV000711257 RCV001082887 RCV002399470
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)	SNV Germline	Chr16:3254342	Pathogenic/Likely pathogenic	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA280647	rs_104895127	4 SubmittersRCV000083792 RCV001804836 RCV005016370 RCV004542801
NM_002087.4(GRN):c.102C>T (p.Pro34=)	SNV Germline	Chr17:44349266	Conflicting classifications of pathogenicity	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Conflicting Classifications	CA225209	rs_63751074	3 SubmittersRCV000084426 RCV002055247
NM_002087.4(GRN):c.138+1G>A	SNV Germline	Chr17:44349303	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Single Submitter	CA225213	rs_63749844	2 SubmittersRCV000084428 RCV001049316
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)	SNV Germline	Chr17:44349730	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Multiple Submitters No Conflicts	CA225231	rs_63750411	8 SubmittersRCV000084436 RCV001291777 RCV001387934 RCV000767861
NM_002087.4(GRN):c.421G>A (p.Val141Ile)	SNV Germline	Chr17:44350299	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases GRN-related disorder Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Conflicting Classifications	CA225246	rs_63749853	7 SubmittersRCV000084443 RCV002326804 RCV004755767 RCV001854474
NM_002087.4(GRN):c.708+1G>C	SNV Germline	Chr17:44350801	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Single Submitter	CA225269	rs_63749817	2 SubmittersRCV000084452 RCV001384760
NM_002087.4(GRN):c.709-2A>G	SNV Germline	Chr17:44351035	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Primary progressive aphasia	Criteria Provided Multiple Submitters No Conflicts	CA225270	rs_63750548	6 SubmittersRCV000084453 RCV000704513 RCV000995784 RCV001824019
NM_002087.4(GRN):c.836-1G>C	SNV Germline	Chr17:44351362	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Single Submitter	CA225285	rs_63751296	2 SubmittersRCV000084460 RCV000699101
NM_002087.4(GRN):c.911G>A (p.Trp304Ter)	SNV Germline	Chr17:44351438	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA225294	rs_63751177	3 SubmittersRCV000084465 RCV001854477
NM_002087.4(GRN):c.933+1G>A	SNV Germline	Chr17:44351461	Likely pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Single Submitter	CA225297	rs_63750707	2 SubmittersRCV000084466 RCV000697778
NM_002087.4(GRN):c.970G>A (p.Ala324Thr)	SNV Germline	Chr17:44351586	Conflicting classifications of pathogenicity	Condition: not provided not specified GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 Inborn genetic diseases GRN-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related disorder	Criteria Provided Conflicting Classifications	CA225301	rs_63750541	11 SubmittersRCV000084468 RCV001727569 RCV000706214 RCV002381407 RCV001128038 RCV004549523
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter)	SNV Germline	Chr17:44351625	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA225308	rs_63751406	3 SubmittersRCV000084471 RCV005222751
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)	SNV Germline	Chr17:44352087	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 Amyotrophic lateral sclerosis type 10 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Multiple Submitters No Conflicts	CA225327	rs_63751180	10 SubmittersRCV000084480 RCV001390599 RCV002463638 RCV000995559
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)	SNV Germline	Chr17:44352088	Conflicting classifications of pathogenicity	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA225330	rs_63751100	7 SubmittersRCV000084481 RCV000764131 RCV001122276 RCV001705812 RCV002514501
NM_002087.4(GRN):c.1341C>T (p.His447=)	SNV Germline	Chr17:44352176	Conflicting classifications of pathogenicity	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 Inborn genetic diseases GRN-related disorder	Criteria Provided Conflicting Classifications	CA225339	rs_63750775	5 SubmittersRCV000084484 RCV001122277 RCV001086557 RCV002381408 RCV004549524
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	SNV Germline	Chr8:1780498	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Conflicting Classifications	CA267596	rs_587779411	7 SubmittersRCV000087102 RCV000988030 RCV005042202
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)	SNV Germline	Chr16:28477623	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA288720	rs_146610181	10 SubmittersRCV000116748 RCV000223968 RCV001081596 RCV000274494 RCV001116001 RCV002313869
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)	SNV Germline	Chr11:6617713	Conflicting classifications of pathogenicity	Condition: not provided not specified Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231553	rs_140726254	11 SubmittersRCV000118653 RCV000186669 RCV000509378 RCV002313926
NM_001042432.2(CLN3):c.831G>A (p.Val277=)	SNV Germline	Chr16:28482632	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA290108	rs_1142183	12 SubmittersRCV000124313 RCV000725520 RCV001117455 RCV002312824 RCV001083119
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)	SNV Germline	Chr16:28477603	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases Condition: not provided CLN3-related disorder	Criteria Provided Conflicting Classifications	CA232460	rs_201206239	11 SubmittersRCV000186618 RCV001084677 RCV001120931 RCV002362755 RCV000723896 RCV003905195
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)	SNV Germline	Chr16:28486595	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290126	rs_148846795	7 SubmittersRCV000124325 RCV000528208 RCV001119060 RCV001701675 RCV002336272
NM_006493.4(CLN5):c.-4C>T	SNV Germline	Chr13:76992095	Conflicting classifications of pathogenicity	not specified Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290137	rs_587780896	7 SubmittersRCV000124330 RCV000360042 RCV000711258 RCV001081887 RCV001111457 RCV002316354
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)	SNV Germline	Chr13:77000471	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA302986	rs_138611001	16 SubmittersRCV000178274 RCV001082459 RCV000603044 RCV000675521 RCV002312551
NM_017882.3(CLN6):c.282C>A (p.Pro94=)	SNV Germline	Chr15:68214305	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290141	rs_139261571	5 SubmittersRCV000124337 RCV000632748 RCV002316355
NM_017882.3(CLN6):c.339G>A (p.Thr113=)	SNV Germline	Chr15:68211822	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290143	rs_146135801	6 SubmittersRCV000124339 RCV000465480 RCV002453447
NM_017882.3(CLN6):c.487-15C>T	SNV Germline	Chr15:68211333	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA290145	rs_200775021	3 SubmittersRCV000124341 RCV001116617
NM_017882.3(CLN6):c.585C>T (p.Gly195=)	SNV Germline	Chr15:68209717	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290146	rs_144507672	4 SubmittersRCV000124342 RCV000529403 RCV002354313
NM_017882.3(CLN6):c.822G>A (p.Ala274=)	SNV Germline	Chr15:68208254	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA290150	rs_151186473	6 SubmittersRCV000124344 RCV000533512 RCV003390812
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)	SNV Germline	Chr15:68229551	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA302669	rs_112239768	16 SubmittersRCV000173024 RCV000675965 RCV000989355 RCV000677327 RCV002312552 RCV003224161
NM_001909.5(CTSD):c.912G>A (p.Pro304=)	SNV Germline	Chr11:1754054	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 10 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases CTSD-related disorder	Criteria Provided Conflicting Classifications	CA232472	rs_140238987	10 SubmittersRCV000186625 RCV000262670 RCV000724427 RCV001082524 RCV002312558 RCV003965044
NM_001909.5(CTSD):c.1071+7G>A	SNV Germline	Chr11:1753796	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 10 Neuronal ceroid lipofuscinosis CTSD-related disorder	Criteria Provided Conflicting Classifications	CA290528	rs_374010531	5 SubmittersRCV000124626 RCV001103554 RCV000475449 RCV003915248
NM_001909.5(CTSD):c.1071+12A>G	SNV Germline	Chr11:1753791	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 10 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA290529	rs_113936232	6 SubmittersRCV000124627 RCV001103553 RCV001580047 RCV002055517
NM_001909.5(CTSD):c.228C>T (p.Asp76=)	SNV Germline	Chr11:1761309	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA290537	rs_587780914	2 SubmittersRCV000124635 RCV001854685
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)	SNV Germline	Chr11:1759628	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 10 Inborn genetic diseases CTSD-related disorder	Criteria Provided Conflicting Classifications	CA290540	rs_147641822	5 SubmittersRCV000124638 RCV000463645 RCV001108794 RCV002316364 RCV003965045
NM_001909.5(CTSD):c.-24C>T	SNV Germline	Chr11:1763883	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 10	Criteria Provided Conflicting Classifications	CA290554	rs_587780917	2 SubmittersRCV000124648 RCV000264846
NM_001909.5(CTSD):c.639C>G (p.Pro213=)	SNV Germline	Chr11:1757389	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 10 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290555	rs_146073498	8 SubmittersRCV000124649 RCV000625343 RCV000675953 RCV001084602 RCV002354314
NM_001909.5(CTSD):c.704+6C>T	SNV Germline	Chr11:1757318	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA290557	rs_370847523	3 SubmittersRCV000124650 RCV001245840
NM_001909.5(CTSD):c.827+13T>C	SNV Germline	Chr11:1754893	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 10 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA290558	rs_369602025	5 SubmittersRCV000124651 RCV000625069 RCV002055521
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=)	SNV Germline	Chr4:127921587	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 7 MFSD8-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292090	rs_138072045	5 SubmittersRCV000126764 RCV000864745 RCV003965055 RCV002381440
NM_001371596.2(MFSD8):c.1351-9C>A	SNV Germline	Chr4:127920845	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 7 Retinal dystrophy Late-infantile neuronal ceroid lipofuscinosis MFSD8-related disorder	Criteria Provided Conflicting Classifications	CA292094	rs_75039907	6 SubmittersRCV000126766 RCV000462645 RCV001074091 RCV001831924 RCV004757961
NM_001371596.2(MFSD8):c.153A>G (p.Val51=)	SNV Germline	Chr4:127957502	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 7	Criteria Provided Conflicting Classifications	CA292096	rs_587781037	2 SubmittersRCV000126768 RCV002514677
NM_000310.4(PPT1):c.*3C>A	SNV Germline	Chr1:40074058	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292902	rs_150454815	7 SubmittersRCV000127587 RCV000582206 RCV000371863 RCV002312593
NM_000310.4(PPT1):c.234+6G>A	SNV Germline	Chr1:40092392	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA292905	rs_587781122	3 SubmittersRCV000127590 RCV001242283
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)	SNV Germline	Chr4:127921956	Conflicting classifications of pathogenicity	Macular dystrophy with central cone involvement Condition: not provided Neuronal ceroid lipofuscinosis 7 Late-infantile neuronal ceroid lipofuscinosis Inborn genetic diseases not specified MFSD8-related disorder Optic atrophy Retinal dystrophy Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement	Criteria Provided Conflicting Classifications	CA175005	rs_150418024	14 SubmittersRCV000149771 RCV000732335 RCV001080724 RCV001272733 RCV002316957 RCV002509247 RCV003917467 RCV004815213 RCV004815212 RCV005394508
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)	SNV Germline	Chr4:127921733	Pathogenic	Macular dystrophy with central cone involvement Neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Inborn genetic diseases Condition: not provided Late-infantile neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA175006	rs_724159970	10 SubmittersRCV000149773 RCV000149772 RCV002483295 RCV002453475 RCV000481423 RCV001276178
NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His)	SNV Germline	Chr4:127921860	Pathogenic	Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement	Criteria Provided Multiple Submitters No Conflicts	CA175008	rs_727502800	3 SubmittersRCV000149774 RCV000149775
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)	SNV Germline	Chr4:127920743	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 7 Condition: not provided Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA273061	rs_724159971	8 SubmittersRCV000149777 RCV000256110 RCV000763521 RCV002390318
NM_006493.4(CLN5):c.-146T>C	SNV Germline	Chr13:76991953	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases CLN5-related disorder	Criteria Provided Conflicting Classifications	CA295605	rs_201615354	9 SubmittersRCV000989146 RCV000711260 RCV000778400 RCV002316962 RCV003398802
NM_000310.4(PPT1):c.541G>A (p.Val181Met)	SNV Germline	Chr1:40080483	Pathogenic	Neuronal ceroid lipofuscinosis 1 Retinitis pigmentosa Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274047	rs_148412181	12 SubmittersRCV000169209 RCV001723740 RCV002259317 RCV002345567
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)	SNV Germline	Chr8:1780415	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA274121	rs_746645358	6 SubmittersRCV000169279 RCV000187126 RCV003532006
NM_000391.4(TPP1):c.1551+1G>A	SNV Germline	Chr11:6614865	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274113	rs_786204553	5 SubmittersRCV000169269 RCV000524081
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)	SNV Germline	Chr11:6615217	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA274465	rs_786204753	5 SubmittersRCV000169608 RCV000189791 RCV002498846
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	SNV Germline	Chr13:76995076	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA274758	rs_786205211	6 SubmittersRCV000170441 RCV001054069 RCV002321680
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)	SNV Germline	Chr15:68229532	Conflicting classifications of pathogenicity	not specified Adult neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Condition: not provided Neuronal ceroid lipofuscinosis CLN6-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA238907	rs_547125345	7 SubmittersRCV000187111 RCV000515438 RCV000766779 RCV001085594 RCV003917602 RCV002313023
NM_000391.4(TPP1):c.1552-9C>T	SNV Germline	Chr11:6614695	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA240010	rs_369699167	5 SubmittersRCV001107389 RCV000724266
NM_001909.5(CTSD):c.75G>A (p.Pro25=)	SNV Germline	Chr11:1761462	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis CTSD-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA241445	rs_140563067	5 SubmittersRCV000187304 RCV001078653 RCV003907574 RCV002390429
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)	SNV Germline	Chr8:1771254	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 1 not specified	Criteria Provided Conflicting Classifications	CA241753	rs_373957283	8 SubmittersRCV000632691 RCV000724133 RCV001273351 RCV002317017 RCV001838985 RCV003224189 RCV004782284
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)	SNV Germline	Chr8:1771065	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA302819	rs_147181589	5 SubmittersRCV000175911 RCV000465790 RCV001704258 RCV004799187 RCV002314613
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)	SNV Germline	Chr7:66633320	Conflicting classifications of pathogenicity	Inborn genetic diseases Progressive myoclonic epilepsy type 3 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA241849	rs_201296399	9 SubmittersRCV000624660 RCV000645671 RCV000712134 RCV005417991
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)	SNV Germline	Chr1:40092078	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Condition: not provided Intellectual disability Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA243138	rs_142894102	13 SubmittersRCV000625813 RCV000724058 RCV001252359 RCV002516724 RCV003235097
NM_001909.5(CTSD):c.267C>G (p.Pro89=)	SNV Germline	Chr11:1759601	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA243244	rs_139154882	4 SubmittersRCV000724386 RCV001448695 RCV002433772
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)	SNV Germline	Chr13:76995977	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA243394	rs_794727507	9 SubmittersRCV000724376 RCV001028014 RCV005089889 RCV004689657
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	SNV Germline	Chr8:1780512	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 Condition: not provided Neuronal ceroid lipofuscinosis See cases Inborn genetic diseases CLN8-related disorder	Criteria Provided Conflicting Classifications	CA243465	rs_139003032	14 SubmittersRCV000187131 RCV000515342 RCV000670572 RCV000723601 RCV001084070 RCV002252020 RCV002408767 RCV004537428
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)	SNV Germline	Chr1:40091329	Conflicting classifications of pathogenicity	Condition: not provided not specified Neuronal ceroid lipofuscinosis 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245091	rs_369186379	6 SubmittersRCV000178074 RCV001420748 RCV001826905 RCV002317045
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	SNV Germline	Chr1:40078564	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA247056	rs_746043871	6 SubmittersRCV000179745 RCV000670818
NM_001042432.2(CLN3):c.399T>C (p.Ile133=)	SNV Germline	Chr16:28487517	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA247105	rs_775739498	2 SubmittersRCV000179806 RCV001502948
NM_001042432.2(CLN3):c.393T>C (p.Ser131=)	SNV Germline	Chr16:28487523	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA247110	rs_794727850	2 SubmittersRCV000179807 RCV003647754
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	SNV Germline	Chr15:68208153	Conflicting classifications of pathogenicity	not specified Ceroid lipofuscinosis, neuronal, 6A Adult neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Inborn genetic diseases CLN6-related disorder	Criteria Provided Conflicting Classifications	CA247303	rs_143578698	13 SubmittersRCV000187108 RCV000515242 RCV000724552 RCV001080133 RCV002054140 RCV002314666 RCV003398902
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)	SNV Germline	Chr4:127939961	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 7 Late-infantile neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases MFSD8-related disorder	Criteria Provided Conflicting Classifications	CA203526	rs_28544073	8 SubmittersRCV000180004 RCV000461551 RCV001273684 RCV001721127 RCV002314668 RCV003947538
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)	SNV Germline	Chr11:6616374	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA247530	rs_765380155	9 SubmittersRCV000180153 RCV000625040
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)	SNV Germline	Chr1:40074078	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 1 Intellectual disability not specified Inborn genetic diseases PPT1-related disorder	Criteria Provided Conflicting Classifications	CA247958	rs_146902902	17 SubmittersRCV000435004 RCV000515384 RCV001252358 RCV001706153 RCV002317064 RCV003955098
NM_001371596.2(MFSD8):c.863+4A>G	SNV Germline	Chr4:127932981	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 7	Criteria Provided Conflicting Classifications	CA248270	rs_752035164	3 SubmittersRCV000180705 RCV002515300
NM_002087.4(GRN):c.708+1G>A	SNV Germline	Chr17:44350801	Pathogenic/Likely pathogenic	Frontotemporal dementia Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Multiple Submitters No Conflicts	CA275539	rs_63749817	8 SubmittersRCV000185615 RCV000513518 RCV000503399 RCV003765160
NM_000310.4(PPT1):c.*6G>A	SNV Germline	Chr1:40074055	Conflicting classifications of pathogenicity	not specified Condition: not provided PPT1-related disorder Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA292903	rs_113082671	6 SubmittersRCV000127588 RCV000675767 RCV003955120 RCV001098457
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)	SNV Germline	Chr1:40089411	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA316940	rs_560471003	6 SubmittersRCV000188720 RCV000766627 RCV000661982 RCV002345676
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)	SNV Germline	Chr1:40091338	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA316930	rs_796052925	4 SubmittersRCV000188715 RCV000412210
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr)	SNV Germline	Chr1:40091395	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA316927	rs_755565099	4 SubmittersRCV000393506 RCV001169850
NM_000310.4(PPT1):c.362+5G>A	SNV Germline	Chr1:40092040	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA316926	rs_796052924	6 SubmittersRCV000188713 RCV001090090
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)	SNV Germline	Chr1:40092097	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA316906	rs_386833641	3 SubmittersRCV000188701 RCV000641277 RCV003362718
NM_000310.4(PPT1):c.234+1G>A	SNV Germline	Chr1:40092397	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA316925	rs_796052923	2 SubmittersRCV000188710 RCV001233540
NM_000310.4(PPT1):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:40097237	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA316954	rs_796052927	3 SubmittersRCV000188725 RCV000410251
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr)	SNV Germline	Chr4:127939874	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Neuronal ceroid lipofuscinosis 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315969	rs_200591471	4 SubmittersRCV000188172 RCV000765753 RCV000823577 RCV002311276
NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter)	SNV Germline	Chr4:127939952	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 7	Criteria Provided Multiple Submitters No Conflicts	CA315960	rs_558274487	2 SubmittersRCV000188167 RCV002516999
NM_001371596.2(MFSD8):c.442A>G (p.Asn148Asp)	SNV Germline	Chr4:127942156	Likely pathogenic	Condition: not provided Late-infantile neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA315962	rs_796052742	2 SubmittersRCV000188168 RCV005614384
NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val)	SNV Germline	Chr4:127943914	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 7	Criteria Provided Conflicting Classifications	CA315943	rs_578102641	2 SubmittersRCV000188156 RCV001857624
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)	SNV Germline	Chr4:127943985	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 7 Inborn genetic diseases MFSD8-related disorder	Criteria Provided Conflicting Classifications	CA315948	rs_147750747	7 SubmittersRCV000725884 RCV001086515 RCV002317122 RCV004757975
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	SNV Germline	Chr8:1771428	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314053	rs_142269885	16 SubmittersRCV000187142 RCV000656837 RCV000677331 RCV001080578 RCV003224205 RCV001251946 RCV002314707
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	SNV Germline	Chr8:1771553	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Multiple Submitters No Conflicts	CA314014	rs_144495588	9 SubmittersRCV000187127 RCV000503130 RCV000665564 RCV002336495 RCV005042399
NM_018941.4(CLN8):c.522C>T (p.Cys174=)	SNV Germline	Chr8:1771576	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Condition: not provided Neuronal ceroid lipofuscinosis CLN8-related disorder	Criteria Provided Conflicting Classifications	CA314002	rs_148417620	5 SubmittersRCV000187122 RCV002336494 RCV000729236 RCV001079239 RCV004539736
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)	SNV Germline	Chr8:1780431	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis CLN8-related disorder	Criteria Provided Conflicting Classifications	CA314017	rs_138821993	5 SubmittersRCV001704979 RCV000458992 RCV004537573
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)	SNV Germline	Chr8:1780482	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314061	rs_201956727	4 SubmittersRCV000187145 RCV000706746 RCV001833114 RCV002513993
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)	SNV Germline	Chr8:1780485	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314020	rs_146579299	12 SubmittersRCV000187129 RCV000768188 RCV001080174 RCV001272624 RCV002247602 RCV002408830
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)	SNV Germline	Chr11:1753540	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314334	rs_147553344	3 SubmittersRCV000187302 RCV000632742 RCV002345669
NM_001909.5(CTSD):c.926G>A (p.Arg309His)	SNV Germline	Chr11:1754040	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 10	Criteria Provided Conflicting Classifications	CA314362	rs_374540411	4 SubmittersRCV001711476 RCV002314714 RCV000864860 RCV003144152
NM_001909.5(CTSD):c.497C>T (p.Ala166Val)	SNV Germline	Chr11:1757531	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA314318	rs_796052396	2 SubmittersRCV000187294 RCV002513998
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)	SNV Germline	Chr11:1759569	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314368	rs_796052407	4 SubmittersRCV000187320 RCV001207662 RCV002433840
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)	SNV Germline	Chr11:1759606	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA314342	rs_796052400	2 SubmittersRCV000187307 RCV002513999
NM_001909.5(CTSD):c.154G>A (p.Val52Ile)	SNV Germline	Chr11:1761383	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 10 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314312	rs_143517230	4 SubmittersRCV000862792 RCV001721192 RCV001108795 RCV002314713
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)	SNV Germline	Chr11:1761437	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314338	rs_779278368	4 SubmittersRCV001085708 RCV000710114 RCV002317090
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)	SNV Germline	Chr11:6614638	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA319218	rs_1554901472	2 SubmittersRCV001385651 RCV001828011
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)	SNV Germline	Chr11:6614874	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA319216	rs_748345018	4 SubmittersRCV000189794 RCV002399705 RCV001274536
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)	SNV Germline	Chr11:6614891	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319214	rs_149529997	5 SubmittersRCV000189793 RCV000764996 RCV001274537 RCV002390502
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)	SNV Germline	Chr11:6615316	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA319206	rs_201034755	5 SubmittersRCV000189787 RCV000764997 RCV002381645 RCV001252368
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)	SNV Germline	Chr11:6616375	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA319198	rs_750428882	9 SubmittersRCV000189779 RCV001329231 RCV002317664 RCV003401035 RCV005049466
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)	SNV Germline	Chr11:6616714	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319191	rs_796053439	5 SubmittersRCV000189774 RCV000209853 RCV003235113
NM_000391.4(TPP1):c.827A>T (p.Asp276Val)	SNV Germline	Chr11:6616720	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA319189	rs_763162812	8 SubmittersRCV000189773 RCV000666770 RCV002485283
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)	SNV Germline	Chr11:6616751	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA319225	rs_200138397	5 SubmittersRCV000384515 RCV000725967
NM_000391.4(TPP1):c.776G>A (p.Arg259His)	SNV Germline	Chr11:6616771	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA319186	rs_140176031	5 SubmittersRCV000189771 RCV000764999 RCV002317662 RCV001274539
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)	SNV Germline	Chr11:6617024	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Conflicting Classifications	CA319184	rs_773546205	5 SubmittersRCV000189770 RCV001274540 RCV001578829
NM_000391.4(TPP1):c.509-1G>A	SNV Germline	Chr11:6617154	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA319175	rs_56144125	8 SubmittersRCV000189764 RCV000586250 RCV000673911 RCV002336504 RCV005049465
NM_000391.4(TPP1):c.425T>G (p.Val142Gly)	SNV Germline	Chr11:6617384	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA319169	rs_775217501	3 SubmittersRCV000189761 RCV001833128
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)	SNV Germline	Chr11:6617627	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Angelman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA319165	rs_756564767	12 SubmittersRCV000189759 RCV000792396 RCV001004372 RCV000763269 RCV001804926
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)	SNV Germline	Chr11:6617687	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Conflicting Classifications	CA319163	rs_201613668	4 SubmittersRCV000189758 RCV001274542 RCV000765000
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	SNV Germline	Chr11:6617695	Pathogenic	Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319150	rs_202189057	7 SubmittersRCV000189751 RCV000210549 RCV000984312 RCV002492873 RCV004800327
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)	SNV Germline	Chr11:6617746	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319132	rs_148064565	6 SubmittersRCV000189741 RCV000766956 RCV001274545 RCV002314770
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)	SNV Germline	Chr11:6618776	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319162	rs_121908195	4 SubmittersRCV000189757 RCV000673684 RCV001731509
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)	SNV Germline	Chr11:6618808	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319158	rs_751088292	5 SubmittersRCV000189755 RCV001833127 RCV002415815
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)	SNV Germline	Chr11:6618809	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319156	rs_759080581	4 SubmittersRCV000189754 RCV000824347
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)	SNV Germline	Chr11:6618904	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA319148	rs_138448968	9 SubmittersRCV000189750 RCV000341505 RCV000765001 RCV002362994 RCV005406918
NM_000391.4(TPP1):c.89+5G>C	SNV Germline	Chr11:6619191	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319224	rs_746085696	3 SubmittersRCV000189799 RCV003235114
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)	SNV Germline	Chr11:6619394	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319144	rs_142163063	7 SubmittersRCV000726300 RCV001274548 RCV003224212 RCV002314771
NC_000013.11:g.76991953T>A	SNV Germline	Chr13:76991953	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA313888	rs_201615354	4 SubmittersRCV000187058 RCV000672217 RCV002054194
NC_000013.11:g.76991973G>C	SNV Germline	Chr13:76991973	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313852	rs_762873839	6 SubmittersRCV000187045 RCV000814647 RCV001109123 RCV002513988
NM_006493.4(CLN5):c.-99G>C	SNV Germline	Chr13:76992000	Conflicting classifications of pathogenicity	not specified Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5	Criteria Provided Conflicting Classifications	CA313855	rs_202118652	11 SubmittersRCV000187046 RCV000405110 RCV000514392 RCV002314700 RCV001083336 RCV001111453
NC_000013.11:g.76992067C>A	SNV Germline	Chr13:76992067	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313900	rs_61504484	4 SubmittersRCV000187063 RCV001729446 RCV001852446 RCV002327011
NC_000013.11:g.76992067C>G	SNV Germline	Chr13:76992067	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5	Criteria Provided Conflicting Classifications	CA313858	rs_61504484	3 SubmittersRCV000187047 RCV001058811 RCV001729445
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)	SNV Germline	Chr13:76992103	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA313861	rs_146993892	9 SubmittersRCV001082301 RCV001111458 RCV000395302 RCV002317080 RCV000726511 RCV001727624
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)	SNV Germline	Chr13:76992159	Conflicting classifications of pathogenicity	Condition: not provided Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313909	rs_376454715	8 SubmittersRCV000187066 RCV000306509 RCV000553078 RCV001111459 RCV003298245
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	SNV Germline	Chr13:76992174	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis Inborn genetic diseases CLN5-related disorder	Criteria Provided Conflicting Classifications	CA313867	rs_199727787	15 SubmittersRCV000187050 RCV000711259 RCV000755716 RCV000989148 RCV002314701 RCV003977493
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro)	SNV Germline	Chr13:76992204	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA313912	rs_778982551	6 SubmittersRCV000473058 RCV001336971 RCV002311261 RCV000726582
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	SNV Germline	Chr13:76996010	Pathogenic	Neuronal ceroid lipofuscinosis 5 Condition: not provided Neuronal ceroid lipofuscinosis CLN5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA313918	rs_546989392	17 SubmittersRCV000613275 RCV000187069 RCV000556663 RCV003927734
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr)	SNV Germline	Chr13:76996049	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5	Criteria Provided Conflicting Classifications	CA313897	rs_148544801	4 SubmittersRCV000187061 RCV001239747 RCV001272146
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)	SNV Germline	Chr13:77000461	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313927	rs_369100769	6 SubmittersRCV000187073 RCV000473641 RCV001275304 RCV004609320
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr)	SNV Germline	Chr15:68208277	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313946	rs_374613712	3 SubmittersRCV001704977 RCV002513989 RCV002415804
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)	SNV Germline	Chr15:68208309	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA313981	rs_143781303	2 SubmittersRCV000187106 RCV001037728
NM_017882.3(CLN6):c.755G>A (p.Arg252His)	SNV Germline	Chr15:68208321	Conflicting classifications of pathogenicity	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313980	rs_374681194	5 SubmittersRCV000187105 RCV000671648 RCV001083020 RCV002390489
NM_017882.3(CLN6):c.665+1G>A	SNV Germline	Chr15:68209636	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA313971	rs_796052356	3 SubmittersRCV000187100 RCV001379342
NM_017882.3(CLN6):c.297+1G>A	SNV Germline	Chr15:68214289	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA313959	rs_796052351	2 SubmittersRCV000187092 RCV002513990
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)	SNV Germline	Chr15:68214309	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA313990	rs_150001589	4 SubmittersRCV000187115 RCV000803649 RCV001804924
NM_017882.3(CLN6):c.270C>T (p.Asn90=)	SNV Germline	Chr15:68214317	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313943	rs_145247814	5 SubmittersRCV000187081 RCV001085180 RCV000725138 RCV002311262
NM_017882.3(CLN6):c.116G>A (p.Arg39His)	SNV Germline	Chr15:68218618	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA313941	rs_779456928	2 SubmittersRCV000187080 RCV000456247
NM_017882.3(CLN6):c.66C>T (p.Ala22=)	SNV Germline	Chr15:68229519	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA313951	rs_796052349	3 SubmittersRCV000187088 RCV001119610
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)	SNV Germline	Chr15:68229536	Conflicting classifications of pathogenicity	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313987	rs_763944821	7 SubmittersRCV000187110 RCV000664742 RCV001085897 RCV002228805 RCV002317081
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)	SNV Germline	Chr15:68229580	Conflicting classifications of pathogenicity	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA313985	rs_3743088	9 SubmittersRCV000187109 RCV000664477 RCV001082320 RCV001731421 RCV002311263 RCV005003538
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	SNV Germline	Chr16:28477577	Conflicting classifications of pathogenicity	early onset and severe retinal dystrophy Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA313757	rs_796052338	6 SubmittersRCV001270478 RCV000673887 RCV001211899 RCV004586610
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)	SNV Germline	Chr16:28482173	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA313722	rs_386833744	8 SubmittersRCV000187016 RCV000504655 RCV000812919 RCV001729444 RCV004975317 RCV004816316
NM_001042432.2(CLN3):c.962+3A>T	SNV Germline	Chr16:28482324	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA313716	rs_796052336	3 SubmittersRCV000187014 RCV001038302 RCV001729443
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)	SNV Germline	Chr16:28482340	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Multiple Submitters No Conflicts	CA313711	rs_796052335	5 SubmittersRCV000187013 RCV002516983 RCV001729442
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)	SNV Germline	Chr16:28482515	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA313680	rs_369008702	5 SubmittersRCV000187004 RCV000696008 RCV001785494
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)	SNV Germline	Chr16:28487498	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA313703	rs_373034150	7 SubmittersRCV000345320 RCV000432571 RCV001218859 RCV001119063 RCV002314697 RCV005406914
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)	SNV Germline	Chr16:28488643	Conflicting classifications of pathogenicity	Condition: not provided Progressive myoclonic epilepsy type 3 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313772	rs_137906617	14 SubmittersRCV000725785 RCV000791120 RCV000300798 RCV001121029 RCV001086732 RCV002317078
NM_001042432.2(CLN3):c.-41C>A	SNV Germline	Chr16:28491800	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA313678	rs_370217726	2 SubmittersRCV000187002 RCV001116116
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)	SNV Germline	Chr20:63929357	Conflicting classifications of pathogenicity	not specified Condition: not provided Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA314375	rs_151265913	4 SubmittersRCV000187324 RCV000725992 RCV001139072 RCV001079096
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val)	SNV Germline	Chr20:63930948	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA314387	rs_144915847	3 SubmittersRCV000187331 RCV001504434 RCV003317140
NM_003793.4(CTSF):c.213+1G>C	SNV Germline	Chr11:66568273	Pathogenic	Neuronal ceroid lipofuscinosis 13	No Assertion Criteria Provided	CA204952	rs_797045136	1 SubmittersRCV000190878
NM_001909.5(CTSD):c.446G>T (p.Gly149Val)	SNV Germline	Chr11:1758994	Likely pathogenic	Neuronal ceroid lipofuscinosis 10 Condition: not provided	Criteria Provided Single Submitter	CA276036	rs_797045137	2 SubmittersRCV000190882 RCV004700577
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)	SNV Germline	Chr4:127930746	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 7 Inborn genetic diseases Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA207954	rs_556875684	5 SubmittersRCV000194054 RCV000662085 RCV002517099 RCV005406921
NM_018941.4(CLN8):c.470A>G (p.His157Arg)	SNV Germline	Chr8:1771524	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA277008	rs_149308952	6 SubmittersRCV000192707 RCV002307439 RCV001580081
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)	SNV Germline	Chr8:1771262	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA056214	rs_765097897	2 SubmittersRCV000988028
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)	SNV Germline	Chr11:6615220	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA277862	rs_864309505	2 SubmittersRCV000202601
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)	SNV Unknown	Chr11:6617353	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA351534	rs_869025274	1 SubmittersRCV000207147
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter)	SNV Germline	Chr13:76996109	Pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA353480	rs_869312751	3 SubmittersRCV000210062 RCV002282043
NM_000310.4(PPT1):c.1A>G (p.Met1Val)	SNV Germline	Chr1:40097238	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA339850881	rs_1085307087	1 SubmittersRCV000490479
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)	SNV Germline	Chr1:40078573	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Criteria Provided Multiple Submitters No Conflicts	CA10581621	rs_878853322	7 SubmittersRCV000225555 RCV004594031
NM_000310.4(PPT1):c.707T>A (p.Val236Glu)	SNV Germline	Chr1:40078579	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10581622	rs_878853324	4 SubmittersRCV000225429 RCV004701300 RCV005222846
NM_000310.4(PPT1):c.798+1G>T	SNV Germline	Chr1:40076841	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA10581791	rs_878853929	3 SubmittersRCV000228420
NM_018941.4(CLN8):c.788G>A (p.Trp263Ter)	SNV Germline	Chr8:1780494	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA10582576	rs_878855053	1 SubmittersRCV000230938
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)	SNV Germline	Chr11:6617338	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10583994	rs_553522118	3 SubmittersRCV000234824 RCV003137850
NM_018941.4(CLN8):c.207G>A (p.Thr69=)	SNV Germline	Chr8:1771261	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 8	Criteria Provided Conflicting Classifications	CA4599226	rs_368365607	7 SubmittersRCV000251360 RCV000726178 RCV001082817 RCV002418085 RCV001828146
NM_003793.4(CTSF):c.1046-2A>C	SNV Germline	Chr11:66565008	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 13 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6125323	rs_141915593	6 SubmittersRCV000255055 RCV001063136 RCV004701360 RCV002401968
NM_000391.4(TPP1):c.509-1G>T	SNV Germline	Chr11:6617154	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA10603269	rs_56144125	4 SubmittersRCV000391641 RCV000666428
NM_018941.4(CLN8):c.648C>T (p.Phe216=)	SNV Germline	Chr8:1780354	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599328	rs_564074916	5 SubmittersRCV000331844 RCV000725017 RCV001085032 RCV002365298
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)	SNV Germline	Chr11:1753865	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10 Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5813950	rs_147800688	6 SubmittersRCV000308097 RCV001084655 RCV000725129 RCV002429217
NM_017882.3(CLN6):c.58C>T (p.Leu20=)	SNV Germline	Chr15:68229527	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA10604365	rs_886042533	2 SubmittersRCV000370051 RCV001452369
NM_018941.4(CLN8):c.256C>T (p.Leu86=)	SNV Germline	Chr8:1771310	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA4599232	rs_755248868	4 SubmittersRCV000390779 RCV001086060
NM_018941.4(CLN8):c.838C>T (p.Leu280=)	SNV Germline	Chr8:1780544	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA10605059	rs_886043061	2 SubmittersRCV000339809 RCV001479855
NM_025219.3(DNAJC5):c.339C>T (p.Cys113=)	SNV Germline	Chr20:63930868	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA10605347	rs_886043295	2 SubmittersRCV000322144 RCV001082002
NM_001909.5(CTSD):c.972+10G>A	SNV Germline	Chr11:1753984	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis CTSD-related disorder	Criteria Provided Conflicting Classifications	CA5813980	rs_531682785	4 SubmittersRCV000389907 RCV000725998 RCV001434058 RCV003940033
NM_001042432.2(CLN3):c.1198-5C>T	SNV Germline	Chr16:28477640	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis CLN3-related disorder	Criteria Provided Conflicting Classifications	CA7980646	rs_764999720	3 SubmittersRCV000407198 RCV001083253 RCV003977791
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)	SNV Germline	Chr16:28486487	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA10606047	rs_147667964	6 SubmittersRCV000364835 RCV001271267 RCV001729509
NM_006493.4(CLN5):c.342A>G (p.Lys114=)	SNV Germline	Chr13:76995904	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5	Criteria Provided Conflicting Classifications	CA7007192	rs_770149235	3 SubmittersRCV000354768 RCV001464349 RCV001729510
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)	SNV Germline	Chr20:63928420	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA9969630	rs_189308547	4 SubmittersRCV000277916 RCV002317824 RCV000726583 RCV001084367
NM_000310.4(PPT1):c.537-12T>C	SNV Germline	Chr1:40080499	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA10609893	rs_1057515556	2 SubmittersRCV000393477
NM_000310.4(PPT1):c.234+8G>A	SNV Germline	Chr1:40092390	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA789776	rs_746750426	2 SubmittersRCV000366941
NM_000310.4(PPT1):c.705T>C (p.Ile235=)	SNV Germline	Chr1:40078581	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA10610994	rs_1057515448	2 SubmittersRCV000291494
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=)	SNV Germline	Chr4:127943770	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 7	Criteria Provided Conflicting Classifications	CA3077483	rs_778330834	2 SubmittersRCV000321495
NM_001909.5(CTSD):c.973-8C>A	SNV Germline	Chr11:1753909	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA10630499	rs_886048064	2 SubmittersRCV000360520 RCV001850607
NM_001909.5(CTSD):c.-37G>A	SNV Germline	Chr11:1763896	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10 not specified	Criteria Provided Conflicting Classifications	CA5814335	rs_756112449	2 SubmittersRCV000303572 RCV000443172
NM_001909.5(CTSD):c.111G>C (p.Ser37=)	SNV Germline	Chr11:1761426	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 10	Criteria Provided Conflicting Classifications	CA5814290	rs_535140505	2 SubmittersRCV003765791 RCV000404301
NM_006493.4(CLN5):c.*180C>T	SNV Germline	Chr13:77001149	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10634506	rs_700364	2 SubmittersRCV000286703 RCV001109220 RCV001576894
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)	SNV Germline	Chr11:6614585	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 not specified Condition: not provided TPP1-related disorder	Criteria Provided Conflicting Classifications	CA5858594	rs_372564255	6 SubmittersRCV000365676 RCV000444737 RCV000726663 RCV004554762
NM_000391.4(TPP1):c.1116C>T (p.His372=)	SNV Germline	Chr11:6616034	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10635359	rs_751321300	2 SubmittersRCV000354560 RCV002056219
NM_017882.3(CLN6):c.487-12T>A	SNV Germline	Chr15:68211330	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA7630571	rs_571940397	3 SubmittersRCV000304343 RCV000440941
NM_001042432.2(CLN3):c.*99C>T	SNV Germline	Chr16:28477417	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10637481	rs_113845299	2 SubmittersRCV000310613 RCV001120926 RCV001545836
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)	SNV Germline	Chr16:28477624	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA7980643	rs_377369610	3 SubmittersRCV000330765 RCV000544564 RCV001707651 RCV001116002
NM_001042432.2(CLN3):c.837+5G>A	SNV Germline	Chr16:28482621	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Retinitis pigmentosa Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7980808	rs_756848924	8 SubmittersRCV000286126 RCV001052203 RCV000504683 RCV000672125 RCV003278764
NM_001042432.2(CLN3):c.327C>T (p.Leu109=)	SNV Germline	Chr16:28487709	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA7980971	rs_748293490	2 SubmittersRCV000315181 RCV000632735 RCV001121025
NM_001909.5(CTSD):c.90G>A (p.Thr30=)	SNV Germline	Chr11:1761447	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10 Neuronal ceroid lipofuscinosis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5814296	rs_368529527	5 SubmittersRCV000304091 RCV000632764 RCV002314044 RCV001711904
NM_000391.4(TPP1):c.886+7C>T	SNV Germline	Chr11:6616654	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10639086	rs_886048543	2 SubmittersRCV000289036 RCV001476514
NM_006493.4(CLN5):c.566-7A>G	SNV Germline	Chr13:77000451	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA7007230	rs_772501269	4 SubmittersRCV000277190 RCV001113464 RCV000981024 RCV000431986
NM_006493.4(CLN5):c.642A>T (p.Val214=)	SNV Germline	Chr13:77000534	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7007238	rs_751496223	7 SubmittersRCV000332312 RCV000632739 RCV001114857 RCV000440562 RCV002418163
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)	SNV Germline	Chr11:6615315	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5858679	rs_577520250	4 SubmittersRCV000357888 RCV000867657
NM_017882.3(CLN6):c.213C>G (p.Leu71=)	SNV Germline	Chr15:68214374	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7630663	rs_146980624	3 SubmittersRCV000424102 RCV000867995
NM_001042432.2(CLN3):c.1057-14C>A	SNV Germline	Chr16:28477891	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7980695	rs_773692029	2 SubmittersRCV000263814 RCV001116006 RCV002522839
NM_001042432.2(CLN3):c.677+8G>A	SNV Germline	Chr16:28486339	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7980867	rs_368568189	8 SubmittersRCV000284676 RCV000424611 RCV000866200 RCV001119057 RCV001579402
NM_001042432.2(CLN3):c.-129G>C	SNV Germline	Chr16:28492072	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10643345	rs_141305257	2 SubmittersRCV000323062 RCV001117548 RCV001551586
NM_001042432.1(CLN3):c.-264C>G	SNV Germline	Chr16:28492207	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Condition: not provided Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA10643350	rs_187163584	2 SubmittersRCV000264464 RCV001571799 RCV001117551
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=)	SNV Germline	Chr20:63930967	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Neuronal Ceroid-Lipofuscinosis, Recessive Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Criteria Provided Conflicting Classifications	CA9969747	rs_746222594	3 SubmittersRCV000921975 RCV000385002 RCV002328865 RCV001139076
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)	SNV Germline	Chr20:63930973	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Criteria Provided Conflicting Classifications	CA9969748	rs_772254851	4 SubmittersRCV000290863 RCV000726834 RCV001088544 RCV001139077
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=)	SNV Germline	Chr20:63931475	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10644394	rs_886056935	3 SubmittersRCV000331893 RCV001488005 RCV001139078 RCV002338941
NM_006493.4(CLN5):c.*310T>C	SNV Germline	Chr13:77001279	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 5 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	Criteria Provided Conflicting Classifications	CA10644802	rs_553934239	1 SubmittersRCV001111551 RCV000403374
NM_002087.4(GRN):c.393C>T (p.Phe131=)	SNV Germline	Chr17:44350271	Conflicting classifications of pathogenicity	Frontotemporal dementia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Conflicting Classifications	CA8601872	rs_149180605	2 SubmittersRCV000349606 RCV002056604
NM_017882.3(CLN6):c.298-15C>T	SNV Germline	Chr15:68211878	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis not specified CLN6-related disorder	Criteria Provided Conflicting Classifications	CA7630631	rs_368661456	4 SubmittersRCV000321713 RCV000428295 RCV003920331
NM_002087.4(GRN):c.1641C>T (p.Arg547=)	SNV Germline	Chr17:44352568	Conflicting classifications of pathogenicity	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions not specified Inborn genetic diseases GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Conflicting Classifications	CA8602254	rs_149658268	4 SubmittersRCV000267441 RCV001660668 RCV002402044 RCV003765880
NM_002087.4(GRN):c.1647C>T (p.Gly549=)	SNV Germline	Chr17:44352663	Conflicting classifications of pathogenicity	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Conflicting Classifications	CA8602270	rs_745391227	2 SubmittersRCV000317858 RCV002522981
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg)	SNV Germline	Chr20:63929326	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA9969653	rs_528096976	2 SubmittersRCV000320350 RCV001136833 RCV002523173
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)	SNV Germline	Chr1:40089417	Pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA16040728	rs_386833650	2 SubmittersRCV000409681
NM_000310.4(PPT1):c.362+1G>A	SNV Germline	Chr1:40092044	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA16040729	rs_1057517401	3 SubmittersRCV000410545
NM_000310.4(PPT1):c.327C>A (p.Tyr109Ter)	SNV Unknown	Chr1:40092080	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA16040730	rs_1057516447	1 SubmittersRCV000409057
NM_000310.4(PPT1):c.124+2T>A	SNV Unknown	Chr1:40097113	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA16040733	rs_1057517368	1 SubmittersRCV000410017
NM_000310.4(PPT1):c.8C>A (p.Ser3Ter)	SNV Unknown	Chr1:40097231	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA16040735	rs_747204624	1 SubmittersRCV000410504
NM_018941.4(CLN8):c.543+1G>T	SNV Germline	Chr8:1771598	Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA4599282	rs_756267448	2 SubmittersRCV000410670 RCV001850955
NM_000391.4(TPP1):c.1552-1G>A	SNV Unknown	Chr11:6614687	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA16041509	rs_1057516511	1 SubmittersRCV000409021
NM_000391.4(TPP1):c.1551+1G>C	SNV Germline	Chr11:6614865	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA16041510	rs_786204553	4 SubmittersRCV000411444 RCV001038809 RCV005049534
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)	SNV Germline	Chr11:6615449	Pathogenic	Neuronal ceroid lipofuscinosis 2 Abnormality of the nervous system Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041512	rs_1057516319	4 SubmittersRCV000411513 RCV001814153 RCV005049533 RCV005415567
NM_000391.4(TPP1):c.1145+1G>A	SNV Germline	Chr11:6616004	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA16041513	rs_113019349	2 SubmittersRCV000411197 RCV001378362
NM_000391.4(TPP1):c.687+2T>G	SNV Germline	Chr11:6616973	Pathogenic	Neuronal ceroid lipofuscinosis 2 Abnormality of the nervous system	Criteria Provided Single Submitter	CA16041515	rs_1057516945	2 SubmittersRCV000411672 RCV001836808
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)	SNV Germline	Chr11:6617022	Pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA5858889	rs_752164603	3 SubmittersRCV000411357 RCV003114527
NM_000391.4(TPP1):c.230-1G>C	SNV Unknown	Chr11:6617777	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA16041517	rs_1057516667	1 SubmittersRCV000410411
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)	SNV Germline	Chr13:77000685	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA16041688	rs_764495616	3 SubmittersRCV000412162 RCV001850973
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)	SNV Germline	Chr13:77000850	Pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA16041689	rs_750935331	3 SubmittersRCV000411598 RCV003766127
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)	SNV Germline	Chr16:28477875	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA16041784	rs_1057516677	4 SubmittersRCV000410540 RCV000989587
NM_001042432.2(CLN3):c.963-1G>A	SNV Germline	Chr16:28482199	Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA16041785	rs_386833742	3 SubmittersRCV000410762 RCV001861373
NM_001042432.2(CLN3):c.962+1G>A	SNV Unknown	Chr16:28482326	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA16041786	rs_1057516267	1 SubmittersRCV000409352
NM_001042432.2(CLN3):c.906+2T>A	SNV Germline	Chr16:28482475	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA7980777	rs_771788391	4 SubmittersRCV000726946 RCV000410383 RCV002523852
NM_001042432.2(CLN3):c.791-1G>A	SNV Unknown	Chr16:28482673	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA16041787	rs_1057517350	1 SubmittersRCV000412040
NM_001042432.2(CLN3):c.677+1G>T	SNV Unknown	Chr16:28486346	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	Criteria Provided Single Submitter	CA16041789	rs_1057517287	2 SubmittersRCV000410679
NM_001042432.2(CLN3):c.46+1G>A	SNV Germline	Chr16:28491713	Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA16041791	rs_1057516343	3 SubmittersRCV000409491 RCV001379345
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr)	SNV Germline	Chr16:28491758	Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Condition: not provided	Criteria Provided Single Submitter	CA7981127	rs_777625354	2 SubmittersRCV000409421 RCV003333982
NM_001371596.2(MFSD8):c.1351-2A>G	SNV Germline	Chr4:127920838	Likely pathogenic	Condition: not provided Late-infantile neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA16042547	rs_1057518388	2 SubmittersRCV000413554 RCV001833502
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg)	SNV Germline	Chr13:76995986	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5	Criteria Provided Conflicting Classifications	CA7007202	rs_201464545	6 SubmittersRCV000414655 RCV000686723 RCV001275303
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)	SNV Germline	Chr15:68208178	Conflicting classifications of pathogenicity	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7630447	rs_750937323	5 SubmittersRCV000416280 RCV000675067 RCV002248651 RCV005238972 RCV001865306
NM_000310.4(PPT1):c.740A>G (p.Tyr247Cys)	SNV Germline	Chr1:40076900	Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA789571	rs_764051026	2 SubmittersRCV000420750 RCV001341505
NM_000310.4(PPT1):c.363-5C>T	SNV Germline	Chr1:40091404	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA789725	rs_112553480	3 SubmittersRCV000863869 RCV001720069 RCV002450977
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=)	SNV Germline	Chr4:127921963	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 7	Criteria Provided Conflicting Classifications	CA16605069	rs_1057520312	2 SubmittersRCV000418664 RCV003223403
NM_000391.4(TPP1):c.887-18A>G	SNV Germline	Chr11:6616521	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA16606000	rs_935526225	3 SubmittersRCV000428562 RCV000984313
NM_018941.4(CLN8):c.513C>G (p.Pro171=)	SNV Germline	Chr8:1771567	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Inborn genetic diseases Condition: not provided CLN8-related disorder	Criteria Provided Conflicting Classifications	CA4599279	rs_376910635	6 SubmittersRCV001081197 RCV002339051 RCV000726643 RCV004539856
NM_001909.5(CTSD):c.828-5C>T	SNV Germline	Chr11:1754143	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Inborn genetic diseases CTSD-related disorder	Criteria Provided Conflicting Classifications	CA5814007	rs_762444592	4 SubmittersRCV000441533 RCV002062325 RCV002318407 RCV003970137
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)	SNV Germline	Chr11:6616332	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA5858785	rs_145966505	5 SubmittersRCV000437106 RCV001375972 RCV002313067 RCV005049548
NM_001909.5(CTSD):c.69-17C>A	SNV Germline	Chr11:1761485	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA5814306	rs_371858126	2 SubmittersRCV000431899 RCV001861492
NM_001042432.2(CLN3):c.125+3G>A	SNV Germline	Chr16:28491479	Conflicting classifications of pathogenicity	Condition: not provided not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA7981071	rs_775577824	5 SubmittersRCV000675978 RCV000428334 RCV000632694 RCV001729593
NM_001042432.2(CLN3):c.47-11C>A	SNV Germline	Chr16:28491571	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7981092	rs_561083322	2 SubmittersRCV001698169 RCV002521739
NM_017882.3(CLN6):c.407G>A (p.Arg136His)	SNV Germline	Chr15:68211754	Conflicting classifications of pathogenicity	Abnormal brain morphology Neuronal ceroid lipofuscinosis not specified Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630612	rs_769701646	5 SubmittersRCV000454168 RCV001379796 RCV000499595 RCV003224283
NM_000310.4(PPT1):c.234+7C>T	SNV Germline	Chr1:40092391	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA789777	rs_200777536	3 SubmittersRCV000461907
NM_000310.4(PPT1):c.810G>C (p.Gly270=)	SNV Germline	Chr1:40074172	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA789551	rs_371213189	2 SubmittersRCV000733525 RCV001084729
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser)	SNV Germline	Chr11:1757517	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5814148	rs_775460488	2 SubmittersRCV000476391 RCV005318398
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)	SNV Germline	Chr4:127920826	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Inborn genetic diseases Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3077232	rs_559155109	13 SubmittersRCV000480079 RCV000505174 RCV000505013 RCV000504782 RCV000805545 RCV001542748 RCV002313243 RCV001805096 RCV005027540 RCV005418155
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)	SNV Germline	Chr8:1780502	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599354	rs_766292710	4 SubmittersRCV000479521 RCV001273356 RCV001851272 RCV003278837
NM_017882.3(CLN6):c.84-1G>A	SNV Germline	Chr15:68218651	Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA16620001	rs_1064796787	3 SubmittersRCV000484435 RCV002525960 RCV005004187
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	SNV Germline	Chr16:28477620	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Neuronal ceroid lipofuscinosis Retinal dystrophy Neuronal ceroid lipofuscinosis 3	Criteria Provided Multiple Submitters No Conflicts	CA7980640	rs_139842473	17 SubmittersRCV000487188 RCV000504756 RCV000559381 RCV001075708 RCV001253588
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)	SNV Germline	Chr16:28484012	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA16620176	rs_1064794233	5 SubmittersRCV000480738 RCV001729612 RCV003532139 RCV005614409
NM_001042432.2(CLN3):c.461-3C>G	SNV Germline	Chr16:28486653	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Multiple Submitters No Conflicts	CA16620180	rs_181995380	4 SubmittersRCV000483799 RCV001060717 RCV001729613
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)	SNV Germline	Chr16:28488647	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases CLN3-related disorder	Criteria Provided Conflicting Classifications	CA7981009	rs_150348015	6 SubmittersRCV000632734 RCV001721545 RCV001729611 RCV002455909 RCV003902720
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)	SNV Germline	Chr11:66566329	Conflicting classifications of pathogenicity	Condition: not provided CTSF-related disorder Neuronal ceroid lipofuscinosis 13 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6125485	rs_148611356	7 SubmittersRCV000487825 RCV003932784 RCV001085523 RCV002318587
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)	SNV Germline	Chr11:6615257	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA217321529	rs_1035033641	3 SubmittersRCV000489192 RCV001829405
NM_000391.4(TPP1):c.1146-1G>A	SNV Germline	Chr11:6615563	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA379473210	rs_1131691676	3 SubmittersRCV001829413 RCV000494500 RCV003403142
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter)	SNV Germline	Chr11:6616760	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA379475071	rs_1131691539	3 SubmittersRCV000494434 RCV004800428
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)	SNV Germline	Chr4:127943775	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA3077486	rs_749704755	5 SubmittersRCV000496155 RCV005027573 RCV002222533
NM_017882.3(CLN6):c.722T>C (p.Met241Thr)	SNV Germline	Chr15:68208354	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA392972143	rs_1555438255	2 SubmittersRCV000498748 RCV001203261
NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu)	SNV Germline	Chr20:63931495	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9969802	rs_761982169	4 SubmittersRCV000498553 RCV001049122 RCV004796208 RCV004023327
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)	SNV Germline	Chr16:28486348	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA395345175	rs_1555468695	3 SubmittersRCV000513241 RCV001199670 RCV001857319
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln)	SNV Germline	Chr11:6619202	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5859069	rs_369126677	5 SubmittersRCV000516351 RCV001298569 RCV001274547 RCV002316473
NM_002087.4(GRN):c.6G>A (p.Trp2Ter)	SNV Germline	Chr17:44349170	Pathogenic/Likely pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA399758984	rs_1555610855	2 SubmittersRCV000516487 RCV005222987
NM_002087.4(GRN):c.599-1G>A	SNV Germline	Chr17:44350690	Pathogenic/Likely pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA399764061	rs_1555611154	2 SubmittersRCV000516967 RCV003766924
NM_002087.4(GRN):c.898C>T (p.Gln300Ter)	SNV Germline	Chr17:44351425	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Multiple Submitters No Conflicts	CA399764943	rs_1555611253	6 SubmittersRCV000517994 RCV001218285 RCV003234777
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)	SNV Germline	Chr17:44351688	Pathogenic/Likely pathogenic	Condition: not provided GRN-related disorder GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA399765702	rs_1555611293	4 SubmittersRCV000517776 RCV004553130 RCV002527479
NM_002087.4(GRN):c.1414-2A>G	SNV Germline	Chr17:44352339	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA399769494	rs_1555611412	2 SubmittersRCV000516768 RCV000650260
NM_002087.4(GRN):c.1742A>T (p.Asp581Val)	SNV Germline	Chr17:44352758	Conflicting classifications of pathogenicity	not specified GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 Inborn genetic diseases GRN-related disorder	Criteria Provided Conflicting Classifications	CA8602290	rs_768223928	4 SubmittersRCV000518609 RCV001404573 RCV002314901 RCV004553131
NM_001909.5(CTSD):c.924G>A (p.Val308=)	SNV Germline	Chr11:1754042	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA472140894	rs_1554962286	2 SubmittersRCV000521730 RCV002060283
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)	SNV Germline	Chr13:76992182	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA7007121	rs_200348035	4 SubmittersRCV000521345 RCV000984156 RCV001858008
NM_000310.4(PPT1):c.627+1G>T	SNV Germline	Chr1:40080396	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA339847537	rs_1265044710	3 SubmittersRCV000544945
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=)	SNV Germline	Chr4:127920717	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 7	Criteria Provided Conflicting Classifications	CA441209228	rs_1477527807	2 SubmittersRCV001145207
NM_001371596.2(MFSD8):c.440-2A>T	SNV Germline	Chr4:127942160	Likely pathogenic	Neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA3077461	rs_751696703	2 SubmittersRCV000533734 RCV004800454
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)	SNV Germline	Chr15:68211716	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630608	rs_747229909	3 SubmittersRCV000551912 RCV005004218
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	SNV Germline	Chr15:68229572	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Ceroid lipofuscinosis, neuronal, 6A not specified	Criteria Provided Conflicting Classifications	CA272398366	rs_886285802	6 SubmittersRCV000534403 RCV000675966 RCV000665418 RCV003330752
NM_017882.3(CLN6):c.271G>A (p.Val91Ile)	SNV Germline	Chr15:68214316	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7630651	rs_140519790	4 SubmittersRCV000541719 RCV000711262 RCV002431546
NM_001042432.2(CLN3):c.222T>C (p.His74=)	SNV Germline	Chr16:28489290	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7981024	rs_201225986	8 SubmittersRCV000536369 RCV001116111 RCV001579990 RCV001702672
NM_018941.4(CLN8):c.1A>G (p.Met1Val)	SNV Germline	Chr8:1771055	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4599166	rs_143730802	3 SubmittersRCV000677235 RCV001229215 RCV005409678
NM_000391.4(TPP1):c.381-2A>G	SNV Germline	Chr11:6617430	Likely pathogenic	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379476090	rs_1554902052	3 SubmittersRCV000589489 RCV000670849 RCV001860125
NM_001371596.2(MFSD8):c.357C>T (p.Cys119=)	SNV Germline	Chr4:127943834	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 7	Criteria Provided Conflicting Classifications	CA441215856	rs_1553950874	2 SubmittersRCV000596886 RCV002062007
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)	SNV Germline	Chr15:68211854	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630628	rs_201095412	6 SubmittersRCV000595470 RCV001051368 RCV000678437 RCV005004259
NM_001909.5(CTSD):c.704+7G>A	SNV Germline	Chr11:1757317	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA5814109	rs_748547852	2 SubmittersRCV000591071 RCV002062024
NM_018941.4(CLN8):c.510G>A (p.Thr170=)	SNV Germline	Chr8:1771564	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599277	rs_759153401	4 SubmittersRCV000591388 RCV001088085 RCV001829650 RCV002341522
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)	SNV Germline	Chr8:1771205	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA4599214	rs_777453297	2 SubmittersRCV000596520 RCV002531040
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)	SNV Germline	Chr4:127930706	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 7 Late-infantile neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA3077328	rs_570989221	3 SubmittersRCV000591840 RCV001078494 RCV001835869
NM_001909.5(CTSD):c.63C>T (p.Leu21=)	SNV Germline	Chr11:1763797	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA216183625	rs_1021613206	3 SubmittersRCV000596155 RCV001480819 RCV002368027
NM_017882.3(CLN6):c.36G>A (p.Ala12=)	SNV Germline	Chr15:68229549	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA272398360	rs_1048000119	2 SubmittersRCV000592887 RCV001478203
NM_001909.5(CTSD):c.411G>A (p.Ser137=)	SNV Germline	Chr11:1759029	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5814183	rs_372999684	3 SubmittersRCV000595979 RCV002062096 RCV002325137
NM_001371596.2(MFSD8):c.553+1G>A	SNV Germline	Chr4:127942044	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement	Criteria Provided Multiple Submitters No Conflicts	CA358175979	rs_1553950197	4 SubmittersRCV000599516 RCV003600384 RCV005034185
NM_001371596.2(MFSD8):c.863+1G>A	SNV Germline	Chr4:127932984	Pathogenic	Late-infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 7 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA105679760	rs_200319160	10 SubmittersRCV000616705 RCV001067482 RCV002529305 RCV001783107
NM_006493.2(CLN5):c.-8G>A	SNV Germline	Chr13:76991944	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 5	Criteria Provided Conflicting Classifications	CA7007061	rs_772316134	2 SubmittersRCV000612639 RCV001109121
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)	SNV Germline	Chr1:40092054	Likely pathogenic	Inborn genetic diseases Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA789741	rs_143657539	5 SubmittersRCV000624853 RCV002282269 RCV002531879
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)	SNV Germline	Chr13:77000567	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA388311935	rs_1555274338	5 SubmittersRCV000627363 RCV000625737 RCV001868156
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)	SNV Germline	Chr15:68208397	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630488	rs_746753722	5 SubmittersRCV000625854 RCV000799881 RCV005004278
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)	SNV Germline	Chr15:68211685	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA501025	rs_919850756	4 SubmittersRCV000625778 RCV002248826 RCV001091348 RCV001868157
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)	SNV Germline	Chr11:6615503	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA379472987	rs_1471156821	3 SubmittersRCV000626244 RCV003884670
NM_017882.3(CLN6):c.185G>A (p.Arg62His)	SNV Germline	Chr15:68218549	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630697	rs_751486476	4 SubmittersRCV000626225 RCV002529782 RCV003228965
NM_000310.4(PPT1):c.362+4C>T	SNV Germline	Chr1:40092041	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA789738	rs_534592472	3 SubmittersRCV000641286 RCV003411517
NM_001371596.2(MFSD8):c.961G>A (p.Val321Ile)	SNV Germline	Chr4:127930720	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 7 Late-infantile neuronal ceroid lipofuscinosis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3077331	rs_76506918	4 SubmittersRCV000640463 RCV001829793 RCV004948514 RCV005091855
NM_001909.5(CTSD):c.111G>A (p.Ser37=)	SNV Germline	Chr11:1761426	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA5814289	rs_535140505	3 SubmittersRCV000632708 RCV000711336
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)	SNV Germline	Chr11:6614982	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5858644	rs_756530648	3 SubmittersRCV001829780 RCV001860495
NM_001909.5(CTSD):c.972+9C>T	SNV Germline	Chr11:1753985	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA5813981	rs_746243061	2 SubmittersRCV000733126 RCV001088576
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu)	SNV Germline	Chr11:1759030	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases CTSD-related disorder	Criteria Provided Conflicting Classifications	CA5814184	rs_777645484	4 SubmittersRCV000632767 RCV001821790 RCV002315951 RCV003945587
NM_017882.3(CLN6):c.733G>A (p.Val245Ile)	SNV Germline	Chr15:68208343	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7630480	rs_377192977	2 SubmittersRCV000632688 RCV005051808
NM_001909.5(CTSD):c.229-19G>A	SNV Germline	Chr11:1759658	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA5814250	rs_368152533	2 SubmittersRCV000658402 RCV001861696
NM_000310.4(PPT1):c.835C>T (p.Gln279Ter)	SNV Unknown	Chr1:40074147	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA339845666	rs_1553166135	1 SubmittersRCV000666663
NM_000310.4(PPT1):c.799-2A>G	SNV Unknown	Chr1:40074185	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA339845854	rs_1553166147	1 SubmittersRCV000668323
NM_000310.4(PPT1):c.363-2A>G	SNV Germline	Chr1:40091401	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA339848944	rs_1553167430	2 SubmittersRCV000667194
NM_000310.4(PPT1):c.798+2T>C	SNV Germline	Chr1:40076840	Pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA339846346	rs_1553166337	3 SubmittersRCV000674642
NM_000310.4(PPT1):c.433+1G>A	SNV Germline	Chr1:40091328	Pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA339848794	rs_1553167415	3 SubmittersRCV000673308
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)	SNV Germline	Chr8:1780469	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA4599348	rs_746397087	3 SubmittersRCV000674890 RCV002544675
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)	SNV Germline	Chr8:1771337	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA4599239	rs_759830733	2 SubmittersRCV000670971 RCV001868250
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)	SNV Unknown	Chr8:1771360	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA369953280	rs_1554449124	1 SubmittersRCV000666024
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)	SNV Germline	Chr8:1771452	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953483	rs_554042394	2 SubmittersRCV000674248 RCV001381243
NM_018941.4(CLN8):c.544-2A>G	SNV Unknown	Chr8:1780248	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA369953795	rs_1554451484	1 SubmittersRCV000668307
NM_018941.4(CLN8):c.2T>C (p.Met1Thr)	SNV Unknown	Chr8:1771056	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA369952681	rs_1554448874	1 SubmittersRCV000671294
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)	SNV Germline	Chr8:1771280	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953125	rs_1554449047	2 SubmittersRCV000672400 RCV002532124
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)	SNV Germline	Chr8:1771366	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953297	rs_1554449136	2 SubmittersRCV000672329 RCV001855577
NM_018941.4(CLN8):c.611G>A (p.Arg204His)	SNV Germline	Chr8:1780317	Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA4599319	rs_386834134	3 SubmittersRCV000673946 RCV001045975
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)	SNV Germline	Chr11:6614892	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA379472297	rs_1184563885	7 SubmittersRCV000666347 RCV001386654 RCV001526988 RCV002530680
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	SNV Germline	Chr11:6618780	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA5859027	rs_368709098	8 SubmittersRCV000668623 RCV001215564 RCV001644760 RCV005049644
NM_000391.4(TPP1):c.1076-1G>A	SNV Germline	Chr11:6616075	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA379473915	rs_1554901731	2 SubmittersRCV000666279 RCV001208874
NM_000391.4(TPP1):c.1076-2A>T	SNV Germline	Chr11:6616076	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379473917	rs_1424116749	3 SubmittersRCV000670860 RCV001379972
NM_000391.4(TPP1):c.1076-2A>G	SNV Germline	Chr11:6616076	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA379473919	rs_1424116749	3 SubmittersRCV000667649 RCV001379383 RCV003230565
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	SNV Germline	Chr11:6616342	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA379474088	rs_1554901784	7 SubmittersRCV003117472 RCV000668234 RCV001058281 RCV005049642
NM_000391.4(TPP1):c.731T>C (p.Met244Thr)	SNV Germline	Chr11:6616816	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA379475182	rs_1554901895	2 SubmittersRCV000672940 RCV005091958
NM_000391.4(TPP1):c.17+1G>A	SNV Germline	Chr11:6619383	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA379477089	rs_779615685	2 SubmittersRCV000668665 RCV003767965
NM_000391.4(TPP1):c.1551+1G>T	SNV Germline	Chr11:6614865	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA379472238	rs_786204553	4 SubmittersRCV000674411 RCV003558528 RCV005049652
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)	SNV Germline	Chr13:76992175	Pathogenic	Neuronal ceroid lipofuscinosis 5	Criteria Provided Multiple Submitters No Conflicts	CA388306486	rs_764790770	3 SubmittersRCV000668838

NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp)

SNV
Germline

Chr4:127930752

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA251659

rs_118203975

2 SubmittersRCV000001056

NM_001371596.2(MFSD8):c.1286G>A (p.Gly429Asp)

SNV
Germline

Chr4:127921588

Pathogenic

Neuronal ceroid lipofuscinosis 7

No Assertion Criteria Provided

CA251660

rs_118203976

1 SubmittersRCV000001057

NM_001371596.2(MFSD8):c.894T>G (p.Tyr298Ter)

SNV
Germline

Chr4:127930787

Pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA251661

rs_118203977

4 SubmittersRCV000001058 RCV001781154 RCV005031377

NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys)

SNV
Germline

Chr4:127943829

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA251663

rs_118203978

4 SubmittersRCV000001059 RCV000188166 RCV004700177

NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)

SNV
Germline

Chr4:127921639

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA251664

rs_267607235

9 SubmittersRCV000001060 RCV003137482 RCV002316184 RCV002222334 RCV002496222

NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)

SNV
Germline

Chr4:127930800

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided
Late-infantile neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA339858

rs_140948465

10 SubmittersRCV000001061 RCV001781155 RCV001826401 RCV002371752

NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)

SNV
Germline

Chr13:76992176

Pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340000

rs_104894385

6 SubmittersRCV000002674 RCV000689128

NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)

SNV
Germline

Chr13:77000580

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA252327

rs_28940280

6 SubmittersRCV000002675 RCV000989152 RCV004689404

NM_006493.4(CLN5):c.188G>A (p.Arg63His)

SNV
Germline

Chr13:76995077

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252330

rs_104894386

8 SubmittersRCV000002676 RCV000698933 RCV003128567

NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)

SNV
Germline

Chr13:77000799

Pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252333

rs_121908292

4 SubmittersRCV000002677 RCV002512684

NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)

SNV
Germline

Chr13:76995119

Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA252336

rs_267606738

2 SubmittersRCV000002678 RCV001039257

NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)

SNV
Germline

Chr13:77000866

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA252339

rs_148862100

7 SubmittersRCV000002679 RCV000493479 RCV001318349

NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)

SNV
Germline

Chr11:6616057

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis
TPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252376

rs_119455953

5 SubmittersRCV000002760 RCV001248011 RCV004579515 RCV004554579

NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)

SNV
Germline

Chr11:6616056

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
TPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252377

rs_119455954

11 SubmittersRCV000002761 RCV000189781 RCV000526403 RCV002496238 RCV004758587

NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)

SNV
Germline

Chr11:6617040

Pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Abnormality of the nervous system
TPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA319182

rs_119455955

30 SubmittersRCV000002762 RCV000230952 RCV000210605 RCV000189769 RCV000763267 RCV001813939 RCV004554580

NM_000391.4(TPP1):c.509-1G>C

SNV
Germline

Chr11:6617154

Pathogenic

Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Condition: not provided
TPP1-related disorder
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA145458

rs_56144125

37 SubmittersRCV000002763 RCV000074608 RCV000210689 RCV000228119 RCV000189765 RCV004554581 RCV000763268

NM_000391.4(TPP1):c.1340G>A (p.Arg447His)

SNV
Germline

Chr11:6615256

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA252378

rs_119455956

9 SubmittersRCV000002764 RCV000189790 RCV005049313

NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)

SNV
Germline

Chr11:6617046

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252379

rs_28940573

7 SubmittersRCV000002765 RCV001382645

NM_000391.4(TPP1):c.851G>T (p.Gly284Val)

SNV
Germline

Chr11:6616696

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA252380

rs_119455957

6 SubmittersRCV000002766 RCV000531153 RCV000763266

NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)

SNV
Germline

Chr11:6616690

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA252381

rs_119455958

4 SubmittersRCV000002767 RCV001851588

NM_000391.4(TPP1):c.887-10A>G

SNV
Germline

Chr11:6616513

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA252382

rs_755445790

5 SubmittersRCV000002768 RCV000359791 RCV005049314

NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)

SNV
Germline

Chr8:1771124

Pathogenic

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA340024

rs_104894064

6 SubmittersRCV000002936 RCV000820654 RCV000409951 RCV005041973

NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)

SNV
Germline

Chr8:1780495

Pathogenic

Neuronal ceroid lipofuscinosis 8
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252416

rs_28940569

3 SubmittersRCV000002937 RCV001090293 RCV001851598

NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)

SNV
Germline

Chr8:1780316

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
CLN8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252418

rs_104894060

9 SubmittersRCV000002938 RCV000805014 RCV002225256 RCV000763180 RCV002291264

NM_018941.4(CLN8):c.88G>C (p.Ala30Pro)

SNV
Germline

Chr8:1771142

Pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA252420

rs_137852883

1 SubmittersRCV000002940

NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)

SNV
Germline

Chr16:28482500

Pathogenic

Ceroid lipofuscinosis, neuronal, 3, protracted
early onset and severe retinal dystrophy
Retinal dystrophy
Neuronal ceroid lipofuscinosis 3
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA116344

rs_121434286

11 SubmittersRCV000003735 RCV001270479 RCV001074385 RCV000055839 RCV004791194 RCV000811923 RCV002512720

NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)

SNV
Germline

Chr16:28486427

Pathogenic

Ceroid lipofuscinosis, neuronal, 3, protracted
Neuronal ceroid lipofuscinosis 3
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA116348

rs_267606737

8 SubmittersRCV000003736 RCV000169443 RCV000760368 RCV000823290

NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)

SNV
Germline

Chr15:68214373

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Multiple Submitters
No Conflicts

CA340155

rs_104894483

8 SubmittersRCV000004292 RCV000492979 RCV001067723 RCV002316185 RCV005003333

NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)

SNV
Germline

Chr15:68211793

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA252981

rs_104894484

5 SubmittersRCV000004294 RCV001851638 RCV005007822 RCV002468959

NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)

SNV
Germline

Chr1:40091398

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA316952

rs_137852695

16 SubmittersRCV000009450 RCV000188724 RCV000581618 RCV000623227

NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)

SNV
Germline

Chr1:40092409

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
PPT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA254577

rs_137852696

13 SubmittersRCV000009451 RCV000188709 RCV001723555 RCV002426497 RCV003407309

NM_000310.4(PPT1):c.236A>G (p.Asp79Gly)

SNV
Germline

Chr1:40092171

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254579

rs_137852697

3 SubmittersRCV000009452 RCV001571117

NM_000310.4(PPT1):c.656T>A (p.Leu219Gln)

SNV
Germline

Chr1:40078630

Pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA254581

rs_137852698

1 SubmittersRCV000009453

NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)

SNV
Germline

Chr1:40097210

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA254584

rs_137852699

11 SubmittersRCV000009454 RCV000188716 RCV005406734 RCV002311509

NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)

SNV
Germline

Chr1:40089495

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Neuronal Ceroid-Lipofuscinosis, Recessive
Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases
PPT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA316936

rs_137852700

35 SubmittersRCV000009455 RCV000352109 RCV000583336 RCV000188718 RCV002316187 RCV003398477

NM_000310.4(PPT1):c.322G>C (p.Gly108Arg)

SNV
Germline

Chr1:40092085

Pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA254588

rs_137852701

1 SubmittersRCV000009458

NM_000310.4(PPT1):c.134G>A (p.Cys45Tyr)

SNV
Germline

Chr1:40092498

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA254590

rs_137852702

2 SubmittersRCV000009459

NM_002087.4(GRN):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:44349166

Pathogenic

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

Criteria Provided
Single Submitter

CA225193

rs_63751006

3 SubmittersRCV000017381 RCV000084419 RCV002513073

NM_002087.4(GRN):c.835+1G>A

SNV
Germline

Chr17:44351164

Likely pathogenic

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

Criteria Provided
Single Submitter

CA257408

rs_606231221

2 SubmittersRCV000017385 RCV002513075

NM_002087.4(GRN):c.26C>A (p.Ala9Asp)

SNV
Germline

Chr17:44349190

Pathogenic

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

CA225199

rs_63751243

7 SubmittersRCV000017386 RCV000084421 RCV001851887

NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)

SNV
Germline

Chr17:44352404

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225358

rs_63751294

9 SubmittersRCV000017387 RCV000084491 RCV001039647 RCV004755740 RCV005414320

NM_001909.5(CTSD):c.685T>A (p.Phe229Ile)

SNV
Germline

Chr11:1757343

Pathogenic

Neuronal ceroid lipofuscinosis 10

No Assertion Criteria Provided

CA258041

rs_121912789

1 SubmittersRCV000019134

NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)

SNV
Germline

Chr11:1753593

Pathogenic

Neuronal ceroid lipofuscinosis 10

No Assertion Criteria Provided

CA258042

rs_121912790

1 SubmittersRCV000019135

NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)

SNV
Germline

Chr15:68211853

Pathogenic/Likely pathogenic

Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Multiple Submitters
No Conflicts

CA259851

rs_154774634

7 SubmittersRCV000058911 RCV000675061 RCV001378313 RCV001787031 RCV005003402

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

SNV
Germline

Chr7:66638912

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129977

rs_387907246

6 SubmittersRCV000030608 RCV000519234 RCV000548914 RCV001582502 RCV002513270

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

SNV
Germline

Chr7:66633410

Pathogenic/Likely pathogenic

Progressive myoclonic epilepsy type 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA130028

rs_387907260

7 SubmittersRCV000030687 RCV005417439

NM_000310.4(PPT1):c.114G>A (p.Trp38Ter)

SNV
Germline

Chr1:40097125

Pathogenic

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA263458

rs_386833626

2 SubmittersRCV000049553 RCV005055553

NM_000310.4(PPT1):c.114G>T (p.Trp38Cys)

SNV
Germline

Chr1:40097125

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
not specified

Criteria Provided
Conflicting Classifications

CA263461

rs_386833626

3 SubmittersRCV000049554 RCV005430954

NM_000310.4(PPT1):c.117T>A (p.His39Gln)

SNV
Unknown

Chr1:40097122

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263468

rs_386833627

1 SubmittersRCV000049586

NM_000310.4(PPT1):c.124+1G>A

SNV
Unknown

Chr1:40097114

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA263470

rs_386833628

2 SubmittersRCV000049587

NM_000310.4(PPT1):c.125-15T>G

SNV
Germline

Chr1:40092522

Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Single Submitter

CA263471

rs_386833629

2 SubmittersRCV000049588 RCV004589543

NM_000310.4(PPT1):c.125-2A>G

SNV
Unknown

Chr1:40092509

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263472

rs_386833630

1 SubmittersRCV000049589

NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)

SNV
Germline

Chr1:40092507

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA263473

rs_386833631

5 SubmittersRCV000049590 RCV003317067

NM_000310.4(PPT1):c.163A>T (p.Lys55Ter)

SNV
Unknown

Chr1:40092469

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA263478

rs_386833633

2 SubmittersRCV000049592

NM_000310.4(PPT1):c.235-3T>C

SNV
Unknown

Chr1:40092175

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263483

rs_386833636

1 SubmittersRCV000049595

NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)

SNV
Germline

Chr1:40092135

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
not specified

Criteria Provided
Conflicting Classifications

CA263490

rs_386833639

5 SubmittersRCV000049598 RCV004700344

NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)

SNV
Germline

Chr1:40092120

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA263493

rs_386833640

6 SubmittersRCV000049599 RCV005430955

NM_000310.4(PPT1):c.310A>T (p.Lys104Ter)

SNV
Unknown

Chr1:40092097

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263496

rs_386833641

1 SubmittersRCV000049600

NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)

SNV
Germline

Chr1:40092082

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263499

rs_386833642

5 SubmittersRCV000049601 RCV000188711

NM_000310.4(PPT1):c.363-3T>G

SNV
Unknown

Chr1:40091402

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263501

rs_386833643

1 SubmittersRCV000049602

NM_000310.4(PPT1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:40097236

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA263503

rs_386833645

7 SubmittersRCV000049604 RCV000589397 RCV002225282 RCV002514251

NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)

SNV
Germline

Chr1:40091349

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263506

rs_386833646

8 SubmittersRCV000049605 RCV003226183

NM_000310.4(PPT1):c.455G>A (p.Cys152Tyr)

SNV
Unknown

Chr1:40089491

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263508

rs_386833647

1 SubmittersRCV000049606

NM_000310.4(PPT1):c.456C>A (p.Cys152Ter)

SNV
Unknown

Chr1:40089490

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263510

rs_386833648

1 SubmittersRCV000049607

NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)

SNV
Germline

Chr1:40089456

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263513

rs_386833649

7 SubmittersRCV000049608 RCV004700345

NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)

SNV
Germline

Chr1:40089417

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263516

rs_386833650

6 SubmittersRCV000049609 RCV000188719

NM_000310.4(PPT1):c.536+1G>A

SNV
Germline

Chr1:40089409

Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis
Abnormality of the nervous system

Criteria Provided
Single Submitter

CA263518

rs_386833651

3 SubmittersRCV000049610 RCV000584560 RCV001814032

NM_000310.4(PPT1):c.536+2T>C

SNV
Unknown

Chr1:40089408

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263519

rs_386833652

1 SubmittersRCV000049611

NM_000310.4(PPT1):c.541G>T (p.Val181Leu)

SNV
Germline

Chr1:40080483

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Neuronal ceroid lipofuscinosis
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA263521

rs_148412181

8 SubmittersRCV000049613 RCV000436288 RCV001526944 RCV004584340

NM_000310.4(PPT1):c.544C>T (p.Gln182Ter)

SNV
Unknown

Chr1:40080480

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263523

rs_386833654

1 SubmittersRCV000049614

NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)

SNV
Germline

Chr1:40080474

Pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263526

rs_386833655

8 SubmittersRCV000049615 RCV000731854 RCV002345360 RCV003155060

NM_000310.4(PPT1):c.558G>A (p.Trp186Ter)

SNV
Unknown

Chr1:40080466

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263529

rs_386833656

1 SubmittersRCV000049616

NM_000310.4(PPT1):c.560A>G (p.His187Arg)

SNV
Unknown

Chr1:40080464

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263532

rs_386833657

1 SubmittersRCV000049617

NM_000310.4(PPT1):c.566C>G (p.Pro189Arg)

SNV
Unknown

Chr1:40080458

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263534

rs_386833658

1 SubmittersRCV000049618

NM_000310.4(PPT1):c.628-1G>T

SNV
Germline

Chr1:40078659

Pathogenic

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263536

rs_386833659

6 SubmittersRCV000049619 RCV000587410

NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)

SNV
Germline

Chr1:40078621

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Spastic ataxia
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263538

rs_386833661

6 SubmittersRCV000049621 RCV001646987 RCV001192781

NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)

SNV
Germline

Chr1:40078612

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA263540

rs_386833662

8 SubmittersRCV000049622 RCV001778693 RCV003328554

NM_000310.4(PPT1):c.683T>G (p.Val228Gly)

SNV
Unknown

Chr1:40078603

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263543

rs_386833663

1 SubmittersRCV000049623

NM_000310.4(PPT1):c.727-2A>T

SNV
Germline

Chr1:40076915

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263545

rs_386833664

5 SubmittersRCV000049624 RCV000224164

NM_000310.4(PPT1):c.739T>C (p.Tyr247His)

SNV
Germline

Chr1:40076901

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263546

rs_386833665

5 SubmittersRCV000049625 RCV000726872 RCV003317068

NM_000310.4(PPT1):c.749G>T (p.Gly250Val)

SNV
Unknown

Chr1:40076891

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263548

rs_386833666

1 SubmittersRCV000049626

NM_000310.4(PPT1):c.871C>T (p.Gln291Ter)

SNV
Germline

Chr1:40074111

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA263551

rs_386833668

2 SubmittersRCV000049628

NM_000310.4(PPT1):c.886T>C (p.Trp296Arg)

SNV
Unknown

Chr1:40074096

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263554

rs_386833669

1 SubmittersRCV000049629

NM_000310.4(PPT1):c.888G>A (p.Trp296Ter)

SNV
Germline

Chr1:40074094

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA263556

rs_386833670

3 SubmittersRCV000049630 RCV001753468

NM_000310.4(PPT1):c.914T>C (p.Leu305Pro)

SNV
Unknown

Chr1:40074068

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263559

rs_386833671

1 SubmittersRCV000049631

NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)

SNV
Germline

Chr16:28482161

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263593

rs_386833694

5 SubmittersRCV000049655 RCV000588369

NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)

SNV
Germline

Chr16:28482160

Pathogenic

Neuronal ceroid lipofuscinosis 3
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263597

rs_386833695

6 SubmittersRCV000049656 RCV004700346 RCV000696638

NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)

SNV
Germline

Chr16:28482107

Pathogenic

Neuronal ceroid lipofuscinosis 3
Condition: not provided
Neuronal ceroid lipofuscinosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA263602

rs_386833697

10 SubmittersRCV000049658 RCV000579238 RCV001804785 RCV004814987

NM_001042432.2(CLN3):c.1056+3A>C

SNV
Germline

Chr16:28482102

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263607

rs_386833698

5 SubmittersRCV000049659 RCV000819629

NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)

SNV
Unknown

Chr16:28482105

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263608

rs_386833699

1 SubmittersRCV000049660

NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)

SNV
Germline

Chr16:28491502

Pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263613

rs_386833700

5 SubmittersRCV000049661 RCV001217036 RCV000760369

NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)

SNV
Germline

Chr16:28477739

Pathogenic

Neuronal ceroid lipofuscinosis 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263618

rs_386833701

5 SubmittersRCV000049662 RCV001091646

NM_001042432.2(CLN3):c.1198-1G>T

SNV
Germline

Chr16:28477636

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA263623

rs_386833702

5 SubmittersRCV000049663 RCV001380722 RCV002336200

NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)

SNV
Germline

Chr16:28477586

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263624

rs_386833703

3 SubmittersRCV000049664 RCV003317069

NM_001042432.2(CLN3):c.125+5G>A

SNV
Germline

Chr16:28491477

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263629

rs_386833704

3 SubmittersRCV000049665 RCV001051149

NM_001042432.2(CLN3):c.126-1G>A

SNV
Unknown

Chr16:28489387

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263630

rs_386833705

1 SubmittersRCV000049666

NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)

SNV
Germline

Chr16:28477565

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA263631

rs_386833706

3 SubmittersRCV000049667

NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)

SNV
Germline

Chr16:28491759

Pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA263637

rs_386833708

2 SubmittersRCV000049669 RCV002513684

NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)

SNV
Germline

Chr16:28489298

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263642

rs_386833709

4 SubmittersRCV000049670 RCV000812617

NM_001042432.2(CLN3):c.222+2T>G

SNV
Unknown

Chr16:28489288

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263647

rs_386833710

1 SubmittersRCV000049671

NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr16:28488620

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA263650

rs_386833713

5 SubmittersRCV000049674 RCV001199876 RCV002426609

NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro)

SNV
Unknown

Chr16:28487734

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263656

rs_386833714

1 SubmittersRCV000049675

NM_001042432.2(CLN3):c.461-13G>C

SNV
Unknown

Chr16:28486663

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263673

rs_386833721

1 SubmittersRCV000049682

NM_001042432.2(CLN3):c.461-1G>A

SNV
Germline

Chr16:28486651

Pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA263674

rs_386833722

2 SubmittersRCV000049683 RCV001853042

NM_001042432.2(CLN3):c.461-1G>C

SNV
Unknown

Chr16:28486651

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263675

rs_386833722

1 SubmittersRCV000049684

NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter)

SNV
Unknown

Chr16:28486629

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263681

rs_386833724

1 SubmittersRCV000049686

NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)

SNV
Unknown

Chr16:28486626

Pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA263686

rs_386833725

2 SubmittersRCV000049687

NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter)

SNV
Unknown

Chr16:28491558

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263691

rs_386833726

1 SubmittersRCV000049688

NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro)

SNV
Germline

Chr16:28486602

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
not specified

Criteria Provided
Conflicting Classifications

CA263696

rs_386833727

3 SubmittersRCV000049689 RCV004586525

NM_001042432.2(CLN3):c.533+1G>A

SNV
Germline

Chr16:28486577

Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Retinal dystrophy

Criteria Provided
Single Submitter

CA263700

rs_386833728

2 SubmittersRCV000049690 RCV001075762

NM_001042432.2(CLN3):c.533+1G>C

SNV
Germline

Chr16:28486577

Pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA263701

rs_386833728

4 SubmittersRCV000049691 RCV001853043

NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala)

SNV
Unknown

Chr16:28486464

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263703

rs_386833730

1 SubmittersRCV000049693

NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)

SNV
Germline

Chr16:28486459

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263707

rs_386833731

3 SubmittersRCV000049694 RCV001853045

NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)

SNV
Germline

Chr16:28486393

Pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263724

rs_386833737

4 SubmittersRCV000049700 RCV001239013

NM_001042432.2(CLN3):c.790+3A>C

SNV
Germline

Chr16:28484003

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
Condition: not provided
Ceroid lipofuscinosis, neuronal, 3, protracted
Neuronal ceroid lipofuscinosis
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA263729

rs_386833738

7 SubmittersRCV000049701 RCV000187036 RCV000625880 RCV001087503 RCV001797616 RCV004814988

NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)

SNV
Germline

Chr16:28482500

Pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263730

rs_121434286

7 SubmittersRCV000049702 RCV001055217 RCV001552759

NM_001042432.2(CLN3):c.906+5G>A

SNV
Unknown

Chr16:28482472

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263735

rs_386833739

1 SubmittersRCV000049703

NM_001042432.2(CLN3):c.963-1G>T

SNV
Unknown

Chr16:28482199

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263738

rs_386833742

1 SubmittersRCV000049706

NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter)

SNV
Unknown

Chr16:28482182

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263739

rs_386833743

1 SubmittersRCV000049707

NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)

SNV
Germline

Chr16:28482173

Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263744

rs_386833744

3 SubmittersRCV000049708 RCV001378302

NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter)

SNV
Unknown

Chr13:77000771

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

No Assertion Criteria Provided

CA263873

rs_386833963

1 SubmittersRCV000049938

NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)

SNV
Germline

Chr13:77000882

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA263880

rs_386833968

5 SubmittersRCV000049943 RCV000823474 RCV001092076

NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)

SNV
Germline

Chr13:76995077

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA263884

rs_104894386

6 SubmittersRCV000049946 RCV000989149 RCV004689440

NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)

SNV
Germline

Chr13:76995175

Pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263887

rs_386833971

7 SubmittersRCV000049947 RCV001058589

NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)

SNV
Germline

Chr13:76995939

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263891

rs_386833972

6 SubmittersRCV000049949 RCV002265586

NM_006493.4(CLN5):c.418C>T (p.Gln140Ter)

SNV
Unknown

Chr13:76995980

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

No Assertion Criteria Provided

CA263895

rs_386833974

1 SubmittersRCV000049951

NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)

SNV
Germline

Chr13:76995990

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263898

rs_386833975

6 SubmittersRCV000049952 RCV000989151 RCV004589544

NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)

SNV
Germline

Chr13:76996028

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA263904

rs_386833977

6 SubmittersRCV000049954 RCV001853061

NM_006493.4(CLN5):c.473G>C (p.Trp158Ser)

SNV
Unknown

Chr13:76996035

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

No Assertion Criteria Provided

CA263907

rs_386833978

1 SubmittersRCV000049955

NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)

SNV
Germline

Chr13:76996086

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263911

rs_386833980

10 SubmittersRCV000049957 RCV000187071 RCV000818212

NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)

SNV
Germline

Chr13:77000517

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263914

rs_386833981

5 SubmittersRCV000049958 RCV003531948

NM_018941.4(CLN8):c.209G>A (p.Arg70His)

SNV
Germline

Chr8:1771263

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA264159

rs_386834124

8 SubmittersRCV000050117 RCV000464589 RCV000623329 RCV005625253

NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)

SNV
Unknown

Chr8:1771281

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264161

rs_386834125

1 SubmittersRCV000050118

NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)

SNV
Unknown

Chr8:1771374

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264163

rs_386834126

1 SubmittersRCV000050119

NM_018941.4(CLN8):c.464C>T (p.Ala155Val)

SNV
Unknown

Chr8:1771518

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264167

rs_386834128

1 SubmittersRCV000050121

NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)

SNV
Germline

Chr8:1771527

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA264172

rs_386834130

9 SubmittersRCV000050123 RCV001377678 RCV002483067 RCV002514269

NM_018941.4(CLN8):c.507C>T (p.Ser169=)

SNV
Unknown

Chr8:1771561

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264174

rs_386834131

2 SubmittersRCV000050124

NM_018941.4(CLN8):c.509C>T (p.Thr170Met)

SNV
Germline

Chr8:1771563

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA264177

rs_188259026

4 SubmittersRCV000050125 RCV001753470 RCV003387747

NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)

SNV
Unknown

Chr8:1780287

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264180

rs_386834133

1 SubmittersRCV000050127

NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)

SNV
Germline

Chr8:1780317

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA264182

rs_386834134

3 SubmittersRCV000050128 RCV000632701 RCV002222375

NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)

SNV
Unknown

Chr8:1780472

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264191

rs_386834138

1 SubmittersRCV000050132

NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)

SNV
Germline

Chr11:66565833

Pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

CA144616

rs_397514731

2 SubmittersRCV000054490

NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala)

SNV
Germline

Chr11:66564095

Pathogenic

Neuronal ceroid lipofuscinosis 13

No Assertion Criteria Provided

CA144617

rs_397514732

1 SubmittersRCV000054491

NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)

SNV
Germline

Chr11:66563949

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 13
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA144618

rs_397514733

3 SubmittersRCV000054492 RCV005406794

NM_001371596.2(MFSD8):c.754+2T>A

SNV
Germline

Chr4:127938781

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided
Late-infantile neuronal ceroid lipofuscinosis
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA315968

rs_587778809

7 SubmittersRCV000056142 RCV000188171 RCV001271142 RCV001353040

NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)

SNV
Germline

Chr15:68218584

Pathogenic/Likely pathogenic

Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA284815

rs_154774640

6 SubmittersRCV000058908 RCV000668229 RCV000702360

NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys)

SNV
Germline

Chr11:6616363

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA266177

rs_121908197

3 SubmittersRCV000059616 RCV001069102 RCV005237495

NM_000391.4(TPP1):c.1154T>A (p.Val385Asp)

SNV
Germline

Chr11:6615554

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA266179

rs_121908198

2 SubmittersRCV000059618 RCV001854251

NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)

SNV
Germline

Chr11:6615542

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266180

rs_121908199

4 SubmittersRCV000059619 RCV000541263

NM_000391.4(TPP1):c.1266G>C (p.Gln422His)

SNV
Germline

Chr11:6615442

Pathogenic

Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Condition: not provided
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA266181

rs_121908200

8 SubmittersRCV000059620 RCV000210643 RCV000189782 RCV000529451 RCV001252369 RCV005049415

NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)

SNV
Germline

Chr11:6615235

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA266182

rs_121908201

2 SubmittersRCV000059621

NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)

SNV
Germline

Chr11:6615179

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA266183

rs_121908203

3 SubmittersRCV000059622 RCV001854252 RCV005049416

NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)

SNV
Germline

Chr11:6615172

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA266184

rs_121908202

9 SubmittersRCV000059623 RCV000800616 RCV002307388 RCV005049417

NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)

SNV
Germline

Chr11:6618776

Pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266187

rs_121908195

3 SubmittersRCV000059626 RCV001731479 RCV001854253

NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)

SNV
Germline

Chr11:6617626

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA266188

rs_121908204

6 SubmittersRCV000059628 RCV000494361 RCV002281905

NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)

SNV
Germline

Chr11:6617057

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA266189

rs_121908205

3 SubmittersRCV000059629 RCV001854254

NM_000391.4(TPP1):c.617G>A (p.Arg206His)

SNV
Germline

Chr11:6617045

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA266190

rs_121908209

7 SubmittersRCV000059630 RCV000469057 RCV001200081 RCV002354256

NM_000391.4(TPP1):c.829G>A (p.Val277Met)

SNV
Germline

Chr11:6616718

Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA266191

rs_121908207

2 SubmittersRCV001778699 RCV000059631

NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)

SNV
Germline

Chr11:6619387

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220703

rs_138976576

13 SubmittersRCV000189797 RCV000723684 RCV000674709 RCV001280958 RCV002316221

NM_000391.4(TPP1):c.840G>C (p.Leu280=)

SNV
Germline

Chr11:6616707

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA289080

rs_140349036

10 SubmittersRCV000118657 RCV000343988 RCV000473376 RCV002311556

NM_001042432.2(CLN3):c.768C>T (p.Thr256=)

SNV
Germline

Chr16:28484028

Conflicting classifications of pathogenicity

not specified
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis 3
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA221451

rs_145967477

11 SubmittersRCV000186619 RCV000324671 RCV001027945 RCV000711257 RCV001082887 RCV002399470

NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)

SNV
Germline

Chr16:3254342

Pathogenic/Likely pathogenic

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA280647

rs_104895127

4 SubmittersRCV000083792 RCV001804836 RCV005016370 RCV004542801

NM_002087.4(GRN):c.102C>T (p.Pro34=)

SNV
Germline

Chr17:44349266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA225209

rs_63751074

3 SubmittersRCV000084426 RCV002055247

NM_002087.4(GRN):c.138+1G>A

SNV
Germline

Chr17:44349303

Pathogenic

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

Criteria Provided
Single Submitter

CA225213

rs_63749844

2 SubmittersRCV000084428 RCV001049316

NM_002087.4(GRN):c.328C>T (p.Arg110Ter)

SNV
Germline

Chr17:44349730

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225231

rs_63750411

8 SubmittersRCV000084436 RCV001291777 RCV001387934 RCV000767861

NM_002087.4(GRN):c.421G>A (p.Val141Ile)

SNV
Germline

Chr17:44350299

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
GRN-related disorder
Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Criteria Provided
Conflicting Classifications

CA225246

rs_63749853

7 SubmittersRCV000084443 RCV002326804 RCV004755767 RCV001854474

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

SNV
Germline

Chr17:44350801

Pathogenic

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

Criteria Provided
Single Submitter

CA225269

rs_63749817

2 SubmittersRCV000084452 RCV001384760

NM_002087.4(GRN):c.709-2A>G

SNV
Germline

Chr17:44351035

Pathogenic

Condition: not provided
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Primary progressive aphasia

Criteria Provided
Multiple Submitters
No Conflicts

CA225270

rs_63750548

6 SubmittersRCV000084453 RCV000704513 RCV000995784 RCV001824019

NM_002087.4(GRN):c.836-1G>C

SNV
Germline

Chr17:44351362

Pathogenic

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

Criteria Provided
Single Submitter

CA225285

rs_63751296

2 SubmittersRCV000084460 RCV000699101

NM_002087.4(GRN):c.911G>A (p.Trp304Ter)

SNV
Germline

Chr17:44351438

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225294

rs_63751177

3 SubmittersRCV000084465 RCV001854477

NM_002087.4(GRN):c.933+1G>A

SNV
Germline

Chr17:44351461

Likely pathogenic

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

Criteria Provided
Single Submitter

CA225297

rs_63750707

2 SubmittersRCV000084466 RCV000697778

NM_002087.4(GRN):c.970G>A (p.Ala324Thr)

SNV
Germline

Chr17:44351586

Conflicting classifications of pathogenicity

Condition: not provided
not specified
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA225301

rs_63750541

11 SubmittersRCV000084468 RCV001727569 RCV000706214 RCV002381407 RCV001128038 RCV004549523

NM_002087.4(GRN):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr17:44351625

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225308

rs_63751406

3 SubmittersRCV000084471 RCV005222751

NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)

SNV
Germline

Chr17:44352087

Pathogenic

Condition: not provided
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Amyotrophic lateral sclerosis type 10
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Criteria Provided
Multiple Submitters
No Conflicts

CA225327

rs_63751180

10 SubmittersRCV000084480 RCV001390599 RCV002463638 RCV000995559

NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)

SNV
Germline

Chr17:44352088

Conflicting classifications of pathogenicity

Condition: not provided
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA225330

rs_63751100

7 SubmittersRCV000084481 RCV000764131 RCV001122276 RCV001705812 RCV002514501

NM_002087.4(GRN):c.1341C>T (p.His447=)

SNV
Germline

Chr17:44352176

Conflicting classifications of pathogenicity

Condition: not provided
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA225339

rs_63750775

5 SubmittersRCV000084484 RCV001122277 RCV001086557 RCV002381408 RCV004549524

NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)

SNV
Germline

Chr8:1780498

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA267596

rs_587779411

7 SubmittersRCV000087102 RCV000988030 RCV005042202

NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)

SNV
Germline

Chr16:28477623

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA288720

rs_146610181

10 SubmittersRCV000116748 RCV000223968 RCV001081596 RCV000274494 RCV001116001 RCV002313869

NM_000391.4(TPP1):c.293C>T (p.Thr98Met)

SNV
Germline

Chr11:6617713

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231553

rs_140726254

11 SubmittersRCV000118653 RCV000186669 RCV000509378 RCV002313926

NM_001042432.2(CLN3):c.831G>A (p.Val277=)

SNV
Germline

Chr16:28482632

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA290108

rs_1142183

12 SubmittersRCV000124313 RCV000725520 RCV001117455 RCV002312824 RCV001083119

NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)

SNV
Germline

Chr16:28477603

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
Condition: not provided
CLN3-related disorder

Criteria Provided
Conflicting Classifications

CA232460

rs_201206239

11 SubmittersRCV000186618 RCV001084677 RCV001120931 RCV002362755 RCV000723896 RCV003905195

NM_001042432.2(CLN3):c.516C>T (p.Leu172=)

SNV
Germline

Chr16:28486595

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290126

rs_148846795

7 SubmittersRCV000124325 RCV000528208 RCV001119060 RCV001701675 RCV002336272

NM_006493.4(CLN5):c.-4C>T

SNV
Germline

Chr13:76992095

Conflicting classifications of pathogenicity

not specified
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290137

rs_587780896

7 SubmittersRCV000124330 RCV000360042 RCV000711258 RCV001081887 RCV001111457 RCV002316354

NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)

SNV
Germline

Chr13:77000471

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA302986

rs_138611001

16 SubmittersRCV000178274 RCV001082459 RCV000603044 RCV000675521 RCV002312551

NM_017882.3(CLN6):c.282C>A (p.Pro94=)

SNV
Germline

Chr15:68214305

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290141

rs_139261571

5 SubmittersRCV000124337 RCV000632748 RCV002316355

NM_017882.3(CLN6):c.339G>A (p.Thr113=)

SNV
Germline

Chr15:68211822

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290143

rs_146135801

6 SubmittersRCV000124339 RCV000465480 RCV002453447

NM_017882.3(CLN6):c.487-15C>T

SNV
Germline

Chr15:68211333

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA290145

rs_200775021

3 SubmittersRCV000124341 RCV001116617

NM_017882.3(CLN6):c.585C>T (p.Gly195=)

SNV
Germline

Chr15:68209717

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290146

rs_144507672

4 SubmittersRCV000124342 RCV000529403 RCV002354313

NM_017882.3(CLN6):c.822G>A (p.Ala274=)

SNV
Germline

Chr15:68208254

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290150

rs_151186473

6 SubmittersRCV000124344 RCV000533512 RCV003390812

NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)

SNV
Germline

Chr15:68229551

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Inborn genetic diseases
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Conflicting Classifications

CA302669

rs_112239768

16 SubmittersRCV000173024 RCV000675965 RCV000989355 RCV000677327 RCV002312552 RCV003224161

NM_001909.5(CTSD):c.912G>A (p.Pro304=)

SNV
Germline

Chr11:1754054

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 10
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
CTSD-related disorder

Criteria Provided
Conflicting Classifications

CA232472

rs_140238987

10 SubmittersRCV000186625 RCV000262670 RCV000724427 RCV001082524 RCV002312558 RCV003965044

NM_001909.5(CTSD):c.1071+7G>A

SNV
Germline

Chr11:1753796

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis
CTSD-related disorder

Criteria Provided
Conflicting Classifications

CA290528

rs_374010531

5 SubmittersRCV000124626 RCV001103554 RCV000475449 RCV003915248

NM_001909.5(CTSD):c.1071+12A>G

SNV
Germline

Chr11:1753791

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 10
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA290529

rs_113936232

6 SubmittersRCV000124627 RCV001103553 RCV001580047 RCV002055517

NM_001909.5(CTSD):c.228C>T (p.Asp76=)

SNV
Germline

Chr11:1761309

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA290537

rs_587780914

2 SubmittersRCV000124635 RCV001854685

NM_001909.5(CTSD):c.240C>T (p.Tyr80=)

SNV
Germline

Chr11:1759628

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 10
Inborn genetic diseases
CTSD-related disorder

Criteria Provided
Conflicting Classifications

CA290540

rs_147641822

5 SubmittersRCV000124638 RCV000463645 RCV001108794 RCV002316364 RCV003965045

NM_001909.5(CTSD):c.-24C>T

SNV
Germline

Chr11:1763883

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 10

Criteria Provided
Conflicting Classifications

CA290554

rs_587780917

2 SubmittersRCV000124648 RCV000264846

NM_001909.5(CTSD):c.639C>G (p.Pro213=)

SNV
Germline

Chr11:1757389

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 10
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290555

rs_146073498

8 SubmittersRCV000124649 RCV000625343 RCV000675953 RCV001084602 RCV002354314

NM_001909.5(CTSD):c.704+6C>T

SNV
Germline

Chr11:1757318

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA290557

rs_370847523

3 SubmittersRCV000124650 RCV001245840

NM_001909.5(CTSD):c.827+13T>C

SNV
Germline

Chr11:1754893

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA290558

rs_369602025

5 SubmittersRCV000124651 RCV000625069 RCV002055521

NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=)

SNV
Germline

Chr4:127921587

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 7
MFSD8-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292090

rs_138072045

5 SubmittersRCV000126764 RCV000864745 RCV003965055 RCV002381440

NM_001371596.2(MFSD8):c.1351-9C>A

SNV
Germline

Chr4:127920845

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 7
Retinal dystrophy
Late-infantile neuronal ceroid lipofuscinosis
MFSD8-related disorder

Criteria Provided
Conflicting Classifications

CA292094

rs_75039907

6 SubmittersRCV000126766 RCV000462645 RCV001074091 RCV001831924 RCV004757961

NM_001371596.2(MFSD8):c.153A>G (p.Val51=)

SNV
Germline

Chr4:127957502

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA292096

rs_587781037

2 SubmittersRCV000126768 RCV002514677

NM_000310.4(PPT1):c.*3C>A

SNV
Germline

Chr1:40074058

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292902

rs_150454815

7 SubmittersRCV000127587 RCV000582206 RCV000371863 RCV002312593

NM_000310.4(PPT1):c.234+6G>A

SNV
Germline

Chr1:40092392

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA292905

rs_587781122

3 SubmittersRCV000127590 RCV001242283

NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)

SNV
Germline

Chr4:127921956

Conflicting classifications of pathogenicity

Macular dystrophy with central cone involvement
Condition: not provided
Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Inborn genetic diseases
not specified
MFSD8-related disorder
Optic atrophy
Retinal dystrophy
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Conflicting Classifications

CA175005

rs_150418024

14 SubmittersRCV000149771 RCV000732335 RCV001080724 RCV001272733 RCV002316957 RCV002509247 RCV003917467 RCV004815213 RCV004815212 RCV005394508

NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)

SNV
Germline

Chr4:127921733

Pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Inborn genetic diseases
Condition: not provided
Late-infantile neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA175006

rs_724159970

10 SubmittersRCV000149773 RCV000149772 RCV002483295 RCV002453475 RCV000481423 RCV001276178

NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His)

SNV
Germline

Chr4:127921860

Pathogenic

Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA175008

rs_727502800

3 SubmittersRCV000149774 RCV000149775

NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)

SNV
Germline

Chr4:127920743

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA273061

rs_724159971

8 SubmittersRCV000149777 RCV000256110 RCV000763521 RCV002390318

NM_006493.4(CLN5):c.-146T>C

SNV
Germline

Chr13:76991953

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases
CLN5-related disorder

Criteria Provided
Conflicting Classifications

CA295605

rs_201615354

9 SubmittersRCV000989146 RCV000711260 RCV000778400 RCV002316962 RCV003398802

NM_000310.4(PPT1):c.541G>A (p.Val181Met)

SNV
Germline

Chr1:40080483

Pathogenic

Neuronal ceroid lipofuscinosis 1
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274047

rs_148412181

12 SubmittersRCV000169209 RCV001723740 RCV002259317 RCV002345567

NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)

SNV
Germline

Chr8:1780415

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA274121

rs_746645358

6 SubmittersRCV000169279 RCV000187126 RCV003532006

NM_000391.4(TPP1):c.1551+1G>A

SNV
Germline

Chr11:6614865

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274113

rs_786204553

5 SubmittersRCV000169269 RCV000524081

NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)

SNV
Germline

Chr11:6615217

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA274465

rs_786204753

5 SubmittersRCV000169608 RCV000189791 RCV002498846

NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)

SNV
Germline

Chr13:76995076

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA274758

rs_786205211

6 SubmittersRCV000170441 RCV001054069 RCV002321680

NM_017882.3(CLN6):c.53C>T (p.Ala18Val)

SNV
Germline

Chr15:68229532

Conflicting classifications of pathogenicity

not specified
Adult neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Condition: not provided
Neuronal ceroid lipofuscinosis
CLN6-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA238907

rs_547125345

7 SubmittersRCV000187111 RCV000515438 RCV000766779 RCV001085594 RCV003917602 RCV002313023

NM_000391.4(TPP1):c.1552-9C>T

SNV
Germline

Chr11:6614695

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240010

rs_369699167

5 SubmittersRCV001107389 RCV000724266

NM_001909.5(CTSD):c.75G>A (p.Pro25=)

SNV
Germline

Chr11:1761462

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
CTSD-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA241445

rs_140563067

5 SubmittersRCV000187304 RCV001078653 RCV003907574 RCV002390429

NM_018941.4(CLN8):c.200C>T (p.Ala67Val)

SNV
Germline

Chr8:1771254

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 1
not specified

Criteria Provided
Conflicting Classifications

CA241753

rs_373957283

8 SubmittersRCV000632691 RCV000724133 RCV001273351 RCV002317017 RCV001838985 RCV003224189 RCV004782284

NM_018941.4(CLN8):c.11C>T (p.Ala4Val)

SNV
Germline

Chr8:1771065

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA302819

rs_147181589

5 SubmittersRCV000175911 RCV000465790 RCV001704258 RCV004799187 RCV002314613

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

SNV
Germline

Chr7:66633320

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241849

rs_201296399

9 SubmittersRCV000624660 RCV000645671 RCV000712134 RCV005417991

NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)

SNV
Germline

Chr1:40092078

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Intellectual disability
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA243138

rs_142894102

13 SubmittersRCV000625813 RCV000724058 RCV001252359 RCV002516724 RCV003235097

NM_001909.5(CTSD):c.267C>G (p.Pro89=)

SNV
Germline

Chr11:1759601

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA243244

rs_139154882

4 SubmittersRCV000724386 RCV001448695 RCV002433772

NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)

SNV
Germline

Chr13:76995977

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA243394

rs_794727507

9 SubmittersRCV000724376 RCV001028014 RCV005089889 RCV004689657

NM_018941.4(CLN8):c.806A>T (p.Glu269Val)

SNV
Germline

Chr8:1780512

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8
Condition: not provided
Neuronal ceroid lipofuscinosis
See cases
Inborn genetic diseases
CLN8-related disorder

Criteria Provided
Conflicting Classifications

CA243465

rs_139003032

14 SubmittersRCV000187131 RCV000515342 RCV000670572 RCV000723601 RCV001084070 RCV002252020 RCV002408767 RCV004537428

NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)

SNV
Germline

Chr1:40091329

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuronal ceroid lipofuscinosis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245091

rs_369186379

6 SubmittersRCV000178074 RCV001420748 RCV001826905 RCV002317045

NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)

SNV
Germline

Chr1:40078564

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA247056

rs_746043871

6 SubmittersRCV000179745 RCV000670818

NM_001042432.2(CLN3):c.399T>C (p.Ile133=)

SNV
Germline

Chr16:28487517

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA247105

rs_775739498

2 SubmittersRCV000179806 RCV001502948

NM_001042432.2(CLN3):c.393T>C (p.Ser131=)

SNV
Germline

Chr16:28487523

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA247110

rs_794727850

2 SubmittersRCV000179807 RCV003647754

NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)

SNV
Germline

Chr15:68208153

Conflicting classifications of pathogenicity

not specified
Ceroid lipofuscinosis, neuronal, 6A
Adult neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Inborn genetic diseases
CLN6-related disorder

Criteria Provided
Conflicting Classifications

CA247303

rs_143578698

13 SubmittersRCV000187108 RCV000515242 RCV000724552 RCV001080133 RCV002054140 RCV002314666 RCV003398902

NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)

SNV
Germline

Chr4:127939961

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases
MFSD8-related disorder

Criteria Provided
Conflicting Classifications

CA203526

rs_28544073

8 SubmittersRCV000180004 RCV000461551 RCV001273684 RCV001721127 RCV002314668 RCV003947538

NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)

SNV
Germline

Chr11:6616374

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA247530

rs_765380155

9 SubmittersRCV000180153 RCV000625040

NM_000310.4(PPT1):c.904A>G (p.Ile302Val)

SNV
Germline

Chr1:40074078

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 1
Intellectual disability
not specified
Inborn genetic diseases
PPT1-related disorder

Criteria Provided
Conflicting Classifications

CA247958

rs_146902902

17 SubmittersRCV000435004 RCV000515384 RCV001252358 RCV001706153 RCV002317064 RCV003955098

NM_001371596.2(MFSD8):c.863+4A>G

SNV
Germline

Chr4:127932981

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA248270

rs_752035164

3 SubmittersRCV000180705 RCV002515300

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

SNV
Germline

Chr17:44350801

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275539

rs_63749817

8 SubmittersRCV000185615 RCV000513518 RCV000503399 RCV003765160

NM_000310.4(PPT1):c.*6G>A

SNV
Germline

Chr1:40074055

Conflicting classifications of pathogenicity

not specified
Condition: not provided
PPT1-related disorder
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA292903

rs_113082671

6 SubmittersRCV000127588 RCV000675767 RCV003955120 RCV001098457

NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)

SNV
Germline

Chr1:40089411

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA316940

rs_560471003

6 SubmittersRCV000188720 RCV000766627 RCV000661982 RCV002345676

NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)

SNV
Germline

Chr1:40091338

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA316930

rs_796052925

4 SubmittersRCV000188715 RCV000412210

NM_000310.4(PPT1):c.367G>A (p.Ala123Thr)

SNV
Germline

Chr1:40091395

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA316927

rs_755565099

4 SubmittersRCV000393506 RCV001169850

NM_000310.4(PPT1):c.362+5G>A

SNV
Germline

Chr1:40092040

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA316926

rs_796052924

6 SubmittersRCV000188713 RCV001090090

NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)

SNV
Germline

Chr1:40092097

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA316906

rs_386833641

3 SubmittersRCV000188701 RCV000641277 RCV003362718

NM_000310.4(PPT1):c.234+1G>A

SNV
Germline

Chr1:40092397

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA316925

rs_796052923

2 SubmittersRCV000188710 RCV001233540

NM_000310.4(PPT1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:40097237

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA316954

rs_796052927

3 SubmittersRCV000188725 RCV000410251

NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr)

SNV
Germline

Chr4:127939874

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315969

rs_200591471

4 SubmittersRCV000188172 RCV000765753 RCV000823577 RCV002311276

NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter)

SNV
Germline

Chr4:127939952

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA315960

rs_558274487

2 SubmittersRCV000188167 RCV002516999

NM_001371596.2(MFSD8):c.442A>G (p.Asn148Asp)

SNV
Germline

Chr4:127942156

Likely pathogenic

Condition: not provided
Late-infantile neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA315962

rs_796052742

2 SubmittersRCV000188168 RCV005614384

NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val)

SNV
Germline

Chr4:127943914

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA315943

rs_578102641

2 SubmittersRCV000188156 RCV001857624

NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)

SNV
Germline

Chr4:127943985

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases
MFSD8-related disorder

Criteria Provided
Conflicting Classifications

CA315948

rs_147750747

7 SubmittersRCV000725884 RCV001086515 RCV002317122 RCV004757975

NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)

SNV
Germline

Chr8:1771428

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314053

rs_142269885

16 SubmittersRCV000187142 RCV000656837 RCV000677331 RCV001080578 RCV003224205 RCV001251946 RCV002314707

NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)

SNV
Germline

Chr8:1771553

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA314014

rs_144495588

9 SubmittersRCV000187127 RCV000503130 RCV000665564 RCV002336495 RCV005042399

NM_018941.4(CLN8):c.522C>T (p.Cys174=)

SNV
Germline

Chr8:1771576

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Condition: not provided
Neuronal ceroid lipofuscinosis
CLN8-related disorder

Criteria Provided
Conflicting Classifications

CA314002

rs_148417620

5 SubmittersRCV000187122 RCV002336494 RCV000729236 RCV001079239 RCV004539736

NM_018941.4(CLN8):c.725C>T (p.Thr242Met)

SNV
Germline

Chr8:1780431

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
CLN8-related disorder

Criteria Provided
Conflicting Classifications

CA314017

rs_138821993

5 SubmittersRCV001704979 RCV000458992 RCV004537573

NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)

SNV
Germline

Chr8:1780482

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314061

rs_201956727

4 SubmittersRCV000187145 RCV000706746 RCV001833114 RCV002513993

NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)

SNV
Germline

Chr8:1780485

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314020

rs_146579299

12 SubmittersRCV000187129 RCV000768188 RCV001080174 RCV001272624 RCV002247602 RCV002408830

NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)

SNV
Germline

Chr11:1753540

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314334

rs_147553344

3 SubmittersRCV000187302 RCV000632742 RCV002345669

NM_001909.5(CTSD):c.926G>A (p.Arg309His)

SNV
Germline

Chr11:1754040

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 10

Criteria Provided
Conflicting Classifications

CA314362

rs_374540411

4 SubmittersRCV001711476 RCV002314714 RCV000864860 RCV003144152

NM_001909.5(CTSD):c.497C>T (p.Ala166Val)

SNV
Germline

Chr11:1757531

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA314318

rs_796052396

2 SubmittersRCV000187294 RCV002513998

NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)

SNV
Germline

Chr11:1759569

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314368

rs_796052407

4 SubmittersRCV000187320 RCV001207662 RCV002433840

NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)

SNV
Germline

Chr11:1759606

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA314342

rs_796052400

2 SubmittersRCV000187307 RCV002513999

NM_001909.5(CTSD):c.154G>A (p.Val52Ile)

SNV
Germline

Chr11:1761383

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314312

rs_143517230

4 SubmittersRCV000862792 RCV001721192 RCV001108795 RCV002314713

NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)

SNV
Germline

Chr11:1761437

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314338

rs_779278368

4 SubmittersRCV001085708 RCV000710114 RCV002317090

NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)

SNV
Germline

Chr11:6614638

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA319218

rs_1554901472

2 SubmittersRCV001385651 RCV001828011

NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)

SNV
Germline

Chr11:6614874

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA319216

rs_748345018

4 SubmittersRCV000189794 RCV002399705 RCV001274536

NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)

SNV
Germline

Chr11:6614891

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319214

rs_149529997

5 SubmittersRCV000189793 RCV000764996 RCV001274537 RCV002390502

NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)

SNV
Germline

Chr11:6615316

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA319206

rs_201034755

5 SubmittersRCV000189787 RCV000764997 RCV002381645 RCV001252368

NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)

SNV
Germline

Chr11:6616375

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA319198

rs_750428882

9 SubmittersRCV000189779 RCV001329231 RCV002317664 RCV003401035 RCV005049466

NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)

SNV
Germline

Chr11:6616714

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319191

rs_796053439

5 SubmittersRCV000189774 RCV000209853 RCV003235113

NM_000391.4(TPP1):c.827A>T (p.Asp276Val)

SNV
Germline

Chr11:6616720

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA319189

rs_763162812

8 SubmittersRCV000189773 RCV000666770 RCV002485283

NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)

SNV
Germline

Chr11:6616751

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA319225

rs_200138397

5 SubmittersRCV000384515 RCV000725967

NM_000391.4(TPP1):c.776G>A (p.Arg259His)

SNV
Germline

Chr11:6616771

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA319186

rs_140176031

5 SubmittersRCV000189771 RCV000764999 RCV002317662 RCV001274539

NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)

SNV
Germline

Chr11:6617024

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA319184

rs_773546205

5 SubmittersRCV000189770 RCV001274540 RCV001578829

NM_000391.4(TPP1):c.509-1G>A

SNV
Germline

Chr11:6617154

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA319175

rs_56144125

8 SubmittersRCV000189764 RCV000586250 RCV000673911 RCV002336504 RCV005049465

NM_000391.4(TPP1):c.425T>G (p.Val142Gly)

SNV
Germline

Chr11:6617384

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA319169

rs_775217501

3 SubmittersRCV000189761 RCV001833128

NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr11:6617627

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Angelman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA319165

rs_756564767

12 SubmittersRCV000189759 RCV000792396 RCV001004372 RCV000763269 RCV001804926

NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)

SNV
Germline

Chr11:6617687

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA319163

rs_201613668

4 SubmittersRCV000189758 RCV001274542 RCV000765000

NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)

SNV
Germline

Chr11:6617695

Pathogenic

Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319150

rs_202189057

7 SubmittersRCV000189751 RCV000210549 RCV000984312 RCV002492873 RCV004800327

NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)

SNV
Germline

Chr11:6617746

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319132

rs_148064565

6 SubmittersRCV000189741 RCV000766956 RCV001274545 RCV002314770

NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)

SNV
Germline

Chr11:6618776

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319162

rs_121908195

4 SubmittersRCV000189757 RCV000673684 RCV001731509

NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)

SNV
Germline

Chr11:6618808

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319158

rs_751088292

5 SubmittersRCV000189755 RCV001833127 RCV002415815

NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr11:6618809

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319156

rs_759080581

4 SubmittersRCV000189754 RCV000824347

NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)

SNV
Germline

Chr11:6618904

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA319148

rs_138448968

9 SubmittersRCV000189750 RCV000341505 RCV000765001 RCV002362994 RCV005406918

NM_000391.4(TPP1):c.89+5G>C

SNV
Germline

Chr11:6619191

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319224

rs_746085696

3 SubmittersRCV000189799 RCV003235114

NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)

SNV
Germline

Chr11:6619394

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319144

rs_142163063

7 SubmittersRCV000726300 RCV001274548 RCV003224212 RCV002314771

NC_000013.11:g.76991953T>A

SNV
Germline

Chr13:76991953

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA313888

rs_201615354

4 SubmittersRCV000187058 RCV000672217 RCV002054194

NC_000013.11:g.76991973G>C

SNV
Germline

Chr13:76991973

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313852

rs_762873839

6 SubmittersRCV000187045 RCV000814647 RCV001109123 RCV002513988

NM_006493.4(CLN5):c.-99G>C

SNV
Germline

Chr13:76992000

Conflicting classifications of pathogenicity

not specified
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA313855

rs_202118652

11 SubmittersRCV000187046 RCV000405110 RCV000514392 RCV002314700 RCV001083336 RCV001111453

NC_000013.11:g.76992067C>A

SNV
Germline

Chr13:76992067

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313900

rs_61504484

4 SubmittersRCV000187063 RCV001729446 RCV001852446 RCV002327011

NC_000013.11:g.76992067C>G

SNV
Germline

Chr13:76992067

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA313858

rs_61504484

3 SubmittersRCV000187047 RCV001058811 RCV001729445

NM_006493.4(CLN5):c.5C>T (p.Ala2Val)

SNV
Germline

Chr13:76992103

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA313861

rs_146993892

9 SubmittersRCV001082301 RCV001111458 RCV000395302 RCV002317080 RCV000726511 RCV001727624

NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)

SNV
Germline

Chr13:76992159

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313909

rs_376454715

8 SubmittersRCV000187066 RCV000306509 RCV000553078 RCV001111459 RCV003298245

NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)

SNV
Germline

Chr13:76992174

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
CLN5-related disorder

Criteria Provided
Conflicting Classifications

CA313867

rs_199727787

15 SubmittersRCV000187050 RCV000711259 RCV000755716 RCV000989148 RCV002314701 RCV003977493

NM_006493.4(CLN5):c.106G>C (p.Ala36Pro)

SNV
Germline

Chr13:76992204

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA313912

rs_778982551

6 SubmittersRCV000473058 RCV001336971 RCV002311261 RCV000726582

NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)

SNV
Germline

Chr13:76996010

Pathogenic

Neuronal ceroid lipofuscinosis 5
Condition: not provided
Neuronal ceroid lipofuscinosis
CLN5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA313918

rs_546989392

17 SubmittersRCV000613275 RCV000187069 RCV000556663 RCV003927734

NM_006493.4(CLN5):c.487G>A (p.Ala163Thr)

SNV
Germline

Chr13:76996049

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA313897

rs_148544801

4 SubmittersRCV000187061 RCV001239747 RCV001272146

NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)

SNV
Germline

Chr13:77000461

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313927

rs_369100769

6 SubmittersRCV000187073 RCV000473641 RCV001275304 RCV004609320

NM_017882.3(CLN6):c.799G>A (p.Ala267Thr)

SNV
Germline

Chr15:68208277

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313946

rs_374613712

3 SubmittersRCV001704977 RCV002513989 RCV002415804

NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)

SNV
Germline

Chr15:68208309

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA313981

rs_143781303

2 SubmittersRCV000187106 RCV001037728

NM_017882.3(CLN6):c.755G>A (p.Arg252His)

SNV
Germline

Chr15:68208321

Conflicting classifications of pathogenicity

Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313980

rs_374681194

5 SubmittersRCV000187105 RCV000671648 RCV001083020 RCV002390489

NM_017882.3(CLN6):c.665+1G>A

SNV
Germline

Chr15:68209636

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA313971

rs_796052356

3 SubmittersRCV000187100 RCV001379342

NM_017882.3(CLN6):c.297+1G>A

SNV
Germline

Chr15:68214289

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA313959

rs_796052351

2 SubmittersRCV000187092 RCV002513990

NM_017882.3(CLN6):c.278C>T (p.Thr93Met)

SNV
Germline

Chr15:68214309

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA313990

rs_150001589

4 SubmittersRCV000187115 RCV000803649 RCV001804924

NM_017882.3(CLN6):c.270C>T (p.Asn90=)

SNV
Germline

Chr15:68214317

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313943

rs_145247814

5 SubmittersRCV000187081 RCV001085180 RCV000725138 RCV002311262

NM_017882.3(CLN6):c.116G>A (p.Arg39His)

SNV
Germline

Chr15:68218618

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA313941

rs_779456928

2 SubmittersRCV000187080 RCV000456247

NM_017882.3(CLN6):c.66C>T (p.Ala22=)

SNV
Germline

Chr15:68229519

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA313951

rs_796052349

3 SubmittersRCV000187088 RCV001119610

NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)

SNV
Germline

Chr15:68229536

Conflicting classifications of pathogenicity

Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313987

rs_763944821

7 SubmittersRCV000187110 RCV000664742 RCV001085897 RCV002228805 RCV002317081

NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)

SNV
Germline

Chr15:68229580

Conflicting classifications of pathogenicity

Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Inborn genetic diseases
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA313985

rs_3743088

9 SubmittersRCV000187109 RCV000664477 RCV001082320 RCV001731421 RCV002311263 RCV005003538

NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)

SNV
Germline

Chr16:28477577

Conflicting classifications of pathogenicity

early onset and severe retinal dystrophy
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA313757

rs_796052338

6 SubmittersRCV001270478 RCV000673887 RCV001211899 RCV004586610

NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)

SNV
Germline

Chr16:28482173

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA313722

rs_386833744

8 SubmittersRCV000187016 RCV000504655 RCV000812919 RCV001729444 RCV004975317 RCV004816316

NM_001042432.2(CLN3):c.962+3A>T

SNV
Germline

Chr16:28482324

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA313716

rs_796052336

3 SubmittersRCV000187014 RCV001038302 RCV001729443

NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)

SNV
Germline

Chr16:28482340

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA313711

rs_796052335

5 SubmittersRCV000187013 RCV002516983 RCV001729442

NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)

SNV
Germline

Chr16:28482515

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA313680

rs_369008702

5 SubmittersRCV000187004 RCV000696008 RCV001785494

NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)

SNV
Germline

Chr16:28487498

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA313703

rs_373034150

7 SubmittersRCV000345320 RCV000432571 RCV001218859 RCV001119063 RCV002314697 RCV005406914

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

SNV
Germline

Chr16:28488643

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA313772

rs_137906617

14 SubmittersRCV000725785 RCV000791120 RCV000300798 RCV001121029 RCV001086732 RCV002317078

NM_001042432.2(CLN3):c.-41C>A

SNV
Germline

Chr16:28491800

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA313678

rs_370217726

2 SubmittersRCV000187002 RCV001116116

NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)

SNV
Germline

Chr20:63929357

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA314375

rs_151265913

4 SubmittersRCV000187324 RCV000725992 RCV001139072 RCV001079096

NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val)

SNV
Germline

Chr20:63930948

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA314387

rs_144915847

3 SubmittersRCV000187331 RCV001504434 RCV003317140

NM_003793.4(CTSF):c.213+1G>C

SNV
Germline

Chr11:66568273

Pathogenic

Neuronal ceroid lipofuscinosis 13

No Assertion Criteria Provided

CA204952

rs_797045136

1 SubmittersRCV000190878

NM_001909.5(CTSD):c.446G>T (p.Gly149Val)

SNV
Germline

Chr11:1758994

Likely pathogenic

Neuronal ceroid lipofuscinosis 10
Condition: not provided

Criteria Provided
Single Submitter

CA276036

rs_797045137

2 SubmittersRCV000190882 RCV004700577

NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)

SNV
Germline

Chr4:127930746

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA207954

rs_556875684

5 SubmittersRCV000194054 RCV000662085 RCV002517099 RCV005406921

NM_018941.4(CLN8):c.470A>G (p.His157Arg)

SNV
Germline

Chr8:1771524

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277008

rs_149308952

6 SubmittersRCV000192707 RCV002307439 RCV001580081

NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)

SNV
Germline

Chr8:1771262

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA056214

rs_765097897

2 SubmittersRCV000988028

NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)

SNV
Germline

Chr11:6615220

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA277862

rs_864309505

2 SubmittersRCV000202601

NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)

SNV
Unknown

Chr11:6617353

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA351534

rs_869025274

1 SubmittersRCV000207147

NM_006493.4(CLN5):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr13:76996109

Pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA353480

rs_869312751

3 SubmittersRCV000210062 RCV002282043

NM_000310.4(PPT1):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:40097238

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339850881

rs_1085307087

1 SubmittersRCV000490479

NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)

SNV
Germline

Chr1:40078573

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA10581621

rs_878853322

7 SubmittersRCV000225555 RCV004594031

NM_000310.4(PPT1):c.707T>A (p.Val236Glu)

SNV
Germline

Chr1:40078579

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10581622

rs_878853324

4 SubmittersRCV000225429 RCV004701300 RCV005222846

NM_000310.4(PPT1):c.798+1G>T

SNV
Germline

Chr1:40076841

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10581791

rs_878853929

3 SubmittersRCV000228420

NM_018941.4(CLN8):c.788G>A (p.Trp263Ter)

SNV
Germline

Chr8:1780494

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA10582576

rs_878855053

1 SubmittersRCV000230938

NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)

SNV
Germline

Chr11:6617338

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10583994

rs_553522118

3 SubmittersRCV000234824 RCV003137850

NM_018941.4(CLN8):c.207G>A (p.Thr69=)

SNV
Germline

Chr8:1771261

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA4599226

rs_368365607

7 SubmittersRCV000251360 RCV000726178 RCV001082817 RCV002418085 RCV001828146

NM_003793.4(CTSF):c.1046-2A>C

SNV
Germline

Chr11:66565008

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 13
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6125323

rs_141915593

6 SubmittersRCV000255055 RCV001063136 RCV004701360 RCV002401968

NM_000391.4(TPP1):c.509-1G>T

SNV
Germline

Chr11:6617154

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10603269

rs_56144125

4 SubmittersRCV000391641 RCV000666428

NM_018941.4(CLN8):c.648C>T (p.Phe216=)

SNV
Germline

Chr8:1780354

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599328

rs_564074916

5 SubmittersRCV000331844 RCV000725017 RCV001085032 RCV002365298

NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)

SNV
Germline

Chr11:1753865

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5813950

rs_147800688

6 SubmittersRCV000308097 RCV001084655 RCV000725129 RCV002429217

NM_017882.3(CLN6):c.58C>T (p.Leu20=)

SNV
Germline

Chr15:68229527

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA10604365

rs_886042533

2 SubmittersRCV000370051 RCV001452369

NM_018941.4(CLN8):c.256C>T (p.Leu86=)

SNV
Germline

Chr8:1771310

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA4599232

rs_755248868

4 SubmittersRCV000390779 RCV001086060

NM_018941.4(CLN8):c.838C>T (p.Leu280=)

SNV
Germline

Chr8:1780544

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA10605059

rs_886043061

2 SubmittersRCV000339809 RCV001479855

NM_025219.3(DNAJC5):c.339C>T (p.Cys113=)

SNV
Germline

Chr20:63930868

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA10605347

rs_886043295

2 SubmittersRCV000322144 RCV001082002

NM_001909.5(CTSD):c.972+10G>A

SNV
Germline

Chr11:1753984

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis
CTSD-related disorder

Criteria Provided
Conflicting Classifications

CA5813980

rs_531682785

4 SubmittersRCV000389907 RCV000725998 RCV001434058 RCV003940033

NM_001042432.2(CLN3):c.1198-5C>T

SNV
Germline

Chr16:28477640

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
CLN3-related disorder

Criteria Provided
Conflicting Classifications

CA7980646

rs_764999720

3 SubmittersRCV000407198 RCV001083253 RCV003977791

NM_001042432.2(CLN3):c.537C>G (p.Ala179=)

SNV
Germline

Chr16:28486487

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA10606047

rs_147667964

6 SubmittersRCV000364835 RCV001271267 RCV001729509

NM_006493.4(CLN5):c.342A>G (p.Lys114=)

SNV
Germline

Chr13:76995904

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA7007192

rs_770149235

3 SubmittersRCV000354768 RCV001464349 RCV001729510

NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)

SNV
Germline

Chr20:63928420

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA9969630

rs_189308547

4 SubmittersRCV000277916 RCV002317824 RCV000726583 RCV001084367

NM_000310.4(PPT1):c.537-12T>C

SNV
Germline

Chr1:40080499

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA10609893

rs_1057515556

2 SubmittersRCV000393477

NM_000310.4(PPT1):c.234+8G>A

SNV
Germline

Chr1:40092390

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA789776

rs_746750426

2 SubmittersRCV000366941

NM_000310.4(PPT1):c.705T>C (p.Ile235=)

SNV
Germline

Chr1:40078581

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA10610994

rs_1057515448

2 SubmittersRCV000291494

NM_001371596.2(MFSD8):c.421T>C (p.Leu141=)

SNV
Germline

Chr4:127943770

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA3077483

rs_778330834

2 SubmittersRCV000321495

NM_001909.5(CTSD):c.973-8C>A

SNV
Germline

Chr11:1753909

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA10630499

rs_886048064

2 SubmittersRCV000360520 RCV001850607

NM_001909.5(CTSD):c.-37G>A

SNV
Germline

Chr11:1763896

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10
not specified

Criteria Provided
Conflicting Classifications

CA5814335

rs_756112449

2 SubmittersRCV000303572 RCV000443172

NM_001909.5(CTSD):c.111G>C (p.Ser37=)

SNV
Germline

Chr11:1761426

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 10

Criteria Provided
Conflicting Classifications

CA5814290

rs_535140505

2 SubmittersRCV003765791 RCV000404301

NM_006493.4(CLN5):c.*180C>T

SNV
Germline

Chr13:77001149

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634506

rs_700364

2 SubmittersRCV000286703 RCV001109220 RCV001576894

NM_000391.4(TPP1):c.1653C>G (p.Pro551=)

SNV
Germline

Chr11:6614585

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
not specified
Condition: not provided
TPP1-related disorder

Criteria Provided
Conflicting Classifications

CA5858594

rs_372564255

6 SubmittersRCV000365676 RCV000444737 RCV000726663 RCV004554762

NM_000391.4(TPP1):c.1116C>T (p.His372=)

SNV
Germline

Chr11:6616034

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635359

rs_751321300

2 SubmittersRCV000354560 RCV002056219

NM_017882.3(CLN6):c.487-12T>A

SNV
Germline

Chr15:68211330

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA7630571

rs_571940397

3 SubmittersRCV000304343 RCV000440941

NM_001042432.2(CLN3):c.*99C>T

SNV
Germline

Chr16:28477417

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10637481

rs_113845299

2 SubmittersRCV000310613 RCV001120926 RCV001545836

NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)

SNV
Germline

Chr16:28477624

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA7980643

rs_377369610

3 SubmittersRCV000330765 RCV000544564 RCV001707651 RCV001116002

NM_001042432.2(CLN3):c.837+5G>A

SNV
Germline

Chr16:28482621

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7980808

rs_756848924

8 SubmittersRCV000286126 RCV001052203 RCV000504683 RCV000672125 RCV003278764

NM_001042432.2(CLN3):c.327C>T (p.Leu109=)

SNV
Germline

Chr16:28487709

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA7980971

rs_748293490

2 SubmittersRCV000315181 RCV000632735 RCV001121025

NM_001909.5(CTSD):c.90G>A (p.Thr30=)

SNV
Germline

Chr11:1761447

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5814296

rs_368529527

5 SubmittersRCV000304091 RCV000632764 RCV002314044 RCV001711904

NM_000391.4(TPP1):c.886+7C>T

SNV
Germline

Chr11:6616654

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639086

rs_886048543

2 SubmittersRCV000289036 RCV001476514

NM_006493.4(CLN5):c.566-7A>G

SNV
Germline

Chr13:77000451

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA7007230

rs_772501269

4 SubmittersRCV000277190 RCV001113464 RCV000981024 RCV000431986

NM_006493.4(CLN5):c.642A>T (p.Val214=)

SNV
Germline

Chr13:77000534

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7007238

rs_751496223

7 SubmittersRCV000332312 RCV000632739 RCV001114857 RCV000440562 RCV002418163

NM_000391.4(TPP1):c.1281G>A (p.Thr427=)

SNV
Germline

Chr11:6615315

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858679

rs_577520250

4 SubmittersRCV000357888 RCV000867657

NM_017882.3(CLN6):c.213C>G (p.Leu71=)

SNV
Germline

Chr15:68214374

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630663

rs_146980624

3 SubmittersRCV000424102 RCV000867995

NM_001042432.2(CLN3):c.1057-14C>A

SNV
Germline

Chr16:28477891

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7980695

rs_773692029

2 SubmittersRCV000263814 RCV001116006 RCV002522839

NM_001042432.2(CLN3):c.677+8G>A

SNV
Germline

Chr16:28486339

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7980867

rs_368568189

8 SubmittersRCV000284676 RCV000424611 RCV000866200 RCV001119057 RCV001579402

NM_001042432.2(CLN3):c.-129G>C

SNV
Germline

Chr16:28492072

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Neuronal ceroid lipofuscinosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10643345

rs_141305257

2 SubmittersRCV000323062 RCV001117548 RCV001551586

NM_001042432.1(CLN3):c.-264C>G

SNV
Germline

Chr16:28492207

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
Condition: not provided
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA10643350

rs_187163584

2 SubmittersRCV000264464 RCV001571799 RCV001117551

NM_025219.3(DNAJC5):c.438G>A (p.Thr146=)

SNV
Germline

Chr20:63930967

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal Ceroid-Lipofuscinosis, Recessive
Inborn genetic diseases
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Criteria Provided
Conflicting Classifications

CA9969747

rs_746222594

3 SubmittersRCV000921975 RCV000385002 RCV002328865 RCV001139076

NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)

SNV
Germline

Chr20:63930973

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Recessive
Condition: not provided
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Criteria Provided
Conflicting Classifications

CA9969748

rs_772254851

4 SubmittersRCV000290863 RCV000726834 RCV001088544 RCV001139077

NM_025219.3(DNAJC5):c.504C>T (p.Asp168=)

SNV
Germline

Chr20:63931475

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Recessive
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10644394

rs_886056935

3 SubmittersRCV000331893 RCV001488005 RCV001139078 RCV002338941

NM_006493.4(CLN5):c.*310T>C

SNV
Germline

Chr13:77001279

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive

Criteria Provided
Conflicting Classifications

CA10644802

rs_553934239

1 SubmittersRCV001111551 RCV000403374

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

SNV
Germline

Chr17:44350271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8601872

rs_149180605

2 SubmittersRCV000349606 RCV002056604

NM_017882.3(CLN6):c.298-15C>T

SNV
Germline

Chr15:68211878

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
not specified
CLN6-related disorder

Criteria Provided
Conflicting Classifications

CA7630631

rs_368661456

4 SubmittersRCV000321713 RCV000428295 RCV003920331

NM_002087.4(GRN):c.1641C>T (p.Arg547=)

SNV
Germline

Chr17:44352568

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
not specified
Inborn genetic diseases
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11

Criteria Provided
Conflicting Classifications

CA8602254

rs_149658268

4 SubmittersRCV000267441 RCV001660668 RCV002402044 RCV003765880

NM_002087.4(GRN):c.1647C>T (p.Gly549=)

SNV
Germline

Chr17:44352663

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8602270

rs_745391227

2 SubmittersRCV000317858 RCV002522981

NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg)

SNV
Germline

Chr20:63929326

Conflicting classifications of pathogenicity

Neuronal Ceroid-Lipofuscinosis, Recessive
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA9969653

rs_528096976

2 SubmittersRCV000320350 RCV001136833 RCV002523173

NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)

SNV
Germline

Chr1:40089417

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA16040728

rs_386833650

2 SubmittersRCV000409681

NM_000310.4(PPT1):c.362+1G>A

SNV
Germline

Chr1:40092044

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16040729

rs_1057517401

3 SubmittersRCV000410545

NM_000310.4(PPT1):c.327C>A (p.Tyr109Ter)

SNV
Unknown

Chr1:40092080

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA16040730

rs_1057516447

1 SubmittersRCV000409057

NM_000310.4(PPT1):c.124+2T>A

SNV
Unknown

Chr1:40097113

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA16040733

rs_1057517368

1 SubmittersRCV000410017

NM_000310.4(PPT1):c.8C>A (p.Ser3Ter)

SNV
Unknown

Chr1:40097231

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA16040735

rs_747204624

1 SubmittersRCV000410504

NM_018941.4(CLN8):c.543+1G>T

SNV
Germline

Chr8:1771598

Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA4599282

rs_756267448

2 SubmittersRCV000410670 RCV001850955

NM_000391.4(TPP1):c.1552-1G>A

SNV
Unknown

Chr11:6614687

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA16041509

rs_1057516511

1 SubmittersRCV000409021

NM_000391.4(TPP1):c.1551+1G>C

SNV
Germline

Chr11:6614865

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA16041510

rs_786204553

4 SubmittersRCV000411444 RCV001038809 RCV005049534

NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)

SNV
Germline

Chr11:6615449

Pathogenic

Neuronal ceroid lipofuscinosis 2
Abnormality of the nervous system
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041512

rs_1057516319

4 SubmittersRCV000411513 RCV001814153 RCV005049533 RCV005415567

NM_000391.4(TPP1):c.1145+1G>A

SNV
Germline

Chr11:6616004

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA16041513

rs_113019349

2 SubmittersRCV000411197 RCV001378362

NM_000391.4(TPP1):c.687+2T>G

SNV
Germline

Chr11:6616973

Pathogenic

Neuronal ceroid lipofuscinosis 2
Abnormality of the nervous system

Criteria Provided
Single Submitter

CA16041515

rs_1057516945

2 SubmittersRCV000411672 RCV001836808

NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr11:6617022

Pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA5858889

rs_752164603

3 SubmittersRCV000411357 RCV003114527

NM_000391.4(TPP1):c.230-1G>C

SNV
Unknown

Chr11:6617777

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA16041517

rs_1057516667

1 SubmittersRCV000410411

NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)

SNV
Germline

Chr13:77000685

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16041688

rs_764495616

3 SubmittersRCV000412162 RCV001850973

NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)

SNV
Germline

Chr13:77000850

Pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16041689

rs_750935331

3 SubmittersRCV000411598 RCV003766127

NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)

SNV
Germline

Chr16:28477875

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16041784

rs_1057516677

4 SubmittersRCV000410540 RCV000989587

NM_001042432.2(CLN3):c.963-1G>A

SNV
Germline

Chr16:28482199

Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16041785

rs_386833742

3 SubmittersRCV000410762 RCV001861373

NM_001042432.2(CLN3):c.962+1G>A

SNV
Unknown

Chr16:28482326

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA16041786

rs_1057516267

1 SubmittersRCV000409352

NM_001042432.2(CLN3):c.906+2T>A

SNV
Germline

Chr16:28482475

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7980777

rs_771788391

4 SubmittersRCV000726946 RCV000410383 RCV002523852

NM_001042432.2(CLN3):c.791-1G>A

SNV
Unknown

Chr16:28482673

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA16041787

rs_1057517350

1 SubmittersRCV000412040

NM_001042432.2(CLN3):c.677+1G>T

SNV
Unknown

Chr16:28486346

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA16041789

rs_1057517287

2 SubmittersRCV000410679

NM_001042432.2(CLN3):c.46+1G>A

SNV
Germline

Chr16:28491713

Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16041791

rs_1057516343

3 SubmittersRCV000409491 RCV001379345

NM_001042432.2(CLN3):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:28491758

Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Condition: not provided

Criteria Provided
Single Submitter

CA7981127

rs_777625354

2 SubmittersRCV000409421 RCV003333982

NM_001371596.2(MFSD8):c.1351-2A>G

SNV
Germline

Chr4:127920838

Likely pathogenic

Condition: not provided
Late-infantile neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA16042547

rs_1057518388

2 SubmittersRCV000413554 RCV001833502

NM_006493.4(CLN5):c.424G>C (p.Gly142Arg)

SNV
Germline

Chr13:76995986

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA7007202

rs_201464545

6 SubmittersRCV000414655 RCV000686723 RCV001275303

NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)

SNV
Germline

Chr15:68208178

Conflicting classifications of pathogenicity

Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630447

rs_750937323

5 SubmittersRCV000416280 RCV000675067 RCV002248651 RCV005238972 RCV001865306

NM_000310.4(PPT1):c.740A>G (p.Tyr247Cys)

SNV
Germline

Chr1:40076900

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA789571

rs_764051026

2 SubmittersRCV000420750 RCV001341505

NM_000310.4(PPT1):c.363-5C>T

SNV
Germline

Chr1:40091404

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA789725

rs_112553480

3 SubmittersRCV000863869 RCV001720069 RCV002450977

NM_001371596.2(MFSD8):c.999G>A (p.Lys333=)

SNV
Germline

Chr4:127921963

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA16605069

rs_1057520312

2 SubmittersRCV000418664 RCV003223403

NM_000391.4(TPP1):c.887-18A>G

SNV
Germline

Chr11:6616521

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA16606000

rs_935526225

3 SubmittersRCV000428562 RCV000984313

NM_018941.4(CLN8):c.513C>G (p.Pro171=)

SNV
Germline

Chr8:1771567

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided
CLN8-related disorder

Criteria Provided
Conflicting Classifications

CA4599279

rs_376910635

6 SubmittersRCV001081197 RCV002339051 RCV000726643 RCV004539856

NM_001909.5(CTSD):c.828-5C>T

SNV
Germline

Chr11:1754143

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
CTSD-related disorder

Criteria Provided
Conflicting Classifications

CA5814007

rs_762444592

4 SubmittersRCV000441533 RCV002062325 RCV002318407 RCV003970137

NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)

SNV
Germline

Chr11:6616332

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA5858785

rs_145966505

5 SubmittersRCV000437106 RCV001375972 RCV002313067 RCV005049548

NM_001909.5(CTSD):c.69-17C>A

SNV
Germline

Chr11:1761485

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA5814306

rs_371858126

2 SubmittersRCV000431899 RCV001861492

NM_001042432.2(CLN3):c.125+3G>A

SNV
Germline

Chr16:28491479

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA7981071

rs_775577824

5 SubmittersRCV000675978 RCV000428334 RCV000632694 RCV001729593

NM_001042432.2(CLN3):c.47-11C>A

SNV
Germline

Chr16:28491571

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7981092

rs_561083322

2 SubmittersRCV001698169 RCV002521739

NM_017882.3(CLN6):c.407G>A (p.Arg136His)

SNV
Germline

Chr15:68211754

Conflicting classifications of pathogenicity

Abnormal brain morphology
Neuronal ceroid lipofuscinosis
not specified
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630612

rs_769701646

5 SubmittersRCV000454168 RCV001379796 RCV000499595 RCV003224283

NM_000310.4(PPT1):c.234+7C>T

SNV
Germline

Chr1:40092391

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA789777

rs_200777536

3 SubmittersRCV000461907

NM_000310.4(PPT1):c.810G>C (p.Gly270=)

SNV
Germline

Chr1:40074172

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA789551

rs_371213189

2 SubmittersRCV000733525 RCV001084729

NM_001909.5(CTSD):c.511G>A (p.Gly171Ser)

SNV
Germline

Chr11:1757517

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5814148

rs_775460488

2 SubmittersRCV000476391 RCV005318398

NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)

SNV
Germline

Chr4:127920826

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3077232

rs_559155109

13 SubmittersRCV000480079 RCV000505174 RCV000505013 RCV000504782 RCV000805545 RCV001542748 RCV002313243 RCV001805096 RCV005027540 RCV005418155

NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)

SNV
Germline

Chr8:1780502

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599354

rs_766292710

4 SubmittersRCV000479521 RCV001273356 RCV001851272 RCV003278837

NM_017882.3(CLN6):c.84-1G>A

SNV
Germline

Chr15:68218651

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA16620001

rs_1064796787

3 SubmittersRCV000484435 RCV002525960 RCV005004187

NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)

SNV
Germline

Chr16:28477620

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Retinal dystrophy
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7980640

rs_139842473

17 SubmittersRCV000487188 RCV000504756 RCV000559381 RCV001075708 RCV001253588

NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)

SNV
Germline

Chr16:28484012

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Juvenile neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16620176

rs_1064794233

5 SubmittersRCV000480738 RCV001729612 RCV003532139 RCV005614409

NM_001042432.2(CLN3):c.461-3C>G

SNV
Germline

Chr16:28486653

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16620180

rs_181995380

4 SubmittersRCV000483799 RCV001060717 RCV001729613

NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)

SNV
Germline

Chr16:28488647

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases
CLN3-related disorder

Criteria Provided
Conflicting Classifications

CA7981009

rs_150348015

6 SubmittersRCV000632734 RCV001721545 RCV001729611 RCV002455909 RCV003902720

NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)

SNV
Germline

Chr11:66566329

Conflicting classifications of pathogenicity

Condition: not provided
CTSF-related disorder
Neuronal ceroid lipofuscinosis 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6125485

rs_148611356

7 SubmittersRCV000487825 RCV003932784 RCV001085523 RCV002318587

NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)

SNV
Germline

Chr11:6615257

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA217321529

rs_1035033641

3 SubmittersRCV000489192 RCV001829405

NM_000391.4(TPP1):c.1146-1G>A

SNV
Germline

Chr11:6615563

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA379473210

rs_1131691676

3 SubmittersRCV001829413 RCV000494500 RCV003403142

NM_000391.4(TPP1):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr11:6616760

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA379475071

rs_1131691539

3 SubmittersRCV000494434 RCV004800428

NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)

SNV
Germline

Chr4:127943775

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA3077486

rs_749704755

5 SubmittersRCV000496155 RCV005027573 RCV002222533

NM_017882.3(CLN6):c.722T>C (p.Met241Thr)

SNV
Germline

Chr15:68208354

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA392972143

rs_1555438255

2 SubmittersRCV000498748 RCV001203261

NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu)

SNV
Germline

Chr20:63931495

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9969802

rs_761982169

4 SubmittersRCV000498553 RCV001049122 RCV004796208 RCV004023327

NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)

SNV
Germline

Chr16:28486348

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA395345175

rs_1555468695

3 SubmittersRCV000513241 RCV001199670 RCV001857319

NM_000391.4(TPP1):c.83G>A (p.Arg28Gln)

SNV
Germline

Chr11:6619202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5859069

rs_369126677

5 SubmittersRCV000516351 RCV001298569 RCV001274547 RCV002316473

NM_002087.4(GRN):c.6G>A (p.Trp2Ter)

SNV
Germline

Chr17:44349170

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399758984

rs_1555610855

2 SubmittersRCV000516487 RCV005222987

NM_002087.4(GRN):c.599-1G>A

SNV
Germline

Chr17:44350690

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399764061

rs_1555611154

2 SubmittersRCV000516967 RCV003766924

NM_002087.4(GRN):c.898C>T (p.Gln300Ter)

SNV
Germline

Chr17:44351425

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399764943

rs_1555611253

6 SubmittersRCV000517994 RCV001218285 RCV003234777

NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr17:44351688

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399765702

rs_1555611293

4 SubmittersRCV000517776 RCV004553130 RCV002527479

NM_002087.4(GRN):c.1414-2A>G

SNV
Germline

Chr17:44352339

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399769494

rs_1555611412

2 SubmittersRCV000516768 RCV000650260

NM_002087.4(GRN):c.1742A>T (p.Asp581Val)

SNV
Germline

Chr17:44352758

Conflicting classifications of pathogenicity

not specified
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA8602290

rs_768223928

4 SubmittersRCV000518609 RCV001404573 RCV002314901 RCV004553131

NM_001909.5(CTSD):c.924G>A (p.Val308=)

SNV
Germline

Chr11:1754042

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA472140894

rs_1554962286

2 SubmittersRCV000521730 RCV002060283

NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)

SNV
Germline

Chr13:76992182

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7007121

rs_200348035

4 SubmittersRCV000521345 RCV000984156 RCV001858008

NM_000310.4(PPT1):c.627+1G>T

SNV
Germline

Chr1:40080396

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339847537

rs_1265044710

3 SubmittersRCV000544945

NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=)

SNV
Germline

Chr4:127920717

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA441209228

rs_1477527807

2 SubmittersRCV001145207

NM_001371596.2(MFSD8):c.440-2A>T

SNV
Germline

Chr4:127942160

Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA3077461

rs_751696703

2 SubmittersRCV000533734 RCV004800454

NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)

SNV
Germline

Chr15:68211716

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630608

rs_747229909

3 SubmittersRCV000551912 RCV005004218

NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)

SNV
Germline

Chr15:68229572

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
not specified

Criteria Provided
Conflicting Classifications

CA272398366

rs_886285802

6 SubmittersRCV000534403 RCV000675966 RCV000665418 RCV003330752

NM_017882.3(CLN6):c.271G>A (p.Val91Ile)

SNV
Germline

Chr15:68214316

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7630651

rs_140519790

4 SubmittersRCV000541719 RCV000711262 RCV002431546

NM_001042432.2(CLN3):c.222T>C (p.His74=)

SNV
Germline

Chr16:28489290

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7981024

rs_201225986

8 SubmittersRCV000536369 RCV001116111 RCV001579990 RCV001702672

NM_018941.4(CLN8):c.1A>G (p.Met1Val)

SNV
Germline

Chr8:1771055

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4599166

rs_143730802

3 SubmittersRCV000677235 RCV001229215 RCV005409678

NM_000391.4(TPP1):c.381-2A>G

SNV
Germline

Chr11:6617430

Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379476090

rs_1554902052

3 SubmittersRCV000589489 RCV000670849 RCV001860125

NM_001371596.2(MFSD8):c.357C>T (p.Cys119=)

SNV
Germline

Chr4:127943834

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA441215856

rs_1553950874

2 SubmittersRCV000596886 RCV002062007

NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)

SNV
Germline

Chr15:68211854

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630628

rs_201095412

6 SubmittersRCV000595470 RCV001051368 RCV000678437 RCV005004259

NM_001909.5(CTSD):c.704+7G>A

SNV
Germline

Chr11:1757317

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA5814109

rs_748547852

2 SubmittersRCV000591071 RCV002062024

NM_018941.4(CLN8):c.510G>A (p.Thr170=)

SNV
Germline

Chr8:1771564

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599277

rs_759153401

4 SubmittersRCV000591388 RCV001088085 RCV001829650 RCV002341522

NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)

SNV
Germline

Chr8:1771205

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA4599214

rs_777453297

2 SubmittersRCV000596520 RCV002531040

NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)

SNV
Germline

Chr4:127930706

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA3077328

rs_570989221

3 SubmittersRCV000591840 RCV001078494 RCV001835869

NM_001909.5(CTSD):c.63C>T (p.Leu21=)

SNV
Germline

Chr11:1763797

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA216183625

rs_1021613206

3 SubmittersRCV000596155 RCV001480819 RCV002368027

NM_017882.3(CLN6):c.36G>A (p.Ala12=)

SNV
Germline

Chr15:68229549

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA272398360

rs_1048000119

2 SubmittersRCV000592887 RCV001478203

NM_001909.5(CTSD):c.411G>A (p.Ser137=)

SNV
Germline

Chr11:1759029

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5814183

rs_372999684

3 SubmittersRCV000595979 RCV002062096 RCV002325137

NM_001371596.2(MFSD8):c.553+1G>A

SNV
Germline

Chr4:127942044

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA358175979

rs_1553950197

4 SubmittersRCV000599516 RCV003600384 RCV005034185

NM_001371596.2(MFSD8):c.863+1G>A

SNV
Germline

Chr4:127932984

Pathogenic

Late-infantile neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA105679760

rs_200319160

10 SubmittersRCV000616705 RCV001067482 RCV002529305 RCV001783107

NM_006493.2(CLN5):c.-8G>A

SNV
Germline

Chr13:76991944

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA7007061

rs_772316134

2 SubmittersRCV000612639 RCV001109121

NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)

SNV
Germline

Chr1:40092054

Likely pathogenic

Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA789741

rs_143657539

5 SubmittersRCV000624853 RCV002282269 RCV002531879

NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)

SNV
Germline

Chr13:77000567

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA388311935

rs_1555274338

5 SubmittersRCV000627363 RCV000625737 RCV001868156

NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)

SNV
Germline

Chr15:68208397

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630488

rs_746753722

5 SubmittersRCV000625854 RCV000799881 RCV005004278

NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)

SNV
Germline

Chr15:68211685

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA501025

rs_919850756

4 SubmittersRCV000625778 RCV002248826 RCV001091348 RCV001868157

NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)

SNV
Germline

Chr11:6615503

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379472987

rs_1471156821

3 SubmittersRCV000626244 RCV003884670

NM_017882.3(CLN6):c.185G>A (p.Arg62His)

SNV
Germline

Chr15:68218549

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630697

rs_751486476

4 SubmittersRCV000626225 RCV002529782 RCV003228965

NM_000310.4(PPT1):c.362+4C>T

SNV
Germline

Chr1:40092041

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA789738

rs_534592472

3 SubmittersRCV000641286 RCV003411517

NM_001371596.2(MFSD8):c.961G>A (p.Val321Ile)

SNV
Germline

Chr4:127930720

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3077331

rs_76506918

4 SubmittersRCV000640463 RCV001829793 RCV004948514 RCV005091855

NM_001909.5(CTSD):c.111G>A (p.Ser37=)

SNV
Germline

Chr11:1761426

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5814289

rs_535140505

3 SubmittersRCV000632708 RCV000711336

NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)

SNV
Germline

Chr11:6614982

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858644

rs_756530648

3 SubmittersRCV001829780 RCV001860495

NM_001909.5(CTSD):c.972+9C>T

SNV
Germline

Chr11:1753985

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA5813981

rs_746243061

2 SubmittersRCV000733126 RCV001088576

NM_001909.5(CTSD):c.410C>T (p.Ser137Leu)

SNV
Germline

Chr11:1759030

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases
CTSD-related disorder

Criteria Provided
Conflicting Classifications

CA5814184

rs_777645484

4 SubmittersRCV000632767 RCV001821790 RCV002315951 RCV003945587

NM_017882.3(CLN6):c.733G>A (p.Val245Ile)

SNV
Germline

Chr15:68208343

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7630480

rs_377192977

2 SubmittersRCV000632688 RCV005051808

NM_001909.5(CTSD):c.229-19G>A

SNV
Germline

Chr11:1759658

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA5814250

rs_368152533

2 SubmittersRCV000658402 RCV001861696

NM_000310.4(PPT1):c.835C>T (p.Gln279Ter)

SNV
Unknown

Chr1:40074147

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA339845666

rs_1553166135

1 SubmittersRCV000666663

NM_000310.4(PPT1):c.799-2A>G

SNV
Unknown

Chr1:40074185

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA339845854

rs_1553166147

1 SubmittersRCV000668323

NM_000310.4(PPT1):c.363-2A>G

SNV
Germline

Chr1:40091401

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339848944

rs_1553167430

2 SubmittersRCV000667194

NM_000310.4(PPT1):c.798+2T>C

SNV
Germline

Chr1:40076840

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339846346

rs_1553166337

3 SubmittersRCV000674642

NM_000310.4(PPT1):c.433+1G>A

SNV
Germline

Chr1:40091328

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339848794

rs_1553167415

3 SubmittersRCV000673308

NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)

SNV
Germline

Chr8:1780469

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA4599348

rs_746397087

3 SubmittersRCV000674890 RCV002544675

NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)

SNV
Germline

Chr8:1771337

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA4599239

rs_759830733

2 SubmittersRCV000670971 RCV001868250

NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)

SNV
Unknown

Chr8:1771360

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA369953280

rs_1554449124

1 SubmittersRCV000666024

NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)

SNV
Germline

Chr8:1771452

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953483

rs_554042394

2 SubmittersRCV000674248 RCV001381243

NM_018941.4(CLN8):c.544-2A>G

SNV
Unknown

Chr8:1780248

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA369953795

rs_1554451484

1 SubmittersRCV000668307

NM_018941.4(CLN8):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr8:1771056

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA369952681

rs_1554448874

1 SubmittersRCV000671294

NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)

SNV
Germline

Chr8:1771280

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953125

rs_1554449047

2 SubmittersRCV000672400 RCV002532124

NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)

SNV
Germline

Chr8:1771366

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953297

rs_1554449136

2 SubmittersRCV000672329 RCV001855577

NM_018941.4(CLN8):c.611G>A (p.Arg204His)

SNV
Germline

Chr8:1780317

Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA4599319

rs_386834134

3 SubmittersRCV000673946 RCV001045975

NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)

SNV
Germline

Chr11:6614892

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA379472297

rs_1184563885

7 SubmittersRCV000666347 RCV001386654 RCV001526988 RCV002530680

NM_000391.4(TPP1):c.225A>G (p.Gln75=)

SNV
Germline

Chr11:6618780

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA5859027

rs_368709098

8 SubmittersRCV000668623 RCV001215564 RCV001644760 RCV005049644

NM_000391.4(TPP1):c.1076-1G>A

SNV
Germline

Chr11:6616075

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA379473915

rs_1554901731

2 SubmittersRCV000666279 RCV001208874

NM_000391.4(TPP1):c.1076-2A>T

SNV
Germline

Chr11:6616076

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379473917

rs_1424116749

3 SubmittersRCV000670860 RCV001379972

NM_000391.4(TPP1):c.1076-2A>G

SNV
Germline

Chr11:6616076

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA379473919

rs_1424116749

3 SubmittersRCV000667649 RCV001379383 RCV003230565

NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)

SNV
Germline

Chr11:6616342

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA379474088

rs_1554901784

7 SubmittersRCV003117472 RCV000668234 RCV001058281 RCV005049642

NM_000391.4(TPP1):c.731T>C (p.Met244Thr)

SNV
Germline

Chr11:6616816

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA379475182

rs_1554901895

2 SubmittersRCV000672940 RCV005091958

NM_000391.4(TPP1):c.17+1G>A

SNV
Germline

Chr11:6619383

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA379477089

rs_779615685

2 SubmittersRCV000668665 RCV003767965

NM_000391.4(TPP1):c.1551+1G>T

SNV
Germline

Chr11:6614865

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA379472238

rs_786204553

4 SubmittersRCV000674411 RCV003558528 RCV005049652

NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)

SNV
Germline

Chr13:76992175

Pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388306486

rs_764790770

3 SubmittersRCV000668838

NC_000013.11:g.76991952A>C

SNV
Germline

Chr13:76991952

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA388305482

rs_1268502139

4 SubmittersRCV000670614 RCV002422455 RCV001438116

NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)

SNV
Germline

Chr15:68218550

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA392975522

rs_1451777867

3 SubmittersRCV000670264 RCV000689116

NM_017882.3(CLN6):c.486+1G>A

SNV
Germline

Chr15:68211674

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Neuronal ceroid lipofuscinosis
CLN6-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7630602

rs_756522171

5 SubmittersRCV000671252 RCV002499177 RCV001868252 RCV004754526 RCV002317912

NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)

SNV
Germline

Chr15:68208239

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392971810

rs_1555438212

2 SubmittersRCV000672314 RCV002532122

NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)

SNV
Germline

Chr15:68209759

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973070

rs_1555438443

2 SubmittersRCV000666578 RCV002530689

NM_001042432.2(CLN3):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:28491759

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
CLN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7981128

rs_386833708

3 SubmittersRCV000664968 RCV001868197 RCV003420170

NM_001042432.2(CLN3):c.963-2A>C

SNV
Unknown

Chr16:28482200

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA395344244

rs_1418997146

1 SubmittersRCV000664643

NM_001042432.2(CLN3):c.295-2A>C

SNV
Unknown

Chr16:28487743

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA395346168

rs_1478660606

1 SubmittersRCV000672581

NM_006493.4(CLN5):c.565+1G>A

SNV
Unknown

Chr13:76996128

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

No Assertion Criteria Provided

CA388309596

rs_1555274014

1 SubmittersRCV000670302

NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter)

SNV
Unknown

Chr16:28477818

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA395342860

rs_142456044

1 SubmittersRCV000665318

NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)

SNV
Germline

Chr15:68208180

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7630448

rs_758921701

4 SubmittersRCV000665887 RCV001855448 RCV002485526 RCV004568496

NM_001042432.2(CLN3):c.223-1G>A

SNV
Unknown

Chr16:28488663

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA395346370

rs_1555469089

1 SubmittersRCV000667804

NM_001042432.2(CLN3):c.47-1G>A

SNV
Germline

Chr16:28491561

Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA395347181

rs_1555469477

3 SubmittersRCV000670278 RCV000778462

NM_001042432.2(CLN3):c.46+1G>C

SNV
Unknown

Chr16:28491713

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA395347495

rs_1057516343

1 SubmittersRCV000674867

NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val)

SNV
Germline

Chr20:63929392

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA9969665

rs_139312819

4 SubmittersRCV000675869 RCV000812273

NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)

SNV
Germline

Chr15:68209640

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630517

rs_764571295

7 SubmittersRCV000678441 RCV001861858

NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)

SNV
Germline

Chr11:6617769

Pathogenic

Neuronal ceroid lipofuscinosis

No Assertion Criteria Provided

CA379476605

rs_1564855860

1 SubmittersRCV000678756

NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter)

SNV
Germline

Chr11:6616052

Pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379473815

rs_1564854729

1 SubmittersRCV000680130

NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)

SNV
Germline

Chr4:127921896

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA3077304

rs_756204684

3 SubmittersRCV000705218 RCV001825394

NM_001371596.2(MFSD8):c.64G>T (p.Glu22Ter)

SNV
Germline

Chr4:127957591

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358165332

rs_1560776422

1 SubmittersRCV000696434

NM_002087.4(GRN):c.991C>T (p.Gln331Ter)

SNV
Germline

Chr17:44351607

Pathogenic

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

Criteria Provided
Single Submitter

CA399765187

rs_1567887496

1 SubmittersRCV000690502

NM_006493.4(CLN5):c.486C>T (p.Gly162=)

SNV
Germline

Chr13:76996048

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
CLN5-related disorder

Criteria Provided
Conflicting Classifications

CA7007208

rs_769007858

3 SubmittersRCV000704205 RCV003411640

NM_001371596.2(MFSD8):c.525T>A (p.Cys175Ter)

SNV
Germline

Chr4:127942073

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358176111

rs_556661896

1 SubmittersRCV000715016

NM_001371596.2(MFSD8):c.754+1G>T

SNV
Germline

Chr4:127938782

Pathogenic/Likely pathogenic

Retinal dystrophy
Hereditary ataxia
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA105683267

rs_868732642

4 SubmittersRCV004817952 RCV005626180 RCV002318663 RCV002534929

NM_001371596.2(MFSD8):c.288A>G (p.Leu96=)

SNV
Germline

Chr4:127943903

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA105687123

rs_1008821019

3 SubmittersRCV001148068 RCV002318211

NM_001909.5(CTSD):c.37C>T (p.Leu13=)

SNV
Germline

Chr11:1763823

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA5814332

rs_763474887

3 SubmittersRCV002316092 RCV003236838 RCV003532251

NM_003793.4(CTSF):c.1253G>A (p.Arg418His)

SNV
Germline

Chr11:66564626

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuronal ceroid lipofuscinosis 13

Criteria Provided
Conflicting Classifications

CA6125257

rs_141345438

2 SubmittersRCV002312277 RCV001862012

NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)

SNV
Germline

Chr11:66568357

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 13
Inborn genetic diseases
CTSF-related disorder

Criteria Provided
Conflicting Classifications

CA6125707

rs_573483617

5 SubmittersRCV000991844 RCV002060952 RCV002318310 RCV003953286

NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)

SNV
Germline

Chr11:66566336

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 13
not specified
Condition: not provided
Inborn genetic diseases
CTSF-related disorder

Criteria Provided
Conflicting Classifications

CA6125487

rs_143313688

9 SubmittersRCV001079316 RCV001288581 RCV000968779 RCV002312778 RCV003980336

NM_002087.4(GRN):c.287A>G (p.His96Arg)

SNV
Germline

Chr17:44349689

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA8601827

rs_139272628

3 SubmittersRCV001868342 RCV002312349 RCV004547891

NM_002087.4(GRN):c.329G>A (p.Arg110Gln)

SNV
Germline

Chr17:44349731

Conflicting classifications of pathogenicity

Inborn genetic diseases
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11

Criteria Provided
Conflicting Classifications

CA8601839

rs_375439809

2 SubmittersRCV002318116 RCV002533029

NM_002087.4(GRN):c.139-3T>C

SNV
Germline

Chr17:44349423

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Condition: not provided
Inborn genetic diseases
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA8601776

rs_371119011

6 SubmittersRCV001207054 RCV001124956 RCV001702835 RCV002313697 RCV004547902

NM_002087.4(GRN):c.393C>G (p.Phe131Leu)

SNV
Germline

Chr17:44350271

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8601871

rs_149180605

4 SubmittersRCV000873800 RCV001662791 RCV001662792 RCV002317979

NM_002087.4(GRN):c.302G>A (p.Arg101Gln)

SNV
Germline

Chr17:44349704

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8601831

rs_201686997

3 SubmittersRCV001862013 RCV002312278

NM_002087.4(GRN):c.803C>T (p.Thr268Met)

SNV
Germline

Chr17:44351131

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases
Condition: not provided
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA8602016

rs_202006119

4 SubmittersRCV000817892 RCV002318177 RCV002473126 RCV004756021

NM_001371596.2(MFSD8):c.66A>G (p.Glu22=)

SNV
Germline

Chr4:127957589

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA441206116

rs_145529594

2 SubmittersRCV000728730 RCV001402734

NM_017882.3(CLN6):c.798C>T (p.Phe266=)

SNV
Germline

Chr15:68208278

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630470

rs_140319056

2 SubmittersRCV000730801 RCV001082640

NM_017882.3(CLN6):c.721A>G (p.Met241Val)

SNV
Germline

Chr15:68208355

Conflicting classifications of pathogenicity

Condition: not provided
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630482

rs_753994750

5 SubmittersRCV000731367 RCV005004392 RCV003647804

NM_001371596.2(MFSD8):c.15G>A (p.Arg5=)

SNV
Germline

Chr4:127965119

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA3077617

rs_762559863

3 SubmittersRCV000732646 RCV001472943

NM_001909.5(CTSD):c.1185T>G (p.Thr395=)

SNV
Germline

Chr11:1753557

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA472139769

rs_1565018468

2 SubmittersRCV000733905 RCV002536507

NM_000391.4(TPP1):c.380+5G>A

SNV
Germline/somatic

Chr11:6617621

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA913190239

rs_1564855725

3 SubmittersRCV000735435 RCV000988484

NM_002087.4(GRN):c.264+1G>A

SNV
Germline

Chr17:44349552

Likely pathogenic

Alzheimer disease
Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Criteria Provided
Multiple Submitters
No Conflicts

CA399760064

rs_1567885728

2 SubmittersRCV000736249 RCV001869013

NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr)

SNV
Germline

Chr13:76995993

Pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388309019

rs_1566219136

2 SubmittersRCV000761545

NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)

SNV
Germline

Chr15:68229502

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA392978054

rs_1381427322

2 SubmittersRCV000761549 RCV003479215

NM_000310.4(PPT1):c.146T>G (p.Leu49Ter)

SNV
Germline

Chr1:40092486

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339850103

rs_1557714302

1 SubmittersRCV000785936

NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)

SNV
Germline

Chr13:76995097

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 2D
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA388307755

rs_1593910113

2 SubmittersRCV003230275 RCV000791202

NM_001371596.2(MFSD8):c.233G>A (p.Trp78Ter)

SNV
Germline

Chr4:127943958

Pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358177083

rs_1578912362

2 SubmittersRCV000794452 RCV003141777

NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)

SNV
Germline

Chr8:1771349

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA170445729

rs_750162094

3 SubmittersRCV000810062 RCV005047096 RCV005427308

NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)

SNV
Germline

Chr11:6615245

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379472663

rs_1589947644

2 SubmittersRCV001369652 RCV001825581

NM_000391.4(TPP1):c.437C>T (p.Thr146Met)

SNV
Germline

Chr11:6617372

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA5858952

rs_748686068

5 SubmittersRCV001104755 RCV001869254 RCV002501061

NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr11:6617681

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379476327

rs_1589948943

2 SubmittersRCV000799250 RCV005049696

NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)

SNV
Germline

Chr11:6618842

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
not specified

Criteria Provided
Conflicting Classifications

CA379476772

rs_1315730321

3 SubmittersRCV000797713 RCV001825562 RCV005240584

NM_003793.4(CTSF):c.614G>A (p.Arg205Gln)

SNV
Germline

Chr11:66566398

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6125498

rs_142782021

2 SubmittersRCV000820991 RCV002352455

NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)

SNV
Germline

Chr15:68211755

Pathogenic

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA272384618

rs_1012449574

4 SubmittersRCV000813418 RCV002249523 RCV003145176

NM_001042432.2(CLN3):c.1056G>T (p.Gln352His)

SNV
Germline

Chr16:28482105

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395343889

rs_386833699

1 SubmittersRCV000817490

NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg)

SNV
Germline

Chr16:28486459

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395345438

rs_386833731

2 SubmittersRCV000805513 RCV004569622

NM_002087.4(GRN):c.268G>A (p.Val90Met)

SNV
Germline

Chr17:44349670

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
not specified

Criteria Provided
Conflicting Classifications

CA8601821

rs_200019356

3 SubmittersRCV001124958 RCV000822374 RCV005436079

NM_001042432.2(CLN3):c.461-1G>T

SNV
Germline

Chr16:28486651

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395345754

rs_386833722

4 SubmittersRCV000812096 RCV003467458

NM_017882.3(CLN6):c.199-5C>T

SNV
Germline

Chr15:68214393

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7630670

rs_371705916

6 SubmittersRCV000864156 RCV001084695 RCV002415998

NM_001042432.2(CLN3):c.126-8C>T

SNV
Germline

Chr16:28489394

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7981047

rs_770136863

3 SubmittersRCV001116113 RCV000862905 RCV001712802

NM_001909.5(CTSD):c.697C>T (p.Leu233=)

SNV
Germline

Chr11:1757331

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA5814111

rs_142330967

2 SubmittersRCV000868179 RCV001500461

NM_006493.4(CLN5):c.1026A>G (p.Thr342=)

SNV
Germline

Chr13:77000918

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7007286

rs_200637649

5 SubmittersRCV000867013 RCV001114863 RCV002332798

NM_017882.3(CLN6):c.831C>T (p.Val277=)

SNV
Germline

Chr15:68208245

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7630463

rs_753344266

4 SubmittersRCV000868299 RCV001655622 RCV002427156

NM_003793.4(CTSF):c.614G>T (p.Arg205Leu)

SNV
Germline

Chr11:66566398

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6125499

rs_142782021

3 SubmittersRCV000882323 RCV002065474 RCV002354714

NM_017882.3(CLN6):c.763C>T (p.Leu255=)

SNV
Germline

Chr15:68208313

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA491099995

rs_1195840845

3 SubmittersRCV001501377 RCV002390878 RCV000895302

NM_001042432.2(CLN3):c.693C>T (p.Leu231=)

SNV
Germline

Chr16:28484103

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7980847

rs_376590377

2 SubmittersRCV000894808 RCV002264990

NM_000391.4(TPP1):c.858C>T (p.Asn286=)

SNV
Germline

Chr11:6616689

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA472922663

rs_1420315178

2 SubmittersRCV000940505 RCV005392568

NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter)

SNV
Germline

Chr4:127921661

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358171248

rs_778875017

2 SubmittersRCV000987473

NM_001371596.2(MFSD8):c.199-2A>G

SNV
Unknown

Chr4:127943994

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358177216

rs_1578912759

1 SubmittersRCV000987475

NM_001371596.2(MFSD8):c.63-1G>A

SNV
Germline

Chr4:127957593

Pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358165339

rs_1314967038

3 SubmittersRCV000987476 RCV001593164

NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser)

SNV
Unknown

Chr8:1771527

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953637

rs_386834130

1 SubmittersRCV000988029

NM_000391.4(TPP1):c.687+1G>C

SNV
Unknown

Chr11:6616974

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379475297

rs_1465284719

1 SubmittersRCV000988483

NM_002087.4(GRN):c.253C>G (p.Pro85Ala)

SNV
Germline

Chr17:44349540

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Inborn genetic diseases
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA8601798

rs_143560849

4 SubmittersRCV000992526 RCV002067595 RCV002454237 RCV004553533

NM_002087.4(GRN):c.1112G>C (p.Ser371Thr)

SNV
Germline

Chr17:44351728

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8602101

rs_149023078

3 SubmittersRCV001869374 RCV002550640 RCV000992525

NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr)

SNV
Germline

Chr11:66564632

Pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

CA381456719

rs_1565311875

1 SubmittersRCV000995752

NM_002087.4(GRN):c.349+1G>C

SNV
Germline

Chr17:44349752

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399760751

rs_1598363083

2 SubmittersRCV000995780 RCV001858821

NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)

SNV
Germline

Chr15:68209640

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630516

rs_764571295

4 SubmittersRCV001004876 RCV002549262 RCV005004478

NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser)

SNV
Germline

Chr20:63929397

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9969668

rs_772453351

2 SubmittersRCV001034262 RCV004973244

NM_000310.4(PPT1):c.749G>A (p.Gly250Asp)

SNV
Germline

Chr1:40076891

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
not specified

Criteria Provided
Conflicting Classifications

CA339846457

rs_386833666

2 SubmittersRCV001068242 RCV004768846

NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)

SNV
Germline

Chr4:127920794

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA358170788

rs_1043984708

3 SubmittersRCV001050490 RCV002469331

NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val)

SNV
Germline

Chr4:127930750

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3077336

rs_753930474

3 SubmittersRCV001049609 RCV001832462 RCV005367684

NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr4:127957552

Pathogenic

Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA3077573

rs_749315686

5 SubmittersRCV001049768 RCV001271146 RCV002497393

NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)

SNV
Germline

Chr8:1771365

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953295

rs_1801297484

1 SubmittersRCV001057047

NM_018941.4(CLN8):c.523G>A (p.Val175Ile)

SNV
Germline

Chr8:1771577

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA4599280

rs_768139689

3 SubmittersRCV001052230 RCV001772259 RCV001832480

NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)

SNV
Germline

Chr11:6617328

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA5858944

rs_764256845

3 SubmittersRCV001065769 RCV002265936 RCV002497463

NM_000391.4(TPP1):c.323C>T (p.Ala108Val)

SNV
Germline

Chr11:6617683

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA5858991

rs_374132017

3 SubmittersRCV001068034 RCV001836109

NM_006493.4(CLN5):c.83G>A (p.Trp28Ter)

SNV
Germline

Chr13:76992181

Pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388306513

rs_1242337070

2 SubmittersRCV001070707 RCV001729791

NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)

SNV
Germline

Chr15:68211263

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973084

rs_1380684360

1 SubmittersRCV001042074

NM_025219.3(DNAJC5):c.429C>T (p.Gly143=)

SNV
Germline

Chr20:63930958

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
DNAJC5-related disorder

Criteria Provided
Conflicting Classifications

CA9969744

rs_753956759

3 SubmittersRCV001058062 RCV001593231 RCV004758776

NM_001371596.2(MFSD8):c.863+1G>T

SNV
Germline

Chr4:127932984

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358174580

rs_200319160

1 SubmittersRCV001062378

NM_001371596.2(MFSD8):c.699-1G>C

SNV
Germline

Chr4:127938839

Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA358175291

rs_1739594685

3 SubmittersRCV001037170 RCV001832379 RCV002551375

NM_006493.4(CLN5):c.173+1G>T

SNV
Germline

Chr13:76992272

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388306966

rs_1739482158

1 SubmittersRCV001036090

NM_017882.3(CLN6):c.199-2A>G

SNV
Germline

Chr15:68214390

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392974522

rs_1471253353

1 SubmittersRCV001043252

NM_001042432.2(CLN3):c.374+1G>A

SNV
Germline

Chr16:28487661

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395346006

rs_2046243804

1 SubmittersRCV001057311

NM_001909.5(CTSD):c.827+2T>C

SNV
Germline

Chr11:1754904

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379095003

rs_1845791308

1 SubmittersRCV001057268

NM_001042432.2(CLN3):c.790+2T>C

SNV
Germline

Chr16:28484004

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395344683

rs_1397197980

2 SubmittersRCV001057267 RCV001784607

NM_001042432.2(CLN3):c.963-2A>G

SNV
Germline

Chr16:28482200

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344243

rs_1418997146

1 SubmittersRCV001057880

NM_001042432.2(CLN3):c.867C>T (p.Val289=)

SNV
Germline

Chr16:28482516

Conflicting classifications of pathogenicity

Retinal dystrophy
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA494270640

rs_2046117159

2 SubmittersRCV001075530 RCV001392765

NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr16:28484045

Pathogenic/Likely pathogenic

Retinal dystrophy
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA395344775

rs_2046158549

4 SubmittersRCV001074167 RCV001376248 RCV001862820

NM_001371596.2(MFSD8):c.754+1G>C

SNV
Germline

Chr4:127938782

Pathogenic

Condition: not provided
Late-infantile neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA358175159

rs_868732642

2 SubmittersRCV001091383 RCV005606764

NM_001371596.2(MFSD8):c.754+1G>A

SNV
Germline

Chr4:127938782

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA358175160

rs_868732642

4 SubmittersRCV001092642 RCV001204062 RCV001706719 RCV005036400

NM_000310.4(PPT1):c.*708A>C

SNV
Germline

Chr1:40073353

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA20998208

rs_368715899

2 SubmittersRCV001100133 RCV001840782

NM_000310.4(PPT1):c.894T>C (p.Tyr298=)

SNV
Germline

Chr1:40074088

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA789542

rs_781759073

2 SubmittersRCV001098458

NM_000310.4(PPT1):c.690C>T (p.Phe230=)

SNV
Germline

Chr1:40078596

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA417322211

rs_1648754113

2 SubmittersRCV001100229

NM_001909.5(CTSD):c.999C>A (p.Ser333=)

SNV
Germline

Chr11:1753875

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA472140431

rs_755867394

2 SubmittersRCV001103556 RCV002558037

NM_001909.5(CTSD):c.315C>A (p.Val105=)

SNV
Germline

Chr11:1759553

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA471988375

rs_1845849420

2 SubmittersRCV001106637 RCV005093500

NM_001909.5(CTSD):c.285C>T (p.Val95=)

SNV
Germline

Chr11:1759583

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA471988489

rs_1845849997

2 SubmittersRCV001106638 RCV002069754

NM_000391.4(TPP1):c.993C>T (p.Ser331=)

SNV
Germline

Chr11:6616397

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA472922480

rs_1855585414

2 SubmittersRCV001102829 RCV001433985

NM_000391.4(TPP1):c.1552-14A>C

SNV
Germline

Chr11:6614700

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA217320833

rs_1006965532

2 SubmittersRCV001107390 RCV002067793

NM_017882.3(CLN6):c.*42T>G

SNV
Germline

Chr15:68208098

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7630426

rs_754655363

2 SubmittersRCV001119503 RCV001619887

NM_017882.3(CLN6):c.597C>G (p.Ala199=)

SNV
Germline

Chr15:68209705

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630525

rs_368546281

2 SubmittersRCV001121504

NM_017882.3(CLN6):c.-38C>T

SNV
Germline

Chr15:68229622

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7630736

rs_756496671

2 SubmittersRCV001121602 RCV001638041

NM_001042432.2(CLN3):c.1119C>T (p.Leu373=)

SNV
Germline

Chr16:28477815

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA7980684

rs_376478363

2 SubmittersRCV001422385 RCV001116003

NM_001042432.2(CLN3):c.759C>A (p.Leu253=)

SNV
Germline

Chr16:28484037

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7980832

rs_772274552

4 SubmittersRCV001117457 RCV001419724 RCV002221608

NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)

SNV
Germline

Chr16:28486459

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA395345435

rs_386833731

4 SubmittersRCV001119059 RCV005056903

NM_017882.3(CLN6):c.83+11G>A

SNV
Germline

Chr15:68229491

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA1139664049

rs_2093262385

2 SubmittersRCV001118066

NM_002087.4(GRN):c.57G>T (p.Arg19=)

SNV
Germline

Chr17:44349221

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA500242789

rs_1426790644

2 SubmittersRCV001124954 RCV002556706

NM_002087.4(GRN):c.99C>A (p.Asp33Glu)

SNV
Germline

Chr17:44349263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8601746

rs_63750742

3 SubmittersRCV001124955 RCV001242925 RCV001593285

NM_002087.4(GRN):c.626C>T (p.Pro209Leu)

SNV
Germline

Chr17:44350718

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA8601958

rs_368995988

5 SubmittersRCV001125934 RCV001472771 RCV002365805 RCV004548005

NM_002087.4(GRN):c.1019A>T (p.His340Leu)

SNV
Germline

Chr17:44351635

Conflicting classifications of pathogenicity

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8602086

rs_775196555

3 SubmittersRCV001128039 RCV001856672 RCV002365806

NM_002087.4(GRN):c.1357G>A (p.Gly453Arg)

SNV
Germline

Chr17:44352192

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8602180

rs_751072702

2 SubmittersRCV001122278 RCV001294896

NM_002087.4(GRN):c.1518C>T (p.Thr506=)

SNV
Germline

Chr17:44352445

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8602228

rs_768852944

3 SubmittersRCV001122280 RCV003425938 RCV005213461

NM_002087.4(GRN):c.1521C>T (p.Phe507=)

SNV
Germline

Chr17:44352448

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8602229

rs_140070738

2 SubmittersRCV001122281 RCV002556633

NM_002087.4(GRN):c.1548G>T (p.Val516=)

SNV
Germline

Chr17:44352475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290927079

rs_1044281109

2 SubmittersRCV001125057 RCV002556711

NM_002087.4(GRN):c.709-12G>C

SNV
Germline

Chr17:44351025

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8601997

rs_771557106

4 SubmittersRCV001125935 RCV001579636 RCV002070054

NM_002087.4(GRN):c.933+15C>T

SNV
Germline

Chr17:44351475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA626224192

rs_1306228988

2 SubmittersRCV001128037 RCV001856671

NM_002087.4(GRN):c.1180-8C>T

SNV
Germline

Chr17:44352007

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8602139

rs_774308165

2 SubmittersRCV001128041 RCV003769226

NM_025219.3(DNAJC5):c.162G>A (p.Ala54=)

SNV
Germline

Chr20:63929366

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA9969662

rs_781164296

2 SubmittersRCV001139073 RCV002070639

NM_006493.4(CLN5):c.174-2A>G

SNV
Germline

Chr13:76995061

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388307645

rs_2034241585

2 SubmittersRCV001194250

NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys)

SNV
Unknown

Chr4:127930758

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA3077337

rs_757345902

1 SubmittersRCV001197069

NM_001371596.2(MFSD8):c.479C>T (p.Thr160Ile)

SNV
Germline

Chr4:127942119

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358176358

rs_1162750836

3 SubmittersRCV001196673 RCV005623394

NM_001371596.2(MFSD8):c.1350+2T>C

SNV
Germline

Chr4:127921522

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358170882

rs_1736332381

2 SubmittersRCV001196672

NM_000310.4(PPT1):c.218G>C (p.Gly73Ala)

SNV
Germline

Chr1:40092414

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849616

rs_1649619197

1 SubmittersRCV001224764

NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu)

SNV
Germline

Chr4:127920764

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3077225

rs_528664888

3 SubmittersRCV001560430 RCV001218693 RCV005601712

NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)

SNV
Germline

Chr16:28489337

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7981034

rs_765893479

7 SubmittersRCV001222663 RCV001810499 RCV002462842 RCV004813909 RCV003346386

NM_006493.4(CLN5):c.420A>G (p.Gln140=)

SNV
Germline

Chr13:76995982

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA7007200

rs_753732321

3 SubmittersRCV001202432 RCV002491605

NM_002087.4(GRN):c.662G>C (p.Cys221Ser)

SNV
Germline

Chr17:44350754

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8601967

rs_758322775

3 SubmittersRCV001204178 RCV004720297

NM_001371596.2(MFSD8):c.199-1G>C

SNV
Germline

Chr4:127943993

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358177210

rs_1449062348

1 SubmittersRCV001207633

NM_000310.4(PPT1):c.727-1G>A

SNV
Germline

Chr1:40076914

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846514

rs_1648659458

1 SubmittersRCV001220801

NM_006493.4(CLN5):c.173+5G>A

SNV
Germline

Chr13:76992276

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA913185959

rs_2034192763

3 SubmittersRCV001726454 RCV001224988

NM_001042432.2(CLN3):c.534-2A>G

SNV
Germline

Chr16:28486492

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395345587

rs_2046221354

3 SubmittersRCV001219439 RCV003469375

NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)

SNV
Germline

Chr15:68208301

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7630474

rs_150363441

7 SubmittersRCV001235065 RCV001561994 RCV001375037 RCV002246224 RCV002563820

NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)

SNV
Germline

Chr11:6616501

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA5858809

rs_553122824

3 SubmittersRCV001243103 RCV001836218

NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)

SNV
Germline

Chr13:77000730

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA7007267

rs_768449493

4 SubmittersRCV001243960 RCV001729819

NM_001042432.2(CLN3):c.375-2A>T

SNV
Germline

Chr16:28487543

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395345999

rs_2046240661

1 SubmittersRCV001232547

NM_001042432.2(CLN3):c.125+1G>C

SNV
Germline

Chr16:28491481

Pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7981072

rs_775616181

2 SubmittersRCV001225343 RCV003469396

NM_000391.4(TPP1):c.1075+2T>C

SNV
Germline

Chr11:6616313

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379473972

rs_1855583482

4 SubmittersRCV001239840 RCV001828943 RCV005050306

NM_002087.4(GRN):c.103G>A (p.Gly35Arg)

SNV
Germline

Chr17:44349267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8601748

rs_533451404

3 SubmittersRCV001254077 RCV002224041 RCV002570552

NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter)

SNV
Germline

Chr4:127939935

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358175474

rs_1209722075

4 SubmittersRCV001255132

NM_000310.4(PPT1):c.733G>A (p.Gly245Arg)

SNV
Germline

Chr1:40076907

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846493

rs_1259755308

2 SubmittersRCV001255711

NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)

SNV
Germline

Chr4:127920793

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358170787

rs_1275962600

5 SubmittersRCV001263428 RCV002272437

NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)

SNV
Unknown

Chr15:68211306

Likely pathogenic

Adult neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

CA392973205

rs_2093204342

1 SubmittersRCV001264033

NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)

SNV
Unknown

Chr15:68211734

Likely pathogenic

Adult neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

CA392973428

rs_2093205953

1 SubmittersRCV001264034

NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)

SNV
Unknown

Chr15:68214369

Likely pathogenic

Adult neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

CA392974482

rs_2093214695

1 SubmittersRCV001264035

NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter)

SNV
Unknown

Chr16:28482327

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395344250

rs_2046112247

1 SubmittersRCV001263873

NM_006493.4(CLN5):c.787A>G (p.Ser263Gly)

SNV
Germline

Chr13:77000679

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA388313194

rs_1329255995

2 SubmittersRCV001269549 RCV005094285

NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)

SNV
Germline

Chr11:6615256

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379472687

rs_119455956

1 SubmittersRCV001290314

NM_000391.4(TPP1):c.688-1G>T

SNV
Germline

Chr11:6616860

Pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475288

rs_1855593862

1 SubmittersRCV001290315

NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)

SNV
Germline

Chr4:127943776

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA105686936

rs_993001712

6 SubmittersRCV001297889 RCV001310496

NM_001042432.2(CLN3):c.460+1G>A

SNV
Germline

Chr16:28487455

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA395345763

rs_1397086223

2 SubmittersRCV001310328 RCV002545033

NM_017882.3(CLN6):c.506T>A (p.Leu169His)

SNV
Germline

Chr15:68211299

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA392973187

rs_1344658850

2 SubmittersRCV001314504 RCV002246295

NM_017882.3(CLN6):c.3G>A (p.Met1Ile)

SNV
Germline

Chr15:68229582

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA392978388

rs_2093262869

3 SubmittersRCV001316419 RCV005005165

NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)

SNV
Germline

Chr16:28487537

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

CA7980940

rs_201168980

3 SubmittersRCV001318858 RCV002476489

NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)

SNV
Germline

Chr11:66567259

Pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

CA381465632

rs_758004789

1 SubmittersRCV003112039

NM_001371596.2(MFSD8):c.1437G>A (p.Trp479Ter)

SNV
Germline

Chr4:127920750

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358170689

rs_2148837137

2 SubmittersRCV001358676

NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)

SNV
Germline

Chr8:1771263

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA369953092

rs_386834124

3 SubmittersRCV001373416 RCV002246347

NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)

SNV
Germline

Chr8:1771509

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599267

rs_138581191

4 SubmittersRCV001359907 RCV001549577 RCV002341751

NM_017882.3(CLN6):c.338C>T (p.Thr113Met)

SNV
Germline

Chr15:68211823

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630621

rs_758830997

2 SubmittersRCV001365750 RCV002246341

NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)

SNV
Germline

Chr15:68211850

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
not specified
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Conflicting Classifications

CA392973689

rs_777921628

3 SubmittersRCV001368706 RCV003230664 RCV003388608

NM_001042432.2(CLN3):c.791-7C>A

SNV
Germline

Chr16:28482679

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA279782468

rs_942972881

2 SubmittersRCV002245980 RCV001370695

NM_000310.4(PPT1):c.628-2A>G

SNV
Germline

Chr1:40078660

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846991

rs_2124472385

1 SubmittersRCV001378615

NM_001371596.2(MFSD8):c.864-1G>A

SNV
Germline

Chr4:127930818

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Condition: not provided
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA3077347

rs_571950296

5 SubmittersRCV001379020 RCV001831364 RCV003128762 RCV005038169

NM_017882.3(CLN6):c.543-2A>G

SNV
Germline

Chr15:68209761

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973075

rs_2141137336

1 SubmittersRCV001377170

NM_017882.3(CLN6):c.486+1G>C

SNV
Germline

Chr15:68211674

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973299

rs_756522171

1 SubmittersRCV001377046

NM_001042432.2(CLN3):c.1057-2A>G

SNV
Germline

Chr16:28477879

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395343200

rs_1218568487

1 SubmittersRCV001379292

NM_001042432.2(CLN3):c.962+2T>G

SNV
Germline

Chr16:28482325

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA7980748

rs_746674736

1 SubmittersRCV001378965

NM_000310.4(PPT1):c.541G>C (p.Val181Leu)

SNV
Germline

Chr1:40080483

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339847926

rs_148412181

3 SubmittersRCV001385552 RCV001547349

NM_000310.4(PPT1):c.51G>A (p.Trp17Ter)

SNV
Germline

Chr1:40097188

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339850792

rs_2124494531

1 SubmittersRCV001387455

NM_001371596.2(MFSD8):c.1325C>A (p.Ser442Ter)

SNV
Germline

Chr4:127921549

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA105670639

rs_953995815

2 SubmittersRCV001388134 RCV005235579

NM_018941.4(CLN8):c.130C>T (p.Gln44Ter)

SNV
Germline

Chr8:1771184

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952934

rs_2130990747

1 SubmittersRCV001381074

NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)

SNV
Germline

Chr11:6614612

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379472067

rs_2134590423

2 SubmittersRCV001387036 RCV002512153

NM_006493.4(CLN5):c.580C>T (p.Gln194Ter)

SNV
Germline

Chr13:77000472

Pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388311212

rs_2154035107

2 SubmittersRCV001389234 RCV001729913

NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)

SNV
Germline

Chr13:77000882

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA252177689

rs_386833968

5 SubmittersRCV001385483 RCV001729909

NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)

SNV
Germline

Chr15:68208308

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Condition: not provided
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA7630475

rs_760271120

5 SubmittersRCV001385144 RCV001560278 RCV005005235 RCV005411738

NM_001042432.2(CLN3):c.1198-2A>C

SNV
Germline

Chr16:28477637

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395342110

rs_2141693746

1 SubmittersRCV001390150

NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter)

SNV
Germline

Chr16:28491717

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395347505

rs_1228953213

1 SubmittersRCV001384656

NM_002087.4(GRN):c.614C>A (p.Ser205Ter)

SNV
Germline

Chr17:44350706

Pathogenic

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

Criteria Provided
Single Submitter

CA399764129

rs_777211749

1 SubmittersRCV001384779

NM_001042432.2(CLN3):c.461-4C>A

SNV
Germline

Chr16:28486654

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA622160640

rs_1006236175

2 SubmittersRCV001446862 RCV002341986

NM_017882.3(CLN6):c.199-4G>A

SNV
Germline

Chr15:68214392

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630669

rs_767945732

2 SubmittersRCV002567961 RCV001503429

NM_001371596.2(MFSD8):c.1351-1G>A

SNV
Germline

Chr4:127920837

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Abnormality of the nervous system

Criteria Provided
Conflicting Classifications

CA3077235

rs_565253666

2 SubmittersRCV002568933 RCV001814504

NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)

SNV
Germline

Chr15:68214291

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Inborn genetic diseases
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA272387628

rs_146782642

5 SubmittersRCV001543159 RCV002568264 RCV005253859 RCV002032545 RCV005005956

NM_017882.3(CLN6):c.103G>A (p.Asp35Asn)

SNV
Germline

Chr15:68218631

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7630712

rs_533231370

3 SubmittersRCV001551476 RCV002032586 RCV002388586

NM_001371596.2(MFSD8):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr4:127943932

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358177028

rs_1300341137

2 SubmittersRCV001574809 RCV002569076

NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)

SNV
Germline

Chr16:28486599

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA395345652

rs_1401497994

4 SubmittersRCV001591920 RCV001866161 RCV002471126 RCV004815578

NM_000310.4(PPT1):c.442G>T (p.Gly148Ter)

SNV
Unknown

Chr1:40089504

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339848766

rs_2124484378

1 SubmittersRCV001650479

NM_000310.4(PPT1):c.286T>C (p.Cys96Arg)

SNV
Germline

Chr1:40092121

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 1
not specified

Criteria Provided
Conflicting Classifications

CA339849198

rs_2124487866

3 SubmittersRCV001665413 RCV002032636 RCV004526857

NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser)

SNV
Germline

Chr11:66564952

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 13

Criteria Provided
Conflicting Classifications

CA6125316

rs_201500574

3 SubmittersRCV001773945 RCV002425043 RCV001861081

NM_003793.4(CTSF):c.1045+1G>T

SNV
Germline

Chr11:66565670

Likely pathogenic

Neuronal ceroid lipofuscinosis 13
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA381458466

rs_1456291681

2 SubmittersRCV001780897 RCV002541188

NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu)

SNV
Germline

Chr11:6616374

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA379474153

rs_765380155

2 SubmittersRCV001783896 RCV001823310

NM_001371596.2(MFSD8):c.198+2T>C

SNV
Germline

Chr4:127949802

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358178228

rs_2148943607

2 SubmittersRCV001823671

NM_000310.4(PPT1):c.728G>A (p.Trp243Ter)

SNV
Germline

Chr1:40076912

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846507

rs_1477443863

1 SubmittersRCV001924963

NM_000310.4(PPT1):c.235-1G>C

SNV
Germline

Chr1:40092173

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849429

rs_2124487981

1 SubmittersRCV001990690

NM_001042432.2(CLN3):c.500T>A (p.Val167Asp)

SNV
Germline

Chr16:28486611

Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395345678

rs_1418465028

2 SubmittersRCV001891503 RCV005016769

NM_000310.4(PPT1):c.218G>A (p.Gly73Glu)

SNV
Germline

Chr1:40092414

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849619

rs_1649619197

1 SubmittersRCV001984269

NM_001371596.2(MFSD8):c.999-1G>A

SNV
Germline

Chr4:127921964

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358172142

rs_2148841537

1 SubmittersRCV001970620

NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter)

SNV
Germline

Chr13:77000879

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388314648

rs_2034349886

2 SubmittersRCV001960560 RCV003471150

NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)

SNV
Germline

Chr8:1771083

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952735

rs_1454175058

1 SubmittersRCV001917477

NM_018941.4(CLN8):c.635G>A (p.Trp212Ter)

SNV
Germline

Chr8:1780341

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369954001

rs_2129015230

1 SubmittersRCV001920978

NM_000310.4(PPT1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr1:40097237

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339850879

rs_796052927

1 SubmittersRCV001917377

NM_000310.4(PPT1):c.741C>A (p.Tyr247Ter)

SNV
Germline

Chr1:40076899

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846476

rs_2124470378

1 SubmittersRCV001878098

NM_017882.3(CLN6):c.298-1G>C

SNV
Germline

Chr15:68211864

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973747

rs_1595818391

1 SubmittersRCV001976008

NM_001042432.2(CLN3):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr16:28484087

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344892

rs_2141707084

1 SubmittersRCV001981877

NM_006493.4(CLN5):c.982G>T (p.Glu328Ter)

SNV
Germline

Chr13:77000874

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388314624

rs_2154035204

2 SubmittersRCV001963063 RCV005008311

NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)

SNV
Germline

Chr8:1771180

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952923

rs_192196274

1 SubmittersRCV001994795

NM_006493.4(CLN5):c.404G>A (p.Trp135Ter)

SNV
Germline

Chr13:76995966

Pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388308856

rs_2154034716

2 SubmittersRCV001926582 RCV004571628

NM_000391.4(TPP1):c.509-6C>G

SNV
Germline

Chr11:6617159

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA5858908

rs_778046473

2 SubmittersRCV001926740 RCV002484587

NM_018941.4(CLN8):c.543+1G>A

SNV
Germline

Chr8:1771598

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953788

rs_756267448

1 SubmittersRCV001999996

NM_001371596.2(MFSD8):c.554-1G>C

SNV
Germline

Chr4:127939998

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358175611

rs_773886985

1 SubmittersRCV002038325

NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter)

SNV
Germline

Chr8:1771159

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952882

rs_2130990601

1 SubmittersRCV002007433

NM_001042432.2(CLN3):c.825G>A (p.Trp275Ter)

SNV
Germline

Chr16:28482638

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344607

rs_2141704162

1 SubmittersRCV002007566

NM_001042432.2(CLN3):c.907-2A>G

SNV
Germline

Chr16:28482384

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344380

rs_2141703433

1 SubmittersRCV002016097

NM_018941.4(CLN8):c.539T>A (p.Leu180Ter)

SNV
Germline

Chr8:1771593

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953775

rs_1801309834

1 SubmittersRCV001941941

NM_001371596.2(MFSD8):c.1064T>G (p.Leu355Ter)

SNV
Germline

Chr4:127921898

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358171816

rs_2148841110

2 SubmittersRCV001870144

NM_001042432.2(CLN3):c.1056+1G>T

SNV
Germline

Chr16:28482104

Likely pathogenic

Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA395343882

rs_1217725909

2 SubmittersRCV001990458 RCV002569254

NM_001371596.2(MFSD8):c.77T>G (p.Leu26Ter)

SNV
Germline

Chr4:127957578

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA3077576

rs_760049336

2 SubmittersRCV001900279 RCV005023342

NM_001909.5(CTSD):c.228+1G>T

SNV
Germline

Chr11:1761308

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379099342

rs_766300396

1 SubmittersRCV002020530

NM_002087.4(GRN):c.1216C>T (p.Gln406Ter)

SNV
Germline

Chr17:44352051

Pathogenic

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

Criteria Provided
Single Submitter

CA399768313

rs_2143344360

1 SubmittersRCV001970022

NM_001042432.2(CLN3):c.906+2T>G

SNV
Germline

Chr16:28482475

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344382

rs_771788391

1 SubmittersRCV001961679

NM_002087.4(GRN):c.934-1G>A

SNV
Germline

Chr17:44351549

Likely pathogenic

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

Criteria Provided
Single Submitter

CA399765029

rs_2143340416

1 SubmittersRCV001996070

NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln)

SNV
Germline

Chr16:28482648

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7980813

rs_145270402

2 SubmittersRCV001916002 RCV002557603

NM_001909.5(CTSD):c.244G>T (p.Glu82Ter)

SNV
Germline

Chr11:1759624

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379098566

rs_1845850847

1 SubmittersRCV001918223

NM_001909.5(CTSD):c.228+1G>A

SNV
Germline

Chr11:1761308

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA5814267

rs_766300396

1 SubmittersRCV001980415

NM_006493.4(CLN5):c.627T>G (p.Tyr209Ter)

SNV
Germline

Chr13:77000519

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388311504

rs_763980789

1 SubmittersRCV001914211

NM_002087.4(GRN):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:44349165

Pathogenic

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

Criteria Provided
Single Submitter

CA399758963

rs_746037872

1 SubmittersRCV002047593

NM_003793.4(CTSF):c.160C>A (p.Arg54=)

SNV
Germline

Chr11:66568327

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224083365

rs_776443007

3 SubmittersRCV001890512 RCV005235602

NM_000310.4(PPT1):c.551A>T (p.Glu184Val)

SNV
Germline

Chr1:40080473

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339847880

rs_2124474566

1 SubmittersRCV002071015

NM_001371596.2(MFSD8):c.1439G>T (p.Gly480Val)

SNV
Germline

Chr4:127920748

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA358170682

rs_2148837121

2 SubmittersRCV002214332 RCV004577011

NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)

SNV
Germline

Chr13:76996037

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA388309265

rs_2154034738

2 SubmittersRCV002227866 RCV003647861

NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter)

SNV
Germline

Chr4:127920767

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358170728

rs_370663969

3 SubmittersRCV002250114 RCV003126205

NM_006493.4(CLN5):c.594G>A (p.Trp198Ter)

SNV
Germline

Chr13:77000486

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA388311287

rs_2034339711

3 SubmittersRCV002255219 RCV003647863 RCV005008494

NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr11:6616757

Pathogenic

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379475063

rs_1405952769

2 SubmittersRCV002266274 RCV003560903

NM_001371596.2(MFSD8):c.699-1G>A

SNV
Germline

Chr4:127938839

Pathogenic

Neuronal ceroid lipofuscinosis 7
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Single Submitter

CA358175292

rs_1739594685

1 SubmittersRCV002267578 RCV002267579

NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)

SNV
Germline

Chr11:6618875

Pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379476838

rs_2134598107

1 SubmittersRCV002275703

NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)

SNV
Germline

Chr11:6616378

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379474160

rs_2493798203

1 SubmittersRCV002287302

NM_006493.4(CLN5):c.338T>A (p.Leu113Ter)

SNV
Unknown

Chr13:76995227

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA388308436

rs_2501136073

1 SubmittersRCV002306665

NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)

SNV
Germline

Chr16:28486414

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395345299

rs_2506482028

2 SubmittersRCV002308239

NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)

SNV
Unknown

Chr16:28482531

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395344499

rs_1294714405

1 SubmittersRCV002308345

NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)

SNV
Unknown

Chr11:6616486

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379474658

rs_2493798476

1 SubmittersRCV002309059

NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)

SNV
Unknown

Chr16:28482123

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395343979

rs_2506448642

1 SubmittersRCV002307168

NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)

SNV
Unknown

Chr11:6617024

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475407

rs_773546205

1 SubmittersRCV002310309

NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)

SNV
Unknown

Chr11:6616780

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475104

rs_2493798930

1 SubmittersRCV002310313

NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)

SNV
Unknown

Chr11:6616787

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475119

rs_2493798943

1 SubmittersRCV002310324

NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)

SNV
Unknown

Chr11:6616671

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379474836

rs_1176117951

1 SubmittersRCV002310333

NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)

SNV
Unknown

Chr16:28486583

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395345620

rs_2506484397

1 SubmittersRCV002310399

NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)

SNV
Unknown

Chr16:28488609

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395346224

rs_1443772167

1 SubmittersRCV002308399

NM_001371596.2(MFSD8):c.29A>G (p.Gln10Arg)

SNV
Germline

Chr4:127965105

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

CA3077611

rs_532843679

2 SubmittersRCV002435601 RCV003102960

NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)

SNV
Germline

Chr11:6616378

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379474161

rs_2493798203

2 SubmittersRCV002471430 RCV003574977

NM_001371596.2(MFSD8):c.416G>T (p.Arg139Leu)

SNV
Germline

Chr4:127943775

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA3077485

rs_749704755

1 SubmittersRCV002471478

NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter)

SNV
Germline

Chr4:127938810

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358175229

rs_2546127240

1 SubmittersRCV002470228

NM_018941.4(CLN8):c.544-1G>T

SNV
Unknown

Chr8:1780249

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

CA369953799

rs_2486488212

1 SubmittersRCV002488681

NM_000310.4(PPT1):c.234+2T>G

SNV
Unknown

Chr1:40092396

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849487

rs_2523689662

1 SubmittersRCV002488682

NM_001371596.2(MFSD8):c.1390G>A (p.Ala464Thr)

SNV
Germline

Chr4:127920797

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA3077229

rs_779648626

1 SubmittersRCV003074828

NM_000310.4(PPT1):c.330T>G (p.Asn110Lys)

SNV
Germline

Chr1:40092077

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849024

rs_1320425016

1 SubmittersRCV003077656

NM_000391.4(TPP1):c.646G>A (p.Val216Met)

SNV
Germline

Chr11:6617016

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379475390

rs_1344527425

3 SubmittersRCV005050723 RCV003230767 RCV003069412

NM_017882.3(CLN6):c.814C>G (p.Leu272Val)

SNV
Germline

Chr15:68208262

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
not specified

Criteria Provided
Conflicting Classifications

CA392971883

rs_755397770

3 SubmittersRCV003087401 RCV005010980 RCV004700939

NM_018941.4(CLN8):c.782T>C (p.Val261Ala)

SNV
Germline

Chr8:1780488

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA369954313

rs_1310195190

2 SubmittersRCV003087898 RCV003883879

NM_001371596.2(MFSD8):c.154+1G>A

SNV
Germline

Chr4:127957500

Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA358164942

rs_1578986310

2 SubmittersRCV003079055 RCV004771529

NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)

SNV
Germline

Chr8:1771125

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952817

rs_762079123

1 SubmittersRCV003078046

NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)

SNV
Germline

Chr8:1771213

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA4599218

rs_780551031

1 SubmittersRCV003082535

NM_001371596.2(MFSD8):c.1350+1G>A

SNV
Germline

Chr4:127921523

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358170886

rs_1736332603

1 SubmittersRCV002611757

NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)

SNV
Germline

Chr16:28489386

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7981045

rs_781617143

2 SubmittersRCV002644413 RCV003465993

NM_000310.4(PPT1):c.533A>T (p.Glu178Val)

SNV
Germline

Chr1:40089413

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339848482

rs_774831480

2 SubmittersRCV002630060

NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)

SNV
Germline

Chr16:28486473

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395345500

rs_2141712529

2 SubmittersRCV003112008 RCV003466009

NM_017882.3(CLN6):c.723G>C (p.Met241Ile)

SNV
Germline

Chr15:68208353

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA272382849

rs_149262877

3 SubmittersRCV003110441 RCV003162121 RCV003992743

NM_001042432.2(CLN3):c.534-1G>C

SNV
Germline

Chr16:28486491

Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395345583

rs_2506483378

2 SubmittersRCV003104286 RCV005021783

NM_001371596.2(MFSD8):c.1102+1G>A

SNV
Germline

Chr4:127921859

Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358171597

rs_2546048023

2 SubmittersRCV002571701 RCV003146578

NM_001042432.2(CLN3):c.1197+1G>A

SNV
Germline

Chr16:28477736

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395342492

rs_2506416678

3 SubmittersRCV002596568 RCV003465786

NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)

SNV
Germline

Chr8:1780316

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953952

rs_104894060

1 SubmittersRCV002594682

NM_006493.4(CLN5):c.339+1G>A

SNV
Germline

Chr13:76995229

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388308448

rs_2501136089

1 SubmittersRCV002635835

NM_001042432.2(CLN3):c.1057-1G>A

SNV
Germline

Chr16:28477878

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395343195

rs_2506419122

1 SubmittersRCV002635544

NM_017882.3(CLN6):c.542+2T>C

SNV
Germline

Chr15:68211261

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973079

rs_2505407519

1 SubmittersRCV002643509

NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr8:1780472

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369954282

rs_386834138

1 SubmittersRCV002695903

NM_000310.4(PPT1):c.326A>G (p.Tyr109Cys)

SNV
Germline

Chr1:40092081

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339849041

rs_1228395356

2 SubmittersRCV002717020

NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)

SNV
Germline

Chr15:68208249

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA392971843

rs_2505401392

2 SubmittersRCV002800775 RCV005002887

NM_001371596.2(MFSD8):c.600G>A (p.Trp200Ter)

SNV
Germline

Chr4:127939951

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358175511

rs_2546138613

2 SubmittersRCV002790903

NM_001909.5(CTSD):c.169C>T (p.Gln57Ter)

SNV
Germline

Chr11:1761368

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379099592

rs_1466648123

1 SubmittersRCV002824407

NM_000310.4(PPT1):c.726+2T>G

SNV
Germline

Chr1:40078558

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846531

rs_1398080802

1 SubmittersRCV002791908

NM_001371596.2(MFSD8):c.291G>A (p.Trp97Ter)

SNV
Germline

Chr4:127943900

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358176956

rs_796052749

1 SubmittersRCV002824884

NM_001371596.2(MFSD8):c.199-1G>A

SNV
Germline

Chr4:127943993

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358177211

rs_1449062348

1 SubmittersRCV002846590

NM_001042432.2(CLN3):c.791-2A>G

SNV
Germline

Chr16:28482674

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344680

rs_2506455682

1 SubmittersRCV002861758

NM_002087.4(GRN):c.1179+1G>C

SNV
Germline

Chr17:44351796

Pathogenic

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

Criteria Provided
Single Submitter

CA399766655

rs_2510057446

1 SubmittersRCV002833411

NM_001909.5(CTSD):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr11:1757370

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379095917

rs_2493823481

1 SubmittersRCV002829096

NM_000310.4(PPT1):c.722C>A (p.Ser241Ter)

SNV
Germline

Chr1:40078564

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846561

rs_746043871

1 SubmittersRCV002829181

NM_001371596.2(MFSD8):c.974T>G (p.Leu325Ter)

SNV
Germline

Chr4:127930707

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358173570

rs_2546083130

1 SubmittersRCV002843511

NM_000310.4(PPT1):c.775C>T (p.Gln259Ter)

SNV
Germline

Chr1:40076865

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846400

rs_2523631229

1 SubmittersRCV002852528

NM_000310.4(PPT1):c.748G>A (p.Gly250Ser)

SNV
Germline

Chr1:40076892

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846460

rs_1648657739

1 SubmittersRCV002889598

NM_001371596.2(MFSD8):c.439+2T>A

SNV
Germline

Chr4:127943750

Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA358176644

rs_2546165318

2 SubmittersRCV002894226 RCV005616496

NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)

SNV
Germline

Chr16:28486472

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Juvenile neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA395345494

rs_2506483030

3 SubmittersRCV002881369 RCV003465858 RCV005616500

NM_001909.5(CTSD):c.68+1G>A

SNV
Germline

Chr11:1763791

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379100778

rs_2493834457

1 SubmittersRCV002895724

NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter)

SNV
Germline

Chr4:127921891

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358171779

rs_2546048314

1 SubmittersRCV002872750

NM_000310.4(PPT1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr1:40097238

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339850882

rs_1085307087

2 SubmittersRCV002877470

NM_006493.4(CLN5):c.687C>G (p.Tyr229Ter)

SNV
Germline

Chr13:77000579

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388312078

rs_778480440

1 SubmittersRCV002877424

NM_018941.4(CLN8):c.71G>A (p.Arg24His)

SNV
Germline

Chr8:1771125

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA4599188

rs_762079123

2 SubmittersRCV002938528 RCV003331405

NM_001371596.2(MFSD8):c.1102+2T>C

SNV
Germline

Chr4:127921858

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358171590

rs_1312200609

2 SubmittersRCV002954176 RCV003313296

NM_001042432.2(CLN3):c.460+2T>G

SNV
Germline

Chr16:28487454

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395345758

rs_2506491466

1 SubmittersRCV003009773

NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)

SNV
Germline

Chr15:68214368

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392974477

rs_2505414959

1 SubmittersRCV002999989

NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)

SNV
Germline

Chr16:28482194

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344229

rs_2506449645

1 SubmittersRCV002994396

NM_006493.4(CLN5):c.786C>G (p.Tyr262Ter)

SNV
Germline

Chr13:77000678

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388313190

rs_2501156184

1 SubmittersRCV003012522

NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)

SNV
Germline

Chr11:1754134

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379094195

rs_1402574017

1 SubmittersRCV003013958

NM_001371596.2(MFSD8):c.1103-2A>T

SNV
Germline

Chr4:127921773

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358171557

rs_2546047421

1 SubmittersRCV003016705

NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)

SNV
Germline

Chr8:1780415

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369954161

rs_746645358

1 SubmittersRCV003014527

NM_001371596.2(MFSD8):c.755-2A>C

SNV
Germline

Chr4:127933095

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358174822

rs_2546094362

1 SubmittersRCV002996751

NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)

SNV
Germline

Chr15:68211295

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973176

rs_2505407693

1 SubmittersRCV003022019

NM_001371596.2(MFSD8):c.1A>G (p.Met1Val)

SNV
Germline

Chr4:127965133

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358166009

rs_1553957829

1 SubmittersRCV003029418

NM_001371596.2(MFSD8):c.198+1G>A

SNV
Germline

Chr4:127949803

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA3077535

rs_761969307

1 SubmittersRCV003045751

NM_001371596.2(MFSD8):c.150T>C (p.Ser50=)

SNV
Germline

Chr4:127957505

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA441206016

rs_2546240502

2 SubmittersRCV003034647 RCV003491196

NM_006493.4(CLN5):c.242C>A (p.Ser81Ter)

SNV
Germline

Chr13:76995131

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388307951

rs_1290682648

1 SubmittersRCV003037953

NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)

SNV
Germline

Chr11:1757478

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379096151

rs_2493823652

1 SubmittersRCV003022249

NM_000310.4(PPT1):c.434-1G>C

SNV
Germline

Chr1:40089513

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339848785

rs_776987537

1 SubmittersRCV003046689

NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)

SNV
Germline

Chr17:44351774

Pathogenic

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

Criteria Provided
Single Submitter

CA399766505

rs_2044779598

1 SubmittersRCV003035999

NM_001042432.2(CLN3):c.790+1G>A

SNV
Germline

Chr16:28484005

Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395344686

rs_1393064503

2 SubmittersRCV003052339 RCV004572695

NM_006493.4(CLN5):c.339+1G>T

SNV
Germline

Chr13:76995229

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388308452

rs_2501136089

1 SubmittersRCV003044214

NM_018941.4(CLN8):c.544-6A>T

SNV
Germline

Chr8:1780244

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA579552642

rs_200435861

2 SubmittersRCV002831535 RCV003777829

NM_000391.4(TPP1):c.1425+1G>A

SNV
Germline

Chr11:6615170

Likely pathogenic

Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379472507

rs_1855559040

2 SubmittersRCV003131758 RCV005051267

NM_001371596.2(MFSD8):c.68G>A (p.Trp23Ter)

SNV
Germline

Chr4:127957587

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358165306

rs_2546241222

1 SubmittersRCV003226083

NM_000391.4(TPP1):c.230-2A>G

SNV
Germline

Chr11:6617778

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379476628

rs_2493800555

1 SubmittersRCV003226105

NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)

SNV
Germline

Chr7:66638331

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA367696284

rs_2116773941

1 SubmittersRCV003226609

NM_006493.4(CLN5):c.172A>T (p.Lys58Ter)

SNV
Germline

Chr13:76992270

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA388306950

rs_1280128886

2 SubmittersRCV003236022 RCV005102475

NM_003793.4(CTSF):c.965-1G>A

SNV
Unknown

Chr11:66565752

Likely pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

CA224080504

rs_1051519244

1 SubmittersRCV003314379

NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)

SNV
Germline

Chr8:1771501

Pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

CA369953587

rs_758707781

1 SubmittersRCV003388644

NM_006493.4(CLN5):c.350A>C (p.His117Pro)

SNV
Germline

Chr13:76995912

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA388308622

rs_2501139368

1 SubmittersRCV003388909

NM_006493.4(CLN5):c.626A>G (p.Tyr209Cys)

SNV
Germline

Chr13:77000518

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA7007236

rs_762787810

1 SubmittersRCV003388910

NM_006493.4(CLN5):c.525G>A (p.Trp175Ter)

SNV
Germline

Chr13:76996087

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA388309506

rs_2501140694

1 SubmittersRCV003388911

NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)

SNV
Germline

Chr13:76995923

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA388308679

rs_1309552809

1 SubmittersRCV003388912

NM_001042432.2(CLN3):c.838-3C>G

SNV
Germline

Chr16:28482548

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA622160668

rs_1437110742

1 SubmittersRCV003388914

NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)

SNV
Germline

Chr8:1780313

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

CA369953944

rs_2486488805

1 SubmittersRCV003388919

NM_000310.4(PPT1):c.335T>C (p.Met112Thr)

SNV
Germline

Chr1:40092072

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849013

rs_2523687692

1 SubmittersRCV003448644

NM_000310.4(PPT1):c.234+2T>C

SNV
Unknown

Chr1:40092396

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849489

rs_2523689662

1 SubmittersRCV003472516

NM_000310.4(PPT1):c.585T>G (p.Tyr195Ter)

SNV
Unknown

Chr1:40080439

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339847728

rs_2523642484

1 SubmittersRCV003472518

NM_000310.4(PPT1):c.50G>A (p.Trp17Ter)

SNV
Unknown

Chr1:40097189

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339850795

rs_2523709689

1 SubmittersRCV003472521

NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)

SNV
Unknown

Chr16:28482534

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395344507

rs_1064795226

1 SubmittersRCV003468457

NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)

SNV
Unknown

Chr16:28482379

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395344365

rs_2506452028

1 SubmittersRCV003468459

NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)

SNV
Unknown

Chr16:28487664

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395346013

rs_755330966

1 SubmittersRCV003468462

NM_001042432.2(CLN3):c.125+2T>C

SNV
Unknown

Chr16:28491480

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

CA395346843

rs_1452490578

1 SubmittersRCV003468464

NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter)

SNV
Unknown

Chr13:77000519

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA388311497

rs_763980789

1 SubmittersRCV003468469

NM_006493.4(CLN5):c.400G>T (p.Glu134Ter)

SNV
Unknown

Chr13:76995962

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA388308835

rs_2501139693

1 SubmittersRCV003468473

NM_006493.4(CLN5):c.173+1G>A

SNV
Germline

Chr13:76992272

Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA388306965

rs_1739482158

2 SubmittersRCV003468478 RCV003779162

NM_006493.4(CLN5):c.306G>A (p.Trp102Ter)

SNV
Unknown

Chr13:76995195

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA388308307

rs_2501135864

1 SubmittersRCV003468479

NM_000391.4(TPP1):c.1146-199G>A

SNV
Germline

Chr11:6615761

Pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA2697548400

rs_2493797341

1 SubmittersRCV003486538

NM_000310.4(PPT1):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr1:40092088

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849068

rs_2523687822

1 SubmittersRCV003510552

NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)

SNV
Germline

Chr8:1771584

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953753

rs_2486443393

1 SubmittersRCV003533876

NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)

SNV
Germline

Chr11:1761347

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379099505

rs_539823013

1 SubmittersRCV003533987

NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)

SNV
Germline

Chr15:68211819

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973612

rs_765719755

1 SubmittersRCV003533894

NM_006493.4(CLN5):c.989G>A (p.Trp330Ter)

SNV
Germline

Chr13:77000881

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388314655

rs_2501157791

1 SubmittersRCV003533899

NM_001909.5(CTSD):c.704+1G>T

SNV
Germline

Chr11:1757323

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379095809

rs_760929484

1 SubmittersRCV003533943

NM_001042432.2(CLN3):c.790+1G>T

SNV
Germline

Chr16:28484005

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344685

rs_1393064503

1 SubmittersRCV003534000

NM_001042432.2(CLN3):c.1056+1G>A

SNV
Germline

Chr16:28482104

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395343884

rs_1217725909

1 SubmittersRCV003534072

NM_001371596.2(MFSD8):c.998+1G>C

SNV
Germline

Chr4:127930682

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358173441

rs_1553946656

1 SubmittersRCV003496477

NM_001371596.2(MFSD8):c.863+1G>C

SNV
Germline

Chr4:127932984

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358174581

rs_200319160

1 SubmittersRCV003494653

NM_001371596.2(MFSD8):c.2T>C (p.Met1Thr)

SNV
Germline

Chr4:127965132

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358166003

rs_2149009008

1 SubmittersRCV003494654

NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)

SNV
Germline

Chr15:68211735

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973431

rs_768766915

1 SubmittersRCV003531570

NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter)

SNV
Germline

Chr13:77000660

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388313029

rs_2501156038

1 SubmittersRCV003531673

NM_001371596.2(MFSD8):c.998+2T>G

SNV
Germline

Chr4:127930681

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358173438

rs_780499761

1 SubmittersRCV003494901

NM_000310.4(PPT1):c.125-2A>T

SNV
Germline

Chr1:40092509

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339850273

rs_386833630

1 SubmittersRCV003511454

NM_018941.4(CLN8):c.1A>T (p.Met1Leu)

SNV
Germline

Chr8:1771055

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952679

rs_143730802

1 SubmittersRCV003531753

NM_001371596.2(MFSD8):c.755-1G>A

SNV
Germline

Chr4:127933094

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358174819

rs_2546094359

1 SubmittersRCV003495688

NM_001909.5(CTSD):c.828-2A>C

SNV
Germline

Chr11:1754140

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379094229

rs_2493817237

1 SubmittersRCV003531821

NM_001042432.2(CLN3):c.222+1G>A

SNV
Germline

Chr16:28489289

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395346378

rs_2506507383

1 SubmittersRCV003531822

NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)

SNV
Germline

Chr8:1780333

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953982

rs_2486489059

1 SubmittersRCV003531840

NM_000310.4(PPT1):c.628-2A>T

SNV
Germline

Chr1:40078660

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339846993

rs_2124472385

1 SubmittersRCV003510217

NM_001042432.2(CLN3):c.3G>A (p.Met1Ile)

SNV
Germline

Chr16:28491757

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395347587

rs_2506530720

1 SubmittersRCV003648137

NM_000310.4(PPT1):c.326A>C (p.Tyr109Ser)

SNV
Germline

Chr1:40092081

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849042

rs_1228395356

1 SubmittersRCV003619965

NM_006493.4(CLN5):c.636G>A (p.Trp212Ter)

SNV
Germline

Chr13:77000528

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388311567

rs_2501155018

1 SubmittersRCV003648196

NM_000310.4(PPT1):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr1:40092091

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849081

rs_2523687837

1 SubmittersRCV003619909

NM_000391.4(TPP1):c.649G>A (p.Gly217Ser)

SNV
Germline

Chr11:6617013

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475384

rs_1330875156

2 SubmittersRCV003679375 RCV005609025

NM_001371596.2(MFSD8):c.699-2A>G

SNV
Germline

Chr4:127938840

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358175294

rs_2546127671

1 SubmittersRCV003601545

NM_000310.4(PPT1):c.637G>T (p.Glu213Ter)

SNV
Germline

Chr1:40078649

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339846946

rs_2523635810

2 SubmittersRCV003620765

NM_017882.3(CLN6):c.487-1G>T

SNV
Germline

Chr15:68211319

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973240

rs_2093204407

1 SubmittersRCV003648264

NM_017882.3(CLN6):c.1A>C (p.Met1Leu)

SNV
Germline

Chr15:68229584

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392978407

rs_1555440206

1 SubmittersRCV003648265

NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)

SNV
Germline

Chr8:1771431

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953436

rs_2486441460

1 SubmittersRCV003648286

NM_001042432.2(CLN3):c.837+1G>T

SNV
Germline

Chr16:28482625

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395344575

rs_2506455024

1 SubmittersRCV003648306

NM_001371596.2(MFSD8):c.900G>A (p.Trp300Ter)

SNV
Germline

Chr4:127930781

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358174021

rs_2546083610

1 SubmittersRCV003602170

NM_001371596.2(MFSD8):c.2T>A (p.Met1Lys)

SNV
Germline

Chr4:127965132

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358166000

rs_2149009008

1 SubmittersRCV003602100

NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)

SNV
Germline

Chr15:68209701

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392972912

rs_587780316

1 SubmittersRCV003648401

NM_006493.4(CLN5):c.529G>T (p.Glu177Ter)

SNV
Germline

Chr13:76996091

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388309518

rs_2501140759

1 SubmittersRCV003648418

NM_001042432.2(CLN3):c.47-2A>T

SNV
Germline

Chr16:28491562

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395347182

rs_2506527617

1 SubmittersRCV003648447

NM_001042432.2(CLN3):c.461-2A>G

SNV
Germline

Chr16:28486652

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA395345756

rs_2506485402

1 SubmittersRCV003648501

NM_000310.4(PPT1):c.235-1G>A

SNV
Germline

Chr1:40092173

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849432

rs_2124487981

1 SubmittersRCV003621297

NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr11:1755015

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379095491

rs_2493820472

1 SubmittersRCV003648452

NM_001909.5(CTSD):c.972+1G>C

SNV
Germline

Chr11:1753993

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379093475

rs_2493816828

1 SubmittersRCV003648606

NM_001909.5(CTSD):c.69-1G>A

SNV
Germline

Chr11:1761469

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379100177

rs_2493830143

1 SubmittersRCV003648820

NM_001371596.2(MFSD8):c.864-2A>G

SNV
Germline

Chr4:127930819

Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358174229

rs_2546084011

2 SubmittersRCV003600303 RCV004701799

NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)

SNV
Germline

Chr15:68218566

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392975565

rs_1477757203

1 SubmittersRCV003649018

NM_002087.4(GRN):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr17:44350266

Pathogenic

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

Criteria Provided
Single Submitter

CA399762798

rs_2510055303

1 SubmittersRCV003783718

NM_002087.4(GRN):c.1179+3A>G

SNV
Germline

Chr17:44351798

Pathogenic

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

Criteria Provided
Single Submitter

CA2695226236

rs_2510057451

1 SubmittersRCV003781416

NM_002087.4(GRN):c.5G>A (p.Trp2Ter)

SNV
Germline

Chr17:44349169

Pathogenic

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

Criteria Provided
Single Submitter

CA399758978

rs_2510054161

1 SubmittersRCV003789585

NM_002087.4(GRN):c.265-2A>T

SNV
Germline

Chr17:44349665

Likely pathogenic

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

Criteria Provided
Single Submitter

CA399760283

rs_2510054675

1 SubmittersRCV003795646

NM_002087.4(GRN):c.1353G>A (p.Pro451=)

SNV
Germline

Chr17:44352188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA500622342

rs_1402302242

2 SubmittersRCV003792923 RCV003886641

NM_006493.4(CLN5):c.340-1G>C

SNV
Germline

Chr13:76995901

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA388308552

rs_2034257020

1 SubmittersRCV003833240

NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)

SNV
Germline

Chr11:1758983

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379097223

rs_1845841728

1 SubmittersRCV003841168

NM_000310.4(PPT1):c.330T>A (p.Asn110Lys)

SNV
Germline

Chr1:40092077

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339849025

rs_1320425016

1 SubmittersRCV003870655

NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr11:66566348

Pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

CA6125490

rs_766762684

1 SubmittersRCV003876821

NM_001371596.2(MFSD8):c.1348C>T (p.Gln450Ter)

SNV
Germline

Chr4:127921526

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

CA358170894

rs_2546046014

1 SubmittersRCV003990181

NM_006493.4(CLN5):c.997C>T (p.Pro333Ser)

SNV
Germline

Chr13:77000889

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

CA7007281

rs_755238050

1 SubmittersRCV003993536

NM_000310.4(PPT1):c.726+2T>C

SNV
Unknown

Chr1:40078558

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

rs_1398080802

1 SubmittersRCV004574618

NM_000310.4(PPT1):c.628-1G>A

SNV
Unknown

Chr1:40078659

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

rs_386833659

1 SubmittersRCV004574619

NM_001042432.2(CLN3):c.677+1G>A

SNV
Unknown

Chr16:28486346

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

rs_1057517287

1 SubmittersRCV004575661

NM_006493.4(CLN5):c.968T>A (p.Leu323Ter)

SNV
Unknown

Chr13:77000860

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

rs_2501157687

1 SubmittersRCV004575663

NM_006493.4(CLN5):c.655G>T (p.Glu219Ter)

SNV
Unknown

Chr13:77000547

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

rs_2501155185

1 SubmittersRCV004575665

NM_006493.4(CLN5):c.339+2T>A

SNV
Germline

Chr13:76995230

Pathogenic

Neuronal ceroid lipofuscinosis 5

No Assertion Criteria Provided

rs_2501136096

1 SubmittersRCV004577969

NM_001371596.2(MFSD8):c.193C>T (p.Gln65Ter)

SNV
Germline

Chr4:127949809

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV004691653

NM_001371596.2(MFSD8):c.847T>G (p.Phe283Val)

SNV
Germline

Chr4:127933001

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV004766573

NM_000310.4(PPT1):c.537-1G>A

SNV
Germline

Chr1:40080488

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

1 SubmittersRCV004776495

NM_003793.4(CTSF):c.971T>C (p.Leu324Ser)

SNV
Germline

Chr11:66565745

Likely pathogenic

Neuronal ceroid lipofuscinosis 13
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV004780045 RCV004798081

NM_001371596.2(MFSD8):c.1367G>A (p.Trp456Ter)

SNV
Germline

Chr4:127920820

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV004818930

NM_017882.3(CLN6):c.543-1G>A

SNV
Germline

Chr15:68209760

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005011887 RCV005112593

NM_000391.4(TPP1):c.916C>T (p.Gln306Ter)

SNV
Germline

Chr11:6616474

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005051087

NM_006493.4(CLN5):c.173+1G>C

SNV
Germline

Chr13:76992272

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV005006983

NM_006493.4(CLN5):c.365T>C (p.Phe122Ser)

SNV
Germline

Chr13:76995927

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV005006984

NM_001909.5(CTSD):c.268C>T (p.Gln90Ter)

SNV
Germline

Chr11:1759600

Likely pathogenic

Neuronal ceroid lipofuscinosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005046640

NM_018941.4(CLN8):c.609C>A (p.Cys203Ter)

SNV
Germline

Chr8:1780315

Likely pathogenic

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV005051599

NM_001371596.2(MFSD8):c.1436G>A (p.Trp479Ter)

SNV
Germline

Chr4:127920751

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005027134

NM_001371596.2(MFSD8):c.1102G>A (p.Asp368Asn)

SNV
Germline

Chr4:127921860

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005037443

NM_001371596.2(MFSD8):c.910C>T (p.Gln304Ter)

SNV
Germline

Chr4:127930771

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005037444

NM_001371596.2(MFSD8):c.698+1G>A

SNV
Germline

Chr4:127939852

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005027135

NM_001371596.2(MFSD8):c.472G>A (p.Gly158Ser)

SNV
Germline

Chr4:127942126

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005037445

NM_001371596.2(MFSD8):c.198+2T>G

SNV
Germline

Chr4:127949802

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005037446

NM_001371596.2(MFSD8):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr4:127965106

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005027136

NM_001371596.2(MFSD8):c.25G>T (p.Glu9Ter)

SNV
Germline

Chr4:127965109

Likely pathogenic

Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005027137

NM_003793.4(CTSF):c.1165+2T>G

SNV
Germline

Chr11:66564885

Likely pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005051083

NM_003793.4(CTSF):c.934C>T (p.Gln312Ter)

SNV
Germline

Chr11:66565861

Likely pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005051085

NM_000391.4(TPP1):c.1075+2T>G

SNV
Germline

Chr11:6616313

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005088594

NM_018941.4(CLN8):c.191G>A (p.Trp64Ter)

SNV
Germline

Chr8:1771245

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005118765

NM_001371596.2(MFSD8):c.719C>G (p.Ser240Ter)

SNV
Germline

Chr4:127938818

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005129328

NM_001909.5(CTSD):c.69-2A>G

SNV
Germline

Chr11:1761470

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005127893

NM_017882.3(CLN6):c.84-2A>G

SNV
Germline

Chr15:68218652

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005125839

NM_001909.5(CTSD):c.704+1G>C

SNV
Germline

Chr11:1757323

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005134091

NM_017882.3(CLN6):c.685C>T (p.Gln229Ter)

SNV
Germline

Chr15:68208391

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005132380

NM_001371596.2(MFSD8):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr4:127933076

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005136031

NM_001042432.2(CLN3):c.548G>A (p.Trp183Ter)

SNV
Germline

Chr16:28486476

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005137610

NM_003793.4(CTSF):c.213+2T>A

SNV
Germline

Chr11:66568272

Likely pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005172912

NM_018941.4(CLN8):c.551G>A (p.Trp184Ter)

SNV
Germline

Chr8:1780257

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005179229

NM_000310.4(PPT1):c.124+1G>T

SNV
Germline

Chr1:40097114

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005182082

NM_001371596.2(MFSD8):c.198+1G>T

SNV
Germline

Chr4:127949803

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005197422

NM_000310.4(PPT1):c.798+1G>A

SNV
Germline

Chr1:40076841

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005201360

NM_000310.4(PPT1):c.18C>A (p.Cys6Ter)

SNV
Germline

Chr1:40097221

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005205904

NM_018941.4(CLN8):c.620T>G (p.Leu207Arg)

SNV
Germline

Chr8:1780326

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005200666 RCV005407411

NM_002087.4(GRN):c.1414-1G>T

SNV
Germline

Chr17:44352340

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005221534

NM_002087.4(GRN):c.1458C>A (p.Tyr486Ter)

SNV
Germline

Chr17:44352385

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005221281

NM_000310.4(PPT1):c.127G>A (p.Asp43Asn)

SNV
Germline

Chr1:40092505

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005235910

NM_001042432.2(CLN3):c.898C>T (p.Gln300Ter)

SNV
Germline

Chr16:28482485

Pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005252589

NM_001042432.2(CLN3):c.678-2A>C

SNV
Germline

Chr16:28484120

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005410137

NM_002087.4(GRN):c.1A>T (p.Met1Leu)

SNV
Germline

Chr17:44349165

Pathogenic

Neuronal ceroid lipofuscinosis 11

No Assertion Criteria Provided

1 SubmittersRCV005414347

NM_017882.3(CLN6):c.297+2T>C

SNV
Germline

Chr15:68214288

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005418857

NM_001042432.2(CLN3):c.549G>A (p.Trp183Ter)

SNV
Germline

Chr16:28486475

Likely pathogenic

Juvenile neuronal ceroid lipofuscinosis

No Assertion Criteria Provided

1 SubmittersRCV005615169

NM_000391.4(TPP1):c.1266+2T>A

SNV
Germline

Chr11:6615440

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

1 SubmittersRCV005606060