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.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	Criteria Provided Multiple Submitters No Conflicts	CA251661	rs_118203977	3 SubmittersRCV000001058 RCV001781154
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	SNV Germline	Chr4:127921639	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251664	rs_267607235	9 SubmittersRCV000001060 RCV002222334 RCV002316184 RCV002496222 RCV003137482
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)	SNV Germline	Chr4:127930800	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 7 Late-infantile neuronal ceroid lipofuscinosis Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339858	rs_140948465	9 SubmittersRCV000001061 RCV001826401 RCV002371752 RCV001781155
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	Criteria Provided Conflicting Classifications	CA252327	rs_28940280	4 SubmittersRCV000002675 RCV000989152
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	7 SubmittersRCV000002676 RCV000698933 RCV003128567
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)	SNV Germline	Chr13:77000799	Pathogenic/Likely 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	6 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 Hereditary nonpolyposis colon cancer TPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252376	rs_119455953	5 SubmittersRCV000002760 RCV001248011 RCV004579515 RCV004525840 RCV004554579
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	SNV Germline	Chr11:6616056	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA252377	rs_119455954	10 SubmittersRCV000002761 RCV000189781 RCV000526403 RCV002496238
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	SNV Germline	Chr11:6617040	Pathogenic	Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Condition: not provided Neuronal ceroid lipofuscinosis 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	29 SubmittersRCV000002762 RCV000210605 RCV000189769 RCV000230952 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 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 TPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA145458	rs_56144125	35 SubmittersRCV000002763 RCV000074608 RCV000210689 RCV000228119 RCV000189765 RCV000763268 RCV004554581
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	SNV Germline	Chr11:6615256	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252378	rs_119455956	8 SubmittersRCV000002764 RCV000189790
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 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252380	rs_119455957	6 SubmittersRCV000002766 RCV000763266 RCV000531153
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)	SNV Germline	Chr11:6616690	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	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	Criteria Provided Conflicting Classifications	CA252382	rs_755445790	4 SubmittersRCV000002768 RCV000359791
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 Basal cell carcinoma, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA340024	rs_104894064	5 SubmittersRCV000002936 RCV000820654 RCV000409951 RCV004525841
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 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis CLN8-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252418	rs_104894060	9 SubmittersRCV000002938 RCV000763180 RCV000805014 RCV002291264 RCV002225256
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 Neuronal ceroid lipofuscinosis 3 Retinal dystrophy early onset and severe retinal dystrophy Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA116344	rs_121434286	9 SubmittersRCV000003735 RCV000055839 RCV001074385 RCV001270479 RCV000811923 RCV002512720
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	SNV Germline	Chr16:28486427	Pathogenic/Likely 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	7 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	Criteria Provided Multiple Submitters No Conflicts	CA340155	rs_104894483	7 SubmittersRCV000004292 RCV000492979 RCV001067723 RCV002316185
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)	SNV Germline	Chr15:68211793	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA252981	rs_104894484	4 SubmittersRCV000004294 RCV002468959 RCV001851638
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	15 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/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA254584	rs_137852699	9 SubmittersRCV000009454 RCV000188716 RCV002311509
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	SNV Germline	Chr1:40089495	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Neuronal Ceroid-Lipofuscinosis, Recessive Neuronal ceroid lipofuscinosis PPT1-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA316936	rs_137852700	33 SubmittersRCV000009455 RCV000188718 RCV000352109 RCV000583336 RCV003398477 RCV002316187
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	Condition: not provided Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Single Submitter	CA225193	rs_63751006	3 SubmittersRCV000084419 RCV002513073 RCV000017381
NM_002087.4(GRN):c.835+1G>A	SNV Germline	Chr17:44351164	Likely pathogenic	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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	Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA225358	rs_63751294	8 SubmittersRCV001039647 RCV000017387 RCV000084491
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	Conflicting classifications of pathogenicity	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA259851	rs_154774634	6 SubmittersRCV000058911 RCV000675061 RCV001378313 RCV001787031
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_000310.4(PPT1):c.114G>A (p.Trp38Ter)	SNV Not provided	Chr1:40097125	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263458	rs_386833626	1 SubmittersRCV000049553
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys)	SNV Unknown	Chr1:40097125	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA263461	rs_386833626	2 SubmittersRCV000049554
NM_000310.4(PPT1):c.117T>A (p.His39Gln)	SNV Not provided	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 Not provided	Chr1:40092522	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA263471	rs_386833629	1 SubmittersRCV000049588
NM_000310.4(PPT1):c.125-2A>G	SNV Not provided	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 Not provided	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	Criteria Provided Conflicting Classifications	CA263490	rs_386833639	4 SubmittersRCV000049598
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)	SNV Germline	Chr1:40092120	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 not specified	Criteria Provided Conflicting Classifications	CA263493	rs_386833640	5 SubmittersRCV000049599 RCV003230386
NM_000310.4(PPT1):c.310A>T (p.Lys104Ter)	SNV Not provided	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 Not provided	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	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA263506	rs_386833646	8 SubmittersRCV000049605 RCV003226183
NM_000310.4(PPT1):c.455G>A (p.Cys152Tyr)	SNV Not provided	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 Not provided	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/Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	CA263513	rs_386833649	6 SubmittersRCV000049608
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 Not provided	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/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Neuronal ceroid lipofuscinosis See cases	Criteria Provided Multiple Submitters No Conflicts	CA263521	rs_148412181	7 SubmittersRCV000049613 RCV000436288 RCV001526944 RCV004584340
NM_000310.4(PPT1):c.544C>T (p.Gln182Ter)	SNV Not provided	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/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA263526	rs_386833655	7 SubmittersRCV000049615 RCV000731854 RCV003155060 RCV002345360
NM_000310.4(PPT1):c.558G>A (p.Trp186Ter)	SNV Not provided	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 Not provided	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 Not provided	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/Likely 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 Neuronal ceroid lipofuscinosis Spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA263538	rs_386833661	5 SubmittersRCV000049621 RCV001192781 RCV001646987
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	7 SubmittersRCV000049622 RCV001778693 RCV003328554
NM_000310.4(PPT1):c.683T>G (p.Val228Gly)	SNV Not provided	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 Not provided	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 Not provided	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 Not provided	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/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263597	rs_386833695	5 SubmittersRCV000049656 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	Criteria Provided Multiple Submitters No Conflicts	CA263602	rs_386833697	9 SubmittersRCV000049658 RCV000579238 RCV001804785
NM_001042432.2(CLN3):c.1056+3A>C	SNV Germline	Chr16:28482102	Pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263607	rs_386833698	4 SubmittersRCV000049659 RCV000819629
NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)	SNV Not provided	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/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263618	rs_386833701	4 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 Not provided	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 Single Submitter	CA263631	rs_386833706	2 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 Not provided	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 Not provided	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 Not provided	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 Not provided	Chr16:28486651	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263675	rs_386833722	1 SubmittersRCV000049684
NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro)	SNV Not provided	Chr16:28486639	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263676	rs_386833723	1 SubmittersRCV000049685
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter)	SNV Not provided	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 Not provided	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 Not provided	Chr16:28486602	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	No Assertion Criteria Provided	CA263696	rs_386833727	1 SubmittersRCV000049689
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/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263701	rs_386833728	4 SubmittersRCV000049691 RCV001853043
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala)	SNV Not provided	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	Criteria Provided Conflicting Classifications	CA263729	rs_386833738	6 SubmittersRCV000049701 RCV000187036 RCV000625880 RCV001087503 RCV001797616
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)	SNV Germline	Chr16:28482500	Pathogenic/Likely 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 Not provided	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 Not provided	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 Not provided	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 Not provided	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	Criteria Provided Conflicting Classifications	CA263884	rs_104894386	4 SubmittersRCV000049946 RCV000989149
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)	SNV Germline	Chr13:76995175	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263887	rs_386833971	6 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 Not provided	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	Criteria Provided Multiple Submitters No Conflicts	CA263898	rs_386833975	4 SubmittersRCV000049952 RCV000989151
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	5 SubmittersRCV000049954 RCV001853061
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser)	SNV Not provided	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	9 SubmittersRCV000049957 RCV000187071 RCV000818212
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)	SNV Germline	Chr13:77000517	Likely pathogenic	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA263914	rs_386833981	3 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	Criteria Provided Multiple Submitters No Conflicts	CA264159	rs_386834124	7 SubmittersRCV000050117 RCV000464589 RCV000623329
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)	SNV Not provided	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 Not provided	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 Not provided	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	8 SubmittersRCV000050123 RCV001377678 RCV002483067 RCV002514269
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)	SNV Not provided	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 Not provided	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_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	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA266177	rs_121908197	2 SubmittersRCV000059616 RCV001069102
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	3 SubmittersRCV000059619 RCV000541263
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	SNV Germline	Chr11:6615442	Pathogenic	Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Neuronal ceroid lipofuscinosis Condition: not provided Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA266181	rs_121908200	8 SubmittersRCV000059620 RCV000210643 RCV000529451 RCV000189782 RCV001252369
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	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA266183	rs_121908203	2 SubmittersRCV000059622 RCV001854252
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	Criteria Provided Multiple Submitters No Conflicts	CA266184	rs_121908202	8 SubmittersRCV000059623 RCV000800616 RCV002307388
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/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266189	rs_121908205	3 SubmittersRCV000059629 RCV001854254
NM_000391.4(TPP1):c.617G>A (p.Arg206His)	SNV Germline	Chr11:6617045	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA266190	rs_121908209	6 SubmittersRCV000059630 RCV000469057 RCV001200081 RCV002354256
NM_000391.4(TPP1):c.829G>A (p.Val277Met)	SNV Germline	Chr11:6616718	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA266191	rs_121908207	2 SubmittersRCV000059631 RCV001778699
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)	SNV Germline	Chr11:6619387	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided not specified Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220703	rs_138976576	12 SubmittersRCV000674709 RCV000723684 RCV000189797 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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA289080	rs_140349036	10 SubmittersRCV000118657 RCV000343988 RCV002311556 RCV000473376
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)	SNV Germline	Chr16:28484028	Conflicting classifications of pathogenicity	not specified Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Condition: not provided Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221451	rs_145967477	11 SubmittersRCV000186619 RCV000324671 RCV000711257 RCV001027945 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 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA280647	rs_104895127	3 SubmittersRCV000083792 RCV001804836 RCV004542801
NM_002087.4(GRN):c.102C>T (p.Pro34=)	SNV Germline	Chr17:44349266	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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 Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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 Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Multiple Submitters No Conflicts	CA225231	rs_63750411	7 SubmittersRCV000084436 RCV001291777 RCV001387934 RCV000767861
NM_002087.4(GRN):c.421G>A (p.Val141Ile)	SNV Germline	Chr17:44350299	Conflicting classifications of pathogenicity	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA225246	rs_63749853	5 SubmittersRCV000084443 RCV001854474 RCV002326804
NM_002087.4(GRN):c.708+1G>C	SNV Germline	Chr17:44350801	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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 Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Primary progressive aphasia	Criteria Provided Multiple Submitters No Conflicts	CA225270	rs_63750548	5 SubmittersRCV000084453 RCV000704513 RCV000995784 RCV001824019
NM_002087.4(GRN):c.836-1G>C	SNV Germline	Chr17:44351362	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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 Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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 Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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 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 GRN-related disorder	Criteria Provided Conflicting Classifications	CA225301	rs_63750541	10 SubmittersRCV000084468 RCV000706214 RCV001128038 RCV001727569 RCV002381407 RCV004549523
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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA225327	rs_63751180	9 SubmittersRCV000084480 RCV000995559 RCV001390599 RCV002463638
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)	SNV Germline	Chr17:44352088	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 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 Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Inborn genetic diseases GRN-related disorder	Criteria Provided Conflicting Classifications	CA225339	rs_63750775	5 SubmittersRCV000084484 RCV001086557 RCV001122277 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	Criteria Provided Conflicting Classifications	CA267596	rs_587779411	6 SubmittersRCV000087102 RCV000988030
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, Dominant/Recessive Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA288720	rs_146610181	10 SubmittersRCV000116748 RCV000223968 RCV000274494 RCV001081596 RCV001116001 RCV002313869
NM_017882.3(CLN6):c.486+8C>T	SNV Germline	Chr15:68211667	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Agenesis of the corpus callosum with peripheral neuropathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA288745	rs_149692285	14 SubmittersRCV000116759 RCV000228160 RCV000675962 RCV000678439 RCV001258279 RCV002336251
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 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290108	rs_1142183	12 SubmittersRCV000124313 RCV001083119 RCV001117455 RCV000725520 RCV002312824
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)	SNV Germline	Chr16:28477603	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases CLN3-related disorder	Criteria Provided Conflicting Classifications	CA232460	rs_201206239	10 SubmittersRCV000186618 RCV000723896 RCV001084677 RCV001120931 RCV002362755 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 5 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA302986	rs_138611001	16 SubmittersRCV000178274 RCV000603044 RCV000675521 RCV001082459 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	5 SubmittersRCV000124344 RCV000533512 RCV003390812
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)	SNV Germline	Chr15:68229551	Conflicting classifications of pathogenicity	not specified 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 Conflicting Classifications	CA302669	rs_112239768	15 SubmittersRCV000173024 RCV000677327 RCV000675965 RCV000989355 RCV002312552 RCV003224161
NM_001909.5(CTSD):c.912G>A (p.Pro304=)	SNV Germline	Chr11:1754054	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10 not specified Condition: not provided Neuronal ceroid lipofuscinosis CTSD-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232472	rs_140238987	9 SubmittersRCV000262670 RCV000186625 RCV000724427 RCV001082524 RCV003965044 RCV002312558
NM_001909.5(CTSD):c.1071+7G>A	SNV Germline	Chr11:1753796	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 10 CTSD-related disorder	Criteria Provided Conflicting Classifications	CA290528	rs_374010531	5 SubmittersRCV000124626 RCV000475449 RCV001103554 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	2 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 Inborn genetic diseases MFSD8-related disorder	Criteria Provided Conflicting Classifications	CA292090	rs_138072045	5 SubmittersRCV000126764 RCV000864745 RCV002381440 RCV003965055
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	Criteria Provided Conflicting Classifications	CA292094	rs_75039907	5 SubmittersRCV000126766 RCV000462645 RCV001074091 RCV001831924
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	2 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	Criteria Provided Conflicting Classifications	CA175005	rs_150418024	12 SubmittersRCV000149771 RCV000732335 RCV001080724 RCV001272733 RCV002316957 RCV002509247 RCV003917467
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)	SNV Germline	Chr4:127921733	Pathogenic	Macular dystrophy with central cone involvement Neuronal ceroid lipofuscinosis 7 Condition: not provided Late-infantile neuronal ceroid lipofuscinosis Inborn genetic diseases Macular dystrophy with central cone involvement Neuronal ceroid lipofuscinosis 7	Criteria Provided Multiple Submitters No Conflicts	CA175006	rs_724159970	10 SubmittersRCV000149773 RCV000149772 RCV000481423 RCV001276178 RCV002453475 RCV002483295
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 Macular dystrophy with central cone involvement Neuronal ceroid lipofuscinosis 7 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA273061	rs_724159971	7 SubmittersRCV000149777 RCV000256110 RCV000763521 RCV002390318
NM_006493.4(CLN5):c.-146T>C	SNV Germline	Chr13:76991953	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis Inborn genetic diseases CLN5-related disorder	Criteria Provided Conflicting Classifications	CA295605	rs_201615354	10 SubmittersRCV000711260 RCV000778400 RCV000989146 RCV002316962 RCV003398802
NM_000310.4(PPT1):c.541G>A (p.Val181Met)	SNV Germline	Chr1:40080483	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Condition: not provided Retinitis pigmentosa Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274047	rs_148412181	11 SubmittersRCV000169209 RCV002259317 RCV001723740 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/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274113	rs_786204553	4 SubmittersRCV000169269 RCV000524081
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)	SNV Germline	Chr11:6615217	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	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	5 SubmittersRCV000170441 RCV001054069 RCV002321680
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)	SNV Germline	Chr15:68229532	Conflicting classifications of pathogenicity	not specified Ceroid lipofuscinosis, neuronal, 6A Adult neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases CLN6-related disorder	Criteria Provided Conflicting Classifications	CA238907	rs_547125345	7 SubmittersRCV000187111 RCV000515438 RCV000766779 RCV001085594 RCV002313023 RCV003917602
NM_000391.4(TPP1):c.1552-9C>T	SNV Germline	Chr11:6614695	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA240010	rs_369699167	5 SubmittersRCV000724266 RCV001107389
NM_001909.5(CTSD):c.75G>A (p.Pro25=)	SNV Germline	Chr11:1761462	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases CTSD-related disorder	Criteria Provided Conflicting Classifications	CA241445	rs_140563067	5 SubmittersRCV000187304 RCV001078653 RCV002390429 RCV003907574
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 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases Neuronal ceroid lipofuscinosis 1	Criteria Provided Conflicting Classifications	CA241753	rs_373957283	7 SubmittersRCV000632691 RCV000724133 RCV001273351 RCV001838985 RCV002317017 RCV003224189
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 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA243138	rs_142894102	10 SubmittersRCV000625813 RCV000724058 RCV001252359 RCV003235097 RCV002516724
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	Criteria Provided Conflicting Classifications	CA243394	rs_794727507	7 SubmittersRCV000724376 RCV001028014
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.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	5 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	8 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_002087.4(GRN):c.708+1G>A	SNV Germline	Chr17:44350801	Pathogenic/Likely pathogenic	Frontotemporal dementia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11	Criteria Provided Multiple Submitters No Conflicts	CA275539	rs_63749817	7 SubmittersRCV000185615 RCV000503399 RCV000513518 RCV003765160
NM_000310.4(PPT1):c.*6G>A	SNV Germline	Chr1:40074055	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 1 PPT1-related disorder	Criteria Provided Conflicting Classifications	CA292903	rs_113082671	6 SubmittersRCV000127588 RCV000675767 RCV001098457 RCV003955120
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)	SNV Germline	Chr1:40089411	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA316940	rs_560471003	6 SubmittersRCV000188720 RCV000661982 RCV000766627 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	5 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	Neuronal ceroid lipofuscinosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA316954	rs_796052927	3 SubmittersRCV000410251 RCV000188725
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.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	Criteria Provided Conflicting Classifications	CA315948	rs_147750747	6 SubmittersRCV000725884 RCV001086515 RCV002317122
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 Intellectual disability Inborn genetic diseases Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Conflicting Classifications	CA314053	rs_142269885	15 SubmittersRCV000187142 RCV000656837 RCV000677331 RCV001080578 RCV001251946 RCV002314707 RCV003224205
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 Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA314014	rs_144495588	8 SubmittersRCV000187127 RCV000503130 RCV000665564 RCV002336495 RCV004525896
NM_018941.4(CLN8):c.522C>T (p.Cys174=)	SNV Germline	Chr8:1771576	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases CLN8-related disorder	Criteria Provided Conflicting Classifications	CA314002	rs_148417620	5 SubmittersRCV000187122 RCV000729236 RCV001079239 RCV002336494 RCV004539736
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 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 not specified Inborn genetic diseases Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA314020	rs_146579299	10 SubmittersRCV000187129 RCV000768188 RCV001272624 RCV002247602 RCV002408830 RCV001080174
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	Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis 10	Criteria Provided Conflicting Classifications	CA314362	rs_374540411	4 SubmittersRCV000864860 RCV001711476 RCV002314714 RCV003144152
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)	SNV Germline	Chr11:1754982	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA314356	rs_763407972	3 SubmittersRCV000187314 RCV000541141 RCV003330553
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 Neuronal ceroid lipofuscinosis 10 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314312	rs_143517230	4 SubmittersRCV000862792 RCV001108795 RCV001721192 RCV002314713
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)	SNV Germline	Chr11:1761437	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314338	rs_779278368	4 SubmittersRCV000710114 RCV001085708 RCV002317090
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)	SNV Germline	Chr11:1763852	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 10 Inborn genetic diseases CTSD-related disorder	Criteria Provided Conflicting Classifications	CA314348	rs_757712173	9 SubmittersRCV000231366 RCV000727458 RCV000763725 RCV002372146 RCV003967472
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		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 Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319216	rs_748345018	4 SubmittersRCV000189794 RCV001274536 RCV002399705
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)	SNV Germline	Chr11:6614891	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 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 Intellectual disability Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319206	rs_201034755	5 SubmittersRCV000189787 RCV001252368 RCV000764997 RCV002381645
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	Criteria Provided Multiple Submitters No Conflicts	CA319198	rs_750428882	8 SubmittersRCV000189779 RCV001329231 RCV002317664 RCV003401035
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	7 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 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319186	rs_140176031	5 SubmittersRCV000189771 RCV000764999 RCV001274539 RCV002317662
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	Criteria Provided Multiple Submitters No Conflicts	CA319175	rs_56144125	7 SubmittersRCV000189764 RCV000586250 RCV000673911 RCV002336504
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 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Angelman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA319165	rs_756564767	10 SubmittersRCV000189759 RCV000763269 RCV000792396 RCV001004372 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 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA319163	rs_201613668	4 SubmittersRCV000189758 RCV000765000 RCV001274542
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	SNV Germline	Chr11:6617695	Pathogenic	Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA319150	rs_202189057	6 SubmittersRCV000189751 RCV000210549 RCV000984312 RCV002492873
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/Likely 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 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319148	rs_138448968	7 SubmittersRCV000189750 RCV000341505 RCV000765001 RCV002362994
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	not specified Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA319144	rs_142163063	6 SubmittersRCV000189748 RCV000726300 RCV001274548 RCV002314771 RCV003224212
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)	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
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)	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	5 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 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313855	rs_202118652	11 SubmittersRCV000187046 RCV000405110 RCV000514392 RCV001083336 RCV001111453 RCV002314700
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)	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
NM_006493.2(CLN5):c.116C>G (p.Ser39Trp)	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, Dominant/Recessive Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313861	rs_146993892	9 SubmittersRCV000395302 RCV000726511 RCV001082301 RCV001111458 RCV001727624 RCV002317080
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 Condition: not provided Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313912	rs_778982551	6 SubmittersRCV000473058 RCV000726582 RCV001336971 RCV002311261
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	SNV Germline	Chr13:76996010	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA313918	rs_546989392	15 SubmittersRCV000187069 RCV000556663 RCV000613275 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_017882.3(CLN6):c.799G>A (p.Ala267Thr)	SNV Germline	Chr15:68208277	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA313946	rs_374613712	3 SubmittersRCV001704977 RCV002415804 RCV002513989
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 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313943	rs_145247814	5 SubmittersRCV000187081 RCV000725138 RCV001085180 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	Criteria Provided Conflicting Classifications	CA313985	rs_3743088	8 SubmittersRCV000187109 RCV000664477 RCV001082320 RCV001731421 RCV002311263
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	SNV Germline	Chr16:28477577	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis early onset and severe retinal dystrophy	Criteria Provided Conflicting Classifications		rs_796052338	4 SubmittersRCV000673887 RCV001211899 RCV001270478
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)	SNV Germline	Chr16:28482173	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA313722	rs_386833744	5 SubmittersRCV000187016 RCV000504655 RCV000812919 RCV001729444
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	Condition: not provided Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA313711	rs_796052335	4 SubmittersRCV000187013 RCV001729442 RCV002516983
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	4 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 3 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313703	rs_373034150	6 SubmittersRCV000345320 RCV000432571 RCV001119063 RCV001218859 RCV002314697
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)	SNV Germline	Chr16:28488643	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Condition: not provided Progressive myoclonic epilepsy type 3 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313772	rs_137906617	14 SubmittersRCV000300798 RCV000725785 RCV000791120 RCV001086732 RCV001121029 RCV002317078
NM_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	Pathogenic	Neuronal ceroid lipofuscinosis 10	No Assertion Criteria Provided	CA276036	rs_797045137	1 SubmittersRCV000190882
NM_018941.4(CLN8):c.470A>G (p.His157Arg)	SNV Germline	Chr8:1771524	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA277008	rs_149308952	6 SubmittersRCV000192707 RCV001580081 RCV002307439
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)	SNV Germline	Chr8:1771262	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts		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	Criteria Provided Multiple Submitters No Conflicts	CA10581621	rs_878853322	6 SubmittersRCV000225555
NM_000310.4(PPT1):c.707T>A (p.Val236Glu)	SNV Germline	Chr1:40078579	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA10581622	rs_878853324	2 SubmittersRCV000225429
NM_000310.4(PPT1):c.133T>C (p.Cys45Arg)	SNV Germline	Chr1:40092499	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	No Assertion Criteria Provided	CA10581624	rs_878853323	1 SubmittersRCV000225611
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 Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599226	rs_368365607	7 SubmittersRCV000251360 RCV000726178 RCV001082817 RCV001828146 RCV002418085
NM_003793.4(CTSF):c.1046-2A>C	SNV Germline	Chr11:66565008	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 13 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6125323	rs_141915593	4 SubmittersRCV000255055 RCV001063136 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 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5813950	rs_147800688	6 SubmittersRCV000308097 RCV000725129 RCV001084655 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	5 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 Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9969630	rs_189308547	4 SubmittersRCV000277916 RCV000726583 RCV001084367 RCV002317824
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 10 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA5814290	rs_535140505	2 SubmittersRCV000404301 RCV003765791
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 Condition: not provided not specified TPP1-related disorder	Criteria Provided Conflicting Classifications	CA5858594	rs_372564255	6 SubmittersRCV000365676 RCV000726663 RCV000444737 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 Neuronal ceroid lipofuscinosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7980643	rs_377369610	3 SubmittersRCV000330765 RCV000544564 RCV001116002 RCV001707651
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	7 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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5814296	rs_368529527	5 SubmittersRCV000304091 RCV000632764 RCV001711904 RCV002314044
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 not specified Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5	Criteria Provided Conflicting Classifications	CA7007230	rs_772501269	4 SubmittersRCV000277190 RCV000431986 RCV000981024 RCV001113464
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 5 Neuronal ceroid lipofuscinosis not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7007238	rs_751496223	7 SubmittersRCV000332312 RCV001114857 RCV000632739 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	7 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, Recessive Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9969747	rs_746222594	3 SubmittersRCV000385002 RCV001139076 RCV000921975 RCV002328865
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)	SNV Germline	Chr20:63930973	Conflicting classifications of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Condition: not provided	Criteria Provided Conflicting Classifications	CA9969748	rs_772254851	4 SubmittersRCV000290863 RCV001088544 RCV001139077 RCV000726834
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, Dominant/Recessive Neuronal ceroid lipofuscinosis 5	Criteria Provided Conflicting Classifications	CA10644802	rs_553934239	1 SubmittersRCV000403374 RCV001111551
NM_002087.4(GRN):c.393C>T (p.Phe131=)	SNV Germline	Chr17:44350271	Conflicting classifications of pathogenicity	Frontotemporal dementia Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Conflicting Classifications	CA8601872	rs_149180605	2 SubmittersRCV000349606 RCV002056604
NM_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 Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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 Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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/Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts	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	Criteria Provided Single Submitter	CA16040730	rs_1057516447	1 SubmittersRCV000409057
NM_000310.4(PPT1):c.124+2T>A	SNV Unknown	Chr1:40097113	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA16040733	rs_1057517368	1 SubmittersRCV000410017
NM_000310.4(PPT1):c.8C>A (p.Ser3Ter)	SNV Unknown	Chr1:40097231	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	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 Multiple Submitters No Conflicts	CA4599282	rs_756267448	2 SubmittersRCV000410670 RCV001850955
NM_000391.4(TPP1):c.1552-1G>A	SNV Unknown	Chr11:6614687	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	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	Criteria Provided Multiple Submitters No Conflicts	CA16041510	rs_786204553	3 SubmittersRCV000411444 RCV001038809
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)	SNV Germline	Chr11:6615449	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Abnormality of the nervous system	Criteria Provided Multiple Submitters No Conflicts	CA16041512	rs_1057516319	2 SubmittersRCV000411513 RCV001814153
NM_000391.4(TPP1):c.1145+1G>A	SNV Germline	Chr11:6616004	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041513	rs_113019349	2 SubmittersRCV000411197 RCV001378362
NM_000391.4(TPP1):c.687+2T>G	SNV Germline	Chr11:6616973	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Abnormality of the nervous system	Criteria Provided Multiple Submitters No Conflicts	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 Multiple Submitters No Conflicts	CA5858889	rs_752164603	2 SubmittersRCV000411357 RCV003114527
NM_000391.4(TPP1):c.230-1G>C	SNV Unknown	Chr11:6617777	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	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/Likely 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	Criteria Provided Single Submitter	CA16041786	rs_1057516267	1 SubmittersRCV000409352
NM_001042432.2(CLN3):c.906+2T>A	SNV Germline	Chr16:28482475	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 3 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA7980777	rs_771788391	4 SubmittersRCV000410383 RCV000726946 RCV002523852
NM_001042432.2(CLN3):c.791-1G>A	SNV Unknown	Chr16:28482673	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	Criteria Provided Single Submitter	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 Multiple Submitters No Conflicts	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 Multiple Submitters No Conflicts	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	5 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 Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630447	rs_750937323	4 SubmittersRCV000416280 RCV000675067 RCV001865306 RCV002248651
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	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases CLN8-related disorder	Criteria Provided Conflicting Classifications	CA4599279	rs_376910635	6 SubmittersRCV000726643 RCV001081197 RCV002339051 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	Criteria Provided Conflicting Classifications	CA5858785	rs_145966505	4 SubmittersRCV000437106 RCV001375972 RCV002313067
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	not specified Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA7981071	rs_775577824	5 SubmittersRCV000428334 RCV000632694 RCV000675978 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 not specified Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630612	rs_769701646	5 SubmittersRCV000454168 RCV000499595 RCV001379796 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_001042432.2(CLN3):c.460+3G>A	SNV Germline	Chr16:28487453	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis CLN3-related disorder	Criteria Provided Conflicting Classifications	CA7980923	rs_779238243	2 SubmittersRCV000473448 RCV003902648
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)	SNV Germline	Chr4:127920826	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa Retinal dystrophy Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA3077232	rs_559155109	7 SubmittersRCV000480079 RCV000505013 RCV000504782 RCV000505174 RCV000805545 RCV001542748 RCV001805096 RCV002313243
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	Criteria Provided Multiple Submitters No Conflicts	CA16620001	rs_1064796787	2 SubmittersRCV000484435 RCV002525960
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	SNV Germline	Chr16:28477620	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Neuronal ceroid lipofuscinosis Retinal dystrophy Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	CA7980640	rs_139842473	14 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	Criteria Provided Multiple Submitters No Conflicts	CA16620176	rs_1064794233	4 SubmittersRCV000480738 RCV001729612 RCV003532139
NM_001042432.2(CLN3):c.461-3C>G	SNV Germline	Chr16:28486653	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3	Criteria Provided Conflicting Classifications	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 Neuronal ceroid lipofuscinosis 3 Condition: not provided Inborn genetic diseases CLN3-related disorder	Criteria Provided Conflicting Classifications	CA7981009	rs_150348015	6 SubmittersRCV000632734 RCV001729611 RCV001721545 RCV002455909 RCV003902720
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)	SNV Germline	Chr11:66566329	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 13 Inborn genetic diseases CTSF-related disorder	Criteria Provided Conflicting Classifications	CA6125485	rs_148611356	7 SubmittersRCV000487825 RCV001085523 RCV002318587 RCV003932784
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	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA379473210	rs_1131691676	3 SubmittersRCV000494500 RCV001829413 RCV003403142
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)	SNV Germline	Chr4:127943775	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA3077486	rs_749704755	4 SubmittersRCV000496155 RCV002222533
NM_017882.3(CLN6):c.722T>C (p.Met241Thr)	SNV Germline	Chr15:68208354	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9969802	rs_761982169	3 SubmittersRCV000498553 RCV001049122 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.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	5 SubmittersRCV000517994 RCV001218285 RCV003234777
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)	SNV Germline	Chr17:44351688	Pathogenic/Likely pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA399765702	rs_1555611293	4 SubmittersRCV000517776 RCV002527479 RCV004553130
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	Neuronal ceroid lipofuscinosis 5 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA7007121	rs_200348035	4 SubmittersRCV000984156 RCV000521345 RCV001858008
NM_000310.4(PPT1):c.627+1G>T	SNV Germline	Chr1:40080396	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter	CA339847537	rs_1265044710	2 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	Criteria Provided Single Submitter	CA3077461	rs_751696703	1 SubmittersRCV000533734
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)	SNV Germline	Chr15:68211716	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7630608	rs_747229909	2 SubmittersRCV000551912
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	4 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 Neuronal ceroid lipofuscinosis 8	Criteria Provided Multiple Submitters No Conflicts		rs_143730802	2 SubmittersRCV001229215 RCV000677235
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 Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7630628	rs_201095412	4 SubmittersRCV000595470 RCV000678437 RCV001051368
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	Criteria Provided Multiple Submitters No Conflicts	CA358175979	rs_1553950197	3 SubmittersRCV000599516 RCV003600384
NM_001371596.2(MFSD8):c.863+1G>A	SNV Germline	Chr4:127932984	Pathogenic	Late-infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 7 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA105679760	rs_200319160	8 SubmittersRCV000616705 RCV001067482 RCV001783107 RCV002529305
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 1 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA789741	rs_143657539	4 SubmittersRCV000624853 RCV002531879 RCV002282269
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	4 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	Criteria Provided Conflicting Classifications	CA7630488	rs_746753722	4 SubmittersRCV000625854 RCV000799881
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	2 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_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_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		rs_368152533	2 SubmittersRCV000658402 RCV001861696
NM_000310.4(PPT1):c.835C>T (p.Gln279Ter)	SNV Unknown	Chr1:40074147	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter		rs_1553166135	1 SubmittersRCV000666663
NM_000310.4(PPT1):c.799-2A>G	SNV Unknown	Chr1:40074185	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Single Submitter		rs_1553166147	1 SubmittersRCV000668323
NM_000310.4(PPT1):c.363-2A>G	SNV Germline	Chr1:40091401	Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553167430	2 SubmittersRCV000667194
NM_000310.4(PPT1):c.798+2T>C	SNV Germline	Chr1:40076840	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553166337	3 SubmittersRCV000674642
NM_000310.4(PPT1):c.433+1G>A	SNV Germline	Chr1:40091328	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553167415	3 SubmittersRCV000673308
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)	SNV Germline	Chr8:1780469	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts		rs_746397087	2 SubmittersRCV000674890 RCV002544675
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)	SNV Germline	Chr8:1771337	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts		rs_759830733	2 SubmittersRCV000670971 RCV001868250
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)	SNV Unknown	Chr8:1771360	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	Criteria Provided Single Submitter		rs_1554449124	1 SubmittersRCV000666024
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)	SNV Germline	Chr8:1771452	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts		rs_554042394	2 SubmittersRCV000674248 RCV001381243
NM_018941.4(CLN8):c.544-2A>G	SNV Unknown	Chr8:1780248	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	Criteria Provided Single Submitter		rs_1554451484	1 SubmittersRCV000668307
NM_018941.4(CLN8):c.2T>C (p.Met1Thr)	SNV Unknown	Chr8:1771056	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	Criteria Provided Single Submitter		rs_1554448874	1 SubmittersRCV000671294
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)	SNV Germline	Chr8:1771280	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1554449047	2 SubmittersRCV000672400 RCV002532124
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)	SNV Germline	Chr8:1771366	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1554449136	2 SubmittersRCV000672329 RCV001855577
NM_018941.4(CLN8):c.611G>A (p.Arg204His)	SNV Germline	Chr8:1780317	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications		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 Neuronal ceroid lipofuscinosis Condition: not provided Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts		rs_1184563885	6 SubmittersRCV000666347 RCV001526988 RCV001386654 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	Criteria Provided Conflicting Classifications		rs_368709098	6 SubmittersRCV000668623 RCV001215564 RCV001644760
NM_000391.4(TPP1):c.1076-1G>A	SNV Germline	Chr11:6616075	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554901731	2 SubmittersRCV000666279 RCV001208874
NM_000391.4(TPP1):c.1076-2A>T	SNV Germline	Chr11:6616076	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		rs_1424116749	3 SubmittersRCV000667649 RCV001379383 RCV003230565
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	SNV Germline	Chr11:6616342	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications		rs_1554901784	5 SubmittersRCV000668234 RCV001058281 RCV003117472
NM_000391.4(TPP1):c.17+1G>A	SNV Germline	Chr11:6619383	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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	Criteria Provided Multiple Submitters No Conflicts		rs_786204553	2 SubmittersRCV000674411 RCV003558528
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)	SNV Germline	Chr13:76992175	Pathogenic	Neuronal ceroid lipofuscinosis 5	Criteria Provided Multiple Submitters No Conflicts		rs_764790770	3 SubmittersRCV000668838
NM_006493.2(CLN5):c.1A>C (p.Met1Leu)	SNV Germline	Chr13:76991952	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1268502139	4 SubmittersRCV000670614 RCV001438116 RCV002422455
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	SNV Germline	Chr15:68218550	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications		rs_1451777867	3 SubmittersRCV000670264 RCV000689116
NM_017882.3(CLN6):c.486+1G>A	SNV Germline	Chr15:68211674	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Inborn genetic diseases Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Multiple Submitters No Conflicts		rs_756522171	4 SubmittersRCV000671252 RCV002317912 RCV001868252 RCV002499177
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)	SNV Germline	Chr15:68208239	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1555438212	2 SubmittersRCV000672314 RCV002532122
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)	SNV Germline	Chr15:68209759	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts		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		rs_386833708	3 SubmittersRCV000664968 RCV001868197 RCV003420170
NM_001042432.2(CLN3):c.963-2A>C	SNV Unknown	Chr16:28482200	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	Criteria Provided Single Submitter		rs_1418997146	1 SubmittersRCV000664643
NM_001042432.2(CLN3):c.295-2A>C	SNV Unknown	Chr16:28487743	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	Criteria Provided Single Submitter		rs_1478660606	1 SubmittersRCV000672581
NM_006493.4(CLN5):c.565+1G>A	SNV Unknown	Chr13:76996128	Likely pathogenic	Neuronal ceroid lipofuscinosis 5	Criteria Provided Single Submitter		rs_1555274014	1 SubmittersRCV000670302
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter)	SNV Unknown	Chr16:28477818	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	Criteria Provided Single Submitter		rs_142456044	1 SubmittersRCV000665318
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	SNV Germline	Chr15:68208180	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts		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	Criteria Provided Single Submitter		rs_1555469089	1 SubmittersRCV000667804
NM_001042432.2(CLN3):c.47-1G>A	SNV Germline	Chr16:28491561	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 3 Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications		rs_1555469477	4 SubmittersRCV000670278 RCV000778462
NM_001042432.2(CLN3):c.46+1G>C	SNV Unknown	Chr16:28491713	Likely pathogenic	Neuronal ceroid lipofuscinosis 3	Criteria Provided Single Submitter		rs_1057516343	1 SubmittersRCV000674867
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		rs_764571295	7 SubmittersRCV000678441 RCV001861858

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251661

rs_118203977

3 SubmittersRCV000001058 RCV001781154

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

SNV
Germline

Chr4:127921639

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251664

rs_267607235

9 SubmittersRCV000001060 RCV002222334 RCV002316184 RCV002496222 RCV003137482

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

SNV
Germline

Chr4:127930800

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339858

rs_140948465

9 SubmittersRCV000001061 RCV001826401 RCV002371752 RCV001781155

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

Criteria Provided
Conflicting Classifications

CA252327

rs_28940280

4 SubmittersRCV000002675 RCV000989152

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

7 SubmittersRCV000002676 RCV000698933 RCV003128567

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

SNV
Germline

Chr13:77000799

Pathogenic/Likely 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

6 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
Hereditary nonpolyposis colon cancer
TPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252376

rs_119455953

5 SubmittersRCV000002760 RCV001248011 RCV004579515 RCV004525840 RCV004554579

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

SNV
Germline

Chr11:6616056

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252377

rs_119455954

10 SubmittersRCV000002761 RCV000189781 RCV000526403 RCV002496238

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

SNV
Germline

Chr11:6617040

Pathogenic

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

29 SubmittersRCV000002762 RCV000210605 RCV000189769 RCV000230952 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
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
TPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA145458

rs_56144125

35 SubmittersRCV000002763 RCV000074608 RCV000210689 RCV000228119 RCV000189765 RCV000763268 RCV004554581

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

SNV
Germline

Chr11:6615256

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252378

rs_119455956

8 SubmittersRCV000002764 RCV000189790

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252380

rs_119455957

6 SubmittersRCV000002766 RCV000763266 RCV000531153

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

SNV
Germline

Chr11:6616690

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Conflicting Classifications

CA252382

rs_755445790

4 SubmittersRCV000002768 RCV000359791

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
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA340024

rs_104894064

5 SubmittersRCV000002936 RCV000820654 RCV000409951 RCV004525841

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252418

rs_104894060

9 SubmittersRCV000002938 RCV000763180 RCV000805014 RCV002291264 RCV002225256

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
Neuronal ceroid lipofuscinosis 3
Retinal dystrophy
early onset and severe retinal dystrophy
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA116344

rs_121434286

9 SubmittersRCV000003735 RCV000055839 RCV001074385 RCV001270479 RCV000811923 RCV002512720

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

SNV
Germline

Chr16:28486427

Pathogenic/Likely 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

7 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

Criteria Provided
Multiple Submitters
No Conflicts

CA340155

rs_104894483

7 SubmittersRCV000004292 RCV000492979 RCV001067723 RCV002316185

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

SNV
Germline

Chr15:68211793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA252981

rs_104894484

4 SubmittersRCV000004294 RCV002468959 RCV001851638

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

15 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/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA254584

rs_137852699

9 SubmittersRCV000009454 RCV000188716 RCV002311509

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

SNV
Germline

Chr1:40089495

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA316936

rs_137852700

33 SubmittersRCV000009455 RCV000188718 RCV000352109 RCV000583336 RCV003398477 RCV002316187

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

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

Criteria Provided
Single Submitter

CA225193

rs_63751006

3 SubmittersRCV000084419 RCV002513073 RCV000017381

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

SNV
Germline

Chr17:44351164

Likely pathogenic

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225358

rs_63751294

8 SubmittersRCV001039647 RCV000017387 RCV000084491

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA259851

rs_154774634

6 SubmittersRCV000058911 RCV000675061 RCV001378313 RCV001787031

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_000310.4(PPT1):c.114G>A (p.Trp38Ter)

SNV
Not provided

Chr1:40097125

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263458

rs_386833626

1 SubmittersRCV000049553

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

SNV
Unknown

Chr1:40097125

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA263461

rs_386833626

2 SubmittersRCV000049554

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

SNV
Not provided

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
Not provided

Chr1:40092522

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA263471

rs_386833629

1 SubmittersRCV000049588

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

SNV
Not provided

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
Not provided

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

Criteria Provided
Conflicting Classifications

CA263490

rs_386833639

4 SubmittersRCV000049598

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

SNV
Germline

Chr1:40092120

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
not specified

Criteria Provided
Conflicting Classifications

CA263493

rs_386833640

5 SubmittersRCV000049599 RCV003230386

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

SNV
Not provided

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
Not provided

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

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA263506

rs_386833646

8 SubmittersRCV000049605 RCV003226183

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

SNV
Not provided

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
Not provided

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/Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA263513

rs_386833649

6 SubmittersRCV000049608

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
Not provided

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263521

rs_148412181

7 SubmittersRCV000049613 RCV000436288 RCV001526944 RCV004584340

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

SNV
Not provided

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263526

rs_386833655

7 SubmittersRCV000049615 RCV000731854 RCV003155060 RCV002345360

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

SNV
Not provided

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
Not provided

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
Not provided

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/Likely 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
Neuronal ceroid lipofuscinosis
Spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA263538

rs_386833661

5 SubmittersRCV000049621 RCV001192781 RCV001646987

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

7 SubmittersRCV000049622 RCV001778693 RCV003328554

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

SNV
Not provided

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
Not provided

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
Not provided

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
Not provided

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/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263597

rs_386833695

5 SubmittersRCV000049656 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

Criteria Provided
Multiple Submitters
No Conflicts

CA263602

rs_386833697

9 SubmittersRCV000049658 RCV000579238 RCV001804785

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

SNV
Germline

Chr16:28482102

Pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263607

rs_386833698

4 SubmittersRCV000049659 RCV000819629

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

SNV
Not provided

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/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263618

rs_386833701

4 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
Not provided

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
Single Submitter

CA263631

rs_386833706

2 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
Not provided

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
Not provided

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
Not provided

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
Not provided

Chr16:28486651

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263675

rs_386833722

1 SubmittersRCV000049684

NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro)

SNV
Not provided

Chr16:28486639

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263676

rs_386833723

1 SubmittersRCV000049685

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

SNV
Not provided

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
Not provided

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
Not provided

Chr16:28486602

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

No Assertion Criteria Provided

CA263696

rs_386833727

1 SubmittersRCV000049689

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/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263701

rs_386833728

4 SubmittersRCV000049691 RCV001853043

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

SNV
Not provided

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

Criteria Provided
Conflicting Classifications

CA263729

rs_386833738

6 SubmittersRCV000049701 RCV000187036 RCV000625880 RCV001087503 RCV001797616

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

SNV
Germline

Chr16:28482500

Pathogenic/Likely 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
Not provided

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
Not provided

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
Not provided

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
Not provided

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

Criteria Provided
Conflicting Classifications

CA263884

rs_104894386

4 SubmittersRCV000049946 RCV000989149

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

SNV
Germline

Chr13:76995175

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263887

rs_386833971

6 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
Not provided

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263898

rs_386833975

4 SubmittersRCV000049952 RCV000989151

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

5 SubmittersRCV000049954 RCV001853061

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

SNV
Not provided

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

9 SubmittersRCV000049957 RCV000187071 RCV000818212

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

SNV
Germline

Chr13:77000517

Likely pathogenic

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA263914

rs_386833981

3 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

Criteria Provided
Multiple Submitters
No Conflicts

CA264159

rs_386834124

7 SubmittersRCV000050117 RCV000464589 RCV000623329

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

SNV
Not provided

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
Not provided

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
Not provided

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

8 SubmittersRCV000050123 RCV001377678 RCV002483067 RCV002514269

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

SNV
Not provided

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
Not provided

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_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

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA266177

rs_121908197

2 SubmittersRCV000059616 RCV001069102

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

3 SubmittersRCV000059619 RCV000541263

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

SNV
Germline

Chr11:6615442

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA266181

rs_121908200

8 SubmittersRCV000059620 RCV000210643 RCV000529451 RCV000189782 RCV001252369

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

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA266183

rs_121908203

2 SubmittersRCV000059622 RCV001854252

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

Criteria Provided
Multiple Submitters
No Conflicts

CA266184

rs_121908202

8 SubmittersRCV000059623 RCV000800616 RCV002307388

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/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266189

rs_121908205

3 SubmittersRCV000059629 RCV001854254

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

SNV
Germline

Chr11:6617045

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA266190

rs_121908209

6 SubmittersRCV000059630 RCV000469057 RCV001200081 RCV002354256

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

SNV
Germline

Chr11:6616718

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA266191

rs_121908207

2 SubmittersRCV000059631 RCV001778699

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

SNV
Germline

Chr11:6619387

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220703

rs_138976576

12 SubmittersRCV000674709 RCV000723684 RCV000189797 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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289080

rs_140349036

10 SubmittersRCV000118657 RCV000343988 RCV002311556 RCV000473376

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

SNV
Germline

Chr16:28484028

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221451

rs_145967477

11 SubmittersRCV000186619 RCV000324671 RCV000711257 RCV001027945 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
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA280647

rs_104895127

3 SubmittersRCV000083792 RCV001804836 RCV004542801

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

SNV
Germline

Chr17:44349266

Conflicting classifications of pathogenicity

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225231

rs_63750411

7 SubmittersRCV000084436 RCV001291777 RCV001387934 RCV000767861

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

SNV
Germline

Chr17:44350299

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA225246

rs_63749853

5 SubmittersRCV000084443 RCV001854474 RCV002326804

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

SNV
Germline

Chr17:44350801

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA225270

rs_63750548

5 SubmittersRCV000084453 RCV000704513 RCV000995784 RCV001824019

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

SNV
Germline

Chr17:44351362

Pathogenic

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

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

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

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
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
GRN-related disorder

Criteria Provided
Conflicting Classifications

CA225301

rs_63750541

10 SubmittersRCV000084468 RCV000706214 RCV001128038 RCV001727569 RCV002381407 RCV004549523

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
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA225327

rs_63751180

9 SubmittersRCV000084480 RCV000995559 RCV001390599 RCV002463638

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

SNV
Germline

Chr17:44352088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA225339

rs_63750775

5 SubmittersRCV000084484 RCV001086557 RCV001122277 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

Criteria Provided
Conflicting Classifications

CA267596

rs_587779411

6 SubmittersRCV000087102 RCV000988030

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, Dominant/Recessive
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA288720

rs_146610181

10 SubmittersRCV000116748 RCV000223968 RCV000274494 RCV001081596 RCV001116001 RCV002313869

NM_017882.3(CLN6):c.486+8C>T

SNV
Germline

Chr15:68211667

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Agenesis of the corpus callosum with peripheral neuropathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA288745

rs_149692285

14 SubmittersRCV000116759 RCV000228160 RCV000675962 RCV000678439 RCV001258279 RCV002336251

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

Criteria Provided
Conflicting Classifications

CA290108

rs_1142183

12 SubmittersRCV000124313 RCV001083119 RCV001117455 RCV000725520 RCV002312824

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

SNV
Germline

Chr16:28477603

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA232460

rs_201206239

10 SubmittersRCV000186618 RCV000723896 RCV001084677 RCV001120931 RCV002362755 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 5
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA302986

rs_138611001

16 SubmittersRCV000178274 RCV000603044 RCV000675521 RCV001082459 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

5 SubmittersRCV000124344 RCV000533512 RCV003390812

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

SNV
Germline

Chr15:68229551

Conflicting classifications of pathogenicity

not specified
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
Conflicting Classifications

CA302669

rs_112239768

15 SubmittersRCV000173024 RCV000677327 RCV000675965 RCV000989355 RCV002312552 RCV003224161

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

SNV
Germline

Chr11:1754054

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA232472

rs_140238987

9 SubmittersRCV000262670 RCV000186625 RCV000724427 RCV001082524 RCV003965044 RCV002312558

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

SNV
Germline

Chr11:1753796

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290528

rs_374010531

5 SubmittersRCV000124626 RCV000475449 RCV001103554 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

2 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
Inborn genetic diseases
MFSD8-related disorder

Criteria Provided
Conflicting Classifications

CA292090

rs_138072045

5 SubmittersRCV000126764 RCV000864745 RCV002381440 RCV003965055

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

Criteria Provided
Conflicting Classifications

CA292094

rs_75039907

5 SubmittersRCV000126766 RCV000462645 RCV001074091 RCV001831924

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

2 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

Criteria Provided
Conflicting Classifications

CA175005

rs_150418024

12 SubmittersRCV000149771 RCV000732335 RCV001080724 RCV001272733 RCV002316957 RCV002509247 RCV003917467

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

SNV
Germline

Chr4:127921733

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA175006

rs_724159970

10 SubmittersRCV000149773 RCV000149772 RCV000481423 RCV001276178 RCV002453475 RCV002483295

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
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA273061

rs_724159971

7 SubmittersRCV000149777 RCV000256110 RCV000763521 RCV002390318

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

SNV
Germline

Chr13:76991953

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA295605

rs_201615354

10 SubmittersRCV000711260 RCV000778400 RCV000989146 RCV002316962 RCV003398802

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

SNV
Germline

Chr1:40080483

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274047

rs_148412181

11 SubmittersRCV000169209 RCV002259317 RCV001723740 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/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274113

rs_786204553

4 SubmittersRCV000169269 RCV000524081

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

SNV
Germline

Chr11:6615217

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

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

5 SubmittersRCV000170441 RCV001054069 RCV002321680

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

SNV
Germline

Chr15:68229532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA238907

rs_547125345

7 SubmittersRCV000187111 RCV000515438 RCV000766779 RCV001085594 RCV002313023 RCV003917602

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

SNV
Germline

Chr11:6614695

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA240010

rs_369699167

5 SubmittersRCV000724266 RCV001107389

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

SNV
Germline

Chr11:1761462

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241445

rs_140563067

5 SubmittersRCV000187304 RCV001078653 RCV002390429 RCV003907574

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
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 1

Criteria Provided
Conflicting Classifications

CA241753

rs_373957283

7 SubmittersRCV000632691 RCV000724133 RCV001273351 RCV001838985 RCV002317017 RCV003224189

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
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA243138

rs_142894102

10 SubmittersRCV000625813 RCV000724058 RCV001252359 RCV003235097 RCV002516724

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

Criteria Provided
Conflicting Classifications

CA243394

rs_794727507

7 SubmittersRCV000724376 RCV001028014

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.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

5 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

8 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_002087.4(GRN):c.708+1G>A

SNV
Germline

Chr17:44350801

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275539

rs_63749817

7 SubmittersRCV000185615 RCV000503399 RCV000513518 RCV003765160

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

SNV
Germline

Chr1:40074055

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292903

rs_113082671

6 SubmittersRCV000127588 RCV000675767 RCV001098457 RCV003955120

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

SNV
Germline

Chr1:40089411

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA316940

rs_560471003

6 SubmittersRCV000188720 RCV000661982 RCV000766627 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

5 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

Neuronal ceroid lipofuscinosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA316954

rs_796052927

3 SubmittersRCV000410251 RCV000188725

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.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

Criteria Provided
Conflicting Classifications

CA315948

rs_147750747

6 SubmittersRCV000725884 RCV001086515 RCV002317122

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

Criteria Provided
Conflicting Classifications

CA314053

rs_142269885

15 SubmittersRCV000187142 RCV000656837 RCV000677331 RCV001080578 RCV001251946 RCV002314707 RCV003224205

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
Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA314014

rs_144495588

8 SubmittersRCV000187127 RCV000503130 RCV000665564 RCV002336495 RCV004525896

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

SNV
Germline

Chr8:1771576

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA314002

rs_148417620

5 SubmittersRCV000187122 RCV000729236 RCV001079239 RCV002336494 RCV004539736

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

Criteria Provided
Conflicting Classifications

CA314020

rs_146579299

10 SubmittersRCV000187129 RCV000768188 RCV001272624 RCV002247602 RCV002408830 RCV001080174

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

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

Criteria Provided
Conflicting Classifications

CA314362

rs_374540411

4 SubmittersRCV000864860 RCV001711476 RCV002314714 RCV003144152

NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)

SNV
Germline

Chr11:1754982

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA314356

rs_763407972

3 SubmittersRCV000187314 RCV000541141 RCV003330553

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
Neuronal ceroid lipofuscinosis 10
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314312

rs_143517230

4 SubmittersRCV000862792 RCV001108795 RCV001721192 RCV002314713

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

SNV
Germline

Chr11:1761437

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314338

rs_779278368

4 SubmittersRCV000710114 RCV001085708 RCV002317090

NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)

SNV
Germline

Chr11:1763852

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA314348

rs_757712173

9 SubmittersRCV000231366 RCV000727458 RCV000763725 RCV002372146 RCV003967472

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

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
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319216

rs_748345018

4 SubmittersRCV000189794 RCV001274536 RCV002399705

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

SNV
Germline

Chr11:6614891

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA319206

rs_201034755

5 SubmittersRCV000189787 RCV001252368 RCV000764997 RCV002381645

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

Criteria Provided
Multiple Submitters
No Conflicts

CA319198

rs_750428882

8 SubmittersRCV000189779 RCV001329231 RCV002317664 RCV003401035

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

7 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
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319186

rs_140176031

5 SubmittersRCV000189771 RCV000764999 RCV001274539 RCV002317662

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

Criteria Provided
Multiple Submitters
No Conflicts

CA319175

rs_56144125

7 SubmittersRCV000189764 RCV000586250 RCV000673911 RCV002336504

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 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Angelman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA319165

rs_756564767

10 SubmittersRCV000189759 RCV000763269 RCV000792396 RCV001004372 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
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA319163

rs_201613668

4 SubmittersRCV000189758 RCV000765000 RCV001274542

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

SNV
Germline

Chr11:6617695

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA319150

rs_202189057

6 SubmittersRCV000189751 RCV000210549 RCV000984312 RCV002492873

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/Likely 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
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319148

rs_138448968

7 SubmittersRCV000189750 RCV000341505 RCV000765001 RCV002362994

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

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

Criteria Provided
Conflicting Classifications

CA319144

rs_142163063

6 SubmittersRCV000189748 RCV000726300 RCV001274548 RCV002314771 RCV003224212

NM_006493.2(CLN5):c.2T>A (p.Met1Lys)

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

NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)

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

5 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
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313855

rs_202118652

11 SubmittersRCV000187046 RCV000405110 RCV000514392 RCV001083336 RCV001111453 RCV002314700

NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)

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

NM_006493.2(CLN5):c.116C>G (p.Ser39Trp)

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

Criteria Provided
Conflicting Classifications

CA313861

rs_146993892

9 SubmittersRCV000395302 RCV000726511 RCV001082301 RCV001111458 RCV001727624 RCV002317080

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
Condition: not provided
Neuronal ceroid lipofuscinosis 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313912

rs_778982551

6 SubmittersRCV000473058 RCV000726582 RCV001336971 RCV002311261

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

SNV
Germline

Chr13:76996010

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA313918

rs_546989392

15 SubmittersRCV000187069 RCV000556663 RCV000613275 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_017882.3(CLN6):c.799G>A (p.Ala267Thr)

SNV
Germline

Chr15:68208277

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA313946

rs_374613712

3 SubmittersRCV001704977 RCV002415804 RCV002513989

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
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313943

rs_145247814

5 SubmittersRCV000187081 RCV000725138 RCV001085180 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

Criteria Provided
Conflicting Classifications

CA313985

rs_3743088

8 SubmittersRCV000187109 RCV000664477 RCV001082320 RCV001731421 RCV002311263

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

SNV
Germline

Chr16:28477577

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis
early onset and severe retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_796052338

4 SubmittersRCV000673887 RCV001211899 RCV001270478

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

SNV
Germline

Chr16:28482173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA313722

rs_386833744

5 SubmittersRCV000187016 RCV000504655 RCV000812919 RCV001729444

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

Condition: not provided
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA313711

rs_796052335

4 SubmittersRCV000187013 RCV001729442 RCV002516983

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

4 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 3
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313703

rs_373034150

6 SubmittersRCV000345320 RCV000432571 RCV001119063 RCV001218859 RCV002314697

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

SNV
Germline

Chr16:28488643

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA313772

rs_137906617

14 SubmittersRCV000300798 RCV000725785 RCV000791120 RCV001086732 RCV001121029 RCV002317078

NM_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

Pathogenic

Neuronal ceroid lipofuscinosis 10

No Assertion Criteria Provided

CA276036

rs_797045137

1 SubmittersRCV000190882

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

SNV
Germline

Chr8:1771524

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA277008

rs_149308952

6 SubmittersRCV000192707 RCV001580081 RCV002307439

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

SNV
Germline

Chr8:1771262

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581621

rs_878853322

6 SubmittersRCV000225555

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

SNV
Germline

Chr1:40078579

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA10581622

rs_878853324

2 SubmittersRCV000225429

NM_000310.4(PPT1):c.133T>C (p.Cys45Arg)

SNV
Germline

Chr1:40092499

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

No Assertion Criteria Provided

CA10581624

rs_878853323

1 SubmittersRCV000225611

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
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599226

rs_368365607

7 SubmittersRCV000251360 RCV000726178 RCV001082817 RCV001828146 RCV002418085

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

SNV
Germline

Chr11:66565008

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6125323

rs_141915593

4 SubmittersRCV000255055 RCV001063136 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
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5813950

rs_147800688

6 SubmittersRCV000308097 RCV000725129 RCV001084655 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

5 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
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9969630

rs_189308547

4 SubmittersRCV000277916 RCV000726583 RCV001084367 RCV002317824

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 10
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA5814290

rs_535140505

2 SubmittersRCV000404301 RCV003765791

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
Condition: not provided
not specified
TPP1-related disorder

Criteria Provided
Conflicting Classifications

CA5858594

rs_372564255

6 SubmittersRCV000365676 RCV000726663 RCV000444737 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
Neuronal ceroid lipofuscinosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7980643

rs_377369610

3 SubmittersRCV000330765 RCV000544564 RCV001116002 RCV001707651

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

7 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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5814296

rs_368529527

5 SubmittersRCV000304091 RCV000632764 RCV001711904 RCV002314044

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
not specified
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA7007230

rs_772501269

4 SubmittersRCV000277190 RCV000431986 RCV000981024 RCV001113464

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 5
Neuronal ceroid lipofuscinosis
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7007238

rs_751496223

7 SubmittersRCV000332312 RCV001114857 RCV000632739 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

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

Criteria Provided
Conflicting Classifications

CA9969747

rs_746222594

3 SubmittersRCV000385002 RCV001139076 RCV000921975 RCV002328865

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

SNV
Germline

Chr20:63930973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9969748

rs_772254851

4 SubmittersRCV000290863 RCV001088544 RCV001139077 RCV000726834

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, Dominant/Recessive
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

CA10644802

rs_553934239

1 SubmittersRCV000403374 RCV001111551

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

SNV
Germline

Chr17:44350271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8601872

rs_149180605

2 SubmittersRCV000349606 RCV002056604

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

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

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/Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Single Submitter

CA16040730

rs_1057516447

1 SubmittersRCV000409057

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

SNV
Unknown

Chr1:40097113

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA16040733

rs_1057517368

1 SubmittersRCV000410017

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

SNV
Unknown

Chr1:40097231

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

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
Multiple Submitters
No Conflicts

CA4599282

rs_756267448

2 SubmittersRCV000410670 RCV001850955

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

SNV
Unknown

Chr11:6614687

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041510

rs_786204553

3 SubmittersRCV000411444 RCV001038809

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

SNV
Germline

Chr11:6615449

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Abnormality of the nervous system

Criteria Provided
Multiple Submitters
No Conflicts

CA16041512

rs_1057516319

2 SubmittersRCV000411513 RCV001814153

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

SNV
Germline

Chr11:6616004

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041513

rs_113019349

2 SubmittersRCV000411197 RCV001378362

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

SNV
Germline

Chr11:6616973

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Abnormality of the nervous system

Criteria Provided
Multiple Submitters
No Conflicts

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
Multiple Submitters
No Conflicts

CA5858889

rs_752164603

2 SubmittersRCV000411357 RCV003114527

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

SNV
Unknown

Chr11:6617777

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

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/Likely 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

Criteria Provided
Single Submitter

CA16041786

rs_1057516267

1 SubmittersRCV000409352

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

SNV
Germline

Chr16:28482475

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7980777

rs_771788391

4 SubmittersRCV000410383 RCV000726946 RCV002523852

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

SNV
Unknown

Chr16:28482673

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

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
Multiple Submitters
No Conflicts

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
Multiple Submitters
No Conflicts

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

5 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
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630447

rs_750937323

4 SubmittersRCV000416280 RCV000675067 RCV001865306 RCV002248651

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

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

Criteria Provided
Conflicting Classifications

CA4599279

rs_376910635

6 SubmittersRCV000726643 RCV001081197 RCV002339051 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

Criteria Provided
Conflicting Classifications

CA5858785

rs_145966505

4 SubmittersRCV000437106 RCV001375972 RCV002313067

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

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

Criteria Provided
Conflicting Classifications

CA7981071

rs_775577824

5 SubmittersRCV000428334 RCV000632694 RCV000675978 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
not specified
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Conflicting Classifications

CA7630612

rs_769701646

5 SubmittersRCV000454168 RCV000499595 RCV001379796 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_001042432.2(CLN3):c.460+3G>A

SNV
Germline

Chr16:28487453

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
CLN3-related disorder

Criteria Provided
Conflicting Classifications

CA7980923

rs_779238243

2 SubmittersRCV000473448 RCV003902648

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

SNV
Germline

Chr4:127920826

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3077232

rs_559155109

7 SubmittersRCV000480079 RCV000505013 RCV000504782 RCV000505174 RCV000805545 RCV001542748 RCV001805096 RCV002313243

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620001

rs_1064796787

2 SubmittersRCV000484435 RCV002525960

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

SNV
Germline

Chr16:28477620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7980640

rs_139842473

14 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620176

rs_1064794233

4 SubmittersRCV000480738 RCV001729612 RCV003532139

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

SNV
Germline

Chr16:28486653

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

CA7981009

rs_150348015

6 SubmittersRCV000632734 RCV001729611 RCV001721545 RCV002455909 RCV003902720

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

SNV
Germline

Chr11:66566329

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6125485

rs_148611356

7 SubmittersRCV000487825 RCV001085523 RCV002318587 RCV003932784

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

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA379473210

rs_1131691676

3 SubmittersRCV000494500 RCV001829413 RCV003403142

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

SNV
Germline

Chr4:127943775

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA3077486

rs_749704755

4 SubmittersRCV000496155 RCV002222533

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

SNV
Germline

Chr15:68208354

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9969802

rs_761982169

3 SubmittersRCV000498553 RCV001049122 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.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

5 SubmittersRCV000517994 RCV001218285 RCV003234777

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

SNV
Germline

Chr17:44351688

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399765702

rs_1555611293

4 SubmittersRCV000517776 RCV002527479 RCV004553130

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

Neuronal ceroid lipofuscinosis 5
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7007121

rs_200348035

4 SubmittersRCV000984156 RCV000521345 RCV001858008

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

SNV
Germline

Chr1:40080396

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

CA339847537

rs_1265044710

2 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

Criteria Provided
Single Submitter

CA3077461

rs_751696703

1 SubmittersRCV000533734

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

SNV
Germline

Chr15:68211716

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630608

rs_747229909

2 SubmittersRCV000551912

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

4 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
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_143730802

2 SubmittersRCV001229215 RCV000677235

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
Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630628

rs_201095412

4 SubmittersRCV000595470 RCV000678437 RCV001051368

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

Criteria Provided
Multiple Submitters
No Conflicts

CA358175979

rs_1553950197

3 SubmittersRCV000599516 RCV003600384

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

SNV
Germline

Chr4:127932984

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA105679760

rs_200319160

8 SubmittersRCV000616705 RCV001067482 RCV001783107 RCV002529305

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 1
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA789741

rs_143657539

4 SubmittersRCV000624853 RCV002531879 RCV002282269

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

4 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

Criteria Provided
Conflicting Classifications

CA7630488

rs_746753722

4 SubmittersRCV000625854 RCV000799881

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

2 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_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_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

rs_368152533

2 SubmittersRCV000658402 RCV001861696

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

SNV
Unknown

Chr1:40074147

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

rs_1553166135

1 SubmittersRCV000666663

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

SNV
Unknown

Chr1:40074185

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

rs_1553166147

1 SubmittersRCV000668323

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

SNV
Germline

Chr1:40091401

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553167430

2 SubmittersRCV000667194

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

SNV
Germline

Chr1:40076840

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553166337

3 SubmittersRCV000674642

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

SNV
Germline

Chr1:40091328

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553167415

3 SubmittersRCV000673308

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

SNV
Germline

Chr8:1780469

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_746397087

2 SubmittersRCV000674890 RCV002544675

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

SNV
Germline

Chr8:1771337

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_759830733

2 SubmittersRCV000670971 RCV001868250

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

SNV
Unknown

Chr8:1771360

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

rs_1554449124

1 SubmittersRCV000666024

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

SNV
Germline

Chr8:1771452

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_554042394

2 SubmittersRCV000674248 RCV001381243

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

SNV
Unknown

Chr8:1780248

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

rs_1554451484

1 SubmittersRCV000668307

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

SNV
Unknown

Chr8:1771056

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

rs_1554448874

1 SubmittersRCV000671294

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

SNV
Germline

Chr8:1771280

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554449047

2 SubmittersRCV000672400 RCV002532124

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

SNV
Germline

Chr8:1771366

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554449136

2 SubmittersRCV000672329 RCV001855577

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

SNV
Germline

Chr8:1780317

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1184563885

6 SubmittersRCV000666347 RCV001526988 RCV001386654 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

Criteria Provided
Conflicting Classifications

rs_368709098

6 SubmittersRCV000668623 RCV001215564 RCV001644760

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

SNV
Germline

Chr11:6616075

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554901731

2 SubmittersRCV000666279 RCV001208874

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

SNV
Germline

Chr11:6616076

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1424116749

3 SubmittersRCV000667649 RCV001379383 RCV003230565

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

SNV
Germline

Chr11:6616342

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

rs_1554901784

5 SubmittersRCV000668234 RCV001058281 RCV003117472

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

SNV
Germline

Chr11:6619383

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_786204553

2 SubmittersRCV000674411 RCV003558528

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

SNV
Germline

Chr13:76992175

Pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_764790770

3 SubmittersRCV000668838

NM_006493.2(CLN5):c.1A>C (p.Met1Leu)

SNV
Germline

Chr13:76991952

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1268502139

4 SubmittersRCV000670614 RCV001438116 RCV002422455

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

SNV
Germline

Chr15:68218550

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

rs_1451777867

3 SubmittersRCV000670264 RCV000689116

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

SNV
Germline

Chr15:68211674

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_756522171

4 SubmittersRCV000671252 RCV002317912 RCV001868252 RCV002499177

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

SNV
Germline

Chr15:68208239

Pathogenic/Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555438212

2 SubmittersRCV000672314 RCV002532122

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

SNV
Germline

Chr15:68209759

Pathogenic/Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_386833708

3 SubmittersRCV000664968 RCV001868197 RCV003420170

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

SNV
Unknown

Chr16:28482200

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

rs_1418997146

1 SubmittersRCV000664643

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

SNV
Unknown

Chr16:28487743

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

rs_1478660606

1 SubmittersRCV000672581

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

SNV
Unknown

Chr13:76996128

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

rs_1555274014

1 SubmittersRCV000670302

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

SNV
Unknown

Chr16:28477818

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

rs_142456044

1 SubmittersRCV000665318

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

SNV
Germline

Chr15:68208180

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Single Submitter

rs_1555469089

1 SubmittersRCV000667804

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

SNV
Germline

Chr16:28491561

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

rs_1555469477

4 SubmittersRCV000670278 RCV000778462

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

SNV
Unknown

Chr16:28491713

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

rs_1057516343

1 SubmittersRCV000674867

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

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

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

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

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

rs_1560776422

1 SubmittersRCV000696434

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

SNV
Germline

Chr17:44351607

Pathogenic

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

Criteria Provided
Single Submitter

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

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

rs_556661896

1 SubmittersRCV000715016

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

SNV
Germline

Chr4:127938782

Pathogenic/Likely pathogenic

Inborn genetic diseases
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_868732642

2 SubmittersRCV002318663 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

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

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

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

rs_573483617

5 SubmittersRCV000991844 RCV002060952 RCV002318310 RCV003953286

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

SNV
Germline

Chr11:66566336

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_143313688

9 SubmittersRCV000968779 RCV001079316 RCV001288581 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

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_371119011

6 SubmittersRCV001124956 RCV001702835 RCV001207054 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
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_149180605

4 SubmittersRCV000873800 RCV001662792 RCV001662791 RCV002317979

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

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

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
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

rs_753994750

3 SubmittersRCV000731367 RCV003647804

NM_005476.7(GNE):c.32G>A (p.Arg11Gln)

SNV
Germline

Chr9:36249324

Conflicting classifications of pathogenicity

Condition: not provided
Sialuria
GNE myopathy
Neuronal ceroid lipofuscinosis
GNE myopathy
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

rs_1401082365

3 SubmittersRCV000732542 RCV001050314 RCV004526764 RCV004579561 RCV004540067

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

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

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

rs_1564855725

3 SubmittersRCV000735435 RCV000988484

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

SNV
Germline

Chr17:44349552

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

rs_1557714302

1 SubmittersRCV000785936

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

SNV
Germline

Chr13:76995097

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 5
Pontocerebellar hypoplasia type 2D

Criteria Provided
Conflicting Classifications

rs_1593910113

2 SubmittersRCV000791202 RCV003230275

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

rs_1578912362

2 SubmittersRCV000794452 RCV003141777

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

SNV
Germline

Chr8:1771349

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

rs_750162094

1 SubmittersRCV000810062

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

SNV
Germline

Chr11:6617372

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_748686068

5 SubmittersRCV001104755 RCV001869254 RCV002501061

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

SNV
Germline

Chr11:6618842

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

rs_1315730321

2 SubmittersRCV000797713 RCV001825562

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

rs_142782021

2 SubmittersRCV000820991 RCV002352455

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

SNV
Germline

Chr15:68211755

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

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

Criteria Provided
Conflicting Classifications

rs_200019356

2 SubmittersRCV000822374 RCV001124958

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

rs_386833722

3 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

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
Neuronal ceroid lipofuscinosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770136863

3 SubmittersRCV000862905 RCV001116113 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

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

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

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
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 13

Criteria Provided
Conflicting Classifications

rs_142782021

3 SubmittersRCV000882323 RCV002354714 RCV002065474

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

SNV
Germline

Chr15:68208313

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1195840845

3 SubmittersRCV000895302 RCV001501377 RCV002390878

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

rs_376590377

2 SubmittersRCV000894808 RCV002264990

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

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

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

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

rs_386834130

1 SubmittersRCV000988029

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

SNV
Unknown

Chr11:6616974

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

rs_1465284719

1 SubmittersRCV000988483

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

SNV
Germline

Chr17:44349540

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_143560849

4 SubmittersRCV000992526 RCV002067595 RCV002454237 RCV004553533

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

SNV
Germline

Chr17:44351728

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_149023078

3 SubmittersRCV000992525 RCV002550640 RCV001869374

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

SNV
Germline

Chr11:66564632

Pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1598363083

2 SubmittersRCV000995780 RCV001858821

NM_000310.4(PPT1):c.749G>A (p.Gly250Asp)

SNV
Germline

Chr1:40076891

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

rs_386833666

1 SubmittersRCV001068242

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

rs_1043984708

3 SubmittersRCV001050490 RCV002469331

NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr4:127957552

Pathogenic

Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_749315686

4 SubmittersRCV001049768 RCV001271146 RCV002497393

NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)

SNV
Germline

Chr8:1771365

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

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
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_753956759

2 SubmittersRCV001058062 RCV001593231

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

SNV
Germline

Chr4:127932984

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

rs_200319160

1 SubmittersRCV001062378

NM_001371596.2(MFSD8):c.699-1G>C

SNV
Germline

Chr4:127938839

Likely pathogenic

Neuronal ceroid lipofuscinosis 7
Inborn genetic diseases
Late-infantile neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1739594685

3 SubmittersRCV001037170 RCV002551375 RCV001832379

NM_006493.4(CLN5):c.173+1G>T

SNV
Germline

Chr13:76992272

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

rs_2046158549

4 SubmittersRCV001074167 RCV001376248 RCV001862820

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

SNV
Germline

Chr4:127938782

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_868732642

3 SubmittersRCV001092642 RCV001204062 RCV001706719

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

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

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

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

rs_755867394

2 SubmittersRCV001103556 RCV002558037

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

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

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

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

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

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

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 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

rs_376478363

2 SubmittersRCV001116003 RCV001422385

NM_001042432.2(CLN3):c.759C>A (p.Leu253=)

SNV
Germline

Chr16:28484037

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

rs_772274552

3 SubmittersRCV001117457 RCV002221608 RCV001419724

NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)

SNV
Germline

Chr16:28486459

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

rs_386833731

3 SubmittersRCV001119059

NM_017882.3(CLN6):c.83+11G>A

SNV
Germline

Chr15:68229491

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

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

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

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

Criteria Provided
Conflicting Classifications

rs_751072702

2 SubmittersRCV001122278 RCV001294896

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

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

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

rs_757345902

1 SubmittersRCV001197069

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

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

rs_1649619197

1 SubmittersRCV001224764

NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu)

SNV
Germline

Chr4:127920764

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_528664888

2 SubmittersRCV001218693 RCV001560430

NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)

SNV
Germline

Chr16:28489337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_765893479

6 SubmittersRCV001222663 RCV001810499 RCV002462842 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

rs_753732321

3 SubmittersRCV001202432 RCV002491605

NM_001371596.2(MFSD8):c.199-1G>C

SNV
Germline

Chr4:127943993

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

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

rs_1648659458

1 SubmittersRCV001220801

NM_006493.4(CLN5):c.173+5G>A

SNV
Germline

Chr13:76992276

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Conflicting Classifications

rs_2034192763

3 SubmittersRCV001224988 RCV001726454

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

rs_2046221354

2 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

rs_150363441

5 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

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

rs_768449493

3 SubmittersRCV001243960 RCV001729819

NM_001042432.2(CLN3):c.375-2A>T

SNV
Germline

Chr16:28487543

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

rs_775616181

2 SubmittersRCV001225343 RCV003469396

NM_000391.4(TPP1):c.1075+2T>C

SNV
Germline

Chr11:6616313

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

rs_1855583482

2 SubmittersRCV001239840 RCV001828943

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

Criteria Provided
Conflicting Classifications

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
Single Submitter

rs_1209722075

2 SubmittersRCV001255132

NM_000310.4(PPT1):c.733G>A (p.Gly245Arg)

SNV
Germline

Chr1:40076907

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

rs_1259755308

2 SubmittersRCV001255711

NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)

SNV
Germline

Chr4:127920793

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

rs_1275962600

4 SubmittersRCV002272437 RCV001263428

NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)

SNV
Unknown

Chr15:68211306

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Adult neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

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

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

rs_2046112247

1 SubmittersRCV001263873

NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)

SNV
Germline

Chr11:6615256

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

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

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

rs_993001712

4 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

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

rs_1344658850

2 SubmittersRCV001314504 RCV002246295

NM_017882.3(CLN6):c.3G>A (p.Met1Ile)

SNV
Germline

Chr15:68229582

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2093262869

2 SubmittersRCV001316419

NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)

SNV
Germline

Chr11:66567259

Pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

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

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

rs_386834124

2 SubmittersRCV001373416 RCV002246347

NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)

SNV
Germline

Chr8:1771509

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138581191

3 SubmittersRCV001359907 RCV002341751 RCV001549577

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

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

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
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Conflicting Classifications

rs_942972881

2 SubmittersRCV001370695 RCV002245980

NM_000310.4(PPT1):c.628-2A>G

SNV
Germline

Chr1:40078660

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_571950296

4 SubmittersRCV001379020 RCV001831364 RCV003128762

NM_017882.3(CLN6):c.543-2A>G

SNV
Germline

Chr15:68209761

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

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

rs_1218568487

1 SubmittersRCV001379292

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

SNV
Germline

Chr16:28482325

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

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

rs_2124494531

1 SubmittersRCV001387455

NM_001371596.2(MFSD8):c.1325C>A (p.Ser442Ter)

SNV
Germline

Chr4:127921549

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

rs_953995815

1 SubmittersRCV001388134

NM_018941.4(CLN8):c.130C>T (p.Gln44Ter)

SNV
Germline

Chr8:1771184

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

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

rs_2154035107

2 SubmittersRCV001389234 RCV001729913

NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)

SNV
Germline

Chr13:77000882

Pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_386833968

4 SubmittersRCV001385483 RCV001729909

NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)

SNV
Germline

Chr15:68208308

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_760271120

2 SubmittersRCV001385144 RCV001560278

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

SNV
Germline

Chr16:28477637

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

rs_1228953213

1 SubmittersRCV001384656

NM_002087.4(GRN):c.614C>A (p.Ser205Ter)

SNV
Germline

Chr17:44350706

Pathogenic

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

Criteria Provided
Single Submitter

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

rs_1006236175

2 SubmittersRCV001446862 RCV002341986

NM_017882.3(CLN6):c.199-4G>A

SNV
Germline

Chr15:68214392

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_767945732

2 SubmittersRCV001503429 RCV002567961

NM_001371596.2(MFSD8):c.1351-1G>A

SNV
Germline

Chr4:127920837

Conflicting classifications of pathogenicity

Abnormality of the nervous system
Neuronal ceroid lipofuscinosis 7

Criteria Provided
Conflicting Classifications

rs_565253666

2 SubmittersRCV001814504 RCV002568933

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

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

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

Criteria Provided
Conflicting Classifications

rs_1401497994

3 SubmittersRCV001591920 RCV001866161 RCV002471126

NM_000310.4(PPT1):c.442G>T (p.Gly148Ter)

SNV
Unknown

Chr1:40089504

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

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

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
Neuronal ceroid lipofuscinosis 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201500574

3 SubmittersRCV001773945 RCV001861081 RCV002425043

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

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

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

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

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

rs_2124487981

1 SubmittersRCV001990690

NM_001042432.2(CLN3):c.500T>A (p.Val167Asp)

SNV
Germline

Chr16:28486611

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

rs_1418465028

1 SubmittersRCV001891503

NM_000310.4(PPT1):c.218G>A (p.Gly73Glu)

SNV
Germline

Chr1:40092414

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

rs_2141707084

1 SubmittersRCV001981877

NM_006493.4(CLN5):c.982G>T (p.Glu328Ter)

SNV
Germline

Chr13:77000874

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

rs_2154035204

1 SubmittersRCV001963063

NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)

SNV
Germline

Chr8:1771180

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

rs_2154034716

2 SubmittersRCV001926582 RCV004571628

NM_000391.4(TPP1):c.509-6C>G

SNV
Germline

Chr11:6617159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

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

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

rs_1217725909

2 SubmittersRCV001990458 RCV002569254

NM_001371596.2(MFSD8):c.77T>G (p.Leu26Ter)

SNV
Germline

Chr4:127957578

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

rs_760049336

1 SubmittersRCV001900279

NM_001909.5(CTSD):c.228+1G>T

SNV
Germline

Chr11:1761308

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

rs_766300396

1 SubmittersRCV002020530

NM_002087.4(GRN):c.1216C>T (p.Gln406Ter)

SNV
Germline

Chr17:44352051

Pathogenic

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

Criteria Provided
Single Submitter

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

rs_771788391

1 SubmittersRCV001961679

NM_002087.4(GRN):c.934-1G>A

SNV
Germline

Chr17:44351549

Likely pathogenic

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

Criteria Provided
Single Submitter

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_776443007

2 SubmittersRCV001890512

NM_000310.4(PPT1):c.551A>T (p.Glu184Val)

SNV
Germline

Chr1:40080473

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

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

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

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

rs_370663969

3 SubmittersRCV002250114 RCV003126205

NM_001366624.2(CLN5):c.*43G>A

SNV
Germline

Chr13:77000486

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2034339711

2 SubmittersRCV002255219 RCV003647863

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

1 SubmittersRCV002471478

NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter)

SNV
Germline

Chr4:127938810

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV002470228

NM_018941.4(CLN8):c.544-1G>T

SNV
Unknown

Chr8:1780249

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV002488681

NM_000310.4(PPT1):c.234+2T>G

SNV
Unknown

Chr1:40092396

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003077656

NM_000391.4(TPP1):c.646G>A (p.Val216Met)

SNV
Germline

Chr11:6617016

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003069412 RCV003230767

NM_002087.4(GRN):c.264+6C>T

SNV
Germline

Chr17:44349557

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003079278 RCV004550379

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

2 SubmittersRCV003087898 RCV003883879

NM_001371596.2(MFSD8):c.154+1G>A

SNV
Germline

Chr4:127957500

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003079055

NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)

SNV
Germline

Chr8:1771125

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003078046

NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)

SNV
Germline

Chr8:1771213

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003082535

NM_001371596.2(MFSD8):c.1350+1G>A

SNV
Germline

Chr4:127921523

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

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

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

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

2 SubmittersRCV003112008 RCV003466009

NM_017882.3(CLN6):c.723G>C (p.Met241Ile)

SNV
Germline

Chr15:68208353

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003162121 RCV003992743 RCV003110441

NM_001042432.2(CLN3):c.534-1G>C

SNV
Germline

Chr16:28486491

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003104286

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

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

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

1 SubmittersRCV002594682

NM_006493.4(CLN5):c.339+1G>A

SNV
Germline

Chr13:76995229

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002635835

NM_001042432.2(CLN3):c.1057-1G>A

SNV
Germline

Chr16:28477878

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002635544

NM_017882.3(CLN6):c.542+2T>C

SNV
Germline

Chr15:68211261

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002643509

NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr8:1780472

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002695903

NM_000310.4(PPT1):c.326A>G (p.Tyr109Cys)

SNV
Germline

Chr1:40092081

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV002717020

NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)

SNV
Germline

Chr15:68208249

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002800775

NM_001371596.2(MFSD8):c.600G>A (p.Trp200Ter)

SNV
Germline

Chr4:127939951

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV002790903

NM_001909.5(CTSD):c.169C>T (p.Gln57Ter)

SNV
Germline

Chr11:1761368

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002824407

NM_000310.4(PPT1):c.726+2T>G

SNV
Germline

Chr1:40078558

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV002791908

NM_001371596.2(MFSD8):c.291G>A (p.Trp97Ter)

SNV
Germline

Chr4:127943900

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV002824884

NM_001371596.2(MFSD8):c.199-1G>A

SNV
Germline

Chr4:127943993

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV002846590

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

SNV
Germline

Chr16:28482674

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002861758

NM_002087.4(GRN):c.1179+1G>C

SNV
Germline

Chr17:44351796

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002833411

NM_001909.5(CTSD):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr11:1757370

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002829096

NM_000310.4(PPT1):c.722C>A (p.Ser241Ter)

SNV
Germline

Chr1:40078564

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV002829181

NM_001371596.2(MFSD8):c.974T>G (p.Leu325Ter)

SNV
Germline

Chr4:127930707

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV002843511

NM_000310.4(PPT1):c.775C>T (p.Gln259Ter)

SNV
Germline

Chr1:40076865

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV002889598

NM_001371596.2(MFSD8):c.439+2T>A

SNV
Germline

Chr4:127943750

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV002894226

NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)

SNV
Germline

Chr16:28486472

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002881369 RCV003465858

NM_001909.5(CTSD):c.68+1G>A

SNV
Germline

Chr11:1763791

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002895724

NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter)

SNV
Germline

Chr4:127921891

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV002872750

NM_000310.4(PPT1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr1:40097238

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV002877470

NM_006493.4(CLN5):c.687C>G (p.Tyr229Ter)

SNV
Germline

Chr13:77000579

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV002954176 RCV003313296

NM_001042432.2(CLN3):c.460+2T>G

SNV
Germline

Chr16:28487454

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003009773

NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)

SNV
Germline

Chr15:68214368

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002999989

NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)

SNV
Germline

Chr16:28482194

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002994396

NM_006493.4(CLN5):c.786C>G (p.Tyr262Ter)

SNV
Germline

Chr13:77000678

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003012522

NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)

SNV
Germline

Chr11:1754134

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003013958

NM_001371596.2(MFSD8):c.1103-2A>T

SNV
Germline

Chr4:127921773

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003016705

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

SNV
Germline

Chr8:1780415

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003014527

NM_001371596.2(MFSD8):c.755-2A>C

SNV
Germline

Chr4:127933095

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV002996751

NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)

SNV
Germline

Chr15:68211295

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

1 SubmittersRCV003029418

NM_001371596.2(MFSD8):c.198+1G>A

SNV
Germline

Chr4:127949803

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

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

2 SubmittersRCV003034647 RCV003491196

NM_006493.4(CLN5):c.242C>A (p.Ser81Ter)

SNV
Germline

Chr13:76995131

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003037953

NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)

SNV
Germline

Chr11:1757478

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003022249

NM_000310.4(PPT1):c.434-1G>C

SNV
Germline

Chr1:40089513

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003046689

NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)

SNV
Germline

Chr17:44351774

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003035999

NM_001042432.2(CLN3):c.790+1G>A

SNV
Germline

Chr16:28484005

Likely pathogenic

Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004572695 RCV003052339

NM_006493.4(CLN5):c.339+1G>T

SNV
Germline

Chr13:76995229

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

2 SubmittersRCV002831535 RCV003777829

NM_001371596.2(MFSD8):c.68G>A (p.Trp23Ter)

SNV
Germline

Chr4:127957587

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003226083

NM_000391.4(TPP1):c.230-2A>G

SNV
Germline

Chr11:6617778

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003226105

NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)

SNV
Germline

Chr7:66638331

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003226609

NM_003793.4(CTSF):c.965-1G>A

SNV
Unknown

Chr11:66565752

Likely pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV003314379

NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)

SNV
Germline

Chr8:1771501

Pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003388912

NM_001042432.2(CLN3):c.838-3C>G

SNV
Germline

Chr16:28482548

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003448644

NM_000310.4(PPT1):c.234+2T>C

SNV
Unknown

Chr1:40092396

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003468462

NM_001042432.2(CLN3):c.125+2T>C

SNV
Unknown

Chr16:28491480

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003468473

NM_006493.4(CLN5):c.34G>T (p.Glu12Ter)

SNV
Unknown

Chr13:76992132

Likely pathogenic

Neuronal ceroid lipofuscinosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV003468474

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

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

1 SubmittersRCV003468479

NM_000391.4(TPP1):c.1146-199G>A

SNV
Germline

Chr11:6615761

Pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

1 SubmittersRCV003486538

NM_000310.4(PPT1):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr1:40092088

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003510552

NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)

SNV
Germline

Chr8:1771584

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003533876

NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)

SNV
Germline

Chr11:1761347

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003533987

NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)

SNV
Germline

Chr15:68211819

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003533894

NM_006493.4(CLN5):c.989G>A (p.Trp330Ter)

SNV
Germline

Chr13:77000881

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003533899

NM_001909.5(CTSD):c.704+1G>T

SNV
Germline

Chr11:1757323

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003533943

NM_001042432.2(CLN3):c.790+1G>T

SNV
Germline

Chr16:28484005

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003534000

NM_001042432.2(CLN3):c.1056+1G>A

SNV
Germline

Chr16:28482104

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003534072

NM_001371596.2(MFSD8):c.998+1G>C

SNV
Germline

Chr4:127930682

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003496477

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

SNV
Germline

Chr4:127932984

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

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

1 SubmittersRCV003494654

NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)

SNV
Germline

Chr15:68211735

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003531570

NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter)

SNV
Germline

Chr13:77000660

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003531673

NM_001371596.2(MFSD8):c.998+2T>G

SNV
Germline

Chr4:127930681

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003494901

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

SNV
Germline

Chr1:40092509

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003511454

NM_018941.4(CLN8):c.1A>T (p.Met1Leu)

SNV
Germline

Chr8:1771055

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003531753

NM_001371596.2(MFSD8):c.755-1G>A

SNV
Germline

Chr4:127933094

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003495688

NM_001909.5(CTSD):c.828-2A>C

SNV
Germline

Chr11:1754140

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003531821

NM_001042432.2(CLN3):c.222+1G>A

SNV
Germline

Chr16:28489289

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003531822

NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)

SNV
Germline

Chr8:1780333

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003531840

NM_000310.4(PPT1):c.628-2A>T

SNV
Germline

Chr1:40078660

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003510217

NM_001042432.2(CLN3):c.3G>A (p.Met1Ile)

SNV
Germline

Chr16:28491757

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

1 SubmittersRCV003619965

NM_006493.4(CLN5):c.636G>A (p.Trp212Ter)

SNV
Germline

Chr13:77000528

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648196

NM_000310.4(PPT1):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr1:40092091

Pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003619909

NM_001371596.2(MFSD8):c.699-2A>G

SNV
Germline

Chr4:127938840

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

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

2 SubmittersRCV003620765

NM_017882.3(CLN6):c.487-1G>T

SNV
Germline

Chr15:68211319

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648264

NM_017882.3(CLN6):c.1A>C (p.Met1Leu)

SNV
Germline

Chr15:68229584

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648265

NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)

SNV
Germline

Chr8:1771431

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648286

NM_001042432.2(CLN3):c.837+1G>T

SNV
Germline

Chr16:28482625

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648306

NM_001371596.2(MFSD8):c.900G>A (p.Trp300Ter)

SNV
Germline

Chr4:127930781

Pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

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

1 SubmittersRCV003602100

NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)

SNV
Germline

Chr15:68209701

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648401

NM_006493.4(CLN5):c.529G>T (p.Glu177Ter)

SNV
Germline

Chr13:76996091

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648418

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

SNV
Germline

Chr16:28491562

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648447

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

SNV
Germline

Chr16:28486652

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648501

NM_000310.4(PPT1):c.235-1G>A

SNV
Germline

Chr1:40092173

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003621297

NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr11:1755015

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648452

NM_001909.5(CTSD):c.972+1G>C

SNV
Germline

Chr11:1753993

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648606

NM_001909.5(CTSD):c.69-1G>A

SNV
Germline

Chr11:1761469

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003648820

NM_001371596.2(MFSD8):c.864-2A>G

SNV
Germline

Chr4:127930819

Likely pathogenic

Neuronal ceroid lipofuscinosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003600303

NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)

SNV
Germline

Chr15:68218566

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003789585

NM_002087.4(GRN):c.265-2A>T

SNV
Germline

Chr17:44349665

Likely pathogenic

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

Criteria Provided
Single Submitter

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

2 SubmittersRCV003792923 RCV003886641

NM_006493.4(CLN5):c.340-1G>C

SNV
Germline

Chr13:76995901

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003833240

NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)

SNV
Germline

Chr11:1758983

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

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

1 SubmittersRCV003870655

NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr11:66566348

Pathogenic

Neuronal ceroid lipofuscinosis 13

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003993536

NM_000310.4(PPT1):c.726+2T>C

SNV
Unknown

Chr1:40078558

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574618

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

SNV
Unknown

Chr1:40078659

Likely pathogenic

Neuronal ceroid lipofuscinosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574619

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

SNV
Unknown

Chr16:28486346

Likely pathogenic

Neuronal ceroid lipofuscinosis 3

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV004575665

NM_006493.4(CLN5):c.339+2T>A

SNV
Germline

Chr13:76995230

Pathogenic

Neuronal ceroid lipofuscinosis 5

No Assertion Criteria Provided

1 SubmittersRCV004577969