Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)	SNV Germline	Chr15:68214373	Pathogenic	Ceroid lipofuscinosis, neuronal, 6A Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Multiple Submitters No Conflicts	CA340155	rs_104894483	9 SubmittersRCV000004292 RCV000492979 RCV001067723 RCV002316185 RCV005003333
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)	SNV Germline	Chr15:68211793	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA252981	rs_104894484	6 SubmittersRCV000004294 RCV001851638 RCV002468959 RCV005007822
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter)	SNV Germline	Chr15:68209639	Pathogenic	Ceroid lipofuscinosis, neuronal, 6A	No Assertion Criteria Provided	CA252984	rs_104894486	1 SubmittersRCV000004299
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)	SNV Germline	Chr15:68214387	Pathogenic	Condition: not provided Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	No Assertion Criteria Provided	CA259850	rs_154774633	2 SubmittersRCV000058909 RCV001787030
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	SNV Germline	Chr15:68211853	Pathogenic/Likely pathogenic	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Multiple Submitters No Conflicts	CA259851	rs_154774634	8 SubmittersRCV000058911 RCV000675061 RCV001378313 RCV001787031 RCV005003402
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)	SNV Germline	Chr15:68218595	Conflicting classifications of pathogenicity	Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	No Assertion Criteria Provided	CA259852	rs_154774635	3 SubmittersRCV000058907 RCV000675107 RCV001787032
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)	SNV Germline	Chr15:68229568	Pathogenic	Condition: not provided Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	No Assertion Criteria Provided	CA259853	rs_154774636	2 SubmittersRCV000058915 RCV001787033
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	7 SubmittersRCV000058908 RCV000668229 RCV000702360
NM_017882.3(CLN6):c.282C>A (p.Pro94=)	SNV Germline	Chr15:68214305	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290141	rs_139261571	5 SubmittersRCV000124337 RCV000632748 RCV002316355
NM_017882.3(CLN6):c.339G>A (p.Thr113=)	SNV Germline	Chr15:68211822	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290143	rs_146135801	6 SubmittersRCV000124339 RCV000465480 RCV002453447
NM_017882.3(CLN6):c.487-15C>T	SNV Germline	Chr15:68211333	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA290145	rs_200775021	3 SubmittersRCV000124341 RCV001116617
NM_017882.3(CLN6):c.585C>T (p.Gly195=)	SNV Germline	Chr15:68209717	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA290146	rs_144507672	4 SubmittersRCV000124342 RCV000529403 RCV002354313
NM_017882.3(CLN6):c.822G>A (p.Ala274=)	SNV Germline	Chr15:68208254	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA290150	rs_151186473	6 SubmittersRCV000124344 RCV000533512 RCV003390812
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)	SNV Germline	Chr15:68229551	Conflicting classifications of pathogenicity	not specified Ceroid lipofuscinosis, neuronal, 6A Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA302669	rs_112239768	16 SubmittersRCV000173024 RCV000677327 RCV000675965 RCV000989355 RCV002312552 RCV003224161
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)	SNV Germline	Chr15:68229532	Conflicting classifications of pathogenicity	not specified Adult neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases CLN6-related disorder	Criteria Provided Conflicting Classifications	CA238907	rs_547125345	7 SubmittersRCV000187111 RCV000515438 RCV000766779 RCV001085594 RCV002313023 RCV003917602
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) CLN6-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA247303	rs_143578698	13 SubmittersRCV000187108 RCV000515242 RCV000724552 RCV001080133 RCV002054140 RCV003398902 RCV002314666
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 Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA313981	rs_143781303	3 SubmittersRCV000187106 RCV001037728 RCV006640434
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.486+2T>C	SNV Germline	Chr15:68211673	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA313970	rs_796052355	1 SubmittersRCV000187099
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 Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA313990	rs_150001589	5 SubmittersRCV000187115 RCV000803649 RCV001804924 RCV006640435
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 Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA313985	rs_3743088	9 SubmittersRCV000187109 RCV000664477 RCV001082320 RCV001731421 RCV002311263 RCV005003538
NM_017882.3(CLN6):c.198+1G>A	SNV Germline	Chr15:68218535	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10588592	rs_886039727	1 SubmittersRCV000255264
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_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_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_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_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) not specified	Criteria Provided Conflicting Classifications	CA7630447	rs_750937323	5 SubmittersRCV000416280 RCV000675067 RCV001865306 RCV002248651 RCV005238972
NM_017882.3(CLN6):c.167G>A (p.Trp56Ter)	SNV Germline	Chr15:68218567	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16607854	rs_1057520571	1 SubmittersRCV000420815
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, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA7630612	rs_769701646	6 SubmittersRCV000454168 RCV000499595 RCV001379796 RCV003224283 RCV006640637
NM_017882.3(CLN6):c.84-1G>A	SNV Germline	Chr15:68218651	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA16620001	rs_1064796787	4 SubmittersRCV000484435 RCV002525960 RCV005004187 RCV006640668
NM_017882.3(CLN6):c.722T>C (p.Met241Thr)	SNV Germline	Chr15:68208354	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA392972143	rs_1555438255	3 SubmittersRCV000498748 RCV001203261 RCV006640699
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)	SNV Germline	Chr15:68211716	Likely pathogenic	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA7630608	rs_747229909	3 SubmittersRCV000551912 RCV005004218
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	SNV Germline	Chr15:68229572	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA272398366	rs_886285802	7 SubmittersRCV000534403 RCV000665418 RCV000675966 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_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 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A CLN6-related disorder	Criteria Provided Conflicting Classifications	CA7630628	rs_201095412	7 SubmittersRCV000595470 RCV000678437 RCV001051368 RCV005004259 RCV005870637
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_017882.3(CLN6):c.679G>A (p.Glu227Lys)	SNV Germline	Chr15:68208397	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630488	rs_746753722	6 SubmittersRCV000625854 RCV000799881 RCV005004278
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)	SNV Germline	Chr15:68211685	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Condition: not provided Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA501025	rs_919850756	5 SubmittersRCV000625778 RCV001091348 RCV001868157 RCV002248826 RCV006738264
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_017882.3(CLN6):c.733G>A (p.Val245Ile)	SNV Germline	Chr15:68208343	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7630480	rs_377192977	2 SubmittersRCV000632688 RCV005051808
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)	SNV Germline	Chr15:68211299	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A not specified Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA392973186	rs_1344658850	4 SubmittersRCV000667257 RCV006452819 RCV006463839 RCV006695624
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	SNV Germline	Chr15:68218550	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA392975522	rs_1451777867	4 SubmittersRCV000670264 RCV000689116
NM_017882.3(CLN6):c.486+1G>A	SNV Germline	Chr15:68211674	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) CLN6-related disorder Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA7630602	rs_756522171	7 SubmittersRCV000671252 RCV001868252 RCV002317912 RCV002499177 RCV004754526 RCV005901491
NM_017882.3(CLN6):c.83+2T>G	SNV Germline	Chr15:68229500	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Single Submitter	CA392978037	rs_1555440188	2 SubmittersRCV000666571 RCV005010652
NM_017882.3(CLN6):c.1A>G (p.Met1Val)	SNV Unknown	Chr15:68229584	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	No Assertion Criteria Provided	CA392978403	rs_1555440206	1 SubmittersRCV000672905
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)	SNV Germline	Chr15:68208239	Pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392971810	rs_1555438212	2 SubmittersRCV000672314 RCV002532122
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)	SNV Unknown	Chr15:68209637	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	No Assertion Criteria Provided	CA392972778	rs_1555438411	1 SubmittersRCV000665609
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)	SNV Germline	Chr15:68209759	Pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973070	rs_1555438443	2 SubmittersRCV000666578 RCV002530689
NM_017882.3(CLN6):c.542+1G>T	SNV Unknown	Chr15:68211262	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	No Assertion Criteria Provided	CA392973080	rs_1555438614	1 SubmittersRCV000669509
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	SNV Germline	Chr15:68208180	Pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA7630448	rs_758921701	5 SubmittersRCV000665887 RCV001855448 RCV002485526 RCV004568496
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	SNV Germline	Chr15:68209640	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7630517	rs_764571295	8 SubmittersRCV000678441 RCV001861858
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)	SNV Germline	Chr15:68211736	Conflicting classifications of pathogenicity	Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA392973433	rs_1227254537	2 SubmittersRCV002317588 RCV003388596
NM_017882.3(CLN6):c.798C>T (p.Phe266=)	SNV Germline	Chr15:68208278	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7630470	rs_140319056	2 SubmittersRCV000730801 RCV001082640
NM_017882.3(CLN6):c.721A>G (p.Met241Val)	SNV Germline	Chr15:68208355	Conflicting classifications of pathogenicity	Condition: not provided Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7630482	rs_753994750	5 SubmittersRCV000731367 RCV005004392 RCV003647804
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)	SNV Germline	Chr15:68229502	Pathogenic	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA392978054	rs_1381427322	2 SubmittersRCV000761549 RCV003479215
NM_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 Ceroid lipofuscinosis, neuronal, 6A Retinal disorder	Criteria Provided Conflicting Classifications	CA272384618	rs_1012449574	6 SubmittersRCV000813418 RCV002249523 RCV003145176 RCV006642657 RCV006646490
NM_017882.3(CLN6):c.199-5C>T	SNV Germline	Chr15:68214393	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7630670	rs_371705916	6 SubmittersRCV001084695 RCV000864156 RCV002415998
NM_017882.3(CLN6):c.831C>T (p.Val277=)	SNV Germline	Chr15:68208245	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7630463	rs_753344266	4 SubmittersRCV000868299 RCV001655622 RCV002427156
NM_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	CA491099995	rs_1195840845	3 SubmittersRCV000895302 RCV001501377 RCV002390878
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)	SNV Germline	Chr15:68209640	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630516	rs_764571295	5 SubmittersRCV001004876 RCV002549262 RCV005004478
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)	SNV Germline	Chr15:68211263	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973084	rs_1380684360	1 SubmittersRCV001042074
NM_017882.3(CLN6):c.199-2A>G	SNV Germline	Chr15:68214390	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392974522	rs_1471253353	1 SubmittersRCV001043252
NM_017882.3(CLN6):c.*42T>G	SNV Germline	Chr15:68208098	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7630426	rs_754655363	2 SubmittersRCV001119503 RCV001619887
NM_017882.3(CLN6):c.597C>G (p.Ala199=)	SNV Germline	Chr15:68209705	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA7630525	rs_368546281	2 SubmittersRCV001121504
NM_017882.3(CLN6):c.-38C>T	SNV Germline	Chr15:68229622	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7630736	rs_756496671	2 SubmittersRCV001121602 RCV001638041
NM_017882.3(CLN6):c.83+11G>A	SNV Germline	Chr15:68229491	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA1139664049	rs_2093262385	2 SubmittersRCV001118066
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)	SNV Germline	Chr15:68208301	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Condition: not provided Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7630474	rs_150363441	8 SubmittersRCV001235065 RCV001375037 RCV001561994 RCV002246224 RCV002563820
NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter)	SNV Germline	Chr15:68208407	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA392972376	rs_374271754	1 SubmittersRCV001254802
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)	SNV Unknown	Chr15:68211306	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973205	rs_2093204342	1 SubmittersRCV006694963
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)	SNV Unknown	Chr15:68211734	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973428	rs_2093205953	1 SubmittersRCV006694964
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)	SNV Unknown	Chr15:68214369	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392974482	rs_2093214695	1 SubmittersRCV006694965
NM_017882.3(CLN6):c.506T>A (p.Leu169His)	SNV Germline	Chr15:68211299	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA392973187	rs_1344658850	2 SubmittersRCV001314504 RCV002246295
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)	SNV Germline	Chr15:68229582	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA392978388	rs_2093262869	4 SubmittersRCV001316419 RCV005005165 RCV006636809
NM_017882.3(CLN6):c.665+1G>T	SNV Germline	Chr15:68209636	Likely pathogenic	Spastic ataxia Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Multiple Submitters No Conflicts	CA392972775	rs_796052356	2 SubmittersRCV001647223 RCV005005179
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)	SNV Germline	Chr15:68208353	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA272382848	rs_149262877	3 SubmittersRCV001330791
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)	SNV Germline	Chr15:68211724	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA392973404	rs_1595818249	2 SubmittersRCV001330790
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)	SNV Germline	Chr15:68211823	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA7630621	rs_758830997	2 SubmittersRCV001365750 RCV002246341
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)	SNV Germline	Chr15:68211850	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA392973689	rs_777921628	3 SubmittersRCV001368706 RCV003388608
NM_017882.3(CLN6):c.514T>C (p.Tyr172His)	SNV Germline	Chr15:68211291	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA392973163	rs_2141138753	2 SubmittersRCV001374417 RCV004697124
NM_017882.3(CLN6):c.818T>C (p.Val273Ala)	SNV Germline	Chr15:68208258	Likely pathogenic	Neurodevelopmental disorder	Criteria Provided Single Submitter	CA392971871	rs_2141135967	1 SubmittersRCV001374905
NM_017882.3(CLN6):c.782T>C (p.Phe261Ser)	SNV Germline	Chr15:68208294	Likely pathogenic	Neurodevelopmental disorder	Criteria Provided Single Submitter	CA392971959	rs_2141136011	1 SubmittersRCV001374904
NM_017882.3(CLN6):c.543-2A>G	SNV Germline	Chr15:68209761	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973075	rs_2141137336	1 SubmittersRCV001377170
NM_017882.3(CLN6):c.486+1G>C	SNV Germline	Chr15:68211674	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973299	rs_756522171	1 SubmittersRCV001377046
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)	SNV Germline	Chr15:68208308	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA7630475	rs_760271120	6 SubmittersRCV001385144 RCV001560278 RCV005005235 RCV005411738
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	CA7630669	rs_767945732	2 SubmittersRCV001503429 RCV002567961
NM_017882.3(CLN6):c.83+1G>C	SNV Germline	Chr15:68229501	Likely pathogenic	Abnormality of the nervous system Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA392978046	rs_2141156157	2 SubmittersRCV001814357 RCV006637037
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys)	SNV Germline	Chr15:68208192	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Single Submitter	CA392971642	rs_2141135900	1 SubmittersRCV001814583
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)	SNV Germline	Chr15:68214291	Conflicting classifications of pathogenicity	Ceroid lipofuscinosis, neuronal, 6A Neuronal ceroid lipofuscinosis Inborn genetic diseases Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA272387628	rs_146782642	5 SubmittersRCV001543159 RCV002032545 RCV002568264 RCV005253859 RCV005005956
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn)	SNV Germline	Chr15:68218631	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7630712	rs_533231370	3 SubmittersRCV001551476 RCV002032586 RCV002388586
NM_017882.3(CLN6):c.896C>A (p.Pro299His)	SNV Germline	Chr15:68208180	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Single Submitter	CA392971597	rs_758921701	1 SubmittersRCV001572615
NM_017882.3(CLN6):c.144G>A (p.Trp48Ter)	SNV Germline	Chr15:68218590	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA392975698	rs_2141145074	1 SubmittersRCV001780516
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser)	SNV Germline	Chr15:68211811	Pathogenic	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	No Assertion Criteria Provided	CA7630618	rs_752212030	1 SubmittersRCV001787284
NM_017882.3(CLN6):c.298-1G>C	SNV Germline	Chr15:68211864	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973747	rs_1595818391	1 SubmittersRCV001976008
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)	SNV Germline	Chr15:68214290	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA392974308	rs_1275614219	2 SubmittersRCV002465019
NM_017882.3(CLN6):c.814C>G (p.Leu272Val)	SNV Germline	Chr15:68208262	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis not specified Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Conflicting Classifications	CA392971883	rs_755397770	3 SubmittersRCV003087401 RCV004700939 RCV005010980
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)	SNV Germline	Chr15:68208353	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Inborn genetic diseases Condition: not provided Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Conflicting Classifications	CA272382849	rs_149262877	4 SubmittersRCV003110441 RCV003162121 RCV003992743 RCV006641277
NM_017882.3(CLN6):c.542+2T>C	SNV Germline	Chr15:68211261	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973079	rs_2505407519	1 SubmittersRCV002643509
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)	SNV Germline	Chr15:68208249	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Multiple Submitters No Conflicts	CA392971843	rs_2505401392	2 SubmittersRCV002800775 RCV005002887
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)	SNV Germline	Chr15:68214368	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392974477	rs_2505414959	1 SubmittersRCV002999989
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)	SNV Germline	Chr15:68211295	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973176	rs_2505407693	1 SubmittersRCV003022019
NM_017882.3(CLN6):c.843G>C (p.Trp281Cys)	SNV Germline	Chr15:68208233	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA392971786	rs_2505401316	1 SubmittersRCV003329897
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)	SNV Germline	Chr15:68214309	Pathogenic	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Single Submitter	CA392974347	rs_150001589	1 SubmittersRCV003388913
NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)	SNV Germline	Chr15:68211819	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973612	rs_765719755	1 SubmittersRCV003533894
NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)	SNV Germline	Chr15:68211735	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973431	rs_768766915	1 SubmittersRCV003531570
NM_017882.3(CLN6):c.487-1G>T	SNV Germline	Chr15:68211319	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392973240	rs_2093204407	1 SubmittersRCV003648264
NM_017882.3(CLN6):c.1A>C (p.Met1Leu)	SNV Germline	Chr15:68229584	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392978407	rs_1555440206	1 SubmittersRCV003648265
NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)	SNV Germline	Chr15:68209701	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA392972912	rs_587780316	1 SubmittersRCV003648401
NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)	SNV Germline	Chr15:68218566	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts	CA392975565	rs_1477757203	2 SubmittersRCV003649018 RCV006643215
NM_017882.3(CLN6):c.934T>C (p.Ter312Arg)	SNV Germline	Chr15:68208142	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Single Submitter	CA392971462	rs_2505400971	1 SubmittersRCV003990192
NM_017882.3(CLN6):c.843G>A (p.Trp281Ter)	SNV Germline	Chr15:68208233	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Single Submitter	CA392971788	rs_2505401316	1 SubmittersRCV003990705
NM_017882.3(CLN6):c.543-1G>A	SNV Germline	Chr15:68209760	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005011887 RCV005112593
NM_017882.3(CLN6):c.516T>A (p.Tyr172Ter)	SNV Germline	Chr15:68211289	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005011888 RCV006637181
NM_017882.3(CLN6):c.199-1G>A	SNV Germline	Chr15:68214389	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Criteria Provided Single Submitter			1 SubmittersRCV005011889
NM_017882.3(CLN6):c.84-2A>G	SNV Germline	Chr15:68218652	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV005125839
NM_017882.3(CLN6):c.685C>T (p.Gln229Ter)	SNV Germline	Chr15:68208391	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV005132380
NM_017882.3(CLN6):c.297+2T>C	SNV Germline	Chr15:68214288	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV005418857
NM_017882.3(CLN6):c.516T>G (p.Tyr172Ter)	SNV Germline	Chr15:68211289	Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A	Criteria Provided Single Submitter			1 SubmittersRCV006637625

SNV
Germline

Chr15:68214373

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA340155

rs_104894483

9 SubmittersRCV000004292 RCV000492979 RCV001067723 RCV002316185 RCV005003333

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

SNV
Germline

Chr15:68211793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA252981

rs_104894484

6 SubmittersRCV000004294 RCV001851638 RCV002468959 RCV005007822

NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter)

SNV
Germline

Chr15:68209639

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A

No Assertion Criteria Provided

CA252984

rs_104894486

1 SubmittersRCV000004299

NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)

SNV
Germline

Chr15:68214387

Pathogenic

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

No Assertion Criteria Provided

CA259850

rs_154774633

2 SubmittersRCV000058909 RCV001787030

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

SNV
Germline

Chr15:68211853

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259851

rs_154774634

8 SubmittersRCV000058911 RCV000675061 RCV001378313 RCV001787031 RCV005003402

NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)

SNV
Germline

Chr15:68218595

Conflicting classifications of pathogenicity

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

No Assertion Criteria Provided

CA259852

rs_154774635

3 SubmittersRCV000058907 RCV000675107 RCV001787032

NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)

SNV
Germline

Chr15:68229568

Pathogenic

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

No Assertion Criteria Provided

CA259853

rs_154774636

2 SubmittersRCV000058915 RCV001787033

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

7 SubmittersRCV000058908 RCV000668229 RCV000702360

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

SNV
Germline

Chr15:68214305

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290141

rs_139261571

5 SubmittersRCV000124337 RCV000632748 RCV002316355

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

SNV
Germline

Chr15:68211822

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290143

rs_146135801

6 SubmittersRCV000124339 RCV000465480 RCV002453447

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

SNV
Germline

Chr15:68211333

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA290145

rs_200775021

3 SubmittersRCV000124341 RCV001116617

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

SNV
Germline

Chr15:68209717

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA290146

rs_144507672

4 SubmittersRCV000124342 RCV000529403 RCV002354313

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

SNV
Germline

Chr15:68208254

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290150

rs_151186473

6 SubmittersRCV000124344 RCV000533512 RCV003390812

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

SNV
Germline

Chr15:68229551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA302669

rs_112239768

16 SubmittersRCV000173024 RCV000677327 RCV000675965 RCV000989355 RCV002312552 RCV003224161

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

SNV
Germline

Chr15:68229532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA238907

rs_547125345

7 SubmittersRCV000187111 RCV000515438 RCV000766779 RCV001085594 RCV002313023 RCV003917602

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)
CLN6-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247303

rs_143578698

13 SubmittersRCV000187108 RCV000515242 RCV000724552 RCV001080133 RCV002054140 RCV003398902 RCV002314666

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
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA313981

rs_143781303

3 SubmittersRCV000187106 RCV001037728 RCV006640434

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.486+2T>C

SNV
Germline

Chr15:68211673

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA313970

rs_796052355

1 SubmittersRCV000187099

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
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Conflicting Classifications

CA313990

rs_150001589

5 SubmittersRCV000187115 RCV000803649 RCV001804924 RCV006640435

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

Criteria Provided
Conflicting Classifications

CA313985

rs_3743088

9 SubmittersRCV000187109 RCV000664477 RCV001082320 RCV001731421 RCV002311263 RCV005003538

NM_017882.3(CLN6):c.198+1G>A

SNV
Germline

Chr15:68218535

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10588592

rs_886039727

1 SubmittersRCV000255264

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_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_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_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_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)
not specified

Criteria Provided
Conflicting Classifications

CA7630447

rs_750937323

5 SubmittersRCV000416280 RCV000675067 RCV001865306 RCV002248651 RCV005238972

NM_017882.3(CLN6):c.167G>A (p.Trp56Ter)

SNV
Germline

Chr15:68218567

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16607854

rs_1057520571

1 SubmittersRCV000420815

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

Criteria Provided
Conflicting Classifications

CA7630612

rs_769701646

6 SubmittersRCV000454168 RCV000499595 RCV001379796 RCV003224283 RCV006640637

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

SNV
Germline

Chr15:68218651

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620001

rs_1064796787

4 SubmittersRCV000484435 RCV002525960 RCV005004187 RCV006640668

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

SNV
Germline

Chr15:68208354

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA392972143

rs_1555438255

3 SubmittersRCV000498748 RCV001203261 RCV006640699

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

SNV
Germline

Chr15:68211716

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7630608

rs_747229909

3 SubmittersRCV000551912 RCV005004218

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

SNV
Germline

Chr15:68229572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA272398366

rs_886285802

7 SubmittersRCV000534403 RCV000665418 RCV000675966 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_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
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A
CLN6-related disorder

Criteria Provided
Conflicting Classifications

CA7630628

rs_201095412

7 SubmittersRCV000595470 RCV000678437 RCV001051368 RCV005004259 RCV005870637

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_017882.3(CLN6):c.679G>A (p.Glu227Lys)

SNV
Germline

Chr15:68208397

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7630488

rs_746753722

6 SubmittersRCV000625854 RCV000799881 RCV005004278

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

SNV
Germline

Chr15:68211685

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA501025

rs_919850756

5 SubmittersRCV000625778 RCV001091348 RCV001868157 RCV002248826 RCV006738264

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_017882.3(CLN6):c.733G>A (p.Val245Ile)

SNV
Germline

Chr15:68208343

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7630480

rs_377192977

2 SubmittersRCV000632688 RCV005051808

NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)

SNV
Germline

Chr15:68211299

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA392973186

rs_1344658850

4 SubmittersRCV000667257 RCV006452819 RCV006463839 RCV006695624

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

SNV
Germline

Chr15:68218550

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA392975522

rs_1451777867

4 SubmittersRCV000670264 RCV000689116

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

SNV
Germline

Chr15:68211674

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7630602

rs_756522171

7 SubmittersRCV000671252 RCV001868252 RCV002317912 RCV002499177 RCV004754526 RCV005901491

NM_017882.3(CLN6):c.83+2T>G

SNV
Germline

Chr15:68229500

Likely pathogenic

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

Criteria Provided
Single Submitter

CA392978037

rs_1555440188

2 SubmittersRCV000666571 RCV005010652

NM_017882.3(CLN6):c.1A>G (p.Met1Val)

SNV
Unknown

Chr15:68229584

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

No Assertion Criteria Provided

CA392978403

rs_1555440206

1 SubmittersRCV000672905

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

SNV
Germline

Chr15:68208239

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392971810

rs_1555438212

2 SubmittersRCV000672314 RCV002532122

NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)

SNV
Unknown

Chr15:68209637

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

No Assertion Criteria Provided

CA392972778

rs_1555438411

1 SubmittersRCV000665609

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

SNV
Germline

Chr15:68209759

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973070

rs_1555438443

2 SubmittersRCV000666578 RCV002530689

NM_017882.3(CLN6):c.542+1G>T

SNV
Unknown

Chr15:68211262

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

No Assertion Criteria Provided

CA392973080

rs_1555438614

1 SubmittersRCV000669509

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

SNV
Germline

Chr15:68208180

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7630448

rs_758921701

5 SubmittersRCV000665887 RCV001855448 RCV002485526 RCV004568496

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

SNV
Germline

Chr15:68209640

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630517

rs_764571295

8 SubmittersRCV000678441 RCV001861858

NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)

SNV
Germline

Chr15:68211736

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA392973433

rs_1227254537

2 SubmittersRCV002317588 RCV003388596

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

SNV
Germline

Chr15:68208278

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630470

rs_140319056

2 SubmittersRCV000730801 RCV001082640

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

SNV
Germline

Chr15:68208355

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7630482

rs_753994750

5 SubmittersRCV000731367 RCV005004392 RCV003647804

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

SNV
Germline

Chr15:68229502

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA392978054

rs_1381427322

2 SubmittersRCV000761549 RCV003479215

NM_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
Ceroid lipofuscinosis, neuronal, 6A
Retinal disorder

Criteria Provided
Conflicting Classifications

CA272384618

rs_1012449574

6 SubmittersRCV000813418 RCV002249523 RCV003145176 RCV006642657 RCV006646490

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

SNV
Germline

Chr15:68214393

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7630670

rs_371705916

6 SubmittersRCV001084695 RCV000864156 RCV002415998

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

SNV
Germline

Chr15:68208245

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7630463

rs_753344266

4 SubmittersRCV000868299 RCV001655622 RCV002427156

NM_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

CA491099995

rs_1195840845

3 SubmittersRCV000895302 RCV001501377 RCV002390878

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

SNV
Germline

Chr15:68209640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7630516

rs_764571295

5 SubmittersRCV001004876 RCV002549262 RCV005004478

NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)

SNV
Germline

Chr15:68211263

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973084

rs_1380684360

1 SubmittersRCV001042074

NM_017882.3(CLN6):c.199-2A>G

SNV
Germline

Chr15:68214390

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392974522

rs_1471253353

1 SubmittersRCV001043252

NM_017882.3(CLN6):c.*42T>G

SNV
Germline

Chr15:68208098

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7630426

rs_754655363

2 SubmittersRCV001119503 RCV001619887

NM_017882.3(CLN6):c.597C>G (p.Ala199=)

SNV
Germline

Chr15:68209705

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA7630525

rs_368546281

2 SubmittersRCV001121504

NM_017882.3(CLN6):c.-38C>T

SNV
Germline

Chr15:68229622

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7630736

rs_756496671

2 SubmittersRCV001121602 RCV001638041

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

SNV
Germline

Chr15:68229491

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA1139664049

rs_2093262385

2 SubmittersRCV001118066

NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)

SNV
Germline

Chr15:68208301

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7630474

rs_150363441

8 SubmittersRCV001235065 RCV001375037 RCV001561994 RCV002246224 RCV002563820

NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter)

SNV
Germline

Chr15:68208407

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA392972376

rs_374271754

1 SubmittersRCV001254802

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

SNV
Unknown

Chr15:68211306

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973205

rs_2093204342

1 SubmittersRCV006694963

NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)

SNV
Unknown

Chr15:68211734

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973428

rs_2093205953

1 SubmittersRCV006694964

NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)

SNV
Unknown

Chr15:68214369

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392974482

rs_2093214695

1 SubmittersRCV006694965

NM_017882.3(CLN6):c.506T>A (p.Leu169His)

SNV
Germline

Chr15:68211299

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA392973187

rs_1344658850

2 SubmittersRCV001314504 RCV002246295

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

SNV
Germline

Chr15:68229582

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA392978388

rs_2093262869

4 SubmittersRCV001316419 RCV005005165 RCV006636809

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

SNV
Germline

Chr15:68209636

Likely pathogenic

Spastic ataxia
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Multiple Submitters
No Conflicts

CA392972775

rs_796052356

2 SubmittersRCV001647223 RCV005005179

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

SNV
Germline

Chr15:68208353

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Conflicting Classifications

CA272382848

rs_149262877

3 SubmittersRCV001330791

NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)

SNV
Germline

Chr15:68211724

Conflicting classifications of pathogenicity

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Conflicting Classifications

CA392973404

rs_1595818249

2 SubmittersRCV001330790

NM_017882.3(CLN6):c.338C>T (p.Thr113Met)

SNV
Germline

Chr15:68211823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7630621

rs_758830997

2 SubmittersRCV001365750 RCV002246341

NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)

SNV
Germline

Chr15:68211850

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Conflicting Classifications

CA392973689

rs_777921628

3 SubmittersRCV001368706 RCV003388608

NM_017882.3(CLN6):c.514T>C (p.Tyr172His)

SNV
Germline

Chr15:68211291

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392973163

rs_2141138753

2 SubmittersRCV001374417 RCV004697124

NM_017882.3(CLN6):c.818T>C (p.Val273Ala)

SNV
Germline

Chr15:68208258

Likely pathogenic

Neurodevelopmental disorder

Criteria Provided
Single Submitter

CA392971871

rs_2141135967

1 SubmittersRCV001374905

NM_017882.3(CLN6):c.782T>C (p.Phe261Ser)

SNV
Germline

Chr15:68208294

Likely pathogenic

Neurodevelopmental disorder

Criteria Provided
Single Submitter

CA392971959

rs_2141136011

1 SubmittersRCV001374904

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

SNV
Germline

Chr15:68209761

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973075

rs_2141137336

1 SubmittersRCV001377170

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

SNV
Germline

Chr15:68211674

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973299

rs_756522171

1 SubmittersRCV001377046

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

SNV
Germline

Chr15:68208308

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7630475

rs_760271120

6 SubmittersRCV001385144 RCV001560278 RCV005005235 RCV005411738

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

CA7630669

rs_767945732

2 SubmittersRCV001503429 RCV002567961

NM_017882.3(CLN6):c.83+1G>C

SNV
Germline

Chr15:68229501

Likely pathogenic

Abnormality of the nervous system
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA392978046

rs_2141156157

2 SubmittersRCV001814357 RCV006637037

NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys)

SNV
Germline

Chr15:68208192

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

CA392971642

rs_2141135900

1 SubmittersRCV001814583

NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)

SNV
Germline

Chr15:68214291

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA272387628

rs_146782642

5 SubmittersRCV001543159 RCV002032545 RCV002568264 RCV005253859 RCV005005956

NM_017882.3(CLN6):c.103G>A (p.Asp35Asn)

SNV
Germline

Chr15:68218631

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7630712

rs_533231370

3 SubmittersRCV001551476 RCV002032586 RCV002388586

NM_017882.3(CLN6):c.896C>A (p.Pro299His)

SNV
Germline

Chr15:68208180

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

CA392971597

rs_758921701

1 SubmittersRCV001572615

NM_017882.3(CLN6):c.144G>A (p.Trp48Ter)

SNV
Germline

Chr15:68218590

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA392975698

rs_2141145074

1 SubmittersRCV001780516

NM_017882.3(CLN6):c.350T>G (p.Ile117Ser)

SNV
Germline

Chr15:68211811

Pathogenic

Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

No Assertion Criteria Provided

CA7630618

rs_752212030

1 SubmittersRCV001787284

NM_017882.3(CLN6):c.298-1G>C

SNV
Germline

Chr15:68211864

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973747

rs_1595818391

1 SubmittersRCV001976008

NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)

SNV
Germline

Chr15:68214290

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA392974308

rs_1275614219

2 SubmittersRCV002465019

NM_017882.3(CLN6):c.814C>G (p.Leu272Val)

SNV
Germline

Chr15:68208262

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA392971883

rs_755397770

3 SubmittersRCV003087401 RCV004700939 RCV005010980

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

SNV
Germline

Chr15:68208353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA272382849

rs_149262877

4 SubmittersRCV003110441 RCV003162121 RCV003992743 RCV006641277

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

SNV
Germline

Chr15:68211261

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973079

rs_2505407519

1 SubmittersRCV002643509

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

SNV
Germline

Chr15:68208249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA392971843

rs_2505401392

2 SubmittersRCV002800775 RCV005002887

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

SNV
Germline

Chr15:68214368

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392974477

rs_2505414959

1 SubmittersRCV002999989

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

SNV
Germline

Chr15:68211295

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973176

rs_2505407693

1 SubmittersRCV003022019

NM_017882.3(CLN6):c.843G>C (p.Trp281Cys)

SNV
Germline

Chr15:68208233

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA392971786

rs_2505401316

1 SubmittersRCV003329897

NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)

SNV
Germline

Chr15:68214309

Pathogenic

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

CA392974347

rs_150001589

1 SubmittersRCV003388913

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

SNV
Germline

Chr15:68211819

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973612

rs_765719755

1 SubmittersRCV003533894

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

SNV
Germline

Chr15:68211735

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973431

rs_768766915

1 SubmittersRCV003531570

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

SNV
Germline

Chr15:68211319

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392973240

rs_2093204407

1 SubmittersRCV003648264

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

SNV
Germline

Chr15:68229584

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392978407

rs_1555440206

1 SubmittersRCV003648265

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

SNV
Germline

Chr15:68209701

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA392972912

rs_587780316

1 SubmittersRCV003648401

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

SNV
Germline

Chr15:68218566

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA392975565

rs_1477757203

2 SubmittersRCV003649018 RCV006643215

NM_017882.3(CLN6):c.934T>C (p.Ter312Arg)

SNV
Germline

Chr15:68208142

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

CA392971462

rs_2505400971

1 SubmittersRCV003990192

NM_017882.3(CLN6):c.843G>A (p.Trp281Ter)

SNV
Germline

Chr15:68208233

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

CA392971788

rs_2505401316

1 SubmittersRCV003990705

NM_017882.3(CLN6):c.543-1G>A

SNV
Germline

Chr15:68209760

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005011887 RCV005112593

NM_017882.3(CLN6):c.516T>A (p.Tyr172Ter)

SNV
Germline

Chr15:68211289

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005011888 RCV006637181

NM_017882.3(CLN6):c.199-1G>A

SNV
Germline

Chr15:68214389

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005011889

NM_017882.3(CLN6):c.84-2A>G

SNV
Germline

Chr15:68218652

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005125839

NM_017882.3(CLN6):c.685C>T (p.Gln229Ter)

SNV
Germline

Chr15:68208391

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005132380

NM_017882.3(CLN6):c.297+2T>C

SNV
Germline

Chr15:68214288

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005418857

NM_017882.3(CLN6):c.516T>G (p.Tyr172Ter)

SNV
Germline

Chr15:68211289

Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A

Criteria Provided
Single Submitter

1 SubmittersRCV006637625