Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)	SNV Germline	Chr13:110170583	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Single Submitter	CA341444	rs_113994112	3 SubmittersRCV002247361 RCV002247360
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)	SNV Germline	Chr13:110179370	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Single Submitter	CA341446	rs_113994109	4 SubmittersRCV002247362 RCV003226898
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu)	SNV Germline	Chr13:110187181	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA257927	rs_121912857	1 SubmittersRCV002247363
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu)	SNV Germline	Chr13:110307027	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA341448	rs_113994103	2 SubmittersRCV002247364
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp)	SNV Germline	Chr13:110174463	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA341450	rs_113994111	2 SubmittersRCV002247365
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg)	SNV Germline	Chr13:110162425	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA341452	rs_113994113	2 SubmittersRCV002247366
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val)	SNV Germline	Chr13:110192257	Pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	No Assertion Criteria Provided	CA341454	rs_113994104	2 SubmittersRCV000018961
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg)	SNV Germline	Chr13:110187311	Pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	No Assertion Criteria Provided	CA341456	rs_113994105	2 SubmittersRCV000018962
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu)	SNV Germline	Chr13:110187283	Pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	No Assertion Criteria Provided	CA341458	rs_113994106	2 SubmittersRCV000018963
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp)	SNV Germline	Chr13:110181326	Pathogenic	Developmental cataract Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder	Criteria Provided Single Submitter	CA343273	rs_113994108	4 SubmittersRCV001775002 RCV002247367 RCV006249561
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg)	SNV Germline	Chr13:110155300	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA341460	rs_113994114	2 SubmittersRCV002247368
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg)	SNV Germline	Chr13:110192258	Pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	No Assertion Criteria Provided	CA257929	rs_267606744	1 SubmittersRCV000018966
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg)	SNV Germline	Chr13:110192222	Pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity	No Assertion Criteria Provided	CA199539	rs_267606743	1 SubmittersRCV000018967 RCV000170340
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)	SNV Germline	Chr13:110201467	Conflicting classifications of pathogenicity	Hemorrhage, intracerebral, susceptibility to Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA130652	rs_200786329	6 SubmittersRCV000033090 RCV000710795 RCV000989165 RCV002247414
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg)	SNV Germline	Chr13:110166277	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Single Submitter	CA156200	rs_587777379	2 SubmittersRCV002247500 RCV003556166
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)	SNV Germline	Chr13:110183002	Pathogenic	Condition: not provided Cerebral calcification Intracranial hemorrhage Abnormal corpus callosum morphology Intraventricular hemorrhage Brain small vessel disease 1 with or without ocular anomalies Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity	Criteria Provided Multiple Submitters No Conflicts	CA269925	rs_587780588	7 SubmittersRCV000398907 RCV001030993 RCV001391278 RCV002247502 RCV006250119
NM_001845.6(COL4A1):c.2194-1G>A	SNV Germline	Chr13:110179422	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA272996	rs_606231465	1 SubmittersRCV002247543
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)	SNV Germline	Chr13:110179352	Pathogenic	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA273009	rs_672601346	8 SubmittersRCV000710799 RCV000989163 RCV002247544 RCV004019794
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg)	SNV Germline	Chr13:110179298	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA273011	rs_672601347	1 SubmittersRCV002247545
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys)	SNV Germline	Chr13:110152381	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA273013	rs_672601348	1 SubmittersRCV002247546
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg)	SNV Germline	Chr13:110181363	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA273015	rs_672601349	1 SubmittersRCV002247547
NM_001845.6(COL4A1):c.1466-6C>T	SNV Germline	Chr13:110192290	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder Inborn genetic diseases Uterine carcinosarcoma not specified	Criteria Provided Conflicting Classifications	CA242433	rs_183563055	10 SubmittersRCV000176471 RCV000383787 RCV002247584 RCV004537400 RCV005801746 RCV005889881 RCV006439703
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)	SNV Germline	Chr13:110187278	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Schizencephaly Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity Hemorrhage, intracerebral, susceptibility to Brain small vessel disease 1 with or without ocular anomalies Inborn genetic diseases COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA242533	rs_145172612	9 SubmittersRCV000176542 RCV000323259 RCV000763877 RCV002247585 RCV004020096 RCV004537407
NM_001845.6(COL4A1):c.1897+7C>G	SNV Germline	Chr13:110186378	Conflicting classifications of pathogenicity	Condition: not provided Proteinuria	Criteria Provided Conflicting Classifications	CA242671	rs_773791331	3 SubmittersRCV000176642 RCV005621900
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)	SNV Germline	Chr13:110213999	Conflicting classifications of pathogenicity	not specified Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Optic nerve hypoplasia Condition: not provided Chronic kidney disease Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA202302	rs_34004222	12 SubmittersRCV000177132 RCV000378889 RCV000677255 RCV000877903 RCV001171323 RCV002247587 RCV004739560
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)	SNV Germline	Chr13:110178120	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA244146	rs_145861489	7 SubmittersRCV000177640 RCV005540021 RCV004539653
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)	SNV Germline	Chr13:110176691	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA244774	rs_146288748	5 SubmittersRCV000177838 RCV001113526 RCV002247589
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)	SNV Germline	Chr13:110178196	Pathogenic/Likely pathogenic	Inborn genetic diseases Condition: not provided Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA204636	rs_797044867	8 SubmittersRCV000190674 RCV001532731 RCV002283465 RCV002247615 RCV003335188
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)	SNV Germline	Chr13:110177896	Pathogenic/Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided COL4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA276133	rs_797045034	6 SubmittersRCV000191072 RCV001090428 RCV004739575
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser)	SNV Germline	Chr13:110209409	Conflicting classifications of pathogenicity	Condition: not provided Anterior segment dysgenesis Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA10581361	rs_878853070	7 SubmittersRCV000224555 RCV001200033 RCV003223398 RCV005868139
NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp)	SNV Germline	Chr13:110177886	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10603181	rs_886041965	1 SubmittersRCV000287557
NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val)	SNV Germline	Chr13:110166276	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10603335	rs_886041714	1 SubmittersRCV000341462
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=)	SNV Germline	Chr13:110164914	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7047019	rs_757948524	2 SubmittersRCV000335844
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=)	SNV Germline	Chr13:110170698	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7047198	rs_768381482	2 SubmittersRCV000387674
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)	SNV Germline	Chr13:110307021	Conflicting classifications of pathogenicity	Condition: not provided Schizencephaly Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Inborn genetic diseases COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7048689	rs_751749989	11 SubmittersRCV000726352 RCV000763878 RCV001731568 RCV002248510 RCV004975403 RCV004739663
NM_001845.6(COL4A1):c.4021+14T>A	SNV Germline	Chr13:110166218	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA10633828	rs_755709828	2 SubmittersRCV000352904 RCV002056342 RCV002248546
NM_001845.6(COL4A1):c.3742+14G>A	SNV Germline	Chr13:110170533	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047160	rs_377503687	2 SubmittersRCV000332440 RCV002056344 RCV002248552
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)	SNV Germline	Chr13:110162250	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7046939	rs_376607450	4 SubmittersRCV000400783 RCV001531807 RCV002248539
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)	SNV Germline	Chr13:110162421	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7046965	rs_760889798	3 SubmittersRCV000273763 RCV002248541 RCV002522263 RCV004975430
NM_001845.6(COL4A1):c.4150+3G>A	SNV Germline	Chr13:110164859	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA7047013	rs_545498227	3 SubmittersRCV000291784 RCV002248544 RCV001726106
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)	SNV Germline	Chr13:110170655	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies not specified	Criteria Provided Conflicting Classifications	CA7047189	rs_199557190	6 SubmittersRCV000379128 RCV000991611 RCV002248553 RCV003401312
NM_001845.6(COL4A1):c.3557-14T>C	SNV Germline	Chr13:110170746	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA10638947	rs_886049957	2 SubmittersRCV000339737 RCV002248554 RCV002522264
NM_001845.6(COL4A1):c.2869+6T>C	SNV Germline	Chr13:110176879	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7047475	rs_557198622	4 SubmittersRCV000349879 RCV001850642 RCV002248565 RCV005008293 RCV004537762
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)	SNV Germline	Chr13:110177852	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA7047511	rs_754208625	2 SubmittersRCV000402079 RCV002248567 RCV002520855
NM_001845.6(COL4A1):c.2095+7C>G	SNV Germline	Chr13:110182986	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA10638957	rs_886049961	2 SubmittersRCV000321051 RCV002248576 RCV003765816
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)	SNV Germline	Chr13:110162251	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity	Criteria Provided Conflicting Classifications	CA7046940	rs_199586038	5 SubmittersRCV000485934 RCV000391017 RCV002248540 RCV004529552 RCV005008292
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=)	SNV Germline	Chr13:110164974	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047035	rs_372556002	3 SubmittersRCV000349260 RCV001531808 RCV002248545
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)	SNV Germline	Chr13:110173974	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047263	rs_769021800	5 SubmittersRCV000311898 RCV002056345 RCV002248556 RCV004021561
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)	SNV Germline	Chr13:110178066	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047543	rs_201964644	6 SubmittersRCV000363989 RCV000904627 RCV002248569
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=)	SNV Germline	Chr13:110179353	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA10642791	rs_750538499	2 SubmittersRCV000318924 RCV002248571 RCV002522265
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)	SNV Germline	Chr13:110181359	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047693	rs_150129180	4 SubmittersRCV000880929 RCV004975431
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg)	SNV Germline	Chr13:110203571	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity	Criteria Provided Conflicting Classifications	CA7048174	rs_150182714	5 SubmittersRCV000274422 RCV001859863 RCV002248584 RCV005003636
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)	SNV Germline	Chr13:110212475	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Inborn genetic diseases Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7048557	rs_138269346	8 SubmittersRCV000329791 RCV001557741 RCV002522266 RCV002248598 RCV004739679
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)	SNV Germline	Chr13:110166243	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047067	rs_189728415	3 SubmittersRCV000267397 RCV001569643 RCV002248547
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)	SNV Germline	Chr13:110175252	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7047369	rs_375787099	6 SubmittersRCV000392822 RCV001850641 RCV002248561 RCV004739678
NM_001845.6(COL4A1):c.2344+11G>A	SNV Germline	Chr13:110179260	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA10643738	rs_886049960	2 SubmittersRCV000333995 RCV002248570 RCV002056347
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)	SNV Germline	Chr13:110186424	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7047812	rs_372803920	5 SubmittersRCV000291100 RCV002248578 RCV001840485 RCV004800383
NM_001845.6(COL4A1):c.-103G>A	SNV Germline	Chr13:110307130	Conflicting classifications of pathogenicity	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA10643749	rs_538721412	2 SubmittersRCV002248605 RCV002262971
NM_001845.6(COL4A1):c.3797G>A (p.Gly1266Asp)	SNV Germline	Chr13:110169708	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16042819	rs_1057518100	1 SubmittersRCV000414372
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys)	SNV Germline	Chr13:110205367	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA16042820	rs_1057517719	2 SubmittersRCV000414476
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=)	SNV Germline	Chr13:110172721	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA16043683	rs_1057518654	1 SubmittersRCV002248650
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg)	SNV Germline	Chr13:110209988	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA16043839	rs_1057519191	3 SubmittersRCV000415853
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg)	SNV Germline	Chr13:110174740	Pathogenic/Likely pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA16606387	rs_1057523325	2 SubmittersRCV000442463 RCV003988844
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	SNV Germline	Chr13:110179298	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity COL4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16606390	rs_672601347	9 SubmittersRCV000437521 RCV000623415 RCV002283479 RCV002502498 RCV004739722
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)	SNV Germline	Chr13:110179387	Pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16606631	rs_1057523354	2 SubmittersRCV000429348 RCV002248658
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)	SNV Germline	Chr13:110167161	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder not specified	Criteria Provided Conflicting Classifications	CA7047098	rs_377122126	7 SubmittersRCV001114723 RCV001721546 RCV002248697 RCV004535495 RCV005434957
NM_001845.6(COL4A1):c.2627-1G>A	SNV Germline	Chr13:110177932	Conflicting classifications of pathogenicity	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA16619612	rs_1064796811	2 SubmittersRCV000478673 RCV003388836
NM_001845.6(COL4A1):c.2282G>T (p.Gly761Val)	SNV Germline	Chr13:110179333	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16619613	rs_1064795130	2 SubmittersRCV000486066
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp)	SNV Germline	Chr13:110181389	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA16619614	rs_1064795935	2 SubmittersRCV000479520 RCV000624754
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val)	SNV Germline	Chr13:110186462	Conflicting classifications of pathogenicity	Condition: not provided COL4A1-related disorder Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Conflicting Classifications	CA7047821	rs_148781420	5 SubmittersRCV000486979 RCV004535533 RCV005004186
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser)	SNV Germline	Chr13:110186481	Pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA16619615	rs_1064794777	3 SubmittersRCV000480157 RCV004584728
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)	SNV Germline	Chr13:110205388	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases COL4A1-related disorder Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Melanoma Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Conflicting Classifications	CA7048216	rs_370677625	7 SubmittersRCV000478856 RCV002525922 RCV003762750 RCV005010396 RCV005899663 RCV006254068
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu)	SNV Germline	Chr13:110161249	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA388657213	rs_1085307967	2 SubmittersRCV000489140
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg)	SNV Germline	Chr13:110169745	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388662034	rs_1085307614	2 SubmittersRCV000489882
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg)	SNV Germline	Chr13:110170574	Pathogenic	Condition: not provided Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Single Submitter	CA388662309	rs_1085307709	3 SubmittersRCV000489551 RCV001824139
NM_001845.6(COL4A1):c.3611G>A (p.Gly1204Glu)	SNV Germline	Chr13:110170678	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662728	rs_1085307907	1 SubmittersRCV000489733
NM_001845.6(COL4A1):c.3497G>T (p.Gly1166Val)	SNV Germline	Chr13:110173908	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664114	rs_1085307982	1 SubmittersRCV000489567
NM_001845.6(COL4A1):c.3371G>A (p.Gly1124Glu)	SNV Germline	Chr13:110174481	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664390	rs_1085307568	1 SubmittersRCV000490152
NM_001845.6(COL4A1):c.324+1G>A	SNV Germline	Chr13:110212573	Pathogenic	Condition: not provided Uterine corpus endometrial carcinoma	Criteria Provided Single Submitter	CA388726515	rs_1085307816	2 SubmittersRCV000490067 RCV005899717
NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg)	SNV Germline	Chr13:110187236	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388723047	rs_1131691834	1 SubmittersRCV000493871
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)	SNV Germline	Chr13:110183010	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388669073	rs_1555303720	2 SubmittersRCV002248739 RCV003322607
NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val)	SNV Germline	Chr13:110175312	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA388665600	rs_1555302922	1 SubmittersRCV002248744
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)	SNV Germline	Chr13:110186444	Conflicting classifications of pathogenicity	not specified Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047817	rs_146091004	4 SubmittersRCV000517036 RCV001109408 RCV001313192 RCV002248749
NM_001845.6(COL4A1):c.553-10T>C	SNV Germline	Chr13:110210052	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7048444	rs_370673476	2 SubmittersRCV000517488 RCV002060236
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)	SNV Germline	Chr13:110210163	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity	Criteria Provided Conflicting Classifications	CA7048467	rs_567124920	3 SubmittersRCV000516220 RCV002506249
NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp)	SNV Germline	Chr13:110192257	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388723400	rs_113994104	1 SubmittersRCV000523396
NM_001845.6(COL4A1):c.3556+1G>T	SNV Germline	Chr13:110172719	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388663683	rs_1555302645	1 SubmittersRCV000578931
NM_001845.6(COL4A1):c.1085-2A>G	SNV Germline	Chr13:110200891	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388724304	rs_1555305593	1 SubmittersRCV000578656
NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)	SNV Germline	Chr13:110176912	Pathogenic	Optic nerve hypoplasia	Criteria Provided Single Submitter	CA388666800	rs_1555303073	1 SubmittersRCV000590892
NM_001845.6(COL4A1):c.4640+3G>T	SNV Germline	Chr13:110161189	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7046883	rs_770167198	4 SubmittersRCV000610386 RCV001092921
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)	SNV Germline	Chr13:110150392	Conflicting classifications of pathogenicity	Inborn genetic diseases Brain small vessel disease 1 with or without ocular anomalies Condition: not provided COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA388653526	rs_1555300086	4 SubmittersRCV000623377 RCV002255156 RCV002532839 RCV006249659
NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu)	SNV Germline	Chr13:110170615	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388662455	rs_1555302454	1 SubmittersRCV000623927
NM_001845.6(COL4A1):c.3505+1G>A	SNV Germline	Chr13:110173899	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388664097	rs_1555302735	1 SubmittersRCV000624886
NM_001845.6(COL4A1):c.3067G>A (p.Gly1023Arg)	SNV Germline	Chr13:110175349	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388665678	rs_1555302942	1 SubmittersRCV000624384
NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu)	SNV Germline	Chr13:110176450	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388665765	rs_1555303010	1 SubmittersRCV000624047
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)	SNV Germline	Chr13:110186475	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Congenital anomaly of kidney and urinary tract Brain small vessel disease 1 with or without ocular anomalies Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7047822	rs_747585517	7 SubmittersRCV000625809 RCV001529466 RCV001849420 RCV005367458 RCV005004277
NM_001845.6(COL4A1):c.3683G>T (p.Gly1228Val)	SNV Germline	Chr13:110170606	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662422	rs_1555302449	1 SubmittersRCV000657973
NM_001845.6(COL4A1):c.2T>A (p.Met1Lys)	SNV Germline	Chr13:110307026	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388732804	rs_1555318328	1 SubmittersRCV000658682
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu)	SNV Germline	Chr13:110174712	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664684	rs_1566349968	1 SubmittersRCV000710802
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)	SNV Germline	Chr13:110175246	Conflicting classifications of pathogenicity	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Hemorrhage, intracerebral, susceptibility to COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7047368	rs_569940067	4 SubmittersRCV000710801 RCV003221303 RCV005010718 RCV005223134
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp)	SNV Germline	Chr13:110179324	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388668629	rs_1566353677	2 SubmittersRCV000710800
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)	SNV Germline	Chr13:110201466	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to	Criteria Provided Conflicting Classifications	CA7048106	rs_531373470	5 SubmittersRCV000710796 RCV001109523 RCV002249432 RCV005004383
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val)	SNV Germline	Chr13:110201482	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388724404	rs_1566370178	1 SubmittersRCV000710794
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala)	SNV Germline	Chr13:110210041	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388725547	rs_1566376798	2 SubmittersRCV000722466
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)	SNV Germline	Chr13:110176635	Pathogenic/Likely pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388666130	rs_1566351456	2 SubmittersRCV000761859 RCV003227850
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg)	SNV Germline	Chr13:110192857	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to	Criteria Provided Conflicting Classifications	CA388723524	rs_1461754052	4 SubmittersRCV000770969 RCV001855735 RCV005357994 RCV005004408
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg)	SNV Germline	Chr13:110181300	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388668850	rs_1594555106	1 SubmittersRCV002249490
NM_001845.6(COL4A1):c.2969G>T (p.Gly990Val)	SNV Germline	Chr13:110176513	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388666026	rs_1594550371	1 SubmittersRCV000822448
NM_001845.6(COL4A1):c.*35C>A	SNV Germline	Chr13:110150328	Pathogenic	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	No Assertion Criteria Provided	CA1139663085	rs_1876438936	1 SubmittersRCV000850144
NM_001845.6(COL4A1):c.*31G>T	SNV Germline	Chr13:110150332	Pathogenic	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Condition: not provided	Criteria Provided Single Submitter	CA2499221945	rs_2138415342	2 SubmittersRCV000850145 RCV006464519
NM_001845.6(COL4A1):c.*32G>T	SNV Germline	Chr13:110150331	Pathogenic	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Condition: not provided	Criteria Provided Single Submitter	CA2118723145	rs_1876439052	2 SubmittersRCV000850146 RCV002536170
NM_001845.6(COL4A1):c.*32G>A	SNV Germline	Chr13:110150331	Likely pathogenic	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA2499221944	rs_1876439052	2 SubmittersRCV000850147 RCV002307636
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser)	SNV Germline	Chr13:110177854	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7047513	rs_779350720	3 SubmittersRCV000952639 RCV002489312
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu)	SNV Germline	Chr13:110178148	Conflicting classifications of pathogenicity	Condition: not provided COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7047560	rs_144207910	5 SubmittersRCV000952211 RCV004533660
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp)	SNV Germline	Chr13:110192869	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies not specified	Criteria Provided Conflicting Classifications	CA7047940	rs_369960952	4 SubmittersRCV000893926 RCV001112180 RCV002249572 RCV005436276
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=)	SNV Germline	Chr13:110178173	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Conflicting Classifications	CA7047565	rs_773443475	4 SubmittersRCV000942644 RCV001109303 RCV002249581 RCV005004470
NM_001845.6(COL4A1):c.1092A>T (p.Pro364=)	SNV Germline	Chr13:110200882	Conflicting classifications of pathogenicity	Condition: not provided Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to	Criteria Provided Conflicting Classifications	CA7048056	rs_141208458	2 SubmittersRCV000933205 RCV005004469
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)	SNV Germline	Chr13:110177853	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7047512	rs_146134172	7 SubmittersRCV000983902 RCV001114940 RCV002249594 RCV004536007
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)	SNV Germline	Chr13:110186547	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047836	rs_141527136	7 SubmittersRCV000981715 RCV001664585 RCV003169512
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser)	SNV Germline	Chr13:110212437	Conflicting classifications of pathogenicity	Condition: not provided COL4A1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7048548	rs_138503916	5 SubmittersRCV000981670 RCV004543661 RCV004973224
NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg)	SNV Unknown	Chr13:110186448	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388722639	rs_1594560766	1 SubmittersRCV000989164
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)	SNV Germline	Chr13:110177889	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047519	rs_139859950	5 SubmittersRCV000991609 RCV005801966
NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg)	SNV Germline	Chr13:110176912	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388666798	rs_1555303073	1 SubmittersRCV002249672
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)	SNV Germline	Chr13:110164967	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047032	rs_761077330	5 SubmittersRCV001092923 RCV002554858
NM_001845.6(COL4A1):c.3995G>A (p.Gly1332Asp)	SNV Germline	Chr13:110166258	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388660555	rs_1877331560	1 SubmittersRCV001090423
NM_001845.6(COL4A1):c.3932G>A (p.Gly1311Glu)	SNV Germline	Chr13:110167175	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388661206	rs_1877384330	2 SubmittersRCV001090424
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala)	SNV Germline	Chr13:110167202	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA388661319	rs_1877385413	2 SubmittersRCV001090425
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)	SNV Germline	Chr13:110174641	Pathogenic/Likely pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388664534	rs_1877796698	5 SubmittersRCV001090427 RCV006449280
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)	SNV Germline	Chr13:110183080	Pathogenic/Likely pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA388722266	rs_1878248687	10 SubmittersRCV001090430 RCV002271619 RCV003763804
NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu)	SNV Germline	Chr13:110181353	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA388668953	rs_1878142219	1 SubmittersRCV002249683
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)	SNV Germline	Chr13:110177917	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Congenital anomaly of kidney and urinary tract Brain small vessel disease 1 with or without ocular anomalies Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7047525	rs_775563545	5 SubmittersRCV001114942 RCV001849473 RCV002249727 RCV003718333 RCV005005048
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)	SNV Germline	Chr13:110179282	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047638	rs_750620293	5 SubmittersRCV001111628 RCV002249712 RCV002556176 RCV005802016
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)	SNV Germline	Chr13:110179330	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7047648	rs_374930028	8 SubmittersRCV001111630 RCV001357253 RCV002249713 RCV004032166 RCV005432583
NM_001845.6(COL4A1):c.1752G>A (p.Glu584=)	SNV Germline	Chr13:110186530	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA7047835	rs_765423555	2 SubmittersRCV001111731 RCV002249700 RCV005093507
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=)	SNV Germline	Chr13:110187261	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047871	rs_139448202	2 SubmittersRCV001111733 RCV002069804 RCV002249714
NM_001845.6(COL4A1):c.1470C>T (p.Phe490=)	SNV Germline	Chr13:110192280	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7047909	rs_749215704	3 SubmittersRCV001112176 RCV002249717 RCV005408701 RCV006465387
NM_001845.6(COL4A1):c.-90G>A	SNV Germline	Chr13:110307117	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA256274491	rs_113651836	2 SubmittersRCV001113807 RCV002249702 RCV003396751
NM_001845.6(COL4A1):c.2344+12C>A	SNV Germline	Chr13:110179259	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047636	rs_373696600	2 SubmittersRCV001111626 RCV002069801 RCV002249711
NM_001845.6(COL4A1):c.234+9G>A	SNV Germline	Chr13:110213917	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA256246008	rs_374115295	2 SubmittersRCV001112015 RCV002069809 RCV002249716
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala)	SNV Germline	Chr13:110183005	Conflicting classifications of pathogenicity	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA388669067	rs_1878244032	2 SubmittersRCV002249783 RCV002559259
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg)	SNV Germline	Chr13:110186553	Conflicting classifications of pathogenicity	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA256265043	rs_752009614	5 SubmittersRCV002249782 RCV001859190
NM_001845.6(COL4A1):c.4151G>A (p.Gly1384Asp)	SNV Germline	Chr13:110163561	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388659509	rs_1877185960	2 SubmittersRCV001281220 RCV005094191
NM_001845.6(COL4A1):c.3112G>A (p.Gly1038Ser)	SNV Germline	Chr13:110175304	Pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388665587	rs_1877832657	1 SubmittersRCV001281219
NM_001845.6(COL4A1):c.1793G>T (p.Gly598Val)	SNV Germline	Chr13:110186489	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388722711	rs_1878411691	1 SubmittersRCV001281217
NM_001845.6(COL4A1):c.3068G>C (p.Gly1023Ala)	SNV Germline	Chr13:110175348	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388665674	rs_1877834934	1 SubmittersRCV001251513
NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu)	SNV Germline	Chr13:110174640	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388664530	rs_1877796592	1 SubmittersRCV002246242
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser)	SNV Germline	Chr13:110169673	Conflicting classifications of pathogenicity	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA7047131	rs_757453900	3 SubmittersRCV002246243 RCV002568742
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu)	SNV Germline	Chr13:110178931	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388668255	rs_1878013473	1 SubmittersRCV002246246
NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys)	SNV Germline	Chr13:110152419	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies See cases COL4A1-related disorder	Criteria Provided Single Submitter	CA388654322	rs_1876543576	2 SubmittersRCV002246256 RCV003153965 RCV004727057
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser)	SNV Germline	Chr13:110172720	Likely pathogenic	Microcephaly Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388663693	rs_1877701802	2 SubmittersRCV001375492 RCV002246257
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp)	SNV Unknown	Chr13:110174730	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388664743	rs_1877801384	2 SubmittersRCV002246258
NM_001845.6(COL4A1):c.1180G>C (p.Gly394Arg)	SNV Germline	Chr13:110198572	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388724091	rs_1879015838	1 SubmittersRCV001265690
NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu)	SNV Germline	Chr13:110178099	Likely pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388667785	rs_1877963897	2 SubmittersRCV001268878 RCV004017815
NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg)	SNV Unknown	Chr13:110178082	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388667748	rs_1877962670	1 SubmittersRCV002246270
NM_001845.6(COL4A1):c.3707G>T (p.Gly1236Val)	SNV Germline	Chr13:110170582	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662339	rs_2501761416	1 SubmittersRCV001281596
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe)	SNV Germline	Chr13:110176466	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA388665827	rs_1877889898	1 SubmittersRCV002246276
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu)	SNV Germline	Chr13:110178934	Conflicting classifications of pathogenicity	Condition: not provided COL4A1-related disorder Inborn genetic diseases Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Conflicting Classifications	CA7047597	rs_781249721	7 SubmittersRCV001289267 RCV004531065 RCV004035569 RCV005012720
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)	SNV Germline	Chr13:110181341	Conflicting classifications of pathogenicity	not specified Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Condition: not provided	Criteria Provided Conflicting Classifications	CA7047690	rs_199573161	5 SubmittersRCV001289266 RCV002499510 RCV002538375
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser)	SNV Germline	Chr13:110176463	Conflicting classifications of pathogenicity	Condition: not provided COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7047409	rs_141418421	5 SubmittersRCV001308578 RCV004740662
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys)	SNV Germline	Chr13:110170577	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047170	rs_148801165	4 SubmittersRCV001311350 RCV002545040
NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter)	SNV Unknown	Chr13:110152375	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388654164	rs_542803991	1 SubmittersRCV002246309
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu)	SNV Germline	Chr13:110169735	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388661988	rs_1877518903	3 SubmittersRCV002246308 RCV006605334
NM_001845.6(COL4A1):c.3406G>A (p.Gly1136Ser)	SNV Germline	Chr13:110174446	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA388664316	rs_1877783774	2 SubmittersRCV001328881 RCV005911072
NM_001845.6(COL4A1):c.2458+1G>A	SNV Germline	Chr13:110178922	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388668225	rs_1878012979	2 SubmittersRCV002246306 RCV003558806
NM_001845.6(COL4A1):c.3742+1G>A	SNV Germline	Chr13:110170546	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388662199	rs_2139156007	2 SubmittersRCV002246349
NM_001845.6(COL4A1):c.4755+1G>T	SNV Germline	Chr13:110155282	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388655471	rs_1332002484	1 SubmittersRCV001377159
NM_001845.6(COL4A1):c.2036G>A (p.Gly679Glu)	SNV Germline	Chr13:110183052	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388722212	rs_2139169535	1 SubmittersRCV001376773
NM_001845.6(COL4A1):c.227G>C (p.Gly76Ala)	SNV Germline	Chr13:110213933	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388727026	rs_775754972	1 SubmittersRCV001379660
NM_001845.6(COL4A1):c.388-1G>C	SNV Germline	Chr13:110211923	Pathogenic/Likely pathogenic	Abnormal cerebral cortex morphology Corpus callosum, agenesis of Colpocephaly Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388726273	rs_766209938	4 SubmittersRCV001391264 RCV002250761 RCV001872000
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)	SNV Germline	Chr13:110166256	Conflicting classifications of pathogenicity	Condition: not provided Congenital anomaly of kidney and urinary tract Inborn genetic diseases Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Conflicting Classifications	CA7047072	rs_141395813	8 SubmittersRCV001507832 RCV001849517 RCV002567978 RCV002476808
NM_001845.6(COL4A1):c.3245G>T (p.Gly1082Val)	SNV Germline	Chr13:110174703	Pathogenic	Porencephaly	Criteria Provided Single Submitter	CA388664661	rs_2139160399	1 SubmittersRCV001526631
NM_001845.6(COL4A1):c.4114G>C (p.Gly1372Arg)	SNV Unknown	Chr13:110164898	Pathogenic	Cerebral palsy	Criteria Provided Single Submitter	CA388660049	rs_2139149224	1 SubmittersRCV001796563
NM_001845.6(COL4A1):c.1258G>A (p.Gly420Arg)	SNV Unknown	Chr13:110198494	Likely pathogenic	Cerebral palsy	Criteria Provided Single Submitter	CA388723935	rs_2139187274	1 SubmittersRCV001796560
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr)	SNV Germline	Chr13:110211880	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity	Criteria Provided Conflicting Classifications	CA7048518	rs_778175625	3 SubmittersRCV001532734 RCV002488357
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)	SNV Germline	Chr13:110187164	Conflicting classifications of pathogenicity	Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant COL4A1 or COL4A2-related cerebral small vessel disease Condition: not provided	Criteria Provided Conflicting Classifications	CA256265366	rs_375477517	4 SubmittersRCV002246414 RCV003225188 RCV003718414
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)	SNV Germline	Chr13:110186528	Conflicting classifications of pathogenicity	Condition: not provided Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies COL4A1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047833	rs_754034347	8 SubmittersRCV001573118 RCV002495913 RCV004536208 RCV004611850
NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter)	SNV Germline	Chr13:110186412	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA388722565	rs_1188823925	2 SubmittersRCV001580110
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg)	SNV Germline	Chr13:110192875	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047941	rs_752346924	7 SubmittersRCV001579960 RCV003365437
NM_001845.6(COL4A1):c.2861G>C (p.Gly954Ala)	SNV Germline	Chr13:110176893	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388666710	rs_2139162968	1 SubmittersRCV001598483
NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu)	SNV Unknown	Chr13:110176724	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388666509	rs_2139162781	1 SubmittersRCV001663424
NM_001845.6(COL4A1):c.144+1G>A	SNV Unknown	Chr13:110242674	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388731341	rs_2139245731	1 SubmittersRCV002246461
NM_001845.6(COL4A1):c.589G>T (p.Gly197Trp)	SNV Germline	Chr13:110210006	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388725479	rs_2139202259	1 SubmittersRCV001726902
NM_001845.6(COL4A1):c.3761G>A (p.Gly1254Glu)	SNV Germline	Chr13:110169744	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388662028	rs_2139154554	1 SubmittersRCV002246467
NM_001845.6(COL4A1):c.4250-1G>A	SNV Germline	Chr13:110162443	Pathogenic/Likely pathogenic	Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388658724	rs_2139146298	3 SubmittersRCV002246469 RCV002283557 RCV003574883
NM_001845.6(COL4A1):c.43G>A (p.Ala15Thr)	SNV Germline	Chr13:110306985	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA256274317	rs_991189007	4 SubmittersRCV001757797 RCV005006035 RCV005540493
NM_001845.6(COL4A1):c.3584G>C (p.Gly1195Ala)	SNV Germline	Chr13:110170705	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388663394	rs_2139156261	2 SubmittersRCV001758932
NM_001845.6(COL4A1):c.3806G>A (p.Gly1269Glu)	SNV Germline	Chr13:110169699	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388661834	rs_2139154502	1 SubmittersRCV001753224
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg)	SNV Germline	Chr13:110170715	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA388663441	rs_2139156269	2 SubmittersRCV002540715
NM_001845.6(COL4A1):c.3620G>A (p.Gly1207Glu)	SNV Germline	Chr13:110170669	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662690	rs_2139156207	1 SubmittersRCV001776484
NM_001845.6(COL4A1):c.4150+1G>A	SNV Germline	Chr13:110164861	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388659921	rs_2139149159	2 SubmittersRCV001780549
NM_001845.6(COL4A1):c.2636G>A (p.Gly879Glu)	SNV Germline	Chr13:110177922	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388667667	rs_2139164015	2 SubmittersRCV001780817
NM_001845.6(COL4A1):c.2878G>A (p.Gly960Arg)	SNV Germline	Chr13:110176716	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388666473	rs_2139162773	1 SubmittersRCV001780818
NM_001845.6(COL4A1):c.1945G>A (p.Gly649Arg)	SNV Germline	Chr13:110183229	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388722404	rs_2139169795	2 SubmittersRCV001780819
NM_001845.6(COL4A1):c.3850G>A (p.Gly1284Arg)	SNV Germline	Chr13:110169655	Likely pathogenic	Condition: not provided COL4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA388661736	rs_2139154447	2 SubmittersRCV001780820 RCV006270515
NM_001845.6(COL4A1):c.1991-2A>G	SNV Germline	Chr13:110183099	Likely pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388722304	rs_2139169623	2 SubmittersRCV001780821 RCV004564713
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)	SNV Germline	Chr13:110183008	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7047729	rs_760462654	5 SubmittersRCV001786280 RCV002541243 RCV002489831
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg)	SNV Germline	Chr13:110179414	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047666	rs_527530568	8 SubmittersRCV001795740 RCV002489838 RCV005320871
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter)	SNV Germline	Chr13:110161286	Pathogenic/Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies See cases Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA388657357	rs_1594535661	4 SubmittersRCV002246513 RCV002252706 RCV005005287
NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter)	SNV Germline	Chr13:110176692	Pathogenic/Likely pathogenic	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388666370	rs_1877904298	3 SubmittersRCV001808019 RCV003669244
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser)	SNV Germline	Chr13:110176966	Pathogenic/Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided COL4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA388667043	rs_2139163058	5 SubmittersRCV002246527 RCV002542440 RCV006262003
NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser)	SNV Germline	Chr13:110179325	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388668633	rs_2139165584	1 SubmittersRCV002246529
NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser)	SNV Germline	Chr13:110176505	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388665988	rs_2139162416	1 SubmittersRCV002246531
NM_001845.6(COL4A1):c.1502G>A (p.Gly501Asp)	SNV Germline	Chr13:110192248	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388723379	rs_2139179173	2 SubmittersRCV002542745 RCV001823797
NM_001845.6(COL4A1):c.4357C>T (p.Gln1453Ter)	SNV Unknown	Chr13:110162335	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388658155	rs_2139146179	1 SubmittersRCV001837730
NM_001845.6(COL4A1):c.2545G>A (p.Gly849Arg)	SNV Germline	Chr13:110178145	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA388667872	rs_2139164265	1 SubmittersRCV002246544
NM_001845.6(COL4A1):c.2782G>C (p.Asp928His)	SNV Germline	Chr13:110176972	Likely pathogenic	Congenital anomaly of kidney and urinary tract	No Assertion Criteria Provided	CA388667067	rs_2139163073	1 SubmittersRCV001849677
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)	SNV Germline	Chr13:110179030	Conflicting classifications of pathogenicity	HANAC-like syndrome Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to	Criteria Provided Conflicting Classifications	CA7047612	rs_372750171	6 SubmittersRCV001849704 RCV002074421 RCV005006092
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)	SNV Germline	Chr13:110175255	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity Hemorrhage, intracerebral, susceptibility to Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA256254248	rs_758076661	4 SubmittersRCV002034853 RCV002503347 RCV005804283
NM_001845.6(COL4A1):c.2327G>T (p.Gly776Val)	SNV Germline	Chr13:110179288	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388668558	rs_2139165521	1 SubmittersRCV001966385
NM_001845.6(COL4A1):c.1648G>C (p.Gly550Arg)	SNV Germline	Chr13:110187218	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388723009	rs_2139173980	1 SubmittersRCV001991927
NM_001845.6(COL4A1):c.554G>A (p.Gly185Asp)	SNV Germline	Chr13:110210041	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388725548	rs_1566376798	1 SubmittersRCV002050399
NM_001845.6(COL4A1):c.2636G>C (p.Gly879Ala)	SNV Germline	Chr13:110177922	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667665	rs_2139164015	1 SubmittersRCV002032289
NM_001845.6(COL4A1):c.4408G>A (p.Gly1470Arg)	SNV Germline	Chr13:110162284	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388657957	rs_2139146124	1 SubmittersRCV001999873
NM_001845.6(COL4A1):c.452G>A (p.Gly151Asp)	SNV Germline	Chr13:110211663	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388726094	rs_2139204356	1 SubmittersRCV002015246
NM_001845.6(COL4A1):c.1990+4C>T	SNV Germline	Chr13:110183180	Conflicting classifications of pathogenicity	Condition: not provided Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047765	rs_771634502	3 SubmittersRCV001947798 RCV005006226
NM_001845.6(COL4A1):c.2556C>T (p.Gly852=)	SNV Germline	Chr13:110178134	Conflicting classifications of pathogenicity	Condition: not provided Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Conflicting Classifications	CA484980888	rs_1474061940	2 SubmittersRCV001890812 RCV005002636
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)	SNV Germline	Chr13:110175229	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity COL4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA388665438	rs_1877827904	3 SubmittersRCV001938389 RCV002484524 RCV004529048
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)	SNV Germline	Chr13:110164983	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Hemorrhage, intracerebral, susceptibility to Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7047038	rs_540983592	3 SubmittersRCV001938156 RCV002491891
NM_001845.6(COL4A1):c.3235G>A (p.Gly1079Arg)	SNV Germline	Chr13:110174713	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664687	rs_2139160417	1 SubmittersRCV002013155
NM_001845.6(COL4A1):c.1382-2A>G	SNV Germline	Chr13:110192915	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388723649	rs_758420618	1 SubmittersRCV001969572
NM_001845.6(COL4A1):c.4755+3A>G	SNV Germline	Chr13:110155280	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7046831	rs_570472326	3 SubmittersRCV001980027 RCV002563515 RCV005002708
NM_001845.6(COL4A1):c.3461G>A (p.Gly1154Asp)	SNV Germline	Chr13:110173944	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664191	rs_2139159547	1 SubmittersRCV002017423
NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser)	SNV Germline	Chr13:110155300	Pathogenic	Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA388655536	rs_113994114	2 SubmittersRCV002004576 RCV004043913
NM_001845.6(COL4A1):c.904G>A (p.Gly302Ser)	SNV Germline	Chr13:110205406	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA7048221	rs_144795487	1 SubmittersRCV001976701
NM_001845.6(COL4A1):c.2560A>G (p.Thr854Ala)	SNV Germline	Chr13:110178130	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047555	rs_756949024	4 SubmittersRCV001926825 RCV004975902
NM_001845.6(COL4A1):c.1804C>T (p.Pro602Ser)	SNV Germline	Chr13:110186478	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047823	rs_769247289	3 SubmittersRCV002024542 RCV006372579
NM_001845.6(COL4A1):c.3655G>C (p.Gly1219Arg)	SNV Germline	Chr13:110170634	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662538	rs_2139156141	1 SubmittersRCV002024680
NM_001845.6(COL4A1):c.2458+2T>C	SNV Germline	Chr13:110178921	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388668219	rs_1436175370	2 SubmittersRCV001993374 RCV005006307
NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu)	SNV Germline	Chr13:110169762	Likely pathogenic	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA388662101	rs_2139154591	2 SubmittersRCV002012358 RCV003994375
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg)	SNV Germline	Chr13:110170697	Pathogenic/Likely pathogenic	Condition: not provided COL4A1 or COL4A2-related cerebral small vessel disease	Criteria Provided Multiple Submitters No Conflicts	CA388663359	rs_2139156247	3 SubmittersRCV001994867 RCV002471200
NM_001845.6(COL4A1):c.155G>T (p.Gly52Val)	SNV Germline	Chr13:110214005	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388727179	rs_2139207389	1 SubmittersRCV002033280
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)	SNV Germline	Chr13:110152406	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7046783	rs_747250117	3 SubmittersRCV002015304 RCV002492296
NM_001845.6(COL4A1):c.1889G>A (p.Gly630Asp)	SNV Germline	Chr13:110186393	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388722529	rs_2139173182	1 SubmittersRCV001995020
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu)	SNV Germline	Chr13:110179399	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Hemorrhage, intracerebral, susceptibility to Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7047663	rs_778390847	4 SubmittersRCV001885941 RCV002482605
NM_001845.6(COL4A1):c.441C>T (p.Pro147=)	SNV Germline	Chr13:110211869	Conflicting classifications of pathogenicity	Condition: not provided Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Conflicting Classifications	CA7048515	rs_201812821	3 SubmittersRCV001903521 RCV002503554
NM_001845.6(COL4A1):c.2414G>A (p.Gly805Glu)	SNV Germline	Chr13:110178967	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA256259304	rs_868858094	1 SubmittersRCV002048359
NM_001845.6(COL4A1):c.3655G>T (p.Gly1219Ter)	SNV Germline	Chr13:110170634	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662537	rs_2139156141	1 SubmittersRCV001955785
NM_001845.6(COL4A1):c.2264G>A (p.Gly755Glu)	SNV Germline	Chr13:110179351	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388668684	rs_1878041974	1 SubmittersRCV001980484
NM_001845.6(COL4A1):c.1145G>A (p.Gly382Asp)	SNV Germline	Chr13:110198607	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388724167	rs_2139187455	2 SubmittersRCV005622158 RCV002026669
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)	SNV Germline	Chr13:110195039	Conflicting classifications of pathogenicity	Condition: not provided Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity	Criteria Provided Conflicting Classifications	CA7047981	rs_576636085	3 SubmittersRCV002005187 RCV002507731
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)	SNV Germline	Chr13:110170591	Conflicting classifications of pathogenicity	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA388662370	rs_1348341976	3 SubmittersRCV002007761 RCV003493901
NM_001845.6(COL4A1):c.4462+3A>G	SNV Germline	Chr13:110162227	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to not specified Primary membranoproliferative glomerulonephritis	Criteria Provided Conflicting Classifications	CA7046936	rs_201116557	5 SubmittersRCV001867089 RCV002503388 RCV005438103 RCV005626511
NM_001845.6(COL4A1):c.3638G>A (p.Gly1213Asp)	SNV Germline	Chr13:110170651	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662607	rs_2139156180	1 SubmittersRCV002043747
NM_001845.6(COL4A1):c.4022-1G>A	SNV Germline	Chr13:110164991	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388660367	rs_2139149392	1 SubmittersRCV002246663
NM_001845.6(COL4A1):c.2458+1G>C	SNV Germline	Chr13:110178922	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388668223	rs_1878012979	1 SubmittersRCV002246664
NM_001845.6(COL4A1):c.2869G>A (p.Gly957Arg)	SNV Germline	Chr13:110176885	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388666674	rs_2139162955	1 SubmittersRCV002246665
NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu)	SNV Germline	Chr13:110155332	Conflicting classifications of pathogenicity	Condition: not provided not specified COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7046843	rs_75885959	3 SubmittersRCV002174881 RCV004782871 RCV004538790
NM_001845.6(COL4A1):c.1545A>T (p.Gln515His)	SNV Germline	Chr13:110187321	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7047881	rs_144950610	2 SubmittersRCV002144630
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)	SNV Germline	Chr13:110186529	Conflicting classifications of pathogenicity	Condition: not provided COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA7047834	rs_374223828	3 SubmittersRCV002125229 RCV004531462
NM_001845.6(COL4A1):c.4839C>T (p.Phe1613=)	SNV Germline	Chr13:110152423	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to	Criteria Provided Conflicting Classifications	CA256239256	rs_987149771	2 SubmittersRCV002137742 RCV005002798
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu)	SNV Germline	Chr13:110181341	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7047689	rs_199573161	2 SubmittersRCV002165612
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val)	SNV Germline	Chr13:110152466	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7046799	rs_766472965	4 SubmittersRCV002142736 RCV005321125
NM_001845.6(COL4A1):c.1187G>A (p.Arg396Gln)	SNV Germline	Chr13:110198565	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA7048026	rs_138266832	4 SubmittersRCV002119894 RCV005542712 RCV005626603
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser)	SNV Germline	Chr13:110163508	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity Hemorrhage, intracerebral, susceptibility to	Criteria Provided Conflicting Classifications	CA388659319	rs_1179536054	3 SubmittersRCV002210986 RCV005002803
NM_001845.6(COL4A1):c.2978G>C (p.Gly993Ala)	SNV Germline	Chr13:110176504	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388665984	rs_2139162409	1 SubmittersRCV002211259
NM_001845.6(COL4A1):c.2281G>A (p.Gly761Arg)	SNV Germline	Chr13:110179334	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	No Assertion Criteria Provided	CA388668647	rs_2139165606	1 SubmittersRCV002246695
NM_001845.6(COL4A1):c.3298G>T (p.Gly1100Trp)	SNV Germline	Chr13:110174650	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388664549	rs_2139160332	1 SubmittersRCV002247702
NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp)	SNV Germline	Chr13:110176706	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388666431	rs_2139162750	1 SubmittersRCV002247704
NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg)	SNV Germline	Chr13:110178163	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388667911	rs_2139164302	1 SubmittersRCV002247705
NM_001845.6(COL4A1):c.4250-2A>C	SNV Germline	Chr13:110162444	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388658730	rs_2139146303	1 SubmittersRCV002249004
NM_001845.6(COL4A1):c.2771G>A (p.Gly924Asp)	SNV Germline	Chr13:110176983	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667118	rs_2139163087	1 SubmittersRCV002269432
NM_001845.6(COL4A1):c.2717G>C (p.Gly906Ala)	SNV Germline	Chr13:110177037	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388667296	rs_2139163150	1 SubmittersRCV002273284
NM_001845.6(COL4A1):c.1190G>A (p.Gly397Glu)	SNV Germline	Chr13:110198562	Likely pathogenic	Seizure	No Assertion Criteria Provided	CA388724068	rs_2139187383	1 SubmittersRCV002275898
NM_001845.6(COL4A1):c.2345-2A>G	SNV Germline	Chr13:110179038	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388668514	rs_2501782514	1 SubmittersRCV002280510
NM_001845.6(COL4A1):c.2413G>A (p.Gly805Arg)	SNV Germline	Chr13:110178968	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA256259306	rs_113994110	1 SubmittersRCV002285792
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)	SNV Germline	Chr13:110208877	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388725303	rs_2501590784	2 SubmittersRCV002287285 RCV003101646
NM_001845.6(COL4A1):c.2708G>A (p.Gly903Asp)	SNV Germline	Chr13:110177850	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388667387	rs_2501779394	1 SubmittersRCV002287871
NM_001845.6(COL4A1):c.3515G>C (p.Gly1172Ala)	SNV Germline	Chr13:110172761	Conflicting classifications of pathogenicity	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7047226	rs_761190838	2 SubmittersRCV002289187 RCV003994422
NM_001845.6(COL4A1):c.2690G>T (p.Gly897Val)	SNV Germline	Chr13:110177868	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667447	rs_2501779464	1 SubmittersRCV002292883
NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)	SNV Germline	Chr13:110167185	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388661248	rs_2501752012	1 SubmittersRCV002466316
NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)	SNV Germline	Chr13:110214014	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388727201	rs_2501608143	1 SubmittersRCV002466810
NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)	SNV Germline	Chr13:110166303	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388660740	rs_2501749906	1 SubmittersRCV002468827
NM_001845.6(COL4A1):c.625G>A (p.Gly209Ser)	SNV Germline	Chr13:110209418	Pathogenic	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Single Submitter	CA388725400	rs_2501592907	1 SubmittersRCV002468829
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)	SNV Germline	Chr13:110187261	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047872	rs_139448202	4 SubmittersRCV002470031 RCV002571444 RCV005002843 RCV005804536
NM_001845.6(COL4A1):c.2626G>C (p.Gly876Arg)	SNV Germline	Chr13:110178064	Pathogenic	COL4A1 or COL4A2-related cerebral small vessel disease	Criteria Provided Single Submitter	CA388667710	rs_2501780064	1 SubmittersRCV002471731
NM_001845.6(COL4A1):c.1591G>C (p.Gly531Arg)	SNV Germline	Chr13:110187275	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388723132	rs_2501800825	1 SubmittersRCV002470464
NM_001845.6(COL4A1):c.4151-10T>C	SNV Germline	Chr13:110163571	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7046999	rs_756588136	2 SubmittersRCV002475496
NM_001845.6(COL4A1):c.3497G>A (p.Gly1166Asp)	SNV Germline	Chr13:110173908	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664116	rs_1085307982	1 SubmittersRCV003062607
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)	SNV Germline	Chr13:110212461	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7048553	rs_753989899	6 SubmittersRCV003093587 RCV005002947 RCV005250274 RCV006254347
NM_001845.6(COL4A1):c.1730G>T (p.Gly577Val)	SNV Germline	Chr13:110186552	Likely pathogenic	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Multiple Submitters No Conflicts	CA7047838	rs_780492563	2 SubmittersRCV003083545 RCV005010958
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)	SNV Germline	Chr13:110206700	Conflicting classifications of pathogenicity	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7048295	rs_368900861	3 SubmittersRCV003087922 RCV005363013
NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly)	SNV Germline	Chr13:110164954	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7047030	rs_138553193	4 SubmittersRCV003367995 RCV003099069
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)	SNV Germline	Chr13:110169680	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA484788732	rs_1474341500	2 SubmittersRCV003093177
NM_001845.6(COL4A1):c.1022G>C (p.Gly341Ala)	SNV Germline	Chr13:110201500	Likely pathogenic	Condition: not provided COL4A1-related disorder Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity	Criteria Provided Multiple Submitters No Conflicts	CA388724444	rs_1879237220	3 SubmittersRCV002617695 RCV004725327 RCV005002854
NM_001845.6(COL4A1):c.1021G>C (p.Gly341Arg)	SNV Germline	Chr13:110201501	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA388724447	rs_1404271039	3 SubmittersRCV002670925 RCV005804578 RCV006460227
NM_001845.6(COL4A1):c.3262G>A (p.Gly1088Arg)	SNV Germline	Chr13:110174686	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664626	rs_2501771081	1 SubmittersRCV002810858
NM_001845.6(COL4A1):c.2923G>C (p.Gly975Arg)	SNV Germline	Chr13:110176671	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388666285	rs_2501776344	1 SubmittersRCV002810822
NM_001845.6(COL4A1):c.3574G>A (p.Gly1192Ser)	SNV Germline	Chr13:110170715	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388663443	rs_2139156269	1 SubmittersRCV002837760
NM_001845.6(COL4A1):c.2113G>A (p.Gly705Arg)	SNV Germline	Chr13:110181372	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388668995	rs_2501788055	1 SubmittersRCV002850853
NM_001845.6(COL4A1):c.2690G>A (p.Gly897Asp)	SNV Germline	Chr13:110177868	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667450	rs_2501779464	1 SubmittersRCV002856298
NM_001845.6(COL4A1):c.85-2A>T	SNV Germline	Chr13:110242736	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388731606	rs_2501683128	1 SubmittersRCV002861863
NM_001845.6(COL4A1):c.3406G>T (p.Gly1136Cys)	SNV Germline	Chr13:110174446	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664318	rs_1877783774	1 SubmittersRCV002871201
NM_001845.6(COL4A1):c.2681G>A (p.Gly894Glu)	SNV Germline	Chr13:110177877	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667480	rs_2501779504	1 SubmittersRCV002857982
NM_001845.6(COL4A1):c.2449G>A (p.Gly817Arg)	SNV Germline	Chr13:110178932	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388668260	rs_2501782158	1 SubmittersRCV002857811
NM_001845.6(COL4A1):c.2717-1G>A	SNV Germline	Chr13:110177038	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667303	rs_2501777565	1 SubmittersRCV002900251
NM_001845.6(COL4A1):c.2022G>C (p.Arg674Ser)	SNV Germline	Chr13:110183066	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7047739	rs_755517991	3 SubmittersRCV002907686
NM_001845.6(COL4A1):c.3641C>T (p.Pro1214Leu)	SNV Germline	Chr13:110170648	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7047188	rs_751951004	3 SubmittersRCV002937510 RCV005542855
NM_001845.6(COL4A1):c.1261C>T (p.Pro421Ser)	SNV Germline	Chr13:110198491	Conflicting classifications of pathogenicity	Condition: not provided Brain small vessel disease 1 with or without ocular anomalies Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7048013	rs_570009776	3 SubmittersRCV002904313 RCV005002900 RCV005356216
NM_001845.6(COL4A1):c.1962G>C (p.Pro654=)	SNV Germline	Chr13:110183212	Conflicting classifications of pathogenicity	Condition: not provided Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047772	rs_375980154	2 SubmittersRCV002967196 RCV005002916
NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)	SNV Germline	Chr13:110203591	Conflicting classifications of pathogenicity	Condition: not provided COL4A1-related disorder Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7048177	rs_765125915	4 SubmittersRCV002967872 RCV004536504 RCV005002918
NM_001845.6(COL4A1):c.3877-8G>T	SNV Germline	Chr13:110167238	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA612622119	rs_370539477	2 SubmittersRCV003002536 RCV005239591
NM_001845.6(COL4A1):c.1103G>A (p.Gly368Asp)	SNV Germline	Chr13:110200871	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388724264	rs_2501565019	1 SubmittersRCV002976112
NM_001845.6(COL4A1):c.903+1G>A	SNV Germline	Chr13:110205493	Likely pathogenic	Condition: not provided Sarcoma	Criteria Provided Single Submitter	CA388724721	rs_1363290269	2 SubmittersRCV002996676 RCV005926768
NM_001845.6(COL4A1):c.3742+1G>T	SNV Germline	Chr13:110170546	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662195	rs_2139156007	1 SubmittersRCV003010246
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)	SNV Germline	Chr13:110166247	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047068	rs_202209298	5 SubmittersRCV003006425 RCV003006426 RCV005002925
NM_001845.6(COL4A1):c.3443G>T (p.Gly1148Val)	SNV Germline	Chr13:110173962	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388664231	rs_1216419547	2 SubmittersRCV003046448
NM_001845.6(COL4A1):c.1627A>T (p.Lys543Ter)	SNV Germline	Chr13:110187239	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388723055	rs_2501800690	1 SubmittersRCV003025265
NM_001845.6(COL4A1):c.3886G>A (p.Gly1296Ser)	SNV Germline	Chr13:110167221	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388661393	rs_2501752117	1 SubmittersRCV003053914
NM_001845.6(COL4A1):c.4069G>T (p.Gly1357Trp)	SNV Germline	Chr13:110164943	Conflicting classifications of pathogenicity	Inborn genetic diseases Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA388660198	rs_1877266440	3 SubmittersRCV002853713 RCV005002991 RCV005636793
NM_001845.6(COL4A1):c.1728+2T>C	SNV Germline	Chr13:110187136	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome EBV-positive nodal T- and NK-cell lymphoma	Criteria Provided Single Submitter	CA388722843	rs_112314120	2 SubmittersRCV003142254 RCV004560094
NM_001845.6(COL4A1):c.1862G>A (p.Gly621Asp)	SNV Germline	Chr13:110186420	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388722583	rs_2501798264	1 SubmittersRCV003143290
NM_001845.6(COL4A1):c.3083C>T (p.Pro1028Leu)	SNV Germline	Chr13:110175333	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Conflicting Classifications	CA7047384	rs_756879840	4 SubmittersRCV003143291 RCV004978782 RCV005003024
NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)	SNV Unknown	Chr13:110213991	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388727152	rs_2501608003	1 SubmittersRCV003148416
NM_001845.6(COL4A1):c.1465G>A (p.Gly489Ser)	SNV Unknown	Chr13:110192830	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388723470	rs_2501540839	1 SubmittersRCV003153199
NM_001845.6(COL4A1):c.4454A>G (p.Gln1485Arg)	SNV Germline	Chr13:110162238	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388657786	rs_2501738034	1 SubmittersRCV003156533
NM_001845.6(COL4A1):c.3742G>A (p.Gly1248Arg)	SNV Germline	Chr13:110170547	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662204	rs_2501761275	1 SubmittersRCV003159438
NM_001845.6(COL4A1):c.868G>A (p.Gly290Arg)	SNV Germline	Chr13:110205529	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7048270	rs_757065258	2 SubmittersRCV003179605 RCV003779620
NM_001845.6(COL4A1):c.2485G>T (p.Gly829Cys)	SNV Germline	Chr13:110178205	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388667995	rs_2501780568	1 SubmittersRCV003223539
NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)	SNV Germline	Chr13:110183097	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388722298	rs_2501791898	1 SubmittersRCV003232909
NM_001845.6(COL4A1):c.3041G>A (p.Gly1014Asp)	SNV Germline	Chr13:110176441	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388665744	rs_2501775550	1 SubmittersRCV003312273
NM_001845.6(COL4A1):c.2644G>T (p.Gly882Cys)	SNV Germline	Chr13:110177914	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388667628	rs_2501779644	1 SubmittersRCV003319597
NM_001845.6(COL4A1):c.1573G>A (p.Gly525Arg)	SNV Unknown	Chr13:110187293	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388723171	rs_2501800882	1 SubmittersRCV003322721
NM_001845.6(COL4A1):c.976G>A (p.Gly326Ser)	SNV Germline	Chr13:110203589	Likely pathogenic	Keratoconus	No Assertion Criteria Provided	CA388724548	rs_761712661	1 SubmittersRCV003324670
NM_001845.6(COL4A1):c.4652G>A (p.Cys1551Tyr)	SNV Germline	Chr13:110155386	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388655839	rs_1594530228	1 SubmittersRCV003332460
NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)	SNV Unknown	Chr13:110175277	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388665527	rs_2501773131	1 SubmittersRCV003333547
NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)	SNV Germline	Chr13:110214005	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388727181	rs_2139207389	1 SubmittersRCV003335817
NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)	SNV Germline	Chr13:110211922	Pathogenic/Likely pathogenic	Irido-corneo-trabecular dysgenesis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388726271	rs_766346293	2 SubmittersRCV003389588 RCV003778172
NM_001845.6(COL4A1):c.3851G>A (p.Gly1284Glu)	SNV Germline	Chr13:110169654	Likely pathogenic	COL4A1-related disorder	Criteria Provided Single Submitter	CA388661733	rs_2501757578	1 SubmittersRCV004531559
NM_001845.6(COL4A1):c.2486G>T (p.Gly829Val)	SNV Germline	Chr13:110178204	Likely pathogenic	COL4A1-related disorder	Criteria Provided Single Submitter	CA388667992	rs_2501780562	1 SubmittersRCV004529255
NM_001845.6(COL4A1):c.469-7C>A	SNV Germline	Chr13:110210219	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2623676242	rs_1409868711	2 SubmittersRCV003400497
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)	SNV Germline	Chr13:110213987	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388727142	rs_2501607993	2 SubmittersRCV003479586 RCV005100281
NM_001845.6(COL4A1):c.536G>C (p.Gly179Ala)	SNV Germline	Chr13:110210145	Likely pathogenic	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA388725593	rs_1879717674	3 SubmittersRCV003489342 RCV005003655
NM_001845.6(COL4A1):c.634G>C (p.Gly212Arg)	SNV Germline	Chr13:110209409	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388725385	rs_878853070	1 SubmittersRCV003489343
NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)	SNV Germline	Chr13:110201446	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388724330	rs_2501568764	2 SubmittersRCV003493321 RCV003779274
NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)	SNV Germline	Chr13:110176724	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388666507	rs_2139162781	1 SubmittersRCV003493328
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)	SNV Germline	Chr13:110206891	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388725014	rs_2501584950	2 SubmittersRCV003493352 RCV006478710
NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)	SNV Germline	Chr13:110174455	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388664337	rs_2501770185	1 SubmittersRCV003494092
NM_001845.6(COL4A1):c.2069G>A (p.Gly690Glu)	SNV Germline	Chr13:110183019	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA256262252	rs_1013805396	2 SubmittersRCV003543130
NM_001845.6(COL4A1):c.2968+1G>A	SNV Germline	Chr13:110176625	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388666080	rs_2501776220	1 SubmittersRCV003547132
NM_001845.6(COL4A1):c.2077G>C (p.Gly693Arg)	SNV Germline	Chr13:110183011	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388669077	rs_2501791541	1 SubmittersRCV003544209
NM_001845.6(COL4A1):c.1000-2A>G	SNV Germline	Chr13:110201524	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388724495	rs_2501569133	1 SubmittersRCV003544592
NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser)	SNV Germline	Chr13:110187209	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7047864	rs_370670458	2 SubmittersRCV003548390
NM_001845.6(COL4A1):c.1466-1G>C	SNV Germline	Chr13:110192285	Likely pathogenic	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity	Criteria Provided Multiple Submitters No Conflicts	CA256269199	rs_201606177	5 SubmittersRCV003561755 RCV005013014
NM_001845.6(COL4A1):c.3796G>C (p.Gly1266Arg)	SNV Germline	Chr13:110169709	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388661875	rs_2501757760	1 SubmittersRCV003557808
NM_001845.6(COL4A1):c.4640+10G>C	SNV Germline	Chr13:110161182	Conflicting classifications of pathogenicity	Condition: not provided Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA2118728235	rs_1877067186	2 SubmittersRCV003563906 RCV005013051
NM_001845.6(COL4A1):c.791G>A (p.Gly264Asp)	SNV Germline	Chr13:110206881	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388724988	rs_2501584917	1 SubmittersRCV003571008
NM_001845.6(COL4A1):c.3095G>A (p.Gly1032Asp)	SNV Germline	Chr13:110175321	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388665621	rs_2139161185	1 SubmittersRCV003578136
NM_001845.6(COL4A1):c.3379G>A (p.Gly1127Ser)	SNV Germline	Chr13:110174473	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664372	rs_2501770318	1 SubmittersRCV003671106
NM_001845.6(COL4A1):c.1547G>A (p.Gly516Asp)	SNV Germline	Chr13:110187319	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388723220	rs_2501800972	1 SubmittersRCV003679841
NM_001845.6(COL4A1):c.442-1G>C	SNV Germline	Chr13:110211674	Likely pathogenic	Condition: not provided Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA388726123	rs_2501600650	2 SubmittersRCV003711174 RCV005931652
NM_001845.6(COL4A1):c.3199G>A (p.Gly1067Arg)	SNV Germline	Chr13:110174749	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388664831	rs_2501771259	1 SubmittersRCV003691418
NM_001845.6(COL4A1):c.4021+2T>C	SNV Germline	Chr13:110166230	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388660450	rs_2501749644	1 SubmittersRCV003693946
NM_001845.6(COL4A1):c.896G>T (p.Gly299Val)	SNV Germline	Chr13:110205501	Likely pathogenic	Condition: not provided Melanoma	Criteria Provided Single Submitter	CA388724737	rs_2501580028	2 SubmittersRCV003683523 RCV005934625
NM_001845.6(COL4A1):c.4408G>C (p.Gly1470Arg)	SNV Germline	Chr13:110162284	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388657955	rs_2139146124	1 SubmittersRCV003721201
NM_001845.6(COL4A1):c.2689G>C (p.Gly897Arg)	SNV Germline	Chr13:110177869	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667453	rs_2501779475	1 SubmittersRCV003688046
NM_001845.6(COL4A1):c.4249+10G>A	SNV Germline	Chr13:110163453	Conflicting classifications of pathogenicity	Condition: not provided COL4A1-related disorder	Criteria Provided Conflicting Classifications	CA645573506	rs_1004640402	3 SubmittersRCV003704129 RCV004738832
NM_001845.6(COL4A1):c.1721G>T (p.Gly574Val)	SNV Germline	Chr13:110187145	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388722859	rs_2501800324	1 SubmittersRCV003699550
NM_001845.6(COL4A1):c.2581G>C (p.Gly861Arg)	SNV Germline	Chr13:110178109	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667803	rs_2501780225	1 SubmittersRCV003699551
NM_001845.6(COL4A1):c.3734G>A (p.Gly1245Asp)	SNV Germline	Chr13:110170555	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388662232	rs_2501761313	1 SubmittersRCV003704472
NM_001845.6(COL4A1):c.1938C>T (p.Gly646=)	SNV Germline	Chr13:110183236	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to	Criteria Provided Conflicting Classifications	CA484790182	rs_2085999500	2 SubmittersRCV003715086 RCV005003695
NM_001845.6(COL4A1):c.343G>C (p.Gly115Arg)	SNV Germline	Chr13:110212461	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388726411	rs_753989899	1 SubmittersRCV003727377
NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)	SNV Germline	Chr13:110242683	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Criteria Provided Conflicting Classifications	CA7048665	rs_753818473	2 SubmittersRCV003737297 RCV005013151
NM_001845.6(COL4A1):c.1720G>A (p.Gly574Ser)	SNV Germline	Chr13:110187146	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388722863	rs_1443471859	1 SubmittersRCV003733672
NM_001845.6(COL4A1):c.2344+18A>G	SNV Germline	Chr13:110179253	Conflicting classifications of pathogenicity	Condition: not provided Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Retinal arterial tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7047634	rs_370939644	2 SubmittersRCV003736195 RCV005013176
NM_001845.6(COL4A1):c.4249+9C>G	SNV Germline	Chr13:110163454	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications	CA7046985	rs_186028417	2 SubmittersRCV003815859 RCV005003722
NM_001845.6(COL4A1):c.2618G>A (p.Gly873Glu)	SNV Germline	Chr13:110178072	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388667727	rs_2501780114	1 SubmittersRCV003831233
NM_001845.6(COL4A1):c.2584C>G (p.Leu862Val)	SNV Germline	Chr13:110178106	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA256255495	rs_975712950	2 SubmittersRCV003847711 RCV005545129
NM_001845.6(COL4A1):c.1466-7A>C	SNV Germline	Chr13:110192291	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7047914	rs_772338095	2 SubmittersRCV003855546 RCV005240967
NM_001845.6(COL4A1):c.1346G>C (p.Gly449Ala)	SNV Germline	Chr13:110195058	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA7047984	rs_776216712	1 SubmittersRCV003879511
NM_001845.6(COL4A1):c.3158G>T (p.Gly1053Val)	SNV Germline	Chr13:110175258	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388665488	rs_768591241	1 SubmittersRCV003887804
NM_001845.6(COL4A1):c.1536+1G>A	SNV Germline	Chr13:110192213	Likely pathogenic	COL4A1-related disorder	No Assertion Criteria Provided	CA388723312	rs_2501538404	1 SubmittersRCV004542630
NM_001845.6(COL4A1):c.2869G>T (p.Gly957Ter)	SNV Germline	Chr13:110176885	Likely pathogenic	COL4A1-related disorder	No Assertion Criteria Provided	CA388666670	rs_2139162955	1 SubmittersRCV004542652
NM_001845.6(COL4A1):c.1996C>T (p.Arg666Ter)	SNV Germline	Chr13:110183092	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity	Criteria Provided Multiple Submitters No Conflicts	CA388722288	rs_2501791888	2 SubmittersRCV003984909 RCV005003746
NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)	SNV Germline	Chr13:110163480	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter	CA388659214	rs_2501741449	1 SubmittersRCV003988706
NM_001845.6(COL4A1):c.2218G>A (p.Gly740Arg)	SNV Germline	Chr13:110179397	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Brain small vessel disease 1 with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388668775	rs_2501783763	2 SubmittersRCV003991094 RCV005937390
NM_001845.6(COL4A1):c.3325+1G>A	SNV Germline	Chr13:110174622	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388664496	rs_2501770861	1 SubmittersRCV003991357
NM_001845.6(COL4A1):c.2546G>A (p.Gly849Glu)	SNV Germline	Chr13:110178144	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388667869	rs_2501780336	1 SubmittersRCV004437399
NM_001845.6(COL4A1):c.3743-1G>A	SNV Germline	Chr13:110169763	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388662109	rs_2501757966	1 SubmittersRCV004437401
NM_001845.6(COL4A1):c.3674G>T (p.Gly1225Val)	SNV Germline	Chr13:110170615	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388662452	rs_1555302454	1 SubmittersRCV004545953
NM_001845.6(COL4A1):c.2167G>A (p.Gly723Arg)	SNV Germline	Chr13:110181318	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter	CA388668890	rs_2501787905	1 SubmittersRCV004555327
NM_001845.6(COL4A1):c.1111G>A (p.Gly371Arg)	SNV Germline	Chr13:110200863	Conflicting classifications of pathogenicity	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1386813633	2 SubmittersRCV004556960 RCV005100832
NM_001845.6(COL4A1):c.4178G>A (p.Gly1393Glu)	SNV Germline	Chr13:110163534	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter		rs_2501741661	1 SubmittersRCV004577206
NM_001845.6(COL4A1):c.2185G>A (p.Gly729Ser)	SNV Germline	Chr13:110181300	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1594555106	1 SubmittersRCV004590609
NM_001845.6(COL4A1):c.280-2A>G	SNV Germline	Chr13:110212620	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004599047
NM_001845.6(COL4A1):c.3601G>C (p.Gly1201Arg)	SNV Germline	Chr13:110170688	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004696804
NM_001845.6(COL4A1):c.2776A>T (p.Lys926Ter)	SNV Germline	Chr13:110176978	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004696805
NM_001845.6(COL4A1):c.2716+1G>A	SNV Germline	Chr13:110177841	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004696806
NM_001845.6(COL4A1):c.4133G>A (p.Gly1378Asp)	SNV Germline	Chr13:110164879	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004729211
NM_001845.6(COL4A1):c.3298G>A (p.Gly1100Arg)	SNV Germline	Chr13:110174650	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004767994
NM_001845.6(COL4A1):c.2707G>C (p.Gly903Arg)	SNV Germline	Chr13:110177851	Pathogenic	COL4A1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV004789980
NM_001845.6(COL4A1):c.3103G>A (p.Gly1035Ser)	SNV Germline	Chr13:110175313	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004792259
NM_001845.6(COL4A1):c.3665G>A (p.Gly1222Glu)	SNV Germline	Chr13:110170624	Conflicting classifications of pathogenicity	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hemorrhage, intracerebral, susceptibility to Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Conflicting Classifications			2 SubmittersRCV004795691 RCV005603880
NM_001845.6(COL4A1):c.2027G>A (p.Gly676Asp)	SNV Germline	Chr13:110183061	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004811386
NM_001845.6(COL4A1):c.4286G>T (p.Gly1429Val)	SNV Germline	Chr13:110162406	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013339
NM_001845.6(COL4A1):c.4187G>A (p.Gly1396Asp)	SNV Germline	Chr13:110163525	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013340
NM_001845.6(COL4A1):c.4163T>A (p.Leu1388Ter)	SNV Germline	Chr13:110163549	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005005539
NM_001845.6(COL4A1):c.3991C>T (p.Gln1331Ter)	SNV Germline	Chr13:110166262	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013343
NM_001845.6(COL4A1):c.3778G>A (p.Gly1260Arg)	SNV Germline	Chr13:110169727	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005005544
NM_001845.6(COL4A1):c.2987G>A (p.Gly996Asp)	SNV Germline	Chr13:110176495	Pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013350
NM_001845.6(COL4A1):c.2593C>T (p.Gln865Ter)	SNV Germline	Chr13:110178097	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005005555
NM_001845.6(COL4A1):c.2182C>T (p.Gln728Ter)	SNV Germline	Chr13:110181303	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013352
NM_001845.6(COL4A1):c.2132G>C (p.Gly711Ala)	SNV Germline	Chr13:110181353	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005005562
NM_001845.6(COL4A1):c.1720G>C (p.Gly574Arg)	SNV Germline	Chr13:110187146	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005005567
NM_001845.6(COL4A1):c.1484G>A (p.Gly495Glu)	SNV Germline	Chr13:110192266	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013360
NM_001845.6(COL4A1):c.1456G>A (p.Gly486Arg)	SNV Germline	Chr13:110192839	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013361
NM_001845.6(COL4A1):c.1373G>T (p.Gly458Val)	SNV Germline	Chr13:110195031	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005005569
NM_001845.6(COL4A1):c.1067G>C (p.Gly356Ala)	SNV Germline	Chr13:110201455	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005005573
NM_001845.6(COL4A1):c.958-1G>C	SNV Germline	Chr13:110203608	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013365
NM_001845.6(COL4A1):c.868G>T (p.Gly290Ter)	SNV Germline	Chr13:110205529	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005013367
NM_001845.6(COL4A1):c.807+1G>A	SNV Germline	Chr13:110206864	Likely pathogenic	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Hemorrhage, intracerebral, susceptibility to	Criteria Provided Single Submitter			1 SubmittersRCV005005575
NM_001845.6(COL4A1):c.84+13C>T	SNV Germline	Chr13:110306931	Conflicting classifications of pathogenicity	Retinal arterial tortuosity Brain small vessel disease 1 with or without ocular anomalies Hemorrhage, intracerebral, susceptibility to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005005583 RCV005112571
NM_001845.6(COL4A1):c.3869G>A (p.Gly1290Asp)	SNV Germline	Chr13:110169636	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005073519
NM_001845.6(COL4A1):c.1144G>A (p.Gly382Ser)	SNV Germline	Chr13:110198608	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005071166
NM_001845.6(COL4A1):c.3742+1G>C	SNV Germline	Chr13:110170546	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005121223
NM_001845.6(COL4A1):c.2797G>C (p.Gly933Arg)	SNV Germline	Chr13:110176957	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005128991
NM_001845.6(COL4A1):c.3244G>A (p.Gly1082Arg)	SNV Germline	Chr13:110174704	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005116601
NM_001845.6(COL4A1):c.2485G>A (p.Gly829Ser)	SNV Germline	Chr13:110178205	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005130060
NM_001845.6(COL4A1):c.3506-1G>A	SNV Germline	Chr13:110172771	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005128345
NM_001845.6(COL4A1):c.4721G>A (p.Trp1574Ter)	SNV Germline	Chr13:110155317	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005126276
NM_001845.6(COL4A1):c.123C>A (p.Cys41Ter)	SNV Germline	Chr13:110242696	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005126653
NM_001845.6(COL4A1):c.182G>C (p.Gly61Ala)	SNV Germline	Chr13:110213978	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005126689
NM_001845.6(COL4A1):c.3004G>A (p.Gly1002Ser)	SNV Germline	Chr13:110176478	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005137988
NM_001845.6(COL4A1):c.1685G>C (p.Gly562Ala)	SNV Germline	Chr13:110187181	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005144192
NM_001845.6(COL4A1):c.1792G>A (p.Gly598Ser)	SNV Germline	Chr13:110186490	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005135535
NM_001845.6(COL4A1):c.3415G>A (p.Gly1139Arg)	SNV Germline	Chr13:110173990	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005157350
NM_001845.6(COL4A1):c.217G>A (p.Gly73Arg)	SNV Germline	Chr13:110213943	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005173375
NM_001845.6(COL4A1):c.1457G>A (p.Gly486Glu)	SNV Germline	Chr13:110192838	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005164772
NM_001845.6(COL4A1):c.2372G>C (p.Gly791Ala)	SNV Germline	Chr13:110179009	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005168505
NM_001845.6(COL4A1):c.1355G>A (p.Gly452Glu)	SNV Germline	Chr13:110195049	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005187063
NM_001845.6(COL4A1):c.3958G>A (p.Gly1320Ser)	SNV Germline	Chr13:110166295	Likely pathogenic	Condition: not provided COL4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005194888 RCV005862561
NM_001845.6(COL4A1):c.1084+1G>T	SNV Germline	Chr13:110201437	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005197165
NM_001845.6(COL4A1):c.1784G>A (p.Gly595Asp)	SNV Germline	Chr13:110186498	Likely pathogenic	COL4A1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005233359
NM_001845.6(COL4A1):c.772G>T (p.Gly258Ter)	SNV Germline	Chr13:110207411	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter			1 SubmittersRCV005247935
NM_001845.6(COL4A1):c.2698G>A (p.Gly900Arg)	SNV Germline	Chr13:110177860	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter			1 SubmittersRCV005252619
NM_001845.6(COL4A1):c.2596C>T (p.Gln866Ter)	SNV Germline	Chr13:110178094	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV005317220
NM_001845.6(COL4A1):c.3110C>T (p.Pro1037Leu)	SNV Unknown	Chr13:110175306	Likely pathogenic	Hemorrhage, intracerebral, susceptibility to	No Assertion Criteria Provided			1 SubmittersRCV006250125
NM_001845.6(COL4A1):c.1186C>T (p.Arg396Ter)	SNV Germline	Chr13:110198566	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005414218
NM_001845.6(COL4A1):c.226G>A (p.Gly76Arg)	SNV Germline	Chr13:110213934	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter			1 SubmittersRCV005420496
NM_001845.6(COL4A1):c.3556+1G>C	SNV Germline	Chr13:110172719	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005620577
NM_001845.6(COL4A1):c.3253G>A (p.Gly1085Arg)	SNV Germline	Chr13:110174695	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter			1 SubmittersRCV005623257
NM_001845.6(COL4A1):c.1582G>C (p.Gly528Arg)	SNV Germline	Chr13:110187284	Likely pathogenic	Metabolic disease	Criteria Provided Single Submitter			1 SubmittersRCV005625097
NM_001845.6(COL4A1):c.2149G>T (p.Gly717Ter)	SNV Germline	Chr13:110181336	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005629839
NM_001845.6(COL4A1):c.3859G>T (p.Gly1287Ter)	SNV Germline	Chr13:110169646	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005629841
NM_001845.6(COL4A1):c.2440G>C (p.Gly814Arg)	SNV Germline	Chr13:110178941	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV005801306
NM_001845.6(COL4A1):c.1973G>A (p.Gly658Asp)	SNV Germline	Chr13:110183201	Likely pathogenic	COL4A1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005864011
NM_001845.6(COL4A1):c.2923G>A (p.Gly975Arg)	SNV Germline	Chr13:110176671	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter			1 SubmittersRCV005884301
NM_001845.6(COL4A1):c.3505+2T>C	SNV Germline	Chr13:110173898	Likely pathogenic	COL4A1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005880935
NM_001845.6(COL4A1):c.3877G>A (p.Gly1293Ser)	SNV Germline	Chr13:110167230	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter			1 SubmittersRCV005883128
NM_001845.6(COL4A1):c.3307G>T (p.Gly1103Trp)	SNV Germline	Chr13:110174641	Likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter			1 SubmittersRCV005938321
NM_001845.6(COL4A1):c.3707G>A (p.Gly1236Glu)	SNV Germline	Chr13:110170582	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006253087
NM_001845.6(COL4A1):c.2744G>A (p.Gly915Glu)	SNV Germline	Chr13:110177010	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006253088
NM_001845.6(COL4A1):c.3506G>T (p.Gly1169Val)	SNV Germline	Chr13:110172770	Likely pathogenic	COL4A1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006257661
NM_001845.6(COL4A1):c.2609G>A (p.Gly870Glu)	SNV Germline	Chr13:110178081	Pathogenic	Brain small vessel disease 1 with or without ocular anomalies	Criteria Provided Single Submitter			1 SubmittersRCV006257662
NM_001845.6(COL4A1):c.1675G>A (p.Gly559Ser)	SNV Germline	Chr13:110187191	Pathogenic	COL4A1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006257663
NM_001845.6(COL4A1):c.1135G>T (p.Gly379Trp)	SNV Germline	Chr13:110198617	Likely pathogenic	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006457550
NM_001845.6(COL4A1):c.1177A>T (p.Lys393Ter)	SNV Germline	Chr13:110198575	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006483373
NM_001845.6(COL4A1):c.164G>A (p.Gly55Glu)	SNV Germline	Chr13:110213996	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006509841
NM_001845.6(COL4A1):c.1728+1G>T	SNV Germline	Chr13:110187137	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006511299
NM_001845.6(COL4A1):c.2437C>T (p.Gln813Ter)	SNV Germline	Chr13:110178944	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006520822
NM_001845.6(COL4A1):c.1381G>T (p.Gly461Cys)	SNV Germline	Chr13:110195023	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006525101
NM_001845.6(COL4A1):c.3217G>C (p.Gly1073Arg)	SNV Germline	Chr13:110174731	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006540559
NM_001845.6(COL4A1):c.2941G>T (p.Gly981Trp)	SNV Germline	Chr13:110176653	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006543043
NM_001845.6(COL4A1):c.2486G>A (p.Gly829Asp)	SNV Germline	Chr13:110178204	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006543049
NM_001845.6(COL4A1):c.2282G>A (p.Gly761Glu)	SNV Germline	Chr13:110179333	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006543053
NM_001845.6(COL4A1):c.1222G>A (p.Gly408Arg)	SNV Germline	Chr13:110198530	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006543063
NM_001845.6(COL4A1):c.1163G>T (p.Gly388Val)	SNV Germline	Chr13:110198589	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006543064
NM_001845.6(COL4A1):c.922G>T (p.Gly308Trp)	SNV Germline	Chr13:110205388	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006543067
NM_001845.6(COL4A1):c.878G>C (p.Gly293Ala)	SNV Germline	Chr13:110205519	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006543068
NM_001845.6(COL4A1):c.563G>T (p.Gly188Val)	SNV Germline	Chr13:110210032	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006543071
NM_001845.6(COL4A1):c.967G>T (p.Gly323Cys)	SNV Germline	Chr13:110203598	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006620442

NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)

SNV
Germline

Chr13:110170583

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Single Submitter

CA341444

rs_113994112

3 SubmittersRCV002247361 RCV002247360

NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)

SNV
Germline

Chr13:110179370

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Single Submitter

CA341446

rs_113994109

4 SubmittersRCV002247362 RCV003226898

NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu)

SNV
Germline

Chr13:110187181

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA257927

rs_121912857

1 SubmittersRCV002247363

NM_001845.6(COL4A1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr13:110307027

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA341448

rs_113994103

2 SubmittersRCV002247364

NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp)

SNV
Germline

Chr13:110174463

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA341450

rs_113994111

2 SubmittersRCV002247365

NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg)

SNV
Germline

Chr13:110162425

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA341452

rs_113994113

2 SubmittersRCV002247366

NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val)

SNV
Germline

Chr13:110192257

Pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

No Assertion Criteria Provided

CA341454

rs_113994104

2 SubmittersRCV000018961

NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg)

SNV
Germline

Chr13:110187311

Pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

No Assertion Criteria Provided

CA341456

rs_113994105

2 SubmittersRCV000018962

NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu)

SNV
Germline

Chr13:110187283

Pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

No Assertion Criteria Provided

CA341458

rs_113994106

2 SubmittersRCV000018963

NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp)

SNV
Germline

Chr13:110181326

Pathogenic

Developmental cataract
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder

Criteria Provided
Single Submitter

CA343273

rs_113994108

4 SubmittersRCV001775002 RCV002247367 RCV006249561

NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg)

SNV
Germline

Chr13:110155300

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA341460

rs_113994114

2 SubmittersRCV002247368

NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg)

SNV
Germline

Chr13:110192258

Pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

No Assertion Criteria Provided

CA257929

rs_267606744

1 SubmittersRCV000018966

NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg)

SNV
Germline

Chr13:110192222

Pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity

No Assertion Criteria Provided

CA199539

rs_267606743

1 SubmittersRCV000018967 RCV000170340

NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)

SNV
Germline

Chr13:110201467

Conflicting classifications of pathogenicity

Hemorrhage, intracerebral, susceptibility to
Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA130652

rs_200786329

6 SubmittersRCV000033090 RCV000710795 RCV000989165 RCV002247414

NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg)

SNV
Germline

Chr13:110166277

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Single Submitter

CA156200

rs_587777379

2 SubmittersRCV002247500 RCV003556166

NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)

SNV
Germline

Chr13:110183002

Pathogenic

Condition: not provided
Cerebral calcification
Intracranial hemorrhage
Abnormal corpus callosum morphology
Intraventricular hemorrhage
Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity

Criteria Provided
Multiple Submitters
No Conflicts

CA269925

rs_587780588

7 SubmittersRCV000398907 RCV001030993 RCV001391278 RCV002247502 RCV006250119

NM_001845.6(COL4A1):c.2194-1G>A

SNV
Germline

Chr13:110179422

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA272996

rs_606231465

1 SubmittersRCV002247543

NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)

SNV
Germline

Chr13:110179352

Pathogenic

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA273009

rs_672601346

8 SubmittersRCV000710799 RCV000989163 RCV002247544 RCV004019794

NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg)

SNV
Germline

Chr13:110179298

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA273011

rs_672601347

1 SubmittersRCV002247545

NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys)

SNV
Germline

Chr13:110152381

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA273013

rs_672601348

1 SubmittersRCV002247546

NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg)

SNV
Germline

Chr13:110181363

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA273015

rs_672601349

1 SubmittersRCV002247547

NM_001845.6(COL4A1):c.1466-6C>T

SNV
Germline

Chr13:110192290

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder
Inborn genetic diseases
Uterine carcinosarcoma
not specified

Criteria Provided
Conflicting Classifications

CA242433

rs_183563055

10 SubmittersRCV000176471 RCV000383787 RCV002247584 RCV004537400 RCV005801746 RCV005889881 RCV006439703

NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)

SNV
Germline

Chr13:110187278

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Schizencephaly
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to
Brain small vessel disease 1 with or without ocular anomalies
Inborn genetic diseases
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA242533

rs_145172612

9 SubmittersRCV000176542 RCV000323259 RCV000763877 RCV002247585 RCV004020096 RCV004537407

NM_001845.6(COL4A1):c.1897+7C>G

SNV
Germline

Chr13:110186378

Conflicting classifications of pathogenicity

Condition: not provided
Proteinuria

Criteria Provided
Conflicting Classifications

CA242671

rs_773791331

3 SubmittersRCV000176642 RCV005621900

NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)

SNV
Germline

Chr13:110213999

Conflicting classifications of pathogenicity

not specified
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Optic nerve hypoplasia
Condition: not provided
Chronic kidney disease
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA202302

rs_34004222

12 SubmittersRCV000177132 RCV000378889 RCV000677255 RCV000877903 RCV001171323 RCV002247587 RCV004739560

NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)

SNV
Germline

Chr13:110178120

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA244146

rs_145861489

7 SubmittersRCV000177640 RCV005540021 RCV004539653

NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)

SNV
Germline

Chr13:110176691

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA244774

rs_146288748

5 SubmittersRCV000177838 RCV001113526 RCV002247589

NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)

SNV
Germline

Chr13:110178196

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA204636

rs_797044867

8 SubmittersRCV000190674 RCV001532731 RCV002283465 RCV002247615 RCV003335188

NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)

SNV
Germline

Chr13:110177896

Pathogenic/Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided
COL4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA276133

rs_797045034

6 SubmittersRCV000191072 RCV001090428 RCV004739575

NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser)

SNV
Germline

Chr13:110209409

Conflicting classifications of pathogenicity

Condition: not provided
Anterior segment dysgenesis
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA10581361

rs_878853070

7 SubmittersRCV000224555 RCV001200033 RCV003223398 RCV005868139

NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp)

SNV
Germline

Chr13:110177886

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10603181

rs_886041965

1 SubmittersRCV000287557

NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val)

SNV
Germline

Chr13:110166276

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10603335

rs_886041714

1 SubmittersRCV000341462

NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=)

SNV
Germline

Chr13:110164914

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047019

rs_757948524

2 SubmittersRCV000335844

NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=)

SNV
Germline

Chr13:110170698

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047198

rs_768381482

2 SubmittersRCV000387674

NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)

SNV
Germline

Chr13:110307021

Conflicting classifications of pathogenicity

Condition: not provided
Schizencephaly
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Inborn genetic diseases
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7048689

rs_751749989

11 SubmittersRCV000726352 RCV000763878 RCV001731568 RCV002248510 RCV004975403 RCV004739663

NM_001845.6(COL4A1):c.4021+14T>A

SNV
Germline

Chr13:110166218

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA10633828

rs_755709828

2 SubmittersRCV000352904 RCV002056342 RCV002248546

NM_001845.6(COL4A1):c.3742+14G>A

SNV
Germline

Chr13:110170533

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047160

rs_377503687

2 SubmittersRCV000332440 RCV002056344 RCV002248552

NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)

SNV
Germline

Chr13:110162250

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7046939

rs_376607450

4 SubmittersRCV000400783 RCV001531807 RCV002248539

NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)

SNV
Germline

Chr13:110162421

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7046965

rs_760889798

3 SubmittersRCV000273763 RCV002248541 RCV002522263 RCV004975430

NM_001845.6(COL4A1):c.4150+3G>A

SNV
Germline

Chr13:110164859

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047013

rs_545498227

3 SubmittersRCV000291784 RCV002248544 RCV001726106

NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)

SNV
Germline

Chr13:110170655

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
not specified

Criteria Provided
Conflicting Classifications

CA7047189

rs_199557190

6 SubmittersRCV000379128 RCV000991611 RCV002248553 RCV003401312

NM_001845.6(COL4A1):c.3557-14T>C

SNV
Germline

Chr13:110170746

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10638947

rs_886049957

2 SubmittersRCV000339737 RCV002248554 RCV002522264

NM_001845.6(COL4A1):c.2869+6T>C

SNV
Germline

Chr13:110176879

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7047475

rs_557198622

4 SubmittersRCV000349879 RCV001850642 RCV002248565 RCV005008293 RCV004537762

NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)

SNV
Germline

Chr13:110177852

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047511

rs_754208625

2 SubmittersRCV000402079 RCV002248567 RCV002520855

NM_001845.6(COL4A1):c.2095+7C>G

SNV
Germline

Chr13:110182986

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10638957

rs_886049961

2 SubmittersRCV000321051 RCV002248576 RCV003765816

NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)

SNV
Germline

Chr13:110162251

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity

Criteria Provided
Conflicting Classifications

CA7046940

rs_199586038

5 SubmittersRCV000485934 RCV000391017 RCV002248540 RCV004529552 RCV005008292

NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=)

SNV
Germline

Chr13:110164974

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047035

rs_372556002

3 SubmittersRCV000349260 RCV001531808 RCV002248545

NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)

SNV
Germline

Chr13:110173974

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047263

rs_769021800

5 SubmittersRCV000311898 RCV002056345 RCV002248556 RCV004021561

NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)

SNV
Germline

Chr13:110178066

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047543

rs_201964644

6 SubmittersRCV000363989 RCV000904627 RCV002248569

NM_001845.6(COL4A1):c.2262C>T (p.Pro754=)

SNV
Germline

Chr13:110179353

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642791

rs_750538499

2 SubmittersRCV000318924 RCV002248571 RCV002522265

NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)

SNV
Germline

Chr13:110181359

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047693

rs_150129180

4 SubmittersRCV000880929 RCV004975431

NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg)

SNV
Germline

Chr13:110203571

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity

Criteria Provided
Conflicting Classifications

CA7048174

rs_150182714

5 SubmittersRCV000274422 RCV001859863 RCV002248584 RCV005003636

NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)

SNV
Germline

Chr13:110212475

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Inborn genetic diseases
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7048557

rs_138269346

8 SubmittersRCV000329791 RCV001557741 RCV002522266 RCV002248598 RCV004739679

NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu)

SNV
Germline

Chr13:110166243

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047067

rs_189728415

3 SubmittersRCV000267397 RCV001569643 RCV002248547

NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)

SNV
Germline

Chr13:110175252

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7047369

rs_375787099

6 SubmittersRCV000392822 RCV001850641 RCV002248561 RCV004739678

NM_001845.6(COL4A1):c.2344+11G>A

SNV
Germline

Chr13:110179260

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10643738

rs_886049960

2 SubmittersRCV000333995 RCV002248570 RCV002056347

NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)

SNV
Germline

Chr13:110186424

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7047812

rs_372803920

5 SubmittersRCV000291100 RCV002248578 RCV001840485 RCV004800383

NM_001845.6(COL4A1):c.-103G>A

SNV
Germline

Chr13:110307130

Conflicting classifications of pathogenicity

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10643749

rs_538721412

2 SubmittersRCV002248605 RCV002262971

NM_001845.6(COL4A1):c.3797G>A (p.Gly1266Asp)

SNV
Germline

Chr13:110169708

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042819

rs_1057518100

1 SubmittersRCV000414372

NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys)

SNV
Germline

Chr13:110205367

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA16042820

rs_1057517719

2 SubmittersRCV000414476

NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=)

SNV
Germline

Chr13:110172721

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA16043683

rs_1057518654

1 SubmittersRCV002248650

NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr13:110209988

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA16043839

rs_1057519191

3 SubmittersRCV000415853

NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg)

SNV
Germline

Chr13:110174740

Pathogenic/Likely pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA16606387

rs_1057523325

2 SubmittersRCV000442463 RCV003988844

NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)

SNV
Germline

Chr13:110179298

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity
COL4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16606390

rs_672601347

9 SubmittersRCV000437521 RCV000623415 RCV002283479 RCV002502498 RCV004739722

NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)

SNV
Germline

Chr13:110179387

Pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16606631

rs_1057523354

2 SubmittersRCV000429348 RCV002248658

NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)

SNV
Germline

Chr13:110167161

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7047098

rs_377122126

7 SubmittersRCV001114723 RCV001721546 RCV002248697 RCV004535495 RCV005434957

NM_001845.6(COL4A1):c.2627-1G>A

SNV
Germline

Chr13:110177932

Conflicting classifications of pathogenicity

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA16619612

rs_1064796811

2 SubmittersRCV000478673 RCV003388836

NM_001845.6(COL4A1):c.2282G>T (p.Gly761Val)

SNV
Germline

Chr13:110179333

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16619613

rs_1064795130

2 SubmittersRCV000486066

NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp)

SNV
Germline

Chr13:110181389

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16619614

rs_1064795935

2 SubmittersRCV000479520 RCV000624754

NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val)

SNV
Germline

Chr13:110186462

Conflicting classifications of pathogenicity

Condition: not provided
COL4A1-related disorder
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Conflicting Classifications

CA7047821

rs_148781420

5 SubmittersRCV000486979 RCV004535533 RCV005004186

NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser)

SNV
Germline

Chr13:110186481

Pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA16619615

rs_1064794777

3 SubmittersRCV000480157 RCV004584728

NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)

SNV
Germline

Chr13:110205388

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
COL4A1-related disorder
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Melanoma
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Conflicting Classifications

CA7048216

rs_370677625

7 SubmittersRCV000478856 RCV002525922 RCV003762750 RCV005010396 RCV005899663 RCV006254068

NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu)

SNV
Germline

Chr13:110161249

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA388657213

rs_1085307967

2 SubmittersRCV000489140

NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg)

SNV
Germline

Chr13:110169745

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388662034

rs_1085307614

2 SubmittersRCV000489882

NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg)

SNV
Germline

Chr13:110170574

Pathogenic

Condition: not provided
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Single Submitter

CA388662309

rs_1085307709

3 SubmittersRCV000489551 RCV001824139

NM_001845.6(COL4A1):c.3611G>A (p.Gly1204Glu)

SNV
Germline

Chr13:110170678

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662728

rs_1085307907

1 SubmittersRCV000489733

NM_001845.6(COL4A1):c.3497G>T (p.Gly1166Val)

SNV
Germline

Chr13:110173908

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664114

rs_1085307982

1 SubmittersRCV000489567

NM_001845.6(COL4A1):c.3371G>A (p.Gly1124Glu)

SNV
Germline

Chr13:110174481

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664390

rs_1085307568

1 SubmittersRCV000490152

NM_001845.6(COL4A1):c.324+1G>A

SNV
Germline

Chr13:110212573

Pathogenic

Condition: not provided
Uterine corpus endometrial carcinoma

Criteria Provided
Single Submitter

CA388726515

rs_1085307816

2 SubmittersRCV000490067 RCV005899717

NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg)

SNV
Germline

Chr13:110187236

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388723047

rs_1131691834

1 SubmittersRCV000493871

NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)

SNV
Germline

Chr13:110183010

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388669073

rs_1555303720

2 SubmittersRCV002248739 RCV003322607

NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val)

SNV
Germline

Chr13:110175312

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA388665600

rs_1555302922

1 SubmittersRCV002248744

NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)

SNV
Germline

Chr13:110186444

Conflicting classifications of pathogenicity

not specified
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047817

rs_146091004

4 SubmittersRCV000517036 RCV001109408 RCV001313192 RCV002248749

NM_001845.6(COL4A1):c.553-10T>C

SNV
Germline

Chr13:110210052

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7048444

rs_370673476

2 SubmittersRCV000517488 RCV002060236

NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)

SNV
Germline

Chr13:110210163

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity

Criteria Provided
Conflicting Classifications

CA7048467

rs_567124920

3 SubmittersRCV000516220 RCV002506249

NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp)

SNV
Germline

Chr13:110192257

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388723400

rs_113994104

1 SubmittersRCV000523396

NM_001845.6(COL4A1):c.3556+1G>T

SNV
Germline

Chr13:110172719

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388663683

rs_1555302645

1 SubmittersRCV000578931

NM_001845.6(COL4A1):c.1085-2A>G

SNV
Germline

Chr13:110200891

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388724304

rs_1555305593

1 SubmittersRCV000578656

NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)

SNV
Germline

Chr13:110176912

Pathogenic

Optic nerve hypoplasia

Criteria Provided
Single Submitter

CA388666800

rs_1555303073

1 SubmittersRCV000590892

NM_001845.6(COL4A1):c.4640+3G>T

SNV
Germline

Chr13:110161189

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7046883

rs_770167198

4 SubmittersRCV000610386 RCV001092921

NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)

SNV
Germline

Chr13:110150392

Conflicting classifications of pathogenicity

Inborn genetic diseases
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA388653526

rs_1555300086

4 SubmittersRCV000623377 RCV002255156 RCV002532839 RCV006249659

NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu)

SNV
Germline

Chr13:110170615

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388662455

rs_1555302454

1 SubmittersRCV000623927

NM_001845.6(COL4A1):c.3505+1G>A

SNV
Germline

Chr13:110173899

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388664097

rs_1555302735

1 SubmittersRCV000624886

NM_001845.6(COL4A1):c.3067G>A (p.Gly1023Arg)

SNV
Germline

Chr13:110175349

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388665678

rs_1555302942

1 SubmittersRCV000624384

NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu)

SNV
Germline

Chr13:110176450

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388665765

rs_1555303010

1 SubmittersRCV000624047

NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)

SNV
Germline

Chr13:110186475

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Congenital anomaly of kidney and urinary tract
Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7047822

rs_747585517

7 SubmittersRCV000625809 RCV001529466 RCV001849420 RCV005367458 RCV005004277

NM_001845.6(COL4A1):c.3683G>T (p.Gly1228Val)

SNV
Germline

Chr13:110170606

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662422

rs_1555302449

1 SubmittersRCV000657973

NM_001845.6(COL4A1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr13:110307026

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388732804

rs_1555318328

1 SubmittersRCV000658682

NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu)

SNV
Germline

Chr13:110174712

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664684

rs_1566349968

1 SubmittersRCV000710802

NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)

SNV
Germline

Chr13:110175246

Conflicting classifications of pathogenicity

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7047368

rs_569940067

4 SubmittersRCV000710801 RCV003221303 RCV005010718 RCV005223134

NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp)

SNV
Germline

Chr13:110179324

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388668629

rs_1566353677

2 SubmittersRCV000710800

NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)

SNV
Germline

Chr13:110201466

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Conflicting Classifications

CA7048106

rs_531373470

5 SubmittersRCV000710796 RCV001109523 RCV002249432 RCV005004383

NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val)

SNV
Germline

Chr13:110201482

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388724404

rs_1566370178

1 SubmittersRCV000710794

NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala)

SNV
Germline

Chr13:110210041

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388725547

rs_1566376798

2 SubmittersRCV000722466

NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)

SNV
Germline

Chr13:110176635

Pathogenic/Likely pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388666130

rs_1566351456

2 SubmittersRCV000761859 RCV003227850

NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg)

SNV
Germline

Chr13:110192857

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Conflicting Classifications

CA388723524

rs_1461754052

4 SubmittersRCV000770969 RCV001855735 RCV005357994 RCV005004408

NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg)

SNV
Germline

Chr13:110181300

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388668850

rs_1594555106

1 SubmittersRCV002249490

NM_001845.6(COL4A1):c.2969G>T (p.Gly990Val)

SNV
Germline

Chr13:110176513

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388666026

rs_1594550371

1 SubmittersRCV000822448

NM_001845.6(COL4A1):c.*35C>A

SNV
Germline

Chr13:110150328

Pathogenic

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

No Assertion Criteria Provided

CA1139663085

rs_1876438936

1 SubmittersRCV000850144

NM_001845.6(COL4A1):c.*31G>T

SNV
Germline

Chr13:110150332

Pathogenic

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Condition: not provided

Criteria Provided
Single Submitter

CA2499221945

rs_2138415342

2 SubmittersRCV000850145 RCV006464519

NM_001845.6(COL4A1):c.*32G>T

SNV
Germline

Chr13:110150331

Pathogenic

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Condition: not provided

Criteria Provided
Single Submitter

CA2118723145

rs_1876439052

2 SubmittersRCV000850146 RCV002536170

NM_001845.6(COL4A1):c.*32G>A

SNV
Germline

Chr13:110150331

Likely pathogenic

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA2499221944

rs_1876439052

2 SubmittersRCV000850147 RCV002307636

NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser)

SNV
Germline

Chr13:110177854

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7047513

rs_779350720

3 SubmittersRCV000952639 RCV002489312

NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu)

SNV
Germline

Chr13:110178148

Conflicting classifications of pathogenicity

Condition: not provided
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7047560

rs_144207910

5 SubmittersRCV000952211 RCV004533660

NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp)

SNV
Germline

Chr13:110192869

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
not specified

Criteria Provided
Conflicting Classifications

CA7047940

rs_369960952

4 SubmittersRCV000893926 RCV001112180 RCV002249572 RCV005436276

NM_001845.6(COL4A1):c.2517G>A (p.Pro839=)

SNV
Germline

Chr13:110178173

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Conflicting Classifications

CA7047565

rs_773443475

4 SubmittersRCV000942644 RCV001109303 RCV002249581 RCV005004470

NM_001845.6(COL4A1):c.1092A>T (p.Pro364=)

SNV
Germline

Chr13:110200882

Conflicting classifications of pathogenicity

Condition: not provided
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Conflicting Classifications

CA7048056

rs_141208458

2 SubmittersRCV000933205 RCV005004469

NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)

SNV
Germline

Chr13:110177853

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7047512

rs_146134172

7 SubmittersRCV000983902 RCV001114940 RCV002249594 RCV004536007

NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)

SNV
Germline

Chr13:110186547

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047836

rs_141527136

7 SubmittersRCV000981715 RCV001664585 RCV003169512

NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser)

SNV
Germline

Chr13:110212437

Conflicting classifications of pathogenicity

Condition: not provided
COL4A1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7048548

rs_138503916

5 SubmittersRCV000981670 RCV004543661 RCV004973224

NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg)

SNV
Unknown

Chr13:110186448

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388722639

rs_1594560766

1 SubmittersRCV000989164

NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)

SNV
Germline

Chr13:110177889

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047519

rs_139859950

5 SubmittersRCV000991609 RCV005801966

NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg)

SNV
Germline

Chr13:110176912

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388666798

rs_1555303073

1 SubmittersRCV002249672

NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)

SNV
Germline

Chr13:110164967

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047032

rs_761077330

5 SubmittersRCV001092923 RCV002554858

NM_001845.6(COL4A1):c.3995G>A (p.Gly1332Asp)

SNV
Germline

Chr13:110166258

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388660555

rs_1877331560

1 SubmittersRCV001090423

NM_001845.6(COL4A1):c.3932G>A (p.Gly1311Glu)

SNV
Germline

Chr13:110167175

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388661206

rs_1877384330

2 SubmittersRCV001090424

NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala)

SNV
Germline

Chr13:110167202

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA388661319

rs_1877385413

2 SubmittersRCV001090425

NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)

SNV
Germline

Chr13:110174641

Pathogenic/Likely pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388664534

rs_1877796698

5 SubmittersRCV001090427 RCV006449280

NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)

SNV
Germline

Chr13:110183080

Pathogenic/Likely pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA388722266

rs_1878248687

10 SubmittersRCV001090430 RCV002271619 RCV003763804

NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu)

SNV
Germline

Chr13:110181353

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA388668953

rs_1878142219

1 SubmittersRCV002249683

NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)

SNV
Germline

Chr13:110177917

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Congenital anomaly of kidney and urinary tract
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7047525

rs_775563545

5 SubmittersRCV001114942 RCV001849473 RCV002249727 RCV003718333 RCV005005048

NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)

SNV
Germline

Chr13:110179282

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047638

rs_750620293

5 SubmittersRCV001111628 RCV002249712 RCV002556176 RCV005802016

NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)

SNV
Germline

Chr13:110179330

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7047648

rs_374930028

8 SubmittersRCV001111630 RCV001357253 RCV002249713 RCV004032166 RCV005432583

NM_001845.6(COL4A1):c.1752G>A (p.Glu584=)

SNV
Germline

Chr13:110186530

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047835

rs_765423555

2 SubmittersRCV001111731 RCV002249700 RCV005093507

NM_001845.6(COL4A1):c.1605C>T (p.Phe535=)

SNV
Germline

Chr13:110187261

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047871

rs_139448202

2 SubmittersRCV001111733 RCV002069804 RCV002249714

NM_001845.6(COL4A1):c.1470C>T (p.Phe490=)

SNV
Germline

Chr13:110192280

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047909

rs_749215704

3 SubmittersRCV001112176 RCV002249717 RCV005408701 RCV006465387

NM_001845.6(COL4A1):c.-90G>A

SNV
Germline

Chr13:110307117

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256274491

rs_113651836

2 SubmittersRCV001113807 RCV002249702 RCV003396751

NM_001845.6(COL4A1):c.2344+12C>A

SNV
Germline

Chr13:110179259

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047636

rs_373696600

2 SubmittersRCV001111626 RCV002069801 RCV002249711

NM_001845.6(COL4A1):c.234+9G>A

SNV
Germline

Chr13:110213917

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA256246008

rs_374115295

2 SubmittersRCV001112015 RCV002069809 RCV002249716

NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala)

SNV
Germline

Chr13:110183005

Conflicting classifications of pathogenicity

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388669067

rs_1878244032

2 SubmittersRCV002249783 RCV002559259

NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg)

SNV
Germline

Chr13:110186553

Conflicting classifications of pathogenicity

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256265043

rs_752009614

5 SubmittersRCV002249782 RCV001859190

NM_001845.6(COL4A1):c.4151G>A (p.Gly1384Asp)

SNV
Germline

Chr13:110163561

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388659509

rs_1877185960

2 SubmittersRCV001281220 RCV005094191

NM_001845.6(COL4A1):c.3112G>A (p.Gly1038Ser)

SNV
Germline

Chr13:110175304

Pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388665587

rs_1877832657

1 SubmittersRCV001281219

NM_001845.6(COL4A1):c.1793G>T (p.Gly598Val)

SNV
Germline

Chr13:110186489

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388722711

rs_1878411691

1 SubmittersRCV001281217

NM_001845.6(COL4A1):c.3068G>C (p.Gly1023Ala)

SNV
Germline

Chr13:110175348

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388665674

rs_1877834934

1 SubmittersRCV001251513

NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu)

SNV
Germline

Chr13:110174640

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388664530

rs_1877796592

1 SubmittersRCV002246242

NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser)

SNV
Germline

Chr13:110169673

Conflicting classifications of pathogenicity

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047131

rs_757453900

3 SubmittersRCV002246243 RCV002568742

NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu)

SNV
Germline

Chr13:110178931

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388668255

rs_1878013473

1 SubmittersRCV002246246

NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys)

SNV
Germline

Chr13:110152419

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies
See cases
COL4A1-related disorder

Criteria Provided
Single Submitter

CA388654322

rs_1876543576

2 SubmittersRCV002246256 RCV003153965 RCV004727057

NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser)

SNV
Germline

Chr13:110172720

Likely pathogenic

Microcephaly
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388663693

rs_1877701802

2 SubmittersRCV001375492 RCV002246257

NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp)

SNV
Unknown

Chr13:110174730

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388664743

rs_1877801384

2 SubmittersRCV002246258

NM_001845.6(COL4A1):c.1180G>C (p.Gly394Arg)

SNV
Germline

Chr13:110198572

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388724091

rs_1879015838

1 SubmittersRCV001265690

NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu)

SNV
Germline

Chr13:110178099

Likely pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388667785

rs_1877963897

2 SubmittersRCV001268878 RCV004017815

NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg)

SNV
Unknown

Chr13:110178082

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388667748

rs_1877962670

1 SubmittersRCV002246270

NM_001845.6(COL4A1):c.3707G>T (p.Gly1236Val)

SNV
Germline

Chr13:110170582

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662339

rs_2501761416

1 SubmittersRCV001281596

NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe)

SNV
Germline

Chr13:110176466

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA388665827

rs_1877889898

1 SubmittersRCV002246276

NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu)

SNV
Germline

Chr13:110178934

Conflicting classifications of pathogenicity

Condition: not provided
COL4A1-related disorder
Inborn genetic diseases
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Conflicting Classifications

CA7047597

rs_781249721

7 SubmittersRCV001289267 RCV004531065 RCV004035569 RCV005012720

NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)

SNV
Germline

Chr13:110181341

Conflicting classifications of pathogenicity

not specified
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047690

rs_199573161

5 SubmittersRCV001289266 RCV002499510 RCV002538375

NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser)

SNV
Germline

Chr13:110176463

Conflicting classifications of pathogenicity

Condition: not provided
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7047409

rs_141418421

5 SubmittersRCV001308578 RCV004740662

NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys)

SNV
Germline

Chr13:110170577

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047170

rs_148801165

4 SubmittersRCV001311350 RCV002545040

NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter)

SNV
Unknown

Chr13:110152375

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388654164

rs_542803991

1 SubmittersRCV002246309

NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu)

SNV
Germline

Chr13:110169735

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388661988

rs_1877518903

3 SubmittersRCV002246308 RCV006605334

NM_001845.6(COL4A1):c.3406G>A (p.Gly1136Ser)

SNV
Germline

Chr13:110174446

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA388664316

rs_1877783774

2 SubmittersRCV001328881 RCV005911072

NM_001845.6(COL4A1):c.2458+1G>A

SNV
Germline

Chr13:110178922

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388668225

rs_1878012979

2 SubmittersRCV002246306 RCV003558806

NM_001845.6(COL4A1):c.3742+1G>A

SNV
Germline

Chr13:110170546

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388662199

rs_2139156007

2 SubmittersRCV002246349

NM_001845.6(COL4A1):c.4755+1G>T

SNV
Germline

Chr13:110155282

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388655471

rs_1332002484

1 SubmittersRCV001377159

NM_001845.6(COL4A1):c.2036G>A (p.Gly679Glu)

SNV
Germline

Chr13:110183052

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388722212

rs_2139169535

1 SubmittersRCV001376773

NM_001845.6(COL4A1):c.227G>C (p.Gly76Ala)

SNV
Germline

Chr13:110213933

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388727026

rs_775754972

1 SubmittersRCV001379660

NM_001845.6(COL4A1):c.388-1G>C

SNV
Germline

Chr13:110211923

Pathogenic/Likely pathogenic

Abnormal cerebral cortex morphology
Corpus callosum, agenesis of
Colpocephaly
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388726273

rs_766209938

4 SubmittersRCV001391264 RCV002250761 RCV001872000

NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)

SNV
Germline

Chr13:110166256

Conflicting classifications of pathogenicity

Condition: not provided
Congenital anomaly of kidney and urinary tract
Inborn genetic diseases
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Conflicting Classifications

CA7047072

rs_141395813

8 SubmittersRCV001507832 RCV001849517 RCV002567978 RCV002476808

NM_001845.6(COL4A1):c.3245G>T (p.Gly1082Val)

SNV
Germline

Chr13:110174703

Pathogenic

Porencephaly

Criteria Provided
Single Submitter

CA388664661

rs_2139160399

1 SubmittersRCV001526631

NM_001845.6(COL4A1):c.4114G>C (p.Gly1372Arg)

SNV
Unknown

Chr13:110164898

Pathogenic

Cerebral palsy

Criteria Provided
Single Submitter

CA388660049

rs_2139149224

1 SubmittersRCV001796563

NM_001845.6(COL4A1):c.1258G>A (p.Gly420Arg)

SNV
Unknown

Chr13:110198494

Likely pathogenic

Cerebral palsy

Criteria Provided
Single Submitter

CA388723935

rs_2139187274

1 SubmittersRCV001796560

NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr)

SNV
Germline

Chr13:110211880

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity

Criteria Provided
Conflicting Classifications

CA7048518

rs_778175625

3 SubmittersRCV001532734 RCV002488357

NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)

SNV
Germline

Chr13:110187164

Conflicting classifications of pathogenicity

Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
COL4A1 or COL4A2-related cerebral small vessel disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256265366

rs_375477517

4 SubmittersRCV002246414 RCV003225188 RCV003718414

NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)

SNV
Germline

Chr13:110186528

Conflicting classifications of pathogenicity

Condition: not provided
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
COL4A1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047833

rs_754034347

8 SubmittersRCV001573118 RCV002495913 RCV004536208 RCV004611850

NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter)

SNV
Germline

Chr13:110186412

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA388722565

rs_1188823925

2 SubmittersRCV001580110

NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg)

SNV
Germline

Chr13:110192875

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047941

rs_752346924

7 SubmittersRCV001579960 RCV003365437

NM_001845.6(COL4A1):c.2861G>C (p.Gly954Ala)

SNV
Germline

Chr13:110176893

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388666710

rs_2139162968

1 SubmittersRCV001598483

NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu)

SNV
Unknown

Chr13:110176724

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388666509

rs_2139162781

1 SubmittersRCV001663424

NM_001845.6(COL4A1):c.144+1G>A

SNV
Unknown

Chr13:110242674

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388731341

rs_2139245731

1 SubmittersRCV002246461

NM_001845.6(COL4A1):c.589G>T (p.Gly197Trp)

SNV
Germline

Chr13:110210006

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388725479

rs_2139202259

1 SubmittersRCV001726902

NM_001845.6(COL4A1):c.3761G>A (p.Gly1254Glu)

SNV
Germline

Chr13:110169744

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388662028

rs_2139154554

1 SubmittersRCV002246467

NM_001845.6(COL4A1):c.4250-1G>A

SNV
Germline

Chr13:110162443

Pathogenic/Likely pathogenic

Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388658724

rs_2139146298

3 SubmittersRCV002246469 RCV002283557 RCV003574883

NM_001845.6(COL4A1):c.43G>A (p.Ala15Thr)

SNV
Germline

Chr13:110306985

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA256274317

rs_991189007

4 SubmittersRCV001757797 RCV005006035 RCV005540493

NM_001845.6(COL4A1):c.3584G>C (p.Gly1195Ala)

SNV
Germline

Chr13:110170705

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388663394

rs_2139156261

2 SubmittersRCV001758932

NM_001845.6(COL4A1):c.3806G>A (p.Gly1269Glu)

SNV
Germline

Chr13:110169699

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388661834

rs_2139154502

1 SubmittersRCV001753224

NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg)

SNV
Germline

Chr13:110170715

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA388663441

rs_2139156269

2 SubmittersRCV002540715

NM_001845.6(COL4A1):c.3620G>A (p.Gly1207Glu)

SNV
Germline

Chr13:110170669

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662690

rs_2139156207

1 SubmittersRCV001776484

NM_001845.6(COL4A1):c.4150+1G>A

SNV
Germline

Chr13:110164861

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388659921

rs_2139149159

2 SubmittersRCV001780549

NM_001845.6(COL4A1):c.2636G>A (p.Gly879Glu)

SNV
Germline

Chr13:110177922

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388667667

rs_2139164015

2 SubmittersRCV001780817

NM_001845.6(COL4A1):c.2878G>A (p.Gly960Arg)

SNV
Germline

Chr13:110176716

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388666473

rs_2139162773

1 SubmittersRCV001780818

NM_001845.6(COL4A1):c.1945G>A (p.Gly649Arg)

SNV
Germline

Chr13:110183229

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388722404

rs_2139169795

2 SubmittersRCV001780819

NM_001845.6(COL4A1):c.3850G>A (p.Gly1284Arg)

SNV
Germline

Chr13:110169655

Likely pathogenic

Condition: not provided
COL4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA388661736

rs_2139154447

2 SubmittersRCV001780820 RCV006270515

NM_001845.6(COL4A1):c.1991-2A>G

SNV
Germline

Chr13:110183099

Likely pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388722304

rs_2139169623

2 SubmittersRCV001780821 RCV004564713

NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)

SNV
Germline

Chr13:110183008

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7047729

rs_760462654

5 SubmittersRCV001786280 RCV002541243 RCV002489831

NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg)

SNV
Germline

Chr13:110179414

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047666

rs_527530568

8 SubmittersRCV001795740 RCV002489838 RCV005320871

NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter)

SNV
Germline

Chr13:110161286

Pathogenic/Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
See cases
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA388657357

rs_1594535661

4 SubmittersRCV002246513 RCV002252706 RCV005005287

NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter)

SNV
Germline

Chr13:110176692

Pathogenic/Likely pathogenic

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388666370

rs_1877904298

3 SubmittersRCV001808019 RCV003669244

NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser)

SNV
Germline

Chr13:110176966

Pathogenic/Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided
COL4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA388667043

rs_2139163058

5 SubmittersRCV002246527 RCV002542440 RCV006262003

NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser)

SNV
Germline

Chr13:110179325

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388668633

rs_2139165584

1 SubmittersRCV002246529

NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser)

SNV
Germline

Chr13:110176505

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388665988

rs_2139162416

1 SubmittersRCV002246531

NM_001845.6(COL4A1):c.1502G>A (p.Gly501Asp)

SNV
Germline

Chr13:110192248

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388723379

rs_2139179173

2 SubmittersRCV002542745 RCV001823797

NM_001845.6(COL4A1):c.4357C>T (p.Gln1453Ter)

SNV
Unknown

Chr13:110162335

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388658155

rs_2139146179

1 SubmittersRCV001837730

NM_001845.6(COL4A1):c.2545G>A (p.Gly849Arg)

SNV
Germline

Chr13:110178145

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA388667872

rs_2139164265

1 SubmittersRCV002246544

NM_001845.6(COL4A1):c.2782G>C (p.Asp928His)

SNV
Germline

Chr13:110176972

Likely pathogenic

Congenital anomaly of kidney and urinary tract

No Assertion Criteria Provided

CA388667067

rs_2139163073

1 SubmittersRCV001849677

NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)

SNV
Germline

Chr13:110179030

Conflicting classifications of pathogenicity

HANAC-like syndrome
Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Conflicting Classifications

CA7047612

rs_372750171

6 SubmittersRCV001849704 RCV002074421 RCV005006092

NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)

SNV
Germline

Chr13:110175255

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA256254248

rs_758076661

4 SubmittersRCV002034853 RCV002503347 RCV005804283

NM_001845.6(COL4A1):c.2327G>T (p.Gly776Val)

SNV
Germline

Chr13:110179288

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388668558

rs_2139165521

1 SubmittersRCV001966385

NM_001845.6(COL4A1):c.1648G>C (p.Gly550Arg)

SNV
Germline

Chr13:110187218

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388723009

rs_2139173980

1 SubmittersRCV001991927

NM_001845.6(COL4A1):c.554G>A (p.Gly185Asp)

SNV
Germline

Chr13:110210041

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388725548

rs_1566376798

1 SubmittersRCV002050399

NM_001845.6(COL4A1):c.2636G>C (p.Gly879Ala)

SNV
Germline

Chr13:110177922

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667665

rs_2139164015

1 SubmittersRCV002032289

NM_001845.6(COL4A1):c.4408G>A (p.Gly1470Arg)

SNV
Germline

Chr13:110162284

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388657957

rs_2139146124

1 SubmittersRCV001999873

NM_001845.6(COL4A1):c.452G>A (p.Gly151Asp)

SNV
Germline

Chr13:110211663

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388726094

rs_2139204356

1 SubmittersRCV002015246

NM_001845.6(COL4A1):c.1990+4C>T

SNV
Germline

Chr13:110183180

Conflicting classifications of pathogenicity

Condition: not provided
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047765

rs_771634502

3 SubmittersRCV001947798 RCV005006226

NM_001845.6(COL4A1):c.2556C>T (p.Gly852=)

SNV
Germline

Chr13:110178134

Conflicting classifications of pathogenicity

Condition: not provided
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Conflicting Classifications

CA484980888

rs_1474061940

2 SubmittersRCV001890812 RCV005002636

NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)

SNV
Germline

Chr13:110175229

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
COL4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA388665438

rs_1877827904

3 SubmittersRCV001938389 RCV002484524 RCV004529048

NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)

SNV
Germline

Chr13:110164983

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7047038

rs_540983592

3 SubmittersRCV001938156 RCV002491891

NM_001845.6(COL4A1):c.3235G>A (p.Gly1079Arg)

SNV
Germline

Chr13:110174713

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664687

rs_2139160417

1 SubmittersRCV002013155

NM_001845.6(COL4A1):c.1382-2A>G

SNV
Germline

Chr13:110192915

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388723649

rs_758420618

1 SubmittersRCV001969572

NM_001845.6(COL4A1):c.4755+3A>G

SNV
Germline

Chr13:110155280

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7046831

rs_570472326

3 SubmittersRCV001980027 RCV002563515 RCV005002708

NM_001845.6(COL4A1):c.3461G>A (p.Gly1154Asp)

SNV
Germline

Chr13:110173944

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664191

rs_2139159547

1 SubmittersRCV002017423

NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser)

SNV
Germline

Chr13:110155300

Pathogenic

Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA388655536

rs_113994114

2 SubmittersRCV002004576 RCV004043913

NM_001845.6(COL4A1):c.904G>A (p.Gly302Ser)

SNV
Germline

Chr13:110205406

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA7048221

rs_144795487

1 SubmittersRCV001976701

NM_001845.6(COL4A1):c.2560A>G (p.Thr854Ala)

SNV
Germline

Chr13:110178130

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047555

rs_756949024

4 SubmittersRCV001926825 RCV004975902

NM_001845.6(COL4A1):c.1804C>T (p.Pro602Ser)

SNV
Germline

Chr13:110186478

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047823

rs_769247289

3 SubmittersRCV002024542 RCV006372579

NM_001845.6(COL4A1):c.3655G>C (p.Gly1219Arg)

SNV
Germline

Chr13:110170634

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662538

rs_2139156141

1 SubmittersRCV002024680

NM_001845.6(COL4A1):c.2458+2T>C

SNV
Germline

Chr13:110178921

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388668219

rs_1436175370

2 SubmittersRCV001993374 RCV005006307

NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu)

SNV
Germline

Chr13:110169762

Likely pathogenic

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA388662101

rs_2139154591

2 SubmittersRCV002012358 RCV003994375

NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg)

SNV
Germline

Chr13:110170697

Pathogenic/Likely pathogenic

Condition: not provided
COL4A1 or COL4A2-related cerebral small vessel disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388663359

rs_2139156247

3 SubmittersRCV001994867 RCV002471200

NM_001845.6(COL4A1):c.155G>T (p.Gly52Val)

SNV
Germline

Chr13:110214005

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388727179

rs_2139207389

1 SubmittersRCV002033280

NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)

SNV
Germline

Chr13:110152406

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7046783

rs_747250117

3 SubmittersRCV002015304 RCV002492296

NM_001845.6(COL4A1):c.1889G>A (p.Gly630Asp)

SNV
Germline

Chr13:110186393

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388722529

rs_2139173182

1 SubmittersRCV001995020

NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu)

SNV
Germline

Chr13:110179399

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7047663

rs_778390847

4 SubmittersRCV001885941 RCV002482605

NM_001845.6(COL4A1):c.441C>T (p.Pro147=)

SNV
Germline

Chr13:110211869

Conflicting classifications of pathogenicity

Condition: not provided
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Conflicting Classifications

CA7048515

rs_201812821

3 SubmittersRCV001903521 RCV002503554

NM_001845.6(COL4A1):c.2414G>A (p.Gly805Glu)

SNV
Germline

Chr13:110178967

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA256259304

rs_868858094

1 SubmittersRCV002048359

NM_001845.6(COL4A1):c.3655G>T (p.Gly1219Ter)

SNV
Germline

Chr13:110170634

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662537

rs_2139156141

1 SubmittersRCV001955785

NM_001845.6(COL4A1):c.2264G>A (p.Gly755Glu)

SNV
Germline

Chr13:110179351

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388668684

rs_1878041974

1 SubmittersRCV001980484

NM_001845.6(COL4A1):c.1145G>A (p.Gly382Asp)

SNV
Germline

Chr13:110198607

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388724167

rs_2139187455

2 SubmittersRCV005622158 RCV002026669

NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)

SNV
Germline

Chr13:110195039

Conflicting classifications of pathogenicity

Condition: not provided
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity

Criteria Provided
Conflicting Classifications

CA7047981

rs_576636085

3 SubmittersRCV002005187 RCV002507731

NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)

SNV
Germline

Chr13:110170591

Conflicting classifications of pathogenicity

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA388662370

rs_1348341976

3 SubmittersRCV002007761 RCV003493901

NM_001845.6(COL4A1):c.4462+3A>G

SNV
Germline

Chr13:110162227

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
not specified
Primary membranoproliferative glomerulonephritis

Criteria Provided
Conflicting Classifications

CA7046936

rs_201116557

5 SubmittersRCV001867089 RCV002503388 RCV005438103 RCV005626511

NM_001845.6(COL4A1):c.3638G>A (p.Gly1213Asp)

SNV
Germline

Chr13:110170651

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662607

rs_2139156180

1 SubmittersRCV002043747

NM_001845.6(COL4A1):c.4022-1G>A

SNV
Germline

Chr13:110164991

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388660367

rs_2139149392

1 SubmittersRCV002246663

NM_001845.6(COL4A1):c.2458+1G>C

SNV
Germline

Chr13:110178922

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388668223

rs_1878012979

1 SubmittersRCV002246664

NM_001845.6(COL4A1):c.2869G>A (p.Gly957Arg)

SNV
Germline

Chr13:110176885

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388666674

rs_2139162955

1 SubmittersRCV002246665

NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu)

SNV
Germline

Chr13:110155332

Conflicting classifications of pathogenicity

Condition: not provided
not specified
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7046843

rs_75885959

3 SubmittersRCV002174881 RCV004782871 RCV004538790

NM_001845.6(COL4A1):c.1545A>T (p.Gln515His)

SNV
Germline

Chr13:110187321

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047881

rs_144950610

2 SubmittersRCV002144630

NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)

SNV
Germline

Chr13:110186529

Conflicting classifications of pathogenicity

Condition: not provided
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA7047834

rs_374223828

3 SubmittersRCV002125229 RCV004531462

NM_001845.6(COL4A1):c.4839C>T (p.Phe1613=)

SNV
Germline

Chr13:110152423

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Conflicting Classifications

CA256239256

rs_987149771

2 SubmittersRCV002137742 RCV005002798

NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu)

SNV
Germline

Chr13:110181341

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047689

rs_199573161

2 SubmittersRCV002165612

NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val)

SNV
Germline

Chr13:110152466

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7046799

rs_766472965

4 SubmittersRCV002142736 RCV005321125

NM_001845.6(COL4A1):c.1187G>A (p.Arg396Gln)

SNV
Germline

Chr13:110198565

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA7048026

rs_138266832

4 SubmittersRCV002119894 RCV005542712 RCV005626603

NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser)

SNV
Germline

Chr13:110163508

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Conflicting Classifications

CA388659319

rs_1179536054

3 SubmittersRCV002210986 RCV005002803

NM_001845.6(COL4A1):c.2978G>C (p.Gly993Ala)

SNV
Germline

Chr13:110176504

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388665984

rs_2139162409

1 SubmittersRCV002211259

NM_001845.6(COL4A1):c.2281G>A (p.Gly761Arg)

SNV
Germline

Chr13:110179334

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

No Assertion Criteria Provided

CA388668647

rs_2139165606

1 SubmittersRCV002246695

NM_001845.6(COL4A1):c.3298G>T (p.Gly1100Trp)

SNV
Germline

Chr13:110174650

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388664549

rs_2139160332

1 SubmittersRCV002247702

NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp)

SNV
Germline

Chr13:110176706

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388666431

rs_2139162750

1 SubmittersRCV002247704

NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg)

SNV
Germline

Chr13:110178163

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388667911

rs_2139164302

1 SubmittersRCV002247705

NM_001845.6(COL4A1):c.4250-2A>C

SNV
Germline

Chr13:110162444

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388658730

rs_2139146303

1 SubmittersRCV002249004

NM_001845.6(COL4A1):c.2771G>A (p.Gly924Asp)

SNV
Germline

Chr13:110176983

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667118

rs_2139163087

1 SubmittersRCV002269432

NM_001845.6(COL4A1):c.2717G>C (p.Gly906Ala)

SNV
Germline

Chr13:110177037

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388667296

rs_2139163150

1 SubmittersRCV002273284

NM_001845.6(COL4A1):c.1190G>A (p.Gly397Glu)

SNV
Germline

Chr13:110198562

Likely pathogenic

Seizure

No Assertion Criteria Provided

CA388724068

rs_2139187383

1 SubmittersRCV002275898

NM_001845.6(COL4A1):c.2345-2A>G

SNV
Germline

Chr13:110179038

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388668514

rs_2501782514

1 SubmittersRCV002280510

NM_001845.6(COL4A1):c.2413G>A (p.Gly805Arg)

SNV
Germline

Chr13:110178968

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA256259306

rs_113994110

1 SubmittersRCV002285792

NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)

SNV
Germline

Chr13:110208877

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388725303

rs_2501590784

2 SubmittersRCV002287285 RCV003101646

NM_001845.6(COL4A1):c.2708G>A (p.Gly903Asp)

SNV
Germline

Chr13:110177850

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388667387

rs_2501779394

1 SubmittersRCV002287871

NM_001845.6(COL4A1):c.3515G>C (p.Gly1172Ala)

SNV
Germline

Chr13:110172761

Conflicting classifications of pathogenicity

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7047226

rs_761190838

2 SubmittersRCV002289187 RCV003994422

NM_001845.6(COL4A1):c.2690G>T (p.Gly897Val)

SNV
Germline

Chr13:110177868

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667447

rs_2501779464

1 SubmittersRCV002292883

NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)

SNV
Germline

Chr13:110167185

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388661248

rs_2501752012

1 SubmittersRCV002466316

NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)

SNV
Germline

Chr13:110214014

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388727201

rs_2501608143

1 SubmittersRCV002466810

NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)

SNV
Germline

Chr13:110166303

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388660740

rs_2501749906

1 SubmittersRCV002468827

NM_001845.6(COL4A1):c.625G>A (p.Gly209Ser)

SNV
Germline

Chr13:110209418

Pathogenic

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Single Submitter

CA388725400

rs_2501592907

1 SubmittersRCV002468829

NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)

SNV
Germline

Chr13:110187261

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047872

rs_139448202

4 SubmittersRCV002470031 RCV002571444 RCV005002843 RCV005804536

NM_001845.6(COL4A1):c.2626G>C (p.Gly876Arg)

SNV
Germline

Chr13:110178064

Pathogenic

COL4A1 or COL4A2-related cerebral small vessel disease

Criteria Provided
Single Submitter

CA388667710

rs_2501780064

1 SubmittersRCV002471731

NM_001845.6(COL4A1):c.1591G>C (p.Gly531Arg)

SNV
Germline

Chr13:110187275

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388723132

rs_2501800825

1 SubmittersRCV002470464

NM_001845.6(COL4A1):c.4151-10T>C

SNV
Germline

Chr13:110163571

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7046999

rs_756588136

2 SubmittersRCV002475496

NM_001845.6(COL4A1):c.3497G>A (p.Gly1166Asp)

SNV
Germline

Chr13:110173908

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664116

rs_1085307982

1 SubmittersRCV003062607

NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)

SNV
Germline

Chr13:110212461

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7048553

rs_753989899

6 SubmittersRCV003093587 RCV005002947 RCV005250274 RCV006254347

NM_001845.6(COL4A1):c.1730G>T (p.Gly577Val)

SNV
Germline

Chr13:110186552

Likely pathogenic

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA7047838

rs_780492563

2 SubmittersRCV003083545 RCV005010958

NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)

SNV
Germline

Chr13:110206700

Conflicting classifications of pathogenicity

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7048295

rs_368900861

3 SubmittersRCV003087922 RCV005363013

NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly)

SNV
Germline

Chr13:110164954

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047030

rs_138553193

4 SubmittersRCV003367995 RCV003099069

NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)

SNV
Germline

Chr13:110169680

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA484788732

rs_1474341500

2 SubmittersRCV003093177

NM_001845.6(COL4A1):c.1022G>C (p.Gly341Ala)

SNV
Germline

Chr13:110201500

Likely pathogenic

Condition: not provided
COL4A1-related disorder
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity

Criteria Provided
Multiple Submitters
No Conflicts

CA388724444

rs_1879237220

3 SubmittersRCV002617695 RCV004725327 RCV005002854

NM_001845.6(COL4A1):c.1021G>C (p.Gly341Arg)

SNV
Germline

Chr13:110201501

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA388724447

rs_1404271039

3 SubmittersRCV002670925 RCV005804578 RCV006460227

NM_001845.6(COL4A1):c.3262G>A (p.Gly1088Arg)

SNV
Germline

Chr13:110174686

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664626

rs_2501771081

1 SubmittersRCV002810858

NM_001845.6(COL4A1):c.2923G>C (p.Gly975Arg)

SNV
Germline

Chr13:110176671

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388666285

rs_2501776344

1 SubmittersRCV002810822

NM_001845.6(COL4A1):c.3574G>A (p.Gly1192Ser)

SNV
Germline

Chr13:110170715

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388663443

rs_2139156269

1 SubmittersRCV002837760

NM_001845.6(COL4A1):c.2113G>A (p.Gly705Arg)

SNV
Germline

Chr13:110181372

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388668995

rs_2501788055

1 SubmittersRCV002850853

NM_001845.6(COL4A1):c.2690G>A (p.Gly897Asp)

SNV
Germline

Chr13:110177868

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667450

rs_2501779464

1 SubmittersRCV002856298

NM_001845.6(COL4A1):c.85-2A>T

SNV
Germline

Chr13:110242736

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388731606

rs_2501683128

1 SubmittersRCV002861863

NM_001845.6(COL4A1):c.3406G>T (p.Gly1136Cys)

SNV
Germline

Chr13:110174446

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664318

rs_1877783774

1 SubmittersRCV002871201

NM_001845.6(COL4A1):c.2681G>A (p.Gly894Glu)

SNV
Germline

Chr13:110177877

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667480

rs_2501779504

1 SubmittersRCV002857982

NM_001845.6(COL4A1):c.2449G>A (p.Gly817Arg)

SNV
Germline

Chr13:110178932

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388668260

rs_2501782158

1 SubmittersRCV002857811

NM_001845.6(COL4A1):c.2717-1G>A

SNV
Germline

Chr13:110177038

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667303

rs_2501777565

1 SubmittersRCV002900251

NM_001845.6(COL4A1):c.2022G>C (p.Arg674Ser)

SNV
Germline

Chr13:110183066

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047739

rs_755517991

3 SubmittersRCV002907686

NM_001845.6(COL4A1):c.3641C>T (p.Pro1214Leu)

SNV
Germline

Chr13:110170648

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7047188

rs_751951004

3 SubmittersRCV002937510 RCV005542855

NM_001845.6(COL4A1):c.1261C>T (p.Pro421Ser)

SNV
Germline

Chr13:110198491

Conflicting classifications of pathogenicity

Condition: not provided
Brain small vessel disease 1 with or without ocular anomalies
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7048013

rs_570009776

3 SubmittersRCV002904313 RCV005002900 RCV005356216

NM_001845.6(COL4A1):c.1962G>C (p.Pro654=)

SNV
Germline

Chr13:110183212

Conflicting classifications of pathogenicity

Condition: not provided
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047772

rs_375980154

2 SubmittersRCV002967196 RCV005002916

NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)

SNV
Germline

Chr13:110203591

Conflicting classifications of pathogenicity

Condition: not provided
COL4A1-related disorder
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7048177

rs_765125915

4 SubmittersRCV002967872 RCV004536504 RCV005002918

NM_001845.6(COL4A1):c.3877-8G>T

SNV
Germline

Chr13:110167238

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA612622119

rs_370539477

2 SubmittersRCV003002536 RCV005239591

NM_001845.6(COL4A1):c.1103G>A (p.Gly368Asp)

SNV
Germline

Chr13:110200871

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388724264

rs_2501565019

1 SubmittersRCV002976112

NM_001845.6(COL4A1):c.903+1G>A

SNV
Germline

Chr13:110205493

Likely pathogenic

Condition: not provided
Sarcoma

Criteria Provided
Single Submitter

CA388724721

rs_1363290269

2 SubmittersRCV002996676 RCV005926768

NM_001845.6(COL4A1):c.3742+1G>T

SNV
Germline

Chr13:110170546

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662195

rs_2139156007

1 SubmittersRCV003010246

NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)

SNV
Germline

Chr13:110166247

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047068

rs_202209298

5 SubmittersRCV003006425 RCV003006426 RCV005002925

NM_001845.6(COL4A1):c.3443G>T (p.Gly1148Val)

SNV
Germline

Chr13:110173962

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388664231

rs_1216419547

2 SubmittersRCV003046448

NM_001845.6(COL4A1):c.1627A>T (p.Lys543Ter)

SNV
Germline

Chr13:110187239

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388723055

rs_2501800690

1 SubmittersRCV003025265

NM_001845.6(COL4A1):c.3886G>A (p.Gly1296Ser)

SNV
Germline

Chr13:110167221

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388661393

rs_2501752117

1 SubmittersRCV003053914

NM_001845.6(COL4A1):c.4069G>T (p.Gly1357Trp)

SNV
Germline

Chr13:110164943

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388660198

rs_1877266440

3 SubmittersRCV002853713 RCV005002991 RCV005636793

NM_001845.6(COL4A1):c.1728+2T>C

SNV
Germline

Chr13:110187136

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Single Submitter

CA388722843

rs_112314120

2 SubmittersRCV003142254 RCV004560094

NM_001845.6(COL4A1):c.1862G>A (p.Gly621Asp)

SNV
Germline

Chr13:110186420

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388722583

rs_2501798264

1 SubmittersRCV003143290

NM_001845.6(COL4A1):c.3083C>T (p.Pro1028Leu)

SNV
Germline

Chr13:110175333

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Conflicting Classifications

CA7047384

rs_756879840

4 SubmittersRCV003143291 RCV004978782 RCV005003024

NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)

SNV
Unknown

Chr13:110213991

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388727152

rs_2501608003

1 SubmittersRCV003148416

NM_001845.6(COL4A1):c.1465G>A (p.Gly489Ser)

SNV
Unknown

Chr13:110192830

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388723470

rs_2501540839

1 SubmittersRCV003153199

NM_001845.6(COL4A1):c.4454A>G (p.Gln1485Arg)

SNV
Germline

Chr13:110162238

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388657786

rs_2501738034

1 SubmittersRCV003156533

NM_001845.6(COL4A1):c.3742G>A (p.Gly1248Arg)

SNV
Germline

Chr13:110170547

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662204

rs_2501761275

1 SubmittersRCV003159438

NM_001845.6(COL4A1):c.868G>A (p.Gly290Arg)

SNV
Germline

Chr13:110205529

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7048270

rs_757065258

2 SubmittersRCV003179605 RCV003779620

NM_001845.6(COL4A1):c.2485G>T (p.Gly829Cys)

SNV
Germline

Chr13:110178205

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388667995

rs_2501780568

1 SubmittersRCV003223539

NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)

SNV
Germline

Chr13:110183097

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388722298

rs_2501791898

1 SubmittersRCV003232909

NM_001845.6(COL4A1):c.3041G>A (p.Gly1014Asp)

SNV
Germline

Chr13:110176441

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388665744

rs_2501775550

1 SubmittersRCV003312273

NM_001845.6(COL4A1):c.2644G>T (p.Gly882Cys)

SNV
Germline

Chr13:110177914

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388667628

rs_2501779644

1 SubmittersRCV003319597

NM_001845.6(COL4A1):c.1573G>A (p.Gly525Arg)

SNV
Unknown

Chr13:110187293

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388723171

rs_2501800882

1 SubmittersRCV003322721

NM_001845.6(COL4A1):c.976G>A (p.Gly326Ser)

SNV
Germline

Chr13:110203589

Likely pathogenic

Keratoconus

No Assertion Criteria Provided

CA388724548

rs_761712661

1 SubmittersRCV003324670

NM_001845.6(COL4A1):c.4652G>A (p.Cys1551Tyr)

SNV
Germline

Chr13:110155386

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388655839

rs_1594530228

1 SubmittersRCV003332460

NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)

SNV
Unknown

Chr13:110175277

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388665527

rs_2501773131

1 SubmittersRCV003333547

NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)

SNV
Germline

Chr13:110214005

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388727181

rs_2139207389

1 SubmittersRCV003335817

NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)

SNV
Germline

Chr13:110211922

Pathogenic/Likely pathogenic

Irido-corneo-trabecular dysgenesis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388726271

rs_766346293

2 SubmittersRCV003389588 RCV003778172

NM_001845.6(COL4A1):c.3851G>A (p.Gly1284Glu)

SNV
Germline

Chr13:110169654

Likely pathogenic

COL4A1-related disorder

Criteria Provided
Single Submitter

CA388661733

rs_2501757578

1 SubmittersRCV004531559

NM_001845.6(COL4A1):c.2486G>T (p.Gly829Val)

SNV
Germline

Chr13:110178204

Likely pathogenic

COL4A1-related disorder

Criteria Provided
Single Submitter

CA388667992

rs_2501780562

1 SubmittersRCV004529255

NM_001845.6(COL4A1):c.469-7C>A

SNV
Germline

Chr13:110210219

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2623676242

rs_1409868711

2 SubmittersRCV003400497

NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)

SNV
Germline

Chr13:110213987

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388727142

rs_2501607993

2 SubmittersRCV003479586 RCV005100281

NM_001845.6(COL4A1):c.536G>C (p.Gly179Ala)

SNV
Germline

Chr13:110210145

Likely pathogenic

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA388725593

rs_1879717674

3 SubmittersRCV003489342 RCV005003655

NM_001845.6(COL4A1):c.634G>C (p.Gly212Arg)

SNV
Germline

Chr13:110209409

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388725385

rs_878853070

1 SubmittersRCV003489343

NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)

SNV
Germline

Chr13:110201446

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388724330

rs_2501568764

2 SubmittersRCV003493321 RCV003779274

NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)

SNV
Germline

Chr13:110176724

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388666507

rs_2139162781

1 SubmittersRCV003493328

NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)

SNV
Germline

Chr13:110206891

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388725014

rs_2501584950

2 SubmittersRCV003493352 RCV006478710

NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)

SNV
Germline

Chr13:110174455

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388664337

rs_2501770185

1 SubmittersRCV003494092

NM_001845.6(COL4A1):c.2069G>A (p.Gly690Glu)

SNV
Germline

Chr13:110183019

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA256262252

rs_1013805396

2 SubmittersRCV003543130

NM_001845.6(COL4A1):c.2968+1G>A

SNV
Germline

Chr13:110176625

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388666080

rs_2501776220

1 SubmittersRCV003547132

NM_001845.6(COL4A1):c.2077G>C (p.Gly693Arg)

SNV
Germline

Chr13:110183011

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388669077

rs_2501791541

1 SubmittersRCV003544209

NM_001845.6(COL4A1):c.1000-2A>G

SNV
Germline

Chr13:110201524

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388724495

rs_2501569133

1 SubmittersRCV003544592

NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser)

SNV
Germline

Chr13:110187209

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7047864

rs_370670458

2 SubmittersRCV003548390

NM_001845.6(COL4A1):c.1466-1G>C

SNV
Germline

Chr13:110192285

Likely pathogenic

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity

Criteria Provided
Multiple Submitters
No Conflicts

CA256269199

rs_201606177

5 SubmittersRCV003561755 RCV005013014

NM_001845.6(COL4A1):c.3796G>C (p.Gly1266Arg)

SNV
Germline

Chr13:110169709

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388661875

rs_2501757760

1 SubmittersRCV003557808

NM_001845.6(COL4A1):c.4640+10G>C

SNV
Germline

Chr13:110161182

Conflicting classifications of pathogenicity

Condition: not provided
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA2118728235

rs_1877067186

2 SubmittersRCV003563906 RCV005013051

NM_001845.6(COL4A1):c.791G>A (p.Gly264Asp)

SNV
Germline

Chr13:110206881

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388724988

rs_2501584917

1 SubmittersRCV003571008

NM_001845.6(COL4A1):c.3095G>A (p.Gly1032Asp)

SNV
Germline

Chr13:110175321

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388665621

rs_2139161185

1 SubmittersRCV003578136

NM_001845.6(COL4A1):c.3379G>A (p.Gly1127Ser)

SNV
Germline

Chr13:110174473

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664372

rs_2501770318

1 SubmittersRCV003671106

NM_001845.6(COL4A1):c.1547G>A (p.Gly516Asp)

SNV
Germline

Chr13:110187319

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388723220

rs_2501800972

1 SubmittersRCV003679841

NM_001845.6(COL4A1):c.442-1G>C

SNV
Germline

Chr13:110211674

Likely pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA388726123

rs_2501600650

2 SubmittersRCV003711174 RCV005931652

NM_001845.6(COL4A1):c.3199G>A (p.Gly1067Arg)

SNV
Germline

Chr13:110174749

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388664831

rs_2501771259

1 SubmittersRCV003691418

NM_001845.6(COL4A1):c.4021+2T>C

SNV
Germline

Chr13:110166230

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388660450

rs_2501749644

1 SubmittersRCV003693946

NM_001845.6(COL4A1):c.896G>T (p.Gly299Val)

SNV
Germline

Chr13:110205501

Likely pathogenic

Condition: not provided
Melanoma

Criteria Provided
Single Submitter

CA388724737

rs_2501580028

2 SubmittersRCV003683523 RCV005934625

NM_001845.6(COL4A1):c.4408G>C (p.Gly1470Arg)

SNV
Germline

Chr13:110162284

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388657955

rs_2139146124

1 SubmittersRCV003721201

NM_001845.6(COL4A1):c.2689G>C (p.Gly897Arg)

SNV
Germline

Chr13:110177869

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667453

rs_2501779475

1 SubmittersRCV003688046

NM_001845.6(COL4A1):c.4249+10G>A

SNV
Germline

Chr13:110163453

Conflicting classifications of pathogenicity

Condition: not provided
COL4A1-related disorder

Criteria Provided
Conflicting Classifications

CA645573506

rs_1004640402

3 SubmittersRCV003704129 RCV004738832

NM_001845.6(COL4A1):c.1721G>T (p.Gly574Val)

SNV
Germline

Chr13:110187145

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388722859

rs_2501800324

1 SubmittersRCV003699550

NM_001845.6(COL4A1):c.2581G>C (p.Gly861Arg)

SNV
Germline

Chr13:110178109

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667803

rs_2501780225

1 SubmittersRCV003699551

NM_001845.6(COL4A1):c.3734G>A (p.Gly1245Asp)

SNV
Germline

Chr13:110170555

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388662232

rs_2501761313

1 SubmittersRCV003704472

NM_001845.6(COL4A1):c.1938C>T (p.Gly646=)

SNV
Germline

Chr13:110183236

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Conflicting Classifications

CA484790182

rs_2085999500

2 SubmittersRCV003715086 RCV005003695

NM_001845.6(COL4A1):c.343G>C (p.Gly115Arg)

SNV
Germline

Chr13:110212461

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388726411

rs_753989899

1 SubmittersRCV003727377

NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)

SNV
Germline

Chr13:110242683

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7048665

rs_753818473

2 SubmittersRCV003737297 RCV005013151

NM_001845.6(COL4A1):c.1720G>A (p.Gly574Ser)

SNV
Germline

Chr13:110187146

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388722863

rs_1443471859

1 SubmittersRCV003733672

NM_001845.6(COL4A1):c.2344+18A>G

SNV
Germline

Chr13:110179253

Conflicting classifications of pathogenicity

Condition: not provided
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Retinal arterial tortuosity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7047634

rs_370939644

2 SubmittersRCV003736195 RCV005013176

NM_001845.6(COL4A1):c.4249+9C>G

SNV
Germline

Chr13:110163454

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

CA7046985

rs_186028417

2 SubmittersRCV003815859 RCV005003722

NM_001845.6(COL4A1):c.2618G>A (p.Gly873Glu)

SNV
Germline

Chr13:110178072

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388667727

rs_2501780114

1 SubmittersRCV003831233

NM_001845.6(COL4A1):c.2584C>G (p.Leu862Val)

SNV
Germline

Chr13:110178106

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA256255495

rs_975712950

2 SubmittersRCV003847711 RCV005545129

NM_001845.6(COL4A1):c.1466-7A>C

SNV
Germline

Chr13:110192291

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7047914

rs_772338095

2 SubmittersRCV003855546 RCV005240967

NM_001845.6(COL4A1):c.1346G>C (p.Gly449Ala)

SNV
Germline

Chr13:110195058

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA7047984

rs_776216712

1 SubmittersRCV003879511

NM_001845.6(COL4A1):c.3158G>T (p.Gly1053Val)

SNV
Germline

Chr13:110175258

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388665488

rs_768591241

1 SubmittersRCV003887804

NM_001845.6(COL4A1):c.1536+1G>A

SNV
Germline

Chr13:110192213

Likely pathogenic

COL4A1-related disorder

No Assertion Criteria Provided

CA388723312

rs_2501538404

1 SubmittersRCV004542630

NM_001845.6(COL4A1):c.2869G>T (p.Gly957Ter)

SNV
Germline

Chr13:110176885

Likely pathogenic

COL4A1-related disorder

No Assertion Criteria Provided

CA388666670

rs_2139162955

1 SubmittersRCV004542652

NM_001845.6(COL4A1):c.1996C>T (p.Arg666Ter)

SNV
Germline

Chr13:110183092

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Retinal arterial tortuosity

Criteria Provided
Multiple Submitters
No Conflicts

CA388722288

rs_2501791888

2 SubmittersRCV003984909 RCV005003746

NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)

SNV
Germline

Chr13:110163480

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

CA388659214

rs_2501741449

1 SubmittersRCV003988706

NM_001845.6(COL4A1):c.2218G>A (p.Gly740Arg)

SNV
Germline

Chr13:110179397

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Brain small vessel disease 1 with or without ocular anomalies
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388668775

rs_2501783763

2 SubmittersRCV003991094 RCV005937390

NM_001845.6(COL4A1):c.3325+1G>A

SNV
Germline

Chr13:110174622

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388664496

rs_2501770861

1 SubmittersRCV003991357

NM_001845.6(COL4A1):c.2546G>A (p.Gly849Glu)

SNV
Germline

Chr13:110178144

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388667869

rs_2501780336

1 SubmittersRCV004437399

NM_001845.6(COL4A1):c.3743-1G>A

SNV
Germline

Chr13:110169763

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388662109

rs_2501757966

1 SubmittersRCV004437401

NM_001845.6(COL4A1):c.3674G>T (p.Gly1225Val)

SNV
Germline

Chr13:110170615

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388662452

rs_1555302454

1 SubmittersRCV004545953

NM_001845.6(COL4A1):c.2167G>A (p.Gly723Arg)

SNV
Germline

Chr13:110181318

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

CA388668890

rs_2501787905

1 SubmittersRCV004555327

NM_001845.6(COL4A1):c.1111G>A (p.Gly371Arg)

SNV
Germline

Chr13:110200863

Conflicting classifications of pathogenicity

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1386813633

2 SubmittersRCV004556960 RCV005100832

NM_001845.6(COL4A1):c.4178G>A (p.Gly1393Glu)

SNV
Germline

Chr13:110163534

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

rs_2501741661

1 SubmittersRCV004577206

NM_001845.6(COL4A1):c.2185G>A (p.Gly729Ser)

SNV
Germline

Chr13:110181300

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1594555106

1 SubmittersRCV004590609

NM_001845.6(COL4A1):c.280-2A>G

SNV
Germline

Chr13:110212620

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004599047

NM_001845.6(COL4A1):c.3601G>C (p.Gly1201Arg)

SNV
Germline

Chr13:110170688

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004696804

NM_001845.6(COL4A1):c.2776A>T (p.Lys926Ter)

SNV
Germline

Chr13:110176978

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004696805

NM_001845.6(COL4A1):c.2716+1G>A

SNV
Germline

Chr13:110177841

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004696806

NM_001845.6(COL4A1):c.4133G>A (p.Gly1378Asp)

SNV
Germline

Chr13:110164879

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004729211

NM_001845.6(COL4A1):c.3298G>A (p.Gly1100Arg)

SNV
Germline

Chr13:110174650

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004767994

NM_001845.6(COL4A1):c.2707G>C (p.Gly903Arg)

SNV
Germline

Chr13:110177851

Pathogenic

COL4A1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV004789980

NM_001845.6(COL4A1):c.3103G>A (p.Gly1035Ser)

SNV
Germline

Chr13:110175313

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004792259

NM_001845.6(COL4A1):c.3665G>A (p.Gly1222Glu)

SNV
Germline

Chr13:110170624

Conflicting classifications of pathogenicity

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hemorrhage, intracerebral, susceptibility to
Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004795691 RCV005603880

NM_001845.6(COL4A1):c.2027G>A (p.Gly676Asp)

SNV
Germline

Chr13:110183061

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004811386

NM_001845.6(COL4A1):c.4286G>T (p.Gly1429Val)

SNV
Germline

Chr13:110162406

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013339

NM_001845.6(COL4A1):c.4187G>A (p.Gly1396Asp)

SNV
Germline

Chr13:110163525

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013340

NM_001845.6(COL4A1):c.4163T>A (p.Leu1388Ter)

SNV
Germline

Chr13:110163549

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005005539

NM_001845.6(COL4A1):c.3991C>T (p.Gln1331Ter)

SNV
Germline

Chr13:110166262

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013343

NM_001845.6(COL4A1):c.3778G>A (p.Gly1260Arg)

SNV
Germline

Chr13:110169727

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005005544

NM_001845.6(COL4A1):c.2987G>A (p.Gly996Asp)

SNV
Germline

Chr13:110176495

Pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013350

NM_001845.6(COL4A1):c.2593C>T (p.Gln865Ter)

SNV
Germline

Chr13:110178097

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005005555

NM_001845.6(COL4A1):c.2182C>T (p.Gln728Ter)

SNV
Germline

Chr13:110181303

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013352

NM_001845.6(COL4A1):c.2132G>C (p.Gly711Ala)

SNV
Germline

Chr13:110181353

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005005562

NM_001845.6(COL4A1):c.1720G>C (p.Gly574Arg)

SNV
Germline

Chr13:110187146

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005005567

NM_001845.6(COL4A1):c.1484G>A (p.Gly495Glu)

SNV
Germline

Chr13:110192266

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013360

NM_001845.6(COL4A1):c.1456G>A (p.Gly486Arg)

SNV
Germline

Chr13:110192839

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013361

NM_001845.6(COL4A1):c.1373G>T (p.Gly458Val)

SNV
Germline

Chr13:110195031

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005005569

NM_001845.6(COL4A1):c.1067G>C (p.Gly356Ala)

SNV
Germline

Chr13:110201455

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005005573

NM_001845.6(COL4A1):c.958-1G>C

SNV
Germline

Chr13:110203608

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013365

NM_001845.6(COL4A1):c.868G>T (p.Gly290Ter)

SNV
Germline

Chr13:110205529

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005013367

NM_001845.6(COL4A1):c.807+1G>A

SNV
Germline

Chr13:110206864

Likely pathogenic

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Hemorrhage, intracerebral, susceptibility to

Criteria Provided
Single Submitter

1 SubmittersRCV005005575

NM_001845.6(COL4A1):c.84+13C>T

SNV
Germline

Chr13:110306931

Conflicting classifications of pathogenicity

Retinal arterial tortuosity
Brain small vessel disease 1 with or without ocular anomalies
Hemorrhage, intracerebral, susceptibility to
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005005583 RCV005112571

NM_001845.6(COL4A1):c.3869G>A (p.Gly1290Asp)

SNV
Germline

Chr13:110169636

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005073519

NM_001845.6(COL4A1):c.1144G>A (p.Gly382Ser)

SNV
Germline

Chr13:110198608

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005071166

NM_001845.6(COL4A1):c.3742+1G>C

SNV
Germline

Chr13:110170546

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005121223

NM_001845.6(COL4A1):c.2797G>C (p.Gly933Arg)

SNV
Germline

Chr13:110176957

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005128991

NM_001845.6(COL4A1):c.3244G>A (p.Gly1082Arg)

SNV
Germline

Chr13:110174704

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005116601

NM_001845.6(COL4A1):c.2485G>A (p.Gly829Ser)

SNV
Germline

Chr13:110178205

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005130060

NM_001845.6(COL4A1):c.3506-1G>A

SNV
Germline

Chr13:110172771

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005128345

NM_001845.6(COL4A1):c.4721G>A (p.Trp1574Ter)

SNV
Germline

Chr13:110155317

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005126276

NM_001845.6(COL4A1):c.123C>A (p.Cys41Ter)

SNV
Germline

Chr13:110242696

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005126653

NM_001845.6(COL4A1):c.182G>C (p.Gly61Ala)

SNV
Germline

Chr13:110213978

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005126689

NM_001845.6(COL4A1):c.3004G>A (p.Gly1002Ser)

SNV
Germline

Chr13:110176478

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005137988

NM_001845.6(COL4A1):c.1685G>C (p.Gly562Ala)

SNV
Germline

Chr13:110187181

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005144192

NM_001845.6(COL4A1):c.1792G>A (p.Gly598Ser)

SNV
Germline

Chr13:110186490

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005135535

NM_001845.6(COL4A1):c.3415G>A (p.Gly1139Arg)

SNV
Germline

Chr13:110173990

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005157350

NM_001845.6(COL4A1):c.217G>A (p.Gly73Arg)

SNV
Germline

Chr13:110213943

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005173375

NM_001845.6(COL4A1):c.1457G>A (p.Gly486Glu)

SNV
Germline

Chr13:110192838

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005164772

NM_001845.6(COL4A1):c.2372G>C (p.Gly791Ala)

SNV
Germline

Chr13:110179009

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005168505

NM_001845.6(COL4A1):c.1355G>A (p.Gly452Glu)

SNV
Germline

Chr13:110195049

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005187063

NM_001845.6(COL4A1):c.3958G>A (p.Gly1320Ser)

SNV
Germline

Chr13:110166295

Likely pathogenic

Condition: not provided
COL4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005194888 RCV005862561

NM_001845.6(COL4A1):c.1084+1G>T

SNV
Germline

Chr13:110201437

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005197165

NM_001845.6(COL4A1):c.1784G>A (p.Gly595Asp)

SNV
Germline

Chr13:110186498

Likely pathogenic

COL4A1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005233359

NM_001845.6(COL4A1):c.772G>T (p.Gly258Ter)

SNV
Germline

Chr13:110207411

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV005247935

NM_001845.6(COL4A1):c.2698G>A (p.Gly900Arg)

SNV
Germline

Chr13:110177860

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV005252619

NM_001845.6(COL4A1):c.2596C>T (p.Gln866Ter)

SNV
Germline

Chr13:110178094

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV005317220

NM_001845.6(COL4A1):c.3110C>T (p.Pro1037Leu)

SNV
Unknown

Chr13:110175306

Likely pathogenic

Hemorrhage, intracerebral, susceptibility to

No Assertion Criteria Provided

1 SubmittersRCV006250125

NM_001845.6(COL4A1):c.1186C>T (p.Arg396Ter)

SNV
Germline

Chr13:110198566

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005414218

NM_001845.6(COL4A1):c.226G>A (p.Gly76Arg)

SNV
Germline

Chr13:110213934

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV005420496

NM_001845.6(COL4A1):c.3556+1G>C

SNV
Germline

Chr13:110172719

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005620577

NM_001845.6(COL4A1):c.3253G>A (p.Gly1085Arg)

SNV
Germline

Chr13:110174695

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV005623257

NM_001845.6(COL4A1):c.1582G>C (p.Gly528Arg)

SNV
Germline

Chr13:110187284

Likely pathogenic

Metabolic disease

Criteria Provided
Single Submitter

1 SubmittersRCV005625097

NM_001845.6(COL4A1):c.2149G>T (p.Gly717Ter)

SNV
Germline

Chr13:110181336

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005629839

NM_001845.6(COL4A1):c.3859G>T (p.Gly1287Ter)

SNV
Germline

Chr13:110169646

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005629841

NM_001845.6(COL4A1):c.2440G>C (p.Gly814Arg)

SNV
Germline

Chr13:110178941

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV005801306

NM_001845.6(COL4A1):c.1973G>A (p.Gly658Asp)

SNV
Germline

Chr13:110183201

Likely pathogenic

COL4A1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005864011

NM_001845.6(COL4A1):c.2923G>A (p.Gly975Arg)

SNV
Germline

Chr13:110176671

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV005884301

NM_001845.6(COL4A1):c.3505+2T>C

SNV
Germline

Chr13:110173898

Likely pathogenic

COL4A1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005880935

NM_001845.6(COL4A1):c.3877G>A (p.Gly1293Ser)

SNV
Germline

Chr13:110167230

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV005883128

NM_001845.6(COL4A1):c.3307G>T (p.Gly1103Trp)

SNV
Germline

Chr13:110174641

Likely pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV005938321

NM_001845.6(COL4A1):c.3707G>A (p.Gly1236Glu)

SNV
Germline

Chr13:110170582

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006253087

NM_001845.6(COL4A1):c.2744G>A (p.Gly915Glu)

SNV
Germline

Chr13:110177010

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006253088

NM_001845.6(COL4A1):c.3506G>T (p.Gly1169Val)

SNV
Germline

Chr13:110172770

Likely pathogenic

COL4A1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006257661

NM_001845.6(COL4A1):c.2609G>A (p.Gly870Glu)

SNV
Germline

Chr13:110178081

Pathogenic

Brain small vessel disease 1 with or without ocular anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV006257662

NM_001845.6(COL4A1):c.1675G>A (p.Gly559Ser)

SNV
Germline

Chr13:110187191

Pathogenic

COL4A1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006257663

NM_001845.6(COL4A1):c.1135G>T (p.Gly379Trp)

SNV
Germline

Chr13:110198617

Likely pathogenic

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006457550

NM_001845.6(COL4A1):c.1177A>T (p.Lys393Ter)

SNV
Germline

Chr13:110198575

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006483373

NM_001845.6(COL4A1):c.164G>A (p.Gly55Glu)

SNV
Germline

Chr13:110213996

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006509841

NM_001845.6(COL4A1):c.1728+1G>T

SNV
Germline

Chr13:110187137

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006511299

NM_001845.6(COL4A1):c.2437C>T (p.Gln813Ter)

SNV
Germline

Chr13:110178944

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006520822

NM_001845.6(COL4A1):c.1381G>T (p.Gly461Cys)

SNV
Germline

Chr13:110195023

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006525101

NM_001845.6(COL4A1):c.3217G>C (p.Gly1073Arg)

SNV
Germline

Chr13:110174731

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006540559

NM_001845.6(COL4A1):c.2941G>T (p.Gly981Trp)

SNV
Germline

Chr13:110176653

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006543043

NM_001845.6(COL4A1):c.2486G>A (p.Gly829Asp)

SNV
Germline

Chr13:110178204

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006543049

NM_001845.6(COL4A1):c.2282G>A (p.Gly761Glu)

SNV
Germline

Chr13:110179333

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006543053

NM_001845.6(COL4A1):c.1222G>A (p.Gly408Arg)

SNV
Germline

Chr13:110198530

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006543063

NM_001845.6(COL4A1):c.1163G>T (p.Gly388Val)

SNV
Germline

Chr13:110198589

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006543064

NM_001845.6(COL4A1):c.922G>T (p.Gly308Trp)

SNV
Germline

Chr13:110205388

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006543067

NM_001845.6(COL4A1):c.878G>C (p.Gly293Ala)

SNV
Germline

Chr13:110205519

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006543068

NM_001845.6(COL4A1):c.563G>T (p.Gly188Val)

SNV
Germline

Chr13:110210032

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006543071

NM_001845.6(COL4A1):c.967G>T (p.Gly323Cys)

SNV
Germline

Chr13:110203598

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006620442