Sugi Variant

Sugi Variant/COL4A1

COL4A1 — 2894 ClinVar variants

All ClinVar germline COL4A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1021 flagged for review →

141 Pathogenic · 27 Pathogenic/Likely pathogenic · 243 Likely pathogenic · 159 Conflicting · 217 Benign · 67 Benign/Likely benign · 937 Likely benign · 1103 Uncertain significance

Full COL4A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1021

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 79

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 672

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 672

Predictors split 263

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 263

All COL4A1 variants

Pathogenic 141

  • c.2458+1G>A Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.3742+1G>A Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.4150+1G>A Multiple submitters
  • p.Arg715fs Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1580Ser Multiple submitters Inborn genetic diseases
  • p.Gly601Ser Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly696Ser Multiple submitters COL4A1-related disorder
  • p.Gly743Val Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly755Arg Multiple submitters Inborn genetic diseases
  • p.Gly764Asp Multiple submitters
  • p.Gly829Ser Multiple submitters COL4A1-related disorder
  • p.Leu222Ter Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.144+1G>A Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.1890_1897+77del Single submitter
  • c.2345-2A>G Single submitter
  • c.2458+1G>C Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.2716+1G>A Single submitter
  • c.324+1G>A Single submitter
  • c.3407-2del Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.3505+1G>A Single submitter Inborn genetic diseases
  • c.3506-1G>A Single submitter
  • c.3556+1G>C Single submitter
  • c.3556+1G>T Single submitter
  • c.3556+54_3877-1090del Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.*31G>T Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • c.*32G>T Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Ala650fs Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Arg396Ter Single submitter
  • p.Arg538fs Single submitter
  • p.Asn719fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Cys41Ter Single submitter
  • p.Gln813Ter Single submitter
  • p.Gln866Ter Single submitter Inborn genetic diseases
  • p.Gly1023Arg Single submitter Inborn genetic diseases
  • p.Gly1032Asp Single submitter
  • p.Gly1038Ser Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly1047Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1053Val Single submitter
  • p.Gly1067Arg Single submitter
  • p.Gly1082Glu Single submitter
  • p.Gly1082Val Single submitter porencephaly
  • p.Gly1100Arg Single submitter
  • p.Gly1130fs Single submitter
  • p.Gly1136Cys Single submitter
  • p.Gly1207Glu Single submitter
  • p.Gly1219Ter Single submitter
  • p.Gly1236Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1236Glu Single submitter
  • p.Gly1236Val Single submitter
  • p.Gly1239Arg Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Gly1245Asp Single submitter
  • p.Gly1248Arg Single submitter
  • p.Gly1254Glu Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1266Asp Single submitter
  • p.Gly1290Asp Single submitter
  • p.Gly1326Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1326Val Single submitter
  • p.Gly1329fs Single submitter
  • p.Gly1341fs Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly1344fs Single submitter
  • p.Gly1366_Pro1367insTer Single submitter
  • p.Gly1372Arg Single submitter cerebral palsy
  • p.Gly1378Asp Single submitter
  • p.Gly1470Arg Single submitter
  • p.Gly151Asp Single submitter
  • p.Gly203Val Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly209Ser Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Gly229fs Single submitter
  • p.Gly258Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly308fs Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly452fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly461Cys Single submitter
  • p.Gly498Asp Single submitter
  • p.Gly504fs Single submitter
  • p.Gly513fs Single submitter
  • p.Gly52Asp Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly559Ser Single submitter COL4A1-related disorder
  • p.Gly601Ala Single submitter
  • p.Gly618Ala Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly630Asp Single submitter
  • p.Gly646fs Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly696fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly720Asp Single submitter COL4A1-related disorder
  • p.Gly729Ser Single submitter
  • p.Gly749Ser Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly776Val Single submitter
  • p.Gly805Glu Single submitter
  • p.Gly814Arg Single submitter Inborn genetic diseases
  • p.Gly870Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly870Glu Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly873Glu Single submitter
  • p.Gly876Arg Single submitter COL4A1 or COL4A2-related cerebral small vessel disease
  • p.Gly891Asp Single submitter
  • p.Gly894Glu Single submitter
  • p.Gly897Arg Single submitter
  • p.Gly897Val Single submitter
  • p.Gly903Arg Single submitter COL4A1-related disorder
  • p.Gly915Glu Single submitter
  • p.Gly924Asp Single submitter
  • p.Gly948Ser Single submitter Optic nerve hypoplasia
  • p.Gly957Ala Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly957Glu Single submitter
  • p.Gly975Arg Single submitter
  • p.Gly993fs Single submitter
  • p.Gly996Asp Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Lys393Ter Single submitter
  • p.Lys543Ter Single submitter
  • p.Met1_Ala25del Single submitter
  • p.Met707fs Single submitter
  • p.Phe622fs Single submitter
  • p.Phe830fs Single submitter Hematuria
  • p.Pro1526fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Pro648fs Single submitter
  • p.Pro804fs Single submitter
  • p.Pro902fs Single submitter
  • p.Pro977fs Single submitter
  • p.Ser1101fs Single submitter
  • p.Ser300fs Single submitter
  • p.Thr886fs Single submitter
  • p.Thr92fs Single submitter Inborn genetic diseases
  • p.Trp1574Ter Single submitter
  • p.Tyr1629Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.2194-1G>A No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • c.*35C>A No assertion criteria microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Asn1627Lys No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1035Val No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1130Asp No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly121fs No assertion criteria Abnormal cerebral morphology
  • p.Gly1423Arg No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly498Arg No assertion criteria autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly498Val No assertion criteria autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly510Arg No assertion criteria autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly519Arg No assertion criteria autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly525Leu No assertion criteria autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly528Glu No assertion criteria autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly562Glu No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly624Ter No assertion criteria
  • p.Gly708Arg No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly729_Gln730del No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly773Arg No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Met1Leu No assertion criteria brain small vessel disease 1 with or without ocular anomalies

Pathogenic/Likely pathogenic 27

  • c.2458+2T>C Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.388-1G>C Multiple submitters colpocephaly
  • c.4250-1G>A Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.*32G>A Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Arg1063Ter Multiple submitters COL4A1-related disorder
  • p.Arg1516Ter Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Arg968Ter Multiple submitters microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Glu1615Lys Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1014Asp Multiple submitters
  • p.Gly1070Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1103Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1186Ser Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1198Arg Multiple submitters COL4A1 or COL4A2-related cerebral small vessel disease
  • p.Gly1254Arg Multiple submitters
  • p.Gly130Trp Multiple submitters Peters anomaly
  • p.Gly1311Glu Multiple submitters
  • p.Gly501Asp Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly544Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly670Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly699Asp Multiple submitters COL4A1-related disorder
  • p.Gly832Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly879Glu Multiple submitters
  • p.Gly888Arg Multiple submitters COL4A1-related disorder
  • p.Gly930Ser Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly987Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Leu502fs Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Lys757fs Multiple submitters brain small vessel disease 1 with or without ocular anomalies

Likely pathogenic 243

  • c.1085-2A>G Multiple submitters COL4A1-related disorder
  • c.1991-2A>G Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Arg666Ter Multiple submitters microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Gly1085Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1148Val Multiple submitters
  • p.Gly1195Ala Multiple submitters
  • p.Gly1248Glu Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1257Glu Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1284Arg Multiple submitters COL4A1-related disorder
  • p.Gly1290Ser Multiple submitters Autosomal dominant COL4A1-related disorders
  • p.Gly1320Ser Multiple submitters COL4A1-related disorder
  • p.Gly1384Asp Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly179Ala Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly261Ser Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly341Ala Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Gly359Val Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly382Asp Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly577Val Multiple submitters microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Gly598Ser Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly649Arg Multiple submitters
  • p.Gly693Glu Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly740Arg Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly761Val Multiple submitters
  • p.Gly843Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly864Glu Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly903Asp Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly957Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Pro605fs Multiple submitters COL4A1-related disorder
  • p.Ser1161fs Multiple submitters
  • c.1000-2A>G Single submitter
  • c.1084+1G>T Single submitter
  • c.1121-1G>C Single submitter COL4A1-related disorder
  • c.1382-2A>G Single submitter
  • c.1728+1G>T Single submitter
  • c.1728+2T>C Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.1971_1990+24del Single submitter
  • c.2345-2A>T Single submitter COL4A1-related disorder
  • c.235-1G>C Single submitter retinal disorder
  • c.2717-1G>A Single submitter
  • c.280-2A>G Single submitter
  • c.2968+1G>A Single submitter
  • c.3325+1G>A Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.3505+2T>C Single submitter COL4A1-related disorder
  • c.3742+1G>C Single submitter
  • c.3742+1G>T Single submitter
  • c.3743-1G>A Single submitter Inborn genetic diseases
  • c.388-2del Single submitter
  • c.4021+2T>C Single submitter
  • c.4022-1G>A Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.4246_4249+7del Single submitter COL4A1-related disorder
  • c.4250-2A>C Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.442-1G>C Single submitter
  • c.469-3_469-2del Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.(4755+1_4756-1 Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.4755+1G>T Single submitter
  • c.(4756+1_4756-1 Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.807+1G>A Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.85-2A>T Single submitter
  • c.903+1G>A Single submitter
  • c.958-1G>C Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Ala847_Gly849del Single submitter
  • p.Asp701Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Asp928fs Single submitter congenital myopathy 2a, typical, autosomal dominant
  • p.Cys1551Tyr Single submitter
  • p.Gln1331Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gln1453Ter Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gln1485Arg Single submitter
  • p.Gln1596fs Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gln57Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gln728Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gln865Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Glu21fs Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Glu487_Ile488insTer Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Gly1002Ser Single submitter
  • p.Gly1011Glu Single submitter Inborn genetic diseases
  • p.Gly1023Ala Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly1035Ser Single submitter
  • p.Gly1073Arg Single submitter
  • p.Gly1079Arg Single submitter
  • p.Gly1079Glu Single submitter
  • p.Gly1082Arg Single submitter
  • p.Gly1088Arg Single submitter
  • p.Gly1100Trp Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1103Glu Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1103Trp Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1124Glu Single submitter
  • p.Gly1127Ser Single submitter
  • p.Gly1133Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1139Arg Single submitter
  • p.Gly1154Asp Single submitter
  • p.Gly115Arg Single submitter
  • p.Gly1166Asp Single submitter
  • p.Gly1166Val Single submitter
  • p.Gly1169Val Single submitter COL4A1-related disorder
  • p.Gly1192Ser Single submitter
  • p.Gly1201Arg Single submitter
  • p.Gly1204Glu Single submitter
  • p.Gly1213Asp Single submitter
  • p.Gly1213Cys Single submitter Autosomal dominant COL4A1-related disorders
  • p.Gly1219Arg Single submitter
  • p.Gly1225Glu Single submitter Inborn genetic diseases
  • p.Gly1225Val Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly1228Val Single submitter
  • p.Gly1260Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1266Arg Single submitter
  • p.Gly1269Glu Single submitter
  • p.Gly1284Glu Single submitter COL4A1-related disorder
  • p.Gly1287Ter Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly1293Ser Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1296Ser Single submitter
  • p.Gly1308Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1317Val Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1332Asp Single submitter
  • p.Gly1350fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1393Glu Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1396Asp Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1411Glu Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1429Val Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1580Arg Single submitter COL4A1-related disorder
  • p.Gly1602Ser Single submitter Autosomal dominant COL4A1-related disorders
  • p.Gly185Ala Single submitter
  • p.Gly185Asp Single submitter
  • p.Gly188Val Single submitter
  • p.Gly197Trp Single submitter
  • p.Gly212Arg Single submitter
  • p.Gly264Asp Single submitter
  • p.Gly290Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly293Ala Single submitter
  • p.Gly299Val Single submitter
  • p.Gly308Trp Single submitter
  • p.Gly323Cys Single submitter
  • p.Gly347Val Single submitter
  • p.Gly356Ala Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly368Asp Single submitter
  • p.Gly379Trp Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly388Val Single submitter
  • p.Gly394Arg Single submitter Inborn genetic diseases
  • p.Gly408Arg Single submitter
  • p.Gly411Arg Single submitter COL4A1-related disorder
  • p.Gly420Arg Single submitter cerebral palsy
  • p.Gly449Ala Single submitter
  • p.Gly452Glu Single submitter
  • p.Gly458Val Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly486Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly486Glu Single submitter
  • p.Gly489Ser Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly495Glu Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly49Asp Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly516Asp Single submitter
  • p.Gly525Arg Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly528Arg Single submitter metabolic disease
  • p.Gly52Val Single submitter
  • p.Gly531Arg Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly550Arg Single submitter
  • p.Gly55Glu Single submitter
  • p.Gly562Ala Single submitter
  • p.Gly574Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly574Ser Single submitter
  • p.Gly574Val Single submitter
  • p.Gly586Cys Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly595Asp Single submitter COL4A1-related disorder
  • p.Gly598del Single submitter
  • p.Gly598Val Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly612Arg Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly61Ala Single submitter
  • p.Gly61Arg Single submitter
  • p.Gly621Asp Single submitter
  • p.Gly621Ser Single submitter COL4A1-related disorder
  • p.Gly630_Leu631insPheProGlyGlyProGlySerProGly Single submitter
  • p.Gly658Asp Single submitter COL4A1-related disorder
  • p.Gly658Val Single submitter COL4A1-related disorder
  • p.Gly664Glu Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly676Asp Single submitter
  • p.Gly679Glu Single submitter
  • p.Gly682Cys Single submitter Autosomal dominant COL4A1-related disorders
  • p.Gly693Arg Single submitter
  • p.Gly705Arg Single submitter
  • p.Gly711Ala Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly717Ter Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly723Arg Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly723Val Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly729Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly746Asp Single submitter COL4A1-related disorder
  • p.Gly755Glu Single submitter
  • p.Gly758Val Single submitter COL4A1-related disorder
  • p.Gly761Glu Single submitter
  • p.Gly764Ser Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly76Ala Single submitter
  • p.Gly76Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly791Ala Single submitter
  • p.Gly805Arg Single submitter
  • p.Gly805fs Single submitter COL4A1-related disorder
  • p.Gly817Arg Single submitter
  • p.Gly817Glu Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly829Asp Single submitter
  • p.Gly829Cys Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly829Val Single submitter COL4A1-related disorder
  • p.Gly849Glu Single submitter Inborn genetic diseases
  • p.Gly861Arg Single submitter
  • p.Gly879Ala Single submitter
  • p.Gly882Cys Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly897Asp Single submitter
  • p.Gly900Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly906Ala Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly918fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly933Arg Single submitter
  • p.Gly948Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly954Ala Single submitter
  • p.Gly960Arg Single submitter
  • p.Gly963Asp Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly981Arg Single submitter
  • p.Gly981Trp Single submitter
  • p.Gly990Val Single submitter
  • p.Gly993Ala Single submitter
  • p.Gly993Ser Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.His1444fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Ile1294fs Single submitter Retinal arteries
  • p.Ile780fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Ile959fs Single submitter COL4A1-related disorder
  • p.Leu1258fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Leu1388Ter Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Lys926Ter Single submitter
  • p.Met1Lys Single submitter
  • p.Pro1280fs Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Pro1349fs Single submitter
  • p.Pro1367fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Pro1645fs Single submitter
  • p.Pro352fs Single submitter
  • p.Pro444fs Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Pro623fs Single submitter COL4A1-related disorder
  • p.Pro775fs Single submitter COL4A1-related disorder
  • c.1536+1G>A No assertion criteria COL4A1-related disorder
  • c.2096-2del No assertion criteria COL4A1-related disorder
  • p.Asp928His No assertion criteria congenital anomaly of kidney and urinary tract ⚠
  • p.Gly326Ser No assertion criteria keratoconus
  • p.Gly397Glu No assertion criteria Seizure
  • p.Gly711Glu No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly761Arg No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly849Arg No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Gly957Ter No assertion criteria COL4A1-related disorder
  • p.Leu1006Phe No assertion criteria brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Lys1185= No assertion criteria brain small vessel disease 1 with or without ocular anomalies
  • p.Pro1037Leu No assertion criteria hemorrhage, intracerebral, susceptibility to ⚠

Conflicting classifications of pathogenicity 159

  • c.1466-1G>C Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • c.1466-6C>T Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.1466-7A>C Single submitter
  • c.1897+7C>G Single submitter proteinuria
  • c.1990+4C>T Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.2095+7C>G Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.234+9G>A Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.2344+11G>A Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.2344+12C>A Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.2344+18A>G Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.2627-1G>A Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • c.2869+6T>C Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.3505+4del Single submitter
  • c.3505+4T>C Single submitter
  • c.3557-14T>C Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.3742+14G>A Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.3877-8G>T Single submitter
  • c.3949+6A>G Single submitter Inborn genetic diseases
  • c.4021+14T>A Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.4150+3G>A Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.4151-10T>C Single submitter
  • c.4249+10G>A Single submitter COL4A1-related disorder
  • c.4249+9C>G Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.4462+3A>G Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.4640+10G>C Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.4640+3G>T Single submitter
  • c.468+4C>G Single submitter
  • c.469-7C>A Single submitter
  • c.4755+3A>G Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.4756-20G>A Single submitter retinal arterial tortuosity
  • c.553-10T>C Single submitter
  • c.616-10T>C Single submitter
  • c.84+13C>T Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.958-5del Single submitter
  • c.-103G>A Single submitter brain small vessel disease 1 with or without ocular anomalies
  • c.-90G>A Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.1330DQG[1] Single submitter
  • p.Ala1197= Single submitter
  • p.Ala144Thr Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Ala1599Val Single submitter Inborn genetic diseases
  • p.Ala15Thr Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Ala325Val Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Ala620Pro Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Arg1238Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1481Gln Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Arg1481Trp Single submitter COL4A1-related disorder ⚠
  • p.Arg1619His Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Arg1661Cys Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Arg315Cys Single submitter ⚠
  • p.Arg396Gln Single submitter intellectual disability ⚠
  • p.Arg476Trp Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Arg585Cys Single submitter COL4A1-related disorder ⚠
  • p.Arg585His Single submitter retinal arterial tortuosity ⚠
  • p.Arg674Ser Single submitter
  • p.Arg715His Single submitter retinal arterial tortuosity ⚠
  • p.Arg715Leu Single submitter ⚠
  • p.Arg968Gln Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Asp1333Asn Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Asp1353Gly Single submitter Inborn genetic diseases ⚠
  • p.Gln1316Glu Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gln515His Single submitter ⚠
  • p.Gln778Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln848Glu Single submitter COL4A1-related disorder ⚠
  • p.Glu20= Single submitter
  • p.Glu584= Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Glu651del Single submitter
  • p.Gly1073Asp Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly1136Ser Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Gly115Ser Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Gly1172Ala Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant ⚠
  • p.Gly1192Arg Single submitter ⚠
  • p.Gly1222Glu Single submitter COL4A1-related disorder ⚠
  • p.Gly1233Glu Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly1275= Single submitter
  • p.Gly1278Ser Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly1302Ala Single submitter ⚠
  • p.Gly1357Trp Single submitter Inborn genetic diseases ⚠
  • p.Gly1366= Single submitter
  • p.Gly1402Ser Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly173Asp Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant ⚠
  • p.Gly203Arg Single submitter ⚠
  • p.Gly212Ser Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly275Arg Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Gly290Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly302Ser Single submitter ⚠
  • p.Gly308Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly332Arg Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly341Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly371Arg Single submitter Autosomal dominant COL4A1-related disorders ⚠
  • p.Gly382Ser Single submitter ⚠
  • p.Gly455= Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Gly46Arg Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly474Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly480Arg Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly553Ser Single submitter Autosomal dominant COL4A1-related disorders ⚠
  • p.Gly568Cys Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant ⚠
  • p.Gly577Arg Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly583Glu Single submitter COL4A1-related disorder ⚠
  • p.Gly58Asp Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Gly607Val Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Gly646= Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Gly690Glu Single submitter ⚠
  • p.Gly73Arg Single submitter ⚠
  • p.Gly852= Single submitter retinal arterial tortuosity
  • p.Ile1057Thr Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Ile110Thr Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Leu862Val Single submitter Inborn genetic diseases ⚠
  • p.Met1092Val Single submitter hemorrhage, intracerebral, susceptibility to ⚠
  • p.Met1212Leu Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Met707Val Single submitter Inborn genetic diseases ⚠
  • p.Met881Val Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Phe1613= Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • p.Phe490= Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Phe535= Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Phe535Leu Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Pro1007Ser Single submitter COL4A1-related disorder ⚠
  • p.Pro1028Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1054Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1055Leu Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro1214Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro123Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro1337Leu Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro1343= Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Pro1346= Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Pro1349Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro1424Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro147= Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Pro1528Leu Single submitter ⚠
  • p.Pro1569Leu Single submitter COL4A1-related disorder ⚠
  • p.Pro352= Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Pro352Leu Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro354Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro3Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro421Ser Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro530Ser Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro54Leu Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro602Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro603Ser Single submitter microangiopathy and leukoencephalopathy, pontine, autosomal dominant ⚠
  • p.Pro613Arg Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro694Ser Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro695Ala Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro709Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro734Arg Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Pro739Leu Single submitter retinal arterial tortuosity ⚠
  • p.Pro754= Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Pro784Leu Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Pro816Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro875Arg Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Pro890Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro902= Single submitter brain small vessel disease 1 with or without ocular anomalies
  • p.Pro902Arg Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro902Ser Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Ser857Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr1144Arg Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Thr81Ala Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Thr854Ala Single submitter Inborn genetic diseases ⚠
  • p.Val1336Ile Single submitter autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Val579Ile Single submitter Inborn genetic diseases ⚠
  • p.Val762Ala Single submitter brain small vessel disease 1 with or without ocular anomalies ⚠

Benign 217

Benign/Likely benign 67

  • c.1000-13C>G Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.1000-5T>G Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.1000-8C>T Multiple submitters COL4A1-related disorder
  • c.1121-18G>A Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.1286-18_1286-17del Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.144+11G>A Multiple submitters
  • c.2096-16del Multiple submitters
  • c.2096-27dup Multiple submitters
  • c.279+20A>T Multiple submitters
  • c.280-12C>T Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.3198+10G>A Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.3325+8del Multiple submitters COL4A1-related disorder
  • c.3326-13dup Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.3506-7C>G Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.387+14C>T Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.3877-8G>A Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.388-11T>C Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.3949+10C>T Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.4151-20T>C Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • c.4250-12C>T Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.4640+8G>A Multiple submitters hemorrhage, intracerebral, susceptibility to
  • c.4755+18C>T Multiple submitters
  • c.4756-14C>T Multiple submitters
  • c.553-8C>T Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.651+4_651+5insCAC Multiple submitters COL4A1-related disorder
  • c.781-12G>A Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.807+3C>T Multiple submitters microangiopathy and leukoencephalopathy, pontine, autosomal dominant
  • c.904-9C>T Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.957+7G>A Multiple submitters hemorrhage, intracerebral, susceptibility to
  • c.958-10T>C Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • c.958-4del Multiple submitters retinal arterial tortuosity
  • c.*975A>C Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Ala1553Val Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome ⚠
  • p.Ala1599= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Ala558Val Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Asp1401= Multiple submitters
  • p.Asp230= Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Asp473= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Asp701= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gln985His Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Glu131= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1332= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly1335= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly498= Multiple submitters COL4A1-related disorder
  • p.Gly627= Multiple submitters retinal arterial tortuosity
  • p.Gly708= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Gly720= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.His165Arg Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Ile454Val Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Leu1258= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Leu1324= Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Leu135= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Lys277= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Met1410Thr Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Pro1096= Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Pro1259Arg Multiple submitters ⚠
  • p.Pro134Leu Multiple submitters vascular dementia
  • p.Pro167= Multiple submitters autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
  • p.Pro304Leu Multiple submitters brain small vessel disease 1 with or without ocular anomalies ⚠
  • p.Pro479= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Pro567= Multiple submitters
  • p.Pro669= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Pro816= Multiple submitters retinal arterial tortuosity
  • p.Pro834= Multiple submitters
  • p.Tyr1352= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Val236= Multiple submitters brain small vessel disease 1 with or without ocular anomalies
  • p.Val883Ile Multiple submitters brain small vessel disease 1 with or without ocular anomalies

Likely benign 937

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 1103

Showing the top 300 by review status; the full set is in the sitemap.