COL4A3 — 3421 ClinVar variants
All ClinVar germline COL4A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 891 flagged for review →
181 Pathogenic · 141 Pathogenic/Likely pathogenic · 574 Likely pathogenic · 296 Conflicting · 167 Benign · 35 Benign/Likely benign · 1196 Likely benign · 831 Uncertain significance
Full COL4A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 891
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 36
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
COL4A3 p.Arg1661His
Pathogenic/Likely pathogenic
Multiple submitters
Alport syndrome
-
COL4A3 p.Gly115Ala
Likely pathogenic
Multiple submitters
Alport syndrome
-
COL4A3 p.Gly1198Ser
Pathogenic/Likely pathogenic
Multiple submitters
Alport syndrome
-
COL4A3 p.Gly1228Ser
Likely pathogenic
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly280Arg
Likely pathogenic
Multiple submitters
hematuria, benign familial, 2
-
COL4A3 p.Gly321Ala
Likely pathogenic
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly421Ser
Likely pathogenic
Multiple submitters
Alport syndrome
-
COL4A3 p.Gly439Ser
Pathogenic/Likely pathogenic
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly526Ser
Likely pathogenic
Multiple submitters
Alport syndrome
-
COL4A3 p.Gly715Ser
Likely pathogenic
Multiple submitters
Alport syndrome
-
COL4A3 p.Gly1077Ala
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly1116Ser
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly1122Ser
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly1140Ser
Likely pathogenic
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Gly1219Ala
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly1310Ala
Likely pathogenic
Single submitter
Alport syndrome
- COL4A3 p.Gly1436Glu Likely pathogenic Single submitter
-
COL4A3 p.Gly151Ser
Likely pathogenic
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly201Ala
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly339Ala
Likely pathogenic
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly439Cys
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly541Asp
Likely pathogenic
Single submitter
COL4A3-related disorder
- COL4A3 p.Gly548Val Likely pathogenic Single submitter
-
COL4A3 p.Gly572Ala
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly631Ala
Likely pathogenic
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly674Ser
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly692Ser
Likely pathogenic
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly756Ala
Likely pathogenic
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly765Ala
Likely pathogenic
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly853Ala
Likely pathogenic
Single submitter
autosomal recessive Alport syndrome
-
COL4A3 p.Gly88Ala
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Gly88Ser
Likely pathogenic
Single submitter
Alport syndrome
-
COL4A3 p.Pro797Leu
Likely pathogenic
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Gly30Arg Likely pathogenic No assertion criteria
-
COL4A3 p.Gly862Ser
Likely pathogenic
No assertion criteria
autosomal dominant Alport syndrome
-
COL4A3 p.Lys960Glu
Likely pathogenic
No assertion criteria
autosomal dominant Alport syndrome
Predictors agree, ClinVar conflicts 184
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 184
-
COL4A3 p.Ala1555Val
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Ala1557Pro
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Ala178Thr
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Ala506Thr
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Ala932Ser
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Ala963Thr
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Arg1159His
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Arg1194Ser
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Arg1215Gln
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Arg1241His
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Arg1432His
Conflicting
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Arg1481Gln Conflicting Single submitter
-
COL4A3 p.Arg1643Lys
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Arg1661Cys
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Arg341His
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Arg368His
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Arg406Gln
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Arg408Cys
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Arg761Lys
Conflicting
Single submitter
Inborn genetic diseases
- COL4A3 p.Asp1193Asn Conflicting Single submitter
-
COL4A3 p.Asp172Asn
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Asp888Asn
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Cys1665Tyr
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gln38Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gln914Lys
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Glu641Asp
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1006Arg
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gly1024Val
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1027Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1039Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1061Asp
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1068Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly106Ala
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1083Arg
Conflicting
Single submitter
autosomal recessive Alport syndrome
-
COL4A3 p.Gly1101Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1131Asp
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly1152Asp
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1158Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly115Arg
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly1164Asp
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1219Val
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly121Val
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1225Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1239Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1239Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1242Asp
Conflicting
Single submitter
Hematuria
-
COL4A3 p.Gly1274Asp
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1286Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1298Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Gly1298Cys Conflicting Single submitter
-
COL4A3 p.Gly1301Asp
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Gly1319Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly133Val
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1367Ala
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1370Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1376Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1385Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1391Ser
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1397Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly139Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1400Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1403Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1403Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly1430Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly148Asp
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly157Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1595Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly174Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly180Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Gly183Val Conflicting Single submitter
-
COL4A3 p.Gly213Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly216Cys
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Gly219Asp
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly219Cys
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly219Val
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly300Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly312Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly318Ser
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly324Asp
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly330Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly333Arg
Conflicting
Single submitter
Alport syndrome
- COL4A3 p.Gly336Asp Conflicting Single submitter
-
COL4A3 p.Gly354Arg
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly366Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly384Arg
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly392Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly401Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly418Arg
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Gly424Cys
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly436Glu
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly449Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly455Val
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly458Arg
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly461Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly46Arg
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gly470Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly484Arg
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Gly493Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly49Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly508Asp
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly514Arg
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Gly551Asp
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly557Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly557Glu
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Gly560Val
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly58Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly596Val
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly611Arg
Conflicting
Single submitter
autosomal recessive Alport syndrome
-
COL4A3 p.Gly622Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly625Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly628Asp
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly64Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly659Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly662Glu
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly671Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly686Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly689Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly727Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly727Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly756Asp
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly76Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly76Val
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gly79Asp
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly833Asp
Conflicting
Single submitter
hematuria, benign familial
-
COL4A3 p.Gly833Ser
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly836Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly842Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly856Val
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly865Ser
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly868Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly877Arg
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly883Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly886Asp
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly904Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly919Val
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly934Arg
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly94Ala
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly955Glu
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly985Val
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly988Arg
Conflicting
Single submitter
Alport syndrome
- COL4A3 p.His1451Asp Conflicting Single submitter
-
COL4A3 p.His1617Asn
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.His495Tyr
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Ile165Thr
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Ile245Thr
Conflicting
Single submitter
Inborn genetic diseases
- COL4A3 p.Ile699Thr Conflicting Single submitter
-
COL4A3 p.Ile900Thr
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Leu1474Pro
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Leu825Phe
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Leu83His
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 550
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 550
-
COL4A3 p.Ala1097Gly
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Ala1252Val
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Ala1555Thr
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Ala367Val
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Ala6Ser Uncertain significance Multiple submitters
-
COL4A3 p.Arg1011His
Uncertain significance
Multiple submitters
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Arg1040Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Arg1159Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Arg1293His
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Arg1345His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Arg1432Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Arg229Gln
Uncertain significance
Multiple submitters
hematuria, benign familial, 2
-
COL4A3 p.Arg229Leu
Uncertain significance
Multiple submitters
hematuria, benign familial
-
COL4A3 p.Arg254Thr
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Arg341Cys
Uncertain significance
Multiple submitters
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Arg368Cys
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Arg444His
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Arg4Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Asp1078Gly
Uncertain significance
Multiple submitters
hematuria, benign familial
-
COL4A3 p.Asp1434Gly
Uncertain significance
Multiple submitters
hematuria, benign familial, 2
-
COL4A3 p.Asp252Glu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Asp466Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Asp600Asn
Uncertain significance
Multiple submitters
Alport syndrome
-
COL4A3 p.Asp998Gly
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Cys682Arg Uncertain significance Multiple submitters
- COL4A3 p.Cys809Gly Uncertain significance Multiple submitters
- COL4A3 p.Gln371Arg Uncertain significance Multiple submitters
-
COL4A3 p.Glu1084Asp
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Glu1084Val Uncertain significance Multiple submitters
- COL4A3 p.Glu345Val Uncertain significance Multiple submitters
-
COL4A3 p.Glu585Lys
Uncertain significance
Multiple submitters
COL4A3-related disorder
-
COL4A3 p.Glu69Ala
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Glu728Asp
Uncertain significance
Multiple submitters
COL4A3-related disorder
-
COL4A3 p.Glu785Asp
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Glu956Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Gly1061Cys
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1110Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Gly1140Asp Uncertain significance Multiple submitters
-
COL4A3 p.Gly118Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Gly118Glu Uncertain significance Multiple submitters
-
COL4A3 p.Gly1328Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Gly1382Val
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1484Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Gly157Cys Uncertain significance Multiple submitters
- COL4A3 p.Gly1593Val Uncertain significance Multiple submitters
-
COL4A3 p.Gly236Arg
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly239Glu
Uncertain significance
Multiple submitters
autosomal recessive Alport syndrome
-
COL4A3 p.Gly312Glu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly602Asp
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly646Glu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Gly671Asp Uncertain significance Multiple submitters
-
COL4A3 p.Gly730Arg
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Gly874Arg Uncertain significance Multiple submitters
-
COL4A3 p.Gly943Arg
Uncertain significance
Multiple submitters
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly943Arg
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.His863Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Ile1220Arg
Uncertain significance
Multiple submitters
Alport syndrome 3b, autosomal recessive
- COL4A3 p.Ile1330Thr Uncertain significance Multiple submitters
-
COL4A3 p.Ile1353Val
Uncertain significance
Multiple submitters
hematuria, benign familial, 2
-
COL4A3 p.Ile1567Ser
Uncertain significance
Multiple submitters
hematuria, benign familial
-
COL4A3 p.Ile1567Thr
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Ile1659Val Uncertain significance Multiple submitters
-
COL4A3 p.Ile223Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Ile95Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Leu1075Arg
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Leu1129Pro
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Leu1174Val
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Leu1356Arg Uncertain significance Multiple submitters
-
COL4A3 p.Leu509Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Leu579Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Leu83Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Leu98Trp Uncertain significance Multiple submitters
- COL4A3 p.Lys1398Gln Uncertain significance Multiple submitters
-
COL4A3 p.Lys29Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Lys78Gln Uncertain significance Multiple submitters
-
COL4A3 p.Met1022Val
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Met1079Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Met1085Arg
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Phe1034Ile
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Phe1199Leu Uncertain significance Multiple submitters
-
COL4A3 p.Pro1014Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro1035Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro1067Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro1090Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro1132His
Uncertain significance
Multiple submitters
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Pro1150Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Pro1235Arg Uncertain significance Multiple submitters
- COL4A3 p.Pro1256Leu Uncertain significance Multiple submitters
-
COL4A3 p.Pro1309Ser
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro1332Arg
Uncertain significance
Multiple submitters
Alport syndrome
-
COL4A3 p.Pro1333Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro1501Gln
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro15Arg
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro176Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro196Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro214His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro275Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Pro359Ala Uncertain significance Multiple submitters
-
COL4A3 p.Pro376Leu
Uncertain significance
Multiple submitters
Alport syndrome 3b, autosomal recessive
- COL4A3 p.Pro380Ser Uncertain significance Multiple submitters
-
COL4A3 p.Pro432Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro483Ser
Uncertain significance
Multiple submitters
hematuria, benign familial, 2
-
COL4A3 p.Pro556Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro598Ala
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro609Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro638Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro657Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Pro658Ala Uncertain significance Multiple submitters
-
COL4A3 p.Pro663Ser
Uncertain significance
Multiple submitters
autosomal recessive Alport syndrome
- COL4A3 p.Pro664Leu Uncertain significance Multiple submitters
-
COL4A3 p.Pro685Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro723Ser
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro752Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro805His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro869Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro905Leu
Uncertain significance
Multiple submitters
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Pro9Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Ser1147Phe
Uncertain significance
Multiple submitters
Stickler syndrome
- COL4A3 p.Ser2Arg Uncertain significance Multiple submitters
-
COL4A3 p.Ser678Tyr
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Ser719Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Ser764Tyr
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Thr1070Ala
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Thr1172Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Thr1440Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Tyr1468Phe Uncertain significance Multiple submitters
-
COL4A3 p.Val122Ala
Uncertain significance
Multiple submitters
autosomal recessive Alport syndrome
-
COL4A3 p.Val1317Met
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Val1476Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Val194Ile
Uncertain significance
Multiple submitters
COL4A3-related disorder
-
COL4A3 p.Val246Met
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Val465Ile
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Val923Ile
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Ala1187Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Ala1252Gly
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Ala1285Thr
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Ala1405Pro Uncertain significance Single submitter
- COL4A3 p.Ala1439Gly Uncertain significance Single submitter
-
COL4A3 p.Ala1439Thr
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Ala1540Val Uncertain significance Single submitter
-
COL4A3 p.Ala1555Glu
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Ala1557Thr
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Ala1599Ser
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Ala169Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Ala24Pro
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Ala289Thr
Uncertain significance
Single submitter
Alport syndrome
- COL4A3 p.Ala367Ser Uncertain significance Single submitter
- COL4A3 p.Ala367Thr Uncertain significance Single submitter
-
COL4A3 p.Ala413Asp
Uncertain significance
Single submitter
Alport syndrome
-
COL4A3 p.Ala413Val
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 121
The independent predictors disagree with each other — read with care.
-
COL4A3 p.Arg1432Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Arg1516Gln
Uncertain significance
Multiple submitters
autosomal recessive Alport syndrome
-
COL4A3 p.Arg229Trp
Uncertain significance
Multiple submitters
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Cys476Ser
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1231Ser
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1573Ser
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1590Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A3 p.Gly239Ala Uncertain significance Multiple submitters
- COL4A3 p.Gly389Ala Uncertain significance Multiple submitters
-
COL4A3 p.Gly446Val
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly619Arg
Pathogenic/Likely pathogenic
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly619Glu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Gly698Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Gly812Ser
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Met1585Val
Uncertain significance
Multiple submitters
hematuria, benign familial, 2
-
COL4A3 p.Pro1076Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Pro147Leu
Uncertain significance
Multiple submitters
kidney disorder
-
COL4A3 p.Pro1554Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro460Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Pro574Leu
Benign
Multiple submitters
Alport syndrome
-
COL4A3 p.Pro794Leu
Uncertain significance
Multiple submitters
Alport syndrome
-
COL4A3 p.Pro879Leu
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Ser1591Phe
Uncertain significance
Multiple submitters
hematuria, benign familial, 2
-
COL4A3 p.Thr1489Ile
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
-
COL4A3 p.Thr1621Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A3 p.Thr1621Met
Uncertain significance
Multiple submitters
autosomal dominant Alport syndrome
- COL4A3 p.Ala1456Pro Uncertain significance Single submitter
-
COL4A3 p.Ala1482Val
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Ala160Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Ala1610Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Arg1345Cys
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Arg1450Gln
Uncertain significance
Single submitter
Alport syndrome
-
COL4A3 p.Arg1547Lys
Uncertain significance
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Arg1609Gln
Conflicting
Single submitter
Alport syndrome
- COL4A3 p.Arg93Trp Uncertain significance Single submitter
-
COL4A3 p.Asn1508Ser
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Cys125Gly
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Cys479Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gln1477Arg
Uncertain significance
Single submitter
Alport syndrome
-
COL4A3 p.Gln1663His
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Glu260Lys
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1009Ala
Conflicting
Single submitter
hematuria, benign familial, 2
-
COL4A3 p.Gly1089Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gly1119Ser
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Gly1204Ser Uncertain significance Single submitter
-
COL4A3 p.Gly121Ser
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gly1245Ser
Conflicting
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Gly1265Asp Uncertain significance Single submitter
- COL4A3 p.Gly1265Val Uncertain significance Single submitter
-
COL4A3 p.Gly1277Ser
Conflicting
Single submitter
Alport syndrome 3b, autosomal recessive
-
COL4A3 p.Gly1292Ala
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1331Ala
Uncertain significance
Single submitter
Alport syndrome 3b, autosomal recessive
- COL4A3 p.Gly1349Asp Uncertain significance Single submitter
-
COL4A3 p.Gly1349Ser
Conflicting
Single submitter
autosomal recessive Alport syndrome
- COL4A3 p.Gly1403Ala Uncertain significance Single submitter
- COL4A3 p.Gly1436Val Uncertain significance Single submitter
-
COL4A3 p.Gly1538Ser
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly1553Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A3 p.Gly1593Ser Uncertain significance Single submitter
-
COL4A3 p.Gly1620Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gly1653Glu
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly198Ser
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly242Glu
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly312Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gly375Ser
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly384Val
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly415Arg
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly436Ala
Conflicting
Single submitter
Inborn genetic diseases
- COL4A3 p.Gly439Val Uncertain significance Single submitter
-
COL4A3 p.Gly43Trp
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly455Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Gly487Ser
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly514Ala
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly532Ser
Conflicting
Single submitter
hematuria, benign familial
-
COL4A3 p.Gly541Ala
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Gly58Ser
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly643Ser
Conflicting
Single submitter
Alport syndrome
-
COL4A3 p.Gly683Glu
Conflicting
Single submitter
Alport syndrome
- COL4A3 p.Gly692Ala Uncertain significance Single submitter
- COL4A3 p.Gly712Ser Uncertain significance Single submitter
-
COL4A3 p.Gly718Ala
Conflicting
Single submitter
autosomal recessive Alport syndrome
- COL4A3 p.Gly730Ala Uncertain significance Single submitter
- COL4A3 p.Gly812Val Uncertain significance Single submitter
-
COL4A3 p.Gly862Ala
Conflicting
Single submitter
COL4A3-related disorder
-
COL4A3 p.Gly979Ser
Conflicting
Single submitter
Alport syndrome
- COL4A3 p.Leu737His Uncertain significance Single submitter
- COL4A3 p.Lys1169Thr Uncertain significance Single submitter
-
COL4A3 p.Lys129Thr
Uncertain significance
Single submitter
Alport syndrome
- COL4A3 p.Lys261Arg Uncertain significance Single submitter
- COL4A3 p.Lys287Asn Uncertain significance Single submitter
-
COL4A3 p.Lys314Thr
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Lys592Gln
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Lys78Glu Uncertain significance Single submitter
-
COL4A3 p.Lys838Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Met1500Val
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Met1666Val
Conflicting
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Phe1475Leu
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Phe1475Ser Uncertain significance Single submitter
-
COL4A3 p.Pro1035Leu
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Pro1088Thr
Uncertain significance
Single submitter
Alport syndrome
-
COL4A3 p.Pro1224Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Pro1461Leu
Conflicting
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Pro1461Thr Uncertain significance Single submitter
-
COL4A3 p.Pro1501Leu
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Pro1543Leu
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
-
COL4A3 p.Pro1571Leu
Uncertain significance
Single submitter
Alport syndrome
- COL4A3 p.Pro237His Uncertain significance Single submitter
- COL4A3 p.Pro238Leu Likely benign Single submitter
-
COL4A3 p.Pro432Leu
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A3 p.Pro435Leu
Uncertain significance
Single submitter
autosomal recessive Alport syndrome
- COL4A3 p.Pro528Leu Uncertain significance Single submitter
- COL4A3 p.Pro57His Uncertain significance Single submitter
-
COL4A3 p.Pro639His
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A3 p.Pro844Leu Uncertain significance Single submitter
-
COL4A3 p.Pro99Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A3 p.Ser1588Thr
Uncertain significance
Single submitter
autosomal dominant Alport syndrome
- COL4A3 p.Thr1499Ala Uncertain significance Single submitter
-
COL4A3 p.Ala1589Thr
Uncertain significance
No assertion criteria
Alport syndrome
-
COL4A3 p.Gln1477His
Uncertain significance
No assertion criteria
Alport syndrome
-
COL4A3 p.Leu1636Phe
Uncertain significance
No assertion criteria
Alport syndrome
-
COL4A3 p.Thr1587Ala
Uncertain significance
No assertion criteria
Alport syndrome
All COL4A3 variants
Pathogenic 181
- c.2746+1G>T Multiple submitters autosomal dominant Alport syndrome
- c.2881+1G>A Multiple submitters COL4A3-related disorder
- c.3210+2T>C Multiple submitters Alport syndrome
- c.888+1G>C Multiple submitters autosomal dominant Alport syndrome
- p.Arg1037Ter Multiple submitters Alport syndrome
- p.Arg1450fs Multiple submitters autosomal dominant Alport syndrome
- p.Arg1450Ter Multiple submitters Alport syndrome
- p.Arg1481Ter Multiple submitters autosomal dominant Alport syndrome
- p.Arg1496Ter Multiple submitters Alport syndrome
- p.Arg1516Ter Multiple submitters autosomal dominant Alport syndrome
- p.Arg1609Ter Multiple submitters Alport syndrome
- p.Arg406Ter Multiple submitters Alport syndrome
- p.Glu131Ter Multiple submitters autosomal recessive Alport syndrome
- p.Glu260fs Multiple submitters focal segmental glomerulosclerosis 7
- p.Gly1155Asp Multiple submitters autosomal dominant Alport syndrome
- p.Gly1207Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly1207Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly1251Ser Multiple submitters Alport syndrome
- p.Gly1289fs Multiple submitters Alport syndrome
- p.Gly1334Glu Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Gly1580Ter Multiple submitters Alport syndrome
- p.Gly1602fs Multiple submitters autosomal dominant Alport syndrome
- p.Gly378fs Multiple submitters
- p.Gly721fs Multiple submitters Alport syndrome
- p.Gly874fs Multiple submitters Alport syndrome
- p.Gly907fs Multiple submitters autosomal dominant Alport syndrome
- p.Gly973fs Multiple submitters Alport syndrome
- p.Leu14_Leu21del Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Leu1474fs Multiple submitters autosomal recessive Alport syndrome
- p.Leu558fs Multiple submitters focal segmental glomerulosclerosis
- p.Lys156fs Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Lys34fs Multiple submitters autosomal dominant Alport syndrome
- p.Pro116fs Multiple submitters COL4A3-related disorder
- p.Pro238fs Multiple submitters COL4A3-related disorder
- p.Ser386fs Multiple submitters
- p.Tyr117Ter Multiple submitters autosomal recessive Alport syndrome
- p.Tyr481Ter Multiple submitters
- p.Val923fs Multiple submitters Inborn genetic diseases
- c.1030-1G>C Single submitter Alport syndrome 3b, autosomal recessive
- c.1114+1del Single submitter Alport syndrome 3b, autosomal recessive
- c.(1504+1_1505-1 Single submitter Alport syndrome 3b, autosomal recessive
- c.2021-1G>A Single submitter autosomal dominant Alport syndrome
- c.2021-4_2025del Single submitter autosomal dominant Alport syndrome
- c.2382_2503del Single submitter autosomal dominant Alport syndrome
- c.2657-1G>C Single submitter autosomal dominant Alport syndrome
- c.2746+1G>C Single submitter autosomal dominant Alport syndrome
- c.2747-1G>T Single submitter autosomal recessive Alport syndrome
- c.(2881+1_2882-1 Single submitter hematuria, benign familial, 2
- c.2980+2T>G Single submitter autosomal dominant Alport syndrome
- c.(3210+1_3211-1 Single submitter autosomal dominant Alport syndrome
- c.3211-2A>C Single submitter
- c.3337+1G>A Single submitter Alport syndrome 3b, autosomal recessive
- c.3517+1del Single submitter
- c.3752-2A>C Single submitter
- c.(3882+1_3883-1 Single submitter Alport syndrome 3b, autosomal recessive
- c.3955+1G>C Single submitter
- c.3955+2T>G Single submitter
- c.4153+1G>A Single submitter Alport syndrome 3b, autosomal recessive
- c.4253-1G>C Single submitter autosomal dominant Alport syndrome
- c.4928+1G>T Single submitter
- c.546+2T>G Single submitter autosomal dominant Alport syndrome
- c.646-2A>C Single submitter autosomal dominant Alport syndrome
- c.687+1G>A Single submitter autosomal dominant Alport syndrome
- c.765+2T>C Single submitter hematuria, benign familial
- c.889-1G>A Single submitter autosomal dominant Alport syndrome
- c.933+1G>A Single submitter
- p.Ala1439fs Single submitter
- p.Ala23fs Single submitter
- p.Ala289fs Single submitter
- p.Arg1640Ter Single submitter
- p.Arg8fs Single submitter
- p.Arg996fs Single submitter autosomal dominant Alport syndrome
- p.Asp1193fs Single submitter
- p.Asp1486fs Single submitter
- p.Cys1493fs Single submitter
- p.Cys1551fs Single submitter
- p.Cys1604Ter Single submitter autosomal recessive Alport syndrome
- p.Gln1050Ter Single submitter autosomal recessive Alport syndrome
- p.Gln1372Ter Single submitter autosomal recessive Alport syndrome
- p.Gln1495Ter Single submitter
- p.Gln371Ter Single submitter autosomal dominant Alport syndrome
- p.Gln531Ter Single submitter
- p.Gln621fs Single submitter
- p.Gln62Ter Single submitter
- p.Glu345Ter Single submitter
- p.Glu352Ter Single submitter
- p.Glu405fs Single submitter
- p.Glu785Ter Single submitter
- p.Gly1030Ter Single submitter
- p.Gly1051fs Single submitter
- p.Gly1061fs Single submitter
- p.Gly1122fs Single submitter
- p.Gly1167Glu Single submitter autosomal dominant Alport syndrome
- p.Gly1180fs Single submitter Alport syndrome 3b, autosomal recessive
- p.Gly1207Val Single submitter autosomal dominant Alport syndrome
- p.Gly1219Cys Single submitter Alport syndrome
- p.Gly124fs Single submitter
- p.Gly124Ter Single submitter
- p.Gly1268fs Single submitter
- p.Gly1331Ter Single submitter
- p.Gly1340fs Single submitter autosomal recessive Alport syndrome
- p.Gly1382fs Single submitter
- p.Gly1406fs Single submitter
- p.Gly1427fs Single submitter Alport syndrome 3b, autosomal recessive
- p.Gly1484Ter Single submitter
- p.Gly297Arg Single submitter autosomal dominant Alport syndrome
- p.Gly300Ter Single submitter
- p.Gly333Ala Single submitter autosomal dominant Alport syndrome
- p.Gly333Glu Single submitter
- p.Gly366Glu Single submitter autosomal recessive Alport syndrome
- p.Gly372fs Single submitter
- p.Gly381Arg Single submitter autosomal dominant Alport syndrome
- p.Gly446fs Single submitter Alport syndrome 3b, autosomal recessive
- p.Gly449Arg Single submitter Alport syndrome
- p.Gly464Val Single submitter
- p.Gly511fs Single submitter
- p.Gly529fs Single submitter
- p.Gly593fs Single submitter
- p.Gly634Ter Single submitter
- p.Gly637fs Single submitter
- p.Gly668fs Single submitter
- p.Gly680fs Single submitter autosomal recessive Alport syndrome
- p.Gly792Ter Single submitter
- p.Gly85Ter Single submitter
- p.Gly877fs Single submitter
- p.Gly928fs Single submitter
- p.Gly970Ter Single submitter
- p.Ile1266fs Single submitter
- p.Ile696fs Single submitter
- p.Leu1032Ter Single submitter Alport syndrome
- p.Leu12fs Single submitter
- p.Leu175Ter Single submitter
- p.Leu509Ter Single submitter Alport syndrome 3b, autosomal recessive
- p.Leu86fs Single submitter
- p.Lys1082Ter Single submitter autosomal dominant Alport syndrome
- p.Lys1321Ter Single submitter hematuria, benign familial, 2
- p.Lys156Ter Single submitter
- p.Lys329= Single submitter autosomal dominant Alport syndrome
- p.Lys45Ter Single submitter
- p.Met323fs Single submitter
- p.Phe202fs Single submitter autosomal dominant Alport syndrome
- p.Pro1005fs Single submitter autosomal dominant Alport syndrome
- p.Pro1109fs Single submitter autosomal dominant Alport syndrome
- p.Pro1181fs Single submitter
- p.Pro1203fs Single submitter
- p.Pro1256fs Single submitter
- p.Pro1378fs Single submitter
- p.Pro1530fs Single submitter
- p.Pro1568fs Single submitter
- p.Pro1647fs Single submitter autosomal dominant Alport syndrome
- p.Pro273fs Single submitter autosomal recessive Alport syndrome
- p.Pro299fs Single submitter
- p.Pro361fs Single submitter
- p.Pro429fs Single submitter
- p.Pro77fs Single submitter
- p.Ser1059Ter Single submitter
- p.Ser126fs Single submitter
- p.Ser1272fs Single submitter autosomal dominant Alport syndrome
- p.Ser1472fs Single submitter
- p.Ser1524Ter Single submitter autosomal recessive Alport syndrome
- p.Ser1626Ter Single submitter
- p.Ser1628_Tyr1629insTer Single submitter
- p.Ser276fs Single submitter
- p.Ser282Ter Single submitter hematuria, benign familial, 1
- p.Ser385Ter Single submitter
- p.Ser402fs Single submitter
- p.Thr1172fs Single submitter
- p.Thr1565fs Single submitter
- p.Thr629fs Single submitter
- p.Trp1522Ter Single submitter autosomal dominant Alport syndrome
- p.Tyr346fs Single submitter
- p.Val1476fs Single submitter
- p.Val1510_Cys1511insTer Single submitter autosomal recessive Alport syndrome
- p.Arg1194fs No assertion criteria autosomal dominant Alport syndrome
- p.Arg814fs No assertion criteria autosomal recessive Alport syndrome
- p.Gly1077Asp No assertion criteria autosomal dominant Alport syndrome
- p.Gly1089Asp No assertion criteria autosomal dominant Alport syndrome
- p.Gly608Arg No assertion criteria Hematuria
- p.Gly868Glu No assertion criteria autosomal dominant Alport syndrome
- p.Pro60fs No assertion criteria Alport syndrome 3b, autosomal recessive
- p.Thr1440fs No assertion criteria autosomal recessive Alport syndrome
Pathogenic/Likely pathogenic 141
- c.1114+2T>C Multiple submitters autosomal dominant Alport syndrome
- c.1408+1G>A Multiple submitters Alport syndrome
- c.1408+1G>C Multiple submitters autosomal dominant Alport syndrome
- c.1408+1G>T Multiple submitters autosomal recessive Alport syndrome
- c.1504+1G>A Multiple submitters Alport syndrome
- c.2656+1G>T Multiple submitters autosomal dominant Alport syndrome
- c.2745_2746+7del Multiple submitters Alport syndrome
- c.2746+1del Multiple submitters COL4A3-related disorder
- c.279+1G>T Multiple submitters autosomal dominant Alport syndrome
- c.2881+1G>T Multiple submitters
- c.2980+1G>A Multiple submitters Alport syndrome
- c.3210+1G>A Multiple submitters Alport syndrome
- c.3211-1G>C Multiple submitters Alport syndrome
- c.3337+1del Multiple submitters hematuria, benign familial
- c.3566-2A>G Multiple submitters Alport syndrome
- c.3882+5G>A Multiple submitters hematuria, benign familial, 2
- c.3883-2067_4311dup Multiple submitters
- c.4755+1G>A Multiple submitters autosomal dominant Alport syndrome
- c.688-1G>A Multiple submitters Alport syndrome 3b, autosomal recessive
- c.689dup Multiple submitters autosomal dominant Alport syndrome
- c.744_765+66del Multiple submitters autosomal dominant Alport syndrome
- c.828+2T>C Multiple submitters Alport syndrome
- c.829-2A>G Multiple submitters Alport syndrome 3b, autosomal recessive
- c.888+1G>A Multiple submitters Alport syndrome
- p.772LPG[1] Multiple submitters
- p.Ala150fs Multiple submitters autosomal dominant Alport syndrome
- p.Arg1040fs Multiple submitters Alport syndrome
- p.Arg1215Ter Multiple submitters hematuria, benign familial, 2
- p.Arg1609fs Multiple submitters autosomal dominant Alport syndrome
- p.Arg1661His Multiple submitters Alport syndrome ⚠
- p.Arg221fs Multiple submitters Alport syndrome
- p.Arg317fs Multiple submitters Alport syndrome
- p.Arg645fs Multiple submitters autosomal dominant Alport syndrome
- p.Arg791Ter Multiple submitters COL4A3-related disorder
- p.Cys1511fs Multiple submitters autosomal dominant Alport syndrome
- p.Cys1548Ter Multiple submitters autosomal dominant Alport syndrome
- p.Cys1616Tyr Multiple submitters Alport syndrome
- p.Gln10Ter Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Gln1453Ter Multiple submitters autosomal dominant Alport syndrome
- p.Gln351Ter Multiple submitters Alport syndrome
- p.Gln670Ter Multiple submitters Alport syndrome
- p.Glu1084Ter Multiple submitters hematuria, benign familial, 2
- p.Glu1607Ter Multiple submitters COL4A3-related disorder
- p.Glu260Ter Multiple submitters Alport syndrome
- p.Glu405Ter Multiple submitters Alport syndrome
- p.Glu539Ter Multiple submitters autosomal recessive Alport syndrome
- p.Glu647fs Multiple submitters Alport syndrome
- p.Glu946fs Multiple submitters autosomal dominant Alport syndrome
- p.Gly1009fs Multiple submitters Alport syndrome
- p.Gly1015Glu Multiple submitters hematuria, benign familial
- p.Gly1045Val Multiple submitters autosomal dominant Alport syndrome
- p.Gly1080Arg Multiple submitters Alport syndrome
- p.Gly112fs Multiple submitters COL4A3-related disorder
- p.Gly1137Asp Multiple submitters Alport syndrome
- p.Gly1152Arg Multiple submitters autosomal recessive Alport syndrome
- p.Gly1167Arg Multiple submitters hematuria, benign familial, 1
- p.Gly1183dup Multiple submitters autosomal dominant Alport syndrome
- p.Gly1189Glu Multiple submitters COL4A3-related disorder
- p.Gly1192Glu Multiple submitters Alport syndrome
- p.Gly1198Asp Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Gly1198Ser Multiple submitters Alport syndrome ⚠
- p.Gly1228Asp Multiple submitters Alport syndrome
- p.Gly1257fs Multiple submitters Alport syndrome
- p.Gly139Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly1403Ter Multiple submitters autosomal recessive Alport syndrome
- p.Gly1412Val Multiple submitters autosomal dominant Alport syndrome
- p.Gly148Val Multiple submitters Alport syndrome
- p.Gly230Asp Multiple submitters Alport syndrome
- p.Gly230Val Multiple submitters Alport syndrome
- p.Gly265Arg Multiple submitters COL4A3-related disorder
- p.Gly336Cys Multiple submitters autosomal dominant Alport syndrome
- p.Gly378Arg Multiple submitters COL4A3-related disorder
- p.Gly395Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly407Arg Multiple submitters Alport syndrome
- p.Gly410Glu Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Gly421fs Multiple submitters hematuria, benign familial
- p.Gly439Ser Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly452Arg Multiple submitters COL4A3-related disorder
- p.Gly458Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly467Arg Multiple submitters Alport syndrome
- p.Gly470fs Multiple submitters autosomal dominant Alport syndrome
- p.Gly532Cys Multiple submitters autosomal dominant Alport syndrome
- p.Gly563Arg Multiple submitters Alport syndrome
- p.Gly575Glu Multiple submitters COL4A3-related disorder
- p.Gly584Cys Multiple submitters Alport syndrome
- p.Gly619Arg Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly631Arg Multiple submitters COL4A3-related disorder
- p.Gly631Val Multiple submitters COL4A3-related disorder
- p.Gly634Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly640Arg Multiple submitters hematuria, benign familial, 2
- p.Gly665fs Multiple submitters autosomal recessive Alport syndrome
- p.Gly695Arg Multiple submitters hematuria, benign familial, 2
- p.Gly709Glu Multiple submitters hematuria, benign familial, 2
- p.Gly709Ter Multiple submitters COL4A3-related disorder
- p.Gly730Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly733Ter Multiple submitters autosomal recessive Alport syndrome
- p.Gly768Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly777Asp Multiple submitters autosomal dominant Alport syndrome
- p.Gly777Val Multiple submitters autosomal dominant Alport syndrome
- p.Gly792Arg Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Gly801Arg Multiple submitters Alport syndrome
- p.Gly807fs Multiple submitters Alport syndrome
- p.Gly818Arg Multiple submitters COL4A3-related disorder
- p.Gly880Ter Multiple submitters Alport syndrome
- p.Gly91Asp Multiple submitters COL4A3-related disorder
- p.Gly934Arg Multiple submitters Alport syndrome
- p.Gly937Glu Multiple submitters hematuria, benign familial, 2
- p.Gly940fs Multiple submitters Alport syndrome
- p.Gly955Arg Multiple submitters Alport syndrome
- p.Gly997Glu Multiple submitters autosomal recessive Alport syndrome
- p.Leu1598Arg Multiple submitters autosomal dominant Alport syndrome
- p.Leu175fs Multiple submitters Alport syndrome
- p.Leu846fs Multiple submitters autosomal dominant Alport syndrome
- p.Lys1082fs Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Lys298fs Multiple submitters autosomal recessive Alport syndrome
- p.Lys48Ter Multiple submitters Alport syndrome
- p.Met1Ile Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Met1Val Multiple submitters Alport syndrome
- p.Met726fs Multiple submitters Alport syndrome
- p.Pro1023fs Multiple submitters autosomal recessive Alport syndrome
- p.Pro1224fs Multiple submitters autosomal dominant Alport syndrome
- p.Pro1250fs Multiple submitters autosomal recessive Alport syndrome
- p.Pro1601fs Multiple submitters Alport syndrome
- p.Pro187fs Multiple submitters autosomal dominant Alport syndrome
- p.Pro240fs Multiple submitters autosomal dominant Alport syndrome
- p.Pro279fs Multiple submitters hematuria, benign familial
- p.Pro370fs Multiple submitters COL4A3-related disorder
- p.Pro394fs Multiple submitters Alport syndrome
- p.Pro607fs Multiple submitters autosomal dominant Alport syndrome
- p.Pro616fs Multiple submitters Alport syndrome
- p.Pro653fs Multiple submitters autosomal dominant Alport syndrome
- p.Pro664fs Multiple submitters
- p.Ser1246Ter Multiple submitters Alport syndrome
- p.Ser1422Ter Multiple submitters hematuria, benign familial, 2
- p.Ser1437fs Multiple submitters Alport syndrome
- p.Ser1492Cys Multiple submitters autosomal recessive Alport syndrome
- p.Ser425Ter Multiple submitters autosomal dominant Alport syndrome
- p.Ser719Ter Multiple submitters Alport syndrome
- p.Ser849Ter Multiple submitters Alport syndrome
- p.Thr255= Multiple submitters autosomal dominant Alport syndrome
- p.Gly174Trp No assertion criteria
Likely pathogenic 574
Showing the top 300 by review status; the full set is in the sitemap.
- c.1114+1G>A Multiple submitters autosomal dominant Alport syndrome
- c.1114+1G>T Multiple submitters Alport syndrome
- c.1143_1150+1del Multiple submitters autosomal dominant Alport syndrome
- c.1505-2A>C Multiple submitters Alport syndrome
- c.1575+2dup Multiple submitters autosomal recessive Alport syndrome
- c.1927+1G>A Multiple submitters Alport syndrome
- c.1927+2T>C Multiple submitters autosomal dominant Alport syndrome
- c.1928-1G>A Multiple submitters
- c.2020+1G>T Multiple submitters Alport syndrome
- c.2223+1G>A Multiple submitters Alport syndrome
- c.2224-2A>G Multiple submitters Alport syndrome
- c.234+1del Multiple submitters autosomal dominant Alport syndrome
- c.234+1G>A Multiple submitters hematuria, benign familial
- c.2375-2A>G Multiple submitters Alport syndrome
- c.2488_2488+2del Multiple submitters COL4A3-related disorder
- c.2489-1G>A Multiple submitters autosomal recessive Alport syndrome
- c.2747-1G>C Multiple submitters Alport syndrome
- c.279+1G>A Multiple submitters autosomal dominant Alport syndrome
- c.2882-2A>G Multiple submitters Alport syndrome
- c.3070+1G>A Multiple submitters autosomal dominant Alport syndrome
- c.3071-1G>A Multiple submitters Alport syndrome
- c.324+1G>A Multiple submitters Alport syndrome
- c.3338-1G>A Multiple submitters autosomal dominant Alport syndrome
- c.3418+1G>T Multiple submitters Alport syndrome
- c.387+1G>A Multiple submitters Alport syndrome
- c.388-1G>T Multiple submitters autosomal dominant Alport syndrome
- c.388-2A>G Multiple submitters COL4A3-related disorder
- c.3956-1G>A Multiple submitters Alport syndrome
- c.4137_4153+1del Multiple submitters Alport syndrome
- c.4253-1G>A Multiple submitters Alport syndrome
- c.441+2T>C Multiple submitters autosomal dominant Alport syndrome
- c.468+1G>T Multiple submitters autosomal dominant Alport syndrome
- c.469-2A>G Multiple submitters COL4A3-related disorder
- c.610-1G>A Multiple submitters autosomal dominant Alport syndrome
- c.610-1G>C Multiple submitters Alport syndrome
- c.829-1G>A Multiple submitters autosomal dominant Alport syndrome
- p.Gln331Ter Multiple submitters Alport syndrome
- p.Gly1003Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly1083Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly1086Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly1092Val Multiple submitters COL4A3-related disorder
- p.Gly1104Ala Multiple submitters autosomal dominant Alport syndrome
- p.Gly1104Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly1137Ser Multiple submitters autosomal dominant Alport syndrome
- p.Gly1143Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly1152Ser Multiple submitters Alport syndrome
- p.Gly1155Ser Multiple submitters autosomal dominant Alport syndrome
- p.Gly115Ala Multiple submitters Alport syndrome ⚠
- p.Gly1228Arg Multiple submitters hematuria, benign familial
- p.Gly1228Ser Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly1228Val Multiple submitters Inborn genetic diseases
- p.Gly1254Arg Multiple submitters Alport syndrome
- p.Gly1257Arg Multiple submitters autosomal recessive Alport syndrome
- p.Gly1322Cys Multiple submitters Alport syndrome
- p.Gly1322Ser Multiple submitters autosomal dominant Alport syndrome
- p.Gly1337Glu Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Gly1418Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly1427Asp Multiple submitters autosomal dominant Alport syndrome
- p.Gly183Cys Multiple submitters autosomal dominant Alport syndrome
- p.Gly201Glu Multiple submitters COL4A3-related disorder
- p.Gly227Glu Multiple submitters Alport syndrome
- p.Gly230Ser Multiple submitters Alport syndrome
- p.Gly265Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly280Arg Multiple submitters hematuria, benign familial, 2 ⚠
- p.Gly291Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly294Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly306Val Multiple submitters autosomal dominant Alport syndrome
- p.Gly315Ser Multiple submitters autosomal dominant Alport syndrome
- p.Gly318Asp Multiple submitters Alport syndrome
- p.Gly321Ala Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly395Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly421Ser Multiple submitters Alport syndrome ⚠
- p.Gly458Val Multiple submitters autosomal dominant Alport syndrome
- p.Gly464Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly487Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly487Cys Multiple submitters COL4A3-related disorder
- p.Gly490Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly520Asp Multiple submitters autosomal dominant Alport syndrome
- p.Gly526Ser Multiple submitters Alport syndrome ⚠
- p.Gly532Asp Multiple submitters Alport syndrome
- p.Gly541Cys Multiple submitters autosomal dominant Alport syndrome
- p.Gly55Arg Multiple submitters Alport syndrome
- p.Gly563Glu Multiple submitters Alport syndrome 3b, autosomal recessive
- p.Gly593Arg Multiple submitters COL4A3-related disorder
- p.Gly605Val Multiple submitters COL4A3-related disorder
- p.Gly637Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly662Arg Multiple submitters Hematuria
- p.Gly668fs Multiple submitters autosomal dominant Alport syndrome
- p.Gly689Arg Multiple submitters hematuria, benign familial, 2
- p.Gly712Val Multiple submitters COL4A3-related disorder
- p.Gly715Ser Multiple submitters Alport syndrome ⚠
- p.Gly736Val Multiple submitters autosomal dominant Alport syndrome
- p.Gly739Arg Multiple submitters COL4A3-related disorder
- p.Gly759Arg Multiple submitters Alport syndrome
- p.Gly783Arg Multiple submitters Alport syndrome
- p.Gly795Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly827Arg Multiple submitters Alport syndrome
- p.Gly874fs Multiple submitters autosomal dominant Alport syndrome
- p.Gly889Val Multiple submitters Alport syndrome
- p.Gly922Arg Multiple submitters Alport syndrome
- p.Gly922Glu Multiple submitters autosomal dominant Alport syndrome
- p.Gly922Val Multiple submitters Alport syndrome
- p.Gly955Val Multiple submitters autosomal dominant Alport syndrome
- p.Gly97Arg Multiple submitters COL4A3-related disorder
- p.Gly985Glu Multiple submitters autosomal dominant Alport syndrome
- p.Thr855fs Multiple submitters COL4A3-related disorder
- p.Tyr1629_Ser1630delinsTer Multiple submitters autosomal dominant Alport syndrome
- c.1029+1G>C Single submitter autosomal dominant Alport syndrome
- c.1029+2T>G Single submitter
- c.1151-1G>A Single submitter autosomal dominant Alport syndrome
- c.1151-2A>C Single submitter Alport syndrome
- c.1315+1G>A Single submitter
- c.1408+2T>A Single submitter autosomal dominant Alport syndrome
- c.144+1G>C Single submitter
- c.145-2A>G Single submitter
- c.1504+2T>C Single submitter Alport syndrome
- c.1505-2A>G Single submitter
- c.1576-1G>A Single submitter
- c.1576-2A>C Single submitter
- c.1758+1G>A Single submitter autosomal dominant Alport syndrome
- c.1758+3del Single submitter autosomal dominant Alport syndrome
- c.1759-1G>A Single submitter
- c.1928-2A>G Single submitter
- c.1928-2A>T Single submitter Alport syndrome
- c.2020+1G>A Single submitter autosomal dominant Alport syndrome
- c.2125+2T>C Single submitter Alport syndrome 3b, autosomal recessive
- c.2126-1G>A Single submitter
- c.2126-1G>C Single submitter autosomal recessive Alport syndrome
- c.2224-1G>C Single submitter hematuria, benign familial, 2
- c.234+1_234+2del Single submitter autosomal dominant Alport syndrome
- c.235-1G>A Single submitter
- c.235-1G>C Single submitter
- c.235-2A>T Single submitter autosomal dominant Alport syndrome
- c.2374+1G>A Single submitter Alport syndrome
- c.2375-11_2384del Single submitter
- c.2375-2A>T Single submitter
- c.2488+1G>T Single submitter
- c.2656+1G>A Single submitter Alport syndrome 3b, autosomal recessive
- c.2656+1G>C Single submitter Inborn genetic diseases
- c.2657-2A>C Single submitter Alport syndrome 3b, autosomal recessive
- c.279+1G>C Single submitter autosomal dominant Alport syndrome
- c.280-1G>A Single submitter autosomal dominant Alport syndrome
- c.2882-1G>A Single submitter Alport syndrome
- c.2882-916_2927del Single submitter
- c.303_324+18del Single submitter autosomal dominant Alport syndrome
- c.3071-1G>T Single submitter
- c.3071-2A>G Single submitter autosomal dominant Alport syndrome
- c.3211-1G>T Single submitter autosomal dominant Alport syndrome
- c.3337+1G>T Single submitter
- c.3419-1G>C Single submitter
- c.3419-2A>C Single submitter autosomal dominant Alport syndrome
- c.3419-2A>G Single submitter
- c.3419-5_3424del Single submitter
- c.3490G>T Single submitter Alport syndrome 3b, autosomal recessive
- c.3517+1G>A Single submitter
- c.3517+1G>T Single submitter autosomal dominant Alport syndrome
- c.3518-2A>G Single submitter
- c.3565+1del Single submitter
- c.3565+1G>A Single submitter
- c.3566-2A>T Single submitter Alport syndrome
- c.3751+1G>A Single submitter autosomal recessive Alport syndrome
- c.3752-2A>G Single submitter
- c.388-6_396delinsCT Single submitter Alport syndrome
- c.3882+5G>C Single submitter autosomal dominant Alport syndrome
- c.3883-1G>A Single submitter
- c.3883-2A>G Single submitter autosomal recessive Alport syndrome
- c.4027+1del Single submitter autosomal dominant Alport syndrome
- c.4027+1G>C Single submitter autosomal recessive Alport syndrome
- c.4028-27A>G Single submitter
- c.4028-2A>C Single submitter autosomal dominant Alport syndrome
- c.4028-2A>G Single submitter autosomal dominant Alport syndrome
- c.4253-18_4283del Single submitter
- c.442-2A>G Single submitter
- c.4640_4640+11del Single submitter
- c.4640+1G>A Single submitter autosomal recessive Alport syndrome
- c.468+1del Single submitter autosomal dominant Alport syndrome
- c.4929-2A>C Single submitter Alport syndrome
- c.4929-2A>G Single submitter Alport syndrome
- c.4929-388G>T Single submitter autosomal recessive Alport syndrome
- c.547-1G>T Single submitter
- c.547-2A>G Single submitter
- c.609+2_609+3del Single submitter
- c.609+2T>G Single submitter autosomal dominant Alport syndrome
- c.645+2T>C Single submitter autosomal recessive Alport syndrome
- c.766-2A>G Single submitter
- c.766-2A>T Single submitter autosomal dominant Alport syndrome
- c.828+1G>C Single submitter
- c.829-2A>C Single submitter autosomal recessive Alport syndrome
- c.829-6_833del Single submitter autosomal dominant Alport syndrome
- c.830dup Single submitter Alport syndrome
- c.87+1G>A Single submitter
- c.88-5976_195del Single submitter
- c.(888+1_889-1 Single submitter autosomal dominant Alport syndrome
- c.888+37_988-377del Single submitter
- c.889-1G>C Single submitter Alport syndrome
- c.889-2A>G Single submitter COL4A3-related disorder
- c.987+1G>T Single submitter autosomal dominant Alport syndrome
- c.987+2T>G Single submitter Inborn genetic diseases
- c.988-5_988delinsAT Single submitter autosomal dominant Alport syndrome
- p.603SPG[1] Single submitter hematuria, benign familial, 2
- p.981KGL[1] Single submitter Alport syndrome
- p.Ala816fs Single submitter autosomal recessive Alport syndrome
- p.Ala990_Pro995del Single submitter Alport syndrome
- p.Arg1306fs Single submitter autosomal recessive Alport syndrome
- p.Arg1539Ter Single submitter autosomal recessive Alport syndrome
- p.Arg1640fs Single submitter Hematuria
- p.Arg1661Pro Single submitter
- p.Arg365fs Single submitter Autosomal semidominant COL4A3-related disorders
- p.Arg503Ter Single submitter autosomal recessive Alport syndrome
- p.Arg848_Pro852del Single submitter Alport syndrome
- p.Arg873Ter Single submitter autosomal recessive Alport syndrome
- p.Arg93fs Single submitter autosomal dominant Alport syndrome
- p.Asn1184fs Single submitter Alport syndrome 3b, autosomal recessive
- p.Asn1323fs Single submitter autosomal recessive Alport syndrome
- p.Asp1566Ter Single submitter Alport syndrome
- p.Asp348fs Single submitter autosomal recessive Alport syndrome
- p.Asp555fs Single submitter autosomal recessive Alport syndrome
- p.Cys1505Ter Single submitter autosomal recessive Alport syndrome
- p.Cys1548fs Single submitter Alport syndrome
- p.Cys1570Ter Single submitter autosomal recessive Alport syndrome
- p.Cys1665Ser Single submitter
- p.Cys31fs Single submitter Alport syndrome
- p.Cys41_Asp42delinsTer Single submitter autosomal dominant Alport syndrome
- p.Gln1157Ter Single submitter COL4A3-related disorder
- p.Gln1188fs Single submitter autosomal recessive Alport syndrome
- p.Gln1477Ter Single submitter autosomal recessive Alport syndrome
- p.Gln1596fs Single submitter Alport syndrome 3b, autosomal recessive
- p.Gln549Ter Single submitter autosomal recessive Alport syndrome
- p.Gln561fs Single submitter autosomal recessive Alport syndrome
- p.Gln627fs Single submitter autosomal recessive Alport syndrome
- p.Gln864fs Single submitter autosomal recessive Alport syndrome
- p.Gln864Ter Single submitter autosomal recessive Alport syndrome
- p.Glu1542fs Single submitter autosomal recessive Alport syndrome
- p.Glu269fs Single submitter autosomal recessive Alport syndrome
- p.Glu356Ter Single submitter autosomal recessive Alport syndrome
- p.Glu585fs Single submitter autosomal dominant Alport syndrome
- p.Glu693fs Single submitter autosomal recessive Alport syndrome
- p.Gly1009Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1009Arg Single submitter COL4A3-related disorder
- p.Gly1009Val Single submitter autosomal dominant Alport syndrome
- p.Gly1012Asp Single submitter autosomal dominant Alport syndrome
- p.Gly1012Val Single submitter autosomal dominant Alport syndrome
- p.Gly1018Val Single submitter autosomal dominant Alport syndrome
- p.Gly1021Ser Single submitter autosomal dominant Alport syndrome
- p.Gly1027Ala Single submitter Alport syndrome
- p.Gly1027Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1030Glu Single submitter autosomal dominant Alport syndrome
- p.Gly1033Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1033Ter Single submitter Alport syndrome
- p.Gly1036Ser Single submitter autosomal dominant Alport syndrome
- p.Gly103Asp Single submitter autosomal dominant Alport syndrome
- p.Gly1045Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1054Arg Single submitter Alport syndrome
- p.Gly1068Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1068Ter Single submitter autosomal dominant Alport syndrome
- p.Gly106Val Single submitter autosomal dominant Alport syndrome
- p.Gly1071Ala Single submitter autosomal recessive Alport syndrome
- p.Gly1077Ala Single submitter Alport syndrome ⚠
- p.Gly1080Ala Single submitter Alport syndrome
- p.Gly1080Glu Single submitter Alport syndrome
- p.Gly1086Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1092Arg Single submitter Alport syndrome
- p.Gly1092Glu Single submitter autosomal dominant Alport syndrome
- p.Gly1095Arg Single submitter Alport syndrome
- p.Gly1095Val Single submitter Alport syndrome
- p.Gly1098Ter Single submitter autosomal recessive Alport syndrome
- p.Gly1110fs Single submitter autosomal recessive Alport syndrome
- p.Gly1113Glu Single submitter Alport syndrome
- p.Gly1116Cys Single submitter Alport syndrome
- p.Gly1116Ser Single submitter Alport syndrome ⚠
- p.Gly1122Ser Single submitter Alport syndrome ⚠
- p.Gly1125Ala Single submitter Alport syndrome
- p.Gly1125Ter Single submitter autosomal recessive Alport syndrome
- p.Gly1128Asp Single submitter autosomal dominant Alport syndrome
- p.Gly1128Val Single submitter Alport syndrome
- p.Gly112Ser Single submitter Alport syndrome
- p.Gly1134Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1134Glu Single submitter COL4A3-related disorder
- p.Gly1134Val Single submitter Alport syndrome 3b, autosomal recessive
- p.Gly1137Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1140Arg Single submitter autosomal dominant Alport syndrome
- p.Gly1140Cys Single submitter autosomal dominant Alport syndrome
- p.Gly1140Ser Single submitter hematuria, benign familial, 2 ⚠
- p.Gly1149Val Single submitter autosomal dominant Alport syndrome
- p.Gly1155Asn Single submitter autosomal dominant Alport syndrome
- p.Gly1180Asp Single submitter autosomal dominant Alport syndrome
- p.Gly1183fs Single submitter Alport syndrome 3b, autosomal recessive
- p.Gly1186Arg Single submitter COL4A3-related disorder
- p.Gly1189Ter Single submitter autosomal recessive Alport syndrome
- p.Gly1192Val Single submitter Alport syndrome 3b, autosomal recessive
- p.Gly1195Arg Single submitter Alport syndrome
- p.Gly1198Arg Single submitter Alport syndrome 3b, autosomal recessive
- p.Gly1201Asp Single submitter COL4A3-related disorder
- p.Gly1207Trp Single submitter autosomal dominant Alport syndrome
- p.Gly1213Glu Single submitter autosomal dominant Alport syndrome
- p.Gly1216fs Single submitter autosomal recessive Alport syndrome
- p.Gly1219Ala Single submitter Alport syndrome ⚠
- p.Gly1236fs Single submitter Alport syndrome
- p.Gly1242Ala Single submitter Hematuria
- p.Gly1242Ser Single submitter Hematuria
Conflicting classifications of pathogenicity 296
- c.1115-11T>C Single submitter
- c.1115-1G>A Single submitter
- c.1150+5G>A Single submitter COL4A3-related disorder
- c.1409-3C>T Single submitter
- c.1505-12G>A Single submitter Alport syndrome
- c.1576-6C>T Single submitter Alport syndrome
- c.1928-4T>C Single submitter Alport syndrome
- c.2021-9G>C Single submitter Alport syndrome
- c.2125+13T>C Single submitter Alport syndrome
- c.2489-8G>A Single submitter Alport syndrome
- c.2656+12T>A Single submitter Alport syndrome
- c.2657-1G>A Single submitter Alport syndrome
- c.2657-1G>T Single submitter hematuria, benign familial, 2
- c.2657-6C>T Single submitter
- c.2746+17C>T Single submitter Hematuria
- c.3210+8G>A Single submitter kidney disorder
- c.3337+6G>C Single submitter
- c.3419-8T>G Single submitter Alport syndrome
- c.3566-9T>C Single submitter Alport syndrome
- c.3751+7G>A Single submitter Alport syndrome
- c.388-15T>C Single submitter autosomal dominant Alport syndrome
- c.388-4T>C Single submitter
- c.3882+10G>A Single submitter Inborn genetic diseases
- c.4027+11G>T Single submitter Alport syndrome
- c.4028-15T>C Single submitter autosomal recessive Alport syndrome
- c.4153+10T>C Single submitter Alport syndrome
- c.4253-14T>C Single submitter Alport syndrome
- c.441+5G>T Single submitter Alport syndrome 3b, autosomal recessive
- c.4463-18dup Single submitter
- c.468+9T>C Single submitter Alport syndrome
- c.469-4C>A Single submitter
- c.4756-13A>T Single submitter Alport syndrome
- c.4928+7A>C Single submitter
- c.610-11G>A Single submitter Alport syndrome
- c.687+13C>T Single submitter autosomal dominant Alport syndrome
- c.687+1G>T Single submitter autosomal dominant Alport syndrome
- c.688-8G>T Single submitter Alport syndrome
- c.766-5G>A Single submitter autosomal dominant Alport syndrome
- c.766-6T>G Single submitter
- c.828+9T>C Single submitter Alport syndrome
- c.829-15C>T Single submitter Alport syndrome
- c.87+7G>T Single submitter Alport syndrome
- c.87+8G>C Single submitter
- c.934-6C>A Single submitter Inborn genetic diseases
- c.-10C>T Single submitter Alport syndrome
- c.-13G>C Single submitter Alport syndrome
- c.-26G>T Single submitter Alport syndrome
- p.1105SPG[1] Single submitter COL4A3-related disorder
- p.Ala1482Val Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala1555Val Single submitter hematuria, benign familial, 2 ⚠
- p.Ala1557Pro Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala1559= Single submitter Alport syndrome
- p.Ala178Thr Single submitter Inborn genetic diseases ⚠
- p.Ala506Thr Single submitter Alport syndrome ⚠
- p.Ala932Ser Single submitter Inborn genetic diseases ⚠
- p.Ala963Thr Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Arg1159His Single submitter Alport syndrome ⚠
- p.Arg1194Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1215Gln Single submitter autosomal dominant Alport syndrome ⚠
- p.Arg1241His Single submitter autosomal dominant Alport syndrome ⚠
- p.Arg1345Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1432His Single submitter autosomal dominant Alport syndrome ⚠
- p.Arg1481Gln Single submitter ⚠
- p.Arg1609= Single submitter Alport syndrome
- p.Arg1609Gln Single submitter Alport syndrome ⚠
- p.Arg1643Lys Single submitter autosomal dominant Alport syndrome ⚠
- p.Arg1661Cys Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Arg341His Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Arg368His Single submitter Alport syndrome ⚠
- p.Arg406Gln Single submitter Inborn genetic diseases ⚠
- p.Arg408Cys Single submitter Inborn genetic diseases ⚠
- p.Arg761Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1508Ser Single submitter hematuria, benign familial, 2 ⚠
- p.Asp1193Asn Single submitter ⚠
- p.Asp172= Single submitter Alport syndrome
- p.Asp172Asn Single submitter autosomal dominant Alport syndrome ⚠
- p.Asp888Asn Single submitter Alport syndrome ⚠
- p.Cys1665Tyr Single submitter Alport syndrome ⚠
- p.Gln1050= Single submitter autosomal dominant Alport syndrome
- p.Gln38Glu Single submitter Alport syndrome ⚠
- p.Gln621= Single submitter Alport syndrome
- p.Gln914Lys Single submitter autosomal dominant Alport syndrome ⚠
- p.Glu1462= Single submitter autosomal dominant Alport syndrome
- p.Glu641Asp Single submitter Alport syndrome ⚠
- p.Gly1006Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1009Ala Single submitter hematuria, benign familial, 2 ⚠
- p.Gly1024Val Single submitter Alport syndrome ⚠
- p.Gly1027Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1039Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1061Asp Single submitter Alport syndrome ⚠
- p.Gly1068Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly106Ala Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1083Arg Single submitter autosomal recessive Alport syndrome ⚠
- p.Gly1086= Single submitter Inborn genetic diseases
- p.Gly1101Glu Single submitter Alport syndrome ⚠
- p.Gly1131Asp Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Gly1152Asp Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1158Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly115Arg Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Gly1164Asp Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1219Val Single submitter COL4A3-related disorder ⚠
- p.Gly121Ser Single submitter Inborn genetic diseases ⚠
- p.Gly121Val Single submitter Alport syndrome ⚠
- p.Gly1225Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1239Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1239Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1242Asp Single submitter Hematuria ⚠
- p.Gly1245Ser Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1274Asp Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1277Ser Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Gly1286Arg Single submitter Alport syndrome ⚠
- p.Gly1292Ala Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1298Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1298Cys Single submitter ⚠
- p.Gly1301Asp Single submitter hematuria, benign familial, 2 ⚠
- p.Gly1319Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly133Val Single submitter Alport syndrome ⚠
- p.Gly1349Ser Single submitter autosomal recessive Alport syndrome ⚠
- p.Gly1367Ala Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1370Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1376Arg Single submitter Alport syndrome ⚠
- p.Gly1385Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1391Ser Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1397Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly139Glu Single submitter Alport syndrome ⚠
- p.Gly1400Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1403Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1403Glu Single submitter Alport syndrome ⚠
- p.Gly1409Glu Single submitter Alport syndrome
- p.Gly1430Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly148Asp Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly157Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly1595Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly171= Single submitter Alport syndrome
- p.Gly174Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly180Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly183Val Single submitter ⚠
- p.Gly213Arg Single submitter Alport syndrome ⚠
- p.Gly216Cys Single submitter hematuria, benign familial, 2 ⚠
- p.Gly219Asp Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Gly219Cys Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Gly219Val Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly224= Single submitter
- p.Gly239= Single submitter Alport syndrome
- p.Gly242Glu Single submitter Alport syndrome ⚠
- p.Gly300Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly312Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly318Ser Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly324Asp Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly330Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly333Arg Single submitter Alport syndrome ⚠
- p.Gly336Asp Single submitter ⚠
- p.Gly354Arg Single submitter COL4A3-related disorder ⚠
- p.Gly366Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly375Ser Single submitter Alport syndrome ⚠
- p.Gly378= Single submitter Alport syndrome 3b, autosomal recessive
- p.Gly384Arg Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Gly392Arg Single submitter Alport syndrome ⚠
- p.Gly401Arg Single submitter Alport syndrome ⚠
- p.Gly418Arg Single submitter hematuria, benign familial, 2 ⚠
- p.Gly424Cys Single submitter Alport syndrome ⚠
- p.Gly436Ala Single submitter Inborn genetic diseases ⚠
- p.Gly436Glu Single submitter COL4A3-related disorder ⚠
- p.Gly449Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly455Val Single submitter COL4A3-related disorder ⚠
- p.Gly458Arg Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Gly461Arg Single submitter Alport syndrome ⚠
- p.Gly46Arg Single submitter Inborn genetic diseases ⚠
- p.Gly470Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly484Arg Single submitter hematuria, benign familial, 2 ⚠
- p.Gly487Ser Single submitter Alport syndrome ⚠
- p.Gly493Arg Single submitter Alport syndrome ⚠
- p.Gly49Arg Single submitter Alport syndrome ⚠
- p.Gly505= Single submitter autosomal dominant Alport syndrome
- p.Gly508Asp Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly514Ala Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly514Arg Single submitter hematuria, benign familial, 2 ⚠
- p.Gly532Ser Single submitter hematuria, benign familial ⚠
- p.Gly551Asp Single submitter Alport syndrome ⚠
- p.Gly557Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly557Glu Single submitter hematuria, benign familial, 2 ⚠
- p.Gly560Val Single submitter COL4A3-related disorder ⚠
- p.Gly58Arg Single submitter Alport syndrome ⚠
- p.Gly58Ser Single submitter Alport syndrome ⚠
- p.Gly596Val Single submitter Alport syndrome ⚠
- p.Gly611Arg Single submitter autosomal recessive Alport syndrome ⚠
- p.Gly622Glu Single submitter Alport syndrome ⚠
- p.Gly625Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly628Asp Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Gly643Ser Single submitter Alport syndrome ⚠
- p.Gly64Arg Single submitter Alport syndrome ⚠
- p.Gly659Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly662Glu Single submitter COL4A3-related disorder ⚠
- p.Gly671Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly683Glu Single submitter Alport syndrome ⚠
- p.Gly686Arg Single submitter Alport syndrome ⚠
- p.Gly689Glu Single submitter Alport syndrome ⚠
- p.Gly718Ala Single submitter autosomal recessive Alport syndrome ⚠
- p.Gly727Arg Single submitter Alport syndrome ⚠
- p.Gly727Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly756Asp Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly76Arg Single submitter Alport syndrome ⚠
- p.Gly76Val Single submitter Inborn genetic diseases ⚠
- p.Gly79Asp Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly833Asp Single submitter hematuria, benign familial ⚠
- p.Gly833Ser Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly836Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly842Glu Single submitter Alport syndrome ⚠
- p.Gly856Val Single submitter COL4A3-related disorder ⚠
- p.Gly862Ala Single submitter COL4A3-related disorder ⚠
- p.Gly865Ser Single submitter Alport syndrome ⚠
- p.Gly868Arg Single submitter Alport syndrome ⚠
- p.Gly877Arg Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly883Glu Single submitter Alport syndrome ⚠
- p.Gly886Asp Single submitter Alport syndrome ⚠
- p.Gly904Arg Single submitter Alport syndrome ⚠
- p.Gly919Val Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly934Arg Single submitter Alport syndrome ⚠
- p.Gly94Ala Single submitter Alport syndrome ⚠
- p.Gly955Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Gly973= Single submitter Alport syndrome
- p.Gly979Ser Single submitter Alport syndrome ⚠
- p.Gly985Val Single submitter Alport syndrome ⚠
- p.Gly988Arg Single submitter Alport syndrome ⚠
- p.His1275= Single submitter Alport syndrome
- p.His1451Asp Single submitter ⚠
- p.His1617Asn Single submitter Inborn genetic diseases ⚠
- p.His1670_Ter1671delinsXaa Single submitter COL4A3-related disorder
- p.His1670fs Single submitter autosomal dominant Alport syndrome
- p.His495Tyr Single submitter hematuria, benign familial, 2 ⚠
- p.Ile165Thr Single submitter Alport syndrome ⚠
- p.Ile245Thr Single submitter Inborn genetic diseases ⚠
- p.Ile699Thr Single submitter ⚠
- p.Ile900Thr Single submitter COL4A3-related disorder ⚠
- p.Leu1202= Single submitter autosomal dominant Alport syndrome
- p.Leu1474Pro Single submitter COL4A3-related disorder ⚠
- p.Leu1494= Single submitter Alport syndrome
- p.Leu558= Single submitter Alport syndrome
- p.Leu825Phe Single submitter Alport syndrome ⚠
- p.Leu83His Single submitter Inborn genetic diseases ⚠
- p.Met1020Thr Single submitter Inborn genetic diseases ⚠
- p.Met1085Ile Single submitter Alport syndrome ⚠
- p.Met1666Val Single submitter autosomal dominant Alport syndrome ⚠
- p.Phe1446fs Single submitter Alport syndrome 3b, autosomal recessive
- p.Phe1504Leu Single submitter hematuria, benign familial, 2 ⚠
- p.Phe1631= Single submitter Alport syndrome
- p.Phe190Leu Single submitter autosomal dominant Alport syndrome
- p.Pro1066Ser Single submitter Alport syndrome ⚠
- p.Pro1067Arg Single submitter Inborn genetic diseases ⚠
- p.Pro1076= Single submitter autosomal dominant Alport syndrome
- p.Pro1088= Single submitter
- p.Pro1090= Single submitter Alport syndrome
- p.Pro1109Ser Single submitter kidney disorder ⚠
- p.Pro1197= Single submitter autosomal dominant Alport syndrome
- p.Pro1203= Single submitter autosomal dominant Alport syndrome
- p.Pro1224= Single submitter hematuria, benign familial, 2
- p.Pro1255His Single submitter autosomal dominant Alport syndrome ⚠
- p.Pro1461Leu Single submitter autosomal dominant Alport syndrome ⚠
- p.Pro15_Leu18del Single submitter autosomal dominant Alport syndrome
- p.Pro191= Single submitter Alport syndrome
- p.Pro200= Single submitter
- p.Pro200Leu Single submitter ⚠
- p.Pro290= Single submitter Alport syndrome
- p.Pro432Leu Single submitter Inborn genetic diseases ⚠
- p.Pro437= Single submitter
- p.Pro437Leu Single submitter autosomal dominant Alport syndrome ⚠
- p.Pro546Leu Single submitter autosomal dominant Alport syndrome ⚠
- p.Pro597Leu Single submitter Inborn genetic diseases ⚠
- p.Pro601Leu Single submitter Inborn genetic diseases ⚠
- p.Pro705= Single submitter autosomal recessive Alport syndrome
- p.Pro723Leu Single submitter Inborn genetic diseases ⚠
- p.Pro74Leu Single submitter autosomal dominant Alport syndrome ⚠
- p.Pro755Ser Single submitter autosomal dominant Alport syndrome ⚠
- p.Pro779fs Single submitter Alport syndrome 3b, autosomal recessive
- p.Pro978= Single submitter autosomal dominant Alport syndrome
- p.Pro9Ser Single submitter Inborn genetic diseases ⚠
- p.Ser1422_Gly1424del Single submitter Alport syndrome
- p.Ser1628Ala Single submitter autosomal dominant Alport syndrome ⚠
- p.Ser419Tyr Single submitter autosomal dominant Alport syndrome ⚠
- p.Ser719Pro Single submitter autosomal dominant Alport syndrome ⚠
- p.Thr110Ser Single submitter Inborn genetic diseases ⚠
- p.Thr1238Arg Single submitter COL4A3-related disorder ⚠
- p.Thr140Ile Single submitter autosomal dominant Alport syndrome ⚠
- p.Thr255Met Single submitter autosomal dominant Alport syndrome ⚠
- p.Thr629Met Single submitter Inborn genetic diseases ⚠
- p.Thr835= Single submitter
- p.Thr87Met Single submitter autosomal dominant Alport syndrome ⚠
- p.Trp1522Arg Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Trp1578Arg Single submitter autosomal recessive Alport syndrome ⚠
- p.Tyr347Asn Single submitter autosomal recessive Alport syndrome ⚠
- p.Val1550Gly Single submitter autosomal recessive Alport syndrome ⚠
- p.Val1560Ile Single submitter autosomal dominant Alport syndrome ⚠
- p.Val231Ala Single submitter autosomal dominant Alport syndrome ⚠
- p.Val92Glu Single submitter Alport syndrome 3b, autosomal recessive ⚠
- p.Val92Ile Single submitter autosomal dominant Alport syndrome ⚠
- p.Val950Ile Single submitter ⚠
Benign 167
- c.1114+109A>G Multiple submitters
- c.144+12C>A Multiple submitters Alport syndrome
- c.144+181G>T Multiple submitters
- c.144+182G>A Multiple submitters
- c.1504+100T>C Multiple submitters
- c.1504+108C>A Multiple submitters
- c.1505-11T>C Multiple submitters Alport syndrome
- c.1576-15T>G Multiple submitters Alport syndrome
- c.1576-60G>A Multiple submitters autosomal recessive Alport syndrome
- c.1759-122A>C Multiple submitters
- c.2223+100G>T Multiple submitters autosomal recessive Alport syndrome
- c.2375-66C>T Multiple submitters autosomal recessive Alport syndrome
- c.2488+111G>A Multiple submitters
- c.280-41_280-40insG Multiple submitters
- c.2881+46A>G Multiple submitters autosomal recessive Alport syndrome
- c.2882-73C>T Multiple submitters
- c.2980+131C>T Multiple submitters
- c.3211-109A>C Multiple submitters
- c.324+73C>T Multiple submitters autosomal recessive Alport syndrome
- c.325-246T>C Multiple submitters
- c.325-27C>T Multiple submitters
- c.3338-143T>C Multiple submitters
- c.3419-14T>G Multiple submitters Alport syndrome
- c.3419-39C>T Multiple submitters autosomal recessive Alport syndrome
- c.3419-4del Multiple submitters autosomal recessive Alport syndrome
- c.3419-5_3419-4del Multiple submitters
- c.3751+195A>G Multiple submitters
- c.3883-210G>A Multiple submitters
- c.3883-85C>T Multiple submitters
- c.3955+273C>A Multiple submitters
- c.4154-69C>T Multiple submitters autosomal recessive Alport syndrome
- c.4252+156G>A Multiple submitters
- c.4253-51G>A Multiple submitters autosomal recessive Alport syndrome
- c.441+146G>T Multiple submitters autosomal recessive Alport syndrome
- c.441+150G>T Multiple submitters autosomal recessive Alport syndrome
- c.441+197A>G Multiple submitters
- c.442-102A>G Multiple submitters
- c.442-181C>T Multiple submitters
- c.442-88A>G Multiple submitters autosomal recessive Alport syndrome
- c.4462+443A>G Multiple submitters
- c.468+139C>T Multiple submitters autosomal recessive Alport syndrome
- c.469-143A>T Multiple submitters
- c.469-53G>T Multiple submitters
- c.4755+193G>A Multiple submitters
- c.546+186C>A Multiple submitters
- c.547-9A>C Multiple submitters atypical hemolytic-uremic syndrome
- c.765+49T>G Multiple submitters autosomal recessive Alport syndrome
- c.766-13G>A Multiple submitters Alport syndrome
- c.766-75G>C Multiple submitters
- c.828+20A>G Multiple submitters autosomal recessive Alport syndrome
- c.828+50T>C Multiple submitters
- c.828+59C>G Multiple submitters autosomal recessive Alport syndrome
- c.88-4C>T Multiple submitters Alport syndrome
- c.888+30G>A Multiple submitters autosomal recessive Alport syndrome
- c.987+35T>G Multiple submitters autosomal recessive Alport syndrome
- c.988-88A>G Multiple submitters
- c.*1165G>A Multiple submitters Alport syndrome
- c.*1239C>G Multiple submitters Alport syndrome
- c.*1663G>C Multiple submitters Alport syndrome
- c.*177A>G Multiple submitters Alport syndrome
- c.*2059C>G Multiple submitters Alport syndrome
- c.*2194A>C Multiple submitters Alport syndrome
- c.*2452T>C Multiple submitters Alport syndrome
- c.*2652G>A Multiple submitters Alport syndrome
- c.*2742C>T Multiple submitters Alport syndrome
- c.*286C>T Multiple submitters Alport syndrome
- c.*315A>C Multiple submitters Alport syndrome
- c.*589C>T Multiple submitters Alport syndrome
- c.*595A>T Multiple submitters Alport syndrome
- c.*893C>T Multiple submitters Alport syndrome
- c.*981C>T Multiple submitters Alport syndrome
- p.Arg408His Multiple submitters Alport syndrome
- p.Asp326Tyr Multiple submitters Alport syndrome
- p.Glu162Gly Multiple submitters Alport syndrome
- p.Glu269Lys Multiple submitters Alport syndrome
- p.Gly43Arg Multiple submitters Alport syndrome
- p.Leu141Pro Multiple submitters Alport syndrome
- p.Leu399= Multiple submitters Alport syndrome
- p.Pro574Leu Multiple submitters Alport syndrome ⚠
- c.1029+246T>C Single submitter
- c.1115-211C>G Single submitter
- c.1150+237G>A Single submitter
- c.1150+279G>A Single submitter
- c.1150+302C>T Single submitter
- c.1315+205C>T Single submitter
- c.1315+64G>A Single submitter
- c.1316-227del Single submitter
- c.1409-228G>A Single submitter
- c.144+165del Single submitter
- c.144+165dup Single submitter
- c.144+7del Single submitter
- c.1505-287T>A Single submitter
- c.1576-306A>G Single submitter
- c.1759-308T>A Single submitter
- c.2021-109del Single submitter
- c.2021-110_2021-109del Single submitter
- c.2125+12del Single submitter
- c.2223+11dup Single submitter
- c.2223+221T>C Single submitter
- c.235-20_235-16dup Single submitter
- c.2375-5del Single submitter
- c.2489-220G>A Single submitter
- c.2489-299G>T Single submitter
- c.2489-90_2489-89insT Single submitter
- c.2489-91_2489-90insT Single submitter
- c.279+267A>G Single submitter
- c.280-129G>A Single submitter
- c.280-41_280-40insGT Single submitter
- c.2882-182del Single submitter
- c.2882-182dup Single submitter
- c.2882-183_2882-182dup Single submitter
- c.2980+173A>G Single submitter
- c.2980+192C>A Single submitter
- c.2981-198A>C Single submitter
- c.3071-10del Single submitter
- c.3071-15del Single submitter
- c.3211-158G>T Single submitter
- c.3211-246G>A Single submitter
- c.3211-319T>C Single submitter
- c.324+246C>T Single submitter
- c.324+321dup Single submitter
- c.3337+385T>C Single submitter
- c.3566-110T>G Single submitter
- c.3751+263C>T Single submitter
- c.3752-248G>C Single submitter
- c.3752-324dup Single submitter
- c.3882+310A>G Single submitter
- c.3883-194G>A Single submitter
- c.4153+239del Single submitter
- c.4252+43G>A Single submitter
- c.4253-5dup Single submitter
- c.441+247A>G Single submitter
- c.4463-119T>G Single submitter
- c.469-269G>A Single submitter
- c.4755+145_4755+148del Single submitter
- c.4755+315G>A Single submitter
- c.4756-10del Single submitter
- c.4756-181C>T Single submitter
- c.4756-194C>T Single submitter
- c.4756-67del Single submitter
- c.4928+198C>T Single submitter
- c.4929-145T>G Single submitter
- c.4929-392del Single submitter
- c.4929-8dup Single submitter
- c.610-5dup Single submitter
- c.645+231C>G Single submitter
- c.645+304G>A Single submitter
- c.765+154G>A Single submitter
- c.766-229dup Single submitter
- c.766-232A>G Single submitter
- c.828+95_828+96dup Single submitter
- c.828+96del Single submitter
- c.828+96dup Single submitter
- c.829-212A>G Single submitter
- c.87+24del Single submitter
- c.87+24dup Single submitter
- c.888+220C>G Single submitter
- c.889-122T>C Single submitter
- c.889-311T>G Single submitter
- c.987+148A>C Single submitter
- c.987+295A>C Single submitter
- c.*1681A>G Single submitter Alport syndrome
- c.*1869C>A Single submitter Alport syndrome
- p.Asp1269Glu Single submitter
- p.Lys161Glu Single submitter
- p.Thr87= Single submitter
- p.Tyr143= Single submitter
Benign/Likely benign 35
- c.1030-18G>A Multiple submitters
- c.1115-20T>C Multiple submitters
- c.144+18T>G Multiple submitters
- c.145-99C>T Multiple submitters autosomal recessive Alport syndrome
- c.2021-54T>C Multiple submitters autosomal recessive Alport syndrome
- c.2489-18T>A Multiple submitters autosomal dominant Alport syndrome
- c.280-40T>G Multiple submitters autosomal recessive Alport syndrome
- c.3566-10T>C Multiple submitters Alport syndrome
- c.442-15T>C Multiple submitters hematuria, benign familial
- c.4755+18A>G Multiple submitters autosomal dominant Alport syndrome
- c.687+103T>A Multiple submitters autosomal recessive Alport syndrome
- c.888+17G>A Multiple submitters autosomal dominant Alport syndrome
- c.889-39T>C Multiple submitters autosomal recessive Alport syndrome
- c.933+14T>C Multiple submitters Alport syndrome
- c.987+17T>C Multiple submitters
- c.987+20C>G Multiple submitters
- c.988-80T>C Multiple submitters autosomal recessive Alport syndrome
- p.Ala24Gly Multiple submitters Alport syndrome
- p.Arg1011Cys Multiple submitters Alport syndrome
- p.Asp1347Glu Multiple submitters atypical hemolytic-uremic syndrome
- p.Asp466= Multiple submitters Alport syndrome
- p.Cys1460= Multiple submitters Alport syndrome
- p.Gln1495Arg Multiple submitters kidney disorder
- p.Gly133= Multiple submitters Alport syndrome
- p.Gly484= Multiple submitters hematuria, benign familial
- p.His451= Multiple submitters Alport syndrome
- p.His451Arg Multiple submitters Alport syndrome
- p.Lys834Arg Multiple submitters Alport syndrome
- p.Met1209Ile Multiple submitters kidney disorder
- p.Phe962= Multiple submitters Alport syndrome
- p.Pro116Thr Multiple submitters Alport syndrome
- p.Pro1569= Multiple submitters kidney disorder
- p.Pro25Ser Multiple submitters kidney disorder
- p.Pro74= Multiple submitters Alport syndrome
- p.Pro905= Multiple submitters Alport syndrome
Likely benign 1196
Showing the top 300 by review status; the full set is in the sitemap.
- c.1115-12A>G Multiple submitters autosomal dominant Alport syndrome
- c.1115-48C>T Multiple submitters
- c.1315+18G>A Multiple submitters
- c.1316-19T>C Multiple submitters
- c.1575+12T>C Multiple submitters
- c.2020+18A>C Multiple submitters
- c.2020+18A>G Multiple submitters
- c.2125+14T>A Multiple submitters autosomal dominant Alport syndrome
- c.2374+18A>G Multiple submitters
- c.2375-18T>C Multiple submitters autosomal dominant Alport syndrome
- c.2489-139C>T Multiple submitters
- c.2489-5C>T Multiple submitters autosomal dominant Alport syndrome
- c.2489-9C>T Multiple submitters autosomal dominant Alport syndrome
- c.2656+81G>A Multiple submitters
- c.2657-15A>C Multiple submitters
- c.2657-98A>G Multiple submitters
- c.2746+147C>T Multiple submitters
- c.2746+9T>C Multiple submitters autosomal dominant Alport syndrome
- c.280-10_280-9del Multiple submitters autosomal dominant Alport syndrome
- c.280-13C>T Multiple submitters
- c.3071-19G>A Multiple submitters
- c.3211-13G>C Multiple submitters autosomal dominant Alport syndrome
- c.3211-7A>G Multiple submitters hematuria, benign familial
- c.325-18G>T Multiple submitters autosomal recessive Alport syndrome
- c.325-20G>A Multiple submitters autosomal dominant Alport syndrome
- c.3337+15T>C Multiple submitters autosomal dominant Alport syndrome
- c.3337+17C>T Multiple submitters
- c.3418+18T>C Multiple submitters
- c.3419-19T>G Multiple submitters
- c.3518-42G>A Multiple submitters
- c.3565+9T>G Multiple submitters Alport syndrome
- c.3751+122C>T Multiple submitters
- c.3751+66C>T Multiple submitters
- c.3752-14T>C Multiple submitters
- c.3752-94T>C Multiple submitters
- c.387+17C>T Multiple submitters
- c.388-116C>T Multiple submitters
- c.3882+132T>C Multiple submitters autosomal recessive Alport syndrome
- c.4027+10C>T Multiple submitters
- c.4154-15T>G Multiple submitters
- c.4252+27G>A Multiple submitters
- c.442-63G>C Multiple submitters
- c.4462+457C>T Multiple submitters
- c.468+10T>G Multiple submitters
- c.468+8A>G Multiple submitters autosomal dominant Alport syndrome
- c.4929-17G>A Multiple submitters
- c.547-12C>T Multiple submitters
- c.646-7C>T Multiple submitters
- c.687+11T>C Multiple submitters
- c.687+20T>C Multiple submitters
- c.687+69G>A Multiple submitters
- c.688-11T>C Multiple submitters
- c.688-16G>A Multiple submitters
- c.765+11G>A Multiple submitters
- c.766-7T>C Multiple submitters autosomal dominant Alport syndrome
- c.829-13C>G Multiple submitters
- c.933+9T>C Multiple submitters hematuria, benign familial
- c.934-5T>C Multiple submitters
- c.987+16A>G Multiple submitters
- c.988-6C>T Multiple submitters autosomal dominant Alport syndrome
- p.Ala1166= Multiple submitters hematuria, benign familial
- p.Ala1252= Multiple submitters autosomal dominant Alport syndrome
- p.Ala1597= Multiple submitters
- p.Arg808= Multiple submitters
- p.Asp1287= Multiple submitters
- p.Asp168= Multiple submitters Alport syndrome
- p.Cys1604= Multiple submitters
- p.Cys479= Multiple submitters autosomal dominant Alport syndrome
- p.Gly1061= Multiple submitters
- p.Gly1074= Multiple submitters
- p.Gly1397= Multiple submitters
- p.Gly487= Multiple submitters
- p.Gly625= Multiple submitters autosomal dominant Alport syndrome
- p.Gly680= Multiple submitters autosomal dominant Alport syndrome
- p.Gly792= Multiple submitters
- p.His1483= Multiple submitters autosomal dominant Alport syndrome
- p.His1617= Multiple submitters hematuria, benign familial
- p.His225Gln Multiple submitters Inborn genetic diseases
- p.Ile1264Thr Multiple submitters
- p.Leu1032= Multiple submitters autosomal dominant Alport syndrome
- p.Leu1094= Multiple submitters
- p.Leu322= Multiple submitters autosomal dominant Alport syndrome
- p.Leu648= Multiple submitters autosomal dominant Alport syndrome
- p.Leu980= Multiple submitters
- p.Lys314= Multiple submitters
- p.Pro1044= Multiple submitters autosomal dominant Alport syndrome
- p.Pro1066= Multiple submitters
- p.Pro1115= Multiple submitters Alport syndrome
- p.Pro1230= Multiple submitters autosomal dominant Alport syndrome
- p.Pro135= Multiple submitters Inborn genetic diseases
- p.Pro1438= Multiple submitters autosomal dominant Alport syndrome
- p.Pro1526= Multiple submitters autosomal dominant Alport syndrome
- p.Pro173= Multiple submitters
- p.Pro238= Multiple submitters autosomal dominant Alport syndrome
- p.Pro299= Multiple submitters Inborn genetic diseases
- p.Pro377= Multiple submitters
- p.Pro437= Multiple submitters autosomal dominant Alport syndrome
- p.Pro454= Multiple submitters Alport syndrome
- p.Pro513= Multiple submitters autosomal dominant Alport syndrome
- p.Pro620= Multiple submitters autosomal dominant Alport syndrome
- p.Pro636= Multiple submitters hematuria, benign familial
- p.Pro639= Multiple submitters autosomal dominant Alport syndrome
- p.Pro68= Multiple submitters autosomal dominant Alport syndrome
- p.Pro694= Multiple submitters
- p.Pro74= Multiple submitters autosomal dominant Alport syndrome
- p.Pro844= Multiple submitters
- p.Pro879= Multiple submitters autosomal dominant Alport syndrome
- p.Pro942= Multiple submitters
- p.Pro987= Multiple submitters
- p.Ser1272= Multiple submitters autosomal dominant Alport syndrome
- p.Ser128= Multiple submitters autosomal dominant Alport syndrome
- p.Ser1469= Multiple submitters autosomal recessive Alport syndrome
- p.Thr1498= Multiple submitters Alport syndrome
- p.Thr247= Multiple submitters
- p.Thr629= Multiple submitters Alport syndrome
- p.Thr87= Multiple submitters
- p.Tyr117= Multiple submitters
- p.Val92Leu Multiple submitters hematuria, benign familial
- c.1029+171G>A Single submitter
- c.1029+20A>G Single submitter
- c.1029+9G>A Single submitter
- c.1030-10C>T Single submitter
- c.1030-13T>G Single submitter
- c.1030-54G>A Single submitter
- c.1030-6T>A Single submitter
- c.1030-8C>A Single submitter
- c.1030-8C>T Single submitter
- c.1030-9T>C Single submitter
- c.1030-9T>G Single submitter
- c.1114+12T>C Single submitter
- c.1114+15C>T Single submitter
- c.1114+163T>C Single submitter
- c.1114+20T>C Single submitter
- c.1114+20T>G Single submitter
- c.1114+8T>C Single submitter
- c.1114+8T>G Single submitter
- c.1115-10A>G Single submitter
- c.1115-14T>C Single submitter
- c.1115-15G>C Single submitter
- c.1115-3dup Single submitter
- c.1115-5C>G Single submitter
- c.1115-7T>C Single submitter
- c.1115-9T>C Single submitter
- c.1150+14T>C Single submitter
- c.1150+16T>G Single submitter
- c.1150+19G>A Single submitter
- c.1150+270C>T Single submitter
- c.1151-17T>A Single submitter
- c.1151-5C>T Single submitter
- c.1151-9T>G Single submitter
- c.1315+10T>A Single submitter
- c.1315+13A>G Single submitter
- c.1315+15G>T Single submitter
- c.1315+16G>A Single submitter
- c.1315+17G>A Single submitter
- c.1315+200T>C Single submitter
- c.1315+8_1315+13del Single submitter
- c.1316-10_1316-7del Single submitter
- c.1316-10A>C Single submitter
- c.1316-14_1316-12del Single submitter
- c.1316-15G>A Single submitter
- c.1316-24G>A Single submitter
- c.1316-6T>G Single submitter
- c.1316-7_1316-5dup Single submitter
- c.1316-9T>C Single submitter
- c.1408+16A>G Single submitter
- c.1408+17A>C Single submitter
- c.1408+18T>A Single submitter
- c.1408+18T>C Single submitter
- c.1408+20T>C Single submitter
- c.1408+35C>T Single submitter autosomal recessive Alport syndrome
- c.1408+9A>C Single submitter
- c.1408+9A>G Single submitter
- c.1409-13G>A Single submitter
- c.1409-15A>G Single submitter
- c.1409-191A>G Single submitter
- c.1409-20C>A Single submitter
- c.1409-4G>A Single submitter
- c.1409-6T>C Single submitter
- c.1409-7A>T Single submitter
- c.144+10A>C Single submitter
- c.144+11dup Single submitter
- c.144+14del Single submitter
- c.144+164_144+165dup Single submitter
- c.144+16A>T Single submitter
- c.144+9A>G Single submitter
- c.145-13T>G Single submitter
- c.145-16G>A Single submitter
- c.145-17C>T Single submitter
- c.1504+10del Single submitter
- c.1504+16A>C Single submitter
- c.1504+17T>C Single submitter
- c.1504+17T>G Single submitter
- c.1504+20A>G Single submitter
- c.1504+9A>T Single submitter
- c.1505-13C>T Single submitter
- c.1505-13del Single submitter
- c.1505-15T>C Single submitter
- c.1505-4G>T Single submitter
- c.1505-9G>A Single submitter
- c.1575+11_1575+12insAA Single submitter
- c.1575+11A>T Single submitter
- c.1575+12T>A Single submitter
- c.1575+14T>C Single submitter
- c.1575+8T>G Single submitter
- c.1575+9_1575+12del Single submitter
- c.1576-11T>C Single submitter
- c.1576-12G>A Single submitter
- c.1576-14G>T Single submitter
- c.1576-153A>T Single submitter
- c.1576-4C>T Single submitter
- c.1576-8T>C Single submitter
- c.1758+11A>G Single submitter
- c.1758+7A>G Single submitter
- c.1759-10G>A Single submitter
- c.1759-10G>T Single submitter
- c.1759-12C>T Single submitter
- c.1759-13C>A Single submitter
- c.1759-13C>G Single submitter
- c.1759-14T>C Single submitter
- c.1759-14T>G Single submitter
- c.1759-16A>T Single submitter
- c.1759-270T>G Single submitter
- c.1759-301T>C Single submitter
- c.1759-5C>T Single submitter
- c.1759-6T>C Single submitter
- c.1759-7G>A Single submitter
- c.1927+19del Single submitter
- c.1927+249T>C Single submitter
- c.1927+9G>A Single submitter
- c.1928-13A>C Single submitter
- c.1928-16C>T Single submitter
- c.1928-17C>T Single submitter
- c.1928-219A>G Single submitter
- c.2020+12C>G Single submitter
- c.2021-111_2021-109del Single submitter
- c.2021-12T>C Single submitter
- c.2021-14T>C Single submitter
- c.2021-15G>A Single submitter
- c.2021-15G>T Single submitter
- c.2021-173G>A Single submitter
- c.2021-17G>C Single submitter
- c.2021-18T>C Single submitter
- c.2125+13T>A Single submitter
- c.2125+20A>G Single submitter
- c.2125+7T>A Single submitter
- c.2125+8T>A Single submitter
- c.2126-14T>C Single submitter
- c.2126-18_2126-16del Single submitter
- c.2126-44A>G Single submitter
- c.2126-4G>A Single submitter
- c.2126-4G>C Single submitter
- c.2126-6C>T Single submitter
- c.2126-8C>G Single submitter
- c.2223+10_2223+11dup Single submitter
- c.2223+12T>A Single submitter
- c.2223+12T>C Single submitter
- c.2223+18C>G Single submitter
- c.2223+20A>G Single submitter
- c.2224-10T>A Single submitter
- c.2224-10T>C Single submitter
- c.2224-11C>A Single submitter
- c.2224-13T>A Single submitter
- c.2224-16A>G Single submitter
- c.2224-18A>G Single submitter
- c.2224-7G>A Single submitter
- c.2224-9A>G Single submitter
- c.234+10C>A Single submitter
- c.234+13G>T Single submitter
- c.234+17G>A Single submitter
- c.234+19T>C Single submitter
- c.234+7C>T Single submitter
- c.235-10T>C Single submitter
- c.235-12A>T Single submitter
- c.235-20C>T Single submitter
- c.235-9T>C Single submitter
- c.2374+114T>C Single submitter
- c.2374+12A>C Single submitter
- c.2374+15G>T Single submitter
- c.2374+7T>C Single submitter
- c.2374+9G>C Single submitter Alport syndrome
- c.2374+9G>T Single submitter
- c.2375-13C>T Single submitter
- c.2375-19C>T Single submitter
- c.2375-20A>G Single submitter
- c.2375-20A>T Single submitter
- c.2375-4G>C Single submitter
- c.2375-6T>C Single submitter
- c.2488+11G>A Single submitter
- c.2488+12G>A Single submitter
- c.2488+7G>A Single submitter
- c.2488+7G>C Single submitter
- c.2488+8G>A Single submitter
- c.2489-11T>C Single submitter
- c.2489-19T>C Single submitter
- c.2489-8G>C Single submitter
- c.2656+10T>C Single submitter
- c.2656+10TG[2] Single submitter
- c.2656+11G>T Single submitter
- c.2656+19C>G Single submitter
Uncertain significance 831
Showing the top 300 by review status; the full set is in the sitemap.
- c.1029+4del Multiple submitters autosomal dominant Alport syndrome
- c.1759-11T>A Multiple submitters autosomal recessive Alport syndrome
- c.1927+11T>A Multiple submitters autosomal dominant Alport syndrome
- c.2020+2dup Multiple submitters
- c.2223+5G>A Multiple submitters autosomal dominant Alport syndrome
- c.3337+6G>T Multiple submitters autosomal dominant Alport syndrome
- c.388-10T>C Multiple submitters autosomal dominant Alport syndrome
- c.765+3A>G Multiple submitters autosomal dominant Alport syndrome
- p.Ala1097Gly Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Ala1252Val Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Ala1555Thr Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Ala367Val Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Ala642= Multiple submitters hematuria, benign familial
- p.Ala6Ser Multiple submitters ⚠
- p.Arg1011His Multiple submitters Alport syndrome 3b, autosomal recessive ⚠
- p.Arg1040Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1159Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1293His Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Arg1345His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1432Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1432Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg1516Gln Multiple submitters autosomal recessive Alport syndrome ⚠
- p.Arg229Gln Multiple submitters hematuria, benign familial, 2 ⚠
- p.Arg229Leu Multiple submitters hematuria, benign familial ⚠
- p.Arg229Trp Multiple submitters Alport syndrome 3b, autosomal recessive ⚠
- p.Arg254Thr Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Arg341Cys Multiple submitters Alport syndrome 3b, autosomal recessive ⚠
- p.Arg368Cys Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Arg444His Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Arg4Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asp1078Gly Multiple submitters hematuria, benign familial ⚠
- p.Asp1434Gly Multiple submitters hematuria, benign familial, 2 ⚠
- p.Asp252Glu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Asp466Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp600Asn Multiple submitters Alport syndrome ⚠
- p.Asp998Gly Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Cys476Ser Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Cys682Arg Multiple submitters ⚠
- p.Cys809Gly Multiple submitters ⚠
- p.Gln371Arg Multiple submitters ⚠
- p.Glu1084Asp Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Glu1084Val Multiple submitters ⚠
- p.Glu345Val Multiple submitters ⚠
- p.Glu585Lys Multiple submitters COL4A3-related disorder ⚠
- p.Glu69Ala Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Glu728Asp Multiple submitters COL4A3-related disorder ⚠
- p.Glu785Asp Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Glu956Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly1061Cys Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly1110Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly1140Asp Multiple submitters ⚠
- p.Gly118Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly118Glu Multiple submitters ⚠
- p.Gly1231Ser Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly1328Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly1382Val Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly1484Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly1573Ser Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly157Cys Multiple submitters ⚠
- p.Gly1590Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly1593Val Multiple submitters ⚠
- p.Gly236Arg Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly239Ala Multiple submitters ⚠
- p.Gly239Glu Multiple submitters autosomal recessive Alport syndrome ⚠
- p.Gly268= Multiple submitters autosomal dominant Alport syndrome
- p.Gly312Glu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly389Ala Multiple submitters ⚠
- p.Gly446Val Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly584= Multiple submitters autosomal dominant Alport syndrome
- p.Gly602Asp Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly619Glu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly646Glu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly671Asp Multiple submitters ⚠
- p.Gly698Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly730Arg Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly812Arg Multiple submitters autosomal dominant Alport syndrome
- p.Gly812Ser Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Gly874Arg Multiple submitters ⚠
- p.Gly943Arg Multiple submitters Alport syndrome 3b, autosomal recessive ⚠
- p.Gly943Arg Multiple submitters autosomal dominant Alport syndrome ⚠
- p.His863Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Ile1220Arg Multiple submitters Alport syndrome 3b, autosomal recessive ⚠
- p.Ile1330Thr Multiple submitters ⚠
- p.Ile1353Val Multiple submitters hematuria, benign familial, 2 ⚠
- p.Ile1567Ser Multiple submitters hematuria, benign familial ⚠
- p.Ile1567Thr Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Ile1659Val Multiple submitters ⚠
- p.Ile223Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile95Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Leu1075Arg Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Leu1129Pro Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Leu1174Val Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Leu1356Arg Multiple submitters ⚠
- p.Leu509Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu579Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu83Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu98Trp Multiple submitters ⚠
- p.Lys1398Gln Multiple submitters ⚠
- p.Lys29= Multiple submitters
- p.Lys29Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys741= Multiple submitters autosomal dominant Alport syndrome
- p.Lys78Gln Multiple submitters ⚠
- p.Met1022Val Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Met1079Lys Multiple submitters Inborn genetic diseases ⚠
- p.Met1085Arg Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Met1585Val Multiple submitters hematuria, benign familial, 2 ⚠
- p.Phe1034Ile Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Phe1199Leu Multiple submitters ⚠
- p.Pro1014Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro1035Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro1067Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro1076Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro1090Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro1132His Multiple submitters Alport syndrome 3b, autosomal recessive ⚠
- p.Pro1150Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1235Arg Multiple submitters ⚠
- p.Pro1256Leu Multiple submitters ⚠
- p.Pro1309Ser Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro1332Arg Multiple submitters Alport syndrome ⚠
- p.Pro1333Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro147Leu Multiple submitters kidney disorder ⚠
- p.Pro1501Gln Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro1554Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro1568Ser Multiple submitters autosomal recessive Alport syndrome
- p.Pro15Arg Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro176Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro196Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro214His Multiple submitters Inborn genetic diseases ⚠
- p.Pro275Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro359Ala Multiple submitters ⚠
- p.Pro376Leu Multiple submitters Alport syndrome 3b, autosomal recessive ⚠
- p.Pro380Ser Multiple submitters ⚠
- p.Pro432Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro460Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro483Ser Multiple submitters hematuria, benign familial, 2 ⚠
- p.Pro556Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro598Ala Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro609Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro638Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro657Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro658Ala Multiple submitters ⚠
- p.Pro663Ser Multiple submitters autosomal recessive Alport syndrome ⚠
- p.Pro664Leu Multiple submitters ⚠
- p.Pro685Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro723Ser Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro752Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro794Leu Multiple submitters Alport syndrome ⚠
- p.Pro805His Multiple submitters Inborn genetic diseases ⚠
- p.Pro869Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro879Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Pro905Leu Multiple submitters Alport syndrome 3b, autosomal recessive ⚠
- p.Pro9Leu Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Ser1147Phe Multiple submitters Stickler syndrome ⚠
- p.Ser1591Phe Multiple submitters hematuria, benign familial, 2 ⚠
- p.Ser2Arg Multiple submitters ⚠
- p.Ser678Tyr Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Ser719Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser764Tyr Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Thr1070Ala Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Thr1172Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr1440Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1489Ile Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Thr1621Lys Multiple submitters Inborn genetic diseases ⚠
- p.Thr1621Met Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Tyr1468Phe Multiple submitters ⚠
- p.Tyr456del Multiple submitters autosomal dominant Alport syndrome
- p.Val122Ala Multiple submitters autosomal recessive Alport syndrome ⚠
- p.Val1317Met Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Val1476Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val194Ile Multiple submitters COL4A3-related disorder ⚠
- p.Val246Met Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Val465Ile Multiple submitters autosomal dominant Alport syndrome ⚠
- p.Val923Ile Multiple submitters autosomal dominant Alport syndrome ⚠
- c.1029+3A>G Single submitter autosomal dominant Alport syndrome
- c.1029+4A>G Single submitter autosomal recessive Alport syndrome
- c.1115-14T>G Single submitter
- c.1150+4T>A Single submitter Alport syndrome
- c.1150+4T>C Single submitter Alport syndrome 3b, autosomal recessive
- c.1150+6T>C Single submitter autosomal dominant Alport syndrome
- c.1316-3T>C Single submitter
- c.1409-11T>A Single submitter
- c.1409-5T>G Single submitter autosomal dominant Alport syndrome
- c.1504+4_1504+6delinsAAT Single submitter autosomal dominant Alport syndrome
- c.1504+4C>A Single submitter
- c.1504+6A>T Single submitter
- c.1505-19A>G Single submitter
- c.1505-49T>G Single submitter autosomal dominant Alport syndrome
- c.1575+4A>G Single submitter autosomal dominant Alport syndrome
- c.1575+6A>G Single submitter
- c.1576-9C>G Single submitter
- c.1758+5G>C Single submitter
- c.1927+4G>T Single submitter autosomal dominant Alport syndrome
- c.1928-12A>G Single submitter autosomal dominant Alport syndrome
- c.2021-3A>C Single submitter
- c.2126-3T>C Single submitter autosomal dominant Alport syndrome
- c.2374+5A>C Single submitter
- c.2489-12A>T Single submitter autosomal dominant Alport syndrome
- c.2489-3C>T Single submitter
- c.2656+6C>T Single submitter
- c.2656+91C>A Single submitter autosomal dominant Alport syndrome
- c.2657-13_2657-11del Single submitter autosomal dominant Alport syndrome
- c.2746+1G>A Single submitter Inborn genetic diseases
- c.2746+4A>G Single submitter
- c.2747-11C>A Single submitter Alport syndrome
- c.279+6T>C Single submitter
- c.2881+6G>T Single submitter Alport syndrome
- c.2882-4T>G Single submitter
- c.2980+19T>C Single submitter autosomal dominant Alport syndrome
- c.2981-10T>A Single submitter
- c.3070+4A>G Single submitter
- c.3211-11C>G Single submitter autosomal dominant Alport syndrome
- c.3211-13G>A Single submitter Alport syndrome
- c.325-13_325-11del Single submitter Alport syndrome 3b, autosomal recessive
- c.3337+3A>G Single submitter
- c.3337+7C>A Single submitter hematuria, benign familial, 1
- c.3418+49T>C Single submitter Alport syndrome 3b, autosomal recessive
- c.3418+6A>G Single submitter
- c.3518-15G>C Single submitter Alport syndrome
- c.3518-3C>G Single submitter
- c.3566-11C>T Single submitter autosomal dominant Alport syndrome
- c.3752-3C>T Single submitter
- c.3752-8_3752-7delinsAT Single submitter
- c.388-8T>A Single submitter
- c.3955+6G>C Single submitter
- c.442-13_442-10del Single submitter COL4A3-related disorder
- c.609+2_609+3insTT Single submitter autosomal dominant Alport syndrome
- c.609+5G>A Single submitter
- c.610-3T>C Single submitter
- c.645+3A>G Single submitter autosomal dominant Alport syndrome
- c.645+5A>T Single submitter
- c.646-13T>G Single submitter
- c.687+5T>C Single submitter
- c.766-3dup Single submitter
- c.87+3G>A Single submitter
- c.889-3T>A Single submitter
- c.889-53_987+36del Single submitter autosomal dominant Alport syndrome
- c.933+4T>C Single submitter
- c.-134T>C Single submitter Alport syndrome
- c.-146G>C Single submitter Alport syndrome
- c.-16T>C Single submitter Alport syndrome
- c.-1C>T Single submitter
- c.-81G>C Single submitter Alport syndrome
- c.*1000C>T Single submitter Alport syndrome
- c.*1032G>A Single submitter Alport syndrome
- c.*1069_*1070dup Single submitter
- c.*1070del Single submitter
- c.*1071G>A Single submitter Alport syndrome
- c.*1238T>C Single submitter Alport syndrome
- c.*1322T>A Single submitter Alport syndrome
- c.*1340T>C Single submitter Alport syndrome
- c.*13C>A Single submitter
- c.*1612A>G Single submitter Alport syndrome
- c.*1634G>C Single submitter Alport syndrome
- c.*1639G>A Single submitter Alport syndrome
- c.*1739C>T Single submitter Alport syndrome
- c.*1764A>G Single submitter Alport syndrome
- c.*1918T>C Single submitter Alport syndrome
- c.*2048C>G Single submitter Alport syndrome
- c.*2087A>T Single submitter Alport syndrome
- c.*2180C>T Single submitter Alport syndrome
- c.*2266A>G Single submitter Alport syndrome
- c.*2272T>C Single submitter Alport syndrome
- c.*2308T>C Single submitter Alport syndrome
- c.*2565T>C Single submitter Alport syndrome
- c.*261A>T Single submitter Alport syndrome
- c.*2795T>C Single submitter Alport syndrome
- c.*2836A>G Single submitter Alport syndrome
- c.*2853A>C Single submitter Alport syndrome
- c.*287G>A Single submitter Alport syndrome
- c.*387A>C Single submitter Alport syndrome
- c.*406G>A Single submitter Alport syndrome
- c.*454G>T Single submitter Alport syndrome
- c.*459T>C Single submitter Alport syndrome
- c.*501T>C Single submitter Alport syndrome
- c.*647T>G Single submitter Alport syndrome
- c.*656T>A Single submitter Alport syndrome
- c.*660T>C Single submitter Alport syndrome
- c.*969G>A Single submitter Alport syndrome
- p.Ala1187Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1252Gly Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala1285Thr Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala1405Pro Single submitter ⚠
- p.Ala1439Gly Single submitter ⚠
- p.Ala1439Thr Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala1456Pro Single submitter ⚠
- p.Ala1540Val Single submitter ⚠
- p.Ala1555Glu Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala1557Thr Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala1599Ser Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala160Asp Single submitter Inborn genetic diseases ⚠
- p.Ala1610Asp Single submitter Inborn genetic diseases ⚠
- p.Ala169Ser Single submitter Inborn genetic diseases ⚠
- p.Ala24Pro Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala289Thr Single submitter Alport syndrome ⚠
- p.Ala367Ser Single submitter ⚠
- p.Ala367Thr Single submitter ⚠
- p.Ala413Asp Single submitter Alport syndrome ⚠
- p.Ala413Val Single submitter Inborn genetic diseases ⚠
- p.Ala423Gly Single submitter autosomal dominant Alport syndrome ⚠
- p.Ala44Asp Single submitter autosomal dominant Alport syndrome ⚠