COL4A5 — 3079 ClinVar variants
All ClinVar germline COL4A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 675 flagged for review →
541 Pathogenic · 157 Pathogenic/Likely pathogenic · 654 Likely pathogenic · 133 Conflicting · 128 Benign · 54 Benign/Likely benign · 831 Likely benign · 581 Uncertain significance
Full COL4A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 675
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 19
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
COL4A5 p.Arg1569Gln
Pathogenic/Likely pathogenic
Multiple submitters
kidney disorder
-
COL4A5 p.Gly1069Val
Pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly509Ser
Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly594Ser
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly624Val
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Ala28Ser
Pathogenic
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gln1314His
Pathogenic
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gln76His
Likely pathogenic
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly1244Ser Likely pathogenic Single submitter
- COL4A5 p.Gly624Cys Likely pathogenic Single submitter
- COL4A5 p.Gly887Ser Pathogenic Single submitter
-
COL4A5 p.Pro1118Arg
Likely pathogenic
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Pro364Leu
Likely pathogenic
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Pro364Ser
Likely pathogenic
Single submitter
X-linked Alport syndrome
- COL4A5 p.Pro619Leu Likely pathogenic Single submitter
- COL4A5 p.Ser1665Asn Pathogenic Single submitter
- COL4A5 p.Ser916Gly Likely pathogenic Single submitter
-
COL4A5 p.Asp654Tyr
Likely pathogenic
No assertion criteria
Familial hematuria
-
COL4A5 p.Pro225Leu
Likely pathogenic
No assertion criteria
steroid-resistant nephrotic syndrome
Predictors agree, ClinVar conflicts 49
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
COL4A5 p.Arg1631Cys
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Arg348Lys
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Arg777Pro
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Cys1482Tyr
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Cys1515Arg
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Cys1527Ser
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Cys1644Arg
Conflicting
Single submitter
Hematuria
-
COL4A5 p.Gln1052Pro
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gln1308Arg
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Gln1373Lys
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gln637Lys
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Gly1000Val
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1039Asp
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1170Ser
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Gly1185Asp
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly120Ser
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1238Ser
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1388Ser
Conflicting
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly1403Ser Conflicting Single submitter
-
COL4A5 p.Gly1445Val
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly159Asp
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly171Ser
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly183Asp
Conflicting
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly216Arg Conflicting Single submitter
-
COL4A5 p.Gly224Arg
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly313Val
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly409Ser
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly412Glu
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly42Ser
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly656Asp
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly702Val
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly722Glu
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly893Asp
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly926Val
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.His58Tyr
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Ile1020Thr
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Ile1135Val
Conflicting
Single submitter
X-linked Alport syndrome
- COL4A5 p.Ile1359Thr Conflicting Single submitter
- COL4A5 p.Ile244Phe Conflicting Single submitter
-
COL4A5 p.Ile706Val
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Leu1280Phe
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Lys44Asn
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Met898Val
Conflicting
Single submitter
X-linked Alport syndrome
- COL4A5 p.Met955Ile Conflicting Single submitter
-
COL4A5 p.Pro1383Leu
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Pro148Leu
Conflicting
Single submitter
Inborn genetic diseases
- COL4A5 p.Pro1523Thr Conflicting Single submitter
-
COL4A5 p.Thr1461Asn
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Tyr30Cys
Conflicting
Single submitter
X-linked Alport syndrome
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
COL4A5 p.Arg373Ter
Conflicting
Single submitter
COL4A5-related disorder
Predictors lean, ClinVar uncertain 176
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 176
-
COL4A5 p.Ala770Pro
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Arg1428Leu
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Arg1472Cys
Uncertain significance
Multiple submitters
X-linked Alport syndrome
- COL4A5 p.Asn1323Ser Uncertain significance Multiple submitters
-
COL4A5 p.Cys38Phe
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gln495Lys
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly1153Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Gly478Cys
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly814Glu
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.His1583Asp
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.His839Arg
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Ile1029Val
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Ile161Val
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Ile194Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Ile251Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Ile91Val
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Lys226Thr
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Met154Ile
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Met1551Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A5 p.Pro1523Arg Uncertain significance Multiple submitters
-
COL4A5 p.Pro277Leu
Uncertain significance
Multiple submitters
COL4A5-related disorder
-
COL4A5 p.Pro318Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Ser1494Phe
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Ser447Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Thr789Ser
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Tyr1646Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Tyr1651Cys
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Val1582Ala
Uncertain significance
Multiple submitters
X-linked Alport syndrome
- COL4A5 p.Ala115Val Uncertain significance Single submitter
- COL4A5 p.Ala1350Ser Uncertain significance Single submitter
- COL4A5 p.Ala1465Thr Uncertain significance Single submitter
-
COL4A5 p.Ala1575Asp
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Ala28Thr Uncertain significance Single submitter
- COL4A5 p.Ala430Val Uncertain significance Single submitter
- COL4A5 p.Ala520Val Uncertain significance Single submitter
- COL4A5 p.Ala537Ser Uncertain significance Single submitter
- COL4A5 p.Ala640Val Uncertain significance Single submitter
-
COL4A5 p.Ala726Thr
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Ala754Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A5 p.Ala870Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Arg1428Ser Uncertain significance Single submitter
-
COL4A5 p.Arg1678Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Arg4Ser Uncertain significance Single submitter
-
COL4A5 p.Arg732Lys
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Arg777Leu Uncertain significance Single submitter
-
COL4A5 p.Asn1283Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Asn1323Asp Uncertain significance Single submitter
-
COL4A5 p.Asn804Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A5 p.Asp1067Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Asp1328His Uncertain significance Single submitter
-
COL4A5 p.Asp682Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Asp847Asn Uncertain significance Single submitter
- COL4A5 p.Cys1515Tyr Uncertain significance Single submitter
- COL4A5 p.Cys1626Ser Uncertain significance Single submitter
- COL4A5 p.Cys1626Trp Uncertain significance Single submitter
- COL4A5 p.Cys1626Tyr Uncertain significance Single submitter
- COL4A5 p.Cys1638Ser Uncertain significance Single submitter
-
COL4A5 p.Cys1687Phe
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gln1453Lys Uncertain significance Single submitter
-
COL4A5 p.Gln1475His
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gln1685Pro Uncertain significance Single submitter
- COL4A5 p.Gln260Pro Uncertain significance Single submitter
- COL4A5 p.Gln291Pro Uncertain significance Single submitter
- COL4A5 p.Gln379Pro Uncertain significance Single submitter
- COL4A5 p.Gln645Lys Uncertain significance Single submitter
-
COL4A5 p.Gln657Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Glu1248Lys Uncertain significance Single submitter
- COL4A5 p.Glu49Asp Uncertain significance Single submitter
- COL4A5 p.Glu736Gln Uncertain significance Single submitter
-
COL4A5 p.Gly1048Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1051Glu
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1080Ala
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1083Asp
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1107Val
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Gly1154Arg Uncertain significance Single submitter
- COL4A5 p.Gly1176Glu Uncertain significance Single submitter
-
COL4A5 p.Gly117Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly11Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A5 p.Gly1357Val
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly1460Glu Uncertain significance Single submitter
-
COL4A5 p.Gly1506Asp
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly1510Ala Uncertain significance Single submitter
-
COL4A5 p.Gly156Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly156Asp Uncertain significance Single submitter
- COL4A5 p.Gly156Val Uncertain significance Single submitter
- COL4A5 p.Gly1624Ala Uncertain significance Single submitter
- COL4A5 p.Gly1640Arg Uncertain significance Single submitter
-
COL4A5 p.Gly198Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly201Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly227Asp
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly230Ser
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly239Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly270Arg
Uncertain significance
Single submitter
hearing loss disorder
- COL4A5 p.Gly286Cys Uncertain significance Single submitter
-
COL4A5 p.Gly295Ser
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly435Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly512Glu Uncertain significance Single submitter
-
COL4A5 p.Gly536Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly609Cys
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly696Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly705Arg Uncertain significance Single submitter
-
COL4A5 p.Gly707Arg
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly725Glu
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly728Arg
Uncertain significance
Single submitter
Mild proteinuria
-
COL4A5 p.Gly840Glu
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly941Asp
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.His1473Tyr
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Ile1020Val Uncertain significance Single submitter
- COL4A5 p.Ile1070Val Uncertain significance Single submitter
-
COL4A5 p.Ile1073Thr
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Ile1470Val
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Ile355Val Uncertain significance Single submitter
-
COL4A5 p.Ile361Val
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Ile43Thr Uncertain significance Single submitter
- COL4A5 p.Ile833Val Uncertain significance Single submitter
-
COL4A5 p.Ile867Thr
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Ile874Val
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Leu1247Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A5 p.Leu1487Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A5 p.Leu363Phe
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Leu771Val Uncertain significance Single submitter
- COL4A5 p.Leu995Pro Uncertain significance Single submitter
- COL4A5 p.Lys1082Asn Uncertain significance Single submitter
- COL4A5 p.Lys1168Gln Uncertain significance Single submitter
- COL4A5 p.Lys128Asn Uncertain significance Single submitter
- COL4A5 p.Lys288Asn Uncertain significance Single submitter
- COL4A5 p.Lys47Asn Uncertain significance Single submitter
- COL4A5 p.Lys798Asn Uncertain significance Single submitter
-
COL4A5 p.Lys922Asn
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Met1525Ile Uncertain significance Single submitter
-
COL4A5 p.Met154Val
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Met203Ile Uncertain significance Single submitter
- COL4A5 p.Met810Ile Uncertain significance Single submitter
-
COL4A5 p.Met955Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Phe1227Ser Uncertain significance Single submitter
- COL4A5 p.Phe1524Leu Uncertain significance Single submitter
- COL4A5 p.Phe1524Val Uncertain significance Single submitter
-
COL4A5 p.Phe482Tyr
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Phe52Ile
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Phe625Val Uncertain significance Single submitter
-
COL4A5 p.Pro1256Leu
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Pro1259Leu Uncertain significance Single submitter
- COL4A5 p.Pro34Thr Uncertain significance Single submitter
- COL4A5 p.Pro604Leu Uncertain significance Single submitter
- COL4A5 p.Pro723Leu Uncertain significance Single submitter
-
COL4A5 p.Pro723Thr
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Pro850Ser Uncertain significance Single submitter
-
COL4A5 p.Ser1055Tyr
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Ser1494Cys
Uncertain significance
Single submitter
Hematuria
- COL4A5 p.Ser1520Arg Uncertain significance Single submitter
Predictors split 430
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 430
-
COL4A5 p.Ala1633Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Ala430Asp
Benign/Likely benign
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Ala886Gly
Likely benign
Multiple submitters
X-linked Alport syndrome
- COL4A5 p.Arg1262Lys Uncertain significance Multiple submitters
-
COL4A5 p.Arg1319Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Arg1416His
Benign/Likely benign
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Arg1503Thr
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Arg1517Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Arg1518His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Arg1631His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Arg673Gly
Benign/Likely benign
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Arg777Cys
Likely benign
Multiple submitters
Alport syndrome
-
COL4A5 p.Arg788His
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Arg862Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Asp1064Asn
Likely benign
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Glu357Lys
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Glu516Gln
Likely benign
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly1039Ser
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly1143Ser
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly1164Ser
Pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly1229Ala
Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly1229Ser
Pathogenic
Multiple submitters
COL4A5-related disorder
-
COL4A5 p.Gly1300Ser
Likely pathogenic
Multiple submitters
Alport syndrome
-
COL4A5 p.Gly138Ser
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly1424Ser
Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly186Ser
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly276Ser
Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly307Ser
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly328Ser
Pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly457Ser
Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly621Ser
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly624Asp
Pathogenic/Likely pathogenic
Multiple submitters
Monogenic hearing loss
-
COL4A5 p.Gly743Ser
Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly817Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Gly878Ala
Pathogenic/Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly929Ser
Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Gly970Ser
Likely pathogenic
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Ile694Val
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Leu1322Val
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Leu1358Ile
Benign/Likely benign
Multiple submitters
Alport syndrome
-
COL4A5 p.Leu14Val
Uncertain significance
Multiple submitters
X-linked Alport syndrome
- COL4A5 p.Leu1677Val Uncertain significance Multiple submitters
- COL4A5 p.Leu55Trp Uncertain significance Multiple submitters
-
COL4A5 p.Leu764Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A5 p.Lys1166Glu Uncertain significance Multiple submitters
-
COL4A5 p.Lys590Glu
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Lys963Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Met1663Val
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Pro1014Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro1050Ser
Benign/Likely benign
Multiple submitters
X-linked Alport syndrome
- COL4A5 p.Pro1103Ser Uncertain significance Multiple submitters
- COL4A5 p.Pro1236Ala Uncertain significance Multiple submitters
-
COL4A5 p.Pro1243Leu
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Pro1263Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A5 p.Pro1263Ser Uncertain significance Multiple submitters
-
COL4A5 p.Pro1293Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro1320Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro1411Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COL4A5 p.Pro1420Ala Uncertain significance Multiple submitters
-
COL4A5 p.Pro1455Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro1557Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro1565Ala
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Pro1576Ala
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Pro185Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro309Arg
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Pro395Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro395Ser
Uncertain significance
Multiple submitters
nonsyndromic genetic hearing loss
-
COL4A5 p.Pro396Leu
Benign/Likely benign
Multiple submitters
X-linked Alport syndrome
- COL4A5 p.Pro589Leu Uncertain significance Multiple submitters
-
COL4A5 p.Pro668Leu
Uncertain significance
Multiple submitters
X-linked Alport syndrome
- COL4A5 p.Pro712Arg Uncertain significance Multiple submitters
-
COL4A5 p.Pro71Leu
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Pro745Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro773Ser
Uncertain significance
Multiple submitters
COL4A5-related disorder
-
COL4A5 p.Pro812Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Pro858Thr
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Pro865Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Ser136Gly
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Thr1671Met
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
COL4A5 p.Val1658Leu
Uncertain significance
Multiple submitters
X-linked Alport syndrome
-
COL4A5 p.Ala1581Ser
Conflicting
Single submitter
X-linked Alport syndrome
- COL4A5 p.Ala1611Gly Uncertain significance Single submitter
- COL4A5 p.Ala1619Val Uncertain significance Single submitter
- COL4A5 p.Ala1621Val Benign Single submitter
-
COL4A5 p.Ala16Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Ala26Thr Likely benign Single submitter
- COL4A5 p.Arg131Cys Benign Single submitter
-
COL4A5 p.Arg1416Cys
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Arg1428Cys
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Arg1428His
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Arg1441Cys
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Arg1441His Likely benign Single submitter
- COL4A5 p.Arg1517His Conflicting Single submitter
-
COL4A5 p.Arg1641Lys
Uncertain significance
Single submitter
COL4A5-related disorder
-
COL4A5 p.Arg266Gly
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Arg275Cys
Conflicting
Single submitter
Inborn genetic diseases
-
COL4A5 p.Arg275His
Conflicting
Single submitter
Inborn genetic diseases
- COL4A5 p.Arg373Gln Likely benign Single submitter
- COL4A5 p.Arg673Ser Uncertain significance Single submitter
- COL4A5 p.Arg74Leu Uncertain significance Single submitter
- COL4A5 p.Arg74Trp Uncertain significance Single submitter
- COL4A5 p.Arg777His Likely benign Single submitter
-
COL4A5 p.Arg788Cys
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Asn125Ser
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Asn1531Ser
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Asn1649Ser Uncertain significance Single submitter
- COL4A5 p.Asn616Tyr Likely benign Single submitter
-
COL4A5 p.Asp113Asn
Conflicting
Single submitter
X-linked Alport syndrome
- COL4A5 p.Asp1206Gly Uncertain significance Single submitter
- COL4A5 p.Asp1597Asn Uncertain significance Single submitter
- COL4A5 p.Asp1659Tyr Uncertain significance Single submitter
-
COL4A5 p.Asp265Asn
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Asp303Val
Uncertain significance
Single submitter
Inborn genetic diseases
- COL4A5 p.Asp327Glu Likely benign Single submitter
- COL4A5 p.Asp327Gly Likely benign Single submitter
- COL4A5 p.Asp476Gly Likely benign Single submitter
-
COL4A5 p.Asp549Gly
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Asp925Tyr
Uncertain significance
Single submitter
COL4A5-related disorder
-
COL4A5 p.Cys451Ser
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gln1257His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A5 p.Gln1499His
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Glu1084Ala
Conflicting
Single submitter
hearing loss disorder
-
COL4A5 p.Glu1165Lys
Conflicting
Single submitter
Inborn genetic diseases
- COL4A5 p.Glu1183Lys Uncertain significance Single submitter
-
COL4A5 p.Glu1224Lys
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Glu357Asp
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Glu369Asp Uncertain significance Single submitter
-
COL4A5 p.Glu372Lys
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Glu46Gly
Likely benign
Single submitter
X-linked Alport syndrome
- COL4A5 p.Glu46Lys Uncertain significance Single submitter
-
COL4A5 p.Glu470Gly
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Glu49Gly
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Glu562Lys Likely benign Single submitter
- COL4A5 p.Glu592Gln Uncertain significance Single submitter
-
COL4A5 p.Glu897Lys
Uncertain significance
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly1018Ser Likely pathogenic Single submitter
- COL4A5 p.Gly1069Asp Pathogenic Single submitter
- COL4A5 p.Gly1074Ser Likely benign Single submitter
- COL4A5 p.Gly1104Ser Likely pathogenic Single submitter
-
COL4A5 p.Gly1128Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COL4A5 p.Gly1149Ser
Likely pathogenic
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly1152Cys Likely pathogenic Single submitter
-
COL4A5 p.Gly1188Ser
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly11Cys
Uncertain significance
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1241Ala
Likely pathogenic
Single submitter
X-linked Alport syndrome
- COL4A5 p.Gly1241Ser Likely pathogenic Single submitter
-
COL4A5 p.Gly1285Ser
Conflicting
Single submitter
X-linked Alport syndrome
-
COL4A5 p.Gly1300Ala
Conflicting
Single submitter
Inborn genetic diseases
- COL4A5 p.Gly1330Ala Likely pathogenic Single submitter
-
COL4A5 p.Gly1333Ala
Likely pathogenic
Single submitter
X-linked Alport syndrome
All COL4A5 variants
Pathogenic 541
Showing the top 300 by review status; the full set is in the sitemap.
- c.1033-1G>A Multiple submitters X-linked Alport syndrome
- c.141+1G>A Multiple submitters X-linked Alport syndrome
- c.1423+1G>A Multiple submitters
- c.1516+1G>C Multiple submitters X-linked Alport syndrome
- c.1780-1G>T Multiple submitters COL4A5-related disorder
- c.1780-2A>G Multiple submitters
- c.2146+1G>C Multiple submitters X-linked Alport syndrome
- c.2244+1G>A Multiple submitters X-linked Alport syndrome
- c.2244+1G>T Multiple submitters X-linked Alport syndrome
- c.231+1G>A Multiple submitters
- c.2395+1G>A Multiple submitters X-linked Alport syndrome
- c.2396-1G>C Multiple submitters X-linked Alport syndrome
- c.2917+1G>A Multiple submitters X-linked Alport syndrome
- c.2917+1G>C Multiple submitters X-linked Alport syndrome
- c.3454+1G>A Multiple submitters X-linked Alport syndrome
- c.3455-9A>G Multiple submitters X-linked Alport syndrome
- c.3604+1G>A Multiple submitters X-linked Alport syndrome
- c.3809-1G>A Multiple submitters X-linked Alport syndrome
- c.4087+1G>A Multiple submitters
- c.4315+1G>A Multiple submitters X-linked Alport syndrome
- c.4316-1G>T Multiple submitters X-linked Alport syndrome
- c.465+1G>A Multiple submitters X-linked Alport syndrome
- c.4706+1G>T Multiple submitters X-linked Alport syndrome
- c.4706+2T>C Multiple submitters X-linked Alport syndrome
- c.546+2dup Multiple submitters X-linked Alport syndrome
- c.546+2T>G Multiple submitters X-linked Alport syndrome
- c.609+1G>A Multiple submitters X-linked Alport syndrome
- c.687+1G>A Multiple submitters X-linked Alport syndrome
- c.81+2dup Multiple submitters X-linked Alport syndrome
- c.936+1G>A Multiple submitters X-linked Alport syndrome
- p.Arg1569Ter Multiple submitters X-linked Alport syndrome
- p.Arg1680Ter Multiple submitters Alport syndrome
- p.Arg1683Ter Multiple submitters X-linked Alport syndrome
- p.Arg266Ter Multiple submitters X-linked Alport syndrome
- p.Asn607fs Multiple submitters X-linked Alport syndrome
- p.Cys1570Ser Multiple submitters X-linked Alport syndrome
- p.Gln1171Ter Multiple submitters X-linked Alport syndrome
- p.Gln1257Ter Multiple submitters X-linked Alport syndrome
- p.Gln1389Ter Multiple submitters
- p.Gln1499Ter Multiple submitters
- p.Gln580Ter Multiple submitters
- p.Gln645Ter Multiple submitters X-linked Alport syndrome
- p.Gln984Ter Multiple submitters Hematuria
- p.Gln992Ter Multiple submitters X-linked Alport syndrome
- p.Glu1224Ter Multiple submitters X-linked Alport syndrome
- p.Glu1355fs Multiple submitters X-linked Alport syndrome
- p.Glu254fs Multiple submitters X-linked Alport syndrome
- p.Glu945Ter Multiple submitters X-linked Alport syndrome
- p.Gly1060Ter Multiple submitters X-linked Alport syndrome
- p.Gly1066Asp Multiple submitters X-linked Alport syndrome
- p.Gly1066Ser Multiple submitters X-linked Alport syndrome
- p.Gly1066Val Multiple submitters X-linked Alport syndrome
- p.Gly1069Val Multiple submitters X-linked Alport syndrome ⚠
- p.Gly1107Arg Multiple submitters X-linked Alport syndrome
- p.Gly1164Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly1205Asp Multiple submitters X-linked Alport syndrome
- p.Gly1229Ser Multiple submitters COL4A5-related disorder ⚠
- p.Gly1235Val Multiple submitters X-linked Alport syndrome
- p.Gly1241Cys Multiple submitters X-linked Alport syndrome
- p.Gly129Arg Multiple submitters X-linked Alport syndrome
- p.Gly1448Arg Multiple submitters X-linked Alport syndrome
- p.Gly192Trp Multiple submitters X-linked Alport syndrome
- p.Gly204Asp Multiple submitters X-linked Alport syndrome
- p.Gly216Glu Multiple submitters X-linked Alport syndrome
- p.Gly230Asp Multiple submitters X-linked Alport syndrome
- p.Gly292Arg Multiple submitters X-linked Alport syndrome
- p.Gly325Arg Multiple submitters Inborn genetic diseases
- p.Gly328Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly334Asp Multiple submitters X-linked Alport syndrome
- p.Gly334Val Multiple submitters X-linked Alport syndrome
- p.Gly365Arg Multiple submitters
- p.Gly383Arg Multiple submitters Alport syndrome
- p.Gly406Val Multiple submitters X-linked Alport syndrome
- p.Gly409Asp Multiple submitters Inborn genetic diseases
- p.Gly420Arg Multiple submitters
- p.Gly472Arg Multiple submitters X-linked Alport syndrome
- p.Gly475Ser Multiple submitters X-linked Alport syndrome
- p.Gly515Arg Multiple submitters X-linked Alport syndrome
- p.Gly521Asp Multiple submitters X-linked Alport syndrome
- p.Gly558Asp Multiple submitters X-linked Alport syndrome
- p.Gly594Asp Multiple submitters X-linked Alport syndrome
- p.Gly603Ser Multiple submitters X-linked Alport syndrome
- p.Gly603Val Multiple submitters X-linked Alport syndrome
- p.Gly615Glu Multiple submitters
- p.Gly632Asp Multiple submitters
- p.Gly638Ser Multiple submitters X-linked Alport syndrome
- p.Gly696Asp Multiple submitters X-linked Alport syndrome
- p.Gly811Val Multiple submitters X-linked Alport syndrome
- p.Gly834Arg Multiple submitters X-linked Alport syndrome
- p.Gly834Val Multiple submitters X-linked Alport syndrome
- p.Gly872Cys Multiple submitters X-linked Alport syndrome
- p.Gly878Glu Multiple submitters X-linked Alport syndrome
- p.Gly887Val Multiple submitters
- p.His1583fs Multiple submitters X-linked Alport syndrome
- p.Leu927fs Multiple submitters Inborn genetic diseases
- p.Met1Val Multiple submitters X-linked Alport syndrome
- p.Phe1123fs Multiple submitters
- p.Phe222Cys Multiple submitters X-linked Alport syndrome
- p.Pro53fs Multiple submitters X-linked Alport syndrome
- p.Pro686fs Multiple submitters X-linked Alport syndrome
- p.Tyr30Ter Multiple submitters X-linked Alport syndrome
- c.1033-1_1033insAAATTCCCAG Single submitter
- c.1340-2A>G Single submitter X-linked Alport syndrome
- c.141+2T>C Single submitter
- c.1423+1G>T Single submitter autosomal dominant Alport syndrome
- c.1424-2_1430delAGGTGACAA Single submitter Hematuria
- c.1424-2A>C Single submitter X-linked Alport syndrome
- c.1517-1G>A Single submitter
- c.1517-1G>C Single submitter
- c.1587+1G>A Single submitter
- c.1587+1G>C Single submitter
- c.1587+6T>G Single submitter X-linked Alport syndrome
- c.1780-6T>G Single submitter
- c.1948+1G>C Single submitter
- c.2041+1G>A Single submitter X-linked Alport syndrome
- c.2042-18A>G Single submitter X-linked Alport syndrome
- c.2042-1G>A Single submitter
- c.2042del Single submitter X-linked Alport syndrome
- c.2146+1G>T Single submitter
- c.2147-2A>G Single submitter X-linked Alport syndrome
- c.2245-1G>A Single submitter
- c.232-2A>G Single submitter X-linked Alport syndrome
- c.2388_2395+6delinsCC Single submitter Hematuria
- c.2395+2T>A Single submitter X-linked Alport syndrome
- c.2396-1G>T Single submitter
- c.2509+1G>A Single submitter
- c.2509+2T>G Single submitter X-linked Alport syndrome
- c.2510-1_2523del Single submitter
- c.2767+1G>C Single submitter
- c.277-559A>G Single submitter X-linked Alport syndrome
- c.2917+2T>A Single submitter X-linked Alport syndrome
- c.2918-1G>A Single submitter X-linked Alport syndrome
- c.3016+1G>C Single submitter
- c.3017-1G>A Single submitter
- c.321+2T>G Single submitter X-linked Alport syndrome
- c.322-1G>T Single submitter X-linked Alport syndrome
- c.3246+1G>A Single submitter
- c.3247-1G>C Single submitter X-linked Alport syndrome
- c.3247-2A>G Single submitter
- c.3455-1G>A Single submitter X-linked Alport syndrome
- c.3553+2T>C Single submitter X-linked Alport syndrome
- c.3605-2A>G Single submitter
- c.3791-41A>G Single submitter X-linked Alport syndrome
- c.385-1G>C Single submitter X-linked Alport syndrome
- c.4015+2T>C Single submitter
- c.4016-2del Single submitter X-linked Alport syndrome
- c.4316-1G>A Single submitter X-linked Alport syndrome
- c.438+1G>A Single submitter X-linked Alport syndrome
- c.4528+1754T>G Single submitter
- c.4528+1G>A Single submitter
- c.4528+1G>C Single submitter X-linked Alport syndrome
- c.4529-1G>C Single submitter X-linked Alport syndrome
- c.465+1_465+5del Single submitter
- c.465+2T>C Single submitter
- c.465+2T>G Single submitter X-linked Alport syndrome
- c.466-1G>C Single submitter
- c.4706+1G>A Single submitter
- c.4706+1G>C Single submitter
- c.4707-1G>C Single submitter
- c.4821+1G>A Single submitter
- c.4821+2T>C Single submitter
- c.4822-1G>T Single submitter X-linked Alport syndrome
- c.4822-2A>G Single submitter X-linked Alport syndrome
- c.547-1G>A Single submitter X-linked Alport syndrome
- c.547-3C>A Single submitter
- c.609+879A>G Single submitter X-linked Alport syndrome
- c.646-2A>G Single submitter
- c.67_81+1del Single submitter
- c.687+1G>C Single submitter
- c.780+5G>A Single submitter
- c.781-1G>A Single submitter
- c.781-2A>G Single submitter
- c.81+1G>C Single submitter X-linked Alport syndrome
- c.82-1G>A Single submitter X-linked Alport syndrome
- c.834+1G>C Single submitter
- c.891+1G>A Single submitter
- c.891+2T>A Single submitter
- c.892-2A>G Single submitter
- c.936+2T>C Single submitter Alport syndrome
- c.937-2A>G Single submitter
- p.Ala28Ser Single submitter X-linked Alport syndrome ⚠
- p.Ala430_Gly435del Single submitter
- p.Ala726_Gly737del Single submitter
- p.Ala886fs Single submitter
- p.Arg1517fs Single submitter
- p.Arg405fs Single submitter X-linked Alport syndrome
- p.Asn306fs Single submitter X-linked Alport syndrome
- p.Asn607_Gly624del Single submitter
- p.Asn642fs Single submitter
- p.Asp1307fs Single submitter X-linked Alport syndrome
- p.Asp1597fs Single submitter X-linked Alport syndrome
- p.Asp464fs Single submitter Inborn genetic diseases
- p.Asp847_Asp854del Single submitter
- p.Asp847fs Single submitter
- p.Cys1482Trp Single submitter
- p.Cys1515fs Single submitter X-linked Alport syndrome
- p.Cys1573Arg Single submitter X-linked Alport syndrome
- p.Cys1644Gly Single submitter X-linked Alport syndrome
- p.Gln1061Ter Single submitter X-linked Alport syndrome
- p.Gln1159Ter Single submitter X-linked Alport syndrome
- p.Gln1180Ter Single submitter
- p.Gln1308Ter Single submitter
- p.Gln1314His Single submitter X-linked Alport syndrome ⚠
- p.Gln1314Ter Single submitter
- p.Gln1373fs Single submitter X-linked Alport syndrome
- p.Gln1481fs Single submitter
- p.Gln1481Ter Single submitter X-linked Alport syndrome
- p.Gln1488Ter Single submitter
- p.Gln1507Ter Single submitter X-linked Alport syndrome
- p.Gln1618Ter Single submitter X-linked Alport syndrome
- p.Gln22fs Single submitter
- p.Gln247Ter Single submitter
- p.Gln332Ter Single submitter
- p.Gln468Ter Single submitter X-linked Alport syndrome
- p.Gln471fs Single submitter X-linked Alport syndrome
- p.Gln471Ter Single submitter
- p.Gln495Ter Single submitter
- p.Gln513Ter Single submitter X-linked Alport syndrome
- p.Gln657fs Single submitter X-linked Alport syndrome
- p.Gln657Ter Single submitter
- p.Gln76fs Single submitter X-linked Alport syndrome
- p.Glu254Ter Single submitter
- p.Glu290Ter Single submitter
- p.Glu305Ter Single submitter
- p.Glu46Ter Single submitter
- p.Glu516fs Single submitter X-linked Alport syndrome
- p.Glu844Ter Single submitter
- p.Glu945fs Single submitter X-linked Alport syndrome
- p.Glu968fs Single submitter
- p.Gly1000Ter Single submitter X-linked Alport syndrome
- p.Gly1006Val Single submitter
- p.Gly1012Asp Single submitter
- p.Gly1015Arg Single submitter X-linked Alport syndrome
- p.Gly1018fs Single submitter
- p.Gly1027fs Single submitter
- p.Gly1033Asp Single submitter X-linked Alport syndrome
- p.Gly1033Ser Single submitter
- p.Gly1036Arg Single submitter
- p.Gly1066Ala Single submitter X-linked Alport syndrome
- p.Gly1069Asp Single submitter ⚠
- p.Gly1077fs Single submitter
- p.Gly1086Arg Single submitter
- p.Gly1098Val Single submitter
- p.Gly1113Arg Single submitter
- p.Gly111fs Single submitter
- p.Gly1125Arg Single submitter
- p.Gly1143Asp Single submitter X-linked Alport syndrome
- p.Gly1152fs Single submitter X-linked Alport syndrome
- p.Gly1161Arg Single submitter
- p.Gly1161Glu Single submitter X-linked Alport syndrome
- p.Gly1164Asp Single submitter
- p.Gly1167fs Single submitter X-linked Alport syndrome
- p.Gly1179Arg Single submitter
- p.Gly1196Glu Single submitter
- p.Gly1196Val Single submitter
- p.Gly1199Arg Single submitter X-linked Alport syndrome
- p.Gly1202Asp Single submitter
- p.Gly1205Ser Single submitter
- p.Gly1205Val Single submitter chronic kidney disease
- p.Gly1207fs Single submitter
- p.Gly1217Asp Single submitter X-linked Alport syndrome
- p.Gly1223Asp Single submitter
- p.Gly1223Ser Single submitter X-linked Alport syndrome
- p.Gly1232fs Single submitter X-linked Alport syndrome
- p.Gly1235Ala Single submitter
- p.Gly123Glu Single submitter
- p.Gly1241Asp Single submitter nephrotic syndrome
- p.Gly1258Ser Single submitter X-linked Alport syndrome
- p.Gly1261Glu Single submitter
- p.Gly1276Asp Single submitter
- p.Gly1312fs Single submitter X-linked Alport syndrome
- p.Gly1339Cys Single submitter
- p.Gly1339Ser Single submitter
- p.Gly1342Ter Single submitter X-linked Alport syndrome
- p.Gly1357Ter Single submitter
- p.Gly135Asp Single submitter
- p.Gly1360Asp Single submitter
- p.Gly1433Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly1448fs Single submitter
- p.Gly1448Ser Single submitter X-linked Alport syndrome
- p.Gly1454Arg Single submitter
- p.Gly1457Asp Single submitter Hematuria
- p.Gly1485fs Single submitter
- p.Gly1492Ala Single submitter
- p.Gly1492Ser Single submitter
- p.Gly150fs Single submitter
- p.Gly1510Arg Single submitter X-linked Alport syndrome
- p.Gly1624fs Single submitter
- p.Gly1642fs Single submitter X-linked Alport syndrome
- p.Gly1675Ter Single submitter
- p.Gly177Asp Single submitter X-linked Alport syndrome
- p.Gly177Cys Single submitter
- p.Gly186Arg Single submitter X-linked Alport syndrome
- p.Gly189fs Single submitter X-linked Alport syndrome
- p.Gly189Val Single submitter X-linked Alport syndrome
- p.Gly195Asp Single submitter X-linked Alport syndrome
- p.Gly201Asp Single submitter
- p.Gly201fs Single submitter X-linked Alport syndrome
- p.Gly207Cys Single submitter
- p.Gly210Glu Single submitter
Pathogenic/Likely pathogenic 157
- c.1032+1G>C Multiple submitters
- c.1033-2A>G Multiple submitters X-linked Alport syndrome
- c.1339+1G>A Multiple submitters X-linked Alport syndrome
- c.1424-20T>A Multiple submitters X-linked Alport syndrome
- c.1779+1G>A Multiple submitters
- c.2042-2A>G Multiple submitters X-linked Alport syndrome
- c.231+2T>C Multiple submitters X-linked Alport syndrome
- c.2510-2A>G Multiple submitters X-linked Alport syndrome
- c.275_276+2del Multiple submitters X-linked Alport syndrome
- c.3016+1G>A Multiple submitters X-linked Alport syndrome
- c.3017-2A>G Multiple submitters X-linked Alport syndrome
- c.321+1G>C Multiple submitters X-linked Alport syndrome
- c.3454+1G>C Multiple submitters X-linked Alport syndrome
- c.384+1G>A Multiple submitters X-linked Alport syndrome
- c.385-2A>G Multiple submitters COL4A5-related disorder
- c.385-2A>T Multiple submitters X-linked Alport syndrome
- c.4016-1G>A Multiple submitters X-linked Alport syndrome
- c.4087+1G>C Multiple submitters X-linked Alport syndrome
- c.4088-2A>G Multiple submitters X-linked Alport syndrome
- c.4217-1G>A Multiple submitters X-linked Alport syndrome
- c.439-1G>A Multiple submitters Hematuria
- c.4528+2T>C Multiple submitters X-linked Alport syndrome
- c.465+1G>C Multiple submitters X-linked Alport syndrome
- c.4994+1G>A Multiple submitters X-linked Alport syndrome
- c.4995-1G>T Multiple submitters X-linked Alport syndrome
- c.546+1G>A Multiple submitters Inborn genetic diseases
- c.609+875G>T Multiple submitters
- c.780+1G>A Multiple submitters X-linked Alport syndrome
- c.834+1G>A Multiple submitters X-linked Alport syndrome
- c.891+1G>T Multiple submitters X-linked Alport syndrome
- c.990+1G>T Multiple submitters
- p.? Multiple submitters X-linked Alport syndrome
- p.823PPG[1] Multiple submitters X-linked Alport syndrome
- p.Arg1569Gln Multiple submitters kidney disorder ⚠
- p.Arg1683Gln Multiple submitters X-linked Alport syndrome
- p.Asn670Ter Multiple submitters X-linked Alport syndrome
- p.Asp1540fs Multiple submitters X-linked Alport syndrome
- p.Asp989_Gly994del Multiple submitters X-linked Alport syndrome
- p.Cys1638Arg Multiple submitters X-linked Alport syndrome
- p.Cys1644Tyr Multiple submitters X-linked Alport syndrome
- p.Cys1684Tyr Multiple submitters X-linked Alport syndrome
- p.Gly1000Arg Multiple submitters X-linked Alport syndrome
- p.Gly1018Asp Multiple submitters X-linked Alport syndrome
- p.Gly1030Ser Multiple submitters Alport syndrome
- p.Gly1036Glu Multiple submitters X-linked Alport syndrome
- p.Gly1039Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly1098Asp Multiple submitters X-linked Alport syndrome
- p.Gly1116Arg Multiple submitters X-linked Alport syndrome
- p.Gly1116Glu Multiple submitters X-linked Alport syndrome
- p.Gly1116Val Multiple submitters X-linked Alport syndrome
- p.Gly1137Asp Multiple submitters X-linked Alport syndrome
- p.Gly1143Cys Multiple submitters COL4A5-related disorder
- p.Gly1143Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly1164Cys Multiple submitters
- p.Gly1170Cys Multiple submitters X-linked Alport syndrome
- p.Gly1196Arg Multiple submitters X-linked Alport syndrome
- p.Gly1196fs Multiple submitters X-linked Alport syndrome
- p.Gly1202Cys Multiple submitters Hematuria
- p.Gly1220Asp Multiple submitters X-linked Alport syndrome
- p.Gly1229Asp Multiple submitters X-linked Alport syndrome
- p.Gly1244Asp Multiple submitters X-linked Alport syndrome
- p.Gly1284Ter Multiple submitters X-linked Alport syndrome
- p.Gly1369fs Multiple submitters X-linked Alport syndrome
- p.Gly138Arg Multiple submitters
- p.Gly138Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly1439Asp Multiple submitters X-linked Alport syndrome
- p.Gly1454Ser Multiple submitters X-linked Alport syndrome
- p.Gly153Val Multiple submitters
- p.Gly1595Ter Multiple submitters X-linked Alport syndrome
- p.Gly171Arg Multiple submitters X-linked Alport syndrome
- p.Gly186Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly192Arg Multiple submitters X-linked Alport syndrome
- p.Gly195Val Multiple submitters X-linked Alport syndrome
- p.Gly204fs Multiple submitters X-linked Alport syndrome
- p.Gly207Arg Multiple submitters X-linked Alport syndrome
- p.Gly213Arg Multiple submitters X-linked Alport syndrome
- p.Gly230Val Multiple submitters Alport syndrome
- p.Gly267Arg Multiple submitters X-linked Alport syndrome
- p.Gly289Asp Multiple submitters X-linked Alport syndrome
- p.Gly295Asp Multiple submitters X-linked Alport syndrome
- p.Gly307Asp Multiple submitters COL4A5-related disorder
- p.Gly307Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly310Glu Multiple submitters X-linked Alport syndrome
- p.Gly313Arg Multiple submitters X-linked Alport syndrome
- p.Gly328Asp Multiple submitters X-linked Alport syndrome
- p.Gly334fs Multiple submitters X-linked Alport syndrome
- p.Gly365Glu Multiple submitters X-linked Alport syndrome
- p.Gly371Ter Multiple submitters
- p.Gly374Arg Multiple submitters X-linked Alport syndrome
- p.Gly380Arg Multiple submitters X-linked Alport syndrome
- p.Gly380Ser Multiple submitters X-linked Alport syndrome
- p.Gly397Val Multiple submitters X-linked Alport syndrome
- p.Gly409Val Multiple submitters X-linked Alport syndrome
- p.Gly426Arg Multiple submitters Inborn genetic diseases
- p.Gly429Glu Multiple submitters X-linked Alport syndrome
- p.Gly457Asp Multiple submitters X-linked Alport syndrome
- p.Gly497Asp Multiple submitters Hematuria
- p.Gly509Arg Multiple submitters X-linked Alport syndrome
- p.Gly536Asp Multiple submitters
- p.Gly548Asp Multiple submitters X-linked Alport syndrome
- p.Gly54Arg Multiple submitters X-linked Alport syndrome
- p.Gly558fs Multiple submitters X-linked Alport syndrome
- p.Gly564Arg Multiple submitters X-linked Alport syndrome
- p.Gly564Cys Multiple submitters X-linked Alport syndrome
- p.Gly576Asp Multiple submitters X-linked Alport syndrome
- p.Gly594Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly603Arg Multiple submitters
- p.Gly603Asp Multiple submitters X-linked Alport syndrome
- p.Gly621Asp Multiple submitters X-linked Alport syndrome
- p.Gly621Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly624Asp Multiple submitters Monogenic hearing loss ⚠
- p.Gly624Val Multiple submitters X-linked Alport syndrome ⚠
- p.Gly629Asp Multiple submitters X-linked Alport syndrome
- p.Gly632Val Multiple submitters
- p.Gly635Asp Multiple submitters
- p.Gly638Arg Multiple submitters X-linked Alport syndrome
- p.Gly650Asp Multiple submitters X-linked Alport syndrome
- p.Gly650Ser Multiple submitters X-linked Alport syndrome
- p.Gly653Arg Multiple submitters X-linked Alport syndrome
- p.Gly675_Asp676del Multiple submitters
- p.Gly675Asp Multiple submitters
- p.Gly675Ser Multiple submitters X-linked Alport syndrome
- p.Gly705fs Multiple submitters X-linked Alport syndrome
- p.Gly737Asp Multiple submitters X-linked Alport syndrome
- p.Gly746Glu Multiple submitters X-linked Alport syndrome
- p.Gly763Glu Multiple submitters X-linked Alport syndrome
- p.Gly772Ser Multiple submitters X-linked Alport syndrome
- p.Gly772Val Multiple submitters X-linked Alport syndrome
- p.Gly775Ser Multiple submitters X-linked Alport syndrome
- p.Gly778Ser Multiple submitters X-linked Alport syndrome
- p.Gly802Arg Multiple submitters X-linked Alport syndrome
- p.Gly805Glu Multiple submitters
- p.Gly822Arg Multiple submitters Alport syndrome
- p.Gly822Val Multiple submitters X-linked Alport syndrome
- p.Gly825Arg Multiple submitters X-linked Alport syndrome
- p.Gly825Glu Multiple submitters X-linked Alport syndrome
- p.Gly831Glu Multiple submitters X-linked Alport syndrome
- p.Gly869Arg Multiple submitters X-linked Alport syndrome
- p.Gly869fs Multiple submitters X-linked Alport syndrome
- p.Gly878Ala Multiple submitters X-linked Alport syndrome ⚠
- p.Gly893Val Multiple submitters X-linked Alport syndrome
- p.Gly896Ser Multiple submitters X-linked Alport syndrome
- p.Gly899Asp Multiple submitters X-linked Alport syndrome
- p.Gly911Glu Multiple submitters COL4A5-related disorder
- p.Gly935Asp Multiple submitters X-linked Alport syndrome
- p.Gly988Ter Multiple submitters X-linked Alport syndrome
- p.Leu1655Arg Multiple submitters Alport syndrome
- p.Met1607Ile Multiple submitters
- p.Pro1132_Gly1140del Multiple submitters X-linked Alport syndrome
- p.Pro149fs Multiple submitters X-linked Alport syndrome
- p.Pro312fs Multiple submitters X-linked Alport syndrome
- p.Pro765fs Multiple submitters
- p.Trp1544Ter Multiple submitters X-linked Alport syndrome
- p.Trp1654Ter Multiple submitters X-linked Alport syndrome
- p.Trp20Ter Multiple submitters X-linked Alport syndrome
- p.Tyr1603Cys Multiple submitters X-linked Alport syndrome
- p.Tyr983Ter Multiple submitters X-linked Alport syndrome
Likely pathogenic 654
Showing the top 300 by review status; the full set is in the sitemap.
- c.2509+1G>T Multiple submitters X-linked Alport syndrome
- c.321+1G>A Multiple submitters COL4A5-related disorder
- c.4707-1G>A Multiple submitters X-linked Alport syndrome
- c.687+5G>A Multiple submitters X-linked Alport syndrome
- p.758PPG[1] Multiple submitters X-linked Alport syndrome
- p.Cys481Ter Multiple submitters X-linked Alport syndrome
- p.Gln235Ter Multiple submitters X-linked Alport syndrome
- p.Gly1057Glu Multiple submitters COL4A5-related disorder
- p.Gly105Ala Multiple submitters X-linked Alport syndrome
- p.Gly1104Asp Multiple submitters X-linked Alport syndrome
- p.Gly1122Glu Multiple submitters X-linked Alport syndrome
- p.Gly1137Cys Multiple submitters X-linked Alport syndrome
- p.Gly1146Glu Multiple submitters X-linked Alport syndrome
- p.Gly1149Arg Multiple submitters X-linked Alport syndrome
- p.Gly1158Glu Multiple submitters X-linked Alport syndrome
- p.Gly120Asp Multiple submitters X-linked Alport syndrome
- p.Gly1214Arg Multiple submitters X-linked Alport syndrome
- p.Gly1229Ala Multiple submitters X-linked Alport syndrome ⚠
- p.Gly1270Asp Multiple submitters X-linked Alport syndrome
- p.Gly1273Ser Multiple submitters X-linked Alport syndrome
- p.Gly1282Arg Multiple submitters X-linked Alport syndrome
- p.Gly1300Ser Multiple submitters Alport syndrome ⚠
- p.Gly1303Cys Multiple submitters X-linked Alport syndrome
- p.Gly1333Arg Multiple submitters X-linked Alport syndrome
- p.Gly1354Arg Multiple submitters X-linked Alport syndrome
- p.Gly1357Glu Multiple submitters X-linked Alport syndrome
- p.Gly135Val Multiple submitters Inborn genetic diseases
- p.Gly1391Val Multiple submitters X-linked Alport syndrome
- p.Gly141Asp Multiple submitters X-linked Alport syndrome
- p.Gly1424Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly1442Asp Multiple submitters X-linked Alport syndrome
- p.Gly1451Glu Multiple submitters Alport syndrome
- p.Gly1492Val Multiple submitters X-linked Alport syndrome
- p.Gly171Cys Multiple submitters X-linked Alport syndrome
- p.Gly204Ser Multiple submitters X-linked Alport syndrome
- p.Gly213Glu Multiple submitters X-linked Alport syndrome
- p.Gly236Ser Multiple submitters COL4A5-related disorder
- p.Gly273Glu Multiple submitters COL4A5-related disorder
- p.Gly276Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly301Asp Multiple submitters
- p.Gly304Glu Multiple submitters X-linked Alport syndrome
- p.Gly313Cys Multiple submitters X-linked Alport syndrome
- p.Gly319Asp Multiple submitters X-linked Alport syndrome
- p.Gly322Val Multiple submitters X-linked Alport syndrome
- p.Gly386Arg Multiple submitters X-linked Alport syndrome
- p.Gly457Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly494Arg Multiple submitters X-linked Alport syndrome
- p.Gly503Val Multiple submitters
- p.Gly509Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly51Arg Multiple submitters X-linked Alport syndrome
- p.Gly561Val Multiple submitters X-linked Alport syndrome
- p.Gly588Ser Multiple submitters
- p.Gly644Cys Multiple submitters X-linked Alport syndrome
- p.Gly702Arg Multiple submitters X-linked Alport syndrome
- p.Gly702Asp Multiple submitters
- p.Gly728Glu Multiple submitters X-linked Alport syndrome
- p.Gly743Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly778Arg Multiple submitters X-linked Alport syndrome
- p.Gly814Arg Multiple submitters X-linked Alport syndrome
- p.Gly828Arg Multiple submitters X-linked Alport syndrome
- p.Gly908Glu Multiple submitters X-linked Alport syndrome
- p.Gly929Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly932Arg Multiple submitters X-linked Alport syndrome
- p.Gly941Arg Multiple submitters X-linked Alport syndrome
- p.Gly950Arg Multiple submitters X-linked Alport syndrome
- p.Gly970Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Gly99Arg Multiple submitters X-linked Alport syndrome
- p.Leu1025_Gly1027del Multiple submitters X-linked Alport syndrome
- p.Lys128= Multiple submitters X-linked Alport syndrome
- p.Lys1341Ter Multiple submitters X-linked Alport syndrome
- p.Pro1590Leu Multiple submitters X-linked Alport syndrome
- c.1031_1032+2del Single submitter
- c.1033-10G>A Single submitter X-linked Alport syndrome
- c.1166-1G>A Single submitter Hematuria
- c.1168delG Single submitter COL4A5-related disorder
- c.1339+1G>C Single submitter X-linked Alport syndrome
- c.1339+2T>A Single submitter
- c.1339+2T>C Single submitter
- c.1340-1G>A Single submitter
- c.142_143dupGG Single submitter COL4A5-related disorder
- c.1424-2A>G Single submitter
- c.1588-1G>C Single submitter X-linked Alport syndrome
- c.1588-2A>T Single submitter
- c.1588-6T>G Single submitter X-linked Alport syndrome
- c.1777_1779+5del Single submitter
- c.1779+4_1779+8del Single submitter X-linked Alport syndrome
- c.1949-3_1949delinsAGGATCCCCTGGA Single submitter X-linked Alport syndrome
- c.2244+2T>C Single submitter
- c.231+1G>T Single submitter X-linked Alport syndrome
- c.2395+3A>G Single submitter X-linked Alport syndrome
- c.2396-1G>A Single submitter X-linked Alport syndrome
- c.2396-5_2396-1dup Single submitter X-linked Alport syndrome
- c.2509_2509+1delinsTT Single submitter X-linked Alport syndrome
- c.2510-1_2514del Single submitter X-linked Alport syndrome
- c.2510-1G>A Single submitter
- c.2677+1G>A Single submitter
- c.2678-1G>T Single submitter X-linked Alport syndrome
- c.276+1G>A Single submitter
- c.276+1G>C Single submitter
- c.276+3A>C Single submitter X-linked Alport syndrome
- c.2767+2T>G Single submitter X-linked Alport syndrome
- c.3016+2T>C Single submitter X-linked Alport syndrome
- c.3106+1G>A Single submitter X-linked Alport syndrome
- c.3107-1G>A Single submitter COL4A5-related disorder
- c.3107-4A>G Single submitter
- c.(3373+1_3374-1 Single submitter X-linked Alport syndrome
- c.3373+2T>C Single submitter
- c.3374-3T>G Single submitter X-linked Alport syndrome
- c.3447_3454+5del Single submitter X-linked Alport syndrome
- c.3553+1G>A Single submitter X-linked Alport syndrome
- c.3553+1G>C Single submitter
- c.3553+1G>T Single submitter X-linked Alport syndrome
- c.3554-2A>G Single submitter X-linked Alport syndrome
- c.3554-3C>G Single submitter COL4A5-related disorder
- c.385-2A>C Single submitter X-linked Alport syndrome
- c.3942_3942+1del Single submitter
- c.3943-1G>A Single submitter
- c.3943-1G>C Single submitter X-linked Alport syndrome
- c.4016-2A>T Single submitter X-linked Alport syndrome
- c.4217-1G>C Single submitter X-linked Alport syndrome
- c.4315+1G>C Single submitter X-linked Alport syndrome
- c.4316-20T>A Single submitter X-linked Alport syndrome
- c.438+2T>C Single submitter X-linked Alport syndrome
- c.438+5G>A Single submitter
- c.439-2A>C Single submitter
- c.439-2A>G Single submitter X-linked Alport syndrome
- c.439-7A>G Single submitter
- c.465+2_465+6del Single submitter X-linked Alport syndrome
- c.466-12G>A Single submitter X-linked Alport syndrome
- c.4703_4706+3del Single submitter
- c.4994+2T>C Single submitter X-linked Alport syndrome
- c.645+1G>T Single submitter X-linked Alport syndrome
- c.645+2T>C Single submitter
- c.645+3_645+36del Single submitter X-linked Alport syndrome
- c.646-4_646-2delinsTCT Single submitter X-linked Alport syndrome
- c.780+1G>T Single submitter X-linked Alport syndrome
- c.780+2T>C Single submitter X-linked Alport syndrome
- c.81+2T>G Single submitter X-linked Alport syndrome
- c.81+4A>C Single submitter
- c.834+1G>T Single submitter X-linked Alport syndrome
- c.834+5G>A Single submitter
- c.835-1G>C Single submitter
- c.835-2A>G Single submitter X-linked Alport syndrome
- c.891_891+1del Single submitter X-linked Alport syndrome
- c.891+2del Single submitter
- c.937-1G>A Single submitter
- c.938del Single submitter X-linked Alport syndrome
- c.990+1G>A Single submitter X-linked Alport syndrome
- c.991-14A>G Single submitter
- c.991-1G>A Single submitter X-linked Alport syndrome
- c.991-7T>A Single submitter X-linked Alport syndrome
- p.Ala1613fs Single submitter
- p.Ala1656Glu Single submitter X-linked Alport syndrome
- p.Arg1262fs Single submitter X-linked Alport syndrome
- p.Arg1262Ter Single submitter X-linked Alport syndrome
- p.Arg1319fs Single submitter X-linked Alport syndrome
- p.Arg1503fs Single submitter X-linked Alport syndrome
- p.Arg1569Pro Single submitter X-linked Alport syndrome
- p.Arg1631fs Single submitter X-linked Alport syndrome
- p.Arg249Ter Single submitter X-linked Alport syndrome
- p.Arg74fs Single submitter X-linked Alport syndrome
- p.Asn1253fs Single submitter X-linked Alport syndrome
- p.Asn1292fs Single submitter
- p.Asn1316fs Single submitter X-linked Alport syndrome
- p.Asn172fs Single submitter X-linked Alport syndrome
- p.Asn616_Gly618del Single submitter Hematuria
- p.Asp1102fs Single submitter X-linked Alport syndrome
- p.Asp1450_Pro1458del Single submitter X-linked Alport syndrome
- p.Asp317fs Single submitter X-linked Alport syndrome
- p.Asp654fs Single submitter X-linked Alport syndrome
- p.Cys1482Gly Single submitter X-linked Alport syndrome
- p.Cys1482Ter Single submitter X-linked Alport syndrome
- p.Cys1527Trp Single submitter X-linked Alport syndrome
- p.Cys1527Tyr Single submitter X-linked Alport syndrome
- p.Cys1533Phe Single submitter X-linked Alport syndrome
- p.Cys1533Ter Single submitter X-linked Alport syndrome
- p.Cys1570Phe Single submitter X-linked Alport syndrome
- p.Cys1573Tyr Single submitter X-linked Alport syndrome
- p.Cys1638Tyr Single submitter
- p.Cys1684Gly Single submitter
- p.Gln1314fs Single submitter X-linked Alport syndrome
- p.Gln1437Ter Single submitter X-linked Alport syndrome
- p.Gln143Ter Single submitter X-linked Alport syndrome
- p.Gln1475Ter Single submitter X-linked Alport syndrome
- p.Gln1588Ter Single submitter X-linked Alport syndrome
- p.Gln232Ter Single submitter X-linked Alport syndrome
- p.Gln495fs Single submitter X-linked Alport syndrome
- p.Gln76His Single submitter X-linked Alport syndrome ⚠
- p.Gln821fs Single submitter X-linked Alport syndrome
- p.Gln998Ter Single submitter X-linked Alport syndrome
- p.Glu1289Ter Single submitter X-linked Alport syndrome
- p.Glu1353Ter Single submitter X-linked Alport syndrome
- p.Glu157Ter Single submitter X-linked Alport syndrome
- p.Glu1628fs Single submitter X-linked Alport syndrome
- p.Glu1629Ter Single submitter X-linked Alport syndrome
- p.Glu228fs Single submitter X-linked Alport syndrome
- p.Glu287fs Single submitter X-linked Alport syndrome
- p.Gly1003Val Single submitter X-linked Alport syndrome
- p.Gly1006Asp Single submitter
- p.Gly1012Cys Single submitter X-linked Alport syndrome
- p.Gly1015Ter Single submitter X-linked Alport syndrome
- p.Gly1018Ser Single submitter ⚠
- p.Gly1018Val Single submitter X-linked Alport syndrome
- p.Gly1021Arg Single submitter X-linked Alport syndrome
- p.Gly1021Ile Single submitter
- p.Gly1024Arg Single submitter X-linked Alport syndrome
- p.Gly1027Arg Single submitter
- p.Gly1027Glu Single submitter
- p.Gly1030del Single submitter
- p.Gly1030fs Single submitter
- p.Gly1030Val Single submitter
- p.Gly1033Val Single submitter X-linked Alport syndrome
- p.Gly1039Cys Single submitter COL4A5-related disorder
- p.Gly1045Val Single submitter X-linked Alport syndrome
- p.Gly1051Ter Single submitter X-linked Alport syndrome
- p.Gly1051Val Single submitter X-linked Alport syndrome
- p.Gly1057Arg Single submitter
- p.Gly105Asp Single submitter
- p.Gly1060fs Single submitter X-linked Alport syndrome
- p.Gly1063Ala Single submitter
- p.Gly1080Arg Single submitter
- p.Gly1086Val Single submitter
- p.Gly1092Glu Single submitter X-linked Alport syndrome
- p.Gly1095Val Single submitter X-linked Alport syndrome
- p.Gly1098Ala Single submitter X-linked Alport syndrome
- p.Gly1104Cys Single submitter
- p.Gly1104Ser Single submitter ⚠
- p.Gly1107Glu Single submitter
- p.Gly1110Glu Single submitter X-linked Alport syndrome
- p.Gly1110Val Single submitter X-linked Alport syndrome
- p.Gly1119Asp Single submitter X-linked Alport syndrome
- p.Gly1134Arg Single submitter X-linked Alport syndrome
- p.Gly1134Asp Single submitter
- p.Gly1134Cys Single submitter X-linked Alport syndrome
- p.Gly1134fs Single submitter X-linked Alport syndrome
- p.Gly1134Ser Single submitter
- p.Gly1146Arg Single submitter
- p.Gly1146fs Single submitter X-linked Alport syndrome
- p.Gly1149Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly114Arg Single submitter
- p.Gly1152Cys Single submitter ⚠
- p.Gly1154Ter Single submitter X-linked Alport syndrome
- p.Gly1167Ala Single submitter X-linked Alport syndrome
- p.Gly1167Asp Single submitter
- p.Gly1167Ser Single submitter X-linked Alport syndrome
- p.Gly1170Arg Single submitter X-linked Alport syndrome
- p.Gly1170Asp Single submitter X-linked Alport syndrome
- p.Gly1170Val Single submitter
- p.Gly1176Arg Single submitter
- p.Gly1179Ala Single submitter
- p.Gly1179Ter Single submitter X-linked Alport syndrome
- p.Gly1179Val Single submitter
- p.Gly1182Asp Single submitter X-linked Alport syndrome
- p.Gly1185Arg Single submitter Alport syndrome
- p.Gly1193Glu Single submitter X-linked Alport syndrome
- p.Gly1202Val Single submitter
- p.Gly1207Ter Single submitter X-linked Alport syndrome
- p.Gly1208Arg Single submitter X-linked Alport syndrome
- p.Gly1208Glu Single submitter X-linked Alport syndrome
- p.Gly1211Glu Single submitter X-linked Alport syndrome
- p.Gly1220Val Single submitter
- p.Gly1229Cys Single submitter X-linked Alport syndrome
- p.Gly1229Val Single submitter
- p.Gly1232Asp Single submitter
- p.Gly1235Cys Single submitter Alport syndrome
- p.Gly1235Ser Single submitter X-linked Alport syndrome
- p.Gly1238Asp Single submitter
- p.Gly1238Val Single submitter
- p.Gly123Arg Single submitter X-linked Alport syndrome
- p.Gly123Ter Single submitter X-linked Alport syndrome
- p.Gly1241Ala Single submitter X-linked Alport syndrome ⚠
- p.Gly1241Arg Single submitter
- p.Gly1241Ser Single submitter ⚠
- p.Gly1244Arg Single submitter
- p.Gly1244Ser Single submitter ⚠
- p.Gly1252Asp Single submitter
- p.Gly1252Ser Single submitter
- p.Gly1258Asp Single submitter
- p.Gly1258Val Single submitter X-linked Alport syndrome
- p.Gly1261Arg Single submitter
- p.Gly1261fs Single submitter X-linked Alport syndrome
- p.Gly1264Val Single submitter X-linked Alport syndrome
- p.Gly1267Asp Single submitter X-linked Alport syndrome
- p.Gly1270Val Single submitter
- p.Gly1273Cys Single submitter X-linked Alport syndrome
- p.Gly1276Val Single submitter
- p.Gly1282Glu Single submitter X-linked Alport syndrome
- p.Gly1291Ter Single submitter X-linked Alport syndrome
- p.Gly1297Val Single submitter
- p.Gly129Glu Single submitter X-linked Alport syndrome
- p.Gly1303Asp Single submitter Hematuria
- p.Gly1306Val Single submitter
- p.Gly1315Val Single submitter
- p.Gly1324Arg Single submitter
- p.Gly1324Glu Single submitter
- p.Gly1327Ter Single submitter X-linked Alport syndrome
- p.Gly132Arg Single submitter
- p.Gly1330Ala Single submitter ⚠
- p.Gly1333Ala Single submitter X-linked Alport syndrome ⚠
- p.Gly1339Asp Single submitter
Conflicting classifications of pathogenicity 133
- c.1032+3_1032+6del Single submitter Inborn genetic diseases
- c.1033-6A>G Single submitter X-linked Alport syndrome
- c.1588-10C>G Single submitter X-linked Alport syndrome
- c.2245-9A>G Single submitter X-linked Alport syndrome
- c.231+3A>G Single submitter X-linked Alport syndrome
- c.2767+4A>G Single submitter COL4A5-related disorder
- c.2768-10T>C Single submitter X-linked Alport syndrome
- c.3374-11C>A Single submitter
- c.3374-13C>G Single submitter
- c.4529-345A>G Single submitter X-linked Alport syndrome
- c.547-11C>G Single submitter
- c.646-6C>G Single submitter X-linked Alport syndrome
- c.-25_-8dup Single submitter X-linked Alport syndrome
- p.Ala1581Ser Single submitter X-linked Alport syndrome ⚠
- p.Arg1416Cys Single submitter X-linked Alport syndrome ⚠
- p.Arg1428Cys Single submitter X-linked Alport syndrome ⚠
- p.Arg1428His Single submitter X-linked Alport syndrome ⚠
- p.Arg1472Pro Single submitter X-linked Alport syndrome
- p.Arg1517His Single submitter ⚠
- p.Arg1631Cys Single submitter Inborn genetic diseases ⚠
- p.Arg266Gly Single submitter X-linked Alport syndrome ⚠
- p.Arg275Cys Single submitter Inborn genetic diseases ⚠
- p.Arg275His Single submitter Inborn genetic diseases ⚠
- p.Arg348Lys Single submitter Inborn genetic diseases ⚠
- p.Arg373Ter Single submitter COL4A5-related disorder ⚠
- p.Arg777Pro Single submitter X-linked Alport syndrome ⚠
- p.Arg788Cys Single submitter X-linked Alport syndrome ⚠
- p.Asp113Asn Single submitter X-linked Alport syndrome ⚠
- p.Cys1482Tyr Single submitter X-linked Alport syndrome ⚠
- p.Cys1515Arg Single submitter X-linked Alport syndrome ⚠
- p.Cys1527Ser Single submitter X-linked Alport syndrome ⚠
- p.Cys1644Arg Single submitter Hematuria ⚠
- p.Gln1038= Single submitter X-linked Alport syndrome
- p.Gln1052Pro Single submitter X-linked Alport syndrome ⚠
- p.Gln1203= Single submitter
- p.Gln1308Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1373Lys Single submitter X-linked Alport syndrome ⚠
- p.Gln22= Single submitter kidney disorder
- p.Gln637Lys Single submitter Inborn genetic diseases ⚠
- p.Gln835= Single submitter X-linked Alport syndrome
- p.Glu1084Ala Single submitter hearing loss disorder ⚠
- p.Glu1165Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1000Val Single submitter X-linked Alport syndrome ⚠
- p.Gly1039Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly1170Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1185Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly1188Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly120Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly1238Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly1285Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly1300Ala Single submitter Inborn genetic diseases ⚠
- p.Gly1382Ala Single submitter ⚠
- p.Gly1388Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly1403Ser Single submitter ⚠
- p.Gly1445Val Single submitter X-linked Alport syndrome ⚠
- p.Gly1513= Single submitter
- p.Gly159Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly159Ser Single submitter Inborn genetic diseases ⚠
- p.Gly171Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly177Ala Single submitter ⚠
- p.Gly183Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly213= Single submitter
- p.Gly216Arg Single submitter ⚠
- p.Gly224Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly313Val Single submitter X-linked Alport syndrome ⚠
- p.Gly409Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly412Glu Single submitter X-linked Alport syndrome ⚠
- p.Gly42Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly626Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly626Val Single submitter X-linked Alport syndrome ⚠
- p.Gly656Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly656Ser Single submitter Hematuria ⚠
- p.Gly702Val Single submitter X-linked Alport syndrome ⚠
- p.Gly722Glu Single submitter X-linked Alport syndrome ⚠
- p.Gly734Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly766Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly893Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly908Ala Single submitter X-linked Alport syndrome ⚠
- p.Gly917Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly926Val Single submitter X-linked Alport syndrome ⚠
- p.Gly953Val Single submitter kidney disorder ⚠
- p.Gly961Val Single submitter ⚠
- p.His58Tyr Single submitter X-linked Alport syndrome ⚠
- p.Ile1020Thr Single submitter Inborn genetic diseases ⚠
- p.Ile1135Val Single submitter X-linked Alport syndrome ⚠
- p.Ile1359Thr Single submitter ⚠
- p.Ile244Phe Single submitter ⚠
- p.Ile659Val Single submitter Inborn genetic diseases ⚠
- p.Ile706Val Single submitter Inborn genetic diseases ⚠
- p.Leu1078Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1280Phe Single submitter X-linked Alport syndrome ⚠
- p.Leu791Val Single submitter Inborn genetic diseases ⚠
- p.Lys1008Arg Single submitter Inborn genetic diseases ⚠
- p.Lys330Asn Single submitter X-linked Alport syndrome ⚠
- p.Lys44Asn Single submitter Inborn genetic diseases ⚠
- p.Lys599= Single submitter X-linked Alport syndrome
- p.Lys664_Gly669dup Single submitter X-linked Alport syndrome
- p.Lys748= Single submitter X-linked Alport syndrome
- p.Met1032Thr Single submitter Inborn genetic diseases ⚠
- p.Met1553Ile Single submitter kidney disorder ⚠
- p.Met898Val Single submitter X-linked Alport syndrome ⚠
- p.Met955Ile Single submitter ⚠
- p.Pro1023Thr Single submitter Inborn genetic diseases ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro1194Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1277Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1296Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1320Ser Single submitter X-linked Alport syndrome ⚠
- p.Pro1335Ser Single submitter ⚠
- p.Pro1356Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1383Leu Single submitter Inborn genetic diseases ⚠
- p.Pro145Ser Single submitter Inborn genetic diseases ⚠
- p.Pro148Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1523Thr Single submitter ⚠
- p.Pro1548Leu Single submitter Inborn genetic diseases ⚠
- p.Pro185= Single submitter
- p.Pro294Ser Single submitter Inborn genetic diseases ⚠
- p.Pro300Leu Single submitter X-linked Alport syndrome ⚠
- p.Pro347Leu Single submitter Inborn genetic diseases ⚠
- p.Pro605Thr Single submitter Inborn genetic diseases ⚠
- p.Pro739Ala Single submitter X-linked Alport syndrome ⚠
- p.Pro739His Single submitter ⚠
- p.Pro765= Single submitter
- p.Pro783Leu Single submitter COL4A5-related disorder ⚠
- p.Pro797Ser Single submitter Inborn genetic diseases ⚠
- p.Pro816Ser Single submitter X-linked Alport syndrome ⚠
- p.Pro88Ser Single submitter X-linked Alport syndrome ⚠
- p.Pro906Arg Single submitter Inborn genetic diseases ⚠
- p.Ser1047= Single submitter
- p.Ser1099Phe Single submitter X-linked Alport syndrome ⚠
- p.Thr1461Asn Single submitter Inborn genetic diseases ⚠
- p.Thr658Pro Single submitter Inborn genetic diseases ⚠
- p.Tyr30Cys Single submitter X-linked Alport syndrome ⚠
Benign 128
- c.1032+17dup Multiple submitters X-linked Alport syndrome
- c.1032+25G>A Multiple submitters X-linked Alport syndrome
- c.1033-72C>T Multiple submitters X-linked Alport syndrome
- c.1587+136A>G Multiple submitters X-linked Alport syndrome
- c.1780-247G>A Multiple submitters
- c.2041+65A>G Multiple submitters
- c.2245-144C>T Multiple submitters
- c.2509+145T>A Multiple submitters
- c.2768-11A>G Multiple submitters X-linked Alport syndrome
- c.3107-100G>A Multiple submitters
- c.3553+42T>C Multiple submitters
- c.3809-6A>G Multiple submitters
- c.3943-17T>G Multiple submitters
- c.438+36G>T Multiple submitters X-linked Alport syndrome
- c.4994+12A>G Multiple submitters
- c.609+21T>C Multiple submitters X-linked Alport syndrome
- c.891+37A>G Multiple submitters X-linked Alport syndrome
- c.991-174C>A Multiple submitters
- p.Asn1010Ser Multiple submitters kidney disorder
- p.Asp1431= Multiple submitters X-linked Alport syndrome
- p.Asp303= Multiple submitters X-linked Alport syndrome
- p.Gln1171= Multiple submitters X-linked Alport syndrome
- p.Gln260Arg Multiple submitters X-linked Alport syndrome
- p.Gly1173= Multiple submitters kidney disorder
- p.Leu528= Multiple submitters X-linked Alport syndrome
- p.Leu685= Multiple submitters X-linked Alport syndrome
- p.Lys664Asn Multiple submitters atypical hemolytic-uremic syndrome
- p.Pro783= Multiple submitters X-linked Alport syndrome
- c.1032+11T>A Single submitter
- c.1032+17T>C Single submitter
- c.1165+241del Single submitter
- c.1165+298C>A Single submitter
- c.1165+7G>A Single submitter
- c.1166-19T>G Single submitter
- c.1339+10A>G Single submitter
- c.1587+19A>T Single submitter
- c.1948+11del Single submitter
- c.1948+168del Single submitter
- c.1948+894C>T Single submitter
- c.2041+60_2041+61del Single submitter
- c.2041+61del Single submitter
- c.2041+61dup Single submitter
- c.2244+15del Single submitter
- c.2244+214_2244+216del Single submitter
- c.2245-231dup Single submitter
- c.2395+213T>G Single submitter
- c.2395+2886C>T Single submitter
- c.2395+3072A>G Single submitter
- c.2509+17T>C Single submitter
- c.2918-168G>A Single submitter
- c.3016+176T>C Single submitter
- c.3016+230del Single submitter
- c.3107-12T>C Single submitter
- c.3107-15A>T Single submitter
- c.322-12C>T Single submitter
- c.3246+15A>G Single submitter
- c.3373+36T>C Single submitter
- c.3374-274T>C Single submitter
- c.3455-17T>A Single submitter
- c.3553+20T>C Single submitter
- c.3605-8T>G Single submitter
- c.3605-9C>T Single submitter
- c.3808+24C>T Single submitter
- c.3808+41_3808+42del Single submitter
- c.3808+42del Single submitter
- c.3808+42dup Single submitter
- c.385-987_385-978del Single submitter
- c.4016-18dup Single submitter
- c.4016-9del Single submitter
- c.4087+6A>T Single submitter X-linked Alport syndrome
- c.4216+10C>T Single submitter
- c.4217-6C>T Single submitter X-linked Alport syndrome
- c.4316-10G>A Single submitter
- c.4316-11C>T Single submitter
- c.4529-2383T>C Single submitter
- c.4821+14T>A Single submitter
- c.4822-152dup Single submitter
- c.609+173_609+176del Single submitter
- c.610-229C>T Single submitter
- c.610-305T>A Single submitter
- c.687+16G>C Single submitter
- c.688-11C>T Single submitter
- c.688-14T>C Single submitter
- c.780+14G>C Single submitter
- c.81+128T>C Single submitter
- c.81+74_81+75dup Single submitter
- c.81+75dup Single submitter
- c.82-212C>T Single submitter
- c.834+14G>A Single submitter
- c.834+8C>A Single submitter X-linked Alport syndrome
- c.891+83_891+84insACTT Single submitter
- c.937-11A>G Single submitter
- c.937-170del Single submitter
- c.937-171_937-170del Single submitter
- c.990+11dup Single submitter
- c.991-196C>T Single submitter
- p.Ala1246Ser Single submitter
- p.Ala1621Val Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Asp1423Asn Single submitter
- p.Asp1659Glu Single submitter
- p.Gln1481= Single submitter
- p.Gln1668= Single submitter
- p.Glu287= Single submitter X-linked Alport syndrome
- p.Gly11= Single submitter
- p.Gly1223= Single submitter
- p.Gly1492= Single submitter
- p.Gly331= Single submitter
- p.Gly432= Single submitter X-linked Alport syndrome
- p.Gly48= Single submitter
- p.His112= Single submitter
- p.His1156= Single submitter X-linked Alport syndrome
- p.Ile121Val Single submitter
- p.Ile1375= Single submitter
- p.Ile194Val Single submitter X-linked Alport syndrome
- p.Ile450Met Single submitter X-linked Alport syndrome ⚠
- p.Ile703Val Single submitter X-linked Alport syndrome ⚠
- p.Leu1495= Single submitter
- p.Pro1194= Single submitter
- p.Pro122= Single submitter
- p.Pro1277Thr Single submitter X-linked Alport syndrome ⚠
- p.Pro1343Leu Single submitter ⚠
- p.Pro1447= Single submitter
- p.Pro529Gln Single submitter X-linked Alport syndrome ⚠
- p.Pro604Thr Single submitter X-linked Alport syndrome
- p.Pro71= Single submitter X-linked Alport syndrome
- p.Ser1610Gly Single submitter ⚠
- p.Tyr30= Single submitter
Benign/Likely benign 54
- c.1032+17del Multiple submitters X-linked Alport syndrome
- c.1033-15del Multiple submitters X-linked Alport syndrome
- c.1588-13T>G Multiple submitters X-linked Alport syndrome
- c.2147-12A>G Multiple submitters X-linked Alport syndrome
- c.2244+9C>T Multiple submitters X-linked Alport syndrome
- c.232-17A>C Multiple submitters
- c.276+69T>C Multiple submitters X-linked Alport syndrome
- c.2917+18T>C Multiple submitters X-linked Alport syndrome
- c.3107-11A>T Multiple submitters
- c.322-18T>C Multiple submitters
- c.3247-10G>A Multiple submitters X-linked Alport syndrome
- c.3604+19T>A Multiple submitters
- c.4015+5T>C Multiple submitters X-linked Alport syndrome
- c.4016-16T>G Multiple submitters X-linked Alport syndrome
- c.4315+9A>T Multiple submitters X-linked Alport syndrome
- c.4529-6T>C Multiple submitters X-linked Alport syndrome
- c.465+12A>T Multiple submitters
- c.546+15A>T Multiple submitters
- c.646-6C>T Multiple submitters X-linked Alport syndrome
- c.81+75del Multiple submitters
- c.892-16del Multiple submitters X-linked Alport syndrome
- p.363LPG[1] Multiple submitters X-linked Alport syndrome
- p.Ala430Asp Multiple submitters X-linked Alport syndrome ⚠
- p.Arg1319= Multiple submitters
- p.Arg1416His Multiple submitters X-linked Alport syndrome ⚠
- p.Arg673Gly Multiple submitters X-linked Alport syndrome ⚠
- p.Arg788His Multiple submitters Inborn genetic diseases ⚠
- p.Asp425= Multiple submitters
- p.Asp800= Multiple submitters X-linked Alport syndrome
- p.Gln1257= Multiple submitters X-linked Alport syndrome
- p.Gln1437Glu Multiple submitters X-linked Alport syndrome
- p.Gly1104= Multiple submitters X-linked Alport syndrome
- p.Gly1119= Multiple submitters X-linked Alport syndrome
- p.Gly1403= Multiple submitters X-linked Alport syndrome
- p.Gly1500= Multiple submitters kidney disorder
- p.Gly822= Multiple submitters X-linked Alport syndrome
- p.Gly840= Multiple submitters
- p.Gly857= Multiple submitters X-linked Alport syndrome
- p.Ile444Ser Multiple submitters X-linked Alport syndrome
- p.Leu1358Ile Multiple submitters Alport syndrome ⚠
- p.Leu933Phe Multiple submitters X-linked Alport syndrome
- p.Met163Thr Multiple submitters X-linked Alport syndrome
- p.Pro1050Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Pro1320= Multiple submitters
- p.Pro396Leu Multiple submitters X-linked Alport syndrome ⚠
- p.Pro499= Multiple submitters X-linked Alport syndrome
- p.Pro993= Multiple submitters X-linked Alport syndrome
- p.Ser136Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser490Leu Multiple submitters X-linked Alport syndrome
- p.Thr1408Ser Multiple submitters X-linked Alport syndrome
- p.Thr1671Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr660Ile Multiple submitters X-linked Alport syndrome
- p.Tyr1090His Multiple submitters X-linked Alport syndrome
- p.Val345= Multiple submitters
Likely benign 831
Showing the top 300 by review status; the full set is in the sitemap.
- c.1423+10C>T Multiple submitters X-linked Alport syndrome
- c.1588-16T>C Multiple submitters
- c.2042-5C>T Multiple submitters
- c.2395+4T>C Multiple submitters
- c.2509+98A>G Multiple submitters
- c.2678-16T>C Multiple submitters
- c.2917+17A>G Multiple submitters
- c.3107-97G>C Multiple submitters
- c.3246+131C>G Multiple submitters
- c.3373+137A>C Multiple submitters
- c.3605-11T>C Multiple submitters
- c.385-97G>A Multiple submitters
- c.4216+7A>G Multiple submitters
- c.4707-36C>A Multiple submitters
- c.892-4A>G Multiple submitters X-linked Alport syndrome
- c.991-7T>C Multiple submitters X-linked Alport syndrome
- p.Ala886Gly Multiple submitters X-linked Alport syndrome ⚠
- p.Arg74Gln Multiple submitters Inborn genetic diseases
- p.Arg777Cys Multiple submitters Alport syndrome ⚠
- p.Asp1064Asn Multiple submitters X-linked Alport syndrome ⚠
- p.Glu516Gln Multiple submitters X-linked Alport syndrome ⚠
- p.Gly114= Multiple submitters
- p.Gly343= Multiple submitters
- p.Gly843= Multiple submitters
- p.Gly866= Multiple submitters
- p.Ile1359Val Multiple submitters X-linked Alport syndrome
- p.Ile353Val Multiple submitters Inborn genetic diseases
- p.Leu1331= Multiple submitters X-linked Alport syndrome
- p.Leu1509= Multiple submitters
- p.Phe510= Multiple submitters X-linked Alport syndrome
- p.Pro1142= Multiple submitters
- p.Pro116= Multiple submitters
- p.Pro176= Multiple submitters X-linked Alport syndrome
- p.Pro566= Multiple submitters
- p.Ser889= Multiple submitters X-linked Alport syndrome
- p.Thr1028= Multiple submitters X-linked Alport syndrome
- p.Thr1511= Multiple submitters
- c.1032+18A>T Single submitter
- c.1032+18del Single submitter
- c.1032+19G>A Single submitter
- c.1032+7T>A Single submitter
- c.1032+9T>G Single submitter
- c.1033-14C>T Single submitter
- c.1033-15T>C Single submitter
- c.1033-298G>A Single submitter
- c.1033-9G>A Single submitter
- c.1165+14C>T Single submitter
- c.1165+15A>G Single submitter
- c.1165+198G>A Single submitter
- c.1165+9G>T Single submitter
- c.1166-16C>T Single submitter
- c.1339+15T>G Single submitter
- c.1339+19C>T Single submitter
- c.1339+8A>G Single submitter
- c.1340-11A>G Single submitter
- c.1340-5C>T Single submitter
- c.141+257A>G Single submitter
- c.141+7T>A Single submitter
- c.142-14T>G Single submitter
- c.142-15C>A Single submitter
- c.142-4G>T Single submitter X-linked Alport syndrome
- c.142-5T>C Single submitter
- c.1423+13A>G Single submitter
- c.1423+15C>T Single submitter
- c.1423+16A>T Single submitter
- c.1423+199C>T Single submitter
- c.1424-10A>T Single submitter
- c.1516+18G>C Single submitter
- c.1516+18G>T Single submitter
- c.1516+8A>T Single submitter X-linked Alport syndrome
- c.1516+9T>G Single submitter
- c.1517-10T>C Single submitter
- c.1517-11G>T Single submitter
- c.1517-17G>A Single submitter
- c.1517-18TG[6] Single submitter
- c.1517-18TG[8] Single submitter
- c.1517-18TG[9] Single submitter
- c.1517-25_1517-4del Single submitter
- c.1517-5G>A Single submitter
- c.1517-5G>T Single submitter
- c.1587+10G>C Single submitter
- c.1587+12G>A Single submitter
- c.1587+16A>G Single submitter
- c.1587+7T>G Single submitter
- c.1587+8T>C Single submitter
- c.1588-11A>T Single submitter
- c.1588-15C>T Single submitter
- c.1588-17T>C Single submitter
- c.1588-19T>A Single submitter
- c.1588-8C>G Single submitter
- c.1779+14A>G Single submitter
- c.1779+16A>G Single submitter
- c.1780-16A>T Single submitter
- c.1780-4T>G Single submitter
- c.1948+13T>G Single submitter
- c.1948+15T>C Single submitter
- c.1948+16T>C Single submitter
- c.1948+216C>A Single submitter
- c.1948+891G>T Single submitter
- c.1948+8T>A Single submitter
- c.1949-188T>C Single submitter
- c.1949-9T>C Single submitter
- c.2041+10G>A Single submitter
- c.2041+16A>G Single submitter
- c.2041+20C>A Single submitter
- c.2041+59_2041+61del Single submitter
- c.2041+7G>A Single submitter
- c.2041+9G>T Single submitter
- c.2042-12G>A Single submitter
- c.2042-14C>A Single submitter
- c.2042-4A>G Single submitter
- c.2042-8C>T Single submitter
- c.2042-9del Single submitter
- c.2146+14G>A Single submitter
- c.2147-11T>C Single submitter
- c.2147-4A>G Single submitter
- c.2147-5_2147-4insCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATGACTTATCATTTT Single submitter
- c.2244+10A>T Single submitter X-linked Alport syndrome
- c.2244+14T>C Single submitter
- c.2244+18T>A Single submitter
- c.2244+196C>A Single submitter
- c.2244+215_2244+216del Single submitter
- c.2244+215_2244+216dup Single submitter
- c.2244+216del Single submitter
- c.2244+216dup Single submitter
- c.2244+5G>A Single submitter
- c.2245-5T>C Single submitter
- c.231+17C>A Single submitter
- c.232-10C>G Single submitter
- c.232-20A>G Single submitter
- c.232-9A>C Single submitter
- c.2395+2746T>C Single submitter
- c.2395+2749A>G Single submitter
- c.2395+3071T>A Single submitter
- c.2395+8G>A Single submitter
- c.2396-17G>A Single submitter
- c.2396-44T>G Single submitter
- c.2509+10G>A Single submitter
- c.2509+10G>C Single submitter
- c.2509+11A>C Single submitter
- c.2509+12G>A Single submitter
- c.2509+20G>C Single submitter
- c.2509+7T>G Single submitter
- c.2509+8T>C Single submitter
- c.2510-11G>T Single submitter
- c.2510-13T>C Single submitter
- c.2510-17G>A Single submitter
- c.2510-196T>A Single submitter
- c.2510-20A>G Single submitter
- c.2510-4C>T Single submitter
- c.2677+15G>A Single submitter
- c.2677+19T>C Single submitter
- c.2677+20C>T Single submitter
- c.2677+8del Single submitter
- c.2678-13A>G Single submitter
- c.2678-14G>A Single submitter
- c.2678-16T>A Single submitter
- c.276+19A>G Single submitter
- c.276+19A>T Single submitter
- c.276+7_276+8delinsGC Single submitter
- c.276+8G>C Single submitter X-linked Alport syndrome
- c.276+9T>G Single submitter X-linked Alport syndrome
- c.2767+11A>C Single submitter
- c.2767+13G>C Single submitter
- c.2767+17G>T Single submitter
- c.2767+7A>G Single submitter
- c.2767+8T>C Single submitter
- c.2768-16C>T Single submitter
- c.277-10C>A Single submitter
- c.277-17T>C Single submitter
- c.277-19A>G Single submitter
- c.277-4A>G Single submitter
- c.277-7C>A Single submitter
- c.277-7C>G Single submitter
- c.277-8del Single submitter
- c.2917+15T>G Single submitter
- c.2917+17A>T Single submitter
- c.2918-17C>G Single submitter
- c.3016+10A>G Single submitter
- c.3016+7G>T Single submitter
- c.3017-11G>C Single submitter
- c.3017-13T>C Single submitter
- c.3017-15A>G Single submitter
- c.3017-16A>G Single submitter
- c.3017-6T>G Single submitter
- c.3106+6TGA[3] Single submitter
- c.3107-20A>C Single submitter
- c.321+11T>C Single submitter
- c.321+15A>G Single submitter
- c.321+16del Single submitter
- c.321+7A>G Single submitter
- c.321+9C>T Single submitter
- c.322-11G>A Single submitter
- c.322-4A>C Single submitter
- c.3246+10G>A Single submitter
- c.3246+8T>C Single submitter
- c.3246+9T>C Single submitter
- c.3247-10G>T Single submitter
- c.3247-11C>T Single submitter
- c.3247-18T>C Single submitter
- c.3247-20C>G Single submitter
- c.3247-329T>G Single submitter
- c.3373+10C>T Single submitter
- c.3374-5T>C Single submitter
- c.3454+14A>G Single submitter
- c.3454+15T>G Single submitter
- c.3454+19A>T Single submitter
- c.3454+7A>C Single submitter
- c.3454+8T>C Single submitter
- c.3455-15T>A Single submitter
- c.3455-16G>A Single submitter
- c.3455-16G>C Single submitter
- c.3553+10_3553+11delinsA Single submitter X-linked Alport syndrome
- c.3553+201C>A Single submitter
- c.3553+8A>C Single submitter
- c.3553+9G>A Single submitter
- c.3554-10A>C Single submitter
- c.3554-10A>G Single submitter
- c.3554-5G>C Single submitter
- c.3604+10A>G Single submitter
- c.3604+13A>C Single submitter
- c.3604+13A>G Single submitter
- c.3604+16A>T Single submitter
- c.3604+17_3604+18insT Single submitter
- c.3604+18A>T Single submitter
- c.3604+20G>C Single submitter
- c.3604+6_3604+7insATG Single submitter
- c.3604+7C>T Single submitter
- c.3604+9T>A Single submitter
- c.3604+9T>G Single submitter
- c.3605-12T>C Single submitter
- c.3605-15A>G Single submitter
- c.3605-18T>A Single submitter
- c.3605-39_3605-19del Single submitter
- c.3605-3T>C Single submitter
- c.3605-4A>G Single submitter
- c.3605-5C>T Single submitter
- c.3790+111A>G Single submitter
- c.3790+126C>G Single submitter
- c.3790+18A>G Single submitter
- c.3790+8C>T Single submitter
- c.3790+9G>A Single submitter
- c.3791-204G>A Single submitter
- c.3791-230C>T Single submitter
- c.3791-333A>G Single submitter
- c.3799+18A>G Single submitter
- c.3808+205A>G Single submitter
- c.3808+7C>T Single submitter
- c.3809-10G>C Single submitter
- c.3809-13G>T Single submitter
- c.3809-15C>T Single submitter
- c.3809-4del Single submitter
- c.3809-7T>A Single submitter
- c.3809-9A>C Single submitter
- c.384+10A>G Single submitter
- c.384+7T>A Single submitter
- c.385-102A>G Single submitter
- c.385-11A>T Single submitter
- c.385-20T>C Single submitter
- c.385-7C>T Single submitter
- c.3942+11G>A Single submitter
- c.3942+18A>G Single submitter
- c.3942+257C>A Single submitter
- c.3942+59G>C Single submitter
- c.3943-14T>C Single submitter
- c.3943-16G>A Single submitter
- c.3943-6A>T Single submitter
- c.4015+12G>A Single submitter
- c.4015+19G>A Single submitter
- c.4015+19G>C Single submitter
- c.4016-13A>G Single submitter
- c.4016-14T>C Single submitter
- c.4016-15G>A Single submitter
- c.4016-17A>G Single submitter
- c.4016-20T>C Single submitter
- c.4087+11T>C Single submitter
- c.4087+19G>A Single submitter
- c.4088-20_4088-19del Single submitter
- c.4088-4A>C Single submitter
- c.4088-4A>G Single submitter
- c.4088-5C>G Single submitter
- c.4088-5C>T Single submitter
- c.4088-9G>A Single submitter
- c.4216+1_4216+6dup Single submitter
- c.4216+15C>T Single submitter
- c.4216+17T>C Single submitter
- c.4216+228T>A Single submitter
- c.4217-15A>G Single submitter
- c.4217-16C>T Single submitter
- c.4217-18C>A Single submitter
- c.4217-19C>T Single submitter
- c.4217-30A>G Single submitter
- c.4217-6C>G Single submitter
- c.4315+20C>A Single submitter
- c.4315+7C>T Single submitter
- c.4316-10G>C Single submitter
- c.4316-12T>C Single submitter
- c.4316-13T>G Single submitter
- c.438+9T>C Single submitter
- c.439-24A>T Single submitter X-linked Alport syndrome
Uncertain significance 581
Showing the top 300 by review status; the full set is in the sitemap.
- c.1587+5G>A Multiple submitters X-linked Alport syndrome
- c.2509+16A>G Multiple submitters X-linked Alport syndrome
- c.3604+3A>T Multiple submitters X-linked Alport syndrome
- c.3942+5G>A Multiple submitters X-linked Alport syndrome
- c.4316-11C>A Multiple submitters X-linked Alport syndrome
- c.4528+6A>G Multiple submitters X-linked Alport syndrome
- c.4994+5A>G Multiple submitters X-linked Alport syndrome
- c.546+5G>A Multiple submitters X-linked Alport syndrome
- c.609+5G>A Multiple submitters X-linked Alport syndrome
- c.891+5G>A Multiple submitters X-linked Alport syndrome
- p.Ala1633Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala27= Multiple submitters X-linked Alport syndrome
- p.Ala770Pro Multiple submitters X-linked Alport syndrome ⚠
- p.Arg1262Lys Multiple submitters ⚠
- p.Arg1319Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1428Leu Multiple submitters X-linked Alport syndrome ⚠
- p.Arg1472Cys Multiple submitters X-linked Alport syndrome ⚠
- p.Arg1503Thr Multiple submitters X-linked Alport syndrome ⚠
- p.Arg1517Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1518His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1631His Multiple submitters Inborn genetic diseases ⚠
- p.Arg862Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn1323Ser Multiple submitters ⚠
- p.Cys38Phe Multiple submitters X-linked Alport syndrome ⚠
- p.Gln495Lys Multiple submitters X-linked Alport syndrome ⚠
- p.Glu357Lys Multiple submitters X-linked Alport syndrome ⚠
- p.Gly1153Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly11Val Multiple submitters
- p.Gly368_Glu369insLeuProGly Multiple submitters X-linked Alport syndrome
- p.Gly478Cys Multiple submitters X-linked Alport syndrome ⚠
- p.Gly814Glu Multiple submitters X-linked Alport syndrome ⚠
- p.Gly817Arg Multiple submitters Inborn genetic diseases ⚠
- p.His1583Asp Multiple submitters X-linked Alport syndrome ⚠
- p.His839Arg Multiple submitters X-linked Alport syndrome ⚠
- p.Ile1029Val Multiple submitters X-linked Alport syndrome ⚠
- p.Ile161Val Multiple submitters X-linked Alport syndrome ⚠
- p.Ile194Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile251Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile694Val Multiple submitters X-linked Alport syndrome ⚠
- p.Ile91Val Multiple submitters X-linked Alport syndrome ⚠
- p.Leu1322Val Multiple submitters X-linked Alport syndrome ⚠
- p.Leu14Val Multiple submitters X-linked Alport syndrome ⚠
- p.Leu1677Val Multiple submitters ⚠
- p.Leu55Trp Multiple submitters ⚠
- p.Leu764Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys1166Glu Multiple submitters ⚠
- p.Lys226Thr Multiple submitters X-linked Alport syndrome ⚠
- p.Lys590Glu Multiple submitters X-linked Alport syndrome ⚠
- p.Lys963Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met154Ile Multiple submitters X-linked Alport syndrome ⚠
- p.Met1551Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met1663Val Multiple submitters X-linked Alport syndrome ⚠
- p.Pro1014Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro1103Ser Multiple submitters ⚠
- p.Pro1236Ala Multiple submitters ⚠
- p.Pro1243Leu Multiple submitters X-linked Alport syndrome ⚠
- p.Pro1263Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro1263Ser Multiple submitters ⚠
- p.Pro1293Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1320Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1362= Multiple submitters X-linked Alport syndrome
- p.Pro1411Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1420Ala Multiple submitters ⚠
- p.Pro1455Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1523Arg Multiple submitters ⚠
- p.Pro1557Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1565Ala Multiple submitters X-linked Alport syndrome ⚠
- p.Pro1576Ala Multiple submitters X-linked Alport syndrome ⚠
- p.Pro185Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro277Leu Multiple submitters COL4A5-related disorder ⚠
- p.Pro309Arg Multiple submitters X-linked Alport syndrome ⚠
- p.Pro318Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro395Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro395Ser Multiple submitters nonsyndromic genetic hearing loss ⚠
- p.Pro589Leu Multiple submitters ⚠
- p.Pro668Leu Multiple submitters X-linked Alport syndrome ⚠
- p.Pro712Arg Multiple submitters ⚠
- p.Pro71Leu Multiple submitters X-linked Alport syndrome ⚠
- p.Pro745Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro773Ser Multiple submitters COL4A5-related disorder ⚠
- p.Pro812Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro858Thr Multiple submitters X-linked Alport syndrome ⚠
- p.Pro865Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser1494Phe Multiple submitters X-linked Alport syndrome ⚠
- p.Ser447Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr789Ser Multiple submitters X-linked Alport syndrome ⚠
- p.Tyr1646Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr1651Cys Multiple submitters X-linked Alport syndrome ⚠
- p.Val1582Ala Multiple submitters X-linked Alport syndrome ⚠
- p.Val1658Leu Multiple submitters X-linked Alport syndrome ⚠
- c.1032+4A>G Single submitter Inborn genetic diseases
- c.1032+4A>T Single submitter X-linked Alport syndrome
- c.1032+5G>A Single submitter
- c.1032+5G>T Single submitter
- c.1033-3A>G Single submitter Alport syndrome
- c.1339+3A>C Single submitter
- c.1339+6C>A Single submitter
- c.1340-8T>G Single submitter
- c.141+6G>A Single submitter
- c.1424-20T>G Single submitter X-linked Alport syndrome
- c.1424-3T>G Single submitter
- c.1424-514C>T Single submitter X-linked Alport syndrome
- c.1516+6T>C Single submitter
- c.1517-18T>A Single submitter
- c.1517-3T>G Single submitter X-linked Alport syndrome
- c.1517-9G>A Single submitter
- c.1780-11T>A Single submitter X-linked Alport syndrome
- c.1780-3T>C Single submitter
- c.1948+4A>C Single submitter X-linked Alport syndrome
- c.1948+5G>A Single submitter
- c.1948+8T>C Single submitter
- c.2146+3A>G Single submitter X-linked Alport syndrome
- c.2245-12T>A Single submitter
- c.232-8T>G Single submitter X-linked Alport syndrome
- c.2395+1291A>T Single submitter X-linked Alport syndrome
- c.2509+4A>T Single submitter
- c.2509+599A>T Single submitter X-linked Alport syndrome
- c.2509+5G>C Single submitter
- c.2509+600G>C Single submitter X-linked Alport syndrome
- c.2509+6A>G Single submitter
- c.2510-33A>G Single submitter X-linked Alport syndrome
- c.2678-16T>G Single submitter X-linked Alport syndrome
- c.2678-42A>G Single submitter X-linked Alport syndrome
- c.276+2dup Single submitter Alport syndrome
- c.276+4_276+7del Single submitter
- c.2767+3_2767+14del Single submitter X-linked Alport syndrome
- c.322-12C>A Single submitter COL4A5-related disorder
- c.3246+16T>C Single submitter X-linked Alport syndrome
- c.3246+3A>C Single submitter
- c.3247-11C>A Single submitter
- c.3454+3A>C Single submitter
- c.3454+5G>A Single submitter
- c.3454+5G>T Single submitter
- c.3553+6G>A Single submitter
- c.3554-31TTTTG[5] Single submitter
- c.3604+7_3604+27delinsATGCTAAATCAATCTATAATAA Single submitter
- c.3790+5G>A Single submitter
- c.3809-30A>G Single submitter X-linked Alport syndrome
- c.384+4A>T Single submitter X-linked Alport syndrome
- c.385-11A>G Single submitter
- c.385-638T>C Single submitter X-linked Alport syndrome
- c.385-723C>G Single submitter X-linked Alport syndrome
- c.4087+5G>C Single submitter
- c.4088-3T>C Single submitter
- c.4088-3T>G Single submitter
- c.4217-14T>G Single submitter X-linked Alport syndrome
- c.4217-2008A>G Single submitter X-linked Alport syndrome
- c.439-14_439-10del Single submitter X-linked Alport syndrome
- c.4528+5G>A Single submitter X-linked Alport syndrome
- c.4529-325A>G Single submitter X-linked Alport syndrome
- c.4529-340A>G Single submitter X-linked Alport syndrome
- c.465+2_465+3dup Single submitter
- c.465+2dup Single submitter X-linked Alport syndrome
- c.466-13T>A Single submitter
- c.4706+5G>T Single submitter
- c.4706+6G>A Single submitter
- c.4707-30_4707-11del Single submitter
- c.4821+3A>G Single submitter X-linked Alport syndrome
- c.4822-10del Single submitter
- c.4822-10T>C Single submitter X-linked Alport syndrome
- c.4994+3A>G Single submitter
- c.4994+6G>C Single submitter
- c.546+4A>G Single submitter
- c.546+4del Single submitter
- c.546+6T>A Single submitter
- c.609+833C>A Single submitter X-linked Alport syndrome
- c.609+841A>G Single submitter X-linked Alport syndrome
- c.688-5A>G Single submitter X-linked Alport syndrome
- c.781-253A>G Single submitter
- c.781-8C>G Single submitter
- c.891+9T>G Single submitter
- c.892-5T>C Single submitter
- c.936+9C>G Single submitter
- c.937-10T>A Single submitter
- c.937-10T>G Single submitter X-linked Alport syndrome
- c.-11G>A Single submitter
- c.-16C>T Single submitter
- p.338PPG[1] Single submitter
- p.Ala115Val Single submitter ⚠
- p.Ala1350Ser Single submitter ⚠
- p.Ala1465Thr Single submitter ⚠
- p.Ala1575Asp Single submitter X-linked Alport syndrome ⚠
- p.Ala1611Gly Single submitter ⚠
- p.Ala1619Val Single submitter ⚠
- p.Ala16Pro Single submitter Inborn genetic diseases ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala430Val Single submitter ⚠
- p.Ala520Val Single submitter ⚠
- p.Ala537Ser Single submitter ⚠
- p.Ala640Val Single submitter ⚠
- p.Ala726Thr Single submitter X-linked Alport syndrome ⚠
- p.Ala754Ser Single submitter Inborn genetic diseases ⚠
- p.Ala870Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1428= Single submitter
- p.Arg1428Ser Single submitter ⚠
- p.Arg1441Cys Single submitter X-linked Alport syndrome ⚠
- p.Arg1641Lys Single submitter COL4A5-related disorder ⚠
- p.Arg1678Lys Single submitter Inborn genetic diseases ⚠
- p.Arg4Ser Single submitter ⚠
- p.Arg673Ser Single submitter ⚠
- p.Arg732Lys Single submitter X-linked Alport syndrome ⚠
- p.Arg74Leu Single submitter ⚠
- p.Arg74Trp Single submitter ⚠
- p.Arg777Leu Single submitter ⚠
- p.Asn125Ser Single submitter X-linked Alport syndrome ⚠
- p.Asn1283Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1323Asp Single submitter ⚠
- p.Asn1531Ser Single submitter X-linked Alport syndrome ⚠
- p.Asn1649_Tyr1651del Single submitter X-linked Alport syndrome
- p.Asn1649Ser Single submitter ⚠
- p.Asn804Lys Single submitter Inborn genetic diseases ⚠
- p.Asp1067Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1206Gly Single submitter ⚠
- p.Asp1328His Single submitter ⚠
- p.Asp1597Asn Single submitter ⚠
- p.Asp1659Tyr Single submitter ⚠
- p.Asp265Asn Single submitter X-linked Alport syndrome ⚠
- p.Asp303Val Single submitter Inborn genetic diseases ⚠
- p.Asp549Gly Single submitter X-linked Alport syndrome ⚠
- p.Asp682Asn Single submitter Inborn genetic diseases ⚠
- p.Asp847Asn Single submitter ⚠
- p.Asp925Tyr Single submitter COL4A5-related disorder ⚠
- p.Cys1515Tyr Single submitter ⚠
- p.Cys1533= Single submitter X-linked Alport syndrome
- p.Cys1626Ser Single submitter ⚠
- p.Cys1626Trp Single submitter ⚠
- p.Cys1626Tyr Single submitter ⚠
- p.Cys1638Ser Single submitter ⚠
- p.Cys1687Phe Single submitter X-linked Alport syndrome ⚠
- p.Cys451Ser Single submitter X-linked Alport syndrome ⚠
- p.Gln1257His Single submitter Inborn genetic diseases ⚠
- p.Gln1308= Single submitter X-linked Alport syndrome
- p.Gln1314= Single submitter X-linked Alport syndrome
- p.Gln1453Lys Single submitter ⚠
- p.Gln1475His Single submitter X-linked Alport syndrome ⚠
- p.Gln1499His Single submitter X-linked Alport syndrome ⚠
- p.Gln1685Pro Single submitter ⚠
- p.Gln260Pro Single submitter ⚠
- p.Gln291Pro Single submitter ⚠
- p.Gln379Pro Single submitter ⚠
- p.Gln645Lys Single submitter ⚠
- p.Gln657Arg Single submitter Inborn genetic diseases ⚠
- p.Glu1183Lys Single submitter ⚠
- p.Glu1224Lys Single submitter X-linked Alport syndrome ⚠
- p.Glu1248Lys Single submitter ⚠
- p.Glu357Asp Single submitter X-linked Alport syndrome ⚠
- p.Glu369Asp Single submitter ⚠
- p.Glu372Lys Single submitter X-linked Alport syndrome ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu470Gly Single submitter X-linked Alport syndrome ⚠
- p.Glu49Asp Single submitter ⚠
- p.Glu49Gly Single submitter X-linked Alport syndrome ⚠
- p.Glu592Gln Single submitter ⚠
- p.Glu736Gln Single submitter ⚠
- p.Glu897Lys Single submitter X-linked Alport syndrome ⚠
- p.Gly1048Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly1051Glu Single submitter X-linked Alport syndrome ⚠
- p.Gly1080Ala Single submitter X-linked Alport syndrome ⚠
- p.Gly1083Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly1107Val Single submitter Inborn genetic diseases ⚠
- p.Gly1128Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1154Arg Single submitter ⚠
- p.Gly1167_Lys1168del Single submitter X-linked Alport syndrome
- p.Gly1176Glu Single submitter ⚠
- p.Gly117Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly1196= Single submitter X-linked Alport syndrome
- p.Gly1199_Leu1200insProProGlyLeuProGly Single submitter X-linked Alport syndrome
- p.Gly11Asp Single submitter Inborn genetic diseases ⚠
- p.Gly11Cys Single submitter X-linked Alport syndrome ⚠
- p.Gly1318= Single submitter
- p.Gly1357Val Single submitter X-linked Alport syndrome ⚠
- p.Gly1460Glu Single submitter ⚠
- p.Gly1485Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly1485Glu Single submitter ⚠
- p.Gly1506Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly1510Ala Single submitter ⚠
- p.Gly1560Asp Single submitter ⚠
- p.Gly156Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly156Asp Single submitter ⚠
- p.Gly156Val Single submitter ⚠
- p.Gly1624Ala Single submitter ⚠
- p.Gly1640Arg Single submitter ⚠
- p.Gly198Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly201Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly219Ser Single submitter ⚠
- p.Gly227Asp Single submitter X-linked Alport syndrome ⚠
- p.Gly230Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly239Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly270Arg Single submitter hearing loss disorder ⚠
- p.Gly283Ser Single submitter Inborn genetic diseases ⚠
- p.Gly286Cys Single submitter ⚠
- p.Gly295Ser Single submitter X-linked Alport syndrome ⚠
- p.Gly35Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly386Ala Single submitter ⚠
- p.Gly389Glu Single submitter ⚠
- p.Gly42Ala Single submitter ⚠
- p.Gly435Arg Single submitter X-linked Alport syndrome ⚠
- p.Gly488Val Single submitter X-linked Alport syndrome ⚠
- p.Gly512Glu Single submitter ⚠
- p.Gly536Arg Single submitter X-linked Alport syndrome ⚠