Sugi Variant

Sugi Variant/ITGA3

ITGA3 — 570 ClinVar variants

All ClinVar germline ITGA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 206 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 20 Conflicting · 52 Benign · 28 Benign/Likely benign · 202 Likely benign · 237 Uncertain significance

Full ITGA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 206

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 1

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

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 156

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 156

Predictors split 37

The independent predictors disagree with each other — read with care.

All ITGA3 variants

Pathogenic 5

  • c.2070+1G>A Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.2577_2583+13del Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Arg510Ter Single submitter
  • c.1538-1G>A No assertion criteria epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Pro392fs No assertion criteria epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

Pathogenic/Likely pathogenic 2

  • p.Pro81fs Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Arg628Pro No assertion criteria nephrotic syndrome ⚠

Likely pathogenic 24

  • p.Arg274Gln Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg875Ter Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.1469+2T>A Single submitter
  • c.2219+1G>A Single submitter
  • c.2299del Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.2401-11_2409del Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.665-1G>A Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.*32-1G>C Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Ala896fs Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Arg165Ter Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Arg276Ter Single submitter ITGA3-related disorder
  • p.Arg38Ter Single submitter
  • p.Arg463Trp Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Arg932Ter Single submitter ITGA3-related disorder
  • p.Asp378Val Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Gln348Ter Single submitter ITGA3-related disorders
  • p.Gly289fs Single submitter
  • p.Gly541Arg Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Gly881Ter Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Lys638Ter Single submitter
  • p.Trp149Ter Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Val756fs Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Asp865fs No assertion criteria nephrotic syndrome
  • p.Ser898fs No assertion criteria ITGA3-related disorder

Conflicting classifications of pathogenicity 20

  • c.1825-13G>A Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.3046-4G>A Single submitter
  • p.Arg276Gln Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg524Cys Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg76Gln Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg770Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg908His Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asn186Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn926= Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Gln610Pro Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Glu622Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu981Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly289= Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Gly776Trp Single submitter ⚠
  • p.Thr486= Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Thr658Arg Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Tyr400= Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Val734Met Single submitter ⚠
  • p.Val838Ile Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Val923Ile Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠

Benign 52

Benign/Likely benign 28

  • c.1157-9C>T Multiple submitters
  • c.1382+3G>A Multiple submitters
  • c.1470-11C>T Multiple submitters
  • c.1537+16C>T Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.1675-8C>T Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.207-14G>A Multiple submitters
  • c.207-18C>T Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.2297+4G>A Multiple submitters
  • c.2400+7G>A Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.2707-14C>T Multiple submitters
  • c.2820+13G>T Multiple submitters
  • c.2920-12T>C Multiple submitters
  • p.Ala310Val Multiple submitters
  • p.Ala349= Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Ala391= Multiple submitters
  • p.Ala682= Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Ala74= Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Arg229= Multiple submitters
  • p.Arg943Gly Multiple submitters
  • p.Gly279= Multiple submitters
  • p.Gly777= Multiple submitters
  • p.His540= Multiple submitters
  • p.His728= Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Leu371Phe Multiple submitters
  • p.Leu556= Multiple submitters
  • p.Phe430= Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Pro133= Multiple submitters
  • p.Pro987Arg Multiple submitters

Likely benign 202

Uncertain significance 237

  • c.*48G>A Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.*96G>A Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Ala1026Val Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala1035Val Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg156Trp Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg157His Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg293Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg524His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg525Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg589Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg628Gln Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg665His Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg770Gln Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg875Gln Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg932Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asn746Lys Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asp745Asn Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asp82Asn Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asp977Asn Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Glu668Asp Multiple submitters Inborn genetic diseases
  • p.Gly203Ser Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gly216Ser Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gly290Arg Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gly533Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly842Arg Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ile570Val Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Leu410Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu860Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Pro242Arg Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro48Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser301Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser352Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser663Leu Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ser687Leu Multiple submitters Inborn genetic diseases
  • p.Ser868Leu Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Thr486Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr834Met Multiple submitters ⚠
  • p.Tyr237His Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr54Asp Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Val465Ile Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Val999Met Multiple submitters epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • c.1382+16A>G Single submitter
  • c.1470-14C>T Single submitter
  • c.1674+6G>A Single submitter
  • c.1825-3C>G Single submitter
  • c.1825-5C>G Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.1922+17G>A Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.1922+4G>A Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.2707-7G>T Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.2920-6_2920-1dup Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.3045+6_3045+8del Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.3046-1G>C Single submitter
  • c.335-16C>A Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.-3_-1del Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.*107C>T Single submitter Inborn genetic diseases
  • c.*120C>T Single submitter Inborn genetic diseases
  • c.*152G>A Single submitter Inborn genetic diseases
  • c.*170C>T Single submitter Inborn genetic diseases
  • c.*171G>A Single submitter Inborn genetic diseases
  • c.*32-2A>C Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • c.*33G>A Single submitter Inborn genetic diseases
  • c.*48G>C Single submitter Inborn genetic diseases
  • c.*83G>A Single submitter Inborn genetic diseases
  • c.*89C>T Single submitter Inborn genetic diseases
  • c.*90G>A Single submitter Inborn genetic diseases
  • c.*95C>T Single submitter Inborn genetic diseases
  • p.Ala1022Gly Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala1026Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala1030Val Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala11Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala214Thr Single submitter ⚠
  • p.Ala280Val Single submitter ⚠
  • p.Ala305Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala310Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala32Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala520Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala600Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala629Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala72Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala79Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ala892Val Single submitter Inborn genetic diseases ⚠
  • p.Ala893Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg1021Ter Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Arg1023Cys Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg1046fs Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Arg105Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg10His Single submitter ⚠
  • p.Arg13Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg143Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg156Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg229His Single submitter Inborn genetic diseases ⚠
  • p.Arg293Gln Single submitter ⚠
  • p.Arg294Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg334Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg461Gln Single submitter ⚠
  • p.Arg463Gln Single submitter ⚠
  • p.Arg549His Single submitter ⚠
  • p.Arg562His Single submitter ⚠
  • p.Arg579Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg628Gly Single submitter ⚠
  • p.Arg665Ser Single submitter ⚠
  • p.Arg76Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg872Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg874Trp Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg87Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg908Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg949Gln Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Arg959Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asn265Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asn507Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asn598Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asn656Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asn656Tyr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asn711Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn841Ser Single submitter ⚠
  • p.Asn926Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asn969Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asp1050Asn Single submitter ⚠
  • p.Asp244_Gln245delinsGluGlu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Asp36Tyr Single submitter ITGA3-related disorder ⚠
  • p.Asp441Val Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Asp592Glu Single submitter ⚠
  • p.Asp977Tyr Single submitter ⚠
  • p.Cys1016Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Cys1016Trp Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gln228His Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gln381His Single submitter Inborn genetic diseases ⚠
  • p.Gln601Arg Single submitter ⚠
  • p.Gln733Glu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gln737Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln744Arg Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Glu183Lys Single submitter
  • p.Glu333Lys Single submitter ⚠
  • p.Glu420Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu44Asp Single submitter ⚠
  • p.Glu721= Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Glu806Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu940Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu985Asp Single submitter ⚠
  • p.Gly125Arg Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gly132Ser Single submitter ⚠
  • p.Gly195Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly26Ala Single submitter ⚠
  • p.Gly279Asp Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gly300Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Gly49Asp Single submitter ⚠
  • p.Gly533Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly587Val Single submitter ⚠
  • p.Gly724Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly776Ala Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gly807Arg Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.His262Tyr Single submitter ⚠
  • p.His418Tyr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.His743Gln Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.His743Tyr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ile1010Thr Single submitter ⚠
  • p.Ile108Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile266Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile342Met Single submitter Inborn genetic diseases ⚠
  • p.Ile376Val Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ile569Met Single submitter Inborn genetic diseases ⚠
  • p.Ile700Val Single submitter Inborn genetic diseases ⚠
  • p.Ile853Thr Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ile939Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile962Met Single submitter Inborn genetic diseases ⚠
  • p.Ile978Val Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Leu449= Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Leu453Pro Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Leu484Phe Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Leu495Arg Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Leu704Met Single submitter Inborn genetic diseases
  • p.Leu795Phe Single submitter
  • p.Leu814= Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Leu902= Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Leu96Val Single submitter ⚠
  • p.Leu982Pro Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Lys407Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys407Glu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Met106Lys Single submitter Inborn genetic diseases ⚠
  • p.Met226Val Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Met438Thr Single submitter Inborn genetic diseases ⚠
  • p.Met548Leu Single submitter Inborn genetic diseases ⚠
  • p.Met804Val Single submitter ⚠
  • p.Phe212Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Phe774Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro1041Gln Single submitter ⚠
  • p.Pro12Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro133Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro392Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro3Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro5Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro681Ala Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro848Ser Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro849Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro855Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Pro963Ala Single submitter ⚠
  • p.Pro9Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ser130Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser452Arg Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ser489Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser544Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser544Pro Single submitter ⚠
  • p.Ser590Cys Single submitter ⚠
  • p.Ser645Cys Single submitter Inborn genetic diseases
  • p.Ser645Ile Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Ser654Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser825Asn Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Thr145Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr194Met Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Thr201Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr37Ala Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Thr429Ile Single submitter Inborn genetic diseases
  • p.Thr726Ile Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Thr778Ala Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Thr834= Single submitter
  • p.Thr859Ile Single submitter ⚠
  • p.Thr972Met Single submitter Inborn genetic diseases ⚠
  • p.Tyr218Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr225Phe Single submitter Inborn genetic diseases ⚠
  • p.Tyr432Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr797His Single submitter Inborn genetic diseases ⚠
  • p.Tyr84Phe Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Val137Ala Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Val164Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Val164Met Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • p.Val29Asp Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Val29Ile Single submitter Inborn genetic diseases ⚠
  • p.Val30Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Val450Ala Single submitter ⚠
  • p.Val678Leu Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Val679Leu Single submitter Inborn genetic diseases ⚠
  • p.Val788Ala Single submitter ⚠
  • p.Val788Met Single submitter Inborn genetic diseases ⚠
  • p.Val983Ala Single submitter epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gln501Arg No assertion criteria epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ⚠
  • p.Gln626Ter No assertion criteria
  • p.Pro506Thr No assertion criteria ITGA3-related disorder ⚠