ITGA4 — 137 ClinVar variants

All ClinVar germline ITGA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

1 Likely pathogenic · 2 Conflicting · 10 Benign · 16 Likely benign · 108 Uncertain significance

Full ITGA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 agree, ClinVar conflicts 1

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

ITGA4 p.Val824Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 91

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 10

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

All ITGA4 variants

Likely pathogenic 1

c.*2719T>C Single submitter

Conflicting classifications of pathogenicity 2

c.*2381C>A Single submitter retinitis pigmentosa
p.Val824Ala Single submitter ⚠

Benign 10

c.1042-6A>G Multiple submitters
c.754+10A>C Multiple submitters
c.841-15T>C Multiple submitters
c.*1703G>T Multiple submitters retinitis pigmentosa
p.Ser634Thr Multiple submitters
c.1339+7A>G Single submitter
c.2539-10G>T Single submitter
p.Ala738= Single submitter
p.Ile611= Single submitter
p.Leu679= Single submitter

Likely benign 16

c.2884-7C>G Multiple submitters
p.Ala15= Single submitter
p.Arg17Trp Single submitter
p.Asn792Ser Single submitter
p.Glu528Gln Single submitter
p.Glu855Lys Single submitter
p.Ile154Met Single submitter
p.Lys483Asn Single submitter
p.Pro182= Single submitter
p.Thr265= Single submitter
p.Val681Met Single submitter
c.1340-8T>A No assertion criteria ITGA4-related disorder
c.3004-11_3004-3dup No assertion criteria ITGA4-related disorder
p.Ala960= No assertion criteria ITGA4-related disorder
p.Leu358= No assertion criteria ITGA4-related disorder
p.Thr673= No assertion criteria ITGA4-related disorder

Uncertain significance 108

c.*2670_*2680dup Single submitter
c.*2677C>G Single submitter ⚠
c.*2695G>A Single submitter ⚠
c.*2720G>T Single submitter
p.Ala237Gly Single submitter ⚠
p.Ala5Thr Single submitter ⚠
p.Ala5Val Single submitter ⚠
p.Ala738Val Single submitter ⚠
p.Ala74Thr Single submitter ⚠
p.Ala862Ser Single submitter ⚠
p.Ala913Asp Single submitter ⚠
p.Ala960Thr Single submitter ⚠
p.Ala960Val Single submitter ⚠
p.Arg1018Gly Single submitter ⚠
p.Arg173Gln Single submitter ⚠
p.Arg173Leu Single submitter ⚠
p.Arg565Gln Single submitter ⚠
p.Arg569Gln Single submitter ⚠
p.Arg569Trp Single submitter ⚠
p.Asn1030Thr Single submitter ⚠
p.Asn124Tyr Single submitter ⚠
p.Asn357Lys Single submitter ⚠
p.Asn374Asp Single submitter ⚠
p.Asn645Ser Single submitter ⚠
p.Asn660Ser Single submitter ⚠
p.Asn75Ser Single submitter ⚠
p.Asn84Ser Single submitter ⚠
p.Asn899Tyr Single submitter ⚠
p.Asn958Thr Single submitter ⚠
p.Asp542Glu Single submitter ⚠
p.Asp741Asn Single submitter ⚠
p.Asp741Tyr Single submitter ⚠
p.Asp757Gly Single submitter ⚠
p.Asp844Asn Single submitter ⚠
p.Cys501Arg Single submitter ⚠
p.Gln1008Arg Single submitter ⚠
p.Gln1008Pro Single submitter ⚠
p.Gln970Glu Single submitter ⚠
p.Gly389Arg Single submitter ⚠
p.Gly511Ser Single submitter ⚠
p.His48Arg Single submitter ⚠
p.His853Arg Single submitter ⚠
p.His968Tyr Single submitter ⚠
p.His969Arg Single submitter ⚠
p.Ile1025Ser Single submitter ⚠
p.Ile372Val Single submitter ⚠
p.Ile402Phe Single submitter ⚠
p.Ile402Val Single submitter ⚠
p.Ile611Thr Single submitter ⚠
p.Ile713Thr Single submitter ⚠
p.Ile990Thr Single submitter ⚠
p.Ile990Val Single submitter ⚠
p.Leu119Phe Single submitter ⚠
p.Leu42Val Single submitter ⚠
p.Leu500His Single submitter ⚠
p.Leu572Ile Single submitter ⚠
p.Leu640Phe Single submitter ⚠
p.Leu953Val Single submitter ⚠
p.Leu963Pro Single submitter
p.Lys234Thr Single submitter ⚠
p.Lys300Glu Single submitter ⚠
p.Lys613Arg Single submitter ⚠
p.Lys646Arg Single submitter ⚠
p.Met519Leu Single submitter ⚠
p.Met658Ile Single submitter ⚠
p.Met805Ile Single submitter ⚠
p.Met999Thr Single submitter ⚠
p.Phe904Leu Single submitter ⚠
p.Pro169Ala Single submitter ⚠
p.Pro33Ser Single submitter ⚠
p.Pro47Ala Single submitter ⚠
p.Pro47Thr Single submitter ⚠
p.Pro895Leu Single submitter ⚠
p.Ser108Asn Single submitter ⚠
p.Ser132Pro Single submitter ⚠
p.Ser285Asn Single submitter ⚠
p.Ser520Arg Single submitter ⚠
p.Ser520Asn Single submitter ⚠
p.Ser537Tyr Single submitter ⚠
p.Ser589Asn Single submitter ⚠
p.Ser592Arg Single submitter ⚠
p.Ser628Pro Single submitter ⚠
p.Ser653Arg Single submitter ⚠
p.Ser662Cys Single submitter
p.Ser733Asn Single submitter ⚠
p.Ser831Thr Single submitter ⚠
p.Ser984Gly Single submitter ⚠
p.Thr100Ala Single submitter ⚠
p.Thr100Met Single submitter ⚠
p.Thr356Arg Single submitter ⚠
p.Thr615Ile Single submitter ⚠
p.Thr656Ile Single submitter ⚠
p.Thr785Ala Single submitter ⚠
p.Trp126Cys Single submitter ⚠
p.Trp491Arg Single submitter ⚠
p.Tyr504His Single submitter
p.Val142Met Single submitter ⚠
p.Val28Ile Single submitter ⚠
p.Val28Phe Single submitter ⚠
p.Val459Ala Single submitter
p.Val543Met Single submitter ⚠
p.Val568Met Single submitter ⚠
p.Val651Ile Single submitter ⚠
p.Val661Ala Single submitter
p.Val782Ala Single submitter ⚠
p.Val811Ile Single submitter ⚠
p.Val877Gly Single submitter ⚠
p.Ser547Gly No assertion criteria ITGA4-related disorder ⚠