GIT1 — 103 ClinVar variants
All ClinVar germline GIT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
2 Pathogenic · 1 Conflicting · 3 Benign · 19 Likely benign · 78 Uncertain significance
Full GIT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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.
-
GIT1 p.Arg472Gln
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GIT1 p.Ala130Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala311Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala402Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala466Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala488Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala488Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala515Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala543Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala551Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala594Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala707Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ala726Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg201Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg229Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg237His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg309His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg398Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg39Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg409Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg43Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg455Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg487Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg487Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg501His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg52His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Arg555Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Gln750Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Glu259Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Glu308Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Glu453Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Gly27Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Gly419Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Gly612Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Gly725Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ile247Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ile347Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ile544Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Leu186Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Leu367Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Leu483Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Leu531Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Lys439Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Met411Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Phe519Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Phe615Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Pro17Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Pro17Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Pro396Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Pro484His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Pro572Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Pro724Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ser362Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ser414Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ser536Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ser570Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ser592Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Thr491Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Thr584Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Tyr710Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Val141Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Val287Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Val386Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Val547Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Val99Asp
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 7
The independent predictors disagree with each other — read with care.
-
GIT1 p.Asp597Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Gln223Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Lys242Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Met444Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Pro533Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ser258Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GIT1 p.Ser36Thr
Uncertain significance
Single submitter
Inborn genetic diseases
All GIT1 variants
Pathogenic 2
- c.1094-1_1096del Single submitter GIT1-related disorder
- p.Ala515fs Single submitter GIT1-related disorder
Conflicting classifications of pathogenicity 1
- p.Arg472Gln Single submitter Inborn genetic diseases ⚠
Benign 3
- p.Pro83= Multiple submitters
- c.405+9G>A Single submitter
- p.Thr400= No assertion criteria GIT1-related disorder
Likely benign 19
- c.623+10G>A Single submitter
- c.883+15A>C Single submitter
- c.981+8_981+9dup Single submitter
- p.Arg459Gln Single submitter
- p.Asn706= Single submitter
- p.Pro569= Single submitter
- p.Ser370= Single submitter
- c.2010-4G>A No assertion criteria GIT1-related disorder
- c.*3TC[2] No assertion criteria GIT1-related disorder
- p.Ala515= No assertion criteria GIT1-related disorder
- p.Arg717= No assertion criteria GIT1-related disorder
- p.Asp418= No assertion criteria GIT1-related disorder
- p.Gln250= No assertion criteria GIT1-related disorder
- p.Glu221= No assertion criteria GIT1-related disorder
- p.Glu622= No assertion criteria GIT1-related disorder
- p.His50= No assertion criteria GIT1-related disorder
- p.Leu516= No assertion criteria GIT1-related disorder
- p.Thr129= No assertion criteria GIT1-related disorder
- p.Val547= No assertion criteria GIT1-related disorder
Uncertain significance 78
- c.762-205C>T Single submitter Inborn genetic diseases
- p.Ala130Thr Single submitter Inborn genetic diseases ⚠
- p.Ala183Gly Single submitter Inborn genetic diseases
- p.Ala311Val Single submitter Inborn genetic diseases ⚠
- p.Ala402Thr Single submitter Inborn genetic diseases ⚠
- p.Ala466Val Single submitter Inborn genetic diseases ⚠
- p.Ala488Thr Single submitter Inborn genetic diseases ⚠
- p.Ala488Val Single submitter Inborn genetic diseases ⚠
- p.Ala515Ser Single submitter Inborn genetic diseases ⚠
- p.Ala543Thr Single submitter Inborn genetic diseases ⚠
- p.Ala551Thr Single submitter Inborn genetic diseases ⚠
- p.Ala594Gly Single submitter Inborn genetic diseases ⚠
- p.Ala707Thr Single submitter Inborn genetic diseases ⚠
- p.Ala726Thr Single submitter Inborn genetic diseases ⚠
- p.Arg201Cys Single submitter Inborn genetic diseases ⚠
- p.Arg229Gln Single submitter Inborn genetic diseases ⚠
- p.Arg237His Single submitter Inborn genetic diseases ⚠
- p.Arg309His Single submitter Inborn genetic diseases ⚠
- p.Arg398Cys Single submitter Inborn genetic diseases ⚠
- p.Arg39Trp Single submitter Inborn genetic diseases ⚠
- p.Arg409Gln Single submitter Inborn genetic diseases ⚠
- p.Arg409Trp Single submitter Inborn genetic diseases
- p.Arg43Cys Single submitter Inborn genetic diseases ⚠
- p.Arg455Gln Single submitter Inborn genetic diseases ⚠
- p.Arg487Gln Single submitter Inborn genetic diseases ⚠
- p.Arg487Trp Single submitter Inborn genetic diseases ⚠
- p.Arg501His Single submitter Inborn genetic diseases ⚠
- p.Arg52Cys Single submitter Inborn genetic diseases
- p.Arg52His Single submitter Inborn genetic diseases ⚠
- p.Arg555Gln Single submitter Inborn genetic diseases ⚠
- p.Arg555Trp Single submitter Inborn genetic diseases
- p.Asp597Ala Single submitter Inborn genetic diseases ⚠
- p.Gln223Leu Single submitter Inborn genetic diseases ⚠
- p.Gln750Glu Single submitter Inborn genetic diseases ⚠
- p.Glu259Lys Single submitter Inborn genetic diseases ⚠
- p.Glu308Gly Single submitter Inborn genetic diseases ⚠
- p.Glu453Lys Single submitter Inborn genetic diseases ⚠
- p.Gly27Val Single submitter Inborn genetic diseases ⚠
- p.Gly419Arg Single submitter Inborn genetic diseases ⚠
- p.Gly524fs Single submitter Developmental disorder
- p.Gly612Trp Single submitter Inborn genetic diseases ⚠
- p.Gly725Ser Single submitter Inborn genetic diseases ⚠
- p.Ile247Val Single submitter Inborn genetic diseases ⚠
- p.Ile347Val Single submitter Inborn genetic diseases ⚠
- p.Ile544Met Single submitter Inborn genetic diseases ⚠
- p.Leu186Val Single submitter Inborn genetic diseases ⚠
- p.Leu367Pro Single submitter Inborn genetic diseases ⚠
- p.Leu483Phe Single submitter Inborn genetic diseases ⚠
- p.Leu531Pro Single submitter Inborn genetic diseases ⚠
- p.Lys242Asn Single submitter Inborn genetic diseases ⚠
- p.Lys439Arg Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter
- p.Met411Val Single submitter Inborn genetic diseases ⚠
- p.Met444Ile Single submitter Inborn genetic diseases ⚠
- p.Phe519Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe615Tyr Single submitter Inborn genetic diseases ⚠
- p.Pro17Arg Single submitter Inborn genetic diseases ⚠
- p.Pro17Leu Single submitter Inborn genetic diseases ⚠
- p.Pro396Thr Single submitter Inborn genetic diseases ⚠
- p.Pro484His Single submitter Inborn genetic diseases ⚠
- p.Pro533Leu Single submitter Inborn genetic diseases ⚠
- p.Pro572Leu Single submitter Inborn genetic diseases ⚠
- p.Pro724Ser Single submitter Inborn genetic diseases ⚠
- p.Ser258Pro Single submitter Inborn genetic diseases ⚠
- p.Ser362Gly Single submitter Inborn genetic diseases ⚠
- p.Ser36Thr Single submitter Inborn genetic diseases ⚠
- p.Ser414Leu Single submitter Inborn genetic diseases ⚠
- p.Ser536Gly Single submitter Inborn genetic diseases ⚠
- p.Ser570Ala Single submitter Inborn genetic diseases ⚠
- p.Ser592Ile Single submitter Inborn genetic diseases ⚠
- p.Thr491Ala Single submitter Inborn genetic diseases ⚠
- p.Thr584Met Single submitter Inborn genetic diseases ⚠
- p.Tyr710Cys Single submitter Inborn genetic diseases ⚠
- p.Val141Met Single submitter Inborn genetic diseases ⚠
- p.Val287Met Single submitter Inborn genetic diseases ⚠
- p.Val386Met Single submitter Inborn genetic diseases ⚠
- p.Val547Leu Single submitter Inborn genetic diseases ⚠
- p.Val99Asp Single submitter Inborn genetic diseases ⚠