RIN1 — 166 ClinVar variants

All ClinVar germline RIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

4 Benign · 1 Benign/Likely benign · 10 Likely benign · 151 Uncertain significance

Full RIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 lean, ClinVar uncertain 116

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

Predictors split 30

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

All RIN1 variants

Benign 4

p.Ala690= Multiple submitters
p.Gly737= Multiple submitters
p.Val700Ile Multiple submitters
p.Val546Ile Single submitter

Benign/Likely benign 1

p.Thr643= Multiple submitters

Likely benign 10

p.Ala261= Single submitter
p.Ala379Val Single submitter
p.Arg779Gln Single submitter
p.Gly44Arg Single submitter
p.Gly593Asp Single submitter
p.Ile402Val Single submitter
p.Phe116= Single submitter
p.Pro17Leu Single submitter
p.Val129Ile Single submitter
p.Gly460Ser No assertion criteria RIN1-related disorder

Uncertain significance 151

p.Ala111Thr Single submitter ⚠
p.Ala168Thr Single submitter ⚠
p.Ala221Ser Single submitter ⚠
p.Ala31Val Single submitter ⚠
p.Ala368Val Single submitter ⚠
p.Ala379Glu Single submitter ⚠
p.Ala449Gly Single submitter ⚠
p.Ala458Thr Single submitter ⚠
p.Ala466Thr Single submitter ⚠
p.Ala688Ser Single submitter ⚠
p.Ala780Thr Single submitter ⚠
p.Arg107Gln Single submitter ⚠
p.Arg107Trp Single submitter ⚠
p.Arg163Gly Single submitter ⚠
p.Arg195Trp Single submitter ⚠
p.Arg238Trp Single submitter ⚠
p.Arg243Gly Single submitter ⚠
p.Arg248Gly Single submitter ⚠
p.Arg248His Single submitter ⚠
p.Arg280Gln Single submitter ⚠
p.Arg288Gln Single submitter ⚠
p.Arg288Trp Single submitter ⚠
p.Arg296Cys Single submitter ⚠
p.Arg331Trp Single submitter ⚠
p.Arg342His Single submitter ⚠
p.Arg343Gln Single submitter ⚠
p.Arg344Gln Single submitter ⚠
p.Arg362Gln Single submitter ⚠
p.Arg375Gln Single submitter ⚠
p.Arg403Cys Single submitter ⚠
p.Arg403Leu Single submitter
p.Arg408Gln Single submitter ⚠
p.Arg408Trp Single submitter ⚠
p.Arg453Gln Single submitter ⚠
p.Arg453Trp Single submitter ⚠
p.Arg454His Single submitter ⚠
p.Arg464Cys Single submitter ⚠
p.Arg470Cys Single submitter ⚠
p.Arg470His Single submitter ⚠
p.Arg473Trp Single submitter ⚠
p.Arg496Cys Single submitter ⚠
p.Arg496His Single submitter ⚠
p.Arg496Leu Single submitter ⚠
p.Arg504Cys Single submitter ⚠
p.Arg504His Single submitter ⚠
p.Arg514Trp Single submitter ⚠
p.Arg527Ser Single submitter ⚠
p.Arg608His Single submitter ⚠
p.Arg617Cys Single submitter ⚠
p.Arg617His Single submitter ⚠
p.Arg61Cys Single submitter
p.Arg629Gln Single submitter ⚠
p.Arg683Cys Single submitter ⚠
p.Arg702His Single submitter ⚠
p.Arg703Gln Single submitter ⚠
p.Arg703Trp Single submitter ⚠
p.Arg749Trp Single submitter ⚠
p.Arg779Trp Single submitter ⚠
p.Arg99Cys Single submitter ⚠
p.Arg99His Single submitter ⚠
p.Asp153Asn Single submitter ⚠
p.Asp537Asn Single submitter
p.Gln143Arg Single submitter ⚠
p.Gln194Glu Single submitter ⚠
p.Gln381Pro Single submitter ⚠
p.Gln45Arg Single submitter ⚠
p.Gln511Pro Single submitter ⚠
p.Gln721His Single submitter ⚠
p.Gln721Leu Single submitter ⚠
p.Glu124Gly Single submitter ⚠
p.Glu28Gln Single submitter ⚠
p.Glu290Lys Single submitter ⚠
p.Glu323Lys Single submitter ⚠
p.Glu395Lys Single submitter ⚠
p.Glu750Gln Single submitter ⚠
p.Glu86Lys Single submitter ⚠
p.Gly133Val Single submitter ⚠
p.Gly300Cys Single submitter ⚠
p.Gly463Asp Single submitter ⚠
p.Gly468Asp Single submitter ⚠
p.Gly47Arg Single submitter ⚠
p.Gly535Ser Single submitter ⚠
p.Gly591Asp Single submitter ⚠
p.Gly638Ala Single submitter ⚠
p.Gly758Val Single submitter ⚠
p.His171Arg Single submitter ⚠
p.His339Asn Single submitter ⚠
p.His339Tyr Single submitter ⚠
p.His430Arg Single submitter ⚠
p.His622Arg Single submitter ⚠
p.His622Tyr Single submitter ⚠
p.His81Tyr Single submitter ⚠
p.Ile145Val Single submitter ⚠
p.Leu144Phe Single submitter ⚠
p.Leu174Gln Single submitter ⚠
p.Leu257Pro Single submitter ⚠
p.Leu346Pro Single submitter ⚠
p.Leu462Val Single submitter ⚠
p.Leu465Pro Single submitter ⚠
p.Leu502Val Single submitter ⚠
p.Leu684Pro Single submitter ⚠
p.Leu689Val Single submitter ⚠
p.Leu83Met Single submitter ⚠
p.Lys192Asn Single submitter ⚠
p.Lys677Glu Single submitter ⚠
p.Lys742Glu Single submitter ⚠
p.Met106Thr Single submitter ⚠
p.Phe138Leu Single submitter ⚠
p.Phe480Leu Single submitter ⚠
p.Pro197Leu Single submitter ⚠
p.Pro230Arg Single submitter ⚠
p.Pro266Ser Single submitter ⚠
p.Pro282His Single submitter ⚠
p.Pro298Arg Single submitter ⚠
p.Pro306Leu Single submitter ⚠
p.Pro489Ala Single submitter ⚠
p.Pro686Leu Single submitter ⚠
p.Pro88Leu Single submitter ⚠
p.Ser112Arg Single submitter ⚠
p.Ser118Cys Single submitter ⚠
p.Ser134Leu Single submitter
p.Ser276Arg Single submitter ⚠
p.Ser301Cys Single submitter ⚠
p.Ser304Arg Single submitter ⚠
p.Ser407Gly Single submitter ⚠
p.Ser424Leu Single submitter ⚠
p.Ser439Phe Single submitter ⚠
p.Ser482Tyr Single submitter ⚠
p.Ser485Ile Single submitter ⚠
p.Ser509Gly Single submitter ⚠
p.Ser544Gly Single submitter ⚠
p.Ser563Leu Single submitter ⚠
p.Ser611Asn Single submitter ⚠
p.Thr377Ile Single submitter ⚠
p.Thr528Ile Single submitter ⚠
p.Tyr148His Single submitter ⚠
p.Tyr523Cys Single submitter
p.Val117Ile Single submitter ⚠
p.Val202Met Single submitter ⚠
p.Val249Met Single submitter ⚠
p.Val262Met Single submitter ⚠
p.Val267Ile Single submitter ⚠
p.Val267Leu Single submitter ⚠
p.Val269Met Single submitter ⚠
p.Val293Ala Single submitter ⚠
p.Val293Met Single submitter ⚠
p.Val297Leu Single submitter ⚠
p.Val327Met Single submitter ⚠
p.Val383Ala Single submitter ⚠
p.Val646Met Single submitter ⚠
p.Val68Met Single submitter ⚠