SH3D19 — 128 ClinVar variants
All ClinVar germline SH3D19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
3 Benign · 13 Likely benign · 112 Uncertain significance
Full SH3D19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
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 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SH3D19 c.2083-187G>A Uncertain significance Single submitter
- SH3D19 c.2083-190C>T Uncertain significance Single submitter
- SH3D19 p.Ala373Val Uncertain significance Single submitter
- SH3D19 p.Ala406Val Uncertain significance Single submitter
- SH3D19 p.Ala419Thr Uncertain significance Single submitter
- SH3D19 p.Ala439Gly Uncertain significance Single submitter
- SH3D19 p.Ala451Thr Uncertain significance Single submitter
- SH3D19 p.Ala453Ser Uncertain significance Single submitter
- SH3D19 p.Ala456Thr Uncertain significance Single submitter
- SH3D19 p.Ala746Ser Uncertain significance Single submitter
- SH3D19 p.Ala746Thr Uncertain significance Single submitter
- SH3D19 p.Arg393Gln Uncertain significance Single submitter
- SH3D19 p.Arg402Thr Uncertain significance Single submitter
- SH3D19 p.Arg449Pro Uncertain significance Single submitter
- SH3D19 p.Arg598Gln Uncertain significance Single submitter
- SH3D19 p.Arg682His Uncertain significance Single submitter
- SH3D19 p.Arg695His Uncertain significance Single submitter
- SH3D19 p.Arg737Lys Uncertain significance Single submitter
- SH3D19 p.Arg836Gln Uncertain significance Single submitter
- SH3D19 p.Arg871Gln Uncertain significance Single submitter
- SH3D19 p.Asn388Ile Uncertain significance Single submitter
- SH3D19 p.Asn674Thr Uncertain significance Single submitter
- SH3D19 p.Asp751Gly Uncertain significance Single submitter
- SH3D19 p.Asp962Tyr Uncertain significance Single submitter
- SH3D19 p.Gln616Pro Uncertain significance Single submitter
- SH3D19 p.Gln725Glu Uncertain significance Single submitter
- SH3D19 p.Glu287Lys Uncertain significance Single submitter
- SH3D19 p.Glu347Gly Uncertain significance Single submitter
- SH3D19 p.Glu525Gln Uncertain significance Single submitter
- SH3D19 p.Glu551Gly Uncertain significance Single submitter
- SH3D19 p.Glu851Gln Uncertain significance Single submitter
- SH3D19 p.Gly403Arg Uncertain significance Single submitter
- SH3D19 p.Gly403Trp Uncertain significance Single submitter
- SH3D19 p.Gly594Arg Uncertain significance Single submitter
- SH3D19 p.Gly753Asp Uncertain significance Single submitter
- SH3D19 p.Gly942Ala Uncertain significance Single submitter
- SH3D19 p.Gly965Arg Uncertain significance Single submitter
- SH3D19 p.His589Leu Uncertain significance Single submitter
- SH3D19 p.Ile1014Val Uncertain significance Single submitter
- SH3D19 p.Ile283Val Uncertain significance Single submitter
- SH3D19 p.Ile486Leu Uncertain significance Single submitter
- SH3D19 p.Ile785Val Uncertain significance Single submitter
- SH3D19 p.Ile810Thr Uncertain significance Single submitter
- SH3D19 p.Leu1029Phe Uncertain significance Single submitter
- SH3D19 p.Leu660Val Uncertain significance Single submitter
- SH3D19 p.Leu857Ile Uncertain significance Single submitter
- SH3D19 p.Lys313Asn Uncertain significance Single submitter
- SH3D19 p.Lys631Glu Uncertain significance Single submitter
- SH3D19 p.Lys899Asn Uncertain significance Single submitter
- SH3D19 p.Lys905Glu Uncertain significance Single submitter
- SH3D19 p.Lys980Arg Uncertain significance Single submitter
- SH3D19 p.Met651Val Uncertain significance Single submitter
- SH3D19 p.Met694Leu Uncertain significance Single submitter
- SH3D19 p.Met694Lys Uncertain significance Single submitter
- SH3D19 p.Phe939Ser Uncertain significance Single submitter
- SH3D19 p.Pro389Ala Uncertain significance Single submitter
- SH3D19 p.Pro404Ala Uncertain significance Single submitter
- SH3D19 p.Pro404Leu Uncertain significance Single submitter
- SH3D19 p.Pro404Ser Uncertain significance Single submitter
- SH3D19 p.Pro416Ser Uncertain significance Single submitter
- SH3D19 p.Pro420Arg Uncertain significance Single submitter
- SH3D19 p.Pro420Leu Uncertain significance Single submitter
- SH3D19 p.Pro443Leu Uncertain significance Single submitter
- SH3D19 p.Pro448Leu Uncertain significance Single submitter
- SH3D19 p.Pro471Arg Uncertain significance Single submitter
- SH3D19 p.Pro479Ser Uncertain significance Single submitter
- SH3D19 p.Pro522Ser Uncertain significance Single submitter
- SH3D19 p.Pro557Leu Uncertain significance Single submitter
- SH3D19 p.Pro601Ala Uncertain significance Single submitter
- SH3D19 p.Pro683Ser Uncertain significance Single submitter
- SH3D19 p.Pro974Ser Uncertain significance Single submitter
- SH3D19 p.Ser321Pro Uncertain significance Single submitter
- SH3D19 p.Ser430Phe Uncertain significance Single submitter
- SH3D19 p.Ser573Tyr Uncertain significance Single submitter
- SH3D19 p.Ser909Cys Uncertain significance Single submitter
- SH3D19 p.Ser934Gly Uncertain significance Single submitter
- SH3D19 p.Thr304Arg Uncertain significance Single submitter
- SH3D19 p.Thr365Ser Uncertain significance Single submitter
- SH3D19 p.Thr417Ile Uncertain significance Single submitter
- SH3D19 p.Thr582Ala Uncertain significance Single submitter
- SH3D19 p.Thr705Met Uncertain significance Single submitter
- SH3D19 p.Thr718Ile Uncertain significance Single submitter
- SH3D19 p.Thr904Asn Uncertain significance Single submitter
- SH3D19 p.Tyr1040Cys Uncertain significance Single submitter
- SH3D19 p.Tyr839Cys Uncertain significance Single submitter
- SH3D19 p.Val378Ile Uncertain significance Single submitter
- SH3D19 p.Val415Leu Uncertain significance Single submitter
- SH3D19 p.Val472Phe Uncertain significance Single submitter
- SH3D19 p.Val528Phe Uncertain significance Single submitter
- SH3D19 p.Val671Gly Uncertain significance Single submitter
- SH3D19 p.Val678Glu Uncertain significance Single submitter
- SH3D19 p.Val885Ala Uncertain significance Single submitter
- SH3D19 p.Val972Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- SH3D19 p.Arg320Cys Uncertain significance Single submitter
- SH3D19 p.Arg320His Uncertain significance Single submitter
- SH3D19 p.Arg836Pro Uncertain significance Single submitter
- SH3D19 p.Arg950Pro Uncertain significance Single submitter
- SH3D19 p.His756Leu Uncertain significance Single submitter
- SH3D19 p.Lys991Asn Uncertain significance Single submitter
- SH3D19 p.Phe1036Val Uncertain significance Single submitter
- SH3D19 p.Phe300Leu Uncertain significance Single submitter
- SH3D19 p.Phe801Leu Uncertain significance Single submitter
- SH3D19 p.Pro536Arg Uncertain significance Single submitter
- SH3D19 p.Ser724Phe Uncertain significance Single submitter
-
SH3D19 p.Leu689Pro
Benign
No assertion criteria
SH3D19-related disorder
All SH3D19 variants
Benign 3
- c.1534+9A>G No assertion criteria SH3D19-related disorder
- p.Leu689Pro No assertion criteria SH3D19-related disorder ⚠
- p.Met694Thr No assertion criteria SH3D19-related disorder
Likely benign 13
- c.2083-213A>G Single submitter
- p.Gly452Val Single submitter
- p.Ile392Met Single submitter
- p.Ile800Val Single submitter
- p.Lys829= Single submitter
- p.Pro400Leu Single submitter
- p.Ser95= Single submitter
- p.Thr327Ala Single submitter
- c.2083-245G>A No assertion criteria SH3D19-related disorder
- p.Arg646Gln No assertion criteria SH3D19-related disorder
- p.Arg695Cys No assertion criteria SH3D19-related disorder
- p.Glu886Val No assertion criteria SH3D19-related disorder
- p.Pro677= No assertion criteria SH3D19-related disorder
Uncertain significance 112
- c.2083-187G>A Single submitter ⚠
- c.2083-190C>T Single submitter ⚠
- p.Ala373Val Single submitter ⚠
- p.Ala406Val Single submitter ⚠
- p.Ala419Thr Single submitter ⚠
- p.Ala439Gly Single submitter ⚠
- p.Ala451Thr Single submitter ⚠
- p.Ala453Ser Single submitter ⚠
- p.Ala456Thr Single submitter ⚠
- p.Ala746Ser Single submitter ⚠
- p.Ala746Thr Single submitter ⚠
- p.Ala994Gly Single submitter
- p.Arg320Cys Single submitter ⚠
- p.Arg320His Single submitter ⚠
- p.Arg393Gln Single submitter ⚠
- p.Arg402Thr Single submitter ⚠
- p.Arg449Pro Single submitter ⚠
- p.Arg540Gln Single submitter
- p.Arg598Gln Single submitter ⚠
- p.Arg682His Single submitter ⚠
- p.Arg695His Single submitter ⚠
- p.Arg737Lys Single submitter ⚠
- p.Arg836Gln Single submitter ⚠
- p.Arg836Pro Single submitter ⚠
- p.Arg871Gln Single submitter ⚠
- p.Arg950Pro Single submitter ⚠
- p.Asn388Ile Single submitter ⚠
- p.Asn674Thr Single submitter ⚠
- p.Asp751Gly Single submitter ⚠
- p.Asp962Tyr Single submitter ⚠
- p.Cys833Tyr Single submitter
- p.Gln616Pro Single submitter ⚠
- p.Gln725Glu Single submitter ⚠
- p.Glu287Lys Single submitter ⚠
- p.Glu347Gly Single submitter ⚠
- p.Glu525Gln Single submitter ⚠
- p.Glu551Gly Single submitter ⚠
- p.Glu851Gln Single submitter ⚠
- p.Gly403Arg Single submitter ⚠
- p.Gly403Trp Single submitter ⚠
- p.Gly594Arg Single submitter ⚠
- p.Gly753Asp Single submitter ⚠
- p.Gly852Ala Single submitter
- p.Gly942Ala Single submitter ⚠
- p.Gly965Arg Single submitter ⚠
- p.His589Leu Single submitter ⚠
- p.His756Leu Single submitter ⚠
- p.Ile1014Val Single submitter ⚠
- p.Ile283Val Single submitter ⚠
- p.Ile486Leu Single submitter ⚠
- p.Ile785Val Single submitter ⚠
- p.Ile810Thr Single submitter ⚠
- p.Leu1029Phe Single submitter ⚠
- p.Leu559Phe Single submitter
- p.Leu660Val Single submitter ⚠
- p.Leu857Ile Single submitter ⚠
- p.Lys313Asn Single submitter ⚠
- p.Lys631Glu Single submitter ⚠
- p.Lys899Asn Single submitter ⚠
- p.Lys905Glu Single submitter ⚠
- p.Lys980Arg Single submitter ⚠
- p.Lys991Asn Single submitter ⚠
- p.Met651Val Single submitter ⚠
- p.Met694Leu Single submitter ⚠
- p.Met694Lys Single submitter ⚠
- p.Phe1036Val Single submitter ⚠
- p.Phe300Leu Single submitter ⚠
- p.Phe801Leu Single submitter ⚠
- p.Phe939Ser Single submitter ⚠
- p.Pro389Ala Single submitter ⚠
- p.Pro404Ala Single submitter ⚠
- p.Pro404Leu Single submitter ⚠
- p.Pro404Ser Single submitter ⚠
- p.Pro416Ser Single submitter ⚠
- p.Pro420Arg Single submitter ⚠
- p.Pro420Leu Single submitter ⚠
- p.Pro443Leu Single submitter ⚠
- p.Pro448Leu Single submitter ⚠
- p.Pro471Arg Single submitter ⚠
- p.Pro479Ser Single submitter ⚠
- p.Pro522Ser Single submitter ⚠
- p.Pro536Arg Single submitter ⚠
- p.Pro557Leu Single submitter ⚠
- p.Pro601Ala Single submitter ⚠
- p.Pro630Gln Single submitter
- p.Pro630Ser Single submitter
- p.Pro683Ser Single submitter ⚠
- p.Pro974Ser Single submitter ⚠
- p.Ser321Pro Single submitter ⚠
- p.Ser430Phe Single submitter ⚠
- p.Ser573Tyr Single submitter ⚠
- p.Ser724Phe Single submitter ⚠
- p.Ser909Cys Single submitter ⚠
- p.Ser934Gly Single submitter ⚠
- p.Thr304Arg Single submitter ⚠
- p.Thr365Ser Single submitter ⚠
- p.Thr417Ile Single submitter ⚠
- p.Thr582Ala Single submitter ⚠
- p.Thr705Met Single submitter ⚠
- p.Thr718Ile Single submitter ⚠
- p.Thr904Asn Single submitter ⚠
- p.Tyr1040Cys Single submitter ⚠
- p.Tyr839Cys Single submitter ⚠
- p.Tyr996Cys Single submitter
- p.Val378Ile Single submitter ⚠
- p.Val415Leu Single submitter ⚠
- p.Val472Phe Single submitter ⚠
- p.Val528Phe Single submitter ⚠
- p.Val671Gly Single submitter ⚠
- p.Val678Glu Single submitter ⚠
- p.Val885Ala Single submitter ⚠
- p.Val972Met Single submitter ⚠