SYVN1 — 74 ClinVar variants
All ClinVar germline SYVN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
2 Benign · 2 Likely benign · 70 Uncertain significance
Full SYVN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SYVN1 p.Tyr23Cys
Uncertain significance
Multiple submitters
Delayed speech and language development
-
SYVN1 p.Ala13Val
Uncertain significance
Single submitter
Delayed speech and language development
- SYVN1 p.Ala22Val Uncertain significance Single submitter
- SYVN1 p.Ala340Val Uncertain significance Single submitter
- SYVN1 p.Ala411Glu Uncertain significance Single submitter
- SYVN1 p.Ala425Thr Uncertain significance Single submitter
- SYVN1 p.Ala502Thr Uncertain significance Single submitter
- SYVN1 p.Ala583Val Uncertain significance Single submitter
- SYVN1 p.Ala616Thr Uncertain significance Single submitter
- SYVN1 p.Ala84Thr Uncertain significance Single submitter
- SYVN1 p.Arg102His Uncertain significance Single submitter
- SYVN1 p.Arg129His Uncertain significance Single submitter
- SYVN1 p.Arg270Cys Uncertain significance Single submitter
- SYVN1 p.Arg270Gly Uncertain significance Single submitter
- SYVN1 p.Arg416Gln Uncertain significance Single submitter
- SYVN1 p.Arg490Gln Uncertain significance Single submitter
- SYVN1 p.Arg535Gln Uncertain significance Single submitter
- SYVN1 p.Arg607Cys Uncertain significance Single submitter
- SYVN1 p.Asp595Glu Uncertain significance Single submitter
- SYVN1 p.Asp599Asn Uncertain significance Single submitter
- SYVN1 p.Asp599Gly Uncertain significance Single submitter
- SYVN1 p.Gln609Arg Uncertain significance Single submitter
- SYVN1 p.Gln68His Uncertain significance Single submitter
- SYVN1 p.Glu447Gln Uncertain significance Single submitter
- SYVN1 p.Glu577Gly Uncertain significance Single submitter
- SYVN1 p.Gly352Glu Uncertain significance Single submitter
- SYVN1 p.Gly427Ala Uncertain significance Single submitter
- SYVN1 p.Gly588Ser Uncertain significance Single submitter
- SYVN1 p.Leu154Phe Uncertain significance Single submitter
- SYVN1 p.Leu338Pro Uncertain significance Single submitter
- SYVN1 p.Met145Thr Uncertain significance Single submitter
- SYVN1 p.Met212Val Uncertain significance Single submitter
- SYVN1 p.Met592Thr Uncertain significance Single submitter
- SYVN1 p.Phe29Val Uncertain significance Single submitter
- SYVN1 p.Pro346Leu Uncertain significance Single submitter
- SYVN1 p.Pro348Leu Uncertain significance Single submitter
- SYVN1 p.Pro359His Uncertain significance Single submitter
- SYVN1 p.Pro387Ser Uncertain significance Single submitter
- SYVN1 p.Pro395Leu Uncertain significance Single submitter
- SYVN1 p.Pro473Ala Uncertain significance Single submitter
- SYVN1 p.Pro475Ser Uncertain significance Single submitter
- SYVN1 p.Pro478Ala Uncertain significance Single submitter
- SYVN1 p.Pro573Ser Uncertain significance Single submitter
- SYVN1 p.Pro574Ser Uncertain significance Single submitter
- SYVN1 p.Ser337Leu Uncertain significance Single submitter
- SYVN1 p.Ser418Ile Uncertain significance Single submitter
- SYVN1 p.Ser429Gly Uncertain significance Single submitter
- SYVN1 p.Ser542Ala Uncertain significance Single submitter
- SYVN1 p.Thr328Ile Uncertain significance Single submitter
- SYVN1 p.Thr512Ala Uncertain significance Single submitter
- SYVN1 p.Thr549Arg Uncertain significance Single submitter
- SYVN1 p.Thr565Lys Uncertain significance Single submitter
- SYVN1 p.Val197Leu Uncertain significance Single submitter
- SYVN1 p.Val333Ile Uncertain significance Single submitter
- SYVN1 p.Val85Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- SYVN1 p.Ala279Val Uncertain significance Single submitter
- SYVN1 p.Arg3Cys Uncertain significance Single submitter
- SYVN1 p.Arg497Trp Uncertain significance Single submitter
- SYVN1 p.Arg503Gln Uncertain significance Single submitter
- SYVN1 p.Arg605Trp Uncertain significance Single submitter
- SYVN1 p.Arg606His Uncertain significance Single submitter
- SYVN1 p.Asp97Glu Uncertain significance Single submitter
- SYVN1 p.Gly380Val Uncertain significance Single submitter
- SYVN1 p.Gly494Asp Uncertain significance Single submitter
- SYVN1 p.Phe369Leu Uncertain significance Single submitter
- SYVN1 p.Pro458Thr Uncertain significance Single submitter
- SYVN1 p.Ser11Thr Uncertain significance Single submitter
- SYVN1 p.Ser438Cys Uncertain significance Single submitter
- SYVN1 p.Thr431Ile Uncertain significance Single submitter
All SYVN1 variants
Benign 2
- p.Ala336= Multiple submitters
- p.His358Pro Multiple submitters
Likely benign 2
- p.Asn541Ser Single submitter
- p.Val551Ala Single submitter
Uncertain significance 70
- p.Tyr23Cys Multiple submitters Delayed speech and language development ⚠
- p.Ala13Val Single submitter Delayed speech and language development ⚠
- p.Ala22Val Single submitter ⚠
- p.Ala279Val Single submitter ⚠
- p.Ala340Val Single submitter ⚠
- p.Ala411Glu Single submitter ⚠
- p.Ala425Thr Single submitter ⚠
- p.Ala502Thr Single submitter ⚠
- p.Ala583Val Single submitter ⚠
- p.Ala616Thr Single submitter ⚠
- p.Ala84Thr Single submitter ⚠
- p.Arg102His Single submitter ⚠
- p.Arg129His Single submitter ⚠
- p.Arg270Cys Single submitter ⚠
- p.Arg270Gly Single submitter ⚠
- p.Arg3Cys Single submitter ⚠
- p.Arg416Gln Single submitter ⚠
- p.Arg490Gln Single submitter ⚠
- p.Arg497Trp Single submitter ⚠
- p.Arg503Gln Single submitter ⚠
- p.Arg535Gln Single submitter ⚠
- p.Arg605Trp Single submitter ⚠
- p.Arg606His Single submitter ⚠
- p.Arg607Cys Single submitter ⚠
- p.Asn289Thr Single submitter
- p.Asp595Glu Single submitter ⚠
- p.Asp599Asn Single submitter ⚠
- p.Asp599Gly Single submitter ⚠
- p.Asp97Glu Single submitter ⚠
- p.Gln609Arg Single submitter ⚠
- p.Gln68His Single submitter ⚠
- p.Glu447Gln Single submitter ⚠
- p.Glu577Gly Single submitter ⚠
- p.Gly352Glu Single submitter ⚠
- p.Gly380Val Single submitter ⚠
- p.Gly427Ala Single submitter ⚠
- p.Gly494Asp Single submitter ⚠
- p.Gly588Ser Single submitter ⚠
- p.Leu154Phe Single submitter ⚠
- p.Leu338Pro Single submitter ⚠
- p.Met145Thr Single submitter ⚠
- p.Met212Val Single submitter ⚠
- p.Met592Thr Single submitter ⚠
- p.Phe29Val Single submitter ⚠
- p.Phe369Leu Single submitter ⚠
- p.Pro346Leu Single submitter ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro359His Single submitter ⚠
- p.Pro387Ser Single submitter ⚠
- p.Pro395Leu Single submitter ⚠
- p.Pro458Thr Single submitter ⚠
- p.Pro473Ala Single submitter ⚠
- p.Pro475Ser Single submitter ⚠
- p.Pro478Ala Single submitter ⚠
- p.Pro573Ser Single submitter ⚠
- p.Pro574Ser Single submitter ⚠
- p.Ser11Thr Single submitter ⚠
- p.Ser337Leu Single submitter ⚠
- p.Ser418Ile Single submitter ⚠
- p.Ser429Gly Single submitter ⚠
- p.Ser438Cys Single submitter ⚠
- p.Ser542Ala Single submitter ⚠
- p.Thr328Ile Single submitter ⚠
- p.Thr431Ile Single submitter ⚠
- p.Thr512Ala Single submitter ⚠
- p.Thr549Arg Single submitter ⚠
- p.Thr565Lys Single submitter ⚠
- p.Val197Leu Single submitter ⚠
- p.Val333Ile Single submitter ⚠
- p.Val85Ile Single submitter ⚠