CYTH1 — 39 ClinVar variants
All ClinVar germline CYTH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
39 Uncertain significance
Full CYTH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYTH1 p.Arg397Gln Uncertain significance Single submitter
- CYTH1 p.Asn123Asp Uncertain significance Single submitter
- CYTH1 p.Asp114His Uncertain significance Single submitter
- CYTH1 p.Asp4Asn Uncertain significance Single submitter
- CYTH1 p.Asp76Gly Uncertain significance Single submitter
- CYTH1 p.Asp88Glu Uncertain significance Single submitter
- CYTH1 p.Gln174Pro Uncertain significance Single submitter
- CYTH1 p.Gly52Glu Uncertain significance Single submitter
- CYTH1 p.Lys319Arg Uncertain significance Single submitter
- CYTH1 p.Lys365Glu Uncertain significance Single submitter
- CYTH1 p.Met60Val Uncertain significance Single submitter
- CYTH1 p.Phe122Leu Uncertain significance Single submitter
- CYTH1 p.Pro228Leu Uncertain significance Single submitter
- CYTH1 p.Ser190Phe Uncertain significance Single submitter
- CYTH1 p.Ser6Arg Uncertain significance Single submitter
- CYTH1 p.Thr210Ser Uncertain significance Single submitter
- CYTH1 p.Thr395Met Uncertain significance Single submitter
- CYTH1 p.Tyr236Cys Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CYTH1 p.Arg219Gln Uncertain significance Single submitter
- CYTH1 p.Arg313Gln Uncertain significance Single submitter
- CYTH1 p.Asn202Ser Uncertain significance Single submitter
- CYTH1 p.Asn204Ser Uncertain significance Single submitter
- CYTH1 p.Asn222Ser Uncertain significance Single submitter
- CYTH1 p.Asn288Ser Uncertain significance Single submitter
- CYTH1 p.Asn46Lys Uncertain significance Single submitter
- CYTH1 p.Asn50Lys Uncertain significance Single submitter
- CYTH1 p.Asp262Glu Uncertain significance Single submitter
- CYTH1 p.Asp39Asn Uncertain significance Single submitter
- CYTH1 p.Gln82His Uncertain significance Single submitter
- CYTH1 p.Glu342Lys Uncertain significance Single submitter
- CYTH1 p.His256Tyr Uncertain significance Single submitter
- CYTH1 p.Ile193Val Uncertain significance Single submitter
- CYTH1 p.Ile246Met Uncertain significance Single submitter
- CYTH1 p.Lys72Arg Uncertain significance Single submitter
- CYTH1 p.Ser238Thr Uncertain significance Single submitter
All CYTH1 variants
Uncertain significance 39
- c.699+1G>C Single submitter
- p.Arg171Gln Single submitter
- p.Arg219Gln Single submitter ⚠
- p.Arg313Gln Single submitter ⚠
- p.Arg397Gln Single submitter ⚠
- p.Asn123Asp Single submitter ⚠
- p.Asn202Ser Single submitter ⚠
- p.Asn204Ser Single submitter ⚠
- p.Asn222Ser Single submitter ⚠
- p.Asn288Ser Single submitter ⚠
- p.Asn46Lys Single submitter ⚠
- p.Asn50Lys Single submitter ⚠
- p.Asp114His Single submitter ⚠
- p.Asp138Gly Single submitter
- p.Asp262Glu Single submitter ⚠
- p.Asp39Asn Single submitter ⚠
- p.Asp4Asn Single submitter ⚠
- p.Asp76Gly Single submitter ⚠
- p.Asp88Glu Single submitter ⚠
- p.Gln174Pro Single submitter ⚠
- p.Gln82His Single submitter ⚠
- p.Glu342Lys Single submitter ⚠
- p.Gly52Glu Single submitter ⚠
- p.His256Tyr Single submitter ⚠
- p.Ile193Val Single submitter ⚠
- p.Ile246Met Single submitter ⚠
- p.Lys319Arg Single submitter ⚠
- p.Lys365Glu Single submitter ⚠
- p.Lys72Arg Single submitter ⚠
- p.Met60Val Single submitter ⚠
- p.Phe122Leu Single submitter ⚠
- p.Pro228Gln Single submitter
- p.Pro228Leu Single submitter ⚠
- p.Ser190Phe Single submitter ⚠
- p.Ser238Thr Single submitter ⚠
- p.Ser6Arg Single submitter ⚠
- p.Thr210Ser Single submitter ⚠
- p.Thr395Met Single submitter ⚠
- p.Tyr236Cys Single submitter ⚠