ANKRD49 — 14 ClinVar variants
All ClinVar germline ANKRD49 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
2 Likely benign · 12 Uncertain significance
Full ANKRD49 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKRD49 p.Asn7Ser Uncertain significance Single submitter
- ANKRD49 p.Asn85Lys Uncertain significance Single submitter
- ANKRD49 p.Gln162Lys Uncertain significance Single submitter
- ANKRD49 p.Lys58Glu Uncertain significance Single submitter
- ANKRD49 p.Lys97Asn Uncertain significance Single submitter
- ANKRD49 p.Pro111Ser Uncertain significance Single submitter
- ANKRD49 p.Pro177Leu Uncertain significance Single submitter
- ANKRD49 p.Thr154Ala Uncertain significance Single submitter
- ANKRD49 p.Val46Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ANKRD49 variants
Likely benign 2
- p.Arg91Gln Single submitter
- p.Val200Ile Single submitter
Uncertain significance 12
- p.Asn7Ser Single submitter ⚠
- p.Asn85Lys Single submitter ⚠
- p.Gln162Lys Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Glu83Asp Single submitter ⚠
- p.Lys58Glu Single submitter ⚠
- p.Lys97Asn Single submitter ⚠
- p.Met70Lys Single submitter ⚠
- p.Pro111Ser Single submitter ⚠
- p.Pro177Leu Single submitter ⚠
- p.Thr154Ala Single submitter ⚠
- p.Val46Ile Single submitter ⚠