ANKRD36 — 23 ClinVar variants
All ClinVar germline ANKRD36 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
2 Likely pathogenic · 2 Benign · 19 Likely benign
Full ANKRD36 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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ANKRD36 p.Ser863Arg
Likely pathogenic
No assertion criteria
hearing loss, autosomal recessive
All ANKRD36 variants
Likely pathogenic 2
- c.2479-1G>A No assertion criteria hearing loss, autosomal recessive
- p.Ser863Arg No assertion criteria hearing loss, autosomal recessive ⚠
Benign 2
- c.3878-3dup Single submitter
- p.Gln1911fs No assertion criteria acromesomelic dysplasia 2B
Likely benign 19
- c.2173-3A>C Single submitter
- c.-4G>C Single submitter
- p.Ala228= Single submitter
- p.Asp404= Single submitter
- p.Asp558= Single submitter
- p.Cys1792= Single submitter
- p.Cys445= Single submitter
- p.Gly1189= Single submitter
- p.Gly295= Single submitter
- p.Gly4Asp Single submitter
- p.His42Arg Single submitter
- p.Leu1481= Single submitter
- p.Leu1734= Single submitter
- p.Leu1910= Single submitter
- p.Lys5Glu Single submitter
- p.Met1Lys Single submitter
- p.Pro528= Single submitter
- p.Thr488= Single submitter
- p.Tyr1569= Single submitter