KDM8 — 80 ClinVar variants
All ClinVar germline KDM8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
12 Likely benign · 68 Uncertain significance
Full KDM8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KDM8 p.Ala142Thr Uncertain significance Single submitter
- KDM8 p.Ala2Asp Uncertain significance Single submitter
- KDM8 p.Ala9Thr Uncertain significance Single submitter
- KDM8 p.Arg153Thr Uncertain significance Single submitter
- KDM8 p.Arg156Cys Uncertain significance Single submitter
- KDM8 p.Arg156Pro Uncertain significance Single submitter
- KDM8 p.Arg186Gln Uncertain significance Single submitter
- KDM8 p.Arg233Gln Uncertain significance Single submitter
- KDM8 p.Arg23Thr Uncertain significance Single submitter
- KDM8 p.Arg60Gly Uncertain significance Single submitter
- KDM8 p.Asp288Gly Uncertain significance Single submitter
-
KDM8 p.Cys123Tyr
Uncertain significance
Single submitter
Coffin-Siris syndrome
- KDM8 p.Gln227Arg Uncertain significance Single submitter
- KDM8 p.Glu257Lys Uncertain significance Single submitter
- KDM8 p.Gly240Ala Uncertain significance Single submitter
- KDM8 p.Gly271Arg Uncertain significance Single submitter
- KDM8 p.Gly38Glu Uncertain significance Single submitter
- KDM8 p.Gly3Arg Uncertain significance Single submitter
- KDM8 p.His172Leu Uncertain significance Single submitter
- KDM8 p.His28Arg Uncertain significance Single submitter
- KDM8 p.His355Tyr Uncertain significance Single submitter
- KDM8 p.Ile175Thr Uncertain significance Single submitter
- KDM8 p.Ile226Met Uncertain significance Single submitter
- KDM8 p.Leu149Val Uncertain significance Single submitter
- KDM8 p.Leu320Pro Uncertain significance Single submitter
- KDM8 p.Leu33Gln Uncertain significance Single submitter
- KDM8 p.Lys30Glu Uncertain significance Single submitter
- KDM8 p.Lys375Thr Uncertain significance Single submitter
- KDM8 p.Pro11Ser Uncertain significance Single submitter
- KDM8 p.Pro154Leu Uncertain significance Single submitter
- KDM8 p.Pro267Ser Uncertain significance Single submitter
- KDM8 p.Thr17Ile Uncertain significance Single submitter
- KDM8 p.Thr360Met Uncertain significance Single submitter
- KDM8 p.Thr83Ala Uncertain significance Single submitter
- KDM8 p.Tyr57Cys Uncertain significance Single submitter
- KDM8 p.Val184Ala Uncertain significance Single submitter
- KDM8 p.Val211Met Uncertain significance Single submitter
- KDM8 p.Val237Ala Uncertain significance Single submitter
- KDM8 p.Val365Met Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- KDM8 p.Arg121Trp Uncertain significance Single submitter
- KDM8 p.Arg186Trp Uncertain significance Single submitter
- KDM8 p.Arg196Met Uncertain significance Single submitter
- KDM8 p.Arg335Met Uncertain significance Single submitter
- KDM8 p.Arg403Trp Uncertain significance Single submitter
- KDM8 p.Gln277His Uncertain significance Single submitter
- KDM8 p.Gln85Pro Uncertain significance Single submitter
- KDM8 p.Gly98Ser Uncertain significance Single submitter
- KDM8 p.Lys397Ile Uncertain significance Single submitter
- KDM8 p.Pro190Leu Uncertain significance Single submitter
- KDM8 p.Pro27Leu Uncertain significance Single submitter
- KDM8 p.Pro283Arg Uncertain significance Single submitter
- KDM8 p.Pro343Leu Uncertain significance Single submitter
- KDM8 p.Pro374Ser Uncertain significance Single submitter
- KDM8 p.Ser416Leu Uncertain significance Single submitter
- KDM8 p.Thr254Met Uncertain significance Single submitter
- KDM8 p.Thr81Met Uncertain significance Single submitter
- KDM8 p.Val206Met Uncertain significance Single submitter
All KDM8 variants
Likely benign 12
- p.Ile97Val Multiple submitters
- c.-19A>T Single submitter
- c.-2C>T Single submitter
- c.-9G>A Single submitter
- p.Ala118Thr Single submitter
- p.Arg268Lys Single submitter
- p.Arg51Gln Single submitter
- p.Arg93Gln Single submitter
- p.Asn256Ser Single submitter
- p.Thr360= Single submitter
- p.Tyr398His Single submitter
- p.Val270Ile Single submitter
Uncertain significance 68
- c.1086+14_1086+21del Single submitter Coffin-Siris syndrome
- c.-20A>C Single submitter
- c.-27G>A Single submitter
- c.-28C>A Single submitter
- c.-32+467A>T Single submitter
- c.-32+481G>T Single submitter
- c.-32+506G>C Single submitter
- c.-32+523C>G Single submitter
- c.-32+533G>C Single submitter
- p.Ala142Thr Single submitter ⚠
- p.Ala2Asp Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg121Trp Single submitter ⚠
- p.Arg153Thr Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg156Pro Single submitter ⚠
- p.Arg186Gln Single submitter ⚠
- p.Arg186Trp Single submitter ⚠
- p.Arg196Met Single submitter ⚠
- p.Arg233Gln Single submitter ⚠
- p.Arg23Thr Single submitter ⚠
- p.Arg335Met Single submitter ⚠
- p.Arg403Trp Single submitter ⚠
- p.Arg60Gly Single submitter ⚠
- p.Asp245Val Single submitter
- p.Asp288Gly Single submitter ⚠
- p.Cys123Tyr Single submitter Coffin-Siris syndrome ⚠
- p.Gln227Arg Single submitter ⚠
- p.Gln277His Single submitter ⚠
- p.Gln85Pro Single submitter ⚠
- p.Glu257Lys Single submitter ⚠
- p.Gly240Ala Single submitter ⚠
- p.Gly271Arg Single submitter ⚠
- p.Gly38Glu Single submitter ⚠
- p.Gly3Arg Single submitter ⚠
- p.Gly98Ser Single submitter ⚠
- p.His172Leu Single submitter ⚠
- p.His28Arg Single submitter ⚠
- p.His355Tyr Single submitter ⚠
- p.Ile175Thr Single submitter ⚠
- p.Ile226Met Single submitter ⚠
- p.Leu149Val Single submitter ⚠
- p.Leu320Pro Single submitter ⚠
- p.Leu33Gln Single submitter ⚠
- p.Lys30Glu Single submitter ⚠
- p.Lys375Thr Single submitter ⚠
- p.Lys397Ile Single submitter ⚠
- p.Pro11Ser Single submitter ⚠
- p.Pro154Leu Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro267Ser Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro283Arg Single submitter ⚠
- p.Pro313Ala Single submitter
- p.Pro343Leu Single submitter ⚠
- p.Pro374Ser Single submitter ⚠
- p.Ser416Leu Single submitter ⚠
- p.Thr17Ile Single submitter ⚠
- p.Thr254Met Single submitter ⚠
- p.Thr360Met Single submitter ⚠
- p.Thr81Met Single submitter ⚠
- p.Thr83Ala Single submitter ⚠
- p.Tyr57Cys Single submitter ⚠
- p.Val184Ala Single submitter ⚠
- p.Val206Met Single submitter ⚠
- p.Val211Met Single submitter ⚠
- p.Val237Ala Single submitter ⚠
- p.Val365Met Single submitter ⚠