IK — 43 ClinVar variants
All ClinVar germline IK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
2 Benign · 1 Benign/Likely benign · 2 Likely benign · 38 Uncertain significance
Full IK 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.
- IK p.Arg214Cys Uncertain significance Single submitter
- IK p.Arg334Gln Uncertain significance Single submitter
- IK p.Arg480His Uncertain significance Single submitter
- IK p.Asn317His Uncertain significance Single submitter
- IK p.Asn411Ser Uncertain significance Single submitter
- IK p.Asp16Asn Uncertain significance Single submitter
- IK p.Gly399Glu Uncertain significance Single submitter
- IK p.His18Arg Uncertain significance Single submitter
- IK p.Leu435Val Uncertain significance Single submitter
- IK p.Lys191Glu Uncertain significance Single submitter
- IK p.Met441Thr Uncertain significance Single submitter
- IK p.Pro500Leu Uncertain significance Single submitter
- IK p.Ser180Ile Uncertain significance Single submitter
- IK p.Ser417Phe Uncertain significance Single submitter
- IK p.Val20Met Uncertain significance Single submitter
- IK p.Val326Ile Uncertain significance Single submitter
- IK p.Val389Leu Uncertain significance Single submitter
- IK p.Val396Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- IK p.Ala14Asp Uncertain significance Single submitter
- IK p.Arg214His Uncertain significance Single submitter
- IK p.Arg342Gln Uncertain significance Single submitter
- IK p.Arg342Trp Uncertain significance Single submitter
- IK p.Arg344Gln Uncertain significance Single submitter
- IK p.Arg346Cys Uncertain significance Single submitter
- IK p.Arg346His Uncertain significance Single submitter
- IK p.Arg354Cys Uncertain significance Single submitter
- IK p.Arg356Gln Uncertain significance Single submitter
- IK p.Arg358Gln Uncertain significance Single submitter
- IK p.Arg370Gln Uncertain significance Single submitter
- IK p.Glu94Ala Uncertain significance Single submitter
- IK p.Leu272Val Uncertain significance Single submitter
- IK p.Pro327His Uncertain significance Single submitter
- IK p.Pro387Leu Uncertain significance Single submitter
- IK p.Ser402Cys Uncertain significance Single submitter
- IK p.Thr42Ser Uncertain significance Single submitter
All IK variants
Benign 2
- c.1646+6C>T Single submitter
- p.Phe9= Single submitter
Benign/Likely benign 1
- c.16+84GT[20] Multiple submitters
Likely benign 2
- p.Ala418Thr Single submitter
- p.Thr403Ala Single submitter
Uncertain significance 38
- p.Ala14Asp Single submitter ⚠
- p.Ala446Ser Single submitter
- p.Arg214Cys Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg334Gln Single submitter ⚠
- p.Arg342Gln Single submitter ⚠
- p.Arg342Trp Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg346Cys Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg354Cys Single submitter ⚠
- p.Arg356Gln Single submitter ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg370Gln Single submitter ⚠
- p.Arg480His Single submitter ⚠
- p.Asn317His Single submitter ⚠
- p.Asn411Ser Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Glu94Ala Single submitter ⚠
- p.Gly399Glu Single submitter ⚠
- p.His18Arg Single submitter ⚠
- p.Leu272Val Single submitter ⚠
- p.Leu435Val Single submitter ⚠
- p.Lys191Glu Single submitter ⚠
- p.Met441Thr Single submitter ⚠
- p.Pro2Arg Single submitter
- p.Pro327His Single submitter ⚠
- p.Pro387Leu Single submitter ⚠
- p.Pro500Leu Single submitter ⚠
- p.Ser180Ile Single submitter ⚠
- p.Ser402Cys Single submitter ⚠
- p.Ser417Phe Single submitter ⚠
- p.Thr270Ala Single submitter
- p.Thr42Ser Single submitter ⚠
- p.Val20Met Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val389Leu Single submitter ⚠
- p.Val396Ile Single submitter ⚠