PTK6 — 84 ClinVar variants
All ClinVar germline PTK6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
1 Benign · 3 Likely benign · 80 Uncertain significance
Full PTK6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTK6 p.Ala123Asp Uncertain significance Single submitter
- PTK6 p.Ala168Thr Uncertain significance Single submitter
- PTK6 p.Ala249Val Uncertain significance Single submitter
- PTK6 p.Ala396Asp Uncertain significance Single submitter
- PTK6 p.Ala402Thr Uncertain significance Single submitter
- PTK6 p.Arg131Gln Uncertain significance Single submitter
- PTK6 p.Arg136Pro Uncertain significance Single submitter
- PTK6 p.Arg136Trp Uncertain significance Single submitter
- PTK6 p.Arg165Gln Uncertain significance Single submitter
- PTK6 p.Arg171Gly Uncertain significance Single submitter
- PTK6 p.Arg188Lys Uncertain significance Single submitter
- PTK6 p.Arg30Cys Uncertain significance Single submitter
- PTK6 p.Arg361Gln Uncertain significance Single submitter
- PTK6 p.Arg438Gln Uncertain significance Single submitter
- PTK6 p.Arg438Trp Uncertain significance Single submitter
- PTK6 p.Arg4Trp Uncertain significance Single submitter
- PTK6 p.Arg90Cys Uncertain significance Single submitter
- PTK6 p.Asn348Asp Uncertain significance Single submitter
- PTK6 p.Asp182Asn Uncertain significance Single submitter
- PTK6 p.Asp258Glu Uncertain significance Single submitter
- PTK6 p.Asp312Asn Uncertain significance Single submitter
- PTK6 p.Asp340Asn Uncertain significance Single submitter
- PTK6 p.Asp346Gly Uncertain significance Single submitter
- PTK6 p.Asp369Asn Uncertain significance Single submitter
- PTK6 p.Asp5Val Uncertain significance Single submitter
- PTK6 p.Glu150Ala Uncertain significance Single submitter
- PTK6 p.Glu42Gln Uncertain significance Single submitter
- PTK6 p.Glu42Lys Uncertain significance Single submitter
- PTK6 p.Glu52Lys Uncertain significance Single submitter
- PTK6 p.Gly100Val Uncertain significance Single submitter
- PTK6 p.Gly10Ala Uncertain significance Single submitter
- PTK6 p.Gly15Ser Uncertain significance Single submitter
- PTK6 p.Gly163Ser Uncertain significance Single submitter
- PTK6 p.Gly200Ser Uncertain significance Single submitter
- PTK6 p.Gly329Arg Uncertain significance Single submitter
- PTK6 p.Gly362Ser Uncertain significance Single submitter
- PTK6 p.His162Leu Uncertain significance Single submitter
- PTK6 p.Ile262Val Uncertain significance Single submitter
- PTK6 p.Leu437Pro Uncertain significance Single submitter
- PTK6 p.Lys435Glu Uncertain significance Single submitter
- PTK6 p.Met267Thr Uncertain significance Single submitter
- PTK6 p.Phe202Ser Uncertain significance Single submitter
- PTK6 p.Pro110Gln Uncertain significance Single submitter
- PTK6 p.Pro110Leu Uncertain significance Single submitter
- PTK6 p.Pro285Ser Uncertain significance Single submitter
- PTK6 p.Pro432Thr Uncertain significance Single submitter
- PTK6 p.Pro450Arg Uncertain significance Single submitter
- PTK6 p.Ser107Ile Uncertain significance Single submitter
- PTK6 p.Ser159Thr Uncertain significance Single submitter
- PTK6 p.Ser199Phe Uncertain significance Single submitter
- PTK6 p.Ser365Phe Uncertain significance Single submitter
- PTK6 p.Thr121Met Uncertain significance Single submitter
- PTK6 p.Thr192Met Uncertain significance Single submitter
- PTK6 p.Thr48Met Uncertain significance Single submitter
- PTK6 p.Thr99Met Uncertain significance Single submitter
- PTK6 p.Trp353Arg Uncertain significance Single submitter
- PTK6 p.Val106Ile Uncertain significance Single submitter
- PTK6 p.Val260Ala Uncertain significance Single submitter
- PTK6 p.Val260Met Uncertain significance Single submitter
- PTK6 p.Val73Met Uncertain significance Single submitter
-
PTK6 p.Pro356Thr
Uncertain significance
No assertion criteria
keratoconus
Predictors split 15
The independent predictors disagree with each other — read with care.
- PTK6 p.Ala315Thr Uncertain significance Single submitter
- PTK6 p.Ala358Val Uncertain significance Single submitter
- PTK6 p.Arg119Trp Uncertain significance Single submitter
- PTK6 p.Arg243Trp Uncertain significance Single submitter
- PTK6 p.Arg277Cys Uncertain significance Single submitter
- PTK6 p.Arg405Cys Uncertain significance Single submitter
- PTK6 p.Arg85His Uncertain significance Single submitter
- PTK6 p.Arg91Trp Uncertain significance Single submitter
- PTK6 p.Gly134Arg Uncertain significance Single submitter
- PTK6 p.Gly257Ala Uncertain significance Single submitter
- PTK6 p.Gly403Ser Uncertain significance Single submitter
- PTK6 p.Pro187Leu Uncertain significance Single submitter
- PTK6 p.Pro413Leu Uncertain significance Single submitter
- PTK6 p.Thr354Met Uncertain significance Single submitter
- PTK6 p.Thr72Met Uncertain significance Single submitter
All PTK6 variants
Benign 1
- p.Arg125= Multiple submitters
Likely benign 3
- p.Arg171Trp Single submitter
- p.His36= Single submitter
- p.Pro149Ser Single submitter
Uncertain significance 80
- p.Ala123Asp Single submitter ⚠
- p.Ala168Thr Single submitter ⚠
- p.Ala249Val Single submitter ⚠
- p.Ala315Thr Single submitter ⚠
- p.Ala358Val Single submitter ⚠
- p.Ala396Asp Single submitter ⚠
- p.Ala402Thr Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg136Pro Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg165Gln Single submitter ⚠
- p.Arg171Gly Single submitter ⚠
- p.Arg188Lys Single submitter ⚠
- p.Arg243Trp Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg30Cys Single submitter ⚠
- p.Arg361Gln Single submitter ⚠
- p.Arg405Cys Single submitter ⚠
- p.Arg438Gln Single submitter ⚠
- p.Arg438Trp Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Arg85His Single submitter ⚠
- p.Arg90Cys Single submitter ⚠
- p.Arg91Trp Single submitter ⚠
- p.Asn348Asp Single submitter ⚠
- p.Asp182Asn Single submitter ⚠
- p.Asp258Glu Single submitter ⚠
- p.Asp312Asn Single submitter ⚠
- p.Asp340Asn Single submitter ⚠
- p.Asp346Gly Single submitter ⚠
- p.Asp369Asn Single submitter ⚠
- p.Asp5Val Single submitter ⚠
- p.Glu150Ala Single submitter ⚠
- p.Glu42Gln Single submitter ⚠
- p.Glu42Lys Single submitter ⚠
- p.Glu52Lys Single submitter ⚠
- p.Gly100Val Single submitter ⚠
- p.Gly10Ala Single submitter ⚠
- p.Gly134Arg Single submitter ⚠
- p.Gly15Ser Single submitter ⚠
- p.Gly163Ser Single submitter ⚠
- p.Gly200Ser Single submitter ⚠
- p.Gly257Ala Single submitter ⚠
- p.Gly329Arg Single submitter ⚠
- p.Gly362Ser Single submitter ⚠
- p.Gly403Ser Single submitter ⚠
- p.His162Leu Single submitter ⚠
- p.His246Gln Single submitter
- p.Ile262Val Single submitter ⚠
- p.Ile337Thr Single submitter
- p.Leu333Phe Single submitter
- p.Leu437Pro Single submitter ⚠
- p.Lys367Glu Single submitter
- p.Lys435Glu Single submitter ⚠
- p.Met267Thr Single submitter ⚠
- p.Phe202Ser Single submitter ⚠
- p.Pro110Gln Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro187Leu Single submitter ⚠
- p.Pro285Ser Single submitter ⚠
- p.Pro413Leu Single submitter ⚠
- p.Pro432Thr Single submitter ⚠
- p.Pro450Arg Single submitter ⚠
- p.Ser107Ile Single submitter ⚠
- p.Ser159Thr Single submitter ⚠
- p.Ser199Phe Single submitter ⚠
- p.Ser365Phe Single submitter ⚠
- p.Thr121Met Single submitter ⚠
- p.Thr192Met Single submitter ⚠
- p.Thr354Met Single submitter ⚠
- p.Thr48Met Single submitter ⚠
- p.Thr72Met Single submitter ⚠
- p.Thr99Met Single submitter ⚠
- p.Trp353Arg Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val260Ala Single submitter ⚠
- p.Val260Met Single submitter ⚠
- p.Val73Met Single submitter ⚠
- p.Pro356Thr No assertion criteria keratoconus ⚠