PTK2B — 138 ClinVar variants

All ClinVar germline PTK2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

1 Conflicting · 3 Benign · 8 Likely benign · 126 Uncertain significance

Full PTK2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PTK2B p.Arg165His Conflicting Single submitter

Predictors lean, ClinVar uncertain 103

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 14

The independent predictors disagree with each other — read with care.

All PTK2B variants

Conflicting classifications of pathogenicity 1

p.Arg165His Single submitter ⚠

Benign 3

p.Leu178= Multiple submitters
p.Pro413= Multiple submitters
c.1835-9A>G Single submitter

Likely benign 8

p.Gln359Glu Multiple submitters
p.Thr264Asn Multiple submitters
p.Cys545= Single submitter
p.Cys89= Single submitter
p.Glu119= Single submitter
p.Leu850= Single submitter
p.Ser933= Single submitter
p.Val552= Single submitter

Uncertain significance 126

p.Ala258Thr Single submitter ⚠
p.Ala345Thr Single submitter ⚠
p.Ala709Val Single submitter ⚠
p.Ala799Val Single submitter ⚠
p.Ala890Thr Single submitter ⚠
p.Ala890Val Single submitter ⚠
p.Ala964Ser Single submitter ⚠
p.Arg17Cys Single submitter ⚠
p.Arg17His Single submitter ⚠
p.Arg185Trp Single submitter ⚠
p.Arg18Gln Single submitter ⚠
p.Arg18Trp Single submitter ⚠
p.Arg373Trp Single submitter ⚠
p.Arg387Gln Single submitter ⚠
p.Arg411Gln Single submitter ⚠
p.Arg548Ser Single submitter ⚠
p.Arg698Cys Single submitter ⚠
p.Arg700Gln Single submitter ⚠
p.Arg780Gln Single submitter ⚠
p.Arg85Trp Single submitter ⚠
p.Arg861Lys Single submitter ⚠
p.Arg918Trp Single submitter ⚠
p.Arg936Trp Single submitter ⚠
p.Asn252Ser Single submitter ⚠
p.Asn259Ser Single submitter ⚠
p.Asn48Ser Single submitter ⚠
p.Asn544His Single submitter ⚠
p.Asn544Ser Single submitter ⚠
p.Asn729Ser Single submitter ⚠
p.Asn883Asp Single submitter ⚠
p.Asn883Ser Single submitter ⚠
p.Asn989Ile Single submitter ⚠
p.Asp278Tyr Single submitter ⚠
p.Asp293Glu Single submitter ⚠
p.Asp424Tyr Single submitter ⚠
p.Asp665Gly Single submitter
p.Asp688Glu Single submitter ⚠
p.Asp783Asn Single submitter ⚠
p.Cys298Ser Single submitter ⚠
p.Cys298Tyr Single submitter ⚠
p.Gln292Leu Single submitter ⚠
p.Gln693Arg Single submitter ⚠
p.Gln795Arg Single submitter ⚠
p.Gln865Arg Single submitter ⚠
p.Gln865Ter Single submitter
p.Glu1009Val Single submitter ⚠
p.Glu182Gly Single submitter ⚠
p.Glu408Lys Single submitter ⚠
p.Glu469Gly Single submitter ⚠
p.Glu706Lys Single submitter
p.Glu712Asp Single submitter ⚠
p.Glu800Asp Single submitter ⚠
p.Glu886Gly Single submitter ⚠
p.Glu971Asp Single submitter ⚠
p.Gly21Ala Single submitter ⚠
p.Gly21Asp Single submitter ⚠
p.Gly282Arg Single submitter ⚠
p.Gly326Val Single submitter
p.Gly3Glu Single submitter ⚠
p.Gly414Arg Single submitter ⚠
p.Gly491Val Single submitter ⚠
p.Gly636Ala Single submitter ⚠
p.Gly742Ser Single submitter ⚠
p.Gly78Arg Single submitter ⚠
p.Gly81Arg Single submitter ⚠
p.His390Arg Single submitter ⚠
p.Ile401Phe Single submitter ⚠
p.Ile501Phe Single submitter ⚠
p.Ile533Met Single submitter ⚠
p.Ile589Val Single submitter
p.Ile635Phe Single submitter ⚠
p.Ile67Met Single submitter
p.Ile67Val Single submitter ⚠
p.Ile807Met Single submitter ⚠
p.Ile807Val Single submitter ⚠
p.Ile84Leu Single submitter ⚠
p.Ile84Ser Single submitter ⚠
p.Leu241Phe Single submitter ⚠
p.Leu86Phe Single submitter ⚠
p.Lys303Thr Single submitter ⚠
p.Lys564Glu Single submitter ⚠
p.Lys687Gln Single submitter ⚠
p.Lys687Thr Single submitter ⚠
p.Met141Val Single submitter ⚠
p.Met26Thr Single submitter ⚠
p.Met26Val Single submitter ⚠
p.Met344Val Single submitter
p.Met832Val Single submitter ⚠
p.Phe201Leu Single submitter ⚠
p.Phe227Leu Single submitter ⚠
p.Pro1007Ser Single submitter ⚠
p.Pro137Ser Single submitter ⚠
p.Pro22Leu Single submitter ⚠
p.Pro560Ala Single submitter ⚠
p.Pro588Ala Single submitter ⚠
p.Pro645Thr Single submitter ⚠
p.Pro652Leu Single submitter ⚠
p.Pro666Ser Single submitter ⚠
p.Pro724His Single submitter ⚠
p.Pro724Leu Single submitter ⚠
p.Pro757Ser Single submitter ⚠
p.Pro860Ser Single submitter ⚠
p.Ser2Phe Single submitter ⚠
p.Ser473Asn Single submitter ⚠
p.Ser49Asn Single submitter ⚠
p.Ser667Arg Single submitter ⚠
p.Ser678Arg Single submitter ⚠
p.Ser73Thr Single submitter ⚠
p.Ser969Asn Single submitter ⚠
p.Thr253Asn Single submitter
p.Thr603Met Single submitter ⚠
p.Thr604Ala Single submitter ⚠
p.Thr708Ile Single submitter ⚠
p.Thr842Ala Single submitter ⚠
p.Tyr153Cys Single submitter ⚠
p.Tyr513Cys Single submitter ⚠
p.Val123Leu Single submitter ⚠
p.Val123Met Single submitter ⚠
p.Val247Ile Single submitter ⚠
p.Val319Ile Single submitter ⚠
p.Val426Leu Single submitter ⚠
p.Val546Met Single submitter ⚠
p.Val584Ala Single submitter
p.Val608Ile Single submitter ⚠
p.Val613Met Single submitter ⚠
p.Val891Met Single submitter ⚠