PTK2 — 119 ClinVar variants

All ClinVar germline PTK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

1 Conflicting · 10 Benign · 1 Benign/Likely benign · 11 Likely benign · 96 Uncertain significance

Full PTK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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.

PTK2 p.Ala823Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 66

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

Predictors split 21

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

All PTK2 variants

Conflicting classifications of pathogenicity 1

p.Ala823Thr Single submitter ⚠

Benign 10

c.*705T>A Multiple submitters
p.Arg349= Multiple submitters
p.Asp703= Multiple submitters
p.Pro690= Multiple submitters
p.Ser355= Multiple submitters
p.Tyr969= Multiple submitters
p.Val215= Multiple submitters
c.1177+9092T>G Single submitter
c.-18C>T Single submitter
p.Ala989= Single submitter

Benign/Likely benign 1

p.Glu870= Multiple submitters

Likely benign 11

p.Asn1043Ser Single submitter
p.Gly103= Single submitter
p.His387= Single submitter
p.Ile434= Single submitter
p.Ile528= Single submitter
p.Leu975= Single submitter
p.Pro249= Single submitter
p.Pro764= Single submitter
p.Pro774= Single submitter
p.Ser305= Single submitter
p.Val584= Single submitter

Uncertain significance 96

p.Arg855Ter Multiple submitters autism
c.1859-2A>G Single submitter
c.2265+2T>G Single submitter
p.Ala1085Thr Single submitter ⚠
p.Ala53Thr Single submitter ⚠
p.Ala796Val Single submitter ⚠
p.Ala912Thr Single submitter ⚠
p.Arg178Gln Single submitter
p.Arg35Gln Single submitter ⚠
p.Arg65Lys Single submitter ⚠
p.Arg675Gln Single submitter ⚠
p.Arg709Ser Single submitter ⚠
p.Arg855Gln Single submitter ⚠
p.Arg865Cys Single submitter ⚠
p.Arg865His Single submitter ⚠
p.Arg882Gln Single submitter ⚠
p.Arg919Cys Single submitter ⚠
p.Arg91Trp Single submitter ⚠
p.Asn145Ser Single submitter ⚠
p.Asn499Lys Single submitter ⚠
p.Asn534Lys Single submitter ⚠
p.Asn598Asp Single submitter ⚠
p.Asn598Ser Single submitter ⚠
p.Asn781Ser Single submitter ⚠
p.Asn960Ser Single submitter ⚠
p.Asp836Glu Single submitter ⚠
p.Asp877Glu Single submitter ⚠
p.Asp962Glu Single submitter ⚠
p.Asp966Tyr Single submitter ⚠
p.Cys348Ser Single submitter ⚠
p.Gln459Glu Single submitter ⚠
p.Gln739His Single submitter ⚠
p.Gln805Arg Single submitter ⚠
p.Glu118Asp Single submitter ⚠
p.Glu158Asp Single submitter ⚠
p.Glu278Asp Single submitter ⚠
p.Glu830Lys Single submitter ⚠
p.Glu859Gln Single submitter ⚠
p.Glu941Lys Single submitter
p.Gly202Ser Single submitter ⚠
p.Gly275Ser Single submitter ⚠
p.Gly769Arg Single submitter ⚠
p.Gly921Ala Single submitter ⚠
p.Gly924Ser Single submitter ⚠
p.Gly942Ser Single submitter ⚠
p.His521Tyr Single submitter ⚠
p.Ile336Thr Single submitter ⚠
p.Ile463Val Single submitter ⚠
p.Ile801Met Single submitter ⚠
p.Ile822Thr Single submitter ⚠
p.Ile986Thr Single submitter ⚠
p.Leu1065Gln Single submitter ⚠
p.Leu1090Pro Single submitter ⚠
p.Leu144Ser Single submitter ⚠
p.Leu157Ser Single submitter ⚠
p.Leu542Val Single submitter ⚠
p.Leu608Phe Single submitter ⚠
p.Leu848Val Single submitter ⚠
p.Lys1046Arg Single submitter ⚠
p.Lys1076Arg Single submitter ⚠
p.Lys191Met Single submitter ⚠
p.Lys259Arg Single submitter ⚠
p.Lys38fs Single submitter
p.Met1053Val Single submitter ⚠
p.Met443Arg Single submitter ⚠
p.Met777Thr Single submitter ⚠
p.Met777Val Single submitter ⚠
p.Met997Ile Single submitter ⚠
p.Phe147Leu Single submitter ⚠
p.Phe296Leu Single submitter ⚠
p.Pro1017Ala Single submitter ⚠
p.Pro1017Leu Single submitter ⚠
p.Pro14Thr Single submitter ⚠
p.Pro759Arg Single submitter ⚠
p.Ser153Asn Single submitter ⚠
p.Ser504Asn Single submitter ⚠
p.Ser550Leu Single submitter ⚠
p.Ser558Cys Single submitter ⚠
p.Ser558Thr Single submitter ⚠
p.Ser74Thr Single submitter ⚠
p.Ser832Cys Single submitter ⚠
p.Ser984Gly Single submitter ⚠
p.Thr386Ile Single submitter ⚠
p.Thr440Ile Single submitter ⚠
p.Thr496Pro Single submitter ⚠
p.Thr573Ile Single submitter ⚠
p.Thr691Ala Single submitter ⚠
p.Thr973Met Single submitter
p.Tyr1051His Single submitter
p.Tyr567Cys Single submitter ⚠
p.Val104Ile Single submitter ⚠
p.Val1081Phe Single submitter ⚠
p.Val163Leu Single submitter
p.Val505Met Single submitter ⚠
p.Val95Phe Single submitter ⚠
p.Val976Met Single submitter ⚠