ITPKB — 145 ClinVar variants

All ClinVar germline ITPKB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

3 Conflicting · 8 Benign · 4 Benign/Likely benign · 15 Likely benign · 115 Uncertain significance

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

⚑ Evidence disagreements 117

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 2

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

ITPKB p.Ala322Thr Conflicting Single submitter
myeloproliferative neoplasm, unclassifiable
ITPKB p.Arg173His Conflicting Single submitter
myeloproliferative neoplasm, unclassifiable

Predictors lean, ClinVar uncertain 97

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

Predictors split 18

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

All ITPKB variants

Conflicting classifications of pathogenicity 3

p.91GSS[1] Single submitter myeloproliferative neoplasm, unclassifiable
p.Ala322Thr Single submitter myeloproliferative neoplasm, unclassifiable ⚠
p.Arg173His Single submitter myeloproliferative neoplasm, unclassifiable ⚠

Benign 8

c.-8C>T Multiple submitters
p.Ala632= Multiple submitters
p.Asn592= Multiple submitters
p.Pro552Gln Multiple submitters myeloproliferative neoplasm, unclassifiable
p.Ser408Ala Multiple submitters myeloproliferative neoplasm, unclassifiable
p.Ser588= Multiple submitters
c.2247-19C>T Single submitter
c.2625+39C>T Single submitter

Benign/Likely benign 4

p.Asp320Ala Multiple submitters
p.Gly74Ser Multiple submitters myeloproliferative neoplasm, unclassifiable
p.Ser197Arg Multiple submitters
p.Ser880= Multiple submitters

Likely benign 15

p.Arg189Gly Single submitter
p.Arg266Cys Single submitter
p.Arg39Lys Single submitter
p.Arg522Cys Single submitter
p.Arg709Lys Single submitter
p.Asn592Ser Single submitter
p.Gly294Trp Single submitter ⚠
p.His874= Single submitter
p.Ile896= Single submitter
p.Lys391Glu Single submitter
p.Pro461Ser Single submitter
p.Ser299Asn Single submitter
p.Thr863Ala Single submitter
p.Leu945Val No assertion criteria ITPKB-related disorder
p.Ser176Pro No assertion criteria ITPKB-related disorder

Uncertain significance 115

p.Glu906Gln Multiple submitters ⚠
p.Pro358Ser Multiple submitters ⚠
p.Pro415His Multiple submitters ITPKB-related disorder ⚠
p.Thr757Ala Multiple submitters ⚠
p.Ala103Gly Single submitter ⚠
p.Ala115Val Single submitter ⚠
p.Ala152Gly Single submitter ⚠
p.Ala241Ser Single submitter ⚠
p.Ala253Val Single submitter ⚠
p.Ala357Val Single submitter ⚠
p.Ala485Ser Single submitter ⚠
p.Ala485Thr Single submitter ⚠
p.Ala485Val Single submitter ⚠
p.Ala516Pro Single submitter ⚠
p.Ala516Ser Single submitter ⚠
p.Ala519Gly Single submitter ⚠
p.Ala560Thr Single submitter ⚠
p.Ala560Val Single submitter ⚠
p.Ala568Val Single submitter ⚠
p.Ala677Thr Single submitter ⚠
p.Ala853Thr Single submitter ⚠
p.Ala946Thr Single submitter ⚠
p.Arg110Trp Single submitter ⚠
p.Arg129Gly Single submitter ⚠
p.Arg189Lys Single submitter ⚠
p.Arg331Leu Single submitter ⚠
p.Arg360Ser Single submitter ⚠
p.Arg427Pro Single submitter ⚠
p.Arg590Trp Single submitter ⚠
p.Arg596Gly Single submitter ⚠
p.Arg625Cys Single submitter ⚠
p.Arg698Cys Single submitter
p.Arg760Trp Single submitter ⚠
p.Arg76Leu Single submitter ⚠
p.Arg80Cys Single submitter ⚠
p.Arg825Gln Single submitter ⚠
p.Asp497Gly Single submitter ⚠
p.Asp731Asn Single submitter ⚠
p.Asp735Asn Single submitter ⚠
p.Asp737Asn Single submitter ⚠
p.Asp913Asn Single submitter ⚠
p.Cys226Arg Single submitter ⚠
p.Gln112His Single submitter ⚠
p.Gln535Arg Single submitter ⚠
p.Glu151Gly Single submitter ⚠
p.Glu211Asp Single submitter ⚠
p.Glu305Gly Single submitter ⚠
p.Glu305Lys Single submitter ⚠
p.Glu424Gly Single submitter ⚠
p.Glu424Lys Single submitter ⚠
p.Glu425Lys Single submitter ⚠
p.Glu775Lys Single submitter ⚠
p.Glu779Lys Single submitter ⚠
p.Gly104Ser Single submitter ⚠
p.Gly250Asp Single submitter ⚠
p.Gly30Val Single submitter ⚠
p.Gly362Glu Single submitter ⚠
p.Gly504Arg Single submitter ⚠
p.Gly51Arg Single submitter ⚠
p.Leu237Phe Single submitter ⚠
p.Leu582Ser Single submitter ⚠
p.Leu637Val Single submitter ⚠
p.Met257Ile Single submitter ⚠
p.Phe48Leu Single submitter ⚠
p.Pro122Leu Single submitter ⚠
p.Pro124Ser Single submitter ⚠
p.Pro177Leu Single submitter ⚠
p.Pro186Ala Single submitter ⚠
p.Pro223Thr Single submitter ⚠
p.Pro281Leu Single submitter ⚠
p.Pro34Ala Single submitter ⚠
p.Pro378Leu Single submitter ⚠
p.Pro37Ala Single submitter ⚠
p.Pro448Ser Single submitter ⚠
p.Pro44Ser Single submitter ⚠
p.Pro480Leu Single submitter ⚠
p.Pro50His Single submitter ⚠
p.Pro545Leu Single submitter ⚠
p.Pro549Arg Single submitter ⚠
p.Pro563Ser Single submitter ⚠
p.Pro60Gln Single submitter ⚠
p.Pro69Ala Single submitter ⚠
p.Pro72Ala Single submitter ⚠
p.Ser10Ile Single submitter ⚠
p.Ser182Asn Single submitter ⚠
p.Ser287Cys Single submitter ⚠
p.Ser29Arg Single submitter ⚠
p.Ser312Cys Single submitter ⚠
p.Ser327Pro Single submitter ⚠
p.Ser384Cys Single submitter ⚠
p.Ser406Phe Single submitter ⚠
p.Ser458Leu Single submitter ⚠
p.Ser472Ala Single submitter ⚠
p.Ser539Cys Single submitter ⚠
p.Ser600Phe Single submitter ⚠
p.Ser611Phe Single submitter ⚠
p.Ser805Thr Single submitter ⚠
p.Thr212Ser Single submitter ⚠
p.Thr449Met Single submitter ⚠
p.Thr606Met Single submitter ⚠
p.Thr636Ala Single submitter ⚠
p.Thr636Ile Single submitter ⚠
p.Thr757Met Single submitter ⚠
p.Trp205Cys Single submitter ⚠
p.Trp205Ser Single submitter ⚠
p.Trp509Cys Single submitter ⚠
p.Trp670Arg Single submitter ⚠
p.Val143Gly Single submitter ⚠
p.Val343Met Single submitter ⚠
p.Val421Ile Single submitter ⚠
p.Val466Ala Single submitter ⚠
p.Val526Met Single submitter ⚠
p.Val661Ile Single submitter ⚠
p.Val712Ile Single submitter ⚠
p.Val914Ile Single submitter ⚠