CTIF — 101 ClinVar variants

All ClinVar germline CTIF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →

3 Benign · 3 Likely benign · 95 Uncertain significance

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

⚑ Evidence disagreements 94

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.

Predictors split 33

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

All CTIF variants

Benign 3

c.326+4A>G Multiple submitters
p.Ala63= Multiple submitters
p.Ile277= Multiple submitters

Likely benign 3

p.Ala267Thr Single submitter
p.Ser316Pro Single submitter
p.Ser51= Single submitter

Uncertain significance 95

c.1071+5C>T Single submitter
p.Ala181Thr Single submitter ⚠
p.Ala271Val Single submitter ⚠
p.Ala304Thr Single submitter ⚠
p.Ala428Thr Single submitter ⚠
p.Ala9Pro Single submitter ⚠
p.Arg127Cys Single submitter ⚠
p.Arg127Ser Single submitter ⚠
p.Arg142His Single submitter ⚠
p.Arg17His Single submitter ⚠
p.Arg188Cys Single submitter ⚠
p.Arg188His Single submitter ⚠
p.Arg196Trp Single submitter ⚠
p.Arg221Lys Single submitter ⚠
p.Arg248Gln Single submitter ⚠
p.Arg248Trp Single submitter ⚠
p.Arg249Cys Single submitter ⚠
p.Arg249His Single submitter ⚠
p.Arg269Cys Single submitter ⚠
p.Arg269His Single submitter ⚠
p.Arg26Cys Single submitter ⚠
p.Arg26His Single submitter ⚠
p.Arg298Cys Single submitter ⚠
p.Arg298His Single submitter ⚠
p.Arg298Ser Single submitter ⚠
p.Arg310Gln Single submitter ⚠
p.Arg310Trp Single submitter ⚠
p.Arg333His Single submitter ⚠
p.Arg337Trp Single submitter ⚠
p.Arg351Gln Single submitter ⚠
p.Arg383Trp Single submitter ⚠
p.Arg415Cys Single submitter ⚠
p.Arg415His Single submitter ⚠
p.Arg497His Single submitter ⚠
p.Arg533Gln Single submitter ⚠
p.Arg77Gln Single submitter ⚠
p.Asn254Thr Single submitter ⚠
p.Asp106Asn Single submitter ⚠
p.Asp121Val Single submitter ⚠
p.Asp29Asn Single submitter ⚠
p.Asp388Asn Single submitter ⚠
p.Asp436Asn Single submitter ⚠
p.Cys65Phe Single submitter ⚠
p.Cys73Tyr Single submitter ⚠
p.Gln124His Single submitter ⚠
p.Gln228His Single submitter ⚠
p.Gln36His Single submitter ⚠
p.Gln419Arg Single submitter ⚠
p.Gln419Leu Single submitter ⚠
p.Gln469Arg Single submitter ⚠
p.Gln514Arg Single submitter ⚠
p.Glu162Lys Single submitter ⚠
p.Glu377Lys Single submitter ⚠
p.Glu464Lys Single submitter ⚠
p.Glu52Lys Single submitter ⚠
p.Gly146Arg Single submitter ⚠
p.Gly290Arg Single submitter ⚠
p.Gly317Ala Single submitter ⚠
p.Gly318Glu Single submitter ⚠
p.Gly335Arg Single submitter ⚠
p.Gly39Arg Single submitter ⚠
p.His139Arg Single submitter ⚠
p.His139Gln Single submitter ⚠
p.His219Asn Single submitter ⚠
p.His252Gln Single submitter ⚠
p.His57Tyr Single submitter ⚠
p.Ile21Leu Single submitter ⚠
p.Ile334Phe Single submitter ⚠
p.Ile334Val Single submitter ⚠
p.Ile417Val Single submitter ⚠
p.Leu294Phe Single submitter ⚠
p.Leu303Met Single submitter ⚠
p.Leu452Phe Single submitter ⚠
p.Leu507Phe Single submitter ⚠
p.Lys119Asn Single submitter ⚠
p.Lys272Glu Single submitter ⚠
p.Lys281Glu Single submitter ⚠
p.Met275Arg Single submitter ⚠
p.Pro173Gln Single submitter ⚠
p.Pro173Leu Single submitter ⚠
p.Pro201Leu Single submitter ⚠
p.Pro280Leu Single submitter ⚠
p.Pro280Ser Single submitter ⚠
p.Pro312Leu Single submitter ⚠
p.Pro319Ala Single submitter ⚠
p.Pro367Ser Single submitter ⚠
p.Pro68Leu Single submitter ⚠
p.Ser15Asn Single submitter ⚠
p.Ser299Ile Single submitter ⚠
p.Ser386Asn Single submitter ⚠
p.Thr132Met Single submitter ⚠
p.Thr289Ile Single submitter ⚠
p.Thr586Met Single submitter ⚠
p.Val362Met Single submitter ⚠
p.Val462Leu Single submitter ⚠