CBLIF — 172 ClinVar variants
All ClinVar germline CBLIF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
9 Pathogenic · 6 Likely pathogenic · 10 Conflicting · 15 Benign · 3 Benign/Likely benign · 52 Likely benign · 77 Uncertain significance
Full CBLIF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 77
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CBLIF p.Ser46Leu
Likely pathogenic
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Ile220Thr
Pathogenic
Single submitter
hereditary intrinsic factor deficiency
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CBLIF p.Ala127Thr
Conflicting
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Phe388Ser
Conflicting
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Pro304Ser
Conflicting
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Thr250Met
Conflicting
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Tyr52Asn
Conflicting
Single submitter
hereditary intrinsic factor deficiency
Predictors lean, ClinVar uncertain 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CBLIF p.Ala377Thr
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Ala377Val
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Arg104Gln
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.His407Gln
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Ile333Val
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Met363Val
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Pro125Ser
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Ser111Thr
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Tyr7Phe
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Val28Ile
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
- CBLIF p.Ala127Val Uncertain significance Single submitter
-
CBLIF p.Ala149Glu
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Ala16Val
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Asn245Lys Uncertain significance Single submitter
- CBLIF p.Asn301Lys Uncertain significance Single submitter
- CBLIF p.Asp205Glu Uncertain significance Single submitter
-
CBLIF p.Gln21Arg
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Gln285Arg
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Gln91Lys
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Glu192Lys
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Glu397Val
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Gly190Ser Uncertain significance Single submitter
- CBLIF p.Gly194Ser Uncertain significance Single submitter
-
CBLIF p.Ile112Leu
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Ile89Thr Uncertain significance Single submitter
-
CBLIF p.Lys278Asn
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Lys353Arg Uncertain significance Single submitter
-
CBLIF p.Lys73Arg
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Met252Leu
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Met356Thr
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Met80Thr
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Pro125Arg Uncertain significance Single submitter
-
CBLIF p.Pro404Arg
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Ser211Asn Uncertain significance Single submitter
- CBLIF p.Thr287Ala Uncertain significance Single submitter
- CBLIF p.Val202Leu Uncertain significance Single submitter
- CBLIF p.Val294Leu Uncertain significance Single submitter
- CBLIF p.Val345Ile Uncertain significance Single submitter
-
CBLIF p.Val36Ile
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
Predictors split 31
The independent predictors disagree with each other — read with care.
-
CBLIF p.Arg352Cys
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Arg352His
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Gln351Glu
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Ile318Thr
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Leu9Pro
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Met175Thr
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
-
CBLIF p.Pro394Ser
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
- CBLIF p.Ser166Phe Uncertain significance Multiple submitters
-
CBLIF p.Val370Ile
Uncertain significance
Multiple submitters
hereditary intrinsic factor deficiency
- CBLIF p.Ala229Ser Uncertain significance Single submitter
- CBLIF p.Arg156Cys Uncertain significance Single submitter
-
CBLIF p.Asn334Ile
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Gln259His Uncertain significance Single submitter
- CBLIF p.Gly190Arg Uncertain significance Single submitter
-
CBLIF p.Gly260Arg
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Gly260Glu Uncertain significance Single submitter
-
CBLIF p.Gly277Arg
Conflicting
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Gly340Trp Uncertain significance Single submitter
-
CBLIF p.Leu161Arg
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Leu35Ser Uncertain significance Single submitter
- CBLIF p.Leu94Phe Uncertain significance Single submitter
-
CBLIF p.Met43Thr
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Met97Thr
Conflicting
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Pro152Leu
Conflicting
Single submitter
hereditary intrinsic factor deficiency
-
CBLIF p.Pro355Arg
Uncertain significance
Single submitter
hereditary intrinsic factor deficiency
- CBLIF p.Ser10Asn Likely benign Single submitter
- CBLIF p.Ser124Arg Uncertain significance Single submitter
- CBLIF p.Ser234Tyr Uncertain significance Single submitter
- CBLIF p.Thr361Asn Uncertain significance Single submitter
- CBLIF p.Val370Leu Uncertain significance Single submitter
-
CBLIF p.Gly221Arg
Likely pathogenic
No assertion criteria
hereditary intrinsic factor deficiency
All CBLIF variants
Pathogenic 9
- c.79+1G>A Multiple submitters hereditary intrinsic factor deficiency
- p.Met61fs Multiple submitters hereditary intrinsic factor deficiency
- p.Arg104Ter Single submitter hereditary intrinsic factor deficiency
- p.Gln116Ter Single submitter hereditary intrinsic factor deficiency
- p.Ile220Thr Single submitter hereditary intrinsic factor deficiency ⚠
- p.Thr18fs Single submitter hereditary intrinsic factor deficiency
- c.80-1G>A No assertion criteria hereditary intrinsic factor deficiency
- p.Asn54fs No assertion criteria hereditary intrinsic factor deficiency
- p.Thr393fs No assertion criteria hereditary intrinsic factor deficiency
Likely pathogenic 6
- p.Ser46Leu Multiple submitters hereditary intrinsic factor deficiency ⚠
- c.370+1G>C Single submitter hereditary intrinsic factor deficiency
- c.370+83_426del Single submitter hereditary intrinsic factor deficiency
- p.Gln23fs Single submitter hereditary intrinsic factor deficiency
- p.Phe132Ter Single submitter hereditary intrinsic factor deficiency
- p.Gly221Arg No assertion criteria hereditary intrinsic factor deficiency ⚠
Conflicting classifications of pathogenicity 10
- c.1074-3T>C Single submitter hereditary intrinsic factor deficiency
- c.256+10C>T Single submitter hereditary intrinsic factor deficiency
- p.Ala127Thr Single submitter hereditary intrinsic factor deficiency ⚠
- p.Gly277Arg Single submitter hereditary intrinsic factor deficiency ⚠
- p.Met97Thr Single submitter hereditary intrinsic factor deficiency ⚠
- p.Phe388Ser Single submitter hereditary intrinsic factor deficiency ⚠
- p.Pro152Leu Single submitter hereditary intrinsic factor deficiency ⚠
- p.Pro304Ser Single submitter hereditary intrinsic factor deficiency ⚠
- p.Thr250Met Single submitter hereditary intrinsic factor deficiency ⚠
- p.Tyr52Asn Single submitter hereditary intrinsic factor deficiency ⚠
Benign 15
- c.693+236T>C Multiple submitters
- c.79+191T>C Multiple submitters
- c.80-129G>A Multiple submitters
- c.80-33T>C Multiple submitters
- p.Asn255Ser Multiple submitters hereditary intrinsic factor deficiency
- p.Asn330= Multiple submitters hereditary intrinsic factor deficiency
- p.Asp83Asn Multiple submitters hereditary intrinsic factor deficiency
- p.Gln23Arg Multiple submitters hereditary intrinsic factor deficiency
- p.Ser82= Multiple submitters hereditary intrinsic factor deficiency
- c.1192+179TA[11] Single submitter
- c.1192+179TA[9] Single submitter
- c.370+39T>C Single submitter
- c.872-8C>A Single submitter hereditary intrinsic factor deficiency
- p.Thr20Ile Single submitter hereditary intrinsic factor deficiency
- p.Thr250= Single submitter hereditary intrinsic factor deficiency
Benign/Likely benign 3
- c.371-19T>C Multiple submitters hereditary intrinsic factor deficiency
- p.Gly65Arg Multiple submitters hereditary intrinsic factor deficiency
- p.Val380Ile Multiple submitters hereditary intrinsic factor deficiency
Likely benign 52
- p.Gly17= Multiple submitters hereditary intrinsic factor deficiency
- p.Lys145del Multiple submitters hereditary intrinsic factor deficiency
- c.1074-10dup Single submitter hereditary intrinsic factor deficiency
- c.1074-10T>C Single submitter hereditary intrinsic factor deficiency
- c.1192+7G>A Single submitter hereditary intrinsic factor deficiency
- c.256+18C>T Single submitter hereditary intrinsic factor deficiency
- c.256+20C>T Single submitter hereditary intrinsic factor deficiency
- c.257-13C>T Single submitter hereditary intrinsic factor deficiency
- c.370+10G>T Single submitter hereditary intrinsic factor deficiency
- c.370+13T>C Single submitter hereditary intrinsic factor deficiency
- c.370+14G>A Single submitter hereditary intrinsic factor deficiency
- c.370+20G>A Single submitter hereditary intrinsic factor deficiency
- c.512-17C>A Single submitter hereditary intrinsic factor deficiency
- c.693+10T>G Single submitter hereditary intrinsic factor deficiency
- c.693+13T>C Single submitter hereditary intrinsic factor deficiency
- c.693+8C>T Single submitter hereditary intrinsic factor deficiency
- c.693+9G>A Single submitter hereditary intrinsic factor deficiency
- c.694-15T>C Single submitter hereditary intrinsic factor deficiency
- c.79+10_79+12del Single submitter hereditary intrinsic factor deficiency
- c.79+11T>C Single submitter hereditary intrinsic factor deficiency
- c.871+12A>T Single submitter hereditary intrinsic factor deficiency
- c.871+14C>G Single submitter hereditary intrinsic factor deficiency
- p.Ala127= Single submitter hereditary intrinsic factor deficiency
- p.Ala154= Single submitter hereditary intrinsic factor deficiency
- p.Ala179= Single submitter hereditary intrinsic factor deficiency
- p.Ala64= Single submitter hereditary intrinsic factor deficiency
- p.Arg156= Single submitter hereditary intrinsic factor deficiency
- p.Asn146= Single submitter hereditary intrinsic factor deficiency
- p.Asn301= Single submitter hereditary intrinsic factor deficiency
- p.Asn334= Single submitter hereditary intrinsic factor deficiency
- p.Glu331Lys Single submitter
- p.His407= Single submitter hereditary intrinsic factor deficiency
- p.Ile271= Single submitter hereditary intrinsic factor deficiency
- p.Ile410= Single submitter hereditary intrinsic factor deficiency
- p.Ile96= Single submitter hereditary intrinsic factor deficiency
- p.Leu140= Single submitter hereditary intrinsic factor deficiency
- p.Leu322= Single submitter hereditary intrinsic factor deficiency
- p.Leu74Phe Single submitter hereditary intrinsic factor deficiency
- p.Leu9= Single submitter hereditary intrinsic factor deficiency
- p.Leu92= Single submitter hereditary intrinsic factor deficiency
- p.Lys278= Single submitter hereditary intrinsic factor deficiency
- p.Pro152= Single submitter hereditary intrinsic factor deficiency
- p.Ser10Asn Single submitter ⚠
- p.Ser25= Single submitter hereditary intrinsic factor deficiency
- p.Ser365= Single submitter
- p.Ser46= Single submitter hereditary intrinsic factor deficiency
- p.Thr177= Single submitter hereditary intrinsic factor deficiency
- p.Thr181= Single submitter hereditary intrinsic factor deficiency
- p.Thr20= Single submitter hereditary intrinsic factor deficiency
- p.Thr364= Single submitter hereditary intrinsic factor deficiency
- p.Val345= Single submitter hereditary intrinsic factor deficiency
- p.Ser310= No assertion criteria CBLIF-related disorder
Uncertain significance 77
- c.79+3G>A Multiple submitters hereditary intrinsic factor deficiency
- p.Ala377Thr Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Ala377Val Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Arg104Gln Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Arg352Cys Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Arg352His Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Gln351Glu Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.His407Gln Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Ile318Thr Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Ile333Val Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Leu9Pro Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Met175Thr Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Met363Val Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Pro125Ser Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Pro394Ser Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Ser111Thr Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Ser166Phe Multiple submitters ⚠
- p.Tyr7Phe Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Val28Ile Multiple submitters hereditary intrinsic factor deficiency ⚠
- p.Val370Ile Multiple submitters hereditary intrinsic factor deficiency ⚠
- c.1074-14A>G Single submitter hereditary intrinsic factor deficiency
- c.371-15C>T Single submitter hereditary intrinsic factor deficiency
- c.371-4G>A Single submitter hereditary intrinsic factor deficiency
- c.*56T>G Single submitter hereditary intrinsic factor deficiency
- c.*87G>A Single submitter hereditary intrinsic factor deficiency
- p.Ala127Val Single submitter ⚠
- p.Ala149Glu Single submitter hereditary intrinsic factor deficiency ⚠
- p.Ala16Val Single submitter hereditary intrinsic factor deficiency ⚠
- p.Ala229Ser Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Asn245Lys Single submitter ⚠
- p.Asn301Lys Single submitter ⚠
- p.Asn334Ile Single submitter hereditary intrinsic factor deficiency ⚠
- p.Asp205Glu Single submitter ⚠
- p.Cys26= Single submitter hereditary intrinsic factor deficiency
- p.Gln21Arg Single submitter hereditary intrinsic factor deficiency ⚠
- p.Gln259His Single submitter ⚠
- p.Gln285Arg Single submitter hereditary intrinsic factor deficiency ⚠
- p.Gln91Lys Single submitter hereditary intrinsic factor deficiency ⚠
- p.Glu192Lys Single submitter hereditary intrinsic factor deficiency ⚠
- p.Glu397Val Single submitter hereditary intrinsic factor deficiency ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly190Ser Single submitter ⚠
- p.Gly194Ser Single submitter ⚠
- p.Gly260Arg Single submitter hereditary intrinsic factor deficiency ⚠
- p.Gly260Glu Single submitter ⚠
- p.Gly340Trp Single submitter ⚠
- p.Ile112Leu Single submitter hereditary intrinsic factor deficiency ⚠
- p.Ile89Thr Single submitter ⚠
- p.Leu161Arg Single submitter hereditary intrinsic factor deficiency ⚠
- p.Leu35Ser Single submitter ⚠
- p.Leu94Phe Single submitter ⚠
- p.Lys278Asn Single submitter hereditary intrinsic factor deficiency ⚠
- p.Lys353Arg Single submitter ⚠
- p.Lys73Arg Single submitter hereditary intrinsic factor deficiency ⚠
- p.Met252Leu Single submitter hereditary intrinsic factor deficiency ⚠
- p.Met356Thr Single submitter hereditary intrinsic factor deficiency ⚠
- p.Met43Thr Single submitter hereditary intrinsic factor deficiency ⚠
- p.Met80Thr Single submitter hereditary intrinsic factor deficiency ⚠
- p.Pro125Arg Single submitter ⚠
- p.Pro355Arg Single submitter hereditary intrinsic factor deficiency ⚠
- p.Pro394fs Single submitter hereditary intrinsic factor deficiency
- p.Pro404Arg Single submitter hereditary intrinsic factor deficiency ⚠
- p.Ser124Arg Single submitter ⚠
- p.Ser211Asn Single submitter ⚠
- p.Ser234Tyr Single submitter ⚠
- p.Ser390delinsThrGlnProLeuSerThrGlnThrSerTer Single submitter hereditary intrinsic factor deficiency
- p.Thr287Ala Single submitter ⚠
- p.Thr361Asn Single submitter ⚠
- p.Val170= Single submitter hereditary intrinsic factor deficiency
- p.Val202Leu Single submitter ⚠
- p.Val294Leu Single submitter ⚠
- p.Val345Ile Single submitter ⚠
- p.Val346del Single submitter
- p.Val369= Single submitter hereditary intrinsic factor deficiency
- p.Val36Ile Single submitter hereditary intrinsic factor deficiency ⚠
- p.Val370Leu Single submitter ⚠