ITM2B — 173 ClinVar variants
All ClinVar germline ITM2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 4 Benign · 52 Likely benign · 109 Uncertain significance
Full ITM2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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.
-
ITM2B p.Arg208His
Conflicting
Single submitter
Inborn genetic diseases
-
ITM2B p.Pro30Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ITM2B p.Ala62Val Uncertain significance Multiple submitters
- ITM2B p.Arg221Gln Uncertain significance Multiple submitters
-
ITM2B p.Arg233Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITM2B p.Asp85Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITM2B p.Glu126Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITM2B p.Glu19Lys Uncertain significance Multiple submitters
-
ITM2B p.Ile240Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITM2B p.Leu81Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITM2B p.Lys77Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITM2B p.Pro31Arg
Uncertain significance
Multiple submitters
ABri amyloidosis
-
ITM2B p.Pro83Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITM2B p.Ala109Ser Uncertain significance Single submitter
-
ITM2B p.Ala110Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Ala15Thr Uncertain significance Single submitter
- ITM2B p.Ala250Ser Uncertain significance Single submitter
- ITM2B p.Ala250Thr Uncertain significance Single submitter
- ITM2B p.Ala52Ser Uncertain significance Single submitter
- ITM2B p.Ala80Thr Uncertain significance Single submitter
- ITM2B p.Arg243Cys Uncertain significance Single submitter
- ITM2B p.Arg243His Uncertain significance Single submitter
- ITM2B p.Asn144Ser Uncertain significance Single submitter
- ITM2B p.Asn247Ser Uncertain significance Single submitter
- ITM2B p.Asn7Ser Uncertain significance Single submitter
- ITM2B p.Asp225Glu Uncertain significance Single submitter
-
ITM2B p.Asp43Asn
Uncertain significance
Single submitter
hereditary ataxia
- ITM2B p.Asp84Val Uncertain significance Single submitter
- ITM2B p.Asp96Asn Uncertain significance Single submitter
- ITM2B p.Asp96Gly Uncertain significance Single submitter
- ITM2B p.Cys248Tyr Uncertain significance Single submitter
- ITM2B p.Cys38Tyr Uncertain significance Single submitter
- ITM2B p.Gln12Arg Uncertain significance Single submitter
- ITM2B p.Gln49His Uncertain significance Single submitter
- ITM2B p.Glu124Gly Uncertain significance Single submitter
-
ITM2B p.Glu126Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Glu227Asp Uncertain significance Single submitter
- ITM2B p.His147Arg Uncertain significance Single submitter
- ITM2B p.His200Gln Uncertain significance Single submitter
- ITM2B p.Ile209Thr Uncertain significance Single submitter
-
ITM2B p.Ile209Val
Uncertain significance
Single submitter
optic atrophy
- ITM2B p.Ile212Val Uncertain significance Single submitter
- ITM2B p.Ile237Thr Uncertain significance Single submitter
- ITM2B p.Ile29Val Uncertain significance Single submitter
-
ITM2B p.Ile94Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Ile99Val Uncertain significance Single submitter
- ITM2B p.Leu193Ser Uncertain significance Single submitter
-
ITM2B p.Leu215Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITM2B p.Leu263Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Lys151Arg Uncertain significance Single submitter
- ITM2B p.Lys16Asn Uncertain significance Single submitter
-
ITM2B p.Lys17Arg
Uncertain significance
Single submitter
ADan amyloidosis
-
ITM2B p.Lys21Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Lys39Arg Uncertain significance Single submitter
- ITM2B p.Phe249Leu Uncertain significance Single submitter
-
ITM2B p.Pro108Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Pro20Leu Uncertain significance Single submitter
- ITM2B p.Pro30Leu Uncertain significance Single submitter
-
ITM2B p.Pro30Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Pro31Leu Uncertain significance Single submitter
-
ITM2B p.Pro31Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Pro31Thr Uncertain significance Single submitter
- ITM2B p.Pro46Ala Uncertain significance Single submitter
-
ITM2B p.Pro83Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Ser104Phe Uncertain significance Single submitter
-
ITM2B p.Ser22Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Ser266Phe Uncertain significance Single submitter
- ITM2B p.Ser8Tyr Uncertain significance Single submitter
- ITM2B p.Tyr112Phe Uncertain significance Single submitter
- ITM2B p.Tyr165Cys Uncertain significance Single submitter
-
ITM2B p.Val146Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Val34Ile Uncertain significance Single submitter
- ITM2B p.Val68Ile Uncertain significance Single submitter
- ITM2B p.Val86Met Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
-
ITM2B p.His200Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ITM2B p.Asp162Val Uncertain significance Single submitter
- ITM2B p.Asp207His Uncertain significance Single submitter
- ITM2B p.Gln195His Uncertain significance Single submitter
- ITM2B p.His253Arg Uncertain significance Single submitter
- ITM2B p.Leu153Phe Uncertain significance Single submitter
- ITM2B p.Leu184Phe Uncertain significance Single submitter
- ITM2B p.Phe217Leu Uncertain significance Single submitter
- ITM2B p.Pro135Ser Uncertain significance Single submitter
-
ITM2B p.Pro168Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ITM2B p.Pro176Ala Uncertain significance Single submitter
- ITM2B p.Thr171Ala Uncertain significance Single submitter
- ITM2B p.Thr171Ile Uncertain significance Single submitter
- ITM2B p.Thr228Ala Uncertain significance Single submitter
- ITM2B p.Tyr88Cys Uncertain significance Single submitter
- ITM2B p.Val260Ala Uncertain significance Single submitter
- ITM2B p.Val260Met Uncertain significance Single submitter
-
ITM2B p.Glu261Ala
Pathogenic
No assertion criteria
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
-
ITM2B p.Leu65Phe
Uncertain significance
No assertion criteria
vascular dementia
All ITM2B variants
Pathogenic 3
- p.Glu261Ala No assertion criteria retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies ⚠
- p.Ser266fs No assertion criteria ADan amyloidosis
- p.Ter267Arg No assertion criteria ABri amyloidosis
Likely pathogenic 1
- p.Ter267Leu Multiple submitters ABri amyloidosis
Conflicting classifications of pathogenicity 4
- p.Arg178Gly Single submitter Inborn genetic diseases
- p.Arg208His Single submitter Inborn genetic diseases ⚠
- p.Phe258= Single submitter
- p.Pro30Ser Single submitter Inborn genetic diseases ⚠
Benign 4
Likely benign 52
- p.Glu235= Multiple submitters
- p.Ile251Val Multiple submitters
- c.117+13G>A Single submitter
- c.117+16G>T Single submitter
- c.117+19C>G Single submitter
- c.117+20G>T Single submitter
- c.117+7G>T Single submitter
- c.118-5T>G Single submitter
- c.247-10CT[2] Single submitter
- c.247-6C>T Single submitter
- c.453+14C>T Single submitter
- c.454-16A>G Single submitter
- c.454-18_454-17del Single submitter
- c.716-11dup Single submitter
- c.716-15_716-14del Single submitter
- c.716-16T>C Single submitter
- c.716-4A>C Single submitter
- p.Ala110= Single submitter
- p.Ala189= Single submitter
- p.Ala250= Single submitter
- p.Ala26= Single submitter
- p.Ala35= Single submitter
- p.Arg208= Single submitter
- p.Arg252= Single submitter
- p.Asn179= Single submitter
- p.Asp139= Single submitter
- p.Asp42= Single submitter
- p.Asp84= Single submitter
- p.Cys56= Single submitter
- p.Glu14= Single submitter
- p.Gly72= Single submitter
- p.His202= Single submitter
- p.Ile115= Single submitter
- p.Leu111= Single submitter
- p.Leu161= Single submitter
- p.Leu169= Single submitter
- p.Leu183= Single submitter
- p.Leu65= Single submitter
- p.Lys13= Single submitter
- p.Phe249= Single submitter
- p.Pro20= Single submitter
- p.Pro30= Single submitter
- p.Pro31= Single submitter
- p.Ser196= Single submitter
- p.Thr5= Single submitter
- p.Tyr112= Single submitter
- p.Tyr165= Single submitter
- p.Tyr229= Single submitter
- p.Tyr78= Single submitter
- p.Tyr87= Single submitter
- p.Val134= Single submitter
- p.Val45del Single submitter
Uncertain significance 109
- p.Ala62Val Multiple submitters ⚠
- p.Arg221Gln Multiple submitters ⚠
- p.Arg233Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp32fs Multiple submitters
- p.Asp85Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu126del Multiple submitters
- p.Glu126Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu19Lys Multiple submitters ⚠
- p.His200Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile240Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu81Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys77Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro31Arg Multiple submitters ABri amyloidosis ⚠
- p.Pro83Ser Multiple submitters Inborn genetic diseases ⚠
- c.117+1G>A Single submitter
- c.564+4T>C Single submitter
- c.564+6A>G Single submitter
- c.716-3C>T Single submitter
- p.Ala109Ser Single submitter ⚠
- p.Ala110Ser Single submitter Inborn genetic diseases ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala189Val Single submitter
- p.Ala250Ser Single submitter ⚠
- p.Ala250Thr Single submitter ⚠
- p.Ala52Ser Single submitter ⚠
- p.Ala80Thr Single submitter ⚠
- p.Arg221Ter Single submitter
- p.Arg243Cys Single submitter ⚠
- p.Arg243His Single submitter ⚠
- p.Arg252Trp Single submitter
- p.Arg51del Single submitter
- p.Asn144Ser Single submitter ⚠
- p.Asn247Ser Single submitter ⚠
- p.Asn7Ser Single submitter ⚠
- p.Asp162Val Single submitter ⚠
- p.Asp207His Single submitter ⚠
- p.Asp225Glu Single submitter ⚠
- p.Asp43Asn Single submitter hereditary ataxia ⚠
- p.Asp84Val Single submitter ⚠
- p.Asp96Asn Single submitter ⚠
- p.Asp96Gly Single submitter ⚠
- p.Cys248Tyr Single submitter ⚠
- p.Cys38Tyr Single submitter ⚠
- p.Cys58Gly Single submitter Inborn genetic diseases
- p.Gln12Arg Single submitter ⚠
- p.Gln195His Single submitter ⚠
- p.Gln49His Single submitter ⚠
- p.Glu124Gly Single submitter ⚠
- p.Glu125_Glu126del Single submitter
- p.Glu126Asp Single submitter Inborn genetic diseases ⚠
- p.Glu19_Pro20insAlaLysLysAspGlu Single submitter
- p.Glu227Asp Single submitter ⚠
- p.His147Arg Single submitter ⚠
- p.His200Gln Single submitter ⚠
- p.His253Arg Single submitter ⚠
- p.Ile209Thr Single submitter ⚠
- p.Ile209Val Single submitter optic atrophy ⚠
- p.Ile212Val Single submitter ⚠
- p.Ile237Thr Single submitter ⚠
- p.Ile264Val Single submitter
- p.Ile29Val Single submitter ⚠
- p.Ile94Val Single submitter Inborn genetic diseases ⚠
- p.Ile99Val Single submitter ⚠
- p.Leu153Phe Single submitter ⚠
- p.Leu184Phe Single submitter ⚠
- p.Leu193Ser Single submitter ⚠
- p.Leu215Arg Single submitter Inborn genetic diseases ⚠
- p.Leu263Val Single submitter Inborn genetic diseases ⚠
- p.Lys151Arg Single submitter ⚠
- p.Lys163fs Single submitter
- p.Lys16Asn Single submitter ⚠
- p.Lys17Arg Single submitter ADan amyloidosis ⚠
- p.Lys21Glu Single submitter Inborn genetic diseases ⚠
- p.Lys39Arg Single submitter ⚠
- p.Phe129fs Single submitter
- p.Phe217Leu Single submitter ⚠
- p.Phe249Leu Single submitter ⚠
- p.Pro103fs Single submitter
- p.Pro108Ala Single submitter Inborn genetic diseases ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro168Arg Single submitter Inborn genetic diseases ⚠
- p.Pro176Ala Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro30Thr Single submitter Inborn genetic diseases ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro31Ser Single submitter Inborn genetic diseases ⚠
- p.Pro31Thr Single submitter ⚠
- p.Pro46Ala Single submitter ⚠
- p.Pro83Thr Single submitter Inborn genetic diseases ⚠
- p.Ser104Phe Single submitter ⚠
- p.Ser22Asn Single submitter Inborn genetic diseases ⚠
- p.Ser266Phe Single submitter ⚠
- p.Ser8Tyr Single submitter ⚠
- p.Thr154fs Single submitter
- p.Thr171Ala Single submitter ⚠
- p.Thr171Ile Single submitter ⚠
- p.Thr228Ala Single submitter ⚠
- p.Tyr112Phe Single submitter ⚠
- p.Tyr165Cys Single submitter ⚠
- p.Tyr165fs Single submitter
- p.Tyr88Cys Single submitter ⚠
- p.Val146Ala Single submitter Inborn genetic diseases ⚠
- p.Val260Ala Single submitter ⚠
- p.Val260Met Single submitter ⚠
- p.Val34Ile Single submitter ⚠
- p.Val68Ile Single submitter ⚠
- p.Val86Met Single submitter ⚠
- p.Leu65Phe No assertion criteria vascular dementia ⚠