IER3IP1 — 114 ClinVar variants
All ClinVar germline IER3IP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Pathogenic/Likely pathogenic · 2 Conflicting · 8 Benign · 2 Benign/Likely benign · 53 Likely benign · 48 Uncertain significance
Full IER3IP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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.
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IER3IP1 p.Arg57Gln
Conflicting
Single submitter
microcephaly, epilepsy, and diabetes syndrome
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
IER3IP1 p.Ala74Gly
Uncertain significance
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Gly40Cys
Uncertain significance
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Ile73Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IER3IP1 p.Ile75Val
Uncertain significance
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Leu9Pro
Uncertain significance
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Ser72Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IER3IP1 p.Val21Gly
Uncertain significance
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Ala12Pro
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Ala2Ser
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Gln37Leu
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Gly40Ser
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Ile39Thr
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Ile73Val
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Leu5Val
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Leu77Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IER3IP1 p.Pro46Ser
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Ser50Leu
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Thr4Ser
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Val59Ile
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Val76Leu
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
Predictors split 15
The independent predictors disagree with each other — read with care.
-
IER3IP1 p.Arg57Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IER3IP1 p.Asn17Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IER3IP1 p.Asn54Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IER3IP1 p.Gln10His
Uncertain significance
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome 1
-
IER3IP1 p.Leu78Pro
Pathogenic/Likely pathogenic
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome 1
-
IER3IP1 p.Pro46Leu
Uncertain significance
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome 1
-
IER3IP1 p.Val59Leu
Uncertain significance
Multiple submitters
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Arg26Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
IER3IP1 p.Arg64Thr
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Glu24Ala
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.His23Gln
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Leu55Phe
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Leu67Ser
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Met63Thr
Uncertain significance
Single submitter
microcephaly, epilepsy, and diabetes syndrome
-
IER3IP1 p.Val65Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All IER3IP1 variants
Pathogenic/Likely pathogenic 1
- p.Leu78Pro Multiple submitters microcephaly, epilepsy, and diabetes syndrome 1 ⚠
Conflicting classifications of pathogenicity 2
- c.92-10C>T Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Arg57Gln Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
Benign 8
- c.91+56T>G Multiple submitters
- c.-70G>T Multiple submitters
- c.193+147dup Single submitter
- c.193+162del Single submitter
- c.193+213T>G Single submitter
- c.194-11del Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.194-288G>A Single submitter
- c.194-290C>A Single submitter
Benign/Likely benign 2
- c.194-11dup Multiple submitters microcephaly, epilepsy, and diabetes syndrome
- p.Lys49= Multiple submitters microcephaly, epilepsy, and diabetes syndrome
Likely benign 53
- p.Leu67= Multiple submitters microcephaly, epilepsy, and diabetes syndrome
- p.Pro46= Multiple submitters Inborn genetic diseases
- c.193+17A>G Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.193+18T>C Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.194-10C>T Single submitter
- c.194-11T>C Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.194-12T>C Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.194-14_194-11del Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.194-257C>G Single submitter
- c.91+10A>C Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.91+10A>T Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.91+13_91+18del Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.91+15G>T Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.91+7G>A Single submitter
- c.91+8G>C Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.91+9G>C Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.92-10_92-6del Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.92-17A>C Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.92-17A>G Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.92-282C>T Single submitter
- c.92-5T>C Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.-19G>C Single submitter
- c.*58T>C Single submitter epilepsy
- p.Ala11= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Ala12= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Ala18= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Arg26= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Asn30= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Asn54= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Asp36= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Gln37= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Gly32= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Gly47= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Ile19= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu14= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu22= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu28= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu5= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu52= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu55= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu77= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu78= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu80= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu9= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Lys29= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Phe81= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Ser50= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Ter83= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Thr4= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Thr61= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Tyr6= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Val21= Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Val62= Single submitter microcephaly, epilepsy, and diabetes syndrome
Uncertain significance 48
- p.Ala74Gly Multiple submitters microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Arg57Leu Multiple submitters Inborn genetic diseases ⚠
- p.Asn17Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn54Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln10His Multiple submitters microcephaly, epilepsy, and diabetes syndrome 1 ⚠
- p.Gly40Cys Multiple submitters microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Ile73Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile75Val Multiple submitters microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Leu9Pro Multiple submitters microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Pro46Leu Multiple submitters microcephaly, epilepsy, and diabetes syndrome 1 ⚠
- p.Ser72Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val21Gly Multiple submitters microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Val59Leu Multiple submitters microcephaly, epilepsy, and diabetes syndrome ⚠
- c.194-3C>T Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.92-20C>G Single submitter microcephaly, epilepsy, and diabetes syndrome
- c.-6A>G Single submitter
- p.Ala11Val Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Ala12Pro Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Ala2Ser Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Arg26Pro Single submitter Inborn genetic diseases ⚠
- p.Arg64Thr Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Asp36His Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Gln37Leu Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Glu24Ala Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Gly38fs Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Gly40Ser Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.His23fs Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.His23Gln Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Ile39Thr Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Ile73Val Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Leu55Phe Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Leu5Val Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Leu67Ser Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Leu77Ter Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Leu77Val Single submitter Inborn genetic diseases ⚠
- p.Leu80Ter Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Met1Lys Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Met63Thr Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Phe27fs Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Pro46Ser Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Ser50Leu Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Thr4Ala Single submitter microcephaly, epilepsy, and diabetes syndrome
- p.Thr4Ser Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Val16Ala Single submitter Inborn genetic diseases
- p.Val59Ile Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠
- p.Val65Ala Single submitter Inborn genetic diseases ⚠
- p.Val65Met Single submitter
- p.Val76Leu Single submitter microcephaly, epilepsy, and diabetes syndrome ⚠