EIPR1 — 57 ClinVar variants
All ClinVar germline EIPR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
4 Pathogenic · 2 Likely benign · 51 Uncertain significance
Full EIPR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIPR1 p.Ala138Thr Uncertain significance Single submitter
- EIPR1 p.Ala177Val Uncertain significance Single submitter
- EIPR1 p.Ala204Val Uncertain significance Single submitter
- EIPR1 p.Ala23Ser Uncertain significance Single submitter
- EIPR1 p.Ala341Thr Uncertain significance Single submitter
- EIPR1 p.Ala5Thr Uncertain significance Single submitter
- EIPR1 p.Ala72Pro Uncertain significance Single submitter
- EIPR1 p.Ala75Gly Uncertain significance Single submitter
- EIPR1 p.Arg215Gln Uncertain significance Single submitter
- EIPR1 p.Arg215Trp Uncertain significance Single submitter
- EIPR1 p.Arg232Gln Uncertain significance Single submitter
- EIPR1 p.Arg29Trp Uncertain significance Single submitter
- EIPR1 p.Arg326Leu Uncertain significance Single submitter
- EIPR1 p.Arg77Gly Uncertain significance Single submitter
- EIPR1 p.Asn131Asp Uncertain significance Single submitter
- EIPR1 p.Gln63Arg Uncertain significance Single submitter
- EIPR1 p.Glu344Lys Uncertain significance Single submitter
- EIPR1 p.Gly78Ser Uncertain significance Single submitter
- EIPR1 p.His110Gln Uncertain significance Single submitter
- EIPR1 p.His227Gln Uncertain significance Single submitter
-
EIPR1 p.His271Gln
Uncertain significance
Single submitter
Neurodevelopmental delay with neutropenia
- EIPR1 p.Ile319Thr Uncertain significance Single submitter
- EIPR1 p.Ile340Met Uncertain significance Single submitter
- EIPR1 p.Ile45Val Uncertain significance Single submitter
- EIPR1 p.Leu244Val Uncertain significance Single submitter
- EIPR1 p.Lys103Arg Uncertain significance Single submitter
- EIPR1 p.Pro144Thr Uncertain significance Single submitter
- EIPR1 p.Ser112Pro Uncertain significance Single submitter
- EIPR1 p.Ser168Leu Uncertain significance Single submitter
- EIPR1 p.Ser189Leu Uncertain significance Single submitter
- EIPR1 p.Ser331Gly Uncertain significance Single submitter
- EIPR1 p.Thr22Ala Uncertain significance Single submitter
- EIPR1 p.Thr258Ile Uncertain significance Single submitter
- EIPR1 p.Thr25Ile Uncertain significance Single submitter
- EIPR1 p.Val201Met Uncertain significance Single submitter
- EIPR1 p.Val98Leu Uncertain significance Single submitter
- EIPR1 p.Val98Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- EIPR1 p.Arg191Gln Uncertain significance Single submitter
- EIPR1 p.Arg279Cys Uncertain significance Single submitter
- EIPR1 p.Asn85Ser Uncertain significance Single submitter
- EIPR1 p.Asp316Asn Uncertain significance Single submitter
- EIPR1 p.Cys95Tyr Uncertain significance Single submitter
- EIPR1 p.Gly228Arg Uncertain significance Single submitter
- EIPR1 p.Ile305Phe Uncertain significance Single submitter
- EIPR1 p.Phe48Leu Uncertain significance Single submitter
- EIPR1 p.Val339Leu Uncertain significance Single submitter
- EIPR1 p.Val339Met Uncertain significance Single submitter
- EIPR1 p.Val350Ile Uncertain significance Single submitter
-
EIPR1 p.Val140Asp
Pathogenic
No assertion criteria
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOPLASIA OF THE CORPUS CALLOSUM, AND RECURRENT INFECTIONS
All EIPR1 variants
Pathogenic 4
- p.Arg16His No assertion criteria NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOPLASIA OF THE CORPUS CALLOSUM, AND RECURRENT INFECTIONS
- p.Arg232Trp No assertion criteria NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOPLASIA OF THE CORPUS CALLOSUM, AND RECURRENT INFECTIONS
- p.Arg279Gly No assertion criteria NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOPLASIA OF THE CORPUS CALLOSUM, AND RECURRENT INFECTIONS
- p.Val140Asp No assertion criteria NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOPLASIA OF THE CORPUS CALLOSUM, AND RECURRENT INFECTIONS ⚠
Likely benign 2
- p.Arg326His Single submitter
- p.Cys247= Single submitter
Uncertain significance 51
- p.Ala138Thr Single submitter ⚠
- p.Ala177Val Single submitter ⚠
- p.Ala204Val Single submitter ⚠
- p.Ala23Ser Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala72Pro Single submitter ⚠
- p.Ala75Gly Single submitter ⚠
- p.Arg191Gln Single submitter ⚠
- p.Arg215Gln Single submitter ⚠
- p.Arg215Trp Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg29Trp Single submitter ⚠
- p.Arg326Leu Single submitter ⚠
- p.Arg77Gly Single submitter ⚠
- p.Asn131Asp Single submitter ⚠
- p.Asn85Ser Single submitter ⚠
- p.Asp316Asn Single submitter ⚠
- p.Asp3Asn Single submitter
- p.Cys95Tyr Single submitter ⚠
- p.Gln63Arg Single submitter ⚠
- p.Glu344Lys Single submitter ⚠
- p.Gly228Arg Single submitter ⚠
- p.Gly311Ser Single submitter
- p.Gly78Ser Single submitter ⚠
- p.His110Gln Single submitter ⚠
- p.His227Gln Single submitter ⚠
- p.His271Gln Single submitter Neurodevelopmental delay with neutropenia ⚠
- p.Ile305Phe Single submitter ⚠
- p.Ile319Thr Single submitter ⚠
- p.Ile340Met Single submitter ⚠
- p.Ile45Val Single submitter ⚠
- p.Leu244Val Single submitter ⚠
- p.Lys103Arg Single submitter ⚠
- p.Phe48Leu Single submitter ⚠
- p.Pro144Thr Single submitter ⚠
- p.Pro264Thr Single submitter
- p.Ser112Pro Single submitter ⚠
- p.Ser168Leu Single submitter ⚠
- p.Ser189Leu Single submitter ⚠
- p.Ser331Gly Single submitter ⚠
- p.Thr22Ala Single submitter ⚠
- p.Thr258Ile Single submitter ⚠
- p.Thr25Ile Single submitter ⚠
- p.Val201Met Single submitter ⚠
- p.Val339Leu Single submitter ⚠
- p.Val339Met Single submitter ⚠
- p.Val350Ile Single submitter ⚠
- p.Val98Leu Single submitter ⚠
- p.Val98Met Single submitter ⚠