ELMOD3 — 212 ClinVar variants
All ClinVar germline ELMOD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →
1 Pathogenic · 4 Conflicting · 32 Benign · 3 Benign/Likely benign · 70 Likely benign · 102 Uncertain significance
Full ELMOD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 80
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELMOD3 p.Ala38Thr Uncertain significance Multiple submitters
- ELMOD3 p.His294Tyr Uncertain significance Multiple submitters
- ELMOD3 p.His297Tyr Uncertain significance Multiple submitters
- ELMOD3 p.Ala204Val Uncertain significance Single submitter
- ELMOD3 p.Ala213Thr Uncertain significance Single submitter
- ELMOD3 p.Ala60Ser Uncertain significance Single submitter
- ELMOD3 p.Ala93Thr Uncertain significance Single submitter
- ELMOD3 p.Arg148Cys Uncertain significance Single submitter
- ELMOD3 p.Arg148His Uncertain significance Single submitter
- ELMOD3 p.Arg148Ser Uncertain significance Single submitter
- ELMOD3 p.Arg150Gln Uncertain significance Single submitter
- ELMOD3 p.Arg173Gln Uncertain significance Single submitter
- ELMOD3 p.Arg325Gln Uncertain significance Single submitter
- ELMOD3 p.Asp16Asn Uncertain significance Single submitter
- ELMOD3 p.Asp31Glu Uncertain significance Single submitter
- ELMOD3 p.Asp33Asn Uncertain significance Single submitter
- ELMOD3 p.Asp33Gly Uncertain significance Single submitter
- ELMOD3 p.Cys189Arg Uncertain significance Single submitter
- ELMOD3 p.Glu20Lys Uncertain significance Single submitter
-
ELMOD3 p.Gly141Arg
Uncertain significance
Single submitter
hearing loss, autosomal dominant 81
- ELMOD3 p.Gly19Asp Uncertain significance Single submitter
-
ELMOD3 p.His171Arg
Uncertain significance
Single submitter
hearing loss, autosomal dominant 81
- ELMOD3 p.His294Arg Uncertain significance Single submitter
- ELMOD3 p.His297Arg Uncertain significance Single submitter
- ELMOD3 p.His297Leu Uncertain significance Single submitter
- ELMOD3 p.His50Arg Uncertain significance Single submitter
- ELMOD3 p.His50Tyr Uncertain significance Single submitter
- ELMOD3 p.His9Arg Uncertain significance Single submitter
- ELMOD3 p.Ile102Asn Uncertain significance Single submitter
- ELMOD3 p.Ile260Asn Uncertain significance Single submitter
- ELMOD3 p.Ile44Val Uncertain significance Single submitter
- ELMOD3 p.Lys279Arg Uncertain significance Single submitter
- ELMOD3 p.Lys360Asn Uncertain significance Single submitter
- ELMOD3 p.Pro169Ala Uncertain significance Single submitter
- ELMOD3 p.Pro354Leu Uncertain significance Single submitter
- ELMOD3 p.Ser166Asn Uncertain significance Single submitter
- ELMOD3 p.Ser23Thr Uncertain significance Single submitter
- ELMOD3 p.Ser241Phe Uncertain significance Single submitter
- ELMOD3 p.Ser254Phe Uncertain significance Single submitter
- ELMOD3 p.Ser368Asn Uncertain significance Single submitter
- ELMOD3 p.Thr126Ala Uncertain significance Single submitter
- ELMOD3 p.Thr258Ala Uncertain significance Single submitter
- ELMOD3 p.Thr89Ile Uncertain significance Single submitter
- ELMOD3 p.Tyr223His Uncertain significance Single submitter
-
ELMOD3 p.Pro354Ser
Uncertain significance
No assertion criteria
ELMOD3-related disorder
Predictors split 31
The independent predictors disagree with each other — read with care.
- ELMOD3 p.Ala133Thr Benign Multiple submitters
-
ELMOD3 p.Ala234Val
Uncertain significance
Multiple submitters
hearing loss, autosomal dominant 81
- ELMOD3 p.Ala289Thr Benign/Likely benign Multiple submitters
- ELMOD3 p.Ala289Val Uncertain significance Multiple submitters
- ELMOD3 p.Arg325Leu Benign Multiple submitters
- ELMOD3 p.Glu236Lys Likely benign Multiple submitters
- ELMOD3 p.Leu164Met Uncertain significance Multiple submitters
-
ELMOD3 p.Phe111Leu
Uncertain significance
Multiple submitters
ELMOD3-related disorder
-
ELMOD3 p.Pro143Ala
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 88
- ELMOD3 p.Ser105Gly Benign Multiple submitters
- ELMOD3 p.Thr183Ile Uncertain significance Multiple submitters
- ELMOD3 p.Val72Met Uncertain significance Multiple submitters
- ELMOD3 p.Ala134Thr Uncertain significance Single submitter
- ELMOD3 p.Ala290Thr Uncertain significance Single submitter
- ELMOD3 p.Arg150Trp Uncertain significance Single submitter
- ELMOD3 p.Arg173Gly Likely benign Single submitter
- ELMOD3 p.Arg239Cys Uncertain significance Single submitter
- ELMOD3 p.Arg239His Likely benign Single submitter
- ELMOD3 p.Arg276Gln Likely benign Single submitter
- ELMOD3 p.Arg276Trp Uncertain significance Single submitter
- ELMOD3 p.Arg303Trp Uncertain significance Single submitter
- ELMOD3 p.Arg325Trp Uncertain significance Single submitter
- ELMOD3 p.Arg337Met Uncertain significance Single submitter
- ELMOD3 p.Arg337Thr Uncertain significance Single submitter
- ELMOD3 p.Asp154Ala Uncertain significance Single submitter
- ELMOD3 p.Ile159Val Uncertain significance Single submitter
- ELMOD3 p.Lys279Asn Uncertain significance Single submitter
- ELMOD3 p.Phe248Leu Uncertain significance Single submitter
- ELMOD3 p.Ser103Phe Uncertain significance Single submitter
- ELMOD3 p.Ser309Leu Uncertain significance Single submitter
-
ELMOD3 p.Ser344Phe
Uncertain significance
Single submitter
hearing loss, autosomal dominant 81
All ELMOD3 variants
Pathogenic 1
- p.Leu265Ser Single submitter autosomal recessive nonsyndromic hearing loss 88
Conflicting classifications of pathogenicity 4
- p.Arg303Gln Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Glu376Lys Single submitter ⚠
- p.Thr113Asn Single submitter ⚠
Benign 32
- c.130-185C>T Multiple submitters
- c.268+44G>C Multiple submitters
- c.268+53C>T Multiple submitters
- c.269-123A>G Multiple submitters
- c.361-153T>C Multiple submitters
- c.607+198G>A Multiple submitters
- c.738+241T>C Multiple submitters
- c.739-116T>C Multiple submitters
- c.815+108C>T Multiple submitters
- c.815+12A>G Multiple submitters
- c.943+152C>G Multiple submitters
- c.943+191C>T Multiple submitters
- c.944-212T>C Multiple submitters
- c.*202G>A Multiple submitters
- c.*59G>T Multiple submitters
- c.*86G>A Multiple submitters
- p.Ala133Thr Multiple submitters ⚠
- p.Ala343= Multiple submitters
- p.Arg325Leu Multiple submitters ⚠
- p.Arg66Cys Multiple submitters
- p.Asp188Asn Multiple submitters
- p.His294= Multiple submitters
- p.Ser105Gly Multiple submitters ⚠
- p.Thr183= Multiple submitters
- p.Thr70Ile Multiple submitters
- c.130-13G>A Single submitter
- c.200-32T>C Single submitter
- c.268+166G>A Single submitter
- c.360+194C>T Single submitter
- c.484+111G>A Single submitter
- c.-232-73_-232-72dup Single submitter
- p.Leu108= Single submitter
Benign/Likely benign 3
- c.269-13C>T Multiple submitters hearing loss, autosomal dominant 81
- c.269-9T>C Multiple submitters
- p.Ala289Thr Multiple submitters ⚠
Likely benign 70
- c.129+129T>C Multiple submitters
- c.816-72G>A Multiple submitters
- c.944-6T>C Multiple submitters
- p.Ala204= Multiple submitters
- p.Ala234= Multiple submitters
- p.Ala356= Multiple submitters
- p.Asp361Val Multiple submitters
- p.Glu236Lys Multiple submitters ⚠
- p.Gly141= Multiple submitters
- p.Gly212= Multiple submitters
- p.Gly41= Multiple submitters
- p.Ile85Ser Multiple submitters
- p.Lys279= Multiple submitters
- c.129+13C>G Single submitter
- c.130-21A>G Single submitter
- c.200-7A>G Single submitter
- c.268+10C>T Single submitter
- c.268+214A>G Single submitter
- c.268+7G>A Single submitter
- c.269-12G>A Single submitter
- c.269-277G>A Single submitter
- c.360+17G>A Single submitter
- c.484+110_484+112del Single submitter
- c.484+110C>T Single submitter
- c.484+14G>A Single submitter
- c.484+57T>C Single submitter
- c.54+14C>T Single submitter
- c.55-15T>C Single submitter
- c.608-12T>C Single submitter
- c.608-15C>T Single submitter
- c.608-19C>T Single submitter
- c.608-37G>A Single submitter
- c.738+10del Single submitter
- c.738+11G>A Single submitter
- c.739-12C>T Single submitter
- c.816-19C>T Single submitter
- c.943+152C>T Single submitter
- c.943+65G>A Single submitter
- c.943+8_943+9del Single submitter
- c.-232-217G>A Single submitter
- c.-232-72del Single submitter
- c.-232-72dup Single submitter
- c.*50G>A Single submitter
- p.Ala133= Single submitter
- p.Arg173Gly Single submitter ⚠
- p.Arg239His Single submitter ⚠
- p.Arg266= Single submitter
- p.Arg276= Single submitter
- p.Arg276Gln Single submitter ⚠
- p.Asn2= Single submitter
- p.Gly131= Single submitter
- p.His243= Single submitter
- p.Ile44= Single submitter
- p.Leu132= Single submitter
- p.Leu191= Single submitter
- p.Leu210= Single submitter
- p.Leu216= Single submitter
- p.Leu333= Single submitter
- p.Leu335= Single submitter
- p.Leu345= Single submitter
- p.Leu346= Single submitter
- p.Leu362= Single submitter
- p.Pro143= Single submitter
- p.Pro232= Single submitter
- p.Pro232Leu Single submitter
- p.Ser309= Single submitter
- p.Ser5= Single submitter
- p.Thr130= Single submitter
- p.Val73= Single submitter
- p.Leu56= No assertion criteria ELMOD3-related disorder
Uncertain significance 102
- c.943+3G>A Multiple submitters
- p.Ala234Val Multiple submitters hearing loss, autosomal dominant 81 ⚠
- p.Ala289Val Multiple submitters ⚠
- p.Ala38Thr Multiple submitters ⚠
- p.Gln100Ter Multiple submitters
- p.His294Tyr Multiple submitters ⚠
- p.His297Tyr Multiple submitters ⚠
- p.Leu164Met Multiple submitters ⚠
- p.Phe111Leu Multiple submitters ELMOD3-related disorder ⚠
- p.Pro143Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 88 ⚠
- p.Thr183Ile Multiple submitters ⚠
- p.Val72Met Multiple submitters ⚠
- c.129+5G>A Single submitter
- c.200-3C>G Single submitter
- c.484+6T>A Single submitter
- c.54+4A>C Single submitter
- c.608-14G>A Single submitter
- c.943+112T>G Single submitter
- c.943+139C>G Single submitter
- c.943+149C>G Single submitter
- c.943+162G>A Single submitter
- c.943+166G>C Single submitter
- c.943+192G>A Single submitter
- c.943+216G>A Single submitter
- c.943+218C>A Single submitter
- c.943+220A>G Single submitter
- c.943+225A>T Single submitter
- c.943+22G>A Single submitter
- c.943+24C>T Single submitter
- c.943+63A>C Single submitter
- c.943+66G>A Single submitter
- c.943+67T>A Single submitter
- c.943+99C>T Single submitter
- c.-372+1G>A Single submitter hearing loss, autosomal dominant 81
- c.*5C>T Single submitter
- p.Ala134Thr Single submitter ⚠
- p.Ala204Val Single submitter ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala290Thr Single submitter ⚠
- p.Ala60Ser Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Arg136Ter Single submitter
- p.Arg148Cys Single submitter ⚠
- p.Arg148His Single submitter ⚠
- p.Arg148Ser Single submitter ⚠
- p.Arg150Gln Single submitter ⚠
- p.Arg150Trp Single submitter ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg239Cys Single submitter ⚠
- p.Arg276Trp Single submitter ⚠
- p.Arg303Trp Single submitter ⚠
- p.Arg325Gln Single submitter ⚠
- p.Arg325Trp Single submitter ⚠
- p.Arg337Met Single submitter ⚠
- p.Arg337Thr Single submitter ⚠
- p.Asp154Ala Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Asp31Glu Single submitter ⚠
- p.Asp33Asn Single submitter ⚠
- p.Asp33Gly Single submitter ⚠
- p.Cys189Arg Single submitter ⚠
- p.Gln147Ter Single submitter
- p.Gln263Ter Single submitter
- p.Gln371Ter Single submitter
- p.Glu20Lys Single submitter ⚠
- p.Gly141Arg Single submitter hearing loss, autosomal dominant 81 ⚠
- p.Gly19Asp Single submitter ⚠
- p.Gly90fs Single submitter
- p.His171Arg Single submitter hearing loss, autosomal dominant 81 ⚠
- p.His294Arg Single submitter ⚠
- p.His297Arg Single submitter ⚠
- p.His297fs Single submitter
- p.His297Leu Single submitter ⚠
- p.His50Arg Single submitter ⚠
- p.His50Tyr Single submitter ⚠
- p.His9Arg Single submitter ⚠
- p.Ile102Asn Single submitter ⚠
- p.Ile159Val Single submitter ⚠
- p.Ile260Asn Single submitter ⚠
- p.Ile44Val Single submitter ⚠
- p.Leu116fs Single submitter
- p.Lys279Arg Single submitter ⚠
- p.Lys279Asn Single submitter ⚠
- p.Lys360Asn Single submitter ⚠
- p.Phe248Leu Single submitter ⚠
- p.Pro169Ala Single submitter ⚠
- p.Pro354Leu Single submitter ⚠
- p.Ser103Phe Single submitter ⚠
- p.Ser166Asn Single submitter ⚠
- p.Ser23Thr Single submitter ⚠
- p.Ser241Phe Single submitter ⚠
- p.Ser254Phe Single submitter ⚠
- p.Ser309Leu Single submitter ⚠
- p.Ser344Phe Single submitter hearing loss, autosomal dominant 81 ⚠
- p.Ser368Asn Single submitter ⚠
- p.Thr126Ala Single submitter ⚠
- p.Thr258Ala Single submitter ⚠
- p.Thr89Ile Single submitter ⚠
- p.Tyr223His Single submitter ⚠
- p.Tyr26Ter Single submitter
- p.Val73_Arg74delinsTer Single submitter
- p.Pro354Ser No assertion criteria ELMOD3-related disorder ⚠