ESRP2 — 136 ClinVar variants
All ClinVar germline ESRP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
2 Likely pathogenic · 7 Benign · 12 Likely benign · 115 Uncertain significance
Full ESRP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ESRP2 p.Gly463Glu
Uncertain significance
Multiple submitters
ESRP2-related disorder
- ESRP2 p.Ala273Val Uncertain significance Single submitter
- ESRP2 p.Ala322Thr Uncertain significance Single submitter
- ESRP2 p.Ala322Val Uncertain significance Single submitter
- ESRP2 p.Ala331Pro Uncertain significance Single submitter
- ESRP2 p.Ala710Val Uncertain significance Single submitter
- ESRP2 p.Ala80Val Uncertain significance Single submitter
- ESRP2 p.Arg137Gln Uncertain significance Single submitter
- ESRP2 p.Arg250Trp Uncertain significance Single submitter
- ESRP2 p.Arg252His Uncertain significance Single submitter
- ESRP2 p.Arg301Gln Uncertain significance Single submitter
- ESRP2 p.Arg351Gln Uncertain significance Single submitter
- ESRP2 p.Arg351Trp Uncertain significance Single submitter
- ESRP2 p.Arg411Lys Uncertain significance Single submitter
- ESRP2 p.Arg425Trp Uncertain significance Single submitter
- ESRP2 p.Arg470Gln Uncertain significance Single submitter
- ESRP2 p.Arg493Gln Uncertain significance Single submitter
- ESRP2 p.Arg506Trp Uncertain significance Single submitter
- ESRP2 p.Arg536His Uncertain significance Single submitter
- ESRP2 p.Arg550Gln Uncertain significance Single submitter
- ESRP2 p.Arg559Cys Uncertain significance Single submitter
- ESRP2 p.Arg705Cys Uncertain significance Single submitter
- ESRP2 p.Arg705Leu Uncertain significance Single submitter
- ESRP2 p.Asp196Gly Uncertain significance Single submitter
- ESRP2 p.Asp22Ala Uncertain significance Single submitter
- ESRP2 p.Glu202Asp Uncertain significance Single submitter
- ESRP2 p.Glu233Gln Uncertain significance Single submitter
- ESRP2 p.Glu487Asp Uncertain significance Single submitter
- ESRP2 p.Glu88Gln Uncertain significance Single submitter
- ESRP2 p.Gly116Arg Uncertain significance Single submitter
- ESRP2 p.Gly123Arg Uncertain significance Single submitter
- ESRP2 p.Gly235Ala Uncertain significance Single submitter
- ESRP2 p.Gly28Arg Uncertain significance Single submitter
- ESRP2 p.Gly441Asp Uncertain significance Single submitter
- ESRP2 p.Gly486Trp Uncertain significance Single submitter
- ESRP2 p.Gly496Ser Uncertain significance Single submitter
- ESRP2 p.Gly676Ser Uncertain significance Single submitter
- ESRP2 p.Gly701Asp Uncertain significance Single submitter
- ESRP2 p.His311Tyr Uncertain significance Single submitter
- ESRP2 p.His498Gln Uncertain significance Single submitter
- ESRP2 p.His529Arg Uncertain significance Single submitter
- ESRP2 p.Ile210Val Uncertain significance Single submitter
- ESRP2 p.Ile421Val Uncertain significance Single submitter
- ESRP2 p.Ile492Val Uncertain significance Single submitter
- ESRP2 p.Leu586Phe Uncertain significance Single submitter
- ESRP2 p.Met312Val Uncertain significance Single submitter
- ESRP2 p.Met553Thr Uncertain significance Single submitter
- ESRP2 p.Pro460Leu Uncertain significance Single submitter
- ESRP2 p.Pro617Ser Uncertain significance Single submitter
- ESRP2 p.Pro711Ser Uncertain significance Single submitter
- ESRP2 p.Ser298Thr Uncertain significance Single submitter
- ESRP2 p.Ser549Thr Uncertain significance Single submitter
- ESRP2 p.Thr172Ile Uncertain significance Single submitter
- ESRP2 p.Thr234Arg Uncertain significance Single submitter
- ESRP2 p.Thr323Ile Uncertain significance Single submitter
- ESRP2 p.Thr362Arg Uncertain significance Single submitter
- ESRP2 p.Val364Met Uncertain significance Single submitter
- ESRP2 p.Val683Ile Uncertain significance Single submitter
-
ESRP2 p.Arg250Gln
Uncertain significance
No assertion criteria
Cleft lip with or without cleft palate
-
ESRP2 p.Gly393Ser
Uncertain significance
No assertion criteria
ESRP2-related disorder
-
ESRP2 p.Ser508Leu
Uncertain significance
No assertion criteria
Cleft lip with or without cleft palate
Predictors split 54
The independent predictors disagree with each other — read with care.
- ESRP2 p.Gly122Arg Uncertain significance Multiple submitters
-
ESRP2 p.Leu681Phe
Uncertain significance
Multiple submitters
ESRP2-related disorder
- ESRP2 p.Ala20Pro Uncertain significance Single submitter
- ESRP2 p.Ala36Val Uncertain significance Single submitter
- ESRP2 p.Ala38Glu Uncertain significance Single submitter
- ESRP2 p.Arg265Cys Uncertain significance Single submitter
- ESRP2 p.Arg265His Uncertain significance Single submitter
- ESRP2 p.Arg385Cys Uncertain significance Single submitter
- ESRP2 p.Arg385His Uncertain significance Single submitter
- ESRP2 p.Arg390Gln Uncertain significance Single submitter
- ESRP2 p.Arg410Cys Uncertain significance Single submitter
- ESRP2 p.Arg410His Uncertain significance Single submitter
- ESRP2 p.Arg425Gln Uncertain significance Single submitter
- ESRP2 p.Arg468His Uncertain significance Single submitter
- ESRP2 p.Arg493Trp Uncertain significance Single submitter
- ESRP2 p.Arg65Cys Uncertain significance Single submitter
- ESRP2 p.Arg667His Uncertain significance Single submitter
- ESRP2 p.Arg87Gly Uncertain significance Single submitter
- ESRP2 p.Arg87His Uncertain significance Single submitter
- ESRP2 p.Asp18Asn Uncertain significance Single submitter
- ESRP2 p.Asp244Tyr Uncertain significance Single submitter
- ESRP2 p.Gln134Glu Uncertain significance Single submitter
- ESRP2 p.Gln261His Uncertain significance Single submitter
- ESRP2 p.Glu299Lys Uncertain significance Single submitter
- ESRP2 p.Glu49Gln Uncertain significance Single submitter
- ESRP2 p.Gly332Glu Uncertain significance Single submitter
- ESRP2 p.Gly486Arg Uncertain significance Single submitter
- ESRP2 p.Leu128Phe Uncertain significance Single submitter
- ESRP2 p.Leu444Phe Uncertain significance Single submitter
- ESRP2 p.Leu586Arg Uncertain significance Single submitter
- ESRP2 p.Leu644Phe Uncertain significance Single submitter
- ESRP2 p.Met415Val Uncertain significance Single submitter
- ESRP2 p.Pro10Ser Uncertain significance Single submitter
- ESRP2 p.Pro152Thr Uncertain significance Single submitter
- ESRP2 p.Pro170Leu Uncertain significance Single submitter
- ESRP2 p.Pro570His Uncertain significance Single submitter
- ESRP2 p.Pro570Leu Uncertain significance Single submitter
- ESRP2 p.Pro8Thr Uncertain significance Single submitter
- ESRP2 p.Pro9Leu Uncertain significance Single submitter
- ESRP2 p.Ser223Leu Uncertain significance Single submitter
- ESRP2 p.Ser358Leu Uncertain significance Single submitter
- ESRP2 p.Ser64Asn Uncertain significance Single submitter
- ESRP2 p.Thr205Ser Uncertain significance Single submitter
- ESRP2 p.Thr591Met Uncertain significance Single submitter
- ESRP2 p.Thr646Ile Uncertain significance Single submitter
- ESRP2 p.Thr674Met Uncertain significance Single submitter
- ESRP2 p.Tyr577Asn Uncertain significance Single submitter
- ESRP2 p.Val114Met Uncertain significance Single submitter
- ESRP2 p.Val209Leu Uncertain significance Single submitter
- ESRP2 p.Val272Met Uncertain significance Single submitter
- ESRP2 p.Val497Leu Uncertain significance Single submitter
- ESRP2 p.Val56Leu Uncertain significance Single submitter
- ESRP2 p.Val707Met Uncertain significance Single submitter
-
ESRP2 p.Ala518Val
Benign
No assertion criteria
ESRP2-related disorder
All ESRP2 variants
Likely pathogenic 2
- p.Arg315His No assertion criteria Cleft lip with or without cleft palate
- p.Arg520Ter No assertion criteria Cleft lip with or without cleft palate
Benign 7
- p.Ala691Thr Multiple submitters
- p.Thr475= Multiple submitters
- c.656-4T>C No assertion criteria ESRP2-related disorder
- p.Ala518Val No assertion criteria ESRP2-related disorder ⚠
- p.Arg43= No assertion criteria ESRP2-related disorder
- p.Thr674= No assertion criteria ESRP2-related disorder
- p.Tyr577= No assertion criteria ESRP2-related disorder
Likely benign 12
- c.1899-4C>T Single submitter
- p.Ala691Pro Single submitter
- c.1299+7G>A No assertion criteria ESRP2-related disorder
- c.711-9C>T No assertion criteria ESRP2-related disorder
- c.955-4A>G No assertion criteria ESRP2-related disorder
- p.Asp692His No assertion criteria ESRP2-related disorder
- p.Gly46= No assertion criteria ESRP2-related disorder
- p.His529= No assertion criteria ESRP2-related disorder
- p.Pro142= No assertion criteria ESRP2-related disorder
- p.Pro596= No assertion criteria ESRP2-related disorder
- p.Tyr694= No assertion criteria ESRP2-related disorder
- p.Val364= No assertion criteria ESRP2-related disorder
Uncertain significance 115
- p.Gly122Arg Multiple submitters ⚠
- p.Gly463Glu Multiple submitters ESRP2-related disorder ⚠
- p.Leu681Phe Multiple submitters ESRP2-related disorder ⚠
- p.Ala20Pro Single submitter ⚠
- p.Ala273Val Single submitter ⚠
- p.Ala322Thr Single submitter ⚠
- p.Ala322Val Single submitter ⚠
- p.Ala331Pro Single submitter ⚠
- p.Ala36Val Single submitter ⚠
- p.Ala38Glu Single submitter ⚠
- p.Ala710Val Single submitter ⚠
- p.Ala80Val Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg250Trp Single submitter ⚠
- p.Arg252His Single submitter ⚠
- p.Arg265Cys Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg301Gln Single submitter ⚠
- p.Arg351Gln Single submitter ⚠
- p.Arg351Trp Single submitter ⚠
- p.Arg385Cys Single submitter ⚠
- p.Arg385His Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg410Cys Single submitter ⚠
- p.Arg410His Single submitter ⚠
- p.Arg411Lys Single submitter ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg425Trp Single submitter ⚠
- p.Arg468His Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg493Gln Single submitter ⚠
- p.Arg493Trp Single submitter ⚠
- p.Arg506Trp Single submitter ⚠
- p.Arg536His Single submitter ⚠
- p.Arg550Gln Single submitter ⚠
- p.Arg559Cys Single submitter ⚠
- p.Arg65Cys Single submitter ⚠
- p.Arg667His Single submitter ⚠
- p.Arg705Cys Single submitter ⚠
- p.Arg705Leu Single submitter ⚠
- p.Arg87Gly Single submitter ⚠
- p.Arg87His Single submitter ⚠
- p.Asp18Asn Single submitter ⚠
- p.Asp196Gly Single submitter ⚠
- p.Asp22Ala Single submitter ⚠
- p.Asp244Tyr Single submitter ⚠
- p.Gln134Glu Single submitter ⚠
- p.Gln261His Single submitter ⚠
- p.Glu202Asp Single submitter ⚠
- p.Glu233Gln Single submitter ⚠
- p.Glu299Lys Single submitter ⚠
- p.Glu487Asp Single submitter ⚠
- p.Glu49Gln Single submitter ⚠
- p.Glu88Gln Single submitter ⚠
- p.Gly116Arg Single submitter ⚠
- p.Gly123Arg Single submitter ⚠
- p.Gly235Ala Single submitter ⚠
- p.Gly28Arg Single submitter ⚠
- p.Gly332Glu Single submitter ⚠
- p.Gly441Asp Single submitter ⚠
- p.Gly486Arg Single submitter ⚠
- p.Gly486Trp Single submitter ⚠
- p.Gly496Ser Single submitter ⚠
- p.Gly676Ser Single submitter ⚠
- p.Gly701Asp Single submitter ⚠
- p.His311Tyr Single submitter ⚠
- p.His498Gln Single submitter ⚠
- p.His529Arg Single submitter ⚠
- p.Ile210Val Single submitter ⚠
- p.Ile421Val Single submitter ⚠
- p.Ile492Val Single submitter ⚠
- p.Leu128Phe Single submitter ⚠
- p.Leu444Phe Single submitter ⚠
- p.Leu586Arg Single submitter ⚠
- p.Leu586Phe Single submitter ⚠
- p.Leu644Phe Single submitter ⚠
- p.Met312Val Single submitter ⚠
- p.Met415Val Single submitter ⚠
- p.Met553Thr Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro152Thr Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro460Leu Single submitter ⚠
- p.Pro570His Single submitter ⚠
- p.Pro570Leu Single submitter ⚠
- p.Pro617Ser Single submitter ⚠
- p.Pro711Ser Single submitter ⚠
- p.Pro8Thr Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser223Leu Single submitter ⚠
- p.Ser298Thr Single submitter ⚠
- p.Ser358Leu Single submitter ⚠
- p.Ser549Thr Single submitter ⚠
- p.Ser64Asn Single submitter ⚠
- p.Thr172Ile Single submitter ⚠
- p.Thr205Ser Single submitter ⚠
- p.Thr234Arg Single submitter ⚠
- p.Thr323Ile Single submitter ⚠
- p.Thr362Arg Single submitter ⚠
- p.Thr591Met Single submitter ⚠
- p.Thr646Ile Single submitter ⚠
- p.Thr674Met Single submitter ⚠
- p.Tyr577Asn Single submitter ⚠
- p.Val114Met Single submitter ⚠
- p.Val209Leu Single submitter ⚠
- p.Val272Met Single submitter ⚠
- p.Val364Met Single submitter ⚠
- p.Val497Leu Single submitter ⚠
- p.Val56Leu Single submitter ⚠
- p.Val683Ile Single submitter ⚠
- p.Val707Met Single submitter ⚠
- p.Arg250Gln No assertion criteria Cleft lip with or without cleft palate ⚠
- p.Glu547del No assertion criteria Cleft lip with or without cleft palate
- p.Gly393Ser No assertion criteria ESRP2-related disorder ⚠
- p.Ser508Leu No assertion criteria Cleft lip with or without cleft palate ⚠