HOXA13 — 235 ClinVar variants
All ClinVar germline HOXA13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 7 Conflicting · 9 Benign · 5 Benign/Likely benign · 61 Likely benign · 141 Uncertain significance
Full HOXA13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HOXA13 p.Gln295Pro
Conflicting
Single submitter
hand-foot-genital syndrome
-
HOXA13 p.Lys192Arg
Conflicting
Single submitter
Inborn genetic diseases
-
HOXA13 p.Pro59Ala
Conflicting
Single submitter
hand-foot-genital syndrome
Predictors lean, ClinVar uncertain 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HOXA13 p.Ala150Thr
Uncertain significance
Multiple submitters
Guttmacher syndrome
- HOXA13 p.Ala66Ser Uncertain significance Multiple submitters
-
HOXA13 p.Ala92Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Asn189Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Asn283Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Gly177Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Phe221Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Pro144Leu
Uncertain significance
Multiple submitters
Guttmacher syndrome
-
HOXA13 p.Pro59Ser
Uncertain significance
Multiple submitters
Guttmacher syndrome
-
HOXA13 p.Ser176Asn
Uncertain significance
Multiple submitters
hand-foot-genital syndrome
-
HOXA13 p.Ser317Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Val327Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Ala102Pro
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Ala121Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala142Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala159Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala167Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala182Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala205Ser
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Ala205Val
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Ala207Val Uncertain significance Single submitter
- HOXA13 p.Ala237Thr Uncertain significance Single submitter
-
HOXA13 p.Ala280Val
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Ala296Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala38Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala44Val
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Ala47Val Uncertain significance Single submitter
-
HOXA13 p.Ala53Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala64Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala80Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala92Val
Uncertain significance
Single submitter
Guttmacher syndrome
- HOXA13 p.Asn372Ser Uncertain significance Single submitter
-
HOXA13 p.Gln152Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Glu111Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Gly140Cys Uncertain significance Single submitter
-
HOXA13 p.Gly215Ser
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Gly234Ser
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Gly23Ala
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Gly23Ser
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Gly248Ser
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Gly262Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Gly262Ser Uncertain significance Single submitter
- HOXA13 p.Gly284Ser Uncertain significance Single submitter
-
HOXA13 p.Gly55Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Gly68Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.His187Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.His266Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.His266Tyr Uncertain significance Single submitter
-
HOXA13 p.Leu26Val
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Leu361Pro Uncertain significance Single submitter
- HOXA13 p.Lys151Arg Uncertain significance Single submitter
-
HOXA13 p.Lys303Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Met211Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Met289Ile Uncertain significance Single submitter
-
HOXA13 p.Pro109Leu
Uncertain significance
Single submitter
Guttmacher syndrome
- HOXA13 p.Pro113Ser Uncertain significance Single submitter
-
HOXA13 p.Pro141Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Pro144Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Pro180Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Pro313Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Pro61Thr
Uncertain significance
Single submitter
Guttmacher syndrome
- HOXA13 p.Pro94Ala Uncertain significance Single submitter
-
HOXA13 p.Ser134Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ser134Pro
Uncertain significance
Single submitter
Guttmacher syndrome
- HOXA13 p.Ser362Tyr Uncertain significance Single submitter
-
HOXA13 p.Thr358Met
Uncertain significance
Single submitter
Guttmacher syndrome
- HOXA13 p.Thr387Ala Uncertain significance Single submitter
- HOXA13 p.Tyr319Cys Uncertain significance Single submitter
-
HOXA13 p.Ala218Thr
Uncertain significance
No assertion criteria
HOXA13-related disorder
- HOXA13 p.Arg320Ser Uncertain significance No assertion criteria
-
HOXA13 p.Ser136Pro
Uncertain significance
No assertion criteria
HOXA13-related disorder
Predictors split 44
The independent predictors disagree with each other — read with care.
-
HOXA13 p.Ala132Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Ala45Thr
Uncertain significance
Multiple submitters
Guttmacher syndrome
-
HOXA13 p.Ala64Glu
Uncertain significance
Multiple submitters
Guttmacher syndrome
-
HOXA13 p.Arg88His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Cys194Ser
Uncertain significance
Multiple submitters
Guttmacher syndrome
-
HOXA13 p.Gly110Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOXA13 p.Met184Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HOXA13 p.Met211Ile Benign/Likely benign Multiple submitters
-
HOXA13 p.Ser154Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HOXA13 p.Ala118Thr Uncertain significance Single submitter
-
HOXA13 p.Ala122Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala124Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Ala125Thr Uncertain significance Single submitter
- HOXA13 p.Ala204Thr Uncertain significance Single submitter
-
HOXA13 p.Ala229Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala38Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Ala44Gly Uncertain significance Single submitter
- HOXA13 p.Ala45Ser Uncertain significance Single submitter
-
HOXA13 p.Ala65Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ala82Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Arg183Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Arg321Lys Uncertain significance Single submitter
-
HOXA13 p.Arg353Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Asn34Asp Uncertain significance Single submitter
- HOXA13 p.Asp208His Uncertain significance Single submitter
-
HOXA13 p.Cys291Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Glu274Gln Uncertain significance Single submitter
-
HOXA13 p.Glu30Gln
Uncertain significance
Single submitter
Guttmacher syndrome
- HOXA13 p.Gly177Arg Likely benign Single submitter
-
HOXA13 p.Gly215Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- HOXA13 p.Gly52Trp Uncertain significance Single submitter
-
HOXA13 p.His93Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Ile381Phe
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Lys226Arg
Uncertain significance
Single submitter
Guttmacher syndrome
-
HOXA13 p.Lys351Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Lys383Arg
Uncertain significance
Single submitter
Guttmacher syndrome
- HOXA13 p.Met273Lys Uncertain significance Single submitter
-
HOXA13 p.Phe228Ser
Uncertain significance
Single submitter
Guttmacher syndrome
- HOXA13 p.Pro155Leu Uncertain significance Single submitter
- HOXA13 p.Pro94Arg Uncertain significance Single submitter
- HOXA13 p.Ser107Arg Uncertain significance Single submitter
- HOXA13 p.Ser157Leu Uncertain significance Single submitter
-
HOXA13 p.Ser318Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOXA13 p.Tyr290Ser
Likely pathogenic
No assertion criteria
hand-foot-genital syndrome
All HOXA13 variants
Pathogenic 7
- p.Gln244Ter Single submitter hand-foot-genital syndrome
- p.Trp369Ter Single submitter HOXA13-related disorders
- p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla No assertion criteria hand-foot-genital syndrome
- p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla No assertion criteria hand-foot-genital syndrome
- p.Asn372His No assertion criteria hand-foot-genital syndrome
- p.Ser136fs No assertion criteria hand-foot-genital syndrome
- p.Ser136Ter No assertion criteria hand-foot-genital syndrome
Pathogenic/Likely pathogenic 1
- p.Ala133_Ser134insAlaAlaAlaAlaAlaAla No assertion criteria hand-foot-genital syndrome
Likely pathogenic 4
- p.Ala142fs Single submitter Guttmacher syndrome
- p.Gly248fs Single submitter hand-foot-genital syndrome
- p.Trp279Ter Single submitter Guttmacher syndrome
- p.Tyr290Ser No assertion criteria hand-foot-genital syndrome ⚠
Conflicting classifications of pathogenicity 7
- p.Ala122_Ala133del Single submitter
- p.Ala124_Ala133del Single submitter Guttmacher syndrome
- p.Ala125_Ala133del Single submitter Guttmacher syndrome
- p.Gln295Pro Single submitter hand-foot-genital syndrome ⚠
- p.Lys192Arg Single submitter Inborn genetic diseases ⚠
- p.Pro59Ala Single submitter hand-foot-genital syndrome ⚠
- p.Val16Ile Single submitter Inborn genetic diseases
Benign 9
- p.Ala168= Multiple submitters
- c.922+13C>T Single submitter
- c.922+84G>C Single submitter
- p.Ala133del Single submitter
- p.Ala159= Single submitter
- p.Ala43= Single submitter
- p.Ala49= Single submitter
- p.Gly140_Pro141insGlnAlaGly Single submitter
- p.Pro299= Single submitter
Benign/Likely benign 5
- p.Ala160= Multiple submitters Guttmacher syndrome
- p.Ala205_Phe206insAla Multiple submitters congenital heart disease
- p.Ala357= Multiple submitters
- p.Leu334= Multiple submitters
- p.Met211Ile Multiple submitters ⚠
Likely benign 61
- p.Ala119= Multiple submitters
- p.Ala127_Ala133del Multiple submitters Guttmacher syndrome
- p.Ala128_Ala133del Multiple submitters Guttmacher syndrome
- p.Ala50= Multiple submitters
- p.Ala78= Multiple submitters hand-foot-genital syndrome
- p.Gln152= Multiple submitters
- p.Pro114= Multiple submitters
- p.Pro59= Multiple submitters
- c.922+12C>T Single submitter
- c.922+14T>C Single submitter
- p.Ala120= Single submitter
- p.Ala121= Single submitter
- p.Ala122= Single submitter
- p.Ala124= Single submitter
- p.Ala237= Single submitter
- p.Ala44= Single submitter
- p.Ala51= Single submitter
- p.Ala53= Single submitter
- p.Ala73= Single submitter
- p.Ala79= Single submitter
- p.Ala81= Single submitter
- p.Ala98= Single submitter
- p.Asn69= Single submitter
- p.Asp212= Single submitter
- p.Cys87= Single submitter
- p.Gln196= Single submitter
- p.Gln333= Single submitter
- p.Gly177= Single submitter
- p.Gly177Arg Single submitter ⚠
- p.Gly270= Single submitter
- p.Gly287Ser Single submitter Guttmacher syndrome
- p.His187= Single submitter
- p.His8= Single submitter
- p.Ile12= Single submitter
- p.Leu90= Single submitter
- p.Leu97= Single submitter
- p.Lys226= Single submitter
- p.Pro113= Single submitter
- p.Pro141= Single submitter
- p.Pro166Ser Single submitter
- p.Pro188Ala Single submitter
- p.Pro197= Single submitter
- p.Pro328= Single submitter
- p.Pro9Ser Single submitter
- p.Ser115= Single submitter
- p.Ser163Leu Single submitter
- p.Ser193= Single submitter
- p.Thr15= Single submitter
- p.Thr343= Single submitter
- p.Tyr290= Single submitter
- p.Ala125= No assertion criteria HOXA13-related disorder
- p.Ala126= No assertion criteria HOXA13-related disorder
- p.Ala128= No assertion criteria HOXA13-related disorder
- p.Ala130= No assertion criteria HOXA13-related disorder
- p.Ala41= No assertion criteria HOXA13-related disorder
- p.Ala42= No assertion criteria HOXA13-related disorder
- p.Ala43_Ala51del No assertion criteria
- p.Ala45= No assertion criteria HOXA13-related disorder
- p.Ala76= No assertion criteria HOXA13-related disorder
- p.Asn283= No assertion criteria HOXA13-related disorder
- p.Gln86= No assertion criteria HOXA13-related disorder
Uncertain significance 141
- p.Ala132Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala150Thr Multiple submitters Guttmacher syndrome ⚠
- p.Ala45Thr Multiple submitters Guttmacher syndrome ⚠
- p.Ala64Glu Multiple submitters Guttmacher syndrome ⚠
- p.Ala66Ser Multiple submitters ⚠
- p.Ala92Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg88His Multiple submitters Inborn genetic diseases ⚠
- p.Asn189Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn283Ser Multiple submitters Inborn genetic diseases ⚠
- p.Cys194Ser Multiple submitters Guttmacher syndrome ⚠
- p.Gly110Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly177Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu169Val Multiple submitters Guttmacher syndrome
- p.Met184Lys Multiple submitters Inborn genetic diseases ⚠
- p.Phe221Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro144Leu Multiple submitters Guttmacher syndrome ⚠
- p.Pro59Ser Multiple submitters Guttmacher syndrome ⚠
- p.Ser154Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser176Asn Multiple submitters hand-foot-genital syndrome ⚠
- p.Ser317Thr Multiple submitters Inborn genetic diseases ⚠
- p.Val327Met Multiple submitters Inborn genetic diseases ⚠
- c.923-3T>C Single submitter
- p.141PAG[1] Single submitter Guttmacher syndrome
- p.Ala102Pro Single submitter Guttmacher syndrome ⚠
- p.Ala118Thr Single submitter ⚠
- p.Ala121_Ala133del Single submitter
- p.Ala121Val Single submitter Inborn genetic diseases ⚠
- p.Ala122Ser Single submitter Inborn genetic diseases ⚠
- p.Ala123_Ala133del Single submitter
- p.Ala124Asp Single submitter Inborn genetic diseases ⚠
- p.Ala125Thr Single submitter ⚠
- p.Ala131_Ala133del Single submitter
- p.Ala133_Ser134insAlaAlaAla Single submitter
- p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAla Single submitter
- p.Ala142Pro Single submitter Inborn genetic diseases ⚠
- p.Ala159Val Single submitter Inborn genetic diseases ⚠
- p.Ala167Gly Single submitter Inborn genetic diseases ⚠
- p.Ala182Ser Single submitter Inborn genetic diseases ⚠
- p.Ala201= Single submitter
- p.Ala202= Single submitter Guttmacher syndrome
- p.Ala204_Ala205del Single submitter
- p.Ala204Thr Single submitter ⚠
- p.Ala205_Phe206insAlaAlaAla Single submitter
- p.Ala205Ser Single submitter Guttmacher syndrome ⚠
- p.Ala205Val Single submitter Inborn genetic diseases ⚠
- p.Ala207Val Single submitter ⚠
- p.Ala229Asp Single submitter Inborn genetic diseases ⚠
- p.Ala237Thr Single submitter ⚠
- p.Ala280Val Single submitter Guttmacher syndrome ⚠
- p.Ala296Glu Single submitter Inborn genetic diseases ⚠
- p.Ala38Glu Single submitter Inborn genetic diseases ⚠
- p.Ala38Thr Single submitter Inborn genetic diseases ⚠
- p.Ala44Gly Single submitter ⚠
- p.Ala44Val Single submitter Inborn genetic diseases ⚠
- p.Ala45Ser Single submitter ⚠
- p.Ala47Val Single submitter ⚠
- p.Ala48_Ala51del Single submitter
- p.Ala51_Gly52insAla Single submitter
- p.Ala51_Gly52insAlaAlaAlaAla Single submitter Guttmacher syndrome
- p.Ala51_Gly52insAlaAlaAlaAlaAlaAlaAlaAlaAla Single submitter
- p.Ala53Thr Single submitter Inborn genetic diseases ⚠
- p.Ala64Val Single submitter Inborn genetic diseases ⚠
- p.Ala65Thr Single submitter Inborn genetic diseases ⚠
- p.Ala79_Ala84del Single submitter
- p.Ala80Val Single submitter Inborn genetic diseases ⚠
- p.Ala82Asp Single submitter Inborn genetic diseases ⚠
- p.Ala92Val Single submitter Guttmacher syndrome ⚠
- p.Arg183Leu Single submitter Inborn genetic diseases ⚠
- p.Arg321Lys Single submitter ⚠
- p.Arg353Lys Single submitter Inborn genetic diseases ⚠
- p.Asn34Asp Single submitter ⚠
- p.Asn372Ser Single submitter ⚠
- p.Asp208His Single submitter ⚠
- p.Cys291Arg Single submitter Inborn genetic diseases ⚠
- p.Gln152Pro Single submitter Inborn genetic diseases ⚠
- p.Gln161Ter Single submitter
- p.Gln297Arg Single submitter
- p.Glu111Gln Single submitter Inborn genetic diseases ⚠
- p.Glu274Gln Single submitter ⚠
- p.Glu30Gln Single submitter Guttmacher syndrome ⚠
- p.Glu363= Single submitter
- p.Gly110fs Single submitter hand-foot-genital syndrome
- p.Gly140Cys Single submitter ⚠
- p.Gly215Asp Single submitter Inborn genetic diseases ⚠
- p.Gly215Ser Single submitter Guttmacher syndrome ⚠
- p.Gly234Ser Single submitter Guttmacher syndrome ⚠
- p.Gly23Ala Single submitter Guttmacher syndrome ⚠
- p.Gly23Ser Single submitter Guttmacher syndrome ⚠
- p.Gly248Ser Single submitter Guttmacher syndrome ⚠
- p.Gly262Cys Single submitter Inborn genetic diseases ⚠
- p.Gly262Ser Single submitter ⚠
- p.Gly284Ser Single submitter ⚠
- p.Gly37= Single submitter
- p.Gly52Trp Single submitter ⚠
- p.Gly55Ser Single submitter Inborn genetic diseases ⚠
- p.Gly68Ala Single submitter Inborn genetic diseases ⚠
- p.His187Pro Single submitter Inborn genetic diseases ⚠
- p.His266Gln Single submitter Inborn genetic diseases ⚠
- p.His266Tyr Single submitter ⚠
- p.His8Gln Single submitter
- p.His8Tyr Single submitter
- p.His93Gln Single submitter Inborn genetic diseases ⚠
- p.Ile381Phe Single submitter Guttmacher syndrome ⚠
- p.Leu26Val Single submitter Inborn genetic diseases ⚠
- p.Leu361Pro Single submitter ⚠
- p.Lys151Arg Single submitter ⚠
- p.Lys226Arg Single submitter Guttmacher syndrome ⚠
- p.Lys303Arg Single submitter Inborn genetic diseases ⚠
- p.Lys351Arg Single submitter Inborn genetic diseases ⚠
- p.Lys383Arg Single submitter Guttmacher syndrome ⚠
- p.Met211Leu Single submitter Inborn genetic diseases ⚠
- p.Met273Lys Single submitter ⚠
- p.Met289Ile Single submitter ⚠
- p.Met35Val Single submitter Inborn genetic diseases
- p.Phe228Ser Single submitter Guttmacher syndrome ⚠
- p.Pro109Leu Single submitter Guttmacher syndrome ⚠
- p.Pro113Ser Single submitter ⚠
- p.Pro141Ser Single submitter Inborn genetic diseases ⚠
- p.Pro144Arg Single submitter Inborn genetic diseases ⚠
- p.Pro155= Single submitter Guttmacher syndrome
- p.Pro155Leu Single submitter ⚠
- p.Pro180Ser Single submitter Inborn genetic diseases ⚠
- p.Pro307= Single submitter
- p.Pro313Leu Single submitter Inborn genetic diseases ⚠
- p.Pro61Thr Single submitter Guttmacher syndrome ⚠
- p.Pro94Ala Single submitter ⚠
- p.Pro94Arg Single submitter ⚠
- p.Ser106fs Single submitter
- p.Ser107Arg Single submitter ⚠
- p.Ser134Leu Single submitter Inborn genetic diseases ⚠
- p.Ser134Pro Single submitter Guttmacher syndrome ⚠
- p.Ser157Leu Single submitter ⚠
- p.Ser318Phe Single submitter Inborn genetic diseases ⚠
- p.Ser362Tyr Single submitter ⚠
- p.Thr358Met Single submitter Guttmacher syndrome ⚠
- p.Thr387Ala Single submitter ⚠
- p.Tyr171Cys Single submitter Guttmacher syndrome
- p.Tyr319Cys Single submitter ⚠
- p.Ala218Thr No assertion criteria HOXA13-related disorder ⚠
- p.Arg320Ser No assertion criteria ⚠
- p.Ser136Pro No assertion criteria HOXA13-related disorder ⚠