FOXH1 — 280 ClinVar variants
All ClinVar germline FOXH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →
6 Likely pathogenic · 10 Conflicting · 15 Benign · 9 Benign/Likely benign · 50 Likely benign · 190 Uncertain significance
Full FOXH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 167
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FOXH1 p.Glu165Gln
Likely pathogenic
Single submitter
Conotruncal defect
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FOXH1 p.Arg89Gln
Conflicting
Single submitter
Inborn genetic diseases
- FOXH1 p.Gly195Val Conflicting Single submitter
-
FOXH1 p.Lys78Glu
Conflicting
Single submitter
Conotruncal defect
-
FOXH1 p.Pro163Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ser16Leu
Conflicting
Single submitter
holoprosencephaly
Predictors lean, ClinVar uncertain 141
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FOXH1 p.Ala136Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Ala139Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Ala249Val
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Ala271Val
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Arg30Gln
Uncertain significance
Multiple submitters
FOXH1-related disorder
-
FOXH1 p.Arg61Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Asp350Gly
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Glu15Val
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Glu178Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Glu229Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Gly135Ser
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Gly235Glu
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Gly322Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Gly322Val
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.His31Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Lys26Arg
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Met41Thr
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Pro183Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Pro187Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Pro191Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Pro193Thr
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Pro20Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Pro301Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Ser176Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Ser189Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Ser5Asn
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Val204Leu
Uncertain significance
Multiple submitters
FOXH1-related disorder
-
FOXH1 p.Val343Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Ala117Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Ala117Val Uncertain significance Single submitter
-
FOXH1 p.Ala126Thr
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ala136Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ala14Thr
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Ala180Gly Uncertain significance Single submitter
-
FOXH1 p.Ala186Val
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ala259Thr
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ala259Val
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ala309Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ala309Val
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Ala329Val Uncertain significance Single submitter
- FOXH1 p.Ala352Val Uncertain significance Single submitter
-
FOXH1 p.Ala353Thr
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ala353Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ala48Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ala65Thr
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ala99Glu
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Arg121Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Arg129Trp
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Arg130His
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Arg137Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Arg214Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Arg227Lys
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Arg264Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Arg264Pro
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Arg270Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Arg52Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Arg61Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Arg61His
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Arg61Leu
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Arg71Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Arg82Ser
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Arg8His
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Asn288Ser Uncertain significance Single submitter
- FOXH1 p.Asn84His Uncertain significance Single submitter
-
FOXH1 p.Cys325Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Cys325Tyr
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Cys90Tyr Uncertain significance Single submitter
-
FOXH1 p.Gln276Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Glu15Ala Uncertain significance Single submitter
-
FOXH1 p.Glu202Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Glu231Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Gly105Ala
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Gly105Asp Uncertain significance Single submitter
-
FOXH1 p.Gly105Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Gly145Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Gly151Arg Uncertain significance Single submitter
-
FOXH1 p.Gly166Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Gly174Glu
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Gly175Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Gly177Arg Uncertain significance Single submitter
-
FOXH1 p.Gly200Glu
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Gly235Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Gly236Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Gly262Val
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Gly267Arg
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Gly268Val Uncertain significance Single submitter
-
FOXH1 p.Gly355Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.His150Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ile238Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ile238Met
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Ile81Thr Uncertain significance Single submitter
-
FOXH1 p.Leu243Phe
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Leu293Trp
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Leu360Ile Uncertain significance Single submitter
-
FOXH1 p.Leu56Arg
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Lys142Glu
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Lys96Arg Uncertain significance Single submitter
- FOXH1 p.Pro11Thr Uncertain significance Single submitter
-
FOXH1 p.Pro153Thr
Uncertain significance
Single submitter
FOXH1-related disorder
-
FOXH1 p.Pro157Arg
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Pro159Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Pro160Ala
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Pro181Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Pro207Leu Uncertain significance Single submitter
-
FOXH1 p.Pro207Ser
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Pro20Thr Uncertain significance Single submitter
-
FOXH1 p.Pro210Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Pro215Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Pro215Ser
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Pro218Leu
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Pro218Ser Uncertain significance Single submitter
-
FOXH1 p.Pro221Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Pro247Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Pro292Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Pro297Ser
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Pro304Ala Uncertain significance Single submitter
-
FOXH1 p.Pro308Leu
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Pro320Ser
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Pro321Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Pro321Gln
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Pro335Leu
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Pro34Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Pro354Ser
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ser158Thr
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ser176Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ser189Arg
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ser211Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ser265Tyr
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Ser280Ala Uncertain significance Single submitter
-
FOXH1 p.Ser280Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXH1 p.Ser5Cys
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Ser86Phe Uncertain significance Single submitter
-
FOXH1 p.Thr232Ala
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Thr286Pro
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Thr306Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Thr37Ile Uncertain significance Single submitter
- FOXH1 p.Trp274Leu Uncertain significance Single submitter
-
FOXH1 p.Val148Met
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Val290Ile
Uncertain significance
Single submitter
holoprosencephaly
- FOXH1 p.Val345Ile Uncertain significance Single submitter
- FOXH1 p.Gly151Asp Uncertain significance No assertion criteria
Predictors split 20
The independent predictors disagree with each other — read with care.
-
FOXH1 p.Ala43Val
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Arg129Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Asp342Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXH1 p.Ile169Met
Uncertain significance
Multiple submitters
holoprosencephaly
-
FOXH1 p.Ser113Thr
Benign/Likely benign
Multiple submitters
holoprosencephaly
-
FOXH1 p.Thr125Ser
Benign/Likely benign
Multiple submitters
holoprosencephaly
-
FOXH1 p.Asp326His
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Asp79Gly Uncertain significance Single submitter
-
FOXH1 p.Ile115Met
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXH1 p.Leu56Val Uncertain significance Single submitter
-
FOXH1 p.Lys55Gln
Conflicting
Single submitter
Inborn genetic diseases
-
FOXH1 p.Phe167Leu
Conflicting
Single submitter
Inborn genetic diseases
-
FOXH1 p.Phe69Leu
Likely pathogenic
Single submitter
Conotruncal defect
-
FOXH1 p.Phe69Ser
Likely pathogenic
Single submitter
Conotruncal defect
-
FOXH1 p.Pro34Ser
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Pro98Ser
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Ser87Cys
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Trp311Cys
Uncertain significance
Single submitter
holoprosencephaly
-
FOXH1 p.Val112Met
Likely benign
Single submitter
holoprosencephaly
- FOXH1 p.Val63Ala Uncertain significance Single submitter
All FOXH1 variants
Likely pathogenic 6
- p.Glu165Gln Single submitter Conotruncal defect ⚠
- p.Lys93Glu Single submitter Conotruncal defect
- p.Phe69Leu Single submitter Conotruncal defect ⚠
- p.Phe69Ser Single submitter Conotruncal defect ⚠
- p.Phe70Ser Single submitter Conotruncal defect
- p.Pro35Arg Single submitter Conotruncal defect
Conflicting classifications of pathogenicity 10
- p.Arg89Gln Single submitter Inborn genetic diseases ⚠
- p.Glu75Gly Single submitter holoprosencephaly
- p.Gly195Val Single submitter ⚠
- p.Leu44Val Single submitter holoprosencephaly
- p.Lys55Gln Single submitter Inborn genetic diseases ⚠
- p.Lys78Glu Single submitter Conotruncal defect ⚠
- p.Phe167Leu Single submitter Inborn genetic diseases ⚠
- p.Pro163Ser Single submitter Inborn genetic diseases ⚠
- p.Ser16Leu Single submitter holoprosencephaly ⚠
- p.Ser5= Single submitter holoprosencephaly
Benign 15
- c.175-30C>T Multiple submitters
- c.-314T>G Multiple submitters holoprosencephaly
- c.*20A>G Multiple submitters holoprosencephaly
- p.Gly175= Multiple submitters holoprosencephaly
- p.His150= Multiple submitters holoprosencephaly
- p.Leu359= Multiple submitters holoprosencephaly
- c.175-151T>C Single submitter
- c.-27C>A Single submitter holoprosencephaly
- c.-307G>A Single submitter holoprosencephaly
- c.-333T>C Single submitter holoprosencephaly
- c.*1G>A Single submitter
- c.*311C>T Single submitter holoprosencephaly
- c.*472G>T Single submitter holoprosencephaly
- c.*55C>T Single submitter holoprosencephaly
- p.Thr206Ile Single submitter holoprosencephaly
Benign/Likely benign 9
- c.-54C>T Multiple submitters holoprosencephaly
- p.Arg121= Multiple submitters holoprosencephaly
- p.Asp328Glu Multiple submitters holoprosencephaly
- p.Gly257= Multiple submitters holoprosencephaly
- p.Pro261= Multiple submitters holoprosencephaly
- p.Pro304= Multiple submitters holoprosencephaly
- p.Ser113Thr Multiple submitters holoprosencephaly ⚠
- p.Thr125Ser Multiple submitters holoprosencephaly ⚠
- p.Tyr341= Multiple submitters holoprosencephaly
Likely benign 50
- p.Pro11His Multiple submitters holoprosencephaly
- p.Pro159= Multiple submitters holoprosencephaly
- p.Pro187= Multiple submitters holoprosencephaly
- c.175-15G>A Single submitter
- c.175-16C>G Single submitter
- c.175-16C>T Single submitter
- c.280-10_280-9insAA Single submitter holoprosencephaly
- c.*233G>A Single submitter holoprosencephaly
- c.*23C>T Single submitter holoprosencephaly
- p.Ala203= Single submitter holoprosencephaly
- p.Ala352= Single submitter holoprosencephaly
- p.Ala43= Single submitter
- p.Arg137= Single submitter
- p.Arg23= Single submitter holoprosencephaly
- p.Arg270= Single submitter holoprosencephaly
- p.Arg349= Single submitter holoprosencephaly
- p.Asn288= Single submitter
- p.Asp342= Single submitter holoprosencephaly
- p.Asp350= Single submitter holoprosencephaly
- p.Asp73= Single submitter holoprosencephaly
- p.Cys220= Single submitter holoprosencephaly
- p.Glu202= Single submitter holoprosencephaly
- p.Glu75= Single submitter
- p.Gly2= Single submitter holoprosencephaly
- p.Gly275= Single submitter holoprosencephaly
- p.Gly312= Single submitter holoprosencephaly
- p.Gly357= Single submitter holoprosencephaly
- p.Ile238= Single submitter holoprosencephaly
- p.Leu255= Single submitter holoprosencephaly
- p.Lys142= Single submitter
- p.Lys170= Single submitter
- p.Lys25= Single submitter holoprosencephaly
- p.Lys55= Single submitter holoprosencephaly
- p.Pro12= Single submitter holoprosencephaly
- p.Pro156= Single submitter holoprosencephaly
- p.Pro160= Single submitter holoprosencephaly
- p.Pro183= Single submitter holoprosencephaly
- p.Pro240= Single submitter
- p.Ser16= Single submitter holoprosencephaly
- p.Ser18= Single submitter holoprosencephaly
- p.Ser361= Single submitter
- p.Thr242= Single submitter holoprosencephaly
- p.Tyr281= Single submitter holoprosencephaly
- p.Val112Met Single submitter holoprosencephaly ⚠
- p.Val148= Single submitter holoprosencephaly
- p.Val260= Single submitter holoprosencephaly
- p.Val289= Single submitter holoprosencephaly
- p.Val94= Single submitter holoprosencephaly
- p.Arg152= No assertion criteria FOXH1-related disorder
- p.Ser265= No assertion criteria FOXH1-related disorder
Uncertain significance 190
- c.*74G>A Multiple submitters holoprosencephaly
- p.Ala136Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala139Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala249Val Multiple submitters holoprosencephaly ⚠
- p.Ala271Val Multiple submitters holoprosencephaly ⚠
- p.Ala43Val Multiple submitters holoprosencephaly ⚠
- p.Arg129Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg30Gln Multiple submitters FOXH1-related disorder ⚠
- p.Arg61Pro Multiple submitters Inborn genetic diseases ⚠
- p.Asp342Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp350Gly Multiple submitters holoprosencephaly ⚠
- p.Glu15Val Multiple submitters holoprosencephaly ⚠
- p.Glu178Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu229Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly135Ser Multiple submitters holoprosencephaly ⚠
- p.Gly235Glu Multiple submitters holoprosencephaly ⚠
- p.Gly322Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly322Val Multiple submitters holoprosencephaly ⚠
- p.His31Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile169Met Multiple submitters holoprosencephaly ⚠
- p.Lys26Arg Multiple submitters holoprosencephaly ⚠
- p.Met41Thr Multiple submitters holoprosencephaly ⚠
- p.Pro183Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro187Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro191Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro193Thr Multiple submitters holoprosencephaly ⚠
- p.Pro20Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro301Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser176Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser189Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser5Asn Multiple submitters holoprosencephaly ⚠
- p.Val204Leu Multiple submitters FOXH1-related disorder ⚠
- p.Val343Ile Multiple submitters Inborn genetic diseases ⚠
- c.2041_2044delinsGAAG Single submitter CBL-related disorder
- c.-206C>T Single submitter holoprosencephaly
- c.-275G>T Single submitter holoprosencephaly
- c.-280G>A Single submitter holoprosencephaly
- c.-307G>C Single submitter holoprosencephaly
- c.-337G>A Single submitter holoprosencephaly
- c.-446T>C Single submitter holoprosencephaly
- c.-506G>A Single submitter holoprosencephaly
- c.-527C>T Single submitter holoprosencephaly
- c.-53G>A Single submitter holoprosencephaly
- c.-543C>T Single submitter holoprosencephaly
- c.*172C>G Single submitter holoprosencephaly
- c.*21C>A Single submitter holoprosencephaly
- c.*322C>A Single submitter holoprosencephaly
- c.*354C>T Single submitter holoprosencephaly
- c.*382C>T Single submitter holoprosencephaly
- c.*423G>A Single submitter holoprosencephaly
- c.*430G>A Single submitter holoprosencephaly
- c.*436G>A Single submitter holoprosencephaly
- c.*451C>T Single submitter holoprosencephaly
- c.*88A>G Single submitter holoprosencephaly
- p.Ala117Gly Single submitter Inborn genetic diseases ⚠
- p.Ala117Val Single submitter ⚠
- p.Ala126Thr Single submitter holoprosencephaly ⚠
- p.Ala136Val Single submitter Inborn genetic diseases ⚠
- p.Ala14Thr Single submitter holoprosencephaly ⚠
- p.Ala180Gly Single submitter ⚠
- p.Ala186Val Single submitter holoprosencephaly ⚠
- p.Ala259Thr Single submitter holoprosencephaly ⚠
- p.Ala259Val Single submitter holoprosencephaly ⚠
- p.Ala309Thr Single submitter Inborn genetic diseases ⚠
- p.Ala309Val Single submitter holoprosencephaly ⚠
- p.Ala329Val Single submitter ⚠
- p.Ala352Val Single submitter ⚠
- p.Ala353Thr Single submitter holoprosencephaly ⚠
- p.Ala353Val Single submitter Inborn genetic diseases ⚠
- p.Ala48Thr Single submitter Inborn genetic diseases ⚠
- p.Ala65Thr Single submitter holoprosencephaly ⚠
- p.Ala99Glu Single submitter holoprosencephaly ⚠
- p.Arg121Gln Single submitter Inborn genetic diseases ⚠
- p.Arg129Trp Single submitter holoprosencephaly ⚠
- p.Arg130His Single submitter holoprosencephaly ⚠
- p.Arg137Pro Single submitter Inborn genetic diseases ⚠
- p.Arg214Lys Single submitter Inborn genetic diseases ⚠
- p.Arg227Lys Single submitter holoprosencephaly ⚠
- p.Arg264Gln Single submitter Inborn genetic diseases ⚠
- p.Arg264Pro Single submitter holoprosencephaly ⚠
- p.Arg27= Single submitter holoprosencephaly
- p.Arg270Thr Single submitter Inborn genetic diseases ⚠
- p.Arg52Ser Single submitter Inborn genetic diseases ⚠
- p.Arg61Cys Single submitter Inborn genetic diseases ⚠
- p.Arg61His Single submitter holoprosencephaly ⚠
- p.Arg61Leu Single submitter holoprosencephaly ⚠
- p.Arg71Lys Single submitter Inborn genetic diseases ⚠
- p.Arg82Ser Single submitter holoprosencephaly ⚠
- p.Arg8His Single submitter Inborn genetic diseases ⚠
- p.Asn288Ser Single submitter ⚠
- p.Asn84His Single submitter ⚠
- p.Asp326His Single submitter Inborn genetic diseases ⚠
- p.Asp79Gly Single submitter ⚠
- p.Asp97Asn Single submitter Inborn genetic diseases
- p.Cys303Arg Single submitter
- p.Cys325Arg Single submitter Inborn genetic diseases ⚠
- p.Cys325Tyr Single submitter holoprosencephaly ⚠
- p.Cys90Tyr Single submitter ⚠
- p.Gln276Lys Single submitter Inborn genetic diseases ⚠
- p.Gln332Ter Single submitter
- p.Glu13_Ala14delinsAspVal Single submitter
- p.Glu15Ala Single submitter ⚠
- p.Glu202Ala Single submitter Inborn genetic diseases ⚠
- p.Glu231Lys Single submitter Inborn genetic diseases ⚠
- p.Glu72fs Single submitter holoprosencephaly
- p.Glu75Asp Single submitter holoprosencephaly
- p.Gly105Ala Single submitter holoprosencephaly ⚠
- p.Gly105Asp Single submitter ⚠
- p.Gly105Ser Single submitter Inborn genetic diseases ⚠
- p.Gly145Arg Single submitter Inborn genetic diseases ⚠
- p.Gly151Arg Single submitter ⚠
- p.Gly166Ser Single submitter Inborn genetic diseases ⚠
- p.Gly174Glu Single submitter holoprosencephaly ⚠
- p.Gly175Arg Single submitter Inborn genetic diseases ⚠
- p.Gly177Arg Single submitter ⚠
- p.Gly200Glu Single submitter holoprosencephaly ⚠
- p.Gly235Arg Single submitter Inborn genetic diseases ⚠
- p.Gly236Glu Single submitter Inborn genetic diseases ⚠
- p.Gly262Val Single submitter holoprosencephaly ⚠
- p.Gly267Arg Single submitter holoprosencephaly ⚠
- p.Gly268Val Single submitter ⚠
- p.Gly355Asp Single submitter Inborn genetic diseases ⚠
- p.His150Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile115Met Single submitter Inborn genetic diseases ⚠
- p.Ile238Leu Single submitter Inborn genetic diseases ⚠
- p.Ile238Met Single submitter Inborn genetic diseases ⚠
- p.Ile81Thr Single submitter ⚠
- p.Leu243Phe Single submitter holoprosencephaly ⚠
- p.Leu293Trp Single submitter holoprosencephaly ⚠
- p.Leu360Ile Single submitter ⚠
- p.Leu56Arg Single submitter holoprosencephaly ⚠
- p.Leu56Val Single submitter ⚠
- p.Leu85_Asn88del Single submitter holoprosencephaly
- p.Lys142Glu Single submitter holoprosencephaly ⚠
- p.Lys96Arg Single submitter ⚠
- p.Met1Lys Single submitter holoprosencephaly
- p.Pro11Thr Single submitter ⚠
- p.Pro153Thr Single submitter FOXH1-related disorder ⚠
- p.Pro157Arg Single submitter holoprosencephaly ⚠
- p.Pro159Ser Single submitter Inborn genetic diseases ⚠
- p.Pro160Ala Single submitter holoprosencephaly ⚠
- p.Pro181Leu Single submitter Inborn genetic diseases ⚠
- p.Pro207= Single submitter
- p.Pro207Leu Single submitter ⚠
- p.Pro207Ser Single submitter holoprosencephaly ⚠
- p.Pro20Thr Single submitter ⚠
- p.Pro210Ser Single submitter Inborn genetic diseases ⚠
- p.Pro215Ala Single submitter Inborn genetic diseases ⚠
- p.Pro215Ser Single submitter holoprosencephaly ⚠
- p.Pro218Leu Single submitter holoprosencephaly ⚠
- p.Pro218Ser Single submitter ⚠
- p.Pro221Arg Single submitter Inborn genetic diseases ⚠
- p.Pro247Ser Single submitter Inborn genetic diseases ⚠
- p.Pro287Ser Single submitter
- p.Pro292Leu Single submitter Inborn genetic diseases ⚠
- p.Pro297Ser Single submitter holoprosencephaly ⚠
- p.Pro304Ala Single submitter ⚠
- p.Pro308Leu Single submitter holoprosencephaly ⚠
- p.Pro320Ser Single submitter holoprosencephaly ⚠
- p.Pro321Ala Single submitter Inborn genetic diseases ⚠
- p.Pro321Gln Single submitter holoprosencephaly ⚠
- p.Pro335Leu Single submitter holoprosencephaly ⚠
- p.Pro34Leu Single submitter Inborn genetic diseases ⚠
- p.Pro34Ser Single submitter holoprosencephaly ⚠
- p.Pro354Ser Single submitter holoprosencephaly ⚠
- p.Pro50del Single submitter holoprosencephaly
- p.Pro98Ser Single submitter holoprosencephaly ⚠
- p.Ser158Thr Single submitter holoprosencephaly ⚠
- p.Ser176Phe Single submitter Inborn genetic diseases ⚠
- p.Ser189Arg Single submitter holoprosencephaly ⚠
- p.Ser211Pro Single submitter Inborn genetic diseases ⚠
- p.Ser265Tyr Single submitter holoprosencephaly ⚠
- p.Ser280Ala Single submitter ⚠
- p.Ser280Thr Single submitter Inborn genetic diseases ⚠
- p.Ser5Cys Single submitter holoprosencephaly ⚠
- p.Ser86Phe Single submitter ⚠
- p.Ser87Cys Single submitter holoprosencephaly ⚠
- p.Thr232Ala Single submitter holoprosencephaly ⚠
- p.Thr286Pro Single submitter holoprosencephaly ⚠
- p.Thr306Ala Single submitter Inborn genetic diseases ⚠
- p.Thr37Ile Single submitter ⚠
- p.Trp274Leu Single submitter ⚠
- p.Trp311Cys Single submitter holoprosencephaly ⚠
- p.Trp311Ter Single submitter FOXH1-related disorder
- p.Val148Met Single submitter holoprosencephaly ⚠
- p.Val233fs Single submitter
- p.Val290Ile Single submitter holoprosencephaly ⚠
- p.Val345Ile Single submitter ⚠
- p.Val63Ala Single submitter ⚠
- p.Gly151Asp No assertion criteria ⚠