IHH — 348 ClinVar variants
All ClinVar germline IHH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →
29 Pathogenic · 2 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 16 Conflicting · 17 Benign · 8 Benign/Likely benign · 62 Likely benign · 197 Uncertain significance
Full IHH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 169
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IHH p.Arg149His
Conflicting
Single submitter
brachydactyly type A1
-
IHH p.Arg289His
Conflicting
Single submitter
Inborn genetic diseases
-
IHH p.Gly408Arg
Conflicting
Single submitter
brachydactyly type A1
- IHH p.Lys92Gln Conflicting Single submitter
-
IHH p.Pro377Leu
Conflicting
Single submitter
brachydactyly type A1
-
IHH p.Val317Met
Conflicting
Single submitter
IHH-Related Disorders
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
IHH p.Gln263Ter
Conflicting
Single submitter
brachydactyly type A1A
- IHH p.Trp177Ter Conflicting Single submitter
Predictors lean, ClinVar uncertain 123
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IHH p.Ala216Val Uncertain significance Multiple submitters
-
IHH p.Ala270Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Ala274Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Ala288Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Ala349Val
Uncertain significance
Multiple submitters
IHH-related disorder
-
IHH p.Ala48Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Arg110Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Arg211His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Arg217His Uncertain significance Multiple submitters
-
IHH p.Arg224Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Arg267Gly
Uncertain significance
Multiple submitters
brachydactyly type A1
-
IHH p.Arg268His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Arg291Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Arg316Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Arg390His
Uncertain significance
Multiple submitters
brachydactyly type A1
-
IHH p.Asn161Ser
Uncertain significance
Multiple submitters
brachydactyly type A1
-
IHH p.Asp235Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Asp242Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Asp264Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Gln313Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Glu398Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Gly207Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Gly215Arg Uncertain significance Multiple submitters
- IHH p.Leu111Pro Uncertain significance Multiple submitters
-
IHH p.Leu20Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Lys43Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Met103Arg Uncertain significance Multiple submitters
-
IHH p.Thr293Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Tyr384Cys Uncertain significance Multiple submitters
-
IHH p.Val190Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Val309Met Uncertain significance Multiple submitters
-
IHH p.Val324Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Ala150Val Uncertain significance Single submitter
- IHH p.Ala170Val Uncertain significance Single submitter
-
IHH p.Ala173Asp
Uncertain significance
Single submitter
acrocapitofemoral dysplasia
-
IHH p.Ala184Thr
Uncertain significance
Single submitter
brachydactyly type A1
- IHH p.Ala216Thr Uncertain significance Single submitter
- IHH p.Ala256Thr Uncertain significance Single submitter
- IHH p.Ala350Val Uncertain significance Single submitter
- IHH p.Ala409Glu Uncertain significance Single submitter
-
IHH p.Ala409Val
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Ala4Asp Uncertain significance Single submitter
-
IHH p.Ala72Val
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Arg101Gly Uncertain significance Single submitter
- IHH p.Arg101Leu Uncertain significance Single submitter
- IHH p.Arg101Ser Uncertain significance Single submitter
-
IHH p.Arg106Ser
Uncertain significance
Single submitter
brachydactyly type A1
-
IHH p.Arg128Trp
Uncertain significance
Single submitter
brachydactyly
- IHH p.Arg168Pro Uncertain significance Single submitter
- IHH p.Arg268Pro Uncertain significance Single submitter
- IHH p.Arg316Cys Uncertain significance Single submitter
- IHH p.Arg316His Uncertain significance Single submitter
- IHH p.Arg316Leu Uncertain significance Single submitter
- IHH p.Arg32Gln Uncertain significance Single submitter
- IHH p.Arg365Lys Uncertain significance Single submitter
-
IHH p.Arg393Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IHH p.Arg73Cys
Uncertain significance
Single submitter
acrocapitofemoral dysplasia
- IHH p.Arg7Gln Uncertain significance Single submitter
- IHH p.Asn84Asp Uncertain significance Single submitter
- IHH p.Asn96Ile Uncertain significance Single submitter
- IHH p.Asp100His Uncertain significance Single submitter
- IHH p.Asp134Glu Uncertain significance Single submitter
- IHH p.Cys347Arg Uncertain significance Single submitter
- IHH p.Gln313Lys Uncertain significance Single submitter
-
IHH p.Gln386His
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Glu147Lys Uncertain significance Single submitter
- IHH p.Glu181Lys Uncertain significance Single submitter
- IHH p.Glu213Ala Uncertain significance Single submitter
-
IHH p.Glu341Lys
Uncertain significance
Single submitter
acrocapitofemoral dysplasia
- IHH p.Glu94Gly Uncertain significance Single submitter
- IHH p.Glu94Lys Uncertain significance Single submitter
- IHH p.Gly124Arg Uncertain significance Single submitter
-
IHH p.Gly201Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Gly202Cys Uncertain significance Single submitter
- IHH p.Gly202Ser Uncertain significance Single submitter
-
IHH p.Gly233Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Gly301Val Uncertain significance Single submitter
- IHH p.Gly31Cys Uncertain significance Single submitter
- IHH p.Gly35Asp Uncertain significance Single submitter
- IHH p.Gly373Asp Uncertain significance Single submitter
- IHH p.Gly378Glu Uncertain significance Single submitter
-
IHH p.Gly405Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.His11Asn Uncertain significance Single submitter
- IHH p.His185Arg Uncertain significance Single submitter
- IHH p.His323Gln Uncertain significance Single submitter
-
IHH p.Ile89Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Leu166Met Uncertain significance Single submitter
- IHH p.Leu212Pro Uncertain significance Single submitter
- IHH p.Leu230Arg Uncertain significance Single submitter
- IHH p.Leu271Phe Uncertain significance Single submitter
- IHH p.Leu338Val Uncertain significance Single submitter
- IHH p.Lys162Arg Uncertain significance Single submitter
- IHH p.Lys162Asn Uncertain significance Single submitter
- IHH p.Met406Lys Uncertain significance Single submitter
- IHH p.Phe278Ser Uncertain significance Single submitter
- IHH p.Phe91Leu Uncertain significance Single submitter
- IHH p.Pro310Ser Uncertain significance Single submitter
-
IHH p.Pro314Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IHH p.Pro363Leu
Uncertain significance
Single submitter
brachydactyly type A1
- IHH p.Pro41Ser Uncertain significance Single submitter
- IHH p.Pro54Ser Uncertain significance Single submitter
- IHH p.Ser117Pro Uncertain significance Single submitter
-
IHH p.Ser143Pro
Uncertain significance
Single submitter
IHH-related disorder
- IHH p.Ser143Tyr Uncertain significance Single submitter
- IHH p.Ser195Leu Uncertain significance Single submitter
- IHH p.Ser214Asn Uncertain significance Single submitter
- IHH p.Thr272Lys Uncertain significance Single submitter
-
IHH p.Thr376Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IHH p.Thr376Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IHH p.Thr376Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IHH p.Trp122Cys
Uncertain significance
Single submitter
Short stature
- IHH p.Trp133Cys Uncertain significance Single submitter
- IHH p.Tyr67Cys Uncertain significance Single submitter
- IHH p.Val171Ala Uncertain significance Single submitter
- IHH p.Val178Met Uncertain significance Single submitter
- IHH p.Val186Glu Uncertain significance Single submitter
- IHH p.Val21Leu Uncertain significance Single submitter
- IHH p.Val298Gly Uncertain significance Single submitter
- IHH p.Val304Met Uncertain significance Single submitter
-
IHH p.Val320Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IHH p.Val324Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IHH p.Gly29Trp
Uncertain significance
No assertion criteria
IHH-related disorder
- IHH p.Leu277Phe Uncertain significance No assertion criteria
Predictors split 38
The independent predictors disagree with each other — read with care.
-
IHH p.Ala349Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Arg211Cys Uncertain significance Multiple submitters
-
IHH p.Arg217Cys
Uncertain significance
Multiple submitters
brachydactyly type A1
- IHH p.Arg228His Uncertain significance Multiple submitters
-
IHH p.Arg267Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Arg268Cys Uncertain significance Multiple submitters
-
IHH p.Gly380Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IHH p.Pro30Leu Uncertain significance Multiple submitters
-
IHH p.Pro331Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IHH p.Thr284Met
Uncertain significance
Multiple submitters
acrocapitofemoral dysplasia
-
IHH p.Val304Leu
Uncertain significance
Multiple submitters
brachydactyly type A1
- IHH p.Ala231Val Uncertain significance Single submitter
-
IHH p.Ala274Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IHH p.Ala99Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Ala99Val Uncertain significance Single submitter
- IHH p.Arg249His Uncertain significance Single submitter
- IHH p.Arg289Cys Uncertain significance Single submitter
- IHH p.Arg291Trp Uncertain significance Single submitter
- IHH p.Arg390Cys Uncertain significance Single submitter
- IHH p.Arg390Leu Uncertain significance Single submitter
- IHH p.Asn55Ser Uncertain significance Single submitter
- IHH p.Asp109Glu Uncertain significance Single submitter
-
IHH p.Asp235Val
Uncertain significance
Single submitter
brachydactyly type A1
- IHH p.Asp264Val Uncertain significance Single submitter
- IHH p.Gln105Arg Uncertain significance Single submitter
- IHH p.Glu250Lys Uncertain significance Single submitter
-
IHH p.Glu76Ala
Conflicting
Single submitter
Inborn genetic diseases
- IHH p.Gly308Val Uncertain significance Single submitter
-
IHH p.Phe257Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Phe361Leu Uncertain significance Single submitter
-
IHH p.Phe401Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- IHH p.Pro225Leu Uncertain significance Single submitter
-
IHH p.Pro286Leu
Conflicting
Single submitter
brachydactyly type A1
-
IHH p.Pro30Thr
Uncertain significance
Single submitter
acrocapitofemoral dysplasia
- IHH p.Thr200Met Uncertain significance Single submitter
- IHH p.Thr279Met Uncertain significance Single submitter
- IHH p.Val351Met Conflicting Single submitter
-
IHH p.Val306Leu
Uncertain significance
No assertion criteria
IHH-related disorder
All IHH variants
Pathogenic 29
- p.Asp100Asn Multiple submitters IHH-Related Disorders
- p.Ala99fs Single submitter
- p.Arg160Cys Single submitter brachydactyly type A1
- p.Arg267fs Single submitter brachydactyly type A1
- p.Arg73fs Single submitter
- p.Asp176fs Single submitter
- p.Gln313fs Single submitter
- p.Glu58Lys Single submitter brachydactyly type A1
- p.Glu58Ter Single submitter
- p.Glu95Lys Single submitter brachydactyly type A1
- p.His139fs Single submitter brachydactyly type A1A
- p.His145fs Single submitter
- p.Met1Arg Single submitter
- p.Met1Lys Single submitter
- p.Met1Thr Single submitter
- p.Ser36fs Single submitter
- p.Thr239fs Single submitter
- p.Trp133Ter Single submitter
- p.Trp26Ter Single submitter
- p.Tyr180Ter Single submitter
- p.Val190Ala Single submitter acrocapitofemoral dysplasia
- p.Asp100Glu No assertion criteria brachydactyly type A1
- p.Cys107fs No assertion criteria brachydactyly type A1
- p.Glu181fs No assertion criteria brachydactyly type A1
- p.Glu95Gly No assertion criteria brachydactyly type A1
- p.Pro46Leu No assertion criteria acrocapitofemoral dysplasia
- p.Thr130Asn No assertion criteria brachydactyly type A1
- p.Thr154Ile No assertion criteria brachydactyly type A1
- p.Val178Leu No assertion criteria brachydactyly type A1
Pathogenic/Likely pathogenic 2
- p.Arg158Cys Multiple submitters
- p.Glu95del Multiple submitters brachydactyly type A1
Likely pathogenic 17
- p.Met1Val Multiple submitters acrocapitofemoral dysplasia
- c.315+1_315+3del Single submitter
- c.316-1G>A Single submitter
- p.Ala150Thr Single submitter brachydactyly type A1
- p.Arg128Gln Single submitter brachydactyly type A1
- p.Arg160Ser Single submitter brachydactyly type A1
- p.Arg77fs Single submitter IHH-Related Disorders
- p.Gln51Lys Single submitter brachydactyly type A1
- p.Glu131Lys Single submitter brachydactyly type A1
- p.Gly148Asp Single submitter brachydactyly type A1
- p.Lys162Glu Single submitter brachydactyly type A1
- p.Lys162Thr Single submitter brachydactyly type A1
- p.Ser140Ter Single submitter brachydactyly type A1
- p.Ser189dup Single submitter brachydactyly type A1
- p.Val125fs Single submitter IHH-Related Disorders
- p.Val340Met Single submitter acromesomelic dysplasia 1, Maroteaux type
- p.Val118Met No assertion criteria acrocapitofemoral dysplasia
Conflicting classifications of pathogenicity 16
- c.577+3G>A Single submitter
- p.Ala231= Single submitter brachydactyly type A1
- p.Arg149His Single submitter brachydactyly type A1 ⚠
- p.Arg289His Single submitter Inborn genetic diseases ⚠
- p.Arg77Ser Single submitter
- p.Gln263Ter Single submitter brachydactyly type A1A ⚠
- p.Glu76Ala Single submitter Inborn genetic diseases ⚠
- p.Gly408Arg Single submitter brachydactyly type A1 ⚠
- p.Lys92Gln Single submitter ⚠
- p.Pro286Leu Single submitter brachydactyly type A1 ⚠
- p.Pro377Leu Single submitter brachydactyly type A1 ⚠
- p.Thr279= Single submitter
- p.Trp177Ter Single submitter ⚠
- p.Tyr180= Single submitter brachydactyly type A1
- p.Val317Met Single submitter IHH-Related Disorders ⚠
- p.Val351Met Single submitter ⚠
Benign 17
- c.577+99G>T Multiple submitters
- c.*175C>G Multiple submitters brachydactyly type A1
- c.*25G>T Multiple submitters brachydactyly type A1
- c.*83A>T Multiple submitters brachydactyly type A1
- p.Ala206= Multiple submitters brachydactyly type A1
- p.His323= Multiple submitters brachydactyly type A1
- p.Pro251= Multiple submitters acrocapitofemoral dysplasia
- p.Thr376= Multiple submitters acrocapitofemoral dysplasia
- c.316-153G>T Single submitter
- c.316-226T>C Single submitter
- c.577+81dup Single submitter
- c.578-235G>A Single submitter
- c.*13G>A Single submitter brachydactyly type A1
- c.*248C>A Single submitter brachydactyly type A1
- c.*785C>T Single submitter brachydactyly type A1
- p.Thr272= Single submitter brachydactyly type A1
- p.Tyr303= Single submitter brachydactyly type A1
Benign/Likely benign 8
- c.315+8C>T Multiple submitters brachydactyly type A1
- p.Ala196= Multiple submitters brachydactyly type A1
- p.Arg291= Multiple submitters brachydactyly type A1
- p.Glu76= Multiple submitters brachydactyly type A1
- p.His252Arg Multiple submitters brachydactyly type A1
- p.Pro273= Multiple submitters brachydactyly type A1A
- p.Thr200= Multiple submitters acrocapitofemoral dysplasia
- p.Thr239= Multiple submitters brachydactyly type A1
Likely benign 62
- c.315+17C>T Multiple submitters
- c.-58C>T Multiple submitters
- c.-81C>A Multiple submitters
- p.Glu234= Multiple submitters brachydactyly type A1
- p.Ile260= Multiple submitters
- p.Leu312= Multiple submitters
- p.Ser407= Multiple submitters brachydactyly type A1
- c.315+17C>G Single submitter
- c.315+7G>A Single submitter
- c.316-8T>C Single submitter
- c.577+10C>G Single submitter
- c.577+13C>T Single submitter
- c.577+14G>T Single submitter
- c.577+15G>C Single submitter
- c.577+19G>A Single submitter
- c.577+20C>T Single submitter
- c.577+8G>A Single submitter
- c.-251C>A Single submitter
- p.Ala173= Single submitter
- p.Ala216= Single submitter
- p.Ala219= Single submitter
- p.Ala222= Single submitter
- p.Ala292= Single submitter
- p.Ala360= Single submitter
- p.Arg217= Single submitter
- p.Arg249= Single submitter
- p.Arg316= Single submitter
- p.Arg393His Single submitter Inborn genetic diseases
- p.Arg42= Single submitter
- p.Asn120= Single submitter
- p.Asp136= Single submitter
- p.Asp264= Single submitter
- p.Cys28= Single submitter
- p.Gln358= Single submitter
- p.Gly148= Single submitter
- p.Gly201= Single submitter
- p.Gly215= Single submitter
- p.Gly311= Single submitter
- p.Gly35= Single submitter
- p.His297= Single submitter
- p.Ile153= Single submitter
- p.Ile71= Single submitter
- p.Leu305= Single submitter
- p.Leu326= Single submitter
- p.Leu366= Single submitter
- p.Leu394= Single submitter
- p.Pro225= Single submitter
- p.Pro286= Single submitter
- p.Pro331= Single submitter
- p.Pro377= Single submitter
- p.Pro8= Single submitter
- p.Ser117= Single submitter
- p.Ser195= Single submitter
- p.Ser321= Single submitter
- p.Ser346= Single submitter
- p.Ser75= Single submitter
- p.Thr337= Single submitter
- p.Tyr146= Single submitter
- p.Tyr329= Single submitter
- p.Val229= Single submitter
- p.Val344= Single submitter
- p.Arg9= No assertion criteria IHH-related disorder
Uncertain significance 197
- c.-5del Multiple submitters
- c.*423G>A Multiple submitters brachydactyly type A1
- p.Ala216Val Multiple submitters ⚠
- p.Ala270Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala274Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala288Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala328fs Multiple submitters
- p.Ala349Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala349Val Multiple submitters IHH-related disorder ⚠
- p.Ala48Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg110Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg211Cys Multiple submitters ⚠
- p.Arg211His Multiple submitters Inborn genetic diseases ⚠
- p.Arg217Cys Multiple submitters brachydactyly type A1 ⚠
- p.Arg217His Multiple submitters ⚠
- p.Arg224Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg228His Multiple submitters ⚠
- p.Arg267Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg267Gly Multiple submitters brachydactyly type A1 ⚠
- p.Arg268Cys Multiple submitters ⚠
- p.Arg268His Multiple submitters Inborn genetic diseases ⚠
- p.Arg291Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg316Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg390His Multiple submitters brachydactyly type A1 ⚠
- p.Asn161Ser Multiple submitters brachydactyly type A1 ⚠
- p.Asp235Ala Multiple submitters Inborn genetic diseases ⚠
- p.Asp242Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp264Glu Multiple submitters Inborn genetic diseases ⚠
- p.Cys13Arg Multiple submitters IHH-related disorder
- p.Gln313Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu398Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly207Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly215Arg Multiple submitters ⚠
- p.Gly380Asp Multiple submitters Inborn genetic diseases ⚠
- p.Leu111Pro Multiple submitters ⚠
- p.Leu20Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys43Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met103Arg Multiple submitters ⚠
- p.Pro30Leu Multiple submitters ⚠
- p.Pro331Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr284Met Multiple submitters acrocapitofemoral dysplasia ⚠
- p.Thr293Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr384Cys Multiple submitters ⚠
- p.Val190Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val223Met Multiple submitters
- p.Val304Leu Multiple submitters brachydactyly type A1 ⚠
- p.Val309Met Multiple submitters ⚠
- p.Val324Met Multiple submitters Inborn genetic diseases ⚠
- c.577+14G>C Single submitter brachydactyly type A1
- c.577+2T>C Single submitter
- c.-14C>T Single submitter brachydactyly type A1
- c.-18C>T Single submitter brachydactyly type A1
- c.*199G>A Single submitter brachydactyly type A1
- c.*217G>A Single submitter brachydactyly type A1
- c.*246G>C Single submitter brachydactyly type A1
- c.*267A>T Single submitter brachydactyly type A1
- c.*300T>C Single submitter brachydactyly type A1
- c.*313C>T Single submitter brachydactyly type A1
- c.*33G>A Single submitter brachydactyly type A1
- c.*368G>A Single submitter brachydactyly type A1
- c.*397G>A Single submitter brachydactyly type A1
- c.*596G>A Single submitter brachydactyly type A1
- p.Ala150Val Single submitter ⚠
- p.Ala170Val Single submitter ⚠
- p.Ala173Asp Single submitter acrocapitofemoral dysplasia ⚠
- p.Ala184Thr Single submitter brachydactyly type A1 ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala231Val Single submitter ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala274Val Single submitter Inborn genetic diseases ⚠
- p.Ala350Val Single submitter ⚠
- p.Ala409Glu Single submitter ⚠
- p.Ala409Val Single submitter Inborn genetic diseases ⚠
- p.Ala4Asp Single submitter ⚠
- p.Ala72Val Single submitter Inborn genetic diseases ⚠
- p.Ala99Ser Single submitter Inborn genetic diseases ⚠
- p.Ala99Val Single submitter ⚠
- p.Arg101Gly Single submitter ⚠
- p.Arg101Leu Single submitter ⚠
- p.Arg101Ser Single submitter ⚠
- p.Arg106Ser Single submitter brachydactyly type A1 ⚠
- p.Arg128Trp Single submitter brachydactyly ⚠
- p.Arg168Pro Single submitter ⚠
- p.Arg249His Single submitter ⚠
- p.Arg267Ser Single submitter brachydactyly type A1
- p.Arg268Pro Single submitter ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg291Trp Single submitter ⚠
- p.Arg316Cys Single submitter ⚠
- p.Arg316His Single submitter ⚠
- p.Arg316Leu Single submitter ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg365Lys Single submitter ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg390Leu Single submitter ⚠
- p.Arg393Gly Single submitter Inborn genetic diseases ⚠
- p.Arg73Cys Single submitter acrocapitofemoral dysplasia ⚠
- p.Arg7Gln Single submitter ⚠
- p.Asn55Ser Single submitter ⚠
- p.Asn84Asp Single submitter ⚠
- p.Asn96Ile Single submitter ⚠
- p.Asp100His Single submitter ⚠
- p.Asp109Glu Single submitter ⚠
- p.Asp134Glu Single submitter ⚠
- p.Asp235Val Single submitter brachydactyly type A1 ⚠
- p.Asp264Val Single submitter ⚠
- p.Cys347Arg Single submitter ⚠
- p.Gln105Arg Single submitter ⚠
- p.Gln313Lys Single submitter ⚠
- p.Gln386His Single submitter Inborn genetic diseases ⚠
- p.Glu147Lys Single submitter ⚠
- p.Glu181_His185del Single submitter
- p.Glu181Lys Single submitter ⚠
- p.Glu213Ala Single submitter ⚠
- p.Glu250Lys Single submitter ⚠
- p.Glu341Lys Single submitter acrocapitofemoral dysplasia ⚠
- p.Glu94Gly Single submitter ⚠
- p.Glu94Lys Single submitter ⚠
- p.Gly124Arg Single submitter ⚠
- p.Gly137_His139del Single submitter
- p.Gly201Asp Single submitter Inborn genetic diseases ⚠
- p.Gly202Cys Single submitter ⚠
- p.Gly202Ser Single submitter ⚠
- p.Gly233Arg Single submitter Inborn genetic diseases ⚠
- p.Gly301Val Single submitter ⚠
- p.Gly308Val Single submitter ⚠
- p.Gly31Cys Single submitter ⚠
- p.Gly35Asp Single submitter ⚠
- p.Gly373Asp Single submitter ⚠
- p.Gly378Glu Single submitter ⚠
- p.Gly405Ser Single submitter Inborn genetic diseases ⚠
- p.Gly69= Single submitter
- p.His11Asn Single submitter ⚠
- p.His185Arg Single submitter ⚠
- p.His283= Single submitter brachydactyly type A1
- p.His323Gln Single submitter ⚠
- p.Ile89Thr Single submitter Inborn genetic diseases ⚠
- p.Leu166Met Single submitter ⚠
- p.Leu169_Lys183del Single submitter
- p.Leu212Pro Single submitter ⚠
- p.Leu230Arg Single submitter ⚠
- p.Leu271Phe Single submitter ⚠
- p.Leu338Val Single submitter ⚠
- p.Leu364fs Single submitter
- p.Lys162Arg Single submitter ⚠
- p.Lys162Asn Single submitter ⚠
- p.Met1Leu Single submitter
- p.Met232Thr Single submitter
- p.Met406Lys Single submitter ⚠
- p.Phe257Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe278Ser Single submitter ⚠
- p.Phe361Leu Single submitter ⚠
- p.Phe367= Single submitter brachydactyly type A1
- p.Phe401Leu Single submitter Inborn genetic diseases ⚠
- p.Phe91Leu Single submitter ⚠
- p.Pro123= Single submitter brachydactyly type A1
- p.Pro225Leu Single submitter ⚠
- p.Pro30Thr Single submitter acrocapitofemoral dysplasia ⚠
- p.Pro310Ser Single submitter ⚠
- p.Pro314Leu Single submitter Inborn genetic diseases ⚠
- p.Pro363Leu Single submitter brachydactyly type A1 ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro54Ser Single submitter ⚠
- p.Ser117Pro Single submitter ⚠
- p.Ser140Leu Single submitter
- p.Ser143Pro Single submitter IHH-related disorder ⚠
- p.Ser143Tyr Single submitter ⚠
- p.Ser182_Lys183insLeu Single submitter
- p.Ser189= Single submitter brachydactyly type A1
- p.Ser195Leu Single submitter ⚠
- p.Ser214Asn Single submitter ⚠
- p.Thr155del Single submitter brachydactyly type A1
- p.Thr200Met Single submitter ⚠
- p.Thr272Lys Single submitter ⚠
- p.Thr279Met Single submitter ⚠
- p.Thr376Ala Single submitter Inborn genetic diseases ⚠
- p.Thr376Asn Single submitter Inborn genetic diseases ⚠
- p.Thr376Ile Single submitter Inborn genetic diseases ⚠
- p.Thr97= Single submitter brachydactyly type A1
- p.Trp122Cys Single submitter Short stature ⚠
- p.Trp133Cys Single submitter ⚠
- p.Trp375Ter Single submitter Inborn genetic diseases
- p.Tyr180delinsLeuThrGlyTrpLeuTer Single submitter
- p.Tyr67Cys Single submitter ⚠
- p.Val171Ala Single submitter ⚠
- p.Val178Met Single submitter ⚠
- p.Val186Glu Single submitter ⚠
- p.Val21Leu Single submitter ⚠
- p.Val298Gly Single submitter ⚠
- p.Val304Met Single submitter ⚠
- p.Val320Ile Single submitter Inborn genetic diseases ⚠
- p.Val324Ala Single submitter Inborn genetic diseases ⚠
- p.Val45Gly Single submitter
- p.Gly29Trp No assertion criteria IHH-related disorder ⚠
- p.Leu18_Trp26delinsArgAla No assertion criteria acrocapitofemoral dysplasia
- p.Leu277Phe No assertion criteria ⚠
- p.Val306Leu No assertion criteria IHH-related disorder ⚠