IRF6 — 393 ClinVar variants
All ClinVar germline IRF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
74 Pathogenic · 9 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 8 Conflicting · 63 Benign · 2 Benign/Likely benign · 33 Likely benign · 148 Uncertain significance
Full IRF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
IRF6 p.Val297Ile
Likely pathogenic
Multiple submitters
van der Woude syndrome 1
-
IRF6 p.Arg400Gln
Pathogenic
No assertion criteria
van der Woude syndrome 1
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IRF6 p.Arg45Gln
Conflicting
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Arg9Gln
Conflicting
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Asp354Asn
Conflicting
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Leu304Pro
Conflicting
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Val321Met
Conflicting
Single submitter
orofacial cleft 6, susceptibility to
Predictors lean, ClinVar uncertain 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
IRF6 p.Ala463Val
Uncertain significance
Multiple submitters
van der Woude syndrome 1
-
IRF6 p.Arg387Lys
Uncertain significance
Multiple submitters
IRF6-related condition
-
IRF6 p.Asn94Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IRF6 p.Gln467Arg
Uncertain significance
Multiple submitters
popliteal pterygium syndrome
- IRF6 p.Ile303Asn Uncertain significance Multiple submitters
-
IRF6 p.Lys109Asn
Uncertain significance
Multiple submitters
orofacial cleft 6, susceptibility to
-
IRF6 p.Phe351Leu
Uncertain significance
Multiple submitters
popliteal pterygium syndrome
-
IRF6 p.Ala16Val
Uncertain significance
Single submitter
van der Woude syndrome
- IRF6 p.Ala2Thr Uncertain significance Single submitter
-
IRF6 p.Ala81Asp
Uncertain significance
Single submitter
popliteal pterygium syndrome
- IRF6 p.Arg339Gly Uncertain significance Single submitter
-
IRF6 p.Arg441Cys
Uncertain significance
Single submitter
van der Woude syndrome 1
- IRF6 p.Asn335Lys Uncertain significance Single submitter
-
IRF6 p.Asn431Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Asp135Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Asp140Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Asp142Gly
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Asp145Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Asp145Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Cys249Arg
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Gln366Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Gln450His
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Gln453Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Glu136Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Glu149Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Glu189Lys
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Glu201Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Glu236Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Glu53Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Gly278Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- IRF6 p.Gly301Val Uncertain significance Single submitter
-
IRF6 p.Ile228Thr
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Ile311Thr
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Leu14Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Leu289Pro
Uncertain significance
Single submitter
van der Woude syndrome
- IRF6 p.Leu389Arg Uncertain significance Single submitter
-
IRF6 p.Leu389Pro
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Leu436Pro
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Leu87Pro
Uncertain significance
Single submitter
van der Woude syndrome
-
IRF6 p.Lys101Glu
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Met105Val
Uncertain significance
Single submitter
van der Woude syndrome 1
-
IRF6 p.Met200Val
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
- IRF6 p.Met96Ile Uncertain significance Single submitter
-
IRF6 p.Phe36Tyr
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Phe93Leu
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Pro126Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Pro12His
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Pro203Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Pro203Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Pro454Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Pro462Leu
Uncertain significance
Single submitter
autosomal dominant popliteal pterygium syndrome
-
IRF6 p.Ser153Leu
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Thr240Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Thr291Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Trp28Gly
Uncertain significance
Single submitter
popliteal pterygium syndrome
- IRF6 p.Tyr211Ser Uncertain significance Single submitter
-
IRF6 p.Tyr322Asn
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Tyr97Cys
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Val18Met
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Val269Ile
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Asn335Asp
Uncertain significance
No assertion criteria
IRF6-related condition
-
IRF6 p.Asn88Lys
Uncertain significance
No assertion criteria
IRF6-related condition
-
IRF6 p.Lys89Asn
Uncertain significance
No assertion criteria
IRF6-related condition
-
IRF6 p.Pro172Ser
Uncertain significance
No assertion criteria
orofacial cleft 10
-
IRF6 p.Tyr23Asp
Uncertain significance
No assertion criteria
IRF6-related condition
-
IRF6 p.Val392Gly
Uncertain significance
No assertion criteria
orofacial cleft 10
Predictors split 44
The independent predictors disagree with each other — read with care.
-
IRF6 p.Gln273His
Uncertain significance
Multiple submitters
orofacial cleft 6, susceptibility to
-
IRF6 p.Glu404Lys
Pathogenic/Likely pathogenic
Multiple submitters
popliteal pterygium syndrome
-
IRF6 p.Pro222Leu
Uncertain significance
Multiple submitters
orofacial cleft 6, susceptibility to
-
IRF6 p.Trp217Arg
Uncertain significance
Multiple submitters
popliteal pterygium syndrome
-
IRF6 p.Ala310Pro
Likely pathogenic
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Ala59Ser
Likely pathogenic
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Arg6Gly
Likely pathogenic
Single submitter
IRF6-related condition
- IRF6 p.Arg6Ser Likely pathogenic Single submitter
-
IRF6 p.Asp225Asn
Uncertain significance
Single submitter
van der Woude syndrome
-
IRF6 p.Cys347Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- IRF6 p.Cys347Tyr Uncertain significance Single submitter
-
IRF6 p.Glu196Gln
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Glu215Lys
Uncertain significance
Single submitter
IRF6-related condition
-
IRF6 p.Glu236Gly
Uncertain significance
Single submitter
van der Woude syndrome 1
-
IRF6 p.Gly127Arg
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Ile337Thr
Likely pathogenic
Single submitter
IRF6-related condition
-
IRF6 p.Ile423Ser
Pathogenic
Single submitter
popliteal pterygium syndrome
- IRF6 p.Ile56Val Uncertain significance Single submitter
-
IRF6 p.Leu316Pro
Pathogenic
Single submitter
orofacial cleft 1
-
IRF6 p.Leu336Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Leu352Arg
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Met105Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IRF6 p.Phe252Val
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Phe369Leu
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
- IRF6 p.Phe406Leu Uncertain significance Single submitter
-
IRF6 p.Ser220Phe
Likely pathogenic
Single submitter
van der Woude syndrome 1
- IRF6 p.Ser292Cys Uncertain significance Single submitter
-
IRF6 p.Ser416Asn
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Ser424Ala
Uncertain significance
Single submitter
orofacial cleft 6, susceptibility to
-
IRF6 p.Ser424Leu
Likely pathogenic
Single submitter
Inborn genetic diseases
-
IRF6 p.Thr100Ala
Pathogenic
Single submitter
van der Woude syndrome 1
-
IRF6 p.Thr100Ser
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Trp217Cys
Uncertain significance
Single submitter
van der Woude syndrome
-
IRF6 p.Tyr253Phe
Uncertain significance
Single submitter
van der Woude syndrome 1
-
IRF6 p.Val243Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- IRF6 p.Val243Met Likely benign Single submitter
-
IRF6 p.Val397Ala
Uncertain significance
Single submitter
popliteal pterygium syndrome
-
IRF6 p.Ala2Val
Pathogenic
No assertion criteria
van der Woude syndrome 1
-
IRF6 p.Arg91Ser
Uncertain significance
No assertion criteria
orofacial cleft 10
-
IRF6 p.Glu199Lys
Uncertain significance
No assertion criteria
orofacial cleft 10
-
IRF6 p.Glu53Gly
Likely pathogenic
No assertion criteria
van der Woude syndrome 1
-
IRF6 p.Gly21Asp
Uncertain significance
No assertion criteria
IRF6-related condition
-
IRF6 p.Leu439Pro
Pathogenic
No assertion criteria
popliteal pterygium syndrome
-
IRF6 p.Val103Ala
Uncertain significance
No assertion criteria
IRF6-related condition
All IRF6 variants
Pathogenic 74
- p.Arg250Ter Multiple submitters van der Woude syndrome 1
- p.Arg400Trp Multiple submitters IRF6-related condition
- p.Arg412Ter Multiple submitters van der Woude syndrome
- p.Arg6fs Multiple submitters Inborn genetic diseases
- p.Arg84His Multiple submitters popliteal pterygium syndrome
- p.Asn88Ser Multiple submitters van der Woude syndrome
- p.Leu87Phe Multiple submitters popliteal pterygium syndrome
- p.Pro76Ser Multiple submitters popliteal pterygium syndrome
- c.1061-1G>T Single submitter popliteal pterygium syndrome
- c.137_174+12del Single submitter van der Woude syndrome 1
- c.175-1G>A Single submitter
- c.668-1G>A Single submitter
- p.Ala399fs Single submitter van der Woude syndrome 1
- p.Ala59Val Single submitter popliteal pterygium syndrome
- p.Ala61Pro Single submitter orofacial cleft 6, susceptibility to
- p.Asp151fs Single submitter
- p.Asp19fs Single submitter orofacial cleft 6, susceptibility to
- p.Asp225fs Single submitter van der Woude syndrome
- p.Cys114_Asp115delinsTer Single submitter
- p.Cys186Ter Single submitter orofacial cleft 6, susceptibility to
- p.Gln118Ter Single submitter
- p.Gln160Ter Single submitter orofacial cleft 6, susceptibility to
- p.Gln208Ter Single submitter van der Woude syndrome
- p.Gln231Ter Single submitter van der Woude syndrome
- p.Gln318Ter Single submitter IRF6-related condition
- p.Gln438fs Single submitter orofacial cleft 6, susceptibility to
- p.Gln49Ter Single submitter orofacial cleft 6, susceptibility to
- p.Glu144Ter Single submitter popliteal pterygium syndrome
- p.Glu147fs Single submitter orofacial cleft 6, susceptibility to
- p.Glu349Ter Single submitter popliteal pterygium syndrome
- p.Glu377fs Single submitter
- p.Glu52Ter Single submitter
- p.Glu92Lys Single submitter popliteal pterygium syndrome
- p.Glu92Ter Single submitter popliteal pterygium syndrome
- p.Gly301fs Single submitter van der Woude syndrome
- p.Gly408fs Single submitter
- p.His358fs Single submitter orofacial cleft 6, susceptibility to
- p.Ile363fs Single submitter orofacial cleft 6, susceptibility to
- p.Ile38Thr Single submitter van der Woude syndrome 1
- p.Ile423Ser Single submitter popliteal pterygium syndrome ⚠
- p.Leu316Pro Single submitter orofacial cleft 1 ⚠
- p.Lys89Ter Single submitter
- p.Met1Lys Single submitter popliteal pterygium syndrome
- p.Phe163fs Single submitter orofacial cleft 6, susceptibility to
- p.Phe165fs Single submitter popliteal pterygium syndrome
- p.Phe266Ser Single submitter van der Woude syndrome 1
- p.Phe351Ser Single submitter popliteal pterygium syndrome
- p.Phe36fs Single submitter popliteal pterygium syndrome
- p.Pro12fs Single submitter
- p.Pro380Ser Single submitter orofacial cleft 6, susceptibility to
- p.Ser122Ter Single submitter orofacial cleft 6, susceptibility to
- p.Ser330Ter Single submitter orofacial cleft 6, susceptibility to
- p.Thr100Ala Single submitter van der Woude syndrome 1 ⚠
- p.Trp192Ter Single submitter van der Woude syndrome
- p.Trp217fs Single submitter van der Woude syndrome
- p.Trp40Cys Single submitter orofacial cleft 6, susceptibility to
- p.Trp40Ter Single submitter van der Woude syndrome
- p.Trp60Ter Single submitter orofacial cleft 6, susceptibility to
- p.Trp79Arg Single submitter popliteal pterygium syndrome
- p.Trp79Ter Single submitter van der Woude syndrome
- p.Tyr237Ter Single submitter
- p.Val108fs Single submitter popliteal pterygium syndrome
- c.668-2A>G No assertion criteria IRF6-related condition
- p.Ala2Val No assertion criteria van der Woude syndrome 1 ⚠
- p.Arg339Ile No assertion criteria van der Woude syndrome 1
- p.Arg400Gln No assertion criteria van der Woude syndrome 1 ⚠
- p.Arg84Leu No assertion criteria popliteal pterygium syndrome
- p.Asn125fs No assertion criteria van der Woude syndrome 1
- p.Leu22Pro No assertion criteria van der Woude syndrome 1
- p.Leu439Pro No assertion criteria popliteal pterygium syndrome ⚠
- p.Pro396Ser No assertion criteria van der Woude syndrome 1
- p.Thr240_Met241insTer No assertion criteria van der Woude syndrome 1
- p.Trp379Ter No assertion criteria van der Woude syndrome 1
- p.Tyr23Ter No assertion criteria IRF6-related condition
Pathogenic/Likely pathogenic 9
- c.1060+1G>A Multiple submitters Inborn genetic diseases
- p.Arg250Gln Multiple submitters van der Woude syndrome
- p.Arg45fs Multiple submitters IRF6-related condition
- p.Arg6Cys Multiple submitters popliteal pterygium syndrome
- p.Arg84Cys Multiple submitters IRF6-related condition
- p.Arg9Trp Multiple submitters popliteal pterygium syndrome
- p.Gln152Ter Multiple submitters IRF6-related condition
- p.Gln287Ter Multiple submitters van der Woude syndrome 1
- p.Glu404Lys Multiple submitters popliteal pterygium syndrome ⚠
Likely pathogenic 56
- p.Lys34Glu Multiple submitters van der Woude syndrome
- p.Val297Ile Multiple submitters van der Woude syndrome 1 ⚠
- c.1060+2T>C Single submitter orofacial cleft 6, susceptibility to
- c.509-1G>A Single submitter orofacial cleft 6, susceptibility to
- c.667+1G>A Single submitter IRF6-related condition
- c.-151G>A Single submitter orofacial cleft 6, susceptibility to
- c.-3-1G>T Single submitter IRF6-related condition
- p.Ala310Pro Single submitter popliteal pterygium syndrome ⚠
- p.Ala59Ser Single submitter popliteal pterygium syndrome ⚠
- p.Ala61Thr Single submitter
- p.Arg400Gly Single submitter IRF6-related condition
- p.Arg6Gly Single submitter IRF6-related condition ⚠
- p.Arg6Ser Single submitter ⚠
- p.Asn88His Single submitter
- p.Asp98His Single submitter van der Woude syndrome
- p.Cys317fs Single submitter van der Woude syndrome 1
- p.Cys317Tyr Single submitter orofacial cleft 6, susceptibility to
- p.Cys374Arg Single submitter IRF6-related condition
- p.Cys374Tyr Single submitter van der Woude syndrome
- p.Gln393Ter Single submitter popliteal pterygium syndrome
- p.Gln438Ter Single submitter
- p.Gln446fs Single submitter IRF6-related condition
- p.Gln68Ter Single submitter van der Woude syndrome 1
- p.Glu215fs Single submitter van der Woude syndrome 1
- p.Gly21Val Single submitter van der Woude syndrome
- p.Gly254Ala Single submitter van der Woude syndrome 1
- p.Gly254Arg Single submitter popliteal pterygium syndrome
- p.Gly65Glu Single submitter autosomal dominant popliteal pterygium syndrome
- p.Ile110Thr Single submitter popliteal pterygium syndrome
- p.Ile337Thr Single submitter IRF6-related condition ⚠
- p.Leu14fs Single submitter
- p.Leu29Arg Single submitter
- p.Lys34Thr Single submitter van der Woude syndrome
- p.Lys78Glu Single submitter orofacial cleft 6, susceptibility to
- p.Met1Thr Single submitter IRF6-related condition
- p.Phe276Ser Single submitter orofacial cleft 6, susceptibility to
- p.Phe290_Asp296delinsLeu Single submitter van der Woude syndrome 1
- p.Phe375Ser Single submitter IRF6-related condition
- p.Phe57Leu Single submitter van der Woude syndrome
- p.Pro24Leu Single submitter IRF6-related condition
- p.Pro39His Single submitter
- p.Ser220Phe Single submitter van der Woude syndrome 1 ⚠
- p.Ser424Leu Single submitter Inborn genetic diseases ⚠
- p.Ser90Gly Single submitter
- p.Ser90Thr Single submitter orofacial cleft 6, susceptibility to
- p.Thr64Ile Single submitter IRF6-related condition
- p.Trp60Cys Single submitter orofacial cleft 6, susceptibility to
- p.Tyr232Ter Single submitter van der Woude syndrome 1
- p.Tyr322Cys Single submitter van der Woude syndrome 1
- p.Val394Asp Single submitter orofacial cleft 6, susceptibility to
- p.Glu53Gly No assertion criteria van der Woude syndrome 1 ⚠
- p.Gly127fs No assertion criteria IRF6-related condition
- p.Gly325Trp No assertion criteria van der Woude syndrome 1
- p.Lys229fs No assertion criteria van der Woude syndrome
- p.Ser457fs No assertion criteria IRF6-related condition
- p.Tyr440Ter No assertion criteria IRF6-related condition
Conflicting classifications of pathogenicity 8
- p.Arg420His Single submitter orofacial cleft 6, susceptibility to
- p.Arg45Gln Single submitter popliteal pterygium syndrome ⚠
- p.Arg9Gln Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Asp296= Single submitter van der Woude syndrome 1
- p.Asp354Asn Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Leu304Pro Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Ser307= Single submitter van der Woude syndrome
- p.Val321Met Single submitter orofacial cleft 6, susceptibility to ⚠
Benign 63
- c.1060+37C>T Multiple submitters
- c.175-5C>G Multiple submitters autosomal dominant popliteal pterygium syndrome
- c.508+224G>A Multiple submitters
- c.508+316T>G Multiple submitters
- c.667+27C>G Multiple submitters autosomal dominant popliteal pterygium syndrome
- c.-73T>C Multiple submitters van der Woude syndrome 1
- c.-75-21dup Multiple submitters orofacial cleft 6, susceptibility to
- c.-75-4A>G Multiple submitters popliteal pterygium syndrome
- c.*1265G>C Multiple submitters orofacial cleft 6, susceptibility to
- c.*1329C>T Multiple submitters orofacial cleft 6, susceptibility to
- c.*1511C>T Multiple submitters van der Woude syndrome 1
- c.*1893C>T Multiple submitters van der Woude syndrome 1
- c.*2151C>A Multiple submitters orofacial cleft 6, susceptibility to
- c.*2597G>A Multiple submitters van der Woude syndrome 1
- c.*411C>T Multiple submitters orofacial cleft 6, susceptibility to
- c.*451A>G Multiple submitters orofacial cleft 6, susceptibility to
- c.*479T>G Multiple submitters van der Woude syndrome 1
- c.*742A>T Multiple submitters orofacial cleft 6, susceptibility to
- c.*840A>G Multiple submitters orofacial cleft 6, susceptibility to
- c.*843T>G Multiple submitters van der Woude syndrome 1
- p.Leu385= Multiple submitters van der Woude syndrome
- p.Ser153= Multiple submitters autosomal dominant popliteal pterygium syndrome
- p.Val274Ile Multiple submitters orofacial cleft 6, susceptibility to
- p.Val332Ile Multiple submitters popliteal pterygium syndrome
- c.1179+218C>T Single submitter
- c.1179+292CA[13] Single submitter
- c.1179+292CA[14] Single submitter
- c.1179+292CA[15] Single submitter
- c.1180-215T>A Single submitter
- c.174+36_174+37dup Single submitter
- c.174+36dup Single submitter
- c.174+56del Single submitter
- c.175-124GT[19] Single submitter
- c.175-124GT[20] Single submitter
- c.175-124GT[22] Single submitter
- c.175-124GT[23] Single submitter
- c.175-124GT[24] Single submitter
- c.175-124GT[26] Single submitter
- c.175-199G>C Single submitter
- c.380-155C>T Single submitter
- c.508+46G>T Single submitter
- c.509-41G>A Single submitter orofacial cleft 6, susceptibility to
- c.-4+33C>G Single submitter orofacial cleft 6, susceptibility to
- c.-44G>A Single submitter van der Woude syndrome 1
- c.*1246C>G Single submitter orofacial cleft 6, susceptibility to
- c.*1771A>G Single submitter orofacial cleft 6, susceptibility to
- c.*204C>T Single submitter orofacial cleft 6, susceptibility to
- c.*2122T>C Single submitter van der Woude syndrome 1
- c.*2472G>A Single submitter orofacial cleft 6, susceptibility to
- c.*279T>C Single submitter van der Woude syndrome 1
- c.*342A>C Single submitter van der Woude syndrome 1
- c.*353T>C Single submitter orofacial cleft 6, susceptibility to
- c.*558C>T Single submitter van der Woude syndrome 1
- c.*665C>A Single submitter van der Woude syndrome 1
- c.*965G>A Single submitter van der Woude syndrome 1
- p.Gly130= Single submitter van der Woude syndrome
- p.Pro117= Single submitter van der Woude syndrome
- p.Asp148Gly No assertion criteria orofacial cleft 10
- p.Gly121Val No assertion criteria orofacial cleft 10
- p.Leu391Phe No assertion criteria orofacial cleft 10
- p.Pro164Ala No assertion criteria orofacial cleft 10
- p.Ser153Ala No assertion criteria orofacial cleft 10
- p.Ser212Asn No assertion criteria orofacial cleft 10
Benign/Likely benign 2
Likely benign 33
- c.380-4G>A Multiple submitters popliteal pterygium syndrome
- p.Met259Ile Multiple submitters popliteal pterygium syndrome
- p.Tyr237= Multiple submitters orofacial cleft 6, susceptibility to
- c.1061-7T>C Single submitter orofacial cleft 6, susceptibility to
- c.1179+8G>A Single submitter
- c.174+53_174+56dup Single submitter
- c.174+54_174+56dup Single submitter
- c.175-9T>G Single submitter
- c.508+15T>G Single submitter popliteal pterygium syndrome
- c.667+14dup Single submitter
- c.668-19G>A Single submitter popliteal pterygium syndrome
- c.668-4G>T Single submitter popliteal pterygium syndrome
- c.-218G>A Single submitter IRF6-related condition
- c.*2414G>A Single submitter orofacial cleft 6, susceptibility to
- p.Ala174= Single submitter orofacial cleft 6, susceptibility to
- p.Asp98= Single submitter popliteal pterygium syndrome
- p.Gln340= Single submitter
- p.Gly408= Single submitter
- p.Leu198= Single submitter
- p.Leu391= Single submitter IRF6-related condition
- p.Leu439= Single submitter orofacial cleft 6, susceptibility to
- p.Lys429= Single submitter
- p.Lys437= Single submitter van der Woude syndrome
- p.Pro268= Single submitter van der Woude syndrome
- p.Pro367= Single submitter
- p.Pro466= Single submitter van der Woude syndrome
- p.Ser353= Single submitter orofacial cleft 6, susceptibility to
- p.Ser413= Single submitter popliteal pterygium syndrome
- p.Thr240= Single submitter
- p.Thr425= Single submitter popliteal pterygium syndrome
- p.Tyr440= Single submitter
- p.Val243Met Single submitter ⚠
- p.Pro24Ser No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 148
- p.Ala463Val Multiple submitters van der Woude syndrome 1 ⚠
- p.Arg387Lys Multiple submitters IRF6-related condition ⚠
- p.Asn94Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln273His Multiple submitters orofacial cleft 6, susceptibility to ⚠
- p.Gln467Arg Multiple submitters popliteal pterygium syndrome ⚠
- p.Ile303Asn Multiple submitters ⚠
- p.Leu336Arg Multiple submitters Inborn genetic diseases
- p.Lys109Asn Multiple submitters orofacial cleft 6, susceptibility to ⚠
- p.Phe351Leu Multiple submitters popliteal pterygium syndrome ⚠
- p.Pro222Leu Multiple submitters orofacial cleft 6, susceptibility to ⚠
- p.Trp217Arg Multiple submitters popliteal pterygium syndrome ⚠
- c.1061-10C>G Single submitter popliteal pterygium syndrome
- c.174+2dup Single submitter van der Woude syndrome
- c.174+3A>T Single submitter van der Woude syndrome 1
- c.379+3G>T Single submitter orofacial cleft 6, susceptibility to
- c.379+4_379+15del Single submitter van der Woude syndrome
- c.508+13G>A Single submitter van der Woude syndrome 1
- c.668-23_668-20del Single submitter orofacial cleft 6, susceptibility to
- c.668-5T>A Single submitter
- c.668-5T>G Single submitter orofacial cleft 6, susceptibility to
- c.668-8C>G Single submitter orofacial cleft 6, susceptibility to
- c.-3-11G>C Single submitter orofacial cleft 6, susceptibility to
- c.-48A>T Single submitter
- c.-75-15C>T Single submitter van der Woude syndrome 1
- c.-98T>C Single submitter orofacial cleft 6, susceptibility to
- c.*1123T>C Single submitter van der Woude syndrome 1
- c.*1172T>A Single submitter van der Woude syndrome 1
- c.*1276C>T Single submitter van der Woude syndrome 1
- c.*1473C>G Single submitter orofacial cleft 6, susceptibility to
- c.*1474C>T Single submitter van der Woude syndrome 1
- c.*1585C>T Single submitter orofacial cleft 6, susceptibility to
- c.*1700G>A Single submitter orofacial cleft 6, susceptibility to
- c.*1700G>C Single submitter van der Woude syndrome 1
- c.*1712T>C Single submitter van der Woude syndrome 1
- c.*1767G>A Single submitter orofacial cleft 6, susceptibility to
- c.*1844G>A Single submitter van der Woude syndrome 1
- c.*1870G>C Single submitter orofacial cleft 6, susceptibility to
- c.*1999T>C Single submitter orofacial cleft 6, susceptibility to
- c.*2002A>G Single submitter orofacial cleft 6, susceptibility to
- c.*2006T>C Single submitter orofacial cleft 6, susceptibility to
- c.*2064G>A Single submitter orofacial cleft 6, susceptibility to
- c.*2268C>T Single submitter orofacial cleft 6, susceptibility to
- c.*2344C>T Single submitter orofacial cleft 6, susceptibility to
- c.*2658A>C Single submitter orofacial cleft 6, susceptibility to
- c.*2795G>A Single submitter orofacial cleft 6, susceptibility to
- c.*477G>A Single submitter orofacial cleft 6, susceptibility to
- c.*515G>A Single submitter orofacial cleft 6, susceptibility to
- c.*575T>A Single submitter van der Woude syndrome 1
- c.*591T>G Single submitter orofacial cleft 6, susceptibility to
- c.*804C>G Single submitter orofacial cleft 6, susceptibility to
- c.*932A>G Single submitter van der Woude syndrome 1
- p.Ala16Val Single submitter van der Woude syndrome ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala328Thr Single submitter
- p.Ala463fs Single submitter popliteal pterygium syndrome
- p.Ala81Asp Single submitter popliteal pterygium syndrome ⚠
- p.Arg339Gly Single submitter ⚠
- p.Arg441Cys Single submitter van der Woude syndrome 1 ⚠
- p.Asn335Lys Single submitter ⚠
- p.Asn431Thr Single submitter Inborn genetic diseases ⚠
- p.Asp135Gly Single submitter Inborn genetic diseases ⚠
- p.Asp140Gly Single submitter Inborn genetic diseases ⚠
- p.Asp142Gly Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Asp145Asn Single submitter Inborn genetic diseases ⚠
- p.Asp145Glu Single submitter Inborn genetic diseases ⚠
- p.Asp225Asn Single submitter van der Woude syndrome ⚠
- p.Asp415Glu Single submitter
- p.Cys249Arg Single submitter popliteal pterygium syndrome ⚠
- p.Cys347Phe Single submitter Inborn genetic diseases ⚠
- p.Cys347Tyr Single submitter ⚠
- p.Gln273_Val274delinsHisIle Single submitter popliteal pterygium syndrome
- p.Gln366Glu Single submitter Inborn genetic diseases ⚠
- p.Gln450His Single submitter Inborn genetic diseases ⚠
- p.Gln453Pro Single submitter Inborn genetic diseases ⚠
- p.Glu136Lys Single submitter Inborn genetic diseases ⚠
- p.Glu149Lys Single submitter Inborn genetic diseases ⚠
- p.Glu189Lys Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Glu196Gln Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Glu201Gly Single submitter Inborn genetic diseases ⚠
- p.Glu215Lys Single submitter IRF6-related condition ⚠
- p.Glu236Ala Single submitter Inborn genetic diseases ⚠
- p.Glu236Gly Single submitter van der Woude syndrome 1 ⚠
- p.Glu53Asp Single submitter Inborn genetic diseases ⚠
- p.Gly127Arg Single submitter popliteal pterygium syndrome ⚠
- p.Gly278Ser Single submitter Inborn genetic diseases ⚠
- p.Gly301Val Single submitter ⚠
- p.Ile228Thr Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Ile311Thr Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Ile56Val Single submitter ⚠
- p.Leu14Arg Single submitter orofacial cleft 6, susceptibility to
- p.Leu14Met Single submitter Inborn genetic diseases ⚠
- p.Leu289Pro Single submitter van der Woude syndrome ⚠
- p.Leu336Met Single submitter Inborn genetic diseases ⚠
- p.Leu352Arg Single submitter popliteal pterygium syndrome ⚠
- p.Leu355= Single submitter orofacial cleft 6, susceptibility to
- p.Leu389Arg Single submitter ⚠
- p.Leu389Pro Single submitter popliteal pterygium syndrome ⚠
- p.Leu436Pro Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Leu439del Single submitter orofacial cleft 6, susceptibility to
- p.Leu87Pro Single submitter van der Woude syndrome ⚠
- p.Lys101Glu Single submitter popliteal pterygium syndrome ⚠
- p.Lys58= Single submitter orofacial cleft 6, susceptibility to
- p.Met105Thr Single submitter Inborn genetic diseases ⚠
- p.Met105Val Single submitter van der Woude syndrome 1 ⚠
- p.Met200Val Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Met96Ile Single submitter ⚠
- p.Phe252Val Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Phe369Leu Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Phe36Tyr Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Phe406Leu Single submitter ⚠
- p.Phe93Leu Single submitter popliteal pterygium syndrome ⚠
- p.Pro126Ser Single submitter Inborn genetic diseases ⚠
- p.Pro12His Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Pro203Ser Single submitter Inborn genetic diseases ⚠
- p.Pro203Thr Single submitter Inborn genetic diseases ⚠
- p.Pro454Ser Single submitter Inborn genetic diseases ⚠
- p.Pro462Leu Single submitter autosomal dominant popliteal pterygium syndrome ⚠
- p.Ser153Leu Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Ser187Arg Single submitter van der Woude syndrome
- p.Ser292Cys Single submitter ⚠
- p.Ser416Asn Single submitter popliteal pterygium syndrome ⚠
- p.Ser424Ala Single submitter orofacial cleft 6, susceptibility to ⚠
- p.Thr100Ser Single submitter popliteal pterygium syndrome ⚠
- p.Thr240Ser Single submitter Inborn genetic diseases ⚠
- p.Thr242= Single submitter orofacial cleft 6, susceptibility to
- p.Thr291Ala Single submitter Inborn genetic diseases ⚠
- p.Trp217Cys Single submitter van der Woude syndrome ⚠
- p.Trp28Gly Single submitter popliteal pterygium syndrome ⚠
- p.Tyr211Ser Single submitter ⚠
- p.Tyr253Phe Single submitter van der Woude syndrome 1 ⚠
- p.Tyr322Asn Single submitter popliteal pterygium syndrome ⚠
- p.Tyr67_Val71dup Single submitter van der Woude syndrome
- p.Tyr97Cys Single submitter popliteal pterygium syndrome ⚠
- p.Val18Met Single submitter popliteal pterygium syndrome ⚠
- p.Val243Leu Single submitter Inborn genetic diseases ⚠
- p.Val269Ile Single submitter popliteal pterygium syndrome ⚠
- p.Val397Ala Single submitter popliteal pterygium syndrome ⚠
- p.Arg91Ser No assertion criteria orofacial cleft 10 ⚠
- p.Asn335Asp No assertion criteria IRF6-related condition ⚠
- p.Asn88Lys No assertion criteria IRF6-related condition ⚠
- p.Asp381_Leu385delinsLys No assertion criteria IRF6-related condition
- p.Glu199Lys No assertion criteria orofacial cleft 10 ⚠
- p.Gly21Asp No assertion criteria IRF6-related condition ⚠
- p.Lys89Asn No assertion criteria IRF6-related condition ⚠
- p.Pro172Ser No assertion criteria orofacial cleft 10 ⚠
- p.Tyr23Asp No assertion criteria IRF6-related condition ⚠
- p.Val103Ala No assertion criteria IRF6-related condition ⚠
- p.Val392Gly No assertion criteria orofacial cleft 10 ⚠