ERF — 291 ClinVar variants
All ClinVar germline ERF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →
27 Pathogenic · 8 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 8 Conflicting · 14 Benign · 4 Benign/Likely benign · 51 Likely benign · 157 Uncertain significance
Full ERF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 156
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.
-
ERF p.Arg65Gln
Conflicting
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Arg83Gln
Conflicting
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Arg83Trp
Conflicting
Single submitter
Lambdoidal craniosynostosis
-
ERF p.Leu275Pro
Conflicting
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Met353Val
Conflicting
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Pro351Leu
Conflicting
Single submitter
TWIST1-related craniosynostosis
Predicted LoF vs a conflicting call 1
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.
-
ERF c.22+2T>G
Conflicting
Single submitter
Lambdoidal craniosynostosis
Predictors lean, ClinVar uncertain 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ERF p.Ala462Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERF p.Arg312Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERF p.Arg86His
Uncertain significance
Multiple submitters
TWIST1-related craniosynostosis
-
ERF p.Lys401Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERF p.Met76Thr
Uncertain significance
Multiple submitters
TWIST1-related craniosynostosis
-
ERF p.Ala178Pro
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
- ERF p.Ala316Asp Uncertain significance Single submitter
-
ERF p.Ala354Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Ala397Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Ala521Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Arg101Trp Uncertain significance Single submitter
-
ERF p.Arg143His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Arg183Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Arg207Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Arg233Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Arg25Lys Uncertain significance Single submitter
-
ERF p.Arg344Gly
Uncertain significance
Single submitter
Lambdoidal craniosynostosis
-
ERF p.Arg38Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Arg487Cys Uncertain significance Single submitter
-
ERF p.Arg493Cys
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Arg528Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Arg529Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Arg546Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Arg65Trp Uncertain significance Single submitter
-
ERF p.Arg70Cys
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
- ERF p.Asn107Ser Uncertain significance Single submitter
- ERF p.Asp491Gly Uncertain significance Single submitter
- ERF p.Cys165Phe Uncertain significance Single submitter
- ERF p.Gln28His Uncertain significance Single submitter
- ERF p.Gln343His Uncertain significance Single submitter
- ERF p.Glu356Lys Uncertain significance Single submitter
-
ERF p.Glu446Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Gly451Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Gly473Arg Uncertain significance Single submitter
-
ERF p.Gly499Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Gly499Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Gly522Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Gly68Ser Uncertain significance Single submitter
-
ERF p.Ile119Leu
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Ile430Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Ile46Thr
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
- ERF p.Ile93Val Uncertain significance Single submitter
- ERF p.Leu214Pro Uncertain significance Single submitter
- ERF p.Leu29Pro Uncertain significance Single submitter
-
ERF p.Leu350Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Leu37Val Uncertain significance Single submitter
-
ERF p.Leu94Pro
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
- ERF p.Lys110Glu Uncertain significance Single submitter
- ERF p.Lys481Arg Uncertain significance Single submitter
- ERF p.Lys71Asn Uncertain significance Single submitter
-
ERF p.Lys71Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Lys80Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Met270Ile
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
- ERF p.Met478Val Uncertain significance Single submitter
-
ERF p.Met76Ile
Uncertain significance
Single submitter
plasma cell myeloma
-
ERF p.Met76Lys
Uncertain significance
Single submitter
Lambdoidal craniosynostosis
-
ERF p.Met76Val
Uncertain significance
Single submitter
Lambdoidal craniosynostosis
- ERF p.Phe32Leu Uncertain significance Single submitter
- ERF p.Phe55Leu Uncertain significance Single submitter
- ERF p.Pro117Ala Uncertain significance Single submitter
-
ERF p.Pro12Leu
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Pro199Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Pro209Arg Uncertain significance Single submitter
-
ERF p.Pro211Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Pro212Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Pro221Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Pro221Leu Uncertain significance Single submitter
- ERF p.Pro236Ser Uncertain significance Single submitter
- ERF p.Pro244Leu Uncertain significance Single submitter
- ERF p.Pro247Thr Uncertain significance Single submitter
- ERF p.Pro288Ser Uncertain significance Single submitter
-
ERF p.Pro294Leu
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Pro294Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Pro351Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Pro355Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Pro464Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Pro472Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Pro74Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Ser137Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Ser297Ala
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Thr97Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Trp14Gly
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Trp67Gly
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
- ERF p.Val234Ile Uncertain significance Single submitter
-
ERF p.Val250Leu
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Val321Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Lys512Arg
Uncertain significance
No assertion criteria
ERF-related disorder
-
ERF p.Pro285Leu
Uncertain significance
No assertion criteria
Lambdoidal craniosynostosis
Predictors split 61
The independent predictors disagree with each other — read with care.
-
ERF p.Ala415Val
Benign/Likely benign
Multiple submitters
TWIST1-related craniosynostosis
-
ERF p.Arg179His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERF p.Arg180Cys
Uncertain significance
Multiple submitters
Lambdoidal craniosynostosis
-
ERF p.Arg458Gly
Uncertain significance
Multiple submitters
TWIST1-related craniosynostosis
-
ERF p.Arg493His
Uncertain significance
Multiple submitters
TWIST1-related craniosynostosis
-
ERF p.Leu172Phe
Benign/Likely benign
Multiple submitters
TWIST1-related craniosynostosis
-
ERF p.Pro133Leu
Uncertain significance
Multiple submitters
TWIST1-related craniosynostosis
-
ERF p.Pro421Leu
Likely benign
Multiple submitters
Chitayat syndrome
-
ERF p.Val128Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ERF p.Ala175Thr Uncertain significance Single submitter
- ERF p.Ala206Thr Uncertain significance Single submitter
-
ERF p.Ala501Thr
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Arg143Cys
Likely benign
Single submitter
Inborn genetic diseases
-
ERF p.Arg143Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Arg160His
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Arg179Cys Uncertain significance Single submitter
- ERF p.Arg237Trp Uncertain significance Single submitter
-
ERF p.Arg312Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Arg329Cys Uncertain significance Single submitter
- ERF p.Arg329Leu Uncertain significance Single submitter
-
ERF p.Arg458Cys
Conflicting
Single submitter
Inborn genetic diseases
-
ERF p.Arg458His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Arg483His
Uncertain significance
Single submitter
multiple congenital anomalies/dysmorphic syndrome
-
ERF p.Arg529Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Asp191His Uncertain significance Single submitter
- ERF p.Gln43Glu Uncertain significance Single submitter
-
ERF p.Glu434Lys
Uncertain significance
Single submitter
craniosynostosis
-
ERF p.Glu467Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Gly201Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Gly299Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Gly408Arg
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
- ERF p.Ile119Met Uncertain significance Single submitter
-
ERF p.Lys426Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Lys465Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Lys481Asn Uncertain significance Single submitter
-
ERF p.Lys481Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Lys512Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Lys98Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Phe303Leu Uncertain significance Single submitter
- ERF p.Pro145Ser Uncertain significance Single submitter
-
ERF p.Pro199Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Pro220His
Likely benign
Single submitter
TWIST1-related craniosynostosis
- ERF p.Pro22Ser Uncertain significance Single submitter
-
ERF p.Pro269His
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Pro272Ser Uncertain significance Single submitter
- ERF p.Pro279Ser Uncertain significance Single submitter
- ERF p.Pro468Leu Uncertain significance Single submitter
-
ERF p.Ser24Ala
Uncertain significance
Single submitter
ERF-related disorder
- ERF p.Ser265Tyr Uncertain significance Single submitter
- ERF p.Ser301Phe Uncertain significance Single submitter
-
ERF p.Ser363Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERF p.Ser373Tyr
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
-
ERF p.Ser431Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ERF p.Ser548Phe Uncertain significance Single submitter
- ERF p.Thr538Met Uncertain significance Single submitter
-
ERF p.Tyr277Cys
Uncertain significance
Single submitter
TWIST1-related craniosynostosis
- ERF p.Val135Gly Uncertain significance Single submitter
-
ERF p.Val396Ile
Likely benign
Single submitter
Inborn genetic diseases
- ERF p.Val440Met Uncertain significance Single submitter
- ERF p.Val69Ile Uncertain significance Single submitter
-
ERF p.Arg389Trp
Uncertain significance
No assertion criteria
ERF-related disorder
All ERF variants
Pathogenic 27
- p.Arg183Ter Multiple submitters Noonan-like syndrome
- p.Arg207Ter Multiple submitters Noonan Syndrome-like developmental disorder
- p.Arg233Ter Multiple submitters Noonan Syndrome-like developmental disorder
- p.Asp188_Cys189insTer Multiple submitters Lambdoidal craniosynostosis
- p.Ser304del Multiple submitters TWIST1-related craniosynostosis
- p.Tyr89Cys Multiple submitters Inborn genetic diseases
- c.-44_22+11del Single submitter TWIST1-related craniosynostosis
- p.Arg92fs Single submitter TWIST1-related craniosynostosis
- p.Gln341fs Single submitter TWIST1-related craniosynostosis
- p.Gln75Ter Single submitter TWIST1-related craniosynostosis
- p.Glu35Ter Single submitter Common craniosynostosis syndromes
- p.Glu41Ter Single submitter TWIST1-related craniosynostosis
- p.His227fs Single submitter Inborn genetic diseases
- p.Ile46fs Single submitter Noonan Syndrome-like developmental disorder
- p.Leu245fs Single submitter TWIST1-related craniosynostosis
- p.Leu332_His333insTer Single submitter TWIST1-related craniosynostosis
- p.Leu85fs Single submitter TWIST1-related craniosynostosis
- p.Met1Val Single submitter
- p.Met286fs Single submitter TWIST1-related craniosynostosis
- p.Phe504fs Single submitter Noonan Syndrome-like developmental disorder
- p.Pro22fs Single submitter Inborn genetic diseases
- p.Pro262fs Single submitter Inborn genetic diseases
- p.Pro4fs Single submitter Noonan Syndrome-like developmental disorder
- p.Ser169Ter Single submitter ERF-related disorder
- p.Trp48Ter Single submitter TWIST1-related craniosynostosis
- c.23-2A>G No assertion criteria Lambdoidal craniosynostosis
- p.Gln424Ter No assertion criteria Lambdoidal craniosynostosis
Pathogenic/Likely pathogenic 8
- p.Arg143fs Multiple submitters Inborn genetic diseases
- p.Arg218Ter Multiple submitters Inborn genetic diseases
- p.Arg86Cys Multiple submitters ERF-related disorder
- p.Gln263Ter Multiple submitters Inborn genetic diseases
- p.Gly299fs Multiple submitters Lambdoidal craniosynostosis
- p.Lys401fs Multiple submitters Noonan Syndrome-like developmental disorder
- p.Pro358fs Multiple submitters TWIST1-related craniosynostosis
- p.Ser24Ter Multiple submitters Lambdoidal craniosynostosis
Likely pathogenic 22
- p.Gly53Arg Multiple submitters Noonan-like syndrome
- p.Pro133fs Multiple submitters
- p.Trp14Ter Multiple submitters Lambdoidal craniosynostosis
- c.258-2A>G Single submitter craniosynostosis 4
- p.Ala127fs Single submitter
- p.Ala175fs Single submitter Lambdoidal craniosynostosis
- p.Ala223fs Single submitter
- p.Gln49Ter Single submitter Lambdoidal craniosynostosis
- p.Glu393fs Single submitter
- p.Glu437fs Single submitter TWIST1-related craniosynostosis
- p.Gly53Ala Single submitter Lambdoidal craniosynostosis
- p.Leu111fs Single submitter craniosynostosis 4
- p.Leu350fs Single submitter Lambdoidal craniosynostosis
- p.Leu37Pro Single submitter TWIST1-related craniosynostosis
- p.Lys311fs Single submitter
- p.Pro294fs Single submitter Lambdoidal craniosynostosis
- p.Ser295fs Single submitter
- p.Trp30Ter Single submitter Neonatal encephalopathy
- p.Tyr313Ter Single submitter Chitayat syndrome
- p.Tyr324Ter Single submitter ERF-related disorder
- p.Lys96Ter No assertion criteria Lambdoidal craniosynostosis
- p.Pro163fs No assertion criteria ERF-related disorder
Conflicting classifications of pathogenicity 8
- c.22+2T>G Single submitter Lambdoidal craniosynostosis ⚠
- p.Arg458Cys Single submitter Inborn genetic diseases ⚠
- p.Arg65Gln Single submitter TWIST1-related craniosynostosis ⚠
- p.Arg83Gln Single submitter TWIST1-related craniosynostosis ⚠
- p.Arg83Trp Single submitter Lambdoidal craniosynostosis ⚠
- p.Leu275Pro Single submitter TWIST1-related craniosynostosis ⚠
- p.Met353Val Single submitter TWIST1-related craniosynostosis ⚠
- p.Pro351Leu Single submitter TWIST1-related craniosynostosis ⚠
Benign 14
- c.23-221T>C Multiple submitters
- c.257+80C>T Multiple submitters
- p.Ala410= Multiple submitters TWIST1-related craniosynostosis
- p.Arg205= Multiple submitters TWIST1-related craniosynostosis
- p.Leu225= Multiple submitters TWIST1-related craniosynostosis
- p.Ser327= Multiple submitters TWIST1-related craniosynostosis
- p.Ser368= Multiple submitters TWIST1-related craniosynostosis
- p.Glu509Asp Single submitter
- p.Gly44= Single submitter TWIST1-related craniosynostosis
- p.Gly8= Single submitter TWIST1-related craniosynostosis
- p.Pro136= Single submitter TWIST1-related craniosynostosis
- p.Ser280= Single submitter TWIST1-related craniosynostosis
- p.Thr538= Single submitter TWIST1-related craniosynostosis
- p.Val135= Single submitter TWIST1-related craniosynostosis
Benign/Likely benign 4
- p.Ala415Val Multiple submitters TWIST1-related craniosynostosis ⚠
- p.Gly398Ser Multiple submitters TWIST1-related craniosynostosis
- p.Leu172Phe Multiple submitters TWIST1-related craniosynostosis ⚠
- p.Pro349Leu Multiple submitters TWIST1-related craniosynostosis
Likely benign 51
- p.Pro421= Multiple submitters TWIST1-related craniosynostosis
- p.Pro421Leu Multiple submitters Chitayat syndrome ⚠
- p.Ser295= Multiple submitters TWIST1-related craniosynostosis
- p.Ser373del Multiple submitters TWIST1-related craniosynostosis
- c.23-154A>G Single submitter
- c.23-9C>T Single submitter TWIST1-related craniosynostosis
- c.257+8C>T Single submitter TWIST1-related craniosynostosis
- c.258-12C>G Single submitter TWIST1-related craniosynostosis
- c.374-16G>A Single submitter TWIST1-related craniosynostosis
- p.Ala254= Single submitter TWIST1-related craniosynostosis
- p.Ala397= Single submitter TWIST1-related craniosynostosis
- p.Ala415= Single submitter TWIST1-related craniosynostosis
- p.Ala462= Single submitter TWIST1-related craniosynostosis
- p.Ala537= Single submitter TWIST1-related craniosynostosis
- p.Arg143Cys Single submitter Inborn genetic diseases ⚠
- p.Arg344His Single submitter Inborn genetic diseases
- p.Arg487= Single submitter TWIST1-related craniosynostosis
- p.Arg83= Single submitter TWIST1-related craniosynostosis
- p.Arg92= Single submitter
- p.Asp445= Single submitter TWIST1-related craniosynostosis
- p.Cys189Gly Single submitter TWIST1-related craniosynostosis
- p.Glu151= Single submitter TWIST1-related craniosynostosis
- p.Gly433= Single submitter Inborn genetic diseases
- p.Gly50= Single submitter
- p.His95= Single submitter
- p.Leu275= Single submitter TWIST1-related craniosynostosis
- p.Leu314= Single submitter
- p.Leu384= Single submitter TWIST1-related craniosynostosis
- p.Leu482= Single submitter
- p.Leu534= Single submitter TWIST1-related craniosynostosis
- p.Leu94= Single submitter
- p.Pro12= Single submitter TWIST1-related craniosynostosis
- p.Pro159= Single submitter TWIST1-related craniosynostosis
- p.Pro199= Single submitter TWIST1-related craniosynostosis
- p.Pro220His Single submitter TWIST1-related craniosynostosis ⚠
- p.Pro262Leu Single submitter Inborn genetic diseases
- p.Pro381= Single submitter TWIST1-related craniosynostosis
- p.Pro420= Single submitter TWIST1-related craniosynostosis
- p.Pro422= Single submitter
- p.Pro468= Single submitter
- p.Pro500= Single submitter TWIST1-related craniosynostosis
- p.Ser150= Single submitter TWIST1-related craniosynostosis
- p.Thr271= Single submitter TWIST1-related craniosynostosis
- p.Thr273= Single submitter TWIST1-related craniosynostosis
- p.Thr273Ser Single submitter Inborn genetic diseases
- p.Tyr116Cys Single submitter craniosynostosis 4
- p.Tyr78= Single submitter TWIST1-related craniosynostosis
- p.Tyr88= Single submitter TWIST1-related craniosynostosis
- p.Val360= Single submitter
- p.Val396Ile Single submitter Inborn genetic diseases ⚠
- p.Pro133= No assertion criteria ERF-related disorder
Uncertain significance 157
- p.Ala462Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg179His Multiple submitters Inborn genetic diseases ⚠
- p.Arg180Cys Multiple submitters Lambdoidal craniosynostosis ⚠
- p.Arg312Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg458Gly Multiple submitters TWIST1-related craniosynostosis ⚠
- p.Arg493His Multiple submitters TWIST1-related craniosynostosis ⚠
- p.Arg546Ter Multiple submitters Inborn genetic diseases
- p.Arg86His Multiple submitters TWIST1-related craniosynostosis ⚠
- p.Lys401Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met76Thr Multiple submitters TWIST1-related craniosynostosis ⚠
- p.Pro133Leu Multiple submitters TWIST1-related craniosynostosis ⚠
- p.Val128Gly Multiple submitters Inborn genetic diseases ⚠
- c.17_22+10dup Single submitter Inborn genetic diseases
- c.373+5_373+6delinsCTGTACCCCAGTGGTGGCGGGGGGCCCAGCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCTGAGGACATGAAACGGTACCTGCAGGCCCACACCCAA Single submitter TWIST1-related craniosynostosis
- c.373+8C>T Single submitter Lambdoidal craniosynostosis
- p.Ala175Thr Single submitter ⚠
- p.Ala178Pro Single submitter TWIST1-related craniosynostosis ⚠
- p.Ala206Thr Single submitter ⚠
- p.Ala316Asp Single submitter ⚠
- p.Ala354Thr Single submitter Inborn genetic diseases ⚠
- p.Ala397Gly Single submitter Inborn genetic diseases ⚠
- p.Ala415del Single submitter TWIST1-related craniosynostosis
- p.Ala501fs Single submitter TWIST1-related craniosynostosis
- p.Ala501Thr Single submitter TWIST1-related craniosynostosis ⚠
- p.Ala521Gly Single submitter Inborn genetic diseases ⚠
- p.Arg101Trp Single submitter ⚠
- p.Arg143His Single submitter Inborn genetic diseases ⚠
- p.Arg143Ser Single submitter Inborn genetic diseases ⚠
- p.Arg160His Single submitter Inborn genetic diseases ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg183Gly Single submitter Inborn genetic diseases ⚠
- p.Arg207Leu Single submitter Inborn genetic diseases ⚠
- p.Arg233Gln Single submitter Inborn genetic diseases ⚠
- p.Arg237Trp Single submitter ⚠
- p.Arg25Lys Single submitter ⚠
- p.Arg312Trp Single submitter Inborn genetic diseases ⚠
- p.Arg329Cys Single submitter ⚠
- p.Arg329Leu Single submitter ⚠
- p.Arg344Gly Single submitter Lambdoidal craniosynostosis ⚠
- p.Arg38Gln Single submitter Inborn genetic diseases ⚠
- p.Arg458His Single submitter Inborn genetic diseases ⚠
- p.Arg483His Single submitter multiple congenital anomalies/dysmorphic syndrome ⚠
- p.Arg487Cys Single submitter ⚠
- p.Arg493Cys Single submitter TWIST1-related craniosynostosis ⚠
- p.Arg528Ser Single submitter Inborn genetic diseases ⚠
- p.Arg529Gln Single submitter Inborn genetic diseases ⚠
- p.Arg529Pro Single submitter Inborn genetic diseases ⚠
- p.Arg546Gln Single submitter Inborn genetic diseases ⚠
- p.Arg65Trp Single submitter ⚠
- p.Arg70Cys Single submitter TWIST1-related craniosynostosis ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asp191His Single submitter ⚠
- p.Asp491Gly Single submitter ⚠
- p.Cys165Phe Single submitter ⚠
- p.Gln28His Single submitter ⚠
- p.Gln343His Single submitter ⚠
- p.Gln43Glu Single submitter ⚠
- p.Glu356Lys Single submitter ⚠
- p.Glu41del Single submitter
- p.Glu434Lys Single submitter craniosynostosis ⚠
- p.Glu446Asp Single submitter Inborn genetic diseases ⚠
- p.Glu467Asp Single submitter Inborn genetic diseases ⚠
- p.Glu516fs Single submitter Paediatric disorders
- p.Gly201Val Single submitter Inborn genetic diseases ⚠
- p.Gly299Arg Single submitter Inborn genetic diseases ⚠
- p.Gly408Arg Single submitter TWIST1-related craniosynostosis ⚠
- p.Gly451Arg Single submitter Inborn genetic diseases ⚠
- p.Gly473Arg Single submitter ⚠
- p.Gly499Ala Single submitter Inborn genetic diseases ⚠
- p.Gly499Ser Single submitter Inborn genetic diseases ⚠
- p.Gly522Ala Single submitter Inborn genetic diseases ⚠
- p.Gly68Ser Single submitter ⚠
- p.Ile119Leu Single submitter TWIST1-related craniosynostosis ⚠
- p.Ile119Met Single submitter ⚠
- p.Ile430Val Single submitter Inborn genetic diseases ⚠
- p.Ile443fs Single submitter
- p.Ile46Thr Single submitter TWIST1-related craniosynostosis ⚠
- p.Ile93Val Single submitter ⚠
- p.Leu214Pro Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu350Arg Single submitter Inborn genetic diseases ⚠
- p.Leu37Val Single submitter ⚠
- p.Leu525fs Single submitter
- p.Leu94Pro Single submitter TWIST1-related craniosynostosis ⚠
- p.Lys110Glu Single submitter ⚠
- p.Lys426Arg Single submitter Inborn genetic diseases ⚠
- p.Lys465Asn Single submitter Inborn genetic diseases ⚠
- p.Lys481Arg Single submitter ⚠
- p.Lys481Asn Single submitter ⚠
- p.Lys481Glu Single submitter Inborn genetic diseases ⚠
- p.Lys512Asn Single submitter Inborn genetic diseases ⚠
- p.Lys71Asn Single submitter ⚠
- p.Lys71Thr Single submitter Inborn genetic diseases ⚠
- p.Lys80Asn Single submitter Inborn genetic diseases ⚠
- p.Lys98Glu Single submitter Inborn genetic diseases ⚠
- p.Met270Ile Single submitter TWIST1-related craniosynostosis ⚠
- p.Met478Val Single submitter ⚠
- p.Met76Ile Single submitter plasma cell myeloma ⚠
- p.Met76Lys Single submitter Lambdoidal craniosynostosis ⚠
- p.Met76Val Single submitter Lambdoidal craniosynostosis ⚠
- p.Phe303Leu Single submitter ⚠
- p.Phe32Leu Single submitter ⚠
- p.Phe55Leu Single submitter ⚠
- p.Pro117Ala Single submitter ⚠
- p.Pro12Leu Single submitter TWIST1-related craniosynostosis ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro199Gln Single submitter Inborn genetic diseases ⚠
- p.Pro199Leu Single submitter Inborn genetic diseases ⚠
- p.Pro209Arg Single submitter ⚠
- p.Pro211Ala Single submitter Inborn genetic diseases ⚠
- p.Pro212Leu Single submitter Inborn genetic diseases ⚠
- p.Pro221Ala Single submitter Inborn genetic diseases ⚠
- p.Pro221Leu Single submitter ⚠
- p.Pro22Ser Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Pro247Thr Single submitter ⚠
- p.Pro269His Single submitter Inborn genetic diseases ⚠
- p.Pro272Ser Single submitter ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro288Ser Single submitter ⚠
- p.Pro294Leu Single submitter TWIST1-related craniosynostosis ⚠
- p.Pro294Ser Single submitter Inborn genetic diseases ⚠
- p.Pro351Ala Single submitter Inborn genetic diseases ⚠
- p.Pro355Ser Single submitter Inborn genetic diseases ⚠
- p.Pro464Ala Single submitter Inborn genetic diseases ⚠
- p.Pro468Leu Single submitter ⚠
- p.Pro472Ser Single submitter Inborn genetic diseases ⚠
- p.Pro74Arg Single submitter Inborn genetic diseases ⚠
- p.Ser137Leu Single submitter Inborn genetic diseases ⚠
- p.Ser170_Ser171del Single submitter
- p.Ser171del Single submitter TWIST1-related craniosynostosis
- p.Ser24Ala Single submitter ERF-related disorder ⚠
- p.Ser265Tyr Single submitter ⚠
- p.Ser297Ala Single submitter TWIST1-related craniosynostosis ⚠
- p.Ser301Phe Single submitter ⚠
- p.Ser363Leu Single submitter Inborn genetic diseases ⚠
- p.Ser373Tyr Single submitter TWIST1-related craniosynostosis ⚠
- p.Ser431Leu Single submitter Inborn genetic diseases ⚠
- p.Ser548Phe Single submitter ⚠
- p.Thr538Met Single submitter ⚠
- p.Thr7= Single submitter
- p.Thr97Ala Single submitter Inborn genetic diseases ⚠
- p.Trp14Gly Single submitter TWIST1-related craniosynostosis ⚠
- p.Trp67Gly Single submitter TWIST1-related craniosynostosis ⚠
- p.Tyr277Cys Single submitter TWIST1-related craniosynostosis ⚠
- p.Val114fs Single submitter Lambdoidal craniosynostosis
- p.Val135Gly Single submitter ⚠
- p.Val234Ile Single submitter ⚠
- p.Val250Leu Single submitter TWIST1-related craniosynostosis ⚠
- p.Val321Ile Single submitter Inborn genetic diseases ⚠
- p.Val440Met Single submitter ⚠
- p.Val69Ile Single submitter ⚠
- p.Arg389Trp No assertion criteria ERF-related disorder ⚠
- p.Lys512Arg No assertion criteria ERF-related disorder ⚠
- p.Pro285Leu No assertion criteria Lambdoidal craniosynostosis ⚠
- p.Pro518fs No assertion criteria Noonan syndrome