FGFR2 — 933 ClinVar variants

All ClinVar germline FGFR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 317 flagged for review →

62 Pathogenic · 25 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 54 Conflicting · 73 Benign · 37 Benign/Likely benign · 254 Likely benign · 388 Uncertain significance

Full FGFR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 317

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

FGFR2 p.Ala314Ser Pathogenic/Likely pathogenic Multiple submitters
Pfeiffer syndrome
FGFR2 p.Tyr328Cys Pathogenic/Likely pathogenic Multiple submitters
FGFR2-related disorder
FGFR2 p.Ala362Ser Pathogenic Single submitter
FGFR2-related craniosynostosis

Predictors agree, ClinVar conflicts 23

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

FGFR2 p.Ala315Ser Conflicting Single submitter
FGFR2-related disorder
FGFR2 p.Ala362Glu Conflicting Single submitter
Inborn genetic diseases
FGFR2 p.Ala461Val Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ala97Thr Conflicting Single submitter
FGFR2-realated disorder
FGFR2 p.Arg425Gln Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Arg450Cys Conflicting Single submitter
Pfeiffer syndrome
FGFR2 p.Arg664Gln Conflicting Single submitter
Inborn genetic diseases
FGFR2 p.Arg6Cys Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asn184Ile Conflicting Single submitter
Inborn genetic diseases
FGFR2 p.Asp521Gly Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Gln46His Conflicting Single submitter
Craniosynostosis, nonspecific
FGFR2 p.Glu806Lys Conflicting Single submitter
Inborn genetic diseases
FGFR2 p.Gly96Val Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ile8Ser Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Leu809Pro Conflicting Single submitter
Apert syndrome
FGFR2 p.Met186Val Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Pro253Leu Conflicting Single submitter
Inborn genetic diseases
FGFR2 p.Pro800Leu Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ser252Leu Conflicting Single submitter
FGFR2-related disorder
FGFR2 p.Trp356Gly Conflicting Single submitter
Crouzon syndrome
FGFR2 p.Tyr375Phe Conflicting Single submitter
LADD syndrome 1
FGFR2 p.Val12Met Conflicting Single submitter
Beare-Stevenson cutis gyrata syndrome
FGFR2 p.Val51Met Conflicting Single submitter
Apert syndrome

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.

FGFR2 c.940-2A>G Conflicting Single submitter
gastric cancer

Predictors lean, ClinVar uncertain 212

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 212

FGFR2 p.Ala140Thr Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Ala140Val Uncertain significance Multiple submitters
Apert syndrome
FGFR2 p.Ala362Val Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Ala389Val Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Ala414Thr Uncertain significance Multiple submitters
Crouzon syndrome
FGFR2 p.Ala511Ser Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Ala68Thr Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Ala68Val Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Arg100Gly Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Arg178Cys Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Arg203His Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Arg421His Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Arg6His Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Asn241Ser Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Asn402Ser Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Asn546Thr Uncertain significance Multiple submitters
Apert syndrome
FGFR2 p.Asn662Ser Uncertain significance Multiple submitters
Apert syndrome
FGFR2 p.Asp126Asn Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Cys62Phe Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Glu48Ala Uncertain significance Multiple submitters
Inborn genetic diseases
FGFR2 p.Glu731Lys Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Gly139Ser Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Gly195Arg Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Gly261Arg Uncertain significance Multiple submitters
Apert syndrome
FGFR2 p.Gly302Arg Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Gly96Asp Uncertain significance Multiple submitters
Inborn genetic diseases
FGFR2 p.Leu258Phe Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Leu451Val Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Leu483Pro Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Lys41Arg Uncertain significance Multiple submitters
FGFR2 p.Met121Thr Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Met15Val Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Met693Thr Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Pro23Thr Uncertain significance Multiple submitters
Apert syndrome
FGFR2 p.Pro263Leu Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Pro373Ser Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Pro413Leu Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Pro443Leu Uncertain significance Multiple submitters
Crouzon syndrome
FGFR2 p.Pro54Ser Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Pro804Ser Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Ser115Asn Uncertain significance Multiple submitters
FGFR2-related disorder
FGFR2 p.Thr320Met Uncertain significance Multiple submitters
FGFR2 p.Thr448Ala Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Thr98Met Uncertain significance Multiple submitters
Inborn genetic diseases
FGFR2 p.Tyr50Phe Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Tyr616Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FGFR2 p.Val463Asp Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Val86Gly Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Ala127Gly Uncertain significance Single submitter
FGFR2 p.Ala16Thr Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Ala355Val Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ala362Thr Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ala371Val Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ala389Thr Uncertain significance Single submitter
FGFR2 p.Ala498Val Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ala511Thr Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ala53Val Uncertain significance Single submitter
FGFR2 p.Ala726Gly Uncertain significance Single submitter
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
FGFR2 p.Arg100Lys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Arg152Ile Uncertain significance Single submitter
FGFR2 p.Arg178Leu Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Arg210Gly Uncertain significance Single submitter
FGFR2 p.Arg22Gln Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Arg255Trp Uncertain significance Single submitter
Pfeiffer syndrome
FGFR2 p.Arg573Gln Uncertain significance Single submitter
FGFR2 p.Arg579Trp Uncertain significance Single submitter
Jackson-Weiss syndrome
FGFR2 p.Arg747Ile Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Asn150Lys Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Asn346Lys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asn441His Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asn549Ile Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asn591Ser Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asn631Asp Uncertain significance Single submitter
FGFR2 p.Asn653His Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Asn82Lys Uncertain significance Single submitter
FGFR2 p.Asn82Ser Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asp374Asn Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asp456Gly Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Asp504Glu Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asp522Val Uncertain significance Single submitter
FGFR2 p.Asp650Val Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asp75Tyr Uncertain significance Single submitter
FGFR2 p.Cys398Tyr Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Cys554Ser Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Cys790Arg Uncertain significance Single submitter
FGFR2 p.Gln259His Uncertain significance Single submitter
FGFR2 p.Gln43His Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Gln43Lys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Gln46Glu Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Gln494Arg Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Gln494His Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Gln811Lys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Glu141Gly Uncertain significance Single submitter
FGFR2 p.Glu250Gly Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Glu325Lys Uncertain significance Single submitter
FGFR2 p.Glu37Gln Uncertain significance Single submitter
FGFR2 p.Glu433Asp Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Glu465Gly Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Glu525Val Uncertain significance Single submitter
FGFR2 p.Glu585Gln Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Glu718Gln Uncertain significance Single submitter
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
FGFR2 p.Glu718Lys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Gly298Asp Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Gly298Cys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Gly305Arg Uncertain significance Single submitter
FGFR2 p.Gly305Val Uncertain significance Single submitter
FGFR2 p.Gly345Asp Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Gly701Cys Uncertain significance Single submitter
FGFR2 p.Gly817Ser Uncertain significance Single submitter
FGFR2 p.His353Leu Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.His544Gln Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.His682Arg Uncertain significance Single submitter
Saethre-Chotzen syndrome
FGFR2 p.Ile204Val Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Ile348Val Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ile654Thr Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ile654Val Uncertain significance Single submitter
Apert syndrome
FGFR2 p.Ile815Val Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Ile8Val Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Leu306Val Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Leu357Val Uncertain significance Single submitter
FGFR2 p.Leu360Val Uncertain significance Single submitter
FGFR2 p.Leu483Gln Uncertain significance Single submitter
FGFR2 p.Leu79Trp Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Lys151Asn Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Lys226Arg Uncertain significance Single submitter
FGFR2 p.Lys322Arg Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Lys322Glu Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Lys509Arg Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Lys539Arg Uncertain significance Single submitter
FGFR2 p.Met121Arg Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Met121Val Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Met15Leu Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Met459Leu Uncertain significance Single submitter
FGFR2 p.Met535Thr Uncertain significance Single submitter
FGFR2-related disorder
FGFR2 p.Met540Val Uncertain significance Single submitter
FGFR2 p.Met584Val Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Met614Val Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Met734Leu Uncertain significance Single submitter
FGFR2 p.Phe25Ser Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Phe334Tyr Uncertain significance Single submitter
FGFR2 p.Pro185Leu Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Pro187Arg Uncertain significance Single submitter
FGFR2 p.Pro23Ala Uncertain significance Single submitter
FGFR2 p.Pro256Ala Uncertain significance Single submitter
FGFR2 p.Pro263Arg Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Pro39Arg Uncertain significance Single submitter
FGFR2 p.Pro407Leu Uncertain significance Single submitter
FGFR2 p.Pro443Arg Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Pro594Ala Uncertain significance Single submitter
FGFR2 p.Pro666Ala Uncertain significance Single submitter
FGFR2-related disorder

Predictors split 78

The independent predictors disagree with each other — read with care.

FGFR2 p.Ala266Pro Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Ala567Thr Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Arg165Gln Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Arg190Gln Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Arg330Trp Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Arg61Cys Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Asn730Ser Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Asp304Asn Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Gly182Trp Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Gly583Ala Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Lys601Arg Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Lys751Gln Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Phe409Val Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Pro744Ser Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Pro775Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FGFR2 p.Thr157Ala Uncertain significance Multiple submitters
Inborn genetic diseases
FGFR2 p.Thr442Ile Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Thr749Ala Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Val496Ile Uncertain significance Multiple submitters
bent bone dysplasia syndrome 1
FGFR2 p.Val686Ile Uncertain significance Multiple submitters
FGFR2-related craniosynostosis
FGFR2 p.Ala337Thr Uncertain significance Single submitter
Common craniosynostosis syndromes
FGFR2 p.Ala567Val Uncertain significance Single submitter
craniosynostosis
FGFR2 p.Ala618Thr Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Arg190Trp Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Arg330Gln Conflicting Single submitter
Jackson-Weiss syndrome
FGFR2 p.Arg426Ser Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Arg450His Uncertain significance Single submitter
FGFR2 p.Arg592Cys Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Arg759Gln Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Asn184Lys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asn331Ser Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asn549Ser Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Asn638Lys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asn727Ser Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asp132His Uncertain significance Single submitter
FGFR2 p.Asp321Glu Conflicting Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asp738Asn Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Asp771Asn Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Cys808Trp Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Glu197Gln Uncertain significance Single submitter
FGFR2 p.Glu275Gln Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Glu636Gly Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Gly182Arg Uncertain significance Single submitter
FGFR2 p.Ile541Met Uncertain significance Single submitter
FGFR2 p.Ile563Val Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Leu418Val Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Leu732Met Uncertain significance Single submitter
FGFR2 p.Lys405Glu Conflicting Single submitter
Apert syndrome
FGFR2 p.Met391Ile Uncertain significance Single submitter
FGFR2 p.Met400Ile Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Met535Leu Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Pro180Ser Likely benign Single submitter
Apert syndrome
FGFR2 p.Pro303Arg Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Pro303Thr Uncertain significance Single submitter
FGFR2 p.Pro423Ser Uncertain significance Single submitter
FGFR2 p.Pro458Thr Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Pro775Ser Uncertain significance Single submitter
FGFR2 p.Ser115Gly Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Ser19Phe Uncertain significance Single submitter
FGFR2 p.Ser215Asn Uncertain significance Single submitter
FGFR2 p.Ser239Phe Uncertain significance Single submitter
FGFR2 p.Ser605Ala Uncertain significance Single submitter
FGFR2 p.Ser619Thr Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Ser789Cys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Thr454Met Likely benign Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Thr457Asn Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Thr513Ala Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Thr524Ala Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Thr749Met Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Thr764Ala Uncertain significance Single submitter
Inborn genetic diseases
FGFR2 p.Thr786Ile Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Tyr301Cys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Tyr575His Uncertain significance Single submitter
FGFR2 p.Tyr588Cys Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Val415Ala Uncertain significance Single submitter
FGFR2-related craniosynostosis
FGFR2 p.Val634Ile Uncertain significance Single submitter
FGFR2 p.Val639Met Uncertain significance Single submitter
bent bone dysplasia syndrome 1
FGFR2 p.Val797Phe Uncertain significance Single submitter
Inborn genetic diseases

All FGFR2 variants

Pathogenic 62

c.1084+1G>A Multiple submitters FGFR2-related craniosynostosis
c.1084+2T>C Multiple submitters FGFR2-related craniosynostosis
c.1084+3A>G Multiple submitters FGFR2-related craniosynostosis
c.940-1G>T Multiple submitters FGFR2-related craniosynostosis
c.940-2A>C Multiple submitters Apert syndrome
p.Ala344= Multiple submitters FGFR2-related disorder
p.Ala344Gly Multiple submitters FGFR2-related disorder
p.Ala648Thr Multiple submitters FGFR2-related craniosynostosis
p.Asp321Ala Multiple submitters FGFR2-related craniosynostosis
p.Cys278Phe Multiple submitters FGFR2-related disorder
p.Cys342Arg Multiple submitters FGFR2-related disorder
p.Cys342Phe Multiple submitters FGFR2-related craniosynostosis
p.Cys342Ser Multiple submitters FGFR2-related craniosynostosis
p.Cys342Trp Multiple submitters FGFR2-related disorder
p.Cys382Arg Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Gln289Pro Multiple submitters FGFR2-related disorder
p.Gly338Arg Multiple submitters Common craniosynostosis syndromes
p.Gly663Glu Multiple submitters FGFR2-related craniosynostosis
p.Lys659Asn Multiple submitters FGFR2-related craniosynostosis
p.Phe276Val Multiple submitters Crouzon syndrome
p.Ser252Trp Multiple submitters Fetal anomalies with a likely genetic cause
p.Ser267Pro Multiple submitters FGFR2-related craniosynostosis
p.Ser351Cys Multiple submitters FGFR2-related craniosynostosis
p.Ser354Cys Multiple submitters Inborn genetic diseases
p.Ser372Cys Multiple submitters FGFR2-related disorder
p.Thr320Ala Multiple submitters FGFR2-related craniosynostosis
p.Thr341Pro Multiple submitters FGFR2-related craniosynostosis
p.Trp290Arg Multiple submitters FGFR2-related disorder
p.Trp290Cys Multiple submitters FGFR2-related disorder
p.Trp290Gly Multiple submitters FGFR2-related disorder
p.Tyr340Cys Multiple submitters FGFR2-related craniosynostosis
p.Tyr381Asp Multiple submitters FGFR2-related disorder
c.940-2A>T Single submitter Pfeiffer syndrome
c.940-3T>G Single submitter FGFR2-related craniosynostosis
p.Ala344Pro Single submitter FGFR2-related craniosynostosis
p.Ala355_Val359delinsValTrpLeuThrIle Single submitter FGFR2-related craniosynostosis
p.Ala362delinsValAsnThr Single submitter FGFR2-related craniosynostosis
p.Ala362Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Ala628Thr Single submitter LADD syndrome 1
p.Asn331Ile Single submitter
p.Asn549Asp Single submitter
p.Asn549Thr Single submitter
p.Asp321Val Single submitter FGFR2-related craniosynostosis
p.Cys278Trp Single submitter FGFR2-related craniosynostosis
p.Cys278Tyr Single submitter
p.Cys342Gly Single submitter FGFR2-related craniosynostosis
p.Leu617Phe Single submitter
p.Met391Arg Single submitter bent bone dysplasia syndrome 1
p.Pro361= Single submitter FGFR2-related craniosynostosis
p.Trp290Ser Single submitter Crouzon syndrome
p.Tyr340Asn Single submitter
p.Val359Phe Single submitter FGFR2-related craniosynostosis
c.1040_1041ins[N[360];1026_1040] No assertion criteria Apert syndrome
c.1672+1del No assertion criteria colorectal cancer
c.940-3_946delinsACC No assertion criteria Pfeiffer syndrome
p.Ala515Val No assertion criteria LADD syndrome
p.Arg649_Asp650delinsSer No assertion criteria LADD syndrome 1
p.His287_Pro307del No assertion criteria Beare-Stevenson cutis gyrata syndrome
p.Ile288_Val294delinsMet No assertion criteria Pfeiffer syndrome
p.Pro253Phe No assertion criteria Apert syndrome
p.Ser252_Pro253delinsPheSer No assertion criteria Pfeiffer syndrome variant
p.Val269_Val270del No assertion criteria Saethre-Chotzen syndrome

Pathogenic/Likely pathogenic 25

c.940-1G>A Multiple submitters FGFR2-related disorder
p.Ala314Ser Multiple submitters Pfeiffer syndrome ⚠
p.Ala337Pro Multiple submitters FGFR2-related disorder
p.Arg678Gly Multiple submitters FGFR2-related disorder
p.Asn549His Multiple submitters FGFR2-related disorder
p.Asp336Gly Multiple submitters Crouzon syndrome
p.Cys342Tyr Multiple submitters LADD syndrome 1
p.Glu565Ala Multiple submitters FGFR2-related disorder
p.Glu565Gly Multiple submitters FGFR2-related disorder
p.Gly271Val Multiple submitters FGFR2-related craniosynostosis
p.Gly338Glu Multiple submitters FGFR2-related craniosynostosis
p.Gly338Trp Multiple submitters Common craniosynostosis syndromes
p.Gly384Arg Multiple submitters FGFR2-related craniosynostosis
p.Ile288Asn Multiple submitters FGFR2-related craniosynostosis
p.Leu357Ser Multiple submitters Crouzon syndrome
p.Lys526Glu Multiple submitters FGFR2-related craniosynostosis
p.Lys641Arg Multiple submitters FGFR2-related disorder
p.Pro253Arg Multiple submitters FGFR2-related disorder
p.Ser347Cys Multiple submitters FGFR2-related disorder
p.Ser354Phe Multiple submitters FGFR2-related craniosynostosis
p.Tyr105Cys Multiple submitters FGFR2-related disorder
p.Tyr308Cys Multiple submitters Crouzon syndrome
p.Tyr328Cys Multiple submitters FGFR2-related disorder ⚠
p.Tyr340His Multiple submitters Common craniosynostosis syndromes
p.Tyr375Cys Multiple submitters FGFR2-related disorder

Likely pathogenic 40

p.Gly272del Multiple submitters Inborn genetic diseases
p.Tyr281Cys Multiple submitters Crouzon syndrome
c.1084+1G>T Single submitter
c.940-165_978del Single submitter Inborn genetic diseases
c.940-19_940-18insAlu Single submitter Apert syndrome
c.940-4_945del Single submitter FGFR2-related disorder
p.Ala172Phe Single submitter
p.Ala674Val Single submitter LADD syndrome
p.Arg255Gln Single submitter split hand-foot malformation
p.Asn549Leu Single submitter Craniosynostosis, nonspecific
p.Asp273del Single submitter Pfeiffer syndrome
p.Asp685Tyr Single submitter Bilateral sensorineural hearing impairment
p.Cys278Leu Single submitter Pfeiffer syndrome
p.Cys62Arg Single submitter
p.Glu325Val Single submitter
p.Glu565Lys Single submitter FGFR2-related craniosynostosis
p.Gly271Pro Single submitter Crouzon syndrome
p.Gly493Trp Single submitter LADD syndrome
p.Ile642Lys Single submitter
p.Leu699Ser Single submitter Pfeiffer syndrome
p.Lys292Glu Single submitter FGFR2-related craniosynostosis
p.Phe276_Val277insGluPhe Single submitter Crouzon syndrome
p.Pro286Arg Single submitter FGFR2-related disorder
p.Ser252Phe Single submitter Apert syndrome
p.Ser702Leu Single submitter Autosomal dominant FGFR2-related disorders
p.Thr341delinsAsnSer Single submitter
p.Thr341Met Single submitter
p.Trp290Leu Single submitter FGFR2-related craniosynostosis
p.Tyr340Ser Single submitter FGFR2-related craniosynostosis
p.Tyr381Asn Single submitter Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
p.Tyr381Cys Single submitter
p.Tyr381His Single submitter
p.Tyr586Ter Single submitter
p.Tyr656His Single submitter Apert syndrome
p.Val359Ala Single submitter Crouzon syndrome
p.Val395Asp Single submitter
c.1287+1G>A No assertion criteria Crouzon syndrome
p.Arg573Ter No assertion criteria
p.Glu534Lys No assertion criteria LADD syndrome
p.Pro286_Lys292del No assertion criteria FGFR2-related disorder

Conflicting classifications of pathogenicity 54

c.1561+10G>C Single submitter FGFR2-related craniosynostosis
c.1562-11A>G Single submitter FGFR2-related craniosynostosis
c.1673-4A>G Single submitter FGFR2-related craniosynostosis
c.625-10A>G Single submitter FGFR2-related craniosynostosis
c.940-2A>G Single submitter gastric cancer ⚠
c.-135C>T Single submitter Isolated Coronal Synostosis
c.-626C>A Single submitter Isolated Coronal Synostosis
c.*111G>A Single submitter Saethre-Chotzen syndrome
c.*197del Single submitter FGFR2-related disorder
c.*674G>T Single submitter Beare-Stevenson cutis gyrata syndrome
p.Ala315Ser Single submitter FGFR2-related disorder ⚠
p.Ala315Thr Single submitter LADD syndrome 1
p.Ala337del Single submitter FGFR2-related disorder
p.Ala362= Single submitter FGFR2-related craniosynostosis
p.Ala362Glu Single submitter Inborn genetic diseases ⚠
p.Ala389= Single submitter FGFR2-related craniosynostosis
p.Ala461Val Single submitter FGFR2-related craniosynostosis ⚠
p.Ala67= Single submitter FGFR2-related craniosynostosis
p.Ala97Thr Single submitter FGFR2-realated disorder ⚠
p.Arg190Trp Single submitter FGFR2-related craniosynostosis ⚠
p.Arg330Gln Single submitter Jackson-Weiss syndrome ⚠
p.Arg425Gln Single submitter FGFR2-related craniosynostosis ⚠
p.Arg450Cys Single submitter Pfeiffer syndrome ⚠
p.Arg592Cys Single submitter FGFR2-related craniosynostosis ⚠
p.Arg664Gln Single submitter Inborn genetic diseases ⚠
p.Arg6Cys Single submitter FGFR2-related craniosynostosis ⚠
p.Asn184Ile Single submitter Inborn genetic diseases ⚠
p.Asn730= Single submitter Crouzon syndrome
p.Asp321Glu Single submitter FGFR2-related craniosynostosis ⚠
p.Asp521Gly Single submitter FGFR2-related craniosynostosis ⚠
p.Cys342del Single submitter Crouzon syndrome
p.Gln46His Single submitter Craniosynostosis, nonspecific ⚠
p.Glu806Lys Single submitter Inborn genetic diseases ⚠
p.Gly238= Single submitter craniosynostosis
p.Gly96Val Single submitter FGFR2-related craniosynostosis ⚠
p.Ile8Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Leu343= Single submitter bent bone dysplasia syndrome 1
p.Leu809Pro Single submitter Apert syndrome ⚠
p.Lys405Glu Single submitter Apert syndrome ⚠
p.Met186Val Single submitter FGFR2-related craniosynostosis ⚠
p.Pro253= Single submitter FGFR2-related craniosynostosis
p.Pro253Leu Single submitter Inborn genetic diseases ⚠
p.Pro413= Single submitter Saethre-Chotzen syndrome
p.Pro708= Single submitter FGFR2-related craniosynostosis
p.Pro800Leu Single submitter FGFR2-related craniosynostosis ⚠
p.Ser252Leu Single submitter FGFR2-related disorder ⚠
p.Ser702= Single submitter FGFR2-related craniosynostosis
p.Thr404= Single submitter FGFR2-related craniosynostosis
p.Trp356Gly Single submitter Crouzon syndrome ⚠
p.Tyr375Phe Single submitter LADD syndrome 1 ⚠
p.Tyr680= Single submitter FGFR2-related craniosynostosis
p.Val11= Single submitter FGFR2-related craniosynostosis
p.Val12Met Single submitter Beare-Stevenson cutis gyrata syndrome ⚠
p.Val51Met Single submitter Apert syndrome ⚠

Benign 73

c.110-179C>G Multiple submitters
c.110-26G>A Multiple submitters
c.1288-23G>C Multiple submitters
c.1864-17T>G Multiple submitters FGFR2-related craniosynostosis
c.1987-106A>G Multiple submitters
c.1987-238G>A Multiple submitters
c.1987-99G>A Multiple submitters
c.2195+75G>A Multiple submitters
c.2301+1418G>A Multiple submitters
c.2301+1596C>T Multiple submitters
c.2301+15C>T Multiple submitters FGFR2-related craniosynostosis
c.2301+1716A>G Multiple submitters
c.2301+1829G>A Multiple submitters
c.2302-1819T>A Multiple submitters
c.2302-1820A>T Multiple submitters
c.2302-1826A>T Multiple submitters
c.2302-1838G>A Multiple submitters
c.376+213A>T Multiple submitters
c.376+63G>A Multiple submitters
c.454+54T>C Multiple submitters
c.749-112G>A Multiple submitters
c.749-183G>A Multiple submitters
c.749-62G>A Multiple submitters
c.-157A>G Multiple submitters Beare-Stevenson cutis gyrata syndrome
c.-236G>A Multiple submitters Beare-Stevenson cutis gyrata syndrome
c.-236G>C Multiple submitters Beare-Stevenson cutis gyrata syndrome
c.-458C>A Multiple submitters Beare-Stevenson cutis gyrata syndrome
c.*259C>T Multiple submitters Saethre-Chotzen syndrome
c.*469G>A Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Leu481= Multiple submitters FGFR2-related craniosynostosis
p.Leu647= Multiple submitters craniosynostosis
p.Val232= Multiple submitters FGFR2-related craniosynostosis
c.1085-222G>A Single submitter
c.109+12791del Single submitter FGFR2-related craniosynostosis
c.109+12912G>A Single submitter FGFR2-related craniosynostosis
c.109+12912G>T Single submitter FGFR2-related craniosynostosis
c.109+13116T>C Single submitter FGFR2-related craniosynostosis
c.109+3899T>A Single submitter FGFR2-related craniosynostosis
c.109+4561A>C Single submitter FGFR2-related craniosynostosis
c.109+4561A>T Single submitter FGFR2-related craniosynostosis
c.109+7033T>C Single submitter FGFR2-related craniosynostosis
c.109+7107C>T Single submitter FGFR2-related craniosynostosis
c.109+906T>C Single submitter FGFR2-related craniosynostosis
c.110-12117T>C Single submitter FGFR2-related craniosynostosis
c.110-320A>G Single submitter
c.1288-161G>A Single submitter
c.1561+333G>A Single submitter
c.1672+17dup Single submitter FGFR2-related craniosynostosis
c.1864-125dup Single submitter
c.1864-43del Single submitter squamous cell lung carcinoma
c.1987-20A>G Single submitter FGFR2-related craniosynostosis
c.2057+114_2057+135del Single submitter
c.2057+256C>T Single submitter
c.2195+232G>A Single submitter
c.2196-346dup Single submitter
c.2196-350G>A Single submitter
c.2301+1186A>G Single submitter
c.2301+1405G>A Single submitter
c.2301+1756G>A Single submitter
c.2301+1823G>A Single submitter
c.2302-1589C>T Single submitter
c.2302-895del Single submitter
c.376+260_376+261dup Single submitter
c.376+261dup Single submitter
c.455-219C>T Single submitter
c.455-315T>A Single submitter
c.624+139A>G Single submitter
c.624+140T>C Single submitter
c.939+923C>G Single submitter
c.-150-388G>A Single submitter
c.-150-522C>T Single submitter
c.-318G>C Single submitter Beare-Stevenson cutis gyrata syndrome
p.Ile324Val Single submitter FGFR2-related craniosynostosis

Benign/Likely benign 37

c.1085-13A>T Multiple submitters FGFR2-related craniosynostosis
c.109+10T>G Multiple submitters craniosynostosis
c.110-54C>T Multiple submitters
c.1673-12C>T Multiple submitters FGFR2-related craniosynostosis
c.1986+7C>T Multiple submitters FGFR2-related craniosynostosis
c.2058-10T>C Multiple submitters FGFR2-related craniosynostosis
c.454+14C>T Multiple submitters Isolated Coronal Synostosis
c.939+11T>C Multiple submitters FGFR2-related craniosynostosis
c.-46G>A Multiple submitters Isolated Coronal Synostosis
c.-61G>T Multiple submitters Beare-Stevenson cutis gyrata syndrome
c.-74G>A Multiple submitters Beare-Stevenson cutis gyrata syndrome
c.*184C>T Multiple submitters craniosynostosis
c.*324A>G Multiple submitters Beare-Stevenson cutis gyrata syndrome
c.*403A>G Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Ala314= Multiple submitters FGFR2-related craniosynostosis
p.Ala53= Multiple submitters FGFR2-related craniosynostosis
p.Arg22Trp Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Arg6Pro Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Asp133= Multiple submitters FGFR2-related craniosynostosis
p.Glu596= Multiple submitters FGFR2-related craniosynostosis
p.His293= Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Leu776= Multiple submitters FGFR2-related craniosynostosis
p.Met186Thr Multiple submitters FGFR2-related craniosynostosis
p.Pro263= Multiple submitters FGFR2-related craniosynostosis
p.Pro744= Multiple submitters Apert syndrome
p.Ser57Leu Multiple submitters FGFR2-related craniosynostosis
p.Ser587= Multiple submitters Apert syndrome
p.Thr188= Multiple submitters FGFR2-related craniosynostosis
p.Thr513= Multiple submitters FGFR2-related craniosynostosis
p.Thr524= Multiple submitters FGFR2-related craniosynostosis
p.Thr98= Multiple submitters FGFR2-related craniosynostosis
p.Tyr805= Multiple submitters FGFR2-related craniosynostosis
p.Val516= Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Val667= Multiple submitters FGFR2-related craniosynostosis
c.-358C>T Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1301C>T Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1319A>G Single submitter Beare-Stevenson cutis gyrata syndrome

Likely benign 254

c.1084+20T>C Multiple submitters FGFR2-related craniosynostosis
c.1084+8C>T Multiple submitters FGFR2-related craniosynostosis
c.109+17C>G Multiple submitters FGFR2-related craniosynostosis
c.1288-35A>G Multiple submitters
c.1288-8G>A Multiple submitters FGFR2-related craniosynostosis
c.1439+165A>G Multiple submitters
c.1439+95A>G Multiple submitters
c.1440-14A>G Multiple submitters FGFR2-related craniosynostosis
c.1440-231C>T Multiple submitters
c.1561+72A>G Multiple submitters
c.1673-171C>T Multiple submitters
c.1863+19A>G Multiple submitters FGFR2-related craniosynostosis
c.1986+8G>A Multiple submitters FGFR2-related craniosynostosis
c.1987-20A>T Multiple submitters Crouzon syndrome
c.1987-5T>G Multiple submitters FGFR2-related craniosynostosis
c.2195+7G>A Multiple submitters FGFR2-related craniosynostosis
c.2301+8C>T Multiple submitters FGFR2-related craniosynostosis
c.454+15G>A Multiple submitters FGFR2-related craniosynostosis
c.454+20C>T Multiple submitters FGFR2-related craniosynostosis
c.748+18C>T Multiple submitters Beare-Stevenson cutis gyrata syndrome
c.748+19G>A Multiple submitters FGFR2-related craniosynostosis
c.749-27T>C Multiple submitters
c.-6G>A Multiple submitters
p.Ala140= Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Ala515= Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Arg365= Multiple submitters FGFR2-related craniosynostosis
p.Arg61His Multiple submitters FGFR2-related craniosynostosis
p.Arg84= Multiple submitters FGFR2-related craniosynostosis
p.Asn637= Multiple submitters Apert syndrome
p.Asp304= Multiple submitters FGFR2-related craniosynostosis
p.Cys606= Multiple submitters FGFR2-related craniosynostosis
p.Cys622= Multiple submitters FGFR2-related craniosynostosis
p.Glu615= Multiple submitters
p.Gly96= Multiple submitters FGFR2-related craniosynostosis
p.His167= Multiple submitters FGFR2-related craniosynostosis
p.His78= Multiple submitters FGFR2-related craniosynostosis
p.Ile88Thr Multiple submitters FGFR2-related craniosynostosis
p.Leu572= Multiple submitters FGFR2-related craniosynostosis
p.Leu761= Multiple submitters FGFR2-related craniosynostosis
p.Lys485= Multiple submitters FGFR2-related craniosynostosis
p.Phe334= Multiple submitters FGFR2-related craniosynostosis
p.Pro443= Multiple submitters FGFR2-related craniosynostosis
p.Pro582= Multiple submitters FGFR2-related craniosynostosis
p.Pro807= Multiple submitters FGFR2-related craniosynostosis
p.Ser102= Multiple submitters FGFR2-related craniosynostosis
p.Ser452= Multiple submitters bent bone dysplasia syndrome 1
p.Thr243= Multiple submitters FGFR2-related craniosynostosis
p.Thr454= Multiple submitters FGFR2-related craniosynostosis
p.Tyr237= Multiple submitters FGFR2-related craniosynostosis
p.Tyr301= Multiple submitters FGFR2-related craniosynostosis
p.Tyr345= Multiple submitters
p.Val332= Multiple submitters FGFR2-related craniosynostosis
p.Val385= Multiple submitters Apert syndrome
p.Val445= Multiple submitters bent bone dysplasia syndrome 1
c.1085-13A>G Single submitter FGFR2-related craniosynostosis
c.1085-15T>C Single submitter FGFR2-related craniosynostosis
c.1085-19C>T Single submitter
c.1085-256C>A Single submitter
c.1085-8C>T Single submitter FGFR2-related craniosynostosis
c.1085-9G>A Single submitter FGFR2-related craniosynostosis
c.109+12790G>A Single submitter FGFR2-related craniosynostosis
c.109+14T>C Single submitter FGFR2-related craniosynostosis
c.109+4561_109+4562delinsCA Single submitter FGFR2-related craniosynostosis
c.110-195G>C Single submitter
c.110-22TC[3] Single submitter FGFR2-related craniosynostosis
c.1287+11A>G Single submitter FGFR2-related craniosynostosis
c.1287+287GT[5] Single submitter
c.1288-158G>A Single submitter
c.1288-15G>A Single submitter FGFR2-related craniosynostosis
c.1288-16_1288-15insTTG Single submitter FGFR2-related craniosynostosis
c.1439+174T>A Single submitter
c.1439+17G>A Single submitter
c.1439+185dup Single submitter
c.1440-10A>G Single submitter
c.1440-19C>A Single submitter
c.1440-248C>T Single submitter
c.1440-4T>A Single submitter FGFR2-related craniosynostosis
c.1440-6A>G Single submitter FGFR2-related craniosynostosis
c.1561+14C>T Single submitter FGFR2-related craniosynostosis
c.1561+179T>C Single submitter
c.1561+7G>A Single submitter FGFR2-related craniosynostosis
c.1562-6del Single submitter FGFR2-related craniosynostosis
c.1672+181T>G Single submitter
c.1672+20G>A Single submitter FGFR2-related craniosynostosis
c.1672+336A>G Single submitter
c.1673-11T>C Single submitter
c.1673-273C>T Single submitter
c.1673-8C>T Single submitter FGFR2-related craniosynostosis
c.1863+13C>T Single submitter FGFR2-related craniosynostosis
c.1863+14A>C Single submitter FGFR2-related craniosynostosis
c.1863+14A>G Single submitter FGFR2-related craniosynostosis
c.1863+199C>T Single submitter
c.1863+246A>G Single submitter
c.1864-6T>C Single submitter FGFR2-related craniosynostosis
c.1986+10T>C Single submitter FGFR2-related craniosynostosis
c.1986+15G>A Single submitter FGFR2-related craniosynostosis
c.1986+3A>G Single submitter
c.1987-129T>C Single submitter
c.1987-165T>G Single submitter
c.1987-166A>C Single submitter
c.1987-4G>T Single submitter
c.2057+17T>A Single submitter FGFR2-related craniosynostosis
c.2057+220A>T Single submitter
c.2057+9CT[2] Single submitter FGFR2-related craniosynostosis
c.2196-11A>G Single submitter FGFR2-related craniosynostosis
c.2196-19G>A Single submitter FGFR2-related craniosynostosis
c.2196-5C>T Single submitter FGFR2-related craniosynostosis
c.2301+1196G>A Single submitter
c.2301+1319C>T Single submitter
c.2301+1501C>T Single submitter
c.2301+1526A>G Single submitter
c.2301+494C>T Single submitter
c.2302-1025T>G Single submitter
c.2302-15C>T Single submitter FGFR2-related craniosynostosis
c.2302-1734A>G Single submitter
c.2302-17C>T Single submitter FGFR2-related craniosynostosis
c.2302-1807_2302-1806insAAAAAAA Single submitter
c.2302-1811_2302-1807dup Single submitter
c.2302-219C>A Single submitter
c.376+12C>T Single submitter
c.376+13G>A Single submitter
c.376+15C>T Single submitter FGFR2-related craniosynostosis
c.376+20C>A Single submitter FGFR2-related craniosynostosis
c.376+259_376+261dup Single submitter
c.376+261del Single submitter
c.377-10T>C Single submitter
c.377-12T>G Single submitter FGFR2-related craniosynostosis
c.377-6A>G Single submitter FGFR2-related craniosynostosis
c.377-6A>T Single submitter
c.377-7C>T Single submitter FGFR2-related craniosynostosis
c.454+107G>A Single submitter
c.455-20_455-15del Single submitter FGFR2-related craniosynostosis
c.455-242G>A Single submitter
c.455-9C>T Single submitter FGFR2-related craniosynostosis
c.624+70dup Single submitter
c.624+7T>A Single submitter FGFR2-related craniosynostosis
c.625-8C>A Single submitter FGFR2-related craniosynostosis
c.748+10C>T Single submitter FGFR2-related craniosynostosis
c.748+14T>A Single submitter FGFR2-related craniosynostosis
c.748+15C>T Single submitter FGFR2-related craniosynostosis
c.748+16C>T Single submitter FGFR2-related craniosynostosis
c.748+182G>A Single submitter
c.748+7T>C Single submitter FGFR2-related craniosynostosis
c.749-10T>A Single submitter FGFR2-related craniosynostosis
c.749-11C>G Single submitter FGFR2-related craniosynostosis
c.749-12TC[2] Single submitter FGFR2-related craniosynostosis
c.749-15C>T Single submitter
c.749-19dup Single submitter FGFR2-related craniosynostosis
c.749-4C>A Single submitter
c.939+11T>A Single submitter FGFR2-related craniosynostosis
c.939+982C>T Single submitter
c.940-12C>T Single submitter FGFR2-related craniosynostosis
c.940-36C>T Single submitter
c.940-4C>G Single submitter FGFR2-related craniosynostosis
c.940-9G>A Single submitter FGFR2-related craniosynostosis
c.-150-132G>A Single submitter
c.-151+19G>T Single submitter
c.-3A>C Single submitter
c.*183C>G Single submitter
c.*283A>G Single submitter
p.Ala171= Single submitter FGFR2-related craniosynostosis
p.Ala181= Single submitter FGFR2-related craniosynostosis
p.Ala260= Single submitter
p.Ala315= Single submitter FGFR2-related craniosynostosis
p.Ala337= Single submitter
p.Ala414= Single submitter FGFR2-related craniosynostosis
p.Ala511= Single submitter FGFR2-related craniosynostosis
p.Ala618= Single submitter
p.Ala97= Single submitter FGFR2-related craniosynostosis
p.Arg330= Single submitter FGFR2-related craniosynostosis
p.Asn194= Single submitter FGFR2-related craniosynostosis
p.Asn297= Single submitter FGFR2-related craniosynostosis
p.Asn638= Single submitter
p.Asn816= Single submitter FGFR2-related craniosynostosis
p.Asp273= Single submitter FGFR2-related craniosynostosis
p.Cys62= Single submitter FGFR2-related craniosynostosis
p.Cys808= Single submitter FGFR2-related craniosynostosis
p.Cys9= Single submitter FGFR2-related craniosynostosis
p.Gln46= Single submitter FGFR2-related craniosynostosis
p.Gln752= Single submitter FGFR2-related craniosynostosis
p.Glu197= Single submitter FGFR2-related craniosynostosis
p.Glu219= Single submitter FGFR2-related craniosynostosis
p.Glu56= Single submitter FGFR2-related craniosynostosis
p.Glu565= Single submitter FGFR2-related craniosynostosis
p.Gly103= Single submitter
p.Gly364= Single submitter FGFR2-related craniosynostosis
p.Gly384= Single submitter FGFR2-related craniosynostosis
p.Gly462= Single submitter FGFR2-related craniosynostosis
p.Gly552= Single submitter FGFR2-related craniosynostosis
p.Gly76= Single submitter FGFR2-related craniosynostosis
p.His741= Single submitter FGFR2-related craniosynostosis
p.Ile240= Single submitter FGFR2-related craniosynostosis
p.Ile383Thr Single submitter Inborn genetic diseases
p.Ile388= Single submitter FGFR2-related craniosynostosis
p.Leu306= Single submitter
p.Leu327= Single submitter
p.Leu397= Single submitter FGFR2-related craniosynostosis
p.Leu418= Single submitter FGFR2-related craniosynostosis
p.Leu444= Single submitter FGFR2-related craniosynostosis
p.Leu610= Single submitter FGFR2-related craniosynostosis
p.Lys279= Single submitter FGFR2-related craniosynostosis
p.Lys367Glu Single submitter FGFR2-related craniosynostosis
p.Lys65Glu Single submitter FGFR2-related craniosynostosis
p.Lys74= Single submitter FGFR2-related craniosynostosis
p.Phe676= Single submitter FGFR2-related craniosynostosis
p.Phe697= Single submitter FGFR2-related craniosynostosis
p.Pro180= Single submitter
p.Pro180Ser Single submitter Apert syndrome ⚠
p.Pro38= Single submitter FGFR2-related craniosynostosis
p.Pro47= Single submitter FGFR2-related craniosynostosis
p.Pro672= Single submitter FGFR2-related craniosynostosis
p.Pro703= Single submitter FGFR2-related craniosynostosis
p.Ser129= Single submitter FGFR2-related craniosynostosis
p.Ser130= Single submitter FGFR2-related craniosynostosis
p.Ser239= Single submitter FGFR2-related craniosynostosis
p.Ser252= Single submitter FGFR2-related craniosynostosis
p.Ser372= Single submitter FGFR2-related craniosynostosis
p.Ser411= Single submitter FGFR2-related craniosynostosis
p.Ser431= Single submitter FGFR2-related craniosynostosis
p.Ser434= Single submitter FGFR2-related craniosynostosis
p.Ser464= Single submitter FGFR2-related craniosynostosis
p.Ser780= Single submitter FGFR2-related craniosynostosis
p.Thr157= Single submitter FGFR2-related craniosynostosis
p.Thr32= Single submitter FGFR2-related craniosynostosis
p.Thr341= Single submitter FGFR2-related craniosynostosis
p.Thr403= Single submitter FGFR2-related craniosynostosis
p.Thr442= Single submitter FGFR2-related craniosynostosis
p.Thr454Met Single submitter FGFR2-related craniosynostosis ⚠
p.Thr482= Single submitter FGFR2-related craniosynostosis
p.Thr661= Single submitter FGFR2-related craniosynostosis
p.Thr749= Single submitter
p.Tyr308= Single submitter FGFR2-related craniosynostosis
p.Tyr328= Single submitter FGFR2-related craniosynostosis
p.Tyr50= Single submitter FGFR2-related craniosynostosis
p.Val175= Single submitter FGFR2-related craniosynostosis
p.Val269= Single submitter FGFR2-related craniosynostosis
p.Val270= Single submitter FGFR2-related craniosynostosis
p.Val277= Single submitter
p.Val280= Single submitter FGFR2-related craniosynostosis
p.Val393= Single submitter FGFR2-related craniosynostosis
p.Val415= Single submitter FGFR2-related craniosynostosis
p.Val495= Single submitter FGFR2-related craniosynostosis
p.Val512= Single submitter FGFR2-related craniosynostosis
p.Val77= Single submitter FGFR2-related craniosynostosis
p.Val86= Single submitter FGFR2-related craniosynostosis
c.2301+1512dup No assertion criteria FGFR2-related disorder
c.749-6590C>T No assertion criteria FGFR2-related disorder
c.-7C>T No assertion criteria FGFR2-related disorder
c.*255C>T No assertion criteria FGFR2-related disorder
c.*282A>G No assertion criteria FGFR2-related disorder
p.Gln285= No assertion criteria FGFR2-related disorder
p.Gly336= No assertion criteria FGFR2-related disorder
p.Pro477= No assertion criteria FGFR2-related disorder
p.Thr331= No assertion criteria FGFR2-related disorder

Uncertain significance 388

Showing the top 300 by review status; the full set is in the sitemap.

c.1085-6A>G Multiple submitters Saethre-Chotzen syndrome
c.1561+6C>T Multiple submitters Jackson-Weiss syndrome
c.1562-9_1562-7delinsAA Multiple submitters Apert syndrome
c.454+3A>G Multiple submitters FGFR2-related craniosynostosis
c.-108C>T Multiple submitters Isolated Coronal Synostosis
c.-17G>C Multiple submitters Apert syndrome
c.*1369C>T Multiple submitters Beare-Stevenson cutis gyrata syndrome
p.Ala140Thr Multiple submitters FGFR2-related craniosynostosis ⚠
p.Ala140Val Multiple submitters Apert syndrome ⚠
p.Ala266Pro Multiple submitters FGFR2-related craniosynostosis ⚠
p.Ala362Val Multiple submitters FGFR2-related craniosynostosis ⚠
p.Ala389Val Multiple submitters FGFR2-related craniosynostosis ⚠
p.Ala414Thr Multiple submitters Crouzon syndrome ⚠
p.Ala511Ser Multiple submitters FGFR2-related craniosynostosis ⚠
p.Ala567Thr Multiple submitters FGFR2-related craniosynostosis ⚠
p.Ala68Thr Multiple submitters FGFR2-related craniosynostosis ⚠
p.Ala68Val Multiple submitters FGFR2-related craniosynostosis ⚠
p.Arg100Gly Multiple submitters FGFR2-related craniosynostosis ⚠
p.Arg165Gln Multiple submitters FGFR2-related craniosynostosis ⚠
p.Arg178Cys Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Arg190Gln Multiple submitters FGFR2-related craniosynostosis ⚠
p.Arg203His Multiple submitters FGFR2-related craniosynostosis ⚠
p.Arg330Trp Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Arg421His Multiple submitters FGFR2-related craniosynostosis ⚠
p.Arg61Cys Multiple submitters FGFR2-related craniosynostosis ⚠
p.Arg6His Multiple submitters FGFR2-related craniosynostosis ⚠
p.Asn241Ser Multiple submitters FGFR2-related craniosynostosis ⚠
p.Asn402Ser Multiple submitters FGFR2-related craniosynostosis ⚠
p.Asn546Thr Multiple submitters Apert syndrome ⚠
p.Asn662Ser Multiple submitters Apert syndrome ⚠
p.Asn730Ser Multiple submitters FGFR2-related craniosynostosis ⚠
p.Asp126Asn Multiple submitters FGFR2-related craniosynostosis ⚠
p.Asp304Asn Multiple submitters FGFR2-related craniosynostosis ⚠
p.Cys62Phe Multiple submitters FGFR2-related craniosynostosis ⚠
p.Glu48Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu731Lys Multiple submitters FGFR2-related craniosynostosis ⚠
p.Gly139Ser Multiple submitters FGFR2-related craniosynostosis ⚠
p.Gly182Trp Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Gly195Arg Multiple submitters FGFR2-related craniosynostosis ⚠
p.Gly261Arg Multiple submitters Apert syndrome ⚠
p.Gly302Arg Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Gly583Ala Multiple submitters FGFR2-related craniosynostosis ⚠
p.Gly96Asp Multiple submitters Inborn genetic diseases ⚠
p.His293Tyr Multiple submitters FGFR2-related craniosynostosis
p.Ile815fs Multiple submitters Pfeiffer syndrome
p.Leu258Phe Multiple submitters FGFR2-related craniosynostosis ⚠
p.Leu451Val Multiple submitters FGFR2-related craniosynostosis ⚠
p.Leu483Pro Multiple submitters FGFR2-related craniosynostosis ⚠
p.Lys41Arg Multiple submitters ⚠
p.Lys601Arg Multiple submitters FGFR2-related craniosynostosis ⚠
p.Lys751Gln Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Met121Thr Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Met15Val Multiple submitters FGFR2-related craniosynostosis ⚠
p.Met438Thr Multiple submitters bent bone dysplasia syndrome 1
p.Met693Thr Multiple submitters FGFR2-related craniosynostosis ⚠
p.Met693Val Multiple submitters Apert syndrome
p.Phe409Val Multiple submitters FGFR2-related craniosynostosis ⚠
p.Pro23Thr Multiple submitters Apert syndrome ⚠
p.Pro263Leu Multiple submitters FGFR2-related craniosynostosis ⚠
p.Pro373Ser Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Pro413Leu Multiple submitters FGFR2-related craniosynostosis ⚠
p.Pro443Ala Multiple submitters FGFR2-related craniosynostosis
p.Pro443Leu Multiple submitters Crouzon syndrome ⚠
p.Pro54Ser Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Pro744Ser Multiple submitters FGFR2-related craniosynostosis ⚠
p.Pro775Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro804Ser Multiple submitters FGFR2-related craniosynostosis ⚠
p.Ser115Asn Multiple submitters FGFR2-related disorder ⚠
p.Thr157Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr320Met Multiple submitters ⚠
p.Thr442Ile Multiple submitters FGFR2-related craniosynostosis ⚠
p.Thr448Ala Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Thr749Ala Multiple submitters FGFR2-related craniosynostosis ⚠
p.Thr98Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr50Phe Multiple submitters FGFR2-related craniosynostosis ⚠
p.Tyr616Cys Multiple submitters Inborn genetic diseases ⚠
p.Val463Asp Multiple submitters FGFR2-related craniosynostosis ⚠
p.Val496Ile Multiple submitters bent bone dysplasia syndrome 1 ⚠
p.Val686Ile Multiple submitters FGFR2-related craniosynostosis ⚠
p.Val86Gly Multiple submitters bent bone dysplasia syndrome 1 ⚠
c.1084+4T>C Single submitter FGFR2-related craniosynostosis
c.1085-3T>C Single submitter FGFR2-related craniosynostosis
c.109+906_109+907inv Single submitter FGFR2-related craniosynostosis
c.1287+1G>T Single submitter FGFR2-related craniosynostosis
c.1287+2A>G Single submitter FGFR2-related craniosynostosis
c.1562-8_1562-6dup Single submitter
c.1562-9_1562-8delinsAA Single submitter FGFR2-related craniosynostosis
c.1673-4A>C Single submitter
c.1864-9T>G Single submitter FGFR2-related disorder
c.1986+19C>G Single submitter bent bone dysplasia syndrome 1
c.2301+5G>C Single submitter FGFR2-related craniosynostosis
c.2302-4T>C Single submitter FGFR2-related craniosynostosis
c.625-8C>T Single submitter Saethre-Chotzen syndrome
c.748+7T>G Single submitter linear nevus sebaceous syndrome
c.749-6576_749-6572del Single submitter
c.749-6576T>G Single submitter FGFR2-related disorder
c.939+5G>T Single submitter
c.-128G>A Single submitter Beare-Stevenson cutis gyrata syndrome
c.-129C>T Single submitter Beare-Stevenson cutis gyrata syndrome
c.-165G>A Single submitter Beare-Stevenson cutis gyrata syndrome
c.-173G>A Single submitter Saethre-Chotzen syndrome
c.-196G>A Single submitter Saethre-Chotzen syndrome
c.-206C>A Single submitter Saethre-Chotzen syndrome
c.-237C>A Single submitter Saethre-Chotzen syndrome
c.-371C>T Single submitter Beare-Stevenson cutis gyrata syndrome
c.-535G>C Single submitter Beare-Stevenson cutis gyrata syndrome
c.-590G>C Single submitter Beare-Stevenson cutis gyrata syndrome
c.-603C>T Single submitter Beare-Stevenson cutis gyrata syndrome
c.-622G>A Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1070T>C Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1126T>C Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1240A>C Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1283C>G Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1287A>C Single submitter Saethre-Chotzen syndrome
c.*1402T>C Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1489C>T Single submitter Beare-Stevenson cutis gyrata syndrome
c.*1539C>A Single submitter Isolated Coronal Synostosis
c.*1A>G Single submitter
c.*256G>A Single submitter Saethre-Chotzen syndrome
c.*463A>G Single submitter Isolated Coronal Synostosis
c.*497T>C Single submitter Beare-Stevenson cutis gyrata syndrome
c.*730G>C Single submitter Beare-Stevenson cutis gyrata syndrome
c.*874A>G Single submitter Saethre-Chotzen syndrome
c.*921G>A Single submitter Isolated Coronal Synostosis
p.Ala106= Single submitter
p.Ala109Asp Single submitter
p.Ala127Gly Single submitter ⚠
p.Ala16Thr Single submitter Inborn genetic diseases ⚠
p.Ala337Thr Single submitter Common craniosynostosis syndromes ⚠
p.Ala355Val Single submitter FGFR2-related craniosynostosis ⚠
p.Ala362Thr Single submitter FGFR2-related craniosynostosis ⚠
p.Ala371Val Single submitter FGFR2-related craniosynostosis ⚠
p.Ala389Thr Single submitter ⚠
p.Ala498Val Single submitter FGFR2-related craniosynostosis ⚠
p.Ala511Thr Single submitter FGFR2-related craniosynostosis ⚠
p.Ala53Val Single submitter ⚠
p.Ala567Val Single submitter craniosynostosis ⚠
p.Ala618Thr Single submitter Inborn genetic diseases ⚠
p.Ala629Val Single submitter
p.Ala68= Single submitter Saethre-Chotzen syndrome
p.Ala726Gly Single submitter Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis ⚠
p.Arg100Lys Single submitter FGFR2-related craniosynostosis ⚠
p.Arg152Ile Single submitter ⚠
p.Arg178His Single submitter FGFR2-related craniosynostosis
p.Arg178Leu Single submitter FGFR2-related craniosynostosis ⚠
p.Arg210Gly Single submitter ⚠
p.Arg210Ter Single submitter FGFR2-related craniosynostosis
p.Arg22Gln Single submitter FGFR2-related craniosynostosis ⚠
p.Arg251Ter Single submitter FGFR2-related craniosynostosis
p.Arg255Trp Single submitter Pfeiffer syndrome ⚠
p.Arg421Cys Single submitter Inborn genetic diseases
p.Arg426Lys Single submitter
p.Arg426Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Arg450His Single submitter ⚠
p.Arg573Gln Single submitter ⚠
p.Arg579Trp Single submitter Jackson-Weiss syndrome ⚠
p.Arg737Thr Single submitter
p.Arg747Ile Single submitter bent bone dysplasia syndrome 1 ⚠
p.Arg759Gln Single submitter bent bone dysplasia syndrome 1 ⚠
p.Asn150Lys Single submitter Inborn genetic diseases ⚠
p.Asn184Lys Single submitter FGFR2-related craniosynostosis ⚠
p.Asn331Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Asn346= Single submitter FGFR2-related craniosynostosis
p.Asn346Lys Single submitter FGFR2-related craniosynostosis ⚠
p.Asn350Ser Single submitter Apert syndrome
p.Asn441His Single submitter FGFR2-related craniosynostosis ⚠
p.Asn549Ile Single submitter FGFR2-related craniosynostosis ⚠
p.Asn549Ser Single submitter Inborn genetic diseases ⚠
p.Asn591Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Asn631Asp Single submitter ⚠
p.Asn638Lys Single submitter FGFR2-related craniosynostosis ⚠
p.Asn653His Single submitter bent bone dysplasia syndrome 1 ⚠
p.Asn727Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Asn82Lys Single submitter ⚠
p.Asn82Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Asn83Ile Single submitter bent bone dysplasia syndrome 1
p.Asp132His Single submitter ⚠
p.Asp273_Val274insAsp Single submitter
p.Asp374Asn Single submitter FGFR2-related craniosynostosis ⚠
p.Asp456Gly Single submitter bent bone dysplasia syndrome 1 ⚠
p.Asp504Glu Single submitter FGFR2-related craniosynostosis ⚠
p.Asp522Val Single submitter ⚠
p.Asp650Val Single submitter FGFR2-related craniosynostosis ⚠
p.Asp738Asn Single submitter FGFR2-related craniosynostosis ⚠
p.Asp75Tyr Single submitter ⚠
p.Asp771Asn Single submitter FGFR2-related craniosynostosis ⚠
p.Cys398Tyr Single submitter FGFR2-related craniosynostosis ⚠
p.Cys554Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Cys790Arg Single submitter ⚠
p.Cys790Tyr Single submitter FGFR2-related craniosynostosis
p.Cys808Arg Single submitter
p.Cys808Trp Single submitter FGFR2-related craniosynostosis ⚠
p.Gln259His Single submitter ⚠
p.Gln43His Single submitter FGFR2-related craniosynostosis ⚠
p.Gln43Lys Single submitter FGFR2-related craniosynostosis ⚠
p.Gln46Glu Single submitter Inborn genetic diseases ⚠
p.Gln494Arg Single submitter FGFR2-related craniosynostosis ⚠
p.Gln494His Single submitter FGFR2-related craniosynostosis ⚠
p.Gln811Lys Single submitter FGFR2-related craniosynostosis ⚠
p.Gln811Ter Single submitter FGFR2-related craniosynostosis
p.Glu141Gly Single submitter ⚠
p.Glu197Gln Single submitter ⚠
p.Glu250Gly Single submitter FGFR2-related craniosynostosis ⚠
p.Glu275Gln Single submitter FGFR2-related craniosynostosis ⚠
p.Glu325Lys Single submitter ⚠
p.Glu36= Single submitter FGFR2-related craniosynostosis
p.Glu37Gln Single submitter ⚠
p.Glu433Asp Single submitter FGFR2-related craniosynostosis ⚠
p.Glu465Gly Single submitter Inborn genetic diseases ⚠
p.Glu525Val Single submitter ⚠
p.Glu574_Arg577del Single submitter
p.Glu585Gln Single submitter FGFR2-related craniosynostosis ⚠
p.Glu636Gly Single submitter bent bone dysplasia syndrome 1 ⚠
p.Glu718Gln Single submitter Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis ⚠
p.Glu718Lys Single submitter FGFR2-related craniosynostosis ⚠
p.Glu777Lys Single submitter FGFR2-related craniosynostosis
p.Gly182Arg Single submitter ⚠
p.Gly298Asp Single submitter Inborn genetic diseases ⚠
p.Gly298Cys Single submitter FGFR2-related craniosynostosis ⚠
p.Gly305Arg Single submitter ⚠
p.Gly305Val Single submitter ⚠
p.Gly316Glu Single submitter
p.Gly338_Glu339insIle Single submitter FGFR2-related craniosynostosis
p.Gly338Lys Single submitter FGFR2-related craniosynostosis
p.Gly345Asp Single submitter FGFR2-related craniosynostosis ⚠
p.Gly690= Single submitter
p.Gly701Cys Single submitter ⚠
p.Gly817Ser Single submitter ⚠
p.Gly96Cys Single submitter
p.His353Leu Single submitter FGFR2-related craniosynostosis ⚠
p.His544Gln Single submitter FGFR2-related craniosynostosis ⚠
p.His682Arg Single submitter Saethre-Chotzen syndrome ⚠
p.Ile204Val Single submitter bent bone dysplasia syndrome 1 ⚠
p.Ile339Met Single submitter bent bone dysplasia syndrome 1
p.Ile348Val Single submitter FGFR2-related craniosynostosis ⚠
p.Ile541Met Single submitter ⚠
p.Ile563Val Single submitter FGFR2-related craniosynostosis ⚠
p.Ile654Thr Single submitter FGFR2-related craniosynostosis ⚠
p.Ile654Val Single submitter Apert syndrome ⚠
p.Ile815Val Single submitter Inborn genetic diseases ⚠
p.Ile8Val Single submitter Inborn genetic diseases ⚠
p.Leu306Val Single submitter Inborn genetic diseases ⚠
p.Leu357Val Single submitter ⚠
p.Leu360Val Single submitter ⚠
p.Leu418Val Single submitter bent bone dysplasia syndrome 1 ⚠
p.Leu483Gln Single submitter ⚠
p.Leu531= Single submitter
p.Leu603Ter Single submitter
p.Leu633fs Single submitter
p.Leu715= Single submitter
p.Leu732= Single submitter FGFR2-related craniosynostosis
p.Leu732Met Single submitter ⚠
p.Leu79Trp Single submitter bent bone dysplasia syndrome 1 ⚠
p.Lys151Asn Single submitter Inborn genetic diseases ⚠
p.Lys226Arg Single submitter ⚠
p.Lys322Arg Single submitter Inborn genetic diseases ⚠
p.Lys322Glu Single submitter FGFR2-related craniosynostosis ⚠
p.Lys509Arg Single submitter FGFR2-related craniosynostosis ⚠
p.Lys539Arg Single submitter ⚠
p.Lys65= Single submitter bent bone dysplasia syndrome 1
p.Met121Arg Single submitter FGFR2-related craniosynostosis ⚠
p.Met121Val Single submitter FGFR2-related craniosynostosis ⚠
p.Met15Leu Single submitter bent bone dysplasia syndrome 1 ⚠
p.Met1Val Single submitter
p.Met391Ile Single submitter ⚠
p.Met400Ile Single submitter bent bone dysplasia syndrome 1 ⚠
p.Met459Leu Single submitter ⚠
p.Met535Leu Single submitter FGFR2-related craniosynostosis ⚠
p.Met535Thr Single submitter FGFR2-related disorder ⚠
p.Met540Val Single submitter ⚠
p.Met584Val Single submitter FGFR2-related craniosynostosis ⚠
p.Met614Val Single submitter bent bone dysplasia syndrome 1 ⚠
p.Met734Leu Single submitter ⚠
p.Met735Ile Single submitter Inborn genetic diseases
p.Phe25Ser Single submitter FGFR2-related craniosynostosis ⚠
p.Phe328Leu Single submitter
p.Phe334Tyr Single submitter ⚠
p.Phe600= Single submitter bent bone dysplasia syndrome 1
p.Pro185Leu Single submitter Inborn genetic diseases ⚠
p.Pro187Arg Single submitter ⚠
p.Pro23Ala Single submitter ⚠
p.Pro23His Single submitter bent bone dysplasia syndrome 1
p.Pro256Ala Single submitter ⚠
p.Pro263Arg Single submitter FGFR2-related craniosynostosis ⚠
p.Pro303Arg Single submitter FGFR2-related craniosynostosis ⚠
p.Pro303Thr Single submitter ⚠
p.Pro39Arg Single submitter ⚠
p.Pro407Leu Single submitter ⚠
p.Pro423Ser Single submitter ⚠
p.Pro443Arg Single submitter bent bone dysplasia syndrome 1 ⚠
p.Pro458Thr Single submitter bent bone dysplasia syndrome 1 ⚠
p.Pro594Ala Single submitter ⚠
p.Pro666Ala Single submitter FGFR2-related disorder ⚠
p.Pro703Leu Single submitter Inborn genetic diseases ⚠
p.Pro708Leu Single submitter ⚠
p.Pro708Thr Single submitter LADD syndrome 1 ⚠
p.Pro744Leu Single submitter bent bone dysplasia syndrome 1 ⚠
p.Pro775Ser Single submitter ⚠
p.Pro781Arg Single submitter ⚠
p.Pro784Leu Single submitter ⚠