ClinVar Miner

List of variants reported as pathogenic for acrocephalopolysyndactyly by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (13):

Acrocephalosyndactyly
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Neoplasm of stomach; Bent bone dysplasia syndrome 1
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer; LADD syndrome 1
Acrocephalosyndactyly type I; Pfeiffer syndrome; Crouzon syndrome
Carpenter syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
MEGF8-related Carpenter syndrome
Pfeiffer syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 3
RAB23-related Carpenter syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)	rs121918495
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)	rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)	rs121918488
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)	rs121918488
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	rs121918502
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)	rs121918505
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)	rs776587763
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)	rs121918497
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)	rs121918499
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	rs121918499
NM_000141.5(FGFR2):c.940-2A>G	rs1057519041
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)	rs121918510

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