ClinVar Miner

List of variants reported as likely pathogenic for Apert syndrome

Included ClinVar conditions (4):

Acrocephalosyndactyly type I
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; Pfeiffer syndrome; Crouzon syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	rs1057519044
NM_000141.5(FGFR2):c.1084+3A>G	rs879253721
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	rs121918506
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)	rs121918498
NM_000141.5:c.940-19_940-18insAlu

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