ClinVar Miner

List of variants reported as likely pathogenic for acrocephalopolysyndactyly by Fulgent Genetics, Fulgent Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	rs1057519044
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	rs121918506
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	rs121909641
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)	rs1554570813
NM_023110.3(FGFR1):c.448+1G>A	rs376416531
NM_023110.3(FGFR1):c.448+1G>C	rs376416531
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)	rs727505369

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