ClinVar Miner

List of variants studied for acrocephalopolysyndactyly by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)	rs1049674573	0.00001
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
NM_001271938.2(MEGF8):c.7005+1G>T	rs1224632697
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
NM_016277.5(RAB23):c.467del (p.Leu156fs)

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