ClinVar Miner

List of variants reported as pathogenic for acrocephalosyndactyly by 3billion

Included ClinVar conditions (19):

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; 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; Beare-Stevenson cutis gyrata syndrome; Pfeiffer syndrome; Crouzon syndrome
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
Jackson-Weiss syndrome
MEGF8-related Carpenter syndrome
Pfeiffer syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 3
RAB23-related Carpenter syndrome
Saethre-Chotzen syndrome
TWIST1-related craniosynostosis; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome
TWIST1-related craniosynostosis; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome; Sweeney-Cox syndrome
TWIST1-related craniosynostosis; Saethre-Chotzen 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)	rs121918492	0.00001
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	rs121918506
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	rs77543610
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	rs121918499
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)	rs104894054
NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)	rs2486049984
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)	rs121909188
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)	rs778800284

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