ClinVar Miner

List of variants reported as benign for acrocephalopolysyndactyly by Genome-Nilou Lab

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001271938.2(MEGF8):c.1933+27A>G	rs874002	0.73512
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=)	rs28621009	0.14431
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)	rs1040461	0.11850
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu)	rs1206038	0.08528
NM_001271938.2(MEGF8):c.1934-7T>C	rs1206044	0.08176
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=)	rs61995685	0.04463
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=)	rs149155949	0.04455
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=)	rs149279834	0.00602
NM_001271938.2(MEGF8):c.7136+12C>T	rs375712517

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