ClinVar Miner

List of variants in gene combination LOC129998021, TWIST1 reported as likely pathogenic for acrocephalosyndactyly

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)	rs1585616948
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile)	rs1788580077
NM_000474.4(TWIST1):c.454G>C (p.Ala152Pro)	rs754179756
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)	rs1554441982
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)	rs104894059
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu)	rs2115396574
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu)	rs2115396572
NM_000474.4(TWIST1):c.475C>G (p.Leu159Val)	rs1563159945
NM_000474.4(TWIST1):c.476T>A (p.Leu159His)	rs1585616825

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