ClinVar Miner

List of variants studied for non-syndromic polydactyly by MGZ Medical Genetics Center

Included ClinVar conditions (43):

Abnormal facial shape; Intellectual disability; Postaxial polydactyly
Acheiropodia; Laurin-Sandrow syndrome; Polydactyly of a triphalangeal thumb; Syndactyly type 4; Tibia, hypoplasia or aplasia of, with polydactyly; Triphalangeal thumb-polysyndactyly syndrome
Brachydactyly type E1; Brachydactyly type D; Syndactyly type 5; Brachydactyly-syndactyly syndrome; Synpolydactyly type 1
Brachydactyly type E1; Brachydactyly type D; Syndactyly type 5; Synpolydactyly type 1
Brachydactyly; Polydactyly, postaxial, type A1; Syndactyly; Retinal degeneration
Cerebellar ataxia; Spasticity; Nystagmus; Strabismus; Postaxial hand polydactyly; Postaxial foot polydactyly; Ventriculomegaly
Clubfoot; Encephalocele; Polydactyly, postaxial, type A1; Polycystic kidney disease; Oligohydramnios; Microcephaly; Narrow chest
Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Penile hypospadias; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve
Delayed speech and language development; Postaxial polydactyly
Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypic movement disorder; Abnormal facial shape; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Short philtrum; Abnormality of eye movement; Impaired social interactions; Polydactyly of a biphalangeal thumb; Decreased fetal movement; Broad toe; Generalized non-motor (absence) seizure; Ankle flexion contracture; Reduced visual acuity; Hypoplastic helices; 1-2 finger cutaneous syndactyly; Intellectual disability, severe; Severe global developmental delay; Gastrostomy tube feeding in infancy; Thick vermilion border
Greig cephalopolysyndactyly syndrome; Hamartoma of hypothalamus; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome; Polydactyly, postaxial, type A1
Hyperreflexia; Ptosis; Postaxial hand polydactyly; Umbilical hernia; Babinski sign; Polysyndactyly of hallux; Basilar invagination; Short palpebral fissure
Hypertelorism; Bilateral cleft lip and palate; Low-set ears; Premature birth; Wide intermamillary distance; Hypoplasia of scrotum; Postaxial hand polydactyly; Camptodactyly of finger
Hypertelorism; Triphalangeal thumb; Global developmental delay; Motor delay; Low-set ears; Anteriorly placed anus; Broad forehead; Broad hallux; Delayed speech and language development; Frontal bossing; High forehead; Joint hypermobility; Bilateral triphalangeal thumbs; Finger syndactyly
Hypogonadotropic hypogonadism 7 with or without anosmia; Obesity; Downslanted palpebral fissures; Narrow forehead; Round face; Specific learning disability; Micropenis; Rod-cone dystrophy; Postaxial hand polydactyly; Flat nasal alae
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Polycystic kidney disease; Intellectual disability; Emphysema; Reduced renal corticomedullary differentiation; Neurodevelopmental delay; Postaxial polydactyly
Polydactyly of a biphalangeal thumb
Polydactyly of a triphalangeal thumb
Polydactyly, postaxial, type A1
Polydactyly, postaxial, type A1; Abnormal cardiovascular system morphology; Visual impairment; Inability to walk
Polydactyly, postaxial, type A1; Abnormal nail morphology; Ridged nail; Bifid nail
Polydactyly, postaxial, type A1; Nephrocalcinosis
Polydactyly, postaxial, type A6
Polydactyly, postaxial, type A8
Polydactyly, postaxial, type A9
Polydactyly, postaxial, type a10
Polydactyly, postaxial, type a7
Polysyndactyly 4
Postaxial polydactyly
Postaxial polydactyly type A
Postaxial polydactyly type B
Postaxial polydactyly type B; Postaxial polydactyly type A
Precocious puberty; Overgrowth; Macrocephaly; Postaxial polydactyly
Retinal dystrophy; Macular degeneration; Postaxial hand polydactyly; Intellectual disability; Foot polydactyly; High-frequency hearing impairment
Synpolydactyly type 1
Synpolydactyly type 1; Brachydactyly; Chondrodysplasia; clino-symphalangism; overriding digits
Synpolydactyly type 2
Triphalangeal thumb

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)	rs121917714
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)	rs587777620
NM_005027.4(PIK3R2):c.496G>C (p.Asp166His)
NM_005269.3(GLI1):c.877C>T (p.Arg293Cys)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.