ClinVar Miner

List of variants studied for non-syndromic polydactyly by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	rs768933093	0.00005
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	rs200750564	0.00001
NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr)	rs1394450537	0.00001
NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys)	rs1048970120	0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	rs121918327	0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)	rs758361736	0.00001
NC_012920.1(MT-ATP6):m.8993T>G	rs199476133
NM_000523.4(HOXD13):c.709G>C (p.Gly237Arg)	rs1689365853
NM_001378615.1(CC2D2A):c.1149+1G>A	rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del	rs386833760
NM_004278.4(PIGL):c.176C>A (p.Pro59His)	rs1057518948
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005027.4(PIK3R2):c.1694C>A (p.Pro565Gln)	rs1131691683
NM_005027.4(PIK3R2):c.1809-3_1809-2insCCCCCCG	rs2043834247
NM_005027.4(PIK3R2):c.64_88dup (p.Val30fs)	rs2043673731

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