ClinVar Miner

List of variants in gene GDF2 reported as likely pathogenic for peripheral vascular disease

Included ClinVar conditions (20):

Generalized juvenile polyposis/juvenile polyposis coli; Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia
Primary erythromelalgia
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Generalized epilepsy with febrile seizures plus
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Paroxysmal extreme pain disorder
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 7
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Small fiber neuropathy
Systemic lupus erythematosus; Telangiectasia, hereditary hemorrhagic, type 1
Telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Telangiectasia, hereditary hemorrhagic, type 2
Telangiectasia, hereditary hemorrhagic, type 2; Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 5

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)	rs1486994359	0.00001
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln)	rs1443463485	0.00001
NM_016204.4(GDF2):c.1267G>A (p.Val423Met)	rs1358534877
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)	rs200330818

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