ClinVar Miner

List of variants in gene PDGFRA reported as pathogenic for small intestine disorder

Included ClinVar conditions (22):

Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1
Congenital short bowel syndrome
Congenital short bowel syndrome, autosomal recessive
Duodenal adenocarcinoma
Gastrointestinal stromal tumor
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 3
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4
Gastrointestinal stromal tumor; Hereditary pheochromocytoma-paraganglioma
Gastrointestinal stromal tumor; Idiopathic hypereosinophilic syndrome
Gastrointestinal stromal tumor; Mastocytosis
Gastrointestinal stromal tumor; Mastocytosis; Piebaldism; Malignant tumor of testis; Acute myeloid leukemia
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 1; Hereditary pheochromocytoma-paraganglioma; Paragangliomas 5
Gastrointestinal stromal tumor; Paragangliomas 3
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma
Gastrointestinal stromal tumor; Parathyroid gland adenoma; Thyroid adenoma; Chronic diarrhea; Diabetes mellitus; Hypertensive disorder
Gastrointestinal stromal tumor; Piebaldism
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis
Gastrointestinal stromal tumor; Piebaldism; Cutaneous mastocytosis
Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Periampullary adenoma

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_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del)	rs587776795
NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)	rs587776794
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp)	rs121908586
NM_006206.6(PDGFRA):c.1696_1713del (p.Ser566_Glu571del)	rs606231209
NM_006206.6(PDGFRA):c.1977C>A (p.Asn659Lys)	rs1057519700
NM_006206.6(PDGFRA):c.1977C>G (p.Asn659Lys)	rs1057519700
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val)	rs121908585
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del)	rs1553906053
NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del)	rs587776793

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