|(G;G)||0||common in complete genomics|
[PMID 19306327] This SNP has been reported to be associated with primary vesicoureteric reflux (pVUR) patients in Quebec, but it was not found in a study of 221 unrelated index cases of pVUR from the Irish population or in 190 full siblings of 160 of the index cases.
|Disease Association||Defects in RET are a cause of congenital central hypoventilation syndrome (CCHS) (MIM:209880); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.|
[PMID 16385451] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 18273880] RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 19138047] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
[PMID 20532249] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
[PMID 23059849] Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 24897126] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
|Disease||No MEN2 disease not provided not specified Hereditary cancer-predisposing syndrome Renal adysplasia Hirschsprung Disease Pheochromocytoma Multiple endocrine neoplasia|
|CLNDBN||No MEN2 disease not provided not specified Hereditary cancer-predisposing syndrome Renal adysplasia Hirschsprung Disease, Dominant Pheochromocytoma Multiple endocrine neoplasia|
|CLNSRC||HGMD UniProtKB (protein)|
|CLNACC||RCV000021841.1, RCV000034769.3, RCV000039052.9, RCV000162947.1, RCV000290703.1, RCV000340996.1, RCV000376859.1, RCV000385080.1,|
[PMID 27798940] Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.
[PMID 28946813] Nationwide French study of RET variants detected from 2003 to 2013 suggests a possible influence of polymorphisms as modifiers.