Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592

2012
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Multiple endocrine neoplasias type 2B and RET proto-oncogene. 22429913

2012
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710

2011
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Update multiple endocrine neoplasia type 2. 20087666

2010
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690

2009
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Hirschsprung disease, associated syndromes and genetics: a review. 17965226

2008
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059

2007
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease. 9067749

1997
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 8918855

1996
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 7906417

1994
dbSNP: rs1554818540
rs1554818540
RET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 7881414

1994