Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Lys666Glu (p.K666E)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Lys666Glu (p.K666E) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hirschsprung disease, susceptibility to, 1 familial medullary thyroid carcinoma multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2A pheochromocytoma
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions
- ClinVar Allele ID
- 36272
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1270A>G
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1996A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1600A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1270A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1270A>G
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1996A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.811A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1006A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1471A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1270A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.979A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1996A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1099A>G
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1996A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1708A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.970A>G
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1996A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1099A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.811A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1867A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.547A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1996A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1996A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1099A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.547A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1708A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.811A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1867A>G
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1234A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1867A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1708A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1996A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1600A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1099A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.970A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.547A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1558A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.691A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1558A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496436
- ClinVar Disease
- Familial medullary thyroid carcinoma
- ClinVar Disease
- Pheochromocytoma
- ClinVar Disease
- Multiple endocrine neoplasia type 2A
- ClinVar Disease
- Hirschsprung disease, susceptibility to, 1
- ClinVar Disease
- Multiple endocrine neoplasia type 2B
- Observed Origin Sample
- unknown
Drugs