Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg694Trp (p.R694W)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Arg694Trp (p.R694W) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Multiple endocrine neoplasia, type 2
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.2080C>T (p.Arg694Trp) AND Multiple endocrine neoplasia, type 2
- ClinVar Allele ID
- 45388
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1183C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2080C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1183C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1183C>T
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2080C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1792C>T
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2080C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.1945C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1555C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1792C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2080C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2080C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.895C>T
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1318C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1183C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1792C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.1816C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1063C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.895C>T
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2080C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.895C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.631C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1642C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1642C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1054C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1048C>T
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2080C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1684C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1684C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1090C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.631C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1951C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1354C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1354C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1054C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1354C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.1945C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1951C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.775C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2080C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.631C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1951C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1354C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000698016
- ClinVar Disease
- Multiple endocrine neoplasia, type 2
- Observed Origin Sample
- germline
Drugs