Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Leu790Phe (p.L790F)
(
ENST00000615310.5,
ENST00000355710.8,
ENST00000713926.1,
ENST00000340058.6 )
RET p.Leu790Phe (p.L790F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.2370G>C (p.Leu790Phe) AND Multiple endocrine neoplasia type 2A
- ClinVar Allele ID
- 28974
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2370G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2370G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1473G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1473G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.921G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1845G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1473G>C
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2370G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2106G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2082G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2082G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2370G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2082G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1185G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2370G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1644G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1344G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1644G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1644G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2370G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1644G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1185G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1185G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1065G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1932G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1338G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2241G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1344G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1974G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1932G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1380G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.921G>C
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2370G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1974G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2235G>C
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2370G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1473G>C
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1608G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2241G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1353G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2235G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2241G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.921G>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-04-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014960
- ClinVar Disease
- Multiple endocrine neoplasia type 2A
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9506724
Drugs