Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys634Tyr (p.C634Y)
(
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5,
ENST00000713926.1 )
RET p.Cys634Tyr (p.C634Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Multiple endocrine neoplasia type 2A
- ClinVar Allele ID
- 28948
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1505G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.452G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1004G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1004G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.875G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.452G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1463G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.875G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.716G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1139G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1463G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.716G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.452G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.911G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.884G>A
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1901G>A
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1613G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1613G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1175G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.716G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1004G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1004G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1175G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1175G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1613G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1505G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1175G>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1376G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.596G>A
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1901G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014924
- ClinVar Disease
- Multiple endocrine neoplasia type 2A
- Observed Origin Sample
- germline
- Observed Origin Sample
- somatic
- Observed Origin Sample
- unknown
- Pubmed
- 3078962
- Pubmed
- 7824936
- Pubmed
- 7914213
- Pubmed
- 12000816
- Pubmed
- 7907913
- Pubmed
- 8099202
Drugs