Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ser649Leu (p.S649L)
(
ENST00000355710.8,
ENST00000340058.6,
ENST00000615310.5,
ENST00000713926.1 )
RET p.Ser649Leu (p.S649L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- pheochromocytoma
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Pheochromocytoma
- ClinVar Allele ID
- 36269
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1049C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1049C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1658C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1817C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1658C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1049C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.761C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1946C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1817C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.497C>T
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1946C>T
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1946C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1550C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1049C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1658C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.929C>T
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1946C>T
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1184C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1946C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.761C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1946C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.761C>T
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1946C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1946C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.920C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.920C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.956C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1550C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.497C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1220C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1220C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1220C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1817C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1421C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.641C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.497C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1220C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-05-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001104573
- ClinVar Disease
- Pheochromocytoma
- Observed Origin Sample
- germline
Drugs