Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Leu633Val (p.L633V)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Leu633Val (p.L633V) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma pheochromocytoma multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1897C>G (p.Leu633Val) AND multiple conditions
- ClinVar Allele ID
- 38399
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1501C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.448C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.712C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1000C>G
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1459C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.907C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.871C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.712C>G
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1135C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.871C>G
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1609C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1768C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1768C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1000C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.448C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1000C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1000C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1372C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.880C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1171C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1171C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1501C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1459C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.712C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.592C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1609C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1171C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.448C>G
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1609C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1768C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1171C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002503784
- 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