Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Val804Met (p.V804M)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5 )
RET p.Ser904Cys (p.S904C) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Val804Met (p.V804M) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Ser904Cys (p.S904C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2B
- Source Database
- ClinVar
- Description
- NM_020975.4(RET):c.[2410G>A;2711C>G] AND Multiple endocrine neoplasia type 2B
- ClinVar Allele ID
- 28984
- ClinVar Allele ID
- 36303
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.2273C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2122G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.2273C>G
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1648G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1526C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1406C>G
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2410G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1526C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2275G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2582C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2582C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1684G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1684G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2576C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.2014G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.961G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2711C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2582C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1513G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.2315C>G
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2410G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1513G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2146G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1513G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1721C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.2014G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.1262C>G
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.2711C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1814C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.1262C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.1225G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1972G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.2186C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.1225G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.2281G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1393G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1814C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.2275G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.1105G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.2281G>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2410G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.2410G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.2315C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.2423C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.2281G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1814C>G
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2711C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2410G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1679C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1685C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2410G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1985C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.961G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2410G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1985C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1885G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1985C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1685C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1972G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.1694C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2423C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.1262C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1225G>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.2711C>G
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.2410G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1814C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2423C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.1384G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406787.1:c.1378G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.2711C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.1420G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.961G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.2711C>G
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1949C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1684G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1684G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.2711C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.2576C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.1384G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.2122G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.2122G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1985C>G
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.2711C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.1526C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1513G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.2447C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014972
- ClinVar Disease
- Multiple endocrine neoplasia type 2B
- Observed Origin Sample
- germline
- Pubmed
- 11788682
Drugs