Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Tyr806Cys (p.Y806C) ( ENST00000355710.8, ENST00000340058.6, ENST00000713926.1, ENST00000615310.5 )
RET p.Tyr806Cys (p.Y806C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
Multiple endocrine neoplasia, type 2
Source Database
ClinVar
Description
NM_020975.6(RET):c.2417A>G (p.Tyr806Cys) AND Multiple endocrine neoplasia, type 2
ClinVar Allele ID
36283
ClinVar RefSeq Alternation Syntax
NM_020630.7:c.2417A>G
ClinVar RefSeq Alternation Syntax
NM_001406794.1:c.968A>G
ClinVar RefSeq Alternation Syntax
NM_001406771.1:c.1979A>G
ClinVar RefSeq Alternation Syntax
NM_001406790.1:c.1232A>G
ClinVar RefSeq Alternation Syntax
NM_001406783.1:c.1391A>G
ClinVar RefSeq Alternation Syntax
NM_001406787.1:c.1385A>G
ClinVar RefSeq Alternation Syntax
NM_001406785.1:c.1400A>G
ClinVar RefSeq Alternation Syntax
NM_001406779.1:c.1520A>G
ClinVar RefSeq Alternation Syntax
NM_001406781.1:c.1520A>G
ClinVar RefSeq Alternation Syntax
NM_001406782.1:c.1520A>G
ClinVar RefSeq Alternation Syntax
NM_001406773.1:c.1979A>G
ClinVar RefSeq Alternation Syntax
NM_001355216.2:c.1655A>G
ClinVar RefSeq Alternation Syntax
NM_001406791.1:c.1112A>G
ClinVar RefSeq Alternation Syntax
NM_001406763.1:c.2282A>G
ClinVar RefSeq Alternation Syntax
NM_001406761.1:c.2288A>G
ClinVar RefSeq Alternation Syntax
NM_001406762.1:c.2288A>G
ClinVar RefSeq Alternation Syntax
NM_001406765.1:c.2282A>G
ClinVar RefSeq Alternation Syntax
NM_001406759.1:c.2417A>G
ClinVar RefSeq Alternation Syntax
NM_001406764.1:c.2288A>G
ClinVar RefSeq Alternation Syntax
NM_001406766.1:c.2129A>G
ClinVar RefSeq Alternation Syntax
NM_001406767.1:c.2129A>G
ClinVar RefSeq Alternation Syntax
NM_001406784.1:c.1427A>G
ClinVar RefSeq Alternation Syntax
NM_001406760.1:c.2417A>G
ClinVar RefSeq Alternation Syntax
NM_001406792.1:c.968A>G
ClinVar RefSeq Alternation Syntax
NM_020629.2:c.2417A>G
ClinVar RefSeq Alternation Syntax
NM_001406768.1:c.2153A>G
ClinVar RefSeq Alternation Syntax
NM_001406769.1:c.2021A>G
ClinVar RefSeq Alternation Syntax
NM_001406772.1:c.2021A>G
ClinVar RefSeq Alternation Syntax
NM_001406788.1:c.1232A>G
ClinVar RefSeq Alternation Syntax
NM_001406775.1:c.1691A>G
ClinVar RefSeq Alternation Syntax
NM_001406776.1:c.1691A>G
ClinVar RefSeq Alternation Syntax
NM_001406780.1:c.1520A>G
ClinVar RefSeq Alternation Syntax
NM_020975.6:c.2417A>G
ClinVar RefSeq Alternation Syntax
NM_001406786.1:c.1391A>G
ClinVar RefSeq Alternation Syntax
NM_001406777.1:c.1691A>G
ClinVar RefSeq Alternation Syntax
NM_001406778.1:c.1691A>G
ClinVar RefSeq Alternation Syntax
NM_001406793.1:c.968A>G
ClinVar RefSeq Alternation Syntax
NM_001406744.1:c.2417A>G
ClinVar RefSeq Alternation Syntax
NM_001406743.1:c.2417A>G
ClinVar RefSeq Alternation Syntax
NM_000323.2:c.2417A>G
ClinVar RefSeq Alternation Syntax
NM_001406774.1:c.1892A>G
ClinVar RefSeq Alternation Syntax
NM_001406789.1:c.1232A>G
ClinVar RefSeq Alternation Syntax
NM_001406770.1:c.2129A>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-03-06
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000798052
ClinVar Disease
Multiple endocrine neoplasia, type 2
Observed Origin Sample
germline
Drugs