Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Glu632Asp (p.E632D)
(
ENST00000615310.5,
ENST00000355710.8,
ENST00000713926.1,
ENST00000340058.6 )
RET p.Leu633Val (p.L633V) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Cys634Arg (p.C634R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Glu632Asp (p.E632D) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Leu633Val (p.L633V) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Arg (p.C634R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- ClinVar
- Description
- NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C] AND Multiple endocrine neoplasia type 2A
- ClinVar Allele ID
- 38399
- ClinVar Allele ID
- 28945
- ClinVar Allele ID
- 28956
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1767G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.715T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.999G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1501C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.712C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1767G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1462T>C
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1900T>C
- 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.1462T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.907C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1458G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.1170G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.591G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1170G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1767G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1170G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.1003T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1609C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1504T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.448C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1458G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.711G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1501C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.712C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.448C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.870G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1612T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.874T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.871C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.447G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.451T>C
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1900T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.447G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.595T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.999G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.715T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.906G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1504T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.880C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1771T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406792.1:c.451T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1900T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406791.1:c.592C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1608G>C
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.1609C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1771T>C
- 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_001355216.2:c.1134G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1771T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.999G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.451T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406794.1:c.448C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.712C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406793.1:c.447G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.910T>C
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.883T>C
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1900T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.1612T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406790.1:c.711G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.1174T>C
- 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_001406777.1:c.1174T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1174T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1174T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406772.1:c.1500G>C
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1375T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1900T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1372C>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_001406776.1:c.1171C>G
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1768C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.1171C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406785.1:c.879G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1003T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1003T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1612T>C
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1900T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406789.1:c.711G>C
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.1138T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.1459C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406774.1:c.1371G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406788.1:c.715T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1900T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406769.1:c.1500G>C
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1900T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.1608G>C
- 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_001406767.1:c.1608G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406780.1:c.1000C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.1170G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1000C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406783.1:c.874T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406781.1:c.1000C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406779.1:c.999G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406786.1:c.870G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1897C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.1459C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406782.1:c.1003T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1994-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014920
- ClinVar Disease
- Multiple endocrine neoplasia type 2A
- Observed Origin Sample
- germline
- Pubmed
- 3078962
- Pubmed
- 7907913
- Pubmed
- 8099202
Drugs