Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Cys620Arg (p.C620R) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Cys620Arg (p.C620R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND not provided
ClinVar Allele ID
28954
ClinVar RefSeq Alternation Syntax
NM_001406780.1:c.961T>C
ClinVar RefSeq Alternation Syntax
NM_001406761.1:c.1729T>C
ClinVar RefSeq Alternation Syntax
NM_001406762.1:c.1729T>C
ClinVar RefSeq Alternation Syntax
NM_001406787.1:c.961T>C
ClinVar RefSeq Alternation Syntax
NM_020630.7:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001406764.1:c.1729T>C
ClinVar RefSeq Alternation Syntax
NM_001406789.1:c.673T>C
ClinVar RefSeq Alternation Syntax
NM_001406772.1:c.1462T>C
ClinVar RefSeq Alternation Syntax
NM_001406790.1:c.673T>C
ClinVar RefSeq Alternation Syntax
NM_001406781.1:c.961T>C
ClinVar RefSeq Alternation Syntax
NM_001406759.1:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001355216.2:c.1096T>C
ClinVar RefSeq Alternation Syntax
NM_001406773.1:c.1420T>C
ClinVar RefSeq Alternation Syntax
NM_001406792.1:c.409T>C
ClinVar RefSeq Alternation Syntax
NM_001406782.1:c.961T>C
ClinVar RefSeq Alternation Syntax
NM_020975.6:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001406784.1:c.868T>C
ClinVar RefSeq Alternation Syntax
NM_001406744.1:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001406794.1:c.409T>C
ClinVar RefSeq Alternation Syntax
NM_001406788.1:c.673T>C
ClinVar RefSeq Alternation Syntax
NM_001406743.1:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001406765.1:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001406770.1:c.1570T>C
ClinVar RefSeq Alternation Syntax
NM_001406769.1:c.1462T>C
ClinVar RefSeq Alternation Syntax
NM_001406776.1:c.1132T>C
ClinVar RefSeq Alternation Syntax
NM_001406779.1:c.961T>C
ClinVar RefSeq Alternation Syntax
NM_020629.2:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001406783.1:c.832T>C
ClinVar RefSeq Alternation Syntax
NM_000323.2:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001406775.1:c.1132T>C
ClinVar RefSeq Alternation Syntax
NM_001406763.1:c.1858T>C
ClinVar RefSeq Alternation Syntax
NM_001406771.1:c.1420T>C
ClinVar RefSeq Alternation Syntax
NM_001406774.1:c.1333T>C
ClinVar RefSeq Alternation Syntax
NM_001406766.1:c.1570T>C
ClinVar RefSeq Alternation Syntax
NM_001406768.1:c.1729T>C
ClinVar RefSeq Alternation Syntax
NM_001406767.1:c.1570T>C
ClinVar RefSeq Alternation Syntax
NM_001406778.1:c.1132T>C
ClinVar RefSeq Alternation Syntax
NM_001406786.1:c.832T>C
ClinVar RefSeq Alternation Syntax
NM_001406777.1:c.1132T>C
ClinVar RefSeq Alternation Syntax
NM_001406793.1:c.409T>C
ClinVar RefSeq Alternation Syntax
NM_001406760.1:c.1858T>C
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-08-15
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000182580
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs