Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Met862IlefsTer5 (p.M862Ifs*5) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Met862IlefsTer5 (p.M862Ifs*5) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_020975.6(RET):c.2586_2592del (p.Met862fs) AND not provided
ClinVar Allele ID
191588
ClinVar RefSeq Alternation Syntax
NM_000323.2:c.2586_2592delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406787.1:c.1554_1560delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406773.1:c.2148_2154delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406786.1:c.1560_1566delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406791.1:c.1281_1287delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406793.1:c.1137_1143delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406766.1:c.2298_2304delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406775.1:c.1860_1866delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406764.1:c.2457_2463delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406781.1:c.1689_1695delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001355216.2:c.1824_1830delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406763.1:c.2451_2457delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406744.1:c.2586_2592delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_020975.6:c.2586_2592del
ClinVar RefSeq Alternation Syntax
NM_001406789.1:c.1401_1407delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_020630.7:c.2586_2592delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406761.1:c.2457_2463delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406784.1:c.1596_1602delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406794.1:c.1137_1143delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406770.1:c.2298_2304delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406772.1:c.2190_2196delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406782.1:c.1689_1695delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406743.1:c.2586_2592delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406778.1:c.1860_1866delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406774.1:c.2061_2067delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406788.1:c.1401_1407delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406790.1:c.1401_1407delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406777.1:c.1860_1866delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_020629.2:c.2586_2592delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406771.1:c.2148_2154delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406762.1:c.2457_2463delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406765.1:c.2451_2457delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406768.1:c.2322_2328delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406785.1:c.1569_1575delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406760.1:c.2586_2592delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406776.1:c.1860_1866delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406792.1:c.1137_1143delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406783.1:c.1560_1566delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406779.1:c.1689_1695delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406767.1:c.2298_2304delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406769.1:c.2190_2196delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406780.1:c.1689_1695delGCAGTAT
ClinVar RefSeq Alternation Syntax
NM_001406759.1:c.2586_2592delGCAGTAT
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2015-01-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000174791
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs