Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Gly830Arg (p.G830R) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Gly830Arg (p.G830R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
358830
ClinVar RefSeq Alternation Syntax
NM_001355216.2:c.1726G>A
ClinVar RefSeq Alternation Syntax
NM_001406792.1:c.1039G>A
ClinVar RefSeq Alternation Syntax
NM_001406779.1:c.1591G>A
ClinVar RefSeq Alternation Syntax
NM_001406761.1:c.2359G>A
ClinVar RefSeq Alternation Syntax
NM_001406770.1:c.2200G>A
ClinVar RefSeq Alternation Syntax
NM_001406793.1:c.1039G>A
ClinVar RefSeq Alternation Syntax
NM_001406763.1:c.2353G>A
ClinVar RefSeq Alternation Syntax
NM_001406785.1:c.1471G>A
ClinVar RefSeq Alternation Syntax
NM_001406766.1:c.2200G>A
ClinVar RefSeq Alternation Syntax
NM_001406784.1:c.1498G>A
ClinVar RefSeq Alternation Syntax
NM_001406765.1:c.2353G>A
ClinVar RefSeq Alternation Syntax
NM_001406759.1:c.2488G>A
ClinVar RefSeq Alternation Syntax
NM_001406781.1:c.1591G>A
ClinVar RefSeq Alternation Syntax
NM_001406780.1:c.1591G>A
ClinVar RefSeq Alternation Syntax
NM_001406782.1:c.1591G>A
ClinVar RefSeq Alternation Syntax
NM_001406768.1:c.2224G>A
ClinVar RefSeq Alternation Syntax
NM_020975.6:c.2488G>A
ClinVar RefSeq Alternation Syntax
NM_001406764.1:c.2359G>A
ClinVar RefSeq Alternation Syntax
NM_001406769.1:c.2092G>A
ClinVar RefSeq Alternation Syntax
NM_001406794.1:c.1039G>A
ClinVar RefSeq Alternation Syntax
NM_001406790.1:c.1303G>A
ClinVar RefSeq Alternation Syntax
NM_001406762.1:c.2359G>A
ClinVar RefSeq Alternation Syntax
NM_020630.7:c.2488G>A
ClinVar RefSeq Alternation Syntax
NM_001406788.1:c.1303G>A
ClinVar RefSeq Alternation Syntax
NM_001406786.1:c.1462G>A
ClinVar RefSeq Alternation Syntax
NM_020629.2:c.2488G>A
ClinVar RefSeq Alternation Syntax
NM_001406775.1:c.1762G>A
ClinVar RefSeq Alternation Syntax
NM_001406777.1:c.1762G>A
ClinVar RefSeq Alternation Syntax
NM_001406760.1:c.2488G>A
ClinVar RefSeq Alternation Syntax
NM_001406789.1:c.1303G>A
ClinVar RefSeq Alternation Syntax
NM_001406776.1:c.1762G>A
ClinVar RefSeq Alternation Syntax
NM_001406744.1:c.2488G>A
ClinVar RefSeq Alternation Syntax
NM_001406773.1:c.2050G>A
ClinVar RefSeq Alternation Syntax
NM_001406743.1:c.2488G>A
ClinVar RefSeq Alternation Syntax
NM_001406778.1:c.1762G>A
ClinVar RefSeq Alternation Syntax
NM_001406791.1:c.1183G>A
ClinVar RefSeq Alternation Syntax
NM_001406767.1:c.2200G>A
ClinVar RefSeq Alternation Syntax
NM_001406774.1:c.1963G>A
ClinVar RefSeq Alternation Syntax
NM_000323.2:c.2488G>A
ClinVar RefSeq Alternation Syntax
NM_001406783.1:c.1462G>A
ClinVar RefSeq Alternation Syntax
NM_001406787.1:c.1456G>A
ClinVar RefSeq Alternation Syntax
NM_001406771.1:c.2050G>A
ClinVar RefSeq Alternation Syntax
NM_001406772.1:c.2092G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2022-04-19
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002429338
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs