Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH c.495+2T>C, ENSG00000288208 c.1008+2T>C
(
ENST00000488731.6,
ENST00000713751.1,
ENST00000528013.6,
ENST00000412971.6,
ENST00000372104.5,
ENST00000355498.6,
ENST00000372115.7,
ENST00000529984.5,
ENST00000456914.7,
ENST00000354383.10,
ENST00000672314.2,
ENST00000483127.2,
ENST00000713750.1,
ENST00000372110.7,
ENST00000710952.2,
ENST00000372098.7,
ENST00000448481.5,
ENST00000529892.6,
ENST00000531105.5,
ENST00000672818.3 )
MUTYH c.495+2T>C, ENSG00000288208 c.1008+2T>C ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 ) - Associated Disease
- familial adenomatous polyposis 2
- Source Database
- ClinVar
- Description
- NM_001048174.2(MUTYH):c.420+2T>C AND Familial adenomatous polyposis 2
- ClinVar Allele ID
- 152519
- ClinVar RefSeq Alternation Syntax
- NM_001293192.2:c.144+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407069.1:c.454-82T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407077.1:c.453+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001293196.2:c.144+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407075.1:c.336+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001128425.2:c.504+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407086.1:c.423+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001048173.2:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001048172.2:c.423+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407072.1:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407088.1:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001048171.2:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407070.1:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407089.1:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001350651.2:c.75+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407073.1:c.421-82T>C
- ClinVar RefSeq Alternation Syntax
- NM_001350650.2:c.75+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407071.1:c.423+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407091.1:c.144+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001048174.2:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407082.1:c.75+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001293190.2:c.465+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407085.1:c.462+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407078.1:c.423+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407079.1:c.382-82T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407080.1:c.379-82T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407087.1:c.441+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407081.1:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407083.1:c.462+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001293191.2:c.453+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001293195.2:c.420+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_012222.3:c.495+2T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000530394
- ClinVar Disease
- Familial adenomatous polyposis 2
- Observed Origin Sample
- germline
Drugs