Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 c.2211-2A>T
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713919.1 )
MSH2 c.2211-2A>T ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 ) - Associated Disease
- Hereditary nonpolyposis colorectal neoplasms
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.2211-2A>T AND Hereditary nonpolyposis colorectal neoplasms
- ClinVar Allele ID
- 96405
- ClinVar RefSeq Alternation Syntax
- NM_001406645.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406637.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406674.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406632.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406669.1:c.855-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406661.1:c.855-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406662.1:c.855-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406660.1:c.855-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406640.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406634.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406642.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406653.1:c.2151-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406648.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406652.1:c.2061-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406650.1:c.2061-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406636.1:c.2178-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406644.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406649.1:c.2061-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406631.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406638.1:c.2250-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406659.1:c.855-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406646.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406633.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406641.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406635.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406647.1:c.2061-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406654.1:c.1791-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406639.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406643.1:c.2211-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.2013-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406658.1:c.855-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406651.1:c.2061-2A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406656.1:c.1314-2A>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-12-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001854326
- ClinVar Disease
- Hereditary nonpolyposis colorectal neoplasms
- Observed Origin Sample
- germline
Drugs