Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 c.942+2T>C
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 c.942+2T>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 ) - Associated Disease
- Lynch syndrome 1
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.942+2T>C AND Lynch syndrome 1
- ClinVar Allele ID
- 152464
- ClinVar RefSeq Alternation Syntax
- NM_001406666.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406653.1:c.882+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406672.1:c.792+1860T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406634.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406647.1:c.792+1860T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406635.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406644.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406662.1:c.-596+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406650.1:c.792+1860T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406658.1:c.-527+1860T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406656.1:c.45+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406645.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406649.1:c.792+1860T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406646.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406633.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406631.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406632.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406648.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406674.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406652.1:c.792+1860T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406659.1:c.-527+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406655.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406643.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406637.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406638.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406642.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406639.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406640.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406641.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406669.1:c.-527+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406651.1:c.792+1860T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406636.1:c.909+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406654.1:c.522+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406660.1:c.-724+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.744+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406657.1:c.942+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406661.1:c.-679+2T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003453091
- ClinVar Disease
- Lynch syndrome 1
- Observed Origin Sample
- unknown
Drugs