Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 c.1076+1G>A
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 c.1076+1G>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 ) - Associated Disease
- Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 1
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.1076+1G>A AND multiple conditions
- ClinVar Allele ID
- 95994
- ClinVar RefSeq Alternation Syntax
- NM_001406657.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406631.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406647.1:c.926+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406634.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406661.1:c.-545+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406655.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406654.1:c.656+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406660.1:c.-590+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406649.1:c.926+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406646.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406640.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.878+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406659.1:c.-393+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406656.1:c.179+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406642.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406652.1:c.926+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406644.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406672.1:c.926+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406638.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406643.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406635.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406651.1:c.926+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406650.1:c.926+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406669.1:c.-393+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406674.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406633.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406648.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406639.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406632.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406636.1:c.1043+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406641.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406666.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406653.1:c.1016+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406637.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406645.1:c.1076+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406662.1:c.-462+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406658.1:c.-393+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763489
- ClinVar Disease
- Lynch syndrome 1
- ClinVar Disease
- Mismatch repair cancer syndrome 1
- ClinVar Disease
- Muir-Torré syndrome
- Observed Origin Sample
- unknown
Drugs