ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_47596635)_(48034009_?)dup
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7395 | 7557 | |
MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9149 | 9462 | |
EPCAM | - | - |
GRCh38 GRCh37 |
771 | 875 | |
KCNK12 | - | - |
GRCh38 GRCh37 |
- | 61 | |
LOC122757938 | - | - | - | GRCh38 | - | 9 |
LOC129933695 | - | - | - | GRCh38 | - | 61 |
LOC129933696 | - | - | - | GRCh38 | - | 8 |
LOC129933697 | - | - | - | GRCh38 | - | 13 |
LOC129933698 | - | - | - | GRCh38 | - | 8 |
LOC129933699 | - | - | - | GRCh38 | - | 8 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 22, 2018 | RCV000809992.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024