ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_150642443)_(151385353_?)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 | |||
KCNH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3190 | 3273 | |
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1116 | 1291 | |
ABCB8 | - | - |
GRCh38 GRCh37 |
55 | 132 | |
ABCF2 | - | - |
GRCh38 GRCh37 |
- | 90 | |
AGAP3 | - | - |
GRCh38 GRCh37 |
51 | 129 | |
ASB10 | - | - |
GRCh38 GRCh37 |
147 | 224 | |
ASIC3 | - | - |
GRCh38 GRCh37 |
63 | 144 | |
ATG9B | - | - |
GRCh38 GRCh37 |
57 | 163 | |
CDK5 | - | - |
GRCh38 GRCh37 |
53 | 131 | |
CHPF2 | - | - |
GRCh38 GRCh37 |
63 | 142 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 7, 2019 | RCV001031214.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022