ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_150642433)_(151573725_?)del
Germline
Classification
(1)
Pathogenic
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 |
3217 | 3303 | |
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1127 | 1304 | |
ABCB8 | - | - |
GRCh38 GRCh37 |
59 | 137 | |
ABCF2 | - | - |
GRCh38 GRCh37 |
- | 93 | |
AGAP3 | - | - |
GRCh38 GRCh37 |
57 | 136 | |
ASB10 | - | - |
GRCh38 GRCh37 |
150 | 228 | |
ASIC3 | - | - |
GRCh38 GRCh37 |
67 | 151 | |
ATG9B | - | - |
GRCh38 GRCh37 |
67 | 174 | |
CDK5 | - | - |
GRCh38 GRCh37 |
54 | 133 | |
CHPF2 | - | - |
GRCh38 GRCh37 |
70 | 150 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 18, 2017 | RCV000631876.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022