ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1
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 |
3197 | 3283 | |
ABCB8 | - | - |
GRCh38 GRCh37 |
55 | 133 | |
ABCF2 | - | - |
GRCh38 GRCh37 |
- | 91 | |
ACTR3C | - | - | - |
GRCh38 GRCh37 |
21 | 92 |
AGAP3 | - | - |
GRCh38 GRCh37 |
51 | 130 | |
AOC1 | - | - |
GRCh38 GRCh37 |
48 | 125 | |
ASB10 | - | - |
GRCh38 GRCh37 |
147 | 225 | |
ASIC3 | - | - |
GRCh38 GRCh37 |
63 | 145 | |
ATG9B | - | - |
GRCh38 GRCh37 |
57 | 164 | |
ATP6V0E2 | - | - |
GRCh38 GRCh37 |
10 | 79 |
There are 41 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) |
|
May 3, 2023 | RCV003482992.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024