ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |
ACTR3C | - | - | - |
GRCh38 GRCh37 |
21 | 92 |
AGAP3 | - | - |
GRCh38 GRCh37 |
51 | 130 | |
AOC1 | - | - |
GRCh38 GRCh37 |
48 | 125 | |
ASIC3 | - | - |
GRCh38 GRCh37 |
63 | 145 | |
ATG9B | - | - |
GRCh38 GRCh37 |
57 | 164 | |
ATP6V0E2 | - | - |
GRCh38 GRCh37 |
10 | 79 | |
C7orf33 | - | - | - |
GRCh38 GRCh37 |
- | 71 |
CDK5 | - | - |
GRCh38 GRCh37 |
53 | 132 |
There are 38 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 22, 2014 | RCV000511618.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024