ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q36.1(chr7:150319864-152674271)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 |
3188 | 3271 | |
KMT2C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1581 | 1725 | |
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1115 | 1290 | |
ABCB8 | - | - |
GRCh38 GRCh37 |
55 | 132 | |
ABCF2 | - | - |
GRCh38 GRCh37 |
- | 90 | |
ABCF2-H2BK1 | - | - | - | GRCh38 | - | 47 |
ACTR3C | - | - | - |
GRCh38 GRCh37 |
21 | 92 |
AGAP3 | - | - |
GRCh38 GRCh37 |
51 | 129 | |
AOC1 | - | - |
GRCh38 GRCh37 |
48 | 123 | |
ASB10 | - | - |
GRCh38 GRCh37 |
147 | 224 |
There are 183 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37 , NCBI36 , GRCh38) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050552.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024