ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q36.1(chr7:150112013-150707556)x3
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 |
3219 | 3305 | |
AOC1 | - | - |
GRCh38 GRCh37 |
60 | 137 | |
GIMAP1 | - | - |
GRCh38 GRCh37 |
- | 88 | |
GIMAP2 | - | - |
GRCh38 GRCh37 |
26 | 102 | |
GIMAP4 | - | - |
GRCh38 GRCh37 |
28 | 101 | |
GIMAP5 | - | - |
GRCh38 GRCh37 |
- | 92 | |
GIMAP6 | - | - |
GRCh38 GRCh37 |
35 | 112 | |
GIMAP7 | - | - |
GRCh38 GRCh37 |
32 | 105 | |
GIMAP8 | - | - |
GRCh38 GRCh37 |
32 | 125 | |
NOS3 | - | - |
GRCh38 GRCh37 |
109 | 252 |
There are 2 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) |
|
May 16, 2018 | RCV000847609.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022