ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q11.23(chr7:75076890-76007283)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 | |||
CCL24 | - | - |
GRCh38 GRCh37 |
3 | 42 | |
CCL26 | - | - |
GRCh38 GRCh37 |
10 | 50 | |
HIP1 | - | - |
GRCh38 GRCh37 |
91 | 139 | |
HSPB1 | - | - |
GRCh38 GRCh37 |
368 | 408 | |
MDH2 | - | - |
GRCh38 GRCh37 |
631 | 675 | |
POM121C | - | - |
GRCh38 GRCh37 |
97 | 131 | |
POR | - | - |
GRCh38 GRCh37 |
707 | 847 | |
RHBDD2 | - | - |
GRCh38 GRCh37 |
24 | 65 | |
SPDYE5 | - | - | - |
GRCh38 GRCh37 |
41 | 74 |
SRRM3 | - | - | - |
GRCh38 GRCh37 |
39 | 80 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 26, 2017 | RCV000849303.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022