ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.21(chr7:62977012-66848675)
Germline
Classification
(1)
Likely pathogenic
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 | |||
ASL | - | - |
GRCh38 GRCh37 |
840 | 875 | |
CICP24 | - | - | - | GRCh38 | - | 6 |
CRCP | - | - |
GRCh38 GRCh37 |
7 | 29 | |
ERV3-1 | - | - |
GRCh38 GRCh37 |
- | 22 | |
ERV3-1-ZNF117 | - | - | - | GRCh38 | - | 39 |
GUSB | - | - |
GRCh38 GRCh37 |
595 | 654 | |
KCTD7 | - | - |
GRCh38 GRCh37 |
358 | 458 | |
LINC00174 | - | - | - | GRCh38 | - | 8 |
LINC01005 | - | - | - | GRCh38 | - | 7 |
LINC02848 | - | - | - | GRCh38 | - | 7 |
There are 82 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 4, 2013 | RCV000143449.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023