ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1
Germline
Classification
(1)
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 | |||
CCL24 | - | - |
GRCh38 GRCh37 |
4 | 43 | |
CCL26 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
DTX2 | - | - |
GRCh38 GRCh38 GRCh37 |
64 | 92 | |
FPASL | - | - | - | GRCh38 | - | 14 |
HIP1 | - | - |
GRCh38 GRCh37 |
104 | 152 | |
HSPB1 | - | - |
GRCh38 GRCh37 |
369 | 409 | |
LINC03009 | - | - | - |
GRCh38 GRCh38 |
- | 36 |
LOC113748413 | - | - | - | GRCh38 | - | 13 |
LOC113748414 | - | - | - | GRCh38 | - | 14 |
LOC116183091 | - | - | - | GRCh38 | - | 13 |
There are 57 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Feb 11, 2011 | RCV000136113.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024