ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q21.3(chr7:95127070-97873487)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 | |||
DLX5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
39 | 70 | |
DLX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 102 | |
PPP1R9A | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 117 | |
SEM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1 | 22 | |
ASB4 | - | - |
GRCh38 GRCh37 |
27 | 45 | |
ASNS | - | - |
GRCh38 GRCh37 |
5 | 735 | |
C7orf76 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
CZ1P-ASNS | - | - | - | GRCh38 | - | 717 |
DLX6-AS1 | - | - | - | GRCh38 | - | 87 |
DYNC1I1 | - | - |
GRCh38 GRCh37 |
83 | 108 |
There are 53 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135435.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024