ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)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 | |||
ADAP1 | - | - |
GRCh38 GRCh37 |
22 | 82 | |
AMZ1 | - | - |
GRCh38 GRCh37 |
74 | 129 | |
BRAT1 | - | - |
GRCh38 GRCh37 |
1209 | 1267 | |
C7orf50 | - | - | - |
GRCh38 GRCh37 |
3 | 156 |
CARD11 | - | - |
GRCh38 GRCh37 |
937 | 1077 | |
CARD11-AS1 | - | - | - | GRCh38 | - | 109 |
CHST12 | - | - |
GRCh38 GRCh37 |
45 | 100 | |
COX19 | - | - |
GRCh38 GRCh37 |
7 | 61 | |
CYP2W1 | - | - |
GRCh38 GRCh37 |
- | 115 | |
DNAAF5 | - | - |
GRCh38 GRCh37 |
539 | 755 |
There are 238 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) |
|
Jan 30, 2010 | RCV000136789.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024