ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)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 | |||
ADAP1 | - | - |
GRCh38 GRCh37 |
20 | 79 | |
AMZ1 | - | - |
GRCh38 GRCh37 |
68 | 121 | |
BRAT1 | - | - |
GRCh38 GRCh37 |
1202 | 1260 | |
C7orf50 | - | - | - |
GRCh38 GRCh37 |
3 | 150 |
CARD11 | - | - |
GRCh38 GRCh37 |
932 | 1072 | |
CARD11-AS1 | - | - | - | GRCh38 | - | 109 |
CHST12 | - | - |
GRCh38 GRCh37 |
39 | 94 | |
COX19 | - | - |
GRCh38 GRCh37 |
6 | 60 | |
CYP2W1 | - | - |
GRCh38 GRCh37 |
- | 111 | |
DNAAF5 | - | - |
GRCh38 GRCh37 |
534 | 745 |
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
|
Uncertain significance (1) |
|
Apr 4, 2013 | RCV000143175.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024