ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3(chr7:45130-1298050)x1
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 | |
C7orf50 | - | - | - |
GRCh38 GRCh37 |
3 | 150 |
COX19 | - | - |
GRCh38 GRCh37 |
6 | 60 | |
CYP2W1 | - | - |
GRCh38 GRCh37 |
- | 111 | |
DNAAF5 | - | - |
GRCh38 GRCh37 |
534 | 745 | |
FAM20C | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
469 | 524 | |
FOXL3 | - | - | - | GRCh38 | 1 | 25 |
FOXL3-OT1 | - | - | - | GRCh38 | - | 24 |
GET4 | - | - |
GRCh38 GRCh37 |
36 | 90 | |
GPER1 | - | - |
GRCh38 GRCh37 |
- | 82 |
There are 94 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) |
|
Oct 23, 2012 | RCV000143341.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024