ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.1(chr7:6213720-6697571)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 | |||
CYTH3 | - | - |
GRCh38 GRCh37 |
13 | 69 | |
DAGLB | - | - |
GRCh38 GRCh37 |
82 | 135 | |
FAM220A | - | - |
GRCh38 GRCh37 |
- | 63 | |
GRID2IP | - | - |
GRCh38 GRCh37 |
126 | 184 | |
INTS15 | - | - | - |
GRCh38 GRCh37 |
9 | 52 |
KDELR2 | - | - |
GRCh38 GRCh37 |
25 | 77 | |
LOC113748402 | - | - | - | GRCh38 | - | 14 |
LOC123924898 | - | - | - | GRCh38 | - | 20 |
LOC123924899 | - | - | - | GRCh38 | - | 15 |
LOC129389733 | - | - | - | GRCh38 | - | 17 |
There are 34 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 30, 2011 | RCV000140742.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024