ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3
Germline
Classification
(1)
Likely benign
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 | |||
BRAT1 | - | - |
GRCh38 GRCh37 |
1202 | 1260 | |
CHST12 | - | - |
GRCh38 GRCh37 |
39 | 94 | |
EIF3B | - | - |
GRCh38 GRCh37 |
70 | 139 | |
GRIFIN | - | - | GRCh38 | - | 18 | |
IQCE | - | - |
GRCh38 GRCh37 |
120 | 187 | |
LFNG | - | - |
GRCh38 GRCh37 |
236 | 309 | |
LOC106799845 | - | - | - | GRCh38 | - | 18 |
LOC113743972 | - | - | - | GRCh38 | - | 17 |
LOC113743973 | - | - | - | GRCh38 | - | 18 |
LOC116183079 | - | - | - | GRCh38 | - | 19 |
There are 55 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
|
Likely benign (1) |
|
Sep 27, 2013 | RCV000143263.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024