ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1
Germline
Classification
(1)
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 | |||
DEFB103A | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 192 |
DEFB103B | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 196 | |
DEFB104A | - | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 199 |
DEFB104B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
4 | 203 |
DEFB105A | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 206 |
DEFB105B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
2 | 199 |
DEFB106A | - | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 208 |
DEFB106B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
2 | 199 |
DEFB107A | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 203 |
DEFB107B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 198 |
There are 35 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
|
Benign (1) |
|
Sep 21, 2012 | RCV000142847.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024