ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3
Germline
Classification
(1)
Benign
criteria provided, single submitter
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 |
- | 193 |
DEFB104A | - | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 200 |
DEFB105A | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 207 |
DEFB106A | - | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 209 |
DEFB107A | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 204 |
DEFB4A | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 198 | |
FAM66E | - | - | - |
GRCh38 GRCh38 |
- | 97 |
FAM85B | - | - | - |
GRCh38 GRCh38 |
- | 92 |
FAM90A10 | - | - |
GRCh38 GRCh38 |
- | 156 | |
FAM90A11 | - | - | - |
GRCh38 GRCh38 |
- | 93 |
There are 20 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) |
|
Aug 12, 2011 | RCV000050329.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024