ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:7311998-7802122)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 | |||
DEFB103B | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 196 | |
DEFB104B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
4 | 203 |
DEFB105B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
2 | 199 |
DEFB106B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
2 | 199 |
DEFB107B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 198 |
DEFB109B | - | - | - |
GRCh38 GRCh38 |
- | 98 |
DEFB4B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
5 | 201 |
FAM66B | - | - | - | GRCh38 | - | 105 |
FAM90A10 | - | - |
GRCh38 GRCh38 |
- | 155 | |
FAM90A14 | - | - | GRCh38 | 1 | 156 |
There are 18 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) |
|
Mar 8, 2011 | RCV000136372.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024