ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:11901356-12610034)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 | |||
DEFB130A | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 66 |
DEFB130B | - | - | - | GRCh38 | - | 38 |
DEFB134 | - | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 112 |
DEFB135 | - | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 125 |
DEFB136 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 114 |
FAM66A | - | - | - |
GRCh38 GRCh38 |
1 | 41 |
FAM66D | - | - | - |
GRCh38 GRCh38 |
- | 53 |
FAM85A | - | - | - |
GRCh38 GRCh38 |
- | 66 |
FAM86B1 | - | - |
GRCh38 GRCh37 |
15 | 118 | |
FAM86B2 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 103 |
There are 8 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 |
---|---|---|---|---|
Benign (1) |
|
May 27, 2010 | RCV000133706.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024