ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q24.3(chr8:144264907-144668170)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 | |||
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 102 |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
80 | 150 | |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 84 | |
C8orf82 | - | - | - |
GRCh38 GRCh37 |
3 | 73 |
CPSF1 | - | - |
GRCh38 GRCh38 GRCh37 |
110 | 183 | |
DGAT1 | - | - |
GRCh38 GRCh38 GRCh37 |
554 | 728 | |
FBXL6 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 121 | |
FOXH1 | - | - |
GRCh38 GRCh37 |
200 | 291 | |
GPT | - | - |
GRCh38 GRCh37 |
65 | 134 | |
HSF1 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 98 |
There are 66 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) |
|
Nov 30, 2010 | RCV000134352.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023