ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 102 |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
80 | 150 | |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 84 | |
C8orf33 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 61 |
C8orf82 | - | - | - |
GRCh38 GRCh37 |
3 | 73 |
COMMD5 | - | - |
GRCh38 GRCh37 |
11 | 101 | |
CPSF1 | - | - |
GRCh38 GRCh38 GRCh37 |
110 | 183 | |
CYC1 | - | - |
GRCh38 GRCh37 |
118 | 186 | |
DGAT1 | - | - |
GRCh38 GRCh38 GRCh37 |
554 | 728 | |
EXOSC4 | - | - |
GRCh38 GRCh37 |
13 | 80 |
There are 36 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 28, 2020 | RCV001270667.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023