ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.3(chr8:145080420-146258478)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 | 103 |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
80 | 151 | |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 85 | |
C8orf82 | - | - | - |
GRCh38 GRCh37 |
3 | 74 |
COMMD5 | - | - |
GRCh38 GRCh37 |
11 | 102 | |
CPSF1 | - | - |
GRCh38 GRCh38 GRCh37 |
111 | 185 | |
CYC1 | - | - |
GRCh38 GRCh37 |
118 | 187 | |
DGAT1 | - | - |
GRCh38 GRCh38 GRCh37 |
554 | 729 | |
EXOSC4 | - | - |
GRCh38 GRCh37 |
13 | 81 | |
FBXL6 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 122 |
There are 32 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) |
|
Aug 6, 2022 | RCV003484758.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024