ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.3(chr8:144090414-145900544)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 | |||
PUF60 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
173 | 246 | |
GSDMD | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
44 | 105 | |
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 102 |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
80 | 150 | |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 84 | |
C8orf82 | - | - | - |
GRCh38 GRCh37 |
3 | 73 |
CCDC166 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 100 |
CPSF1 | - | - |
GRCh38 GRCh38 GRCh37 |
110 | 183 | |
CYC1 | - | - |
GRCh38 GRCh37 |
118 | 186 | |
DGAT1 | - | - |
GRCh38 GRCh38 GRCh37 |
554 | 728 |
There are 55 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986763.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024