ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3
Germline
Classification
(1)
Pathogenic
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 | |||
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 | |
KCNK9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 113 | |
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 102 |
ADGRB1 | - | - |
GRCh38 GRCh37 |
82 | 144 | |
AGO2 | - | - |
GRCh38 GRCh37 |
81 | 157 | |
ARC | - | - |
GRCh38 GRCh37 |
10 | 68 | |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
80 | 150 | |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 84 | |
C8orf17 | - | - |
GRCh38 GRCh37 |
- | 65 |
There are 93 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000448348.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024