ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)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 | |||
KCNK9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 113 | |
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 92 |
ADCY8 | - | - |
GRCh38 GRCh37 |
48 | 112 | |
ADGRB1 | - | - |
GRCh38 GRCh37 |
58 | 118 | |
AGO2 | - | - |
GRCh38 GRCh37 |
77 | 153 | |
ARC | - | - |
GRCh38 GRCh37 |
8 | 66 | |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
66 | 136 | |
ASTILCS | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 22 |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 84 | |
C8orf17 | - | - |
GRCh38 GRCh37 |
- | 65 |
There are 491 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 14, 2011 | RCV000137644.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023