ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)
Germline
Classification
(1)
Pathogenic
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 | |||
KCNK9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
54 | 117 | |
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 116 |
ADCY8 | - | - |
GRCh38 GRCh37 |
66 | 131 | |
ADGRB1 | - | - |
GRCh38 GRCh37 |
93 | 157 | |
AGO2 | - | - |
GRCh38 GRCh37 |
92 | 168 | |
ARC | - | - |
GRCh38 GRCh37 |
11 | 69 | |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
95 | 166 | |
ASAP1 | - | - |
GRCh38 GRCh37 |
33 | 99 | |
ASAP1-IT1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 88 |
There are 109 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) |
|
Mar 1, 2022 | RCV002053797.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023