ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1
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 | |||
ADGRB1 | - | - |
GRCh38 GRCh37 |
82 | 144 | |
ARC | - | - |
GRCh38 GRCh37 |
10 | 68 | |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 84 | |
CCDC166 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 100 |
CYC1 | - | - |
GRCh38 GRCh37 |
118 | 186 | |
CYP11B1 | - | - |
GRCh38 GRCh37 |
207 | 889 | |
CYP11B2 | - | - |
GRCh38 GRCh37 |
19 | 729 | |
DENND3 | - | - |
GRCh38 GRCh37 |
87 | 143 | |
DGAT1 | - | - |
GRCh38 GRCh38 GRCh37 |
554 | 728 | |
EEF1D | - | - |
GRCh38 GRCh38 GRCh37 |
86 | 146 |
There are 54 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 4, 2018 | RCV001006150.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023