ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)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 | |||
ADPGK | - | - |
GRCh38 GRCh37 |
13 | 55 | |
ADPGK-AS1 | - | - | - | GRCh38 | - | 13 |
ARID3B | - | - |
GRCh38 GRCh37 |
19 | - | |
BBS4 | - | - |
GRCh38 GRCh37 |
717 | 757 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 60 |
CCDC33 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 96 | |
CD276 | - | - |
GRCh38 GRCh37 |
35 | - | |
CLK3 | - | - |
GRCh38 GRCh37 |
- | 67 | |
COX5A | - | - |
GRCh38 GRCh37 |
9 | 57 | |
CPLX3 | - | - |
GRCh38 GRCh37 |
12 | 52 |
There are 194 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000142748.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023