ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3
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 | |||
ADPGK | - | - |
GRCh38 GRCh37 |
24 | 69 | |
ADPGK-AS1 | - | - | - | GRCh38 | - | 16 |
ARID3B | - | - |
GRCh38 GRCh37 |
24 | 63 | |
BBS4 | - | - |
GRCh38 GRCh37 |
718 | 758 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 60 |
CCDC33 | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 113 | |
CD276 | - | - |
GRCh38 GRCh37 |
46 | 81 | |
CLK3 | - | - |
GRCh38 GRCh37 |
26 | 77 | |
COX5A | - | - |
GRCh38 GRCh37 |
11 | 60 | |
CPLX3 | - | - |
GRCh38 GRCh37 |
14 | 54 |
There are 196 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) |
|
Aug 12, 2011 | RCV000051821.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024