ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1
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 | 70 | |
ARID3B | - | - |
GRCh38 GRCh37 |
24 | 65 | |
BBS4 | - | - |
GRCh38 GRCh37 |
738 | 779 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 61 |
CCDC33 | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 115 | |
CD276 | - | - |
GRCh38 GRCh37 |
46 | 82 | |
CLK3 | - | - |
GRCh38 GRCh37 |
26 | 79 | |
COX5A | - | - |
GRCh38 GRCh37 |
11 | 61 | |
CPLX3 | - | - |
GRCh38 GRCh37 |
14 | 56 | |
CSK | - | - |
GRCh38 GRCh37 |
4 | 53 |
There are 29 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240271.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023