ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)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 | |||
SIN3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
514 | 555 | |
ARID3B | - | - |
GRCh38 GRCh37 |
29 | 70 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 61 |
CCDC33 | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 123 | |
CLK3 | - | - |
GRCh38 GRCh37 |
30 | 87 | |
COMMD4 | - | - |
GRCh38 GRCh37 |
15 | 54 | |
COX5A | - | - |
GRCh38 GRCh37 |
13 | 63 | |
CPLX3 | - | - |
GRCh38 GRCh37 |
14 | 56 | |
CSK | - | - |
GRCh38 GRCh37 |
4 | 54 | |
CSPG4 | - | - |
GRCh38 GRCh37 |
206 | 243 |
There are 26 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) |
|
Apr 27, 2020 | RCV001259708.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023