ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)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 |
496 | 536 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 60 |
COMMD4 | - | - |
GRCh38 GRCh37 |
11 | 49 | |
COX5A | - | - |
GRCh38 GRCh37 |
11 | 60 | |
CPLX3 | - | - |
GRCh38 GRCh37 |
14 | 54 | |
CSK | - | - |
GRCh38 GRCh37 |
4 | 51 | |
FAM219B | - | - | - |
GRCh38 GRCh37 |
21 | 68 |
GOLGA6C | - | - | - |
GRCh38 GRCh37 |
68 | 113 |
GOLGA6D | - | - | - |
GRCh38 GRCh37 |
35 | 76 |
LMAN1L | - | - |
GRCh38 GRCh37 |
39 | 79 |
There are 9 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) |
|
Jan 3, 2018 | RCV000683707.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022