ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q24.2(chr15:75440382-76133553)x3
Germline
Classification
(1)
Uncertain significance
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 |
494 | 534 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 60 |
COMMD4 | - | - |
GRCh38 GRCh37 |
11 | 49 | |
CSPG4 | - | - |
GRCh38 GRCh37 |
187 | 223 | |
GOLGA6C | - | - | - |
GRCh38 GRCh37 |
68 | 113 |
GOLGA6D | - | - | - |
GRCh38 GRCh37 |
35 | 76 |
IMP3 | - | - |
GRCh38 GRCh37 |
16 | 55 | |
MAN2C1 | - | - |
GRCh38 GRCh37 |
74 | 139 | |
NEIL1 | - | - |
GRCh38 GRCh37 |
34 | 97 | |
ODF3L1 | - | - | - |
GRCh38 GRCh37 |
- | 23 |
There are 3 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 14, 2019 | RCV001259709.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022