ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.2(chr15:82606408-84970771)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 | |||
RPS17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
20 | 46 | |
ADAMTSL3 | - | - |
GRCh38 GRCh38 GRCh37 |
214 | 256 | |
AP3B2 | - | - |
GRCh38 GRCh37 |
14 | 817 | |
BNC1 | - | - |
GRCh38 GRCh37 |
68 | 103 | |
BTBD1 | - | - |
GRCh38 GRCh37 |
19 | 56 | |
C15orf40 | - | - | - |
GRCh38 GRCh37 |
3 | 47 |
CPEB1 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 66 | |
FSD2 | - | - | - |
GRCh38 GRCh37 |
53 | 91 |
HOMER2 | - | - |
GRCh38 GRCh37 |
142 | 177 | |
RAMAC | - | - |
GRCh38 GRCh37 |
- | 44 |
There are 4 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 22, 2014 | RCV000512491.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024