ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q25.2(chr15:82130136-82727529)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 | |||
RPS17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
21 | 47 | |
AP3B2 | - | - |
GRCh38 GRCh37 |
14 | 817 | |
CPEB1 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 66 | |
CPEB1-AS1 | - | - | - | GRCh38 | - | 754 |
EFL1 | - | - |
GRCh38 GRCh37 |
439 | 469 | |
GOLGA6L10 | - | - | - |
GRCh38 GRCh38 |
49 | 52 |
GOLGA6L9 | - | - | - |
GRCh38 GRCh38 |
- | 3 |
LOC102724034 | - | - | - |
GRCh38 GRCh38 |
- | 3 |
LOC113939947 | - | - | - | GRCh38 | - | 24 |
LOC129390726 | - | - | - | GRCh38 | - | 9 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV003327650.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024