ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)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 | |||
RPS17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
21 | 47 | |
ABHD17C | - | - |
GRCh38 GRCh37 |
7 | 37 | |
AP3B2 | - | - |
GRCh38 GRCh37 |
16 | 819 | |
ARNT2 | - | - |
GRCh38 GRCh37 |
187 | 215 | |
BNC1 | - | - |
GRCh38 GRCh37 |
68 | 103 | |
BTBD1 | - | - |
GRCh38 GRCh37 |
19 | 56 | |
C15orf40 | - | - | - |
GRCh38 GRCh37 |
3 | 47 |
CEMIP | - | - |
GRCh38 GRCh37 |
150 | 193 | |
CFAP161 | - | - | - |
GRCh38 GRCh37 |
23 | 45 |
CPEB1 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 66 |
There are 14 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) |
|
Oct 26, 2017 | RCV000849378.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023