ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3
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 | |||
ADAMTSL3 | - | - |
GRCh38 GRCh38 GRCh37 |
197 | 239 | |
AP3B2 | - | - |
GRCh38 GRCh37 |
13 | 810 | |
BNC1 | - | - |
GRCh38 GRCh37 |
59 | 94 | |
BTBD1 | - | - |
GRCh38 GRCh37 |
18 | 55 | |
C15orf40 | - | - | - |
GRCh38 GRCh37 |
3 | 44 |
CPEB1 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 64 | |
CPEB1-AS1 | - | - | - | GRCh38 | - | 748 |
FSD2 | - | - | - |
GRCh38 GRCh37 |
45 | 83 |
HDGFL3 | - | - | GRCh38 | - | 25 | |
HOMER2 | - | - |
GRCh38 GRCh37 |
142 | 177 |
There are 64 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051826.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023