ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.2(chr15:83214012-84772030)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 | |||
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 | |
FSD2 | - | - | - |
GRCh38 GRCh37 |
45 | 83 |
HOMER2 | - | - |
GRCh38 GRCh37 |
142 | 177 | |
RAMAC | - | - |
GRCh38 GRCh37 |
- | 41 | |
SCARNA15 | - | - |
GRCh38 GRCh37 |
- | 38 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 1, 2019 | RCV000856636.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024