ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1
Germline
Classification
(1)
Likely 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 |
214 | 256 | |
AP3B2 | - | - |
GRCh38 GRCh37 |
16 | 819 | |
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 |
145 | 180 | |
RAMAC | - | - |
GRCh38 GRCh37 |
- | 44 | |
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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 7, 2015 | RCV000225327.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023