ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)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 | |||
ADPGK | - | - |
GRCh38 GRCh37 |
24 | 70 | |
ADPGK-AS1 | - | - | - | GRCh38 | - | 16 |
ARIH1 | - | - |
GRCh38 GRCh37 |
183 | 209 | |
BBS4 | - | - |
GRCh38 GRCh37 |
738 | 779 | |
CD276 | - | - |
GRCh38 GRCh37 |
46 | 82 | |
CELF6 | - | - |
GRCh38 GRCh37 |
21 | 41 | |
CT62 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
DRAIC | - | - | GRCh38 | - | 2 | |
EWSAT1 | - | - | GRCh38 | - | 3 | |
GLCE | - | - |
GRCh38 GRCh37 |
21 | 35 |
There are 188 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 | RCV000050780.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024