ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.1(chr15:92170113-93438995)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 | |||
CHD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2029 | 2142 | |
C15orf32 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
CHASERR | - | - | - | GRCh38 | - | 11 |
FAM174B | - | - | - |
GRCh38 GRCh37 |
2 | 45 |
LINC00930 | - | - | - | GRCh38 | - | 11 |
LOC104613533 | - | - | - | GRCh38 | - | 11 |
LOC105370980 | - | - | - | GRCh38 | - | 16 |
LOC108251791 | - | - | - | GRCh38 | - | 11 |
LOC112296176 | - | - | - | GRCh38 | - | 11 |
LOC125146357 | - | - | - | GRCh38 | - | 11 |
There are 40 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053225.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023