ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)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 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
19 | 57 | |
ACAN | - | - |
GRCh38 GRCh37 |
1103 | 1136 | |
AEN | - | - |
GRCh38 GRCh37 |
25 | 56 | |
ANPEP | - | - |
GRCh38 GRCh37 |
58 | 113 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 52 | |
ARPIN | - | - |
GRCh38 GRCh37 |
- | 67 | |
ARPIN-AP3S2 | - | - | - |
GRCh38 GRCh37 |
- | 75 |
BLM | - | - |
GRCh38 GRCh37 |
4287 | 4338 | |
C15orf32 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
There are 42 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 7, 2021 | RCV001795547.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023