ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |
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 |
CIB1 | - | - |
GRCh38 GRCh37 |
140 | 235 | |
CRTC3 | - | - |
GRCh38 GRCh37 |
7 | 73 |
There are 33 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 14, 2020 | RCV001827973.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023