ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)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 |
2085 | 2199 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
21 | 60 | |
ACAN | - | - |
GRCh38 GRCh37 |
1144 | 1178 | |
AEN | - | - |
GRCh38 GRCh37 |
30 | 61 | |
ANPEP | - | - |
GRCh38 GRCh37 |
63 | 121 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 53 | |
ARPIN | - | - |
GRCh38 GRCh37 |
- | 71 | |
ARPIN-AP3S2 | - | - | - |
GRCh38 GRCh37 |
- | 79 |
BLM | - | - |
GRCh38 GRCh37 |
4376 | 4428 | |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000448680.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024