ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3
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 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
112 | 170 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
15 | 53 | |
ACAN | - | - |
GRCh38 GRCh37 |
1062 | 1095 | |
ANPEP | - | - |
GRCh38 GRCh37 |
48 | 101 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 48 | |
ARPIN | - | - |
GRCh38 GRCh37 |
- | 57 | |
ARPIN-AP3S2 | - | - | - |
GRCh38 GRCh37 |
- | 61 |
ARRDC4 | - | - |
GRCh38 GRCh37 |
19 | 88 | |
BLM | - | - |
GRCh38 GRCh37 |
4170 | 4221 |
There are 303 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) |
|
Dec 10, 2012 | RCV000142727.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023