ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3
Germline
Classification
(1)
Likely 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 |
2050 | 2164 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
117 | 175 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
21 | 60 | |
ACAN | - | - |
GRCh38 GRCh37 |
1127 | 1161 | |
AEN | - | - |
GRCh38 GRCh37 |
30 | 61 | |
AGBL1 | - | - |
GRCh38 GRCh37 |
136 | 172 | |
ANPEP | - | - |
GRCh38 GRCh37 |
63 | 121 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 53 | |
ARPIN | - | - |
GRCh38 GRCh37 |
- | 71 | |
ARPIN-AP3S2 | - | - | - |
GRCh38 GRCh37 |
- | 79 |
There are 47 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
|
Likely pathogenic (1) |
|
May 22, 2013 | RCV000511629.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024