ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q26.1(chr15:91229877-93677014)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 |
2039 | 2152 | |
BLM | - | - |
GRCh38 GRCh37 |
4311 | 4363 | |
C15orf32 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
FAM174B | - | - | - |
GRCh38 GRCh37 |
2 | 45 |
FES | - | - |
GRCh38 GRCh37 |
48 | 95 | |
FURIN | - | - |
GRCh38 GRCh37 |
46 | 91 | |
HDDC3 | - | - | - |
GRCh38 GRCh37 |
- | 50 |
MAN2A2 | - | - |
GRCh38 GRCh37 |
82 | 128 | |
PRC1 | - | - |
GRCh38 GRCh37 |
2 | 101 | |
RCCD1 | - | - |
GRCh38 GRCh37 |
24 | 72 |
There are 6 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) |
|
Aug 23, 2017 | RCV000847986.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022