ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)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 | |||
EBF3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
224 | 326 | |
ADAM8 | - | - |
GRCh38 GRCh37 |
93 | 206 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
45 | 159 | |
BNIP3 | - | - |
GRCh38 GRCh37 |
4 | 115 | |
CALY | - | - |
GRCh38 GRCh37 |
- | 126 | |
CFAP46 | - | - |
GRCh38 GRCh37 |
91 | 211 | |
CLRN3 | - | - |
GRCh38 GRCh37 |
20 | 107 | |
CYP2E1 | - | - |
GRCh38 GRCh37 |
27 | 211 | |
DOCK1 | - | - |
GRCh38 GRCh37 |
100 | 244 | |
DPYSL4 | - | - |
GRCh38 GRCh37 |
39 | 140 |
There are 29 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) |
|
Jan 5, 2015 | RCV000512398.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024