ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
229 | 331 | |
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
25 | 85 | |
ADAM12 | - | - |
GRCh38 GRCh37 |
62 | 135 | |
ADAM8 | - | - |
GRCh38 GRCh37 |
101 | 214 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
52 | 166 | |
BCCIP | - | - |
GRCh38 GRCh37 |
15 | 276 | |
BNIP3 | - | - |
GRCh38 GRCh37 |
5 | 116 | |
C10orf90 | - | - |
GRCh38 GRCh37 |
14 | 87 | |
CALY | - | - |
GRCh38 GRCh37 |
- | 127 | |
CFAP46 | - | - |
GRCh38 GRCh37 |
105 | 225 |
There are 46 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) |
|
- | RCV003986878.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024