ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)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 | |||
EBF3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
229 | 331 | |
ADAM8 | - | - |
GRCh38 GRCh37 |
101 | 214 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
52 | 166 | |
ADGRA1-AS1 | - | - | - | GRCh38 | - | 43 |
AS-PTPRE | - | - | - | GRCh38 | - | 32 |
BNIP3 | - | - |
GRCh38 GRCh37 |
5 | 116 | |
C10orf143 | - | - | - | GRCh38 | - | 36 |
CALY | - | - |
GRCh38 GRCh37 |
- | 127 | |
CFAP46 | - | - |
GRCh38 GRCh37 |
105 | 225 | |
CLRN3 | - | - |
GRCh38 GRCh37 |
21 | 108 |
There are 191 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 23, 2013 | RCV000143615.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024