ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q26.3(chr10:131914873-133613938)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 | |||
ADAM8 | - | - |
GRCh38 GRCh37 |
93 | 206 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
45 | 159 | |
ADGRA1-AS1 | - | - | - | GRCh38 | - | 43 |
BNIP3 | - | - |
GRCh38 GRCh37 |
4 | 115 | |
CALY | - | - |
GRCh38 GRCh37 |
- | 126 | |
CFAP46 | - | - |
GRCh38 GRCh37 |
91 | 211 | |
CYP2E1 | - | - |
GRCh38 GRCh37 |
27 | 211 | |
DPYSL4 | - | - |
GRCh38 GRCh37 |
39 | 140 | |
ECHS1 | - | - |
GRCh38 GRCh37 |
293 | 460 | |
FUOM | - | - |
GRCh38 GRCh37 |
10 | 125 |
There are 107 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052643.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023