ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)
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 |
101 | 214 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
52 | 166 | |
BNIP3 | - | - |
GRCh38 GRCh37 |
5 | 116 | |
CALY | - | - |
GRCh38 GRCh37 |
- | 127 | |
CFAP46 | - | - |
GRCh38 GRCh37 |
105 | 225 | |
CYP2E1 | - | - |
GRCh38 GRCh37 |
29 | 215 | |
DPYSL4 | - | - |
GRCh38 GRCh37 |
47 | 148 | |
EBF3 | - | - |
GRCh38 GRCh37 |
229 | 331 | |
ECHS1 | - | - |
GRCh38 GRCh37 |
298 | 465 | |
FUOM | - | - |
GRCh38 GRCh37 |
11 | 126 |
There are 24 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052908.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022