ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_134916201)_(135439108_?)del
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 | |
CALY | - | - |
GRCh38 GRCh37 |
- | 126 | |
CYP2E1 | - | - |
GRCh38 GRCh37 |
27 | 211 | |
ECHS1 | - | - |
GRCh38 GRCh37 |
293 | 460 | |
FRG2B | - | - | - |
GRCh38 GRCh37 |
3 | 13 |
FUOM | - | - |
GRCh38 GRCh37 |
10 | 125 | |
KNDC1 | - | - |
GRCh38 GRCh37 |
155 | 269 | |
MTG1 | - | - | - |
GRCh38 GRCh37 |
28 | 155 |
PAOX | - | - |
GRCh38 GRCh37 |
28 | 154 |
There are 7 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) |
|
Sep 16, 2021 | RCV001972520.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 24, 2022