ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_493125)_(998181_?)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 | |||
ATP5ME | - | - |
GRCh38 GRCh37 |
7 | 165 | |
CPLX1 | - | - |
GRCh38 GRCh37 |
67 | 222 | |
DGKQ | - | - |
GRCh38 GRCh37 |
108 | 267 | |
GAK | - | - |
GRCh38 GRCh37 |
85 | 268 | |
IDUA | - | - |
GRCh38 GRCh37 |
1386 | 2132 | |
MYL5 | - | - |
GRCh38 GRCh37 |
- | 173 | |
PCGF3 | - | - |
GRCh38 GRCh37 |
5 | 163 | |
PDE6B | - | - |
GRCh38 GRCh37 |
970 | 1258 | |
PIGG | - | - |
GRCh38 GRCh37 |
988 | 1158 | |
SLC26A1 | - | - |
GRCh38 GRCh37 |
3 | 748 |
There are 3 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 20, 2020 | RCV001382628.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023