ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_76907584)_(77381327_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
ATP7A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1947 | 2137 | |
ATRX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2277 | 2439 | |
MAGT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
215 | 410 | |
PGK1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
246 | 402 | |
COX7B | - | - |
GRCh38 GRCh37 |
28 | 190 | |
PGAM4 | - | - |
GRCh38 GRCh37 |
- | 172 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 13, 2023 | RCV004580084.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024