ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_102283594)_(102510668_?)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 | |||
PAX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
445 | 466 | |
HIF1AN | - | - |
GRCh38 GRCh37 |
6 | 24 | |
NDUFB8 | - | - |
GRCh38 GRCh37 |
76 | 94 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 4, 2022 | RCV003107788.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024