ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(?_42925375)_(42959176_?)del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
SLC2A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1042 | 1083 | |
LOC121725020 | - | - | - | GRCh38 | - | 7 |
LOC129930362 | - | - | - | GRCh38 | - | 7 |
LOC129930363 | - | - | - | GRCh38 | - | 7 |
LOC129930364 | - | - | - | GRCh38 | - | 7 |
LOC129930365 | - | - | - | GRCh38 | - | 7 |
LOC129930366 | - | - | - | GRCh38 | - | 7 |
LOC129930367 | - | - | - | GRCh38 | - | 7 |
LOC129930368 | - | - | - | GRCh38 | - | 7 |
LOC129930369 | - | - | - | GRCh38 | - | 20 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 1, 2000 | RCV000017485.28 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 30, 2023
Deletion of gene SLC2A1.