ClinVar Genomic variation as it relates to human health
NC_000016.10:g.88779266_88827672del
Germline
Classification
(1)
Likely 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 | |||
APRT | - | - |
GRCh38 GRCh37 |
130 | 243 | |
CDT1 | - | - |
GRCh38 GRCh37 |
388 | 489 | |
GALNS | - | - |
GRCh38 GRCh37 |
1054 | 1341 | |
LOC126862447 | - | - | - | GRCh38 | - | 120 |
LOC130059753 | - | - | - | GRCh38 | - | 29 |
LOC130059754 | - | - | - | GRCh38 | - | 29 |
LOC130059755 | - | - | - | GRCh38 | - | 29 |
LOC130059756 | - | - | - | GRCh38 | - | 29 |
LOC130059757 | - | - | - | GRCh38 | - | 29 |
LOC130059758 | - | - | - | GRCh38 | - | 29 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 1, 2021 | RCV001578467.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023