ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_77385207)_(78135259_?)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 | |||
AP3B1 | - | - |
GRCh38 GRCh37 |
780 | 792 | |
ARSB | - | - |
GRCh38 GRCh37 |
710 | 956 | |
LHFPL2 | - | - |
GRCh38 GRCh37 |
10 | 22 | |
SCAMP1 | - | - |
GRCh38 GRCh37 |
2 | 14 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 13, 2022 | RCV001386245.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023