ClinVar Genomic variation as it relates to human health
NC_000017.11:g.(?_3489235)_(3729555_?)del
Germline
Classification
(2)
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 | |||
ASPA | - | - |
GRCh38 GRCh37 |
13 | 474 | |
CTNS | - | - |
GRCh38 GRCh37 |
501 | - | |
CTNS-AS1 | - | - | - | GRCh38 | - | - |
EMC6 | - | - |
GRCh38 GRCh37 |
- | - | |
HASPIN | - | - |
GRCh38 GRCh37 |
- | 65 | |
ITGAE | - | - |
GRCh38 GRCh37 |
55 | - | |
LOC126862463 | - | - | - | GRCh38 | - | 24 |
LOC126862464 | - | - | - | GRCh38 | - | 53 |
LOC129390823 | - | - | - | GRCh38 | - | 20 |
LOC129390824 | - | - | - | GRCh38 | - | 20 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV000707830.3 | |
Uncertain significance (1) |
|
Sep 16, 2021 | RCV001861925.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023