ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_3392509)_(3571820_?)del
Germline
Classification
(3)
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 | |||
ASPA | - | - |
GRCh38 GRCh37 |
13 | 475 | |
CTNS | - | - |
GRCh38 GRCh37 |
504 | 910 | |
SHPK | - | - |
GRCh38 GRCh37 |
153 | 270 | |
TAX1BP3 | - | - |
GRCh38 GRCh37 |
- | 88 | |
TRPV1 | - | - |
GRCh38 GRCh37 |
77 | 169 | |
TRPV3 | - | - |
GRCh38 GRCh37 |
275 | 449 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV002014486.3 | |
no classifications from unflagged records (1) |
|
- | RCV003120773.5 | |
Pathogenic (1) |
|
Oct 28, 2022 | RCV003120774.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023