ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:3394299-3632836)
Germline
Classification
(1)
Uncertain significance
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 | |||
ASPA | - | - |
GRCh38 GRCh37 |
13 | 474 | |
CTNS | - | - |
GRCh38 GRCh37 |
501 | 904 | |
EMC6 | - | - |
GRCh38 GRCh37 |
- | 53 | |
HASPIN | - | - |
GRCh38 GRCh37 |
- | 65 | |
ITGAE | - | - |
GRCh38 GRCh37 |
55 | 122 | |
P2RX5 | - | - |
GRCh38 GRCh37 |
- | 85 | |
SHPK | - | - |
GRCh38 GRCh37 |
146 | 263 | |
TAX1BP3 | - | - |
GRCh38 GRCh37 |
- | 85 | |
TRPV1 | - | - |
GRCh38 GRCh37 |
62 | 154 | |
TRPV3 | - | - |
GRCh38 GRCh37 |
258 | 432 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 16, 2020 | RCV001195115.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024