ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3
Germline
Classification
(1)
not provided
no classification 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 | |||
ATP2A3 | - | - |
GRCh38 GRCh37 |
89 | 128 | |
CAMKK1 | - | - |
GRCh38 GRCh37 |
21 | 59 | |
CTNS | - | - |
GRCh38 GRCh37 |
501 | 904 | |
EMC6 | - | - | - |
GRCh38 GRCh37 |
- | 53 |
HASPIN | - | - |
GRCh38 GRCh37 |
- | 65 | |
ITGAE | - | - |
GRCh38 GRCh37 |
55 | 122 | |
NCBP3 | - | - |
GRCh38 GRCh37 |
12 | 58 | |
P2RX1 | - | - |
GRCh38 GRCh37 |
52 | 89 | |
P2RX5 | - | - |
GRCh38 GRCh37 |
- | 85 | |
TAX1BP3 | - | - |
GRCh38 GRCh37 |
- | 85 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV001249276.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022