ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3
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 | |
CAMKK1 | - | - |
GRCh38 GRCh37 |
21 | 59 | |
CTNS | - | - |
GRCh38 GRCh37 |
501 | 904 | |
CTNS-AS1 | - | - | - | GRCh38 | - | 316 |
EMC6 | - | - |
GRCh38 GRCh37 |
- | 53 | |
HASPIN | - | - |
GRCh38 GRCh37 |
- | 65 | |
ITGAE | - | - |
GRCh38 GRCh37 |
55 | 122 | |
LOC100288728 | - | - | - |
GRCh38 GRCh37 |
- | 54 |
LOC106799838 | - | - | - | GRCh38 | - | 18 |
LOC121848005 | - | - | - | GRCh38 | - | 17 |
There are 40 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 18, 2013 | RCV000142062.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023