ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3
Germline
Classification
(1)
Likely benign
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 |
18 | 485 | |
CTNS | - | - |
GRCh38 GRCh37 |
511 | 922 | |
CTNS-AS1 | - | - | - | GRCh38 | - | 322 |
EMC6 | - | - |
GRCh38 GRCh37 |
- | 54 | |
HASPIN | - | - |
GRCh38 GRCh37 |
- | 106 | |
ITGAE | - | - |
GRCh38 GRCh37 |
82 | 190 | |
LOC100288728 | - | - | - |
GRCh38 GRCh37 |
- | 55 |
LOC106799838 | - | - | - | GRCh38 | - | 18 |
LOC121848005 | - | - | - | GRCh38 | - | 17 |
LOC126862463 | - | - | - | GRCh38 | - | 24 |
There are 39 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 |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Oct 21, 2014 | RCV000143610.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024