ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2(chr17:18800138-19238772)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 | |||
EPN2 | - | - |
GRCh38 GRCh37 |
22 | 131 | |
FAM83G | - | - |
GRCh38 GRCh37 |
- | 195 | |
GRAP | - | - |
GRCh38 GRCh37 |
4 | 119 | |
GRAPL | - | - | - |
GRCh38 GRCh37 |
- | 109 |
PRPSAP2 | - | - |
GRCh38 GRCh37 |
7 | 129 | |
SLC5A10 | - | - |
GRCh38 GRCh37 |
35 | 237 | |
SNORD3A | - | - |
GRCh38 GRCh37 |
- | 106 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 8, 2017 | RCV000683908.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022