ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:5308495-5619495)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
C1QBP | - | - |
GRCh38 GRCh37 |
113 | 168 | |
DERL2 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
DHX33 | - | - |
GRCh38 GRCh37 |
45 | 71 | |
MIS12 | - | - |
GRCh38 GRCh37 |
9 | 36 | |
NLRP1 | - | - |
GRCh38 GRCh37 |
934 | 989 | |
NUP88 | - | - |
GRCh38 GRCh37 |
71 | 107 | |
RPAIN | - | - |
GRCh38 GRCh37 |
12 | 41 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003987232.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024