ClinVar Genomic variation as it relates to human health
chr19:56133299..57648277 complex variant
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 | |||
PEG3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 163 | |
ZIM2 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 191 |
CCDC106 | - | - |
GRCh38 GRCh37 |
23 | 51 | |
EPN1 | - | - |
GRCh38 GRCh37 |
58 | 91 | |
GALP | - | - |
GRCh38 GRCh37 |
11 | 43 | |
NLRP11 | - | - |
GRCh38 GRCh37 |
85 | 127 | |
NLRP13 | - | - |
GRCh38 GRCh37 |
94 | 128 | |
NLRP4 | - | - |
GRCh38 GRCh37 |
96 | 133 | |
NLRP5 | - | - |
GRCh38 GRCh37 |
189 | 277 | |
NLRP8 | - | - |
GRCh38 GRCh37 |
87 | 121 |
There are 23 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207023.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024