ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.43(chr19:56706500-58956888)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 | |||
PEG3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 163 | |
ZIM2 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 191 |
ZNF264 | No evidence available | No evidence available |
GRCh38 GRCh37 |
57 | 80 | |
A1BG | - | - |
GRCh38 GRCh37 |
32 | 64 | |
AURKC | - | - |
GRCh38 GRCh37 |
64 | 87 | |
C19orf18 | - | - | - |
GRCh38 GRCh37 |
- | 22 |
DUXA | - | - |
GRCh38 GRCh37 |
16 | 38 | |
RPS5 | - | - |
GRCh38 GRCh37 |
5 | 23 | |
SMIM17 | - | - | - |
GRCh38 GRCh37 |
- | 40 |
USP29 | - | - |
GRCh38 GRCh37 |
64 | 88 |
There are 56 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 3, 2014 | RCV000512396.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024