ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.43(chr19:56353449-58445521)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 | |
A1BG-AS1 | - | - | - | GRCh38 | - | 26 |
AURKC | - | - |
GRCh38 GRCh37 |
64 | 87 | |
C19orf18 | - | - | - |
GRCh38 GRCh37 |
- | 22 |
DUXA | - | - |
GRCh38 GRCh37 |
16 | 38 | |
ERVK3-1 | - | - | - | GRCh38 | - | 11 |
LINC02560 | - | - | - | GRCh38 | - | 11 |
There are 171 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jul 16, 2013 | RCV000141900.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024