ClinVar Genomic variation as it relates to human health
NM_001025778.1(VRK3):c.-376583_-65+1628dup
Germline
Classification
(1)
not provided
no classification 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 | |||
POLD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4875 | 4924 | |
IZUMO2 | - | - |
GRCh38 GRCh37 |
19 | 39 | |
KCNC3 | - | - |
GRCh38 GRCh37 |
303 | 373 | |
LOC111811967 | - | - | - | GRCh38 | - | 45 |
LOC121852992 | - | - | - | GRCh38 | - | 21 |
LOC125384525 | - | - | - | GRCh38 | - | 7 |
LOC130064961 | - | - | - | GRCh38 | - | 4 |
LOC130064962 | - | - | - | GRCh38 | - | 4 |
LOC130064963 | - | - | - | GRCh38 | - | 4 |
LOC130064964 | - | - | - | GRCh38 | - | 4 |
There are 38 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV000161882.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024