ClinVar Genomic variation as it relates to human health
NC_000020.11:g.(?_48921870)_(49482500_?)del
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 | |||
ARFGEF2 | - | - |
GRCh38 GRCh37 |
681 | 708 | |
CSE1L | - | - |
GRCh38 GRCh37 |
32 | 45 | |
DDX27 | - | - |
GRCh38 GRCh37 |
43 | 58 | |
KCNB1 | - | - |
GRCh38 GRCh37 |
728 | 743 | |
STAU1 | - | - |
GRCh38 GRCh37 |
22 | 38 | |
ZNFX1 | - | - |
GRCh38 GRCh37 |
164 | 179 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 17, 2019 | RCV001031370.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024