ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_50411496)_(50766697_?)dup
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 | |||
ATF5 | - | - |
GRCh38 GRCh37 |
9 | 24 | |
IL4I1 | - | - |
GRCh38 GRCh37 |
34 | 227 | |
IZUMO2 | - | - |
GRCh38 GRCh37 |
20 | 40 | |
MYH14 | - | - |
GRCh38 GRCh37 |
1240 | 1277 | |
NUP62 | - | - |
GRCh38 GRCh37 |
- | 193 | |
SIGLEC11 | - | - |
GRCh38 GRCh37 |
81 | 96 | |
VRK3 | - | - |
GRCh38 GRCh37 |
22 | 40 | |
ZNF473 | - | - |
GRCh38 GRCh37 |
53 | 71 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 23, 2022 | RCV003122710.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024