ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_3190178)_(3903961_?)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 | |||
ADAM33 | - | - |
GRCh38 GRCh37 |
63 | 109 | |
ADISSP | - | - |
GRCh38 GRCh37 |
1 | 37 | |
AP5S1 | - | - |
GRCh38 GRCh37 |
24 | 68 | |
ATRN | - | - |
GRCh38 GRCh37 |
293 | 382 | |
CDC25B | - | - |
GRCh38 GRCh37 |
24 | 79 | |
CENPB | - | - |
GRCh38 GRCh37 |
28 | 72 | |
DNAAF9 | - | - |
GRCh38 GRCh37 |
4 | 53 | |
GFRA4 | - | - |
GRCh38 GRCh37 |
18 | 70 | |
HSPA12B | - | - |
GRCh38 GRCh37 |
54 | 99 | |
ITPA | - | - |
GRCh38 GRCh37 |
272 | 365 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 4, 2020 | RCV001363028.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024