ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_50731271)_(54025330_?)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 | |||
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1448 | 1527 | |
AP4E1 | - | - |
GRCh38 GRCh37 |
516 | 550 | |
ARPP19 | - | - |
GRCh38 GRCh37 |
1 | 23 | |
ATOSA | - | - |
GRCh38 GRCh37 |
53 | 73 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
9 | 42 | |
CYP19A1 | - | - |
GRCh38 GRCh37 |
11 | 515 | |
GLDN | - | - |
GRCh38 GRCh37 |
111 | 141 | |
GNB5 | - | - |
GRCh38 GRCh37 |
123 | 174 | |
LEO1 | - | - |
GRCh38 GRCh37 |
44 | 72 | |
LYSMD2 | - | - | - |
GRCh38 GRCh37 |
4 | 37 |
There are 13 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 3, 2022 | RCV003105626.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023