ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_50999997)_(54025330_?)del
Germline
Classification
(2)
Pathogenic
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 |
1473 | 1553 | |
AP4E1 | - | - |
GRCh38 GRCh37 |
529 | 565 | |
ARPP19 | - | - |
GRCh38 GRCh37 |
1 | 23 | |
ATOSA | - | - |
GRCh38 GRCh37 |
62 | 82 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
10 | 43 | |
CYP19A1 | - | - |
GRCh38 GRCh37 |
15 | 524 | |
GLDN | - | - |
GRCh38 GRCh37 |
119 | 150 | |
GNB5 | - | - |
GRCh38 GRCh37 |
131 | 182 | |
LEO1 | - | - |
GRCh38 GRCh37 |
50 | 78 | |
LYSMD2 | - | - | - |
GRCh38 GRCh37 |
5 | 38 |
There are 10 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 4, 2022 | RCV003105621.4 | |
no classifications from unflagged records (1) |
|
- | RCV003105622.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024