ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_49547968)_(50685477_?)del
Germline
Classification
(1)
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 | |||
AMIGO3 | - | - |
GRCh38 GRCh37 |
- | 42 | |
APEH | - | - |
GRCh38 GRCh37 |
29 | 40 | |
BSN | - | - |
GRCh38 GRCh37 |
339 | 355 | |
C3orf18 | - | - | - |
GRCh38 GRCh37 |
3 | 23 |
CACNA2D2 | - | - |
GRCh38 GRCh37 |
696 | 1136 | |
CAMKV | - | - |
GRCh38 GRCh37 |
14 | 24 | |
CDHR4 | - | - | - |
GRCh38 GRCh37 |
50 | 60 |
CISH | - | - |
GRCh38 GRCh37 |
20 | 31 | |
CYB561D2 | - | - |
GRCh38 GRCh37 |
- | 460 | |
DAG1 | - | - |
GRCh38 GRCh37 |
663 | 680 |
There are 30 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 17, 2021 | RCV001970206.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023