ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_41126341)_(43752536_?)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 | |||
PPP2R5D | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
478 | 533 | |
VEGFA | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
68 | 86 | |
ABCC10 | - | - |
GRCh38 GRCh37 |
106 | 135 | |
BICRAL | - | - |
GRCh38 GRCh37 |
73 | 84 | |
BYSL | - | - |
GRCh38 GRCh37 |
35 | 62 | |
C6orf132 | - | - |
GRCh38 GRCh37 |
20 | 33 | |
CCND3 | - | - |
GRCh38 GRCh37 |
17 | 27 | |
CNPY3 | - | - |
GRCh38 GRCh37 |
- | 58 | |
CRIP3 | - | - | - |
GRCh38 GRCh37 |
12 | 23 |
CUL7 | - | - |
GRCh38 GRCh37 |
740 | 766 |
There are 50 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) |
|
Aug 29, 2022 | RCV003110948.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024