ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_41277754)_(43089957_?)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 | |||
EP300 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1513 | 1645 | |
TCF20 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
840 | 874 | |
A4GALT | - | - |
GRCh38 GRCh37 |
86 | 130 | |
ACO2 | - | - |
GRCh38 GRCh37 |
503 | 772 | |
ATP5MGL | - | - | - |
GRCh38 GRCh37 |
- | 48 |
CCDC134 | - | - |
GRCh38 GRCh37 |
21 | 51 | |
CENPM | - | - |
GRCh38 GRCh37 |
5 | 37 | |
CHADL | - | - |
GRCh38 GRCh37 |
75 | 110 | |
CSDC2 | - | - |
GRCh38 GRCh37 |
10 | 36 | |
CYB5R3 | - | - |
GRCh38 GRCh37 |
192 | 246 |
There are 30 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) |
|
Aug 12, 2021 | RCV001979926.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023