ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_35776672)_(42486826_?)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 |
1499 | 1630 | |
SOX10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 415 | |
TNRC6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
298 | 324 | |
ACO2 | - | - |
GRCh38 GRCh37 |
501 | 768 | |
ADSL | - | - |
GRCh38 GRCh37 |
834 | 862 | |
ANKRD54 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
APOBEC3A | - | - |
GRCh38 GRCh37 |
7 | 31 | |
APOBEC3B | - | - |
GRCh38 GRCh37 |
12 | 41 | |
APOBEC3C | - | - |
GRCh38 GRCh37 |
12 | 30 | |
APOBEC3D | - | - |
GRCh38 GRCh37 |
20 | 39 |
There are 124 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 20, 2022 | RCV003119093.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023