ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_48932462)_(49840657_?)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 | |||
CLCN5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
328 | 585 | |
WDR45 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
361 | 645 | |
SYP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
47 | 222 | |
CACNA1F | - | - |
GRCh38 GRCh37 |
1136 | 1382 | |
CCDC22 | - | - |
GRCh38 GRCh37 |
142 | 305 | |
FOXP3 | - | - |
GRCh38 GRCh37 |
328 | 491 | |
GAGE1 | - | - |
GRCh38 GRCh37 |
- | 165 | |
GAGE12B | - | - | - |
GRCh38 GRCh37 |
- | 166 |
GAGE12C | - | - |
GRCh38 GRCh37 |
1 | 162 | |
GAGE12D | - | - |
GRCh38 GRCh37 |
4 | 165 |
There are 23 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) |
|
Dec 20, 2021 | RCV001922920.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023