ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_4479509)_(6235003_?)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 | |||
AKAP3 | - | - |
GRCh38 GRCh37 |
34 | 121 | |
ANO2 | - | - |
GRCh38 GRCh37 |
6 | 61 | |
C12orf4 | - | - |
GRCh38 GRCh37 |
15 | 50 | |
DYRK4 | - | - |
GRCh38 GRCh37 |
25 | 86 | |
FGF23 | - | - |
GRCh38 GRCh37 |
196 | 259 | |
FGF6 | - | - |
GRCh38 GRCh37 |
13 | 76 | |
GALNT8 | - | - |
GRCh38 GRCh37 |
42 | 101 | |
KCNA1 | - | - |
GRCh38 GRCh37 |
568 | 662 | |
KCNA5 | - | - |
GRCh38 GRCh37 |
478 | 540 | |
KCNA6 | - | - |
GRCh38 GRCh37 |
18 | 79 |
There are 4 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 9, 2020 | RCV001294847.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022