ClinVar Genomic variation as it relates to human health
NC_000013.10:g.(?_20716100)_(21398980_?)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 | |||
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
562 | 628 | |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
193 | 277 | |
CRYL1 | - | - |
GRCh38 GRCh37 |
106 | 203 | |
EEF1AKMT1 | - | - |
GRCh38 GRCh37 |
1 | 52 | |
GJA3 | - | - |
GRCh38 GRCh37 |
241 | 301 | |
IFT88 | - | - |
GRCh38 GRCh37 |
421 | 478 | |
IL17D | - | - |
GRCh38 GRCh37 |
11 | 73 | |
LOC112163647 | - | - | - | GRCh38 | - | 28 |
LOC121466728 | - | - | - | GRCh38 | - | 24 |
LOC124849292 | - | - | - | GRCh38 | - | 23 |
There are 24 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 1, 2018 | RCV000813338.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023