ClinVar Genomic variation as it relates to human health
NC_000013.11:g.20222821_20531941del
Germline
Classification
(1)
Pathogenic
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 | |||
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 273 | |
CRYL1 | - | - |
GRCh38 GRCh37 |
104 | 198 | |
LOC112163647 | - | - | - | GRCh38 | - | 28 |
LOC126861704 | - | - | - | GRCh38 | - | 35 |
LOC126861705 | - | - | - | GRCh38 | - | 36 |
LOC130009316 | - | - | - | GRCh38 | - | 34 |
LOC130009317 | - | - | - | GRCh38 | - | 34 |
LOC130009318 | - | - | - | GRCh38 | - | 34 |
LOC130009319 | - | - | - | GRCh38 | - | 34 |
LOC130009320 | - | - | - | GRCh38 | - | 31 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003225707.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023