ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q22.31(chr6:120977382-121468709)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
286 | 311 | |
LOC129997089 | - | - | - | GRCh38 | - | 12 |
LOC129997090 | - | - | - | GRCh38 | - | 10 |
LOC132089324 | - | - | - | GRCh38 | - | 10 |
LOC132089325 | - | - | - | GRCh38 | - | 10 |
LOC132089326 | - | - | - | GRCh38 | - | 13 |
LOC132089327 | - | - | - | GRCh38 | - | 10 |
LOC132089328 | - | - | - | GRCh38 | - | 10 |
LOC132089329 | - | - | - | GRCh38 | - | 10 |
LOC132089330 | - | - | - | GRCh38 | - | 10 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 18, 2011 | RCV000135682.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023