ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1
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 | |||
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
287 | 311 | |
CLVS2 | - | - |
GRCh38 GRCh37 |
11 | 35 | |
FABP7 | - | - |
GRCh38 GRCh37 |
7 | 31 | |
FAM184A | - | - | - |
GRCh38 GRCh37 |
46 | 75 |
HDDC2 | - | - | - |
GRCh38 GRCh37 |
8 | 32 |
HEY2-AS1 | - | - | - | GRCh38 | - | 10 |
HSF2 | - | - |
GRCh38 GRCh37 |
10 | 32 | |
LINC02523 | - | - | - | GRCh38 | - | 10 |
LOC100126584 | - | - | - | GRCh38 | - | 10 |
LOC102723341 | - | - | - | GRCh38 | - | 10 |
There are 83 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052197.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023