ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1
Germline
Classification
(1)
not provided
no classification 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 |
291 | 315 | |
CLVS2 | - | - |
GRCh38 GRCh37 |
14 | 38 | |
FABP7 | - | - |
GRCh38 GRCh37 |
9 | 33 | |
FAM184A | - | - | - |
GRCh38 GRCh37 |
61 | 90 |
HDDC2 | - | - | - |
GRCh38 GRCh37 |
16 | 41 |
HEY2 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
HSF2 | - | - |
GRCh38 GRCh37 |
17 | 39 | |
MAN1A1 | - | - |
GRCh38 GRCh37 |
26 | 57 | |
MCM9 | - | - |
GRCh38 GRCh37 |
99 | 137 | |
NKAIN2 | - | - |
GRCh38 GRCh37 |
19 | 53 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV002509028.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 15, 2023