ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1
Germline
Classification
(1)
Pathogenic
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 | |||
TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
147 | 308 | |
GINM1 | - | - | - |
GRCh38 GRCh37 |
13 | 33 |
KATNA1 | - | - |
GRCh38 GRCh37 |
15 | 33 | |
LOC107403234 | - | - | - | GRCh38 | - | 8 |
LOC113146423 | - | - | - | GRCh38 | - | 8 |
LOC121132710 | - | - | - | GRCh38 | - | 8 |
LOC123881325 | - | - | - | GRCh38 | - | 8 |
LOC123881326 | - | - | - | GRCh38 | - | 8 |
LOC123881327 | - | - | - | GRCh38 | - | 8 |
LOC123881328 | - | - | - | GRCh38 | - | 9 |
There are 61 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) |
|
Sep 16, 2011 | RCV000136969.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023