ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)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 |
152 | 318 | |
GINM1 | - | - | - |
GRCh38 GRCh37 |
17 | 37 |
IYD | - | - |
GRCh38 GRCh37 |
80 | 95 | |
KATNA1 | - | - |
GRCh38 GRCh37 |
24 | 42 | |
LATS1 | - | - |
GRCh38 GRCh37 |
43 | 59 | |
LOC105378052 | - | - | - | GRCh38 | - | 7 |
LOC107403234 | - | - | - | GRCh38 | - | 8 |
LOC108348020 | - | - | - | GRCh38 | - | 8 |
LOC110121225 | - | - | - | GRCh38 | - | 7 |
LOC113146423 | - | - | - | GRCh38 | - | 8 |
There are 123 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) |
|
Jul 30, 2009 | RCV000135408.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024