ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)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 | |||
TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
146 | 307 | |
ADGB | - | - |
GRCh38 GRCh37 |
73 | 91 | |
ADGB-DT | - | - | - | GRCh38 | - | 6 |
AKAP12 | - | - |
GRCh38 GRCh37 |
91 | 114 | |
GINM1 | - | - | - |
GRCh38 GRCh37 |
13 | 35 |
IYD | - | - |
GRCh38 GRCh37 |
74 | 92 | |
KATNA1 | - | - |
GRCh38 GRCh37 |
15 | 35 | |
LATS1 | - | - |
GRCh38 GRCh37 |
29 | 47 | |
LOC102723831 | - | - | - | GRCh38 | - | 8 |
LOC105378052 | - | - | - | GRCh38 | - | 7 |
There are 164 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 | RCV000051005.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023