ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3
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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1774 | 2100 | |
HIVEP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
923 | 937 | |
TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
147 | 308 | |
UNC93A | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
28 | 86 | |
HYMAI | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 18 | |
IGF2R | No evidence available | No evidence available |
GRCh38 GRCh37 |
119 | 145 | |
PLAGL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
33 | 51 | |
ACAT2 | - | - |
GRCh38 GRCh37 |
20 | 51 | |
ADAT2 | - | - |
GRCh38 GRCh37 |
8 | 23 | |
ADGB | - | - |
GRCh38 GRCh37 |
73 | 88 |
There are 857 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 | RCV000050604.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023