ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3
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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1793 | 2126 | |
HIVEP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
952 | 966 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 86 | |
TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
153 | 319 | |
CITED2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
42 | 76 | |
HYMAI | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 18 | |
IGF2R | No evidence available | No evidence available |
GRCh38 GRCh37 |
150 | 179 | |
PLAGL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 58 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
6 | 21 |
ACAT2 | - | - |
GRCh38 GRCh37 |
26 | 58 |
There are 994 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 4, 2013 | RCV000143444.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024