ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)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 | |||
HIVEP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
923 | 937 | |
CITED2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
37 | 70 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
56 | 74 | |
TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
147 | 308 | |
HYMAI | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 18 | |
PLAGL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
33 | 51 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
4 | 19 |
ADAT2 | - | - |
GRCh38 GRCh37 |
8 | 23 | |
ADGB | - | - |
GRCh38 GRCh37 |
73 | 88 | |
ADGB-DT | - | - | - | GRCh38 | - | 6 |
There are 606 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) |
|
Oct 14, 2010 | RCV000136826.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023