ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)
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 | |||
HIVEP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
923 | 937 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
56 | 74 | |
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 | |
ADGRG6 | - | - |
GRCh38 GRCh37 |
143 | 161 | |
AHI1 | - | - |
GRCh38 GRCh37 |
1527 | 1555 | |
AIG1 | - | - |
GRCh38 GRCh37 |
6 | 23 |
There are 41 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767713.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022