ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1
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 | |||
EYA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
595 | 991 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
71 | 90 | |
AHI1 | - | - |
GRCh38 GRCh37 |
1556 | 1585 | |
ALDH8A1 | - | - |
GRCh38 GRCh37 |
41 | 57 | |
CCN2 | - | - |
GRCh38 GRCh37 |
- | 56 | |
CTAGE9 | - | - | - |
GRCh38 GRCh37 |
- | 90 |
ENPP1 | - | - |
GRCh38 GRCh37 |
693 | 719 | |
ENPP3 | - | - |
GRCh38 GRCh37 |
60 | 164 | |
HBS1L | - | - |
GRCh38 GRCh37 |
31 | 47 | |
MAP3K5 | - | - |
GRCh38 GRCh37 |
56 | 85 |
There are 23 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) |
|
Feb 28, 2018 | RCV000682725.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022