ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1
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 | |||
EYA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
570 | 952 | |
CITED2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
36 | 70 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
56 | 75 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
4 | 20 |
AHI1 | - | - |
GRCh38 GRCh37 |
1525 | 1553 | |
ALDH8A1 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
ARFGEF3 | - | - |
GRCh38 GRCh37 |
133 | 157 | |
CCDC28A | - | - |
GRCh38 GRCh37 |
8 | 25 | |
ECT2L | - | - | - |
GRCh38 GRCh37 |
71 | 91 |
HBS1L | - | - |
GRCh38 GRCh37 |
22 | 40 |
There are 24 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) |
|
Apr 22, 2019 | RCV001537931.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023