ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)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 |
588 | 978 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
71 | 90 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
6 | 21 |
AHI1 | - | - |
GRCh38 GRCh37 |
1547 | 1576 | |
ALDH8A1 | - | - |
GRCh38 GRCh37 |
41 | 57 | |
ARFGEF3 | - | - |
GRCh38 GRCh37 |
189 | 213 | |
CCDC28A | - | - |
GRCh38 GRCh37 |
10 | 25 | |
CITED2 | - | - |
GRCh38 GRCh37 |
43 | 77 | |
ECT2L | - | - | - |
GRCh38 GRCh37 |
85 | 105 |
HBS1L | - | - |
GRCh38 GRCh37 |
31 | 47 |
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) |
|
Jan 8, 2019 | RCV001005848.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022