ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)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 |
591 | 986 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
71 | 90 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
299 | 324 | |
AHI1 | - | - |
GRCh38 GRCh37 |
1555 | 1584 | |
AKAP7 | - | - |
GRCh38 GRCh37 |
16 | 35 | |
ALDH8A1 | - | - |
GRCh38 GRCh37 |
41 | 57 | |
ARG1 | - | - |
GRCh38 GRCh37 |
40 | 554 | |
ARHGAP18 | - | - |
GRCh38 GRCh37 |
42 | 65 | |
C6orf58 | - | - | - |
GRCh38 GRCh37 |
3 | 26 |
CCN2 | - | - |
GRCh38 GRCh37 |
- | 56 |
There are 61 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 29, 2022 | RCV003482930.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024