ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3
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 |
584 | 972 | |
HIVEP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
957 | 971 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 86 | |
TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
157 | 323 | |
CITED2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
43 | 77 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
292 | 317 | |
HYMAI | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 18 | |
PLAGL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 58 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
6 | 21 |
ADAT2 | - | - |
GRCh38 GRCh37 |
9 | 24 |
There are 147 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) |
|
- | RCV003986631.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024