ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2
Germline
Classification
(1)
association
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 | |||
IRF6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
320 | 342 | |
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 210 | |
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
326 | 360 | |
KCNH1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
709 | 734 | |
ACBD3 | - | - |
GRCh38 GRCh37 |
8 | 58 | |
ACBD3-AS1 | - | - | - | GRCh38 | - | 22 |
AIDA | - | - |
GRCh38 GRCh37 |
9 | 41 | |
ANGEL2 | - | - |
GRCh38 GRCh37 |
27 | 53 | |
ARF1 | - | - |
GRCh38 GRCh37 |
1 | 70 | |
ATF3 | - | - |
GRCh38 GRCh37 |
17 | 37 |
There are 712 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
association (1) |
|
- | RCV002481175.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023