ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3
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 | |||
IRF6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
319 | 340 | |
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 209 | |
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
326 | 360 | |
KCNH1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
705 | 729 | |
AIDA | - | - |
GRCh38 GRCh37 |
9 | 41 | |
ANGEL2 | - | - |
GRCh38 GRCh37 |
27 | 52 | |
ATF3 | - | - |
GRCh38 GRCh37 |
17 | 36 | |
AVPR1B | - | - |
GRCh38 GRCh37 |
38 | 55 | |
AVPR1B-DT | - | - | - | GRCh38 | - | 3 |
BATF3 | - | - |
GRCh38 GRCh37 |
4 | 24 |
There are 715 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 18, 2013 | RCV000142054.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024