ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 210 | |
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
326 | 360 | |
AIDA | - | - |
GRCh38 GRCh37 |
9 | 41 | |
BROX | - | - | - |
GRCh38 GRCh37 |
13 | 45 |
CAPN2 | - | - |
GRCh38 GRCh37 |
54 | 92 | |
CAPN8 | - | - |
GRCh38 GRCh37 |
29 | 63 | |
CCDC185 | - | - | - |
GRCh38 GRCh37 |
52 | 83 |
CNIH3 | - | - | - |
GRCh38 GRCh37 |
11 | 52 |
CNIH4 | - | - |
GRCh38 GRCh37 |
5 | 47 | |
DEGS1 | - | - |
GRCh38 GRCh37 |
73 | 114 |
There are 13 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 26, 2021 | RCV002474859.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022