ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.11-42.12(chr1:224432682-225142704)
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 | |||
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
199 | 245 | |
CNIH3 | - | - | - |
GRCh38 GRCh37 |
11 | 53 |
CNIH4 | - | - |
GRCh38 GRCh37 |
9 | 51 | |
DNAH14 | - | - |
GRCh38 GRCh37 |
560 | 597 | |
NVL | - | - |
GRCh38 GRCh37 |
40 | 85 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280724.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 17, 2024