ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1
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 | |||
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 210 | |
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
326 | 360 | |
ACBD3 | - | - |
GRCh38 GRCh37 |
8 | 57 | |
AIDA | - | - |
GRCh38 GRCh37 |
9 | 41 | |
BPNT1 | - | - |
GRCh38 GRCh37 |
11 | 47 | |
BROX | - | - | - |
GRCh38 GRCh37 |
13 | 45 |
C1orf115 | - | - | - |
GRCh38 GRCh37 |
5 | 37 |
CAPN2 | - | - |
GRCh38 GRCh37 |
54 | 92 | |
CAPN8 | - | - |
GRCh38 GRCh37 |
29 | 63 | |
CCDC185 | - | - | - |
GRCh38 GRCh37 |
52 | 83 |
There are 45 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) |
|
- | RCV004442774.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024