ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)
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 | |
CAPN2 | - | - |
GRCh38 GRCh37 |
54 | 92 | |
CAPN8 | - | - |
GRCh38 GRCh37 |
29 | 63 | |
CCDC185 | - | - | - |
GRCh38 GRCh37 |
52 | 83 |
CNIH4 | - | - |
GRCh38 GRCh37 |
5 | 47 | |
DEGS1 | - | - |
GRCh38 GRCh37 |
73 | 114 | |
FBXO28 | - | - |
GRCh38 GRCh37 |
29 | 75 | |
NVL | - | - |
GRCh38 GRCh37 |
27 | 72 | |
TP53BP2 | - | - |
GRCh38 GRCh37 |
76 | 111 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2020 | RCV001291986.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023