ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.33(chr12:132405650-132664387)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
DDX51 | - | - | - |
GRCh38 GRCh38 GRCh37 |
75 | 113 |
EP400 | - | - |
GRCh38 GRCh37 |
333 | 397 | |
NOC4L | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 95 | |
PUS1 | - | - |
GRCh38 GRCh37 |
472 | 613 | |
ULK1 | - | - |
GRCh38 GRCh37 |
88 | 119 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 2, 2018 | RCV000683412.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022