ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p12.1(chr20:13441077-14062969)x4
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 | |||
ESF1 | - | - |
GRCh38 GRCh37 |
44 | 81 | |
LOC113939992 | - | - | - | GRCh38 | - | 13 |
LOC125384585 | - | - | - | GRCh38 | - | 13 |
LOC125384586 | - | - | - | GRCh38 | - | 13 |
LOC130065433 | - | - | - | GRCh38 | - | 105 |
LOC130065434 | - | - | - | GRCh38 | - | 15 |
MACROD2 | - | - |
GRCh38 GRCh38 GRCh37 |
55 | 187 | |
NDUFAF5 | - | - |
GRCh38 GRCh38 GRCh37 |
397 | 531 | |
SEL1L2 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 35 | |
TASP1 | - | - |
GRCh38 GRCh37 |
37 | 136 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 25, 2012 | RCV000138887.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024