ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1
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 | |||
LRATD2 | - | - |
GRCh38 GRCh37 |
10 | 70 | |
MTSS1 | - | - |
GRCh38 GRCh38 GRCh37 |
50 | 110 | |
NDUFB9 | - | - |
GRCh38 GRCh38 GRCh37 |
97 | 158 | |
NSMCE2 | - | - |
GRCh38 GRCh37 |
79 | 141 | |
PCAT1 | - | - |
GRCh38 GRCh37 |
- | 53 | |
SQLE | - | - |
GRCh38 GRCh37 |
20 | 78 | |
TATDN1 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 85 | |
TRIB1 | - | - |
GRCh38 GRCh37 |
16 | 83 | |
WASHC5 | - | - |
GRCh38 GRCh37 |
557 | 707 | |
ZNF572 | - | - | - |
GRCh38 GRCh37 |
31 | 89 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 22, 2015 | RCV000510509.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024