ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q21.3(chr21:26892213-28034654)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 | |||
ADAMTS5 | - | - |
GRCh38 GRCh37 |
63 | 133 | |
LINC00113 | - | - | - | GRCh38 | - | 38 |
LINC00314 | - | - | - | GRCh38 | - | 36 |
LINC01673 | - | - | - | GRCh38 | - | 39 |
LOC110121429 | - | - | - | GRCh38 | - | 42 |
LOC125418054 | - | - | - | GRCh38 | 1 | 41 |
LOC132090916 | - | - | - | GRCh38 | - | 40 |
LOC132090917 | - | - | - | GRCh38 | - | 40 |
MIR4759 | - | - | - | GRCh38 | - | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 9, 2013 | RCV000140837.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024