ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p13-12.3(chr20:5030412-5435054)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CDS2 | - | - |
GRCh38 GRCh37 |
16 | 52 | |
LINC00658 | - | - | - | GRCh38 | - | 17 |
LOC107457602 | - | - | - | GRCh38 | - | 17 |
LOC121852998 | - | - | - | GRCh38 | - | 17 |
LOC126862960 | - | - | - | GRCh38 | - | 17 |
LOC126862961 | - | - | - | GRCh38 | - | 17 |
LOC129456123 | - | - | - | GRCh38 | - | 17 |
LOC130065371 | - | - | - | GRCh38 | - | 17 |
LOC130065372 | - | - | - | GRCh38 | - | 17 |
LOC130065373 | - | - | - | GRCh38 | - | 17 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052760.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023