ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1
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 | |||
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
142 | 254 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
274 | 396 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
DIP2A-IT1 | - | - | - | GRCh38 | - | 48 |
LOC112694753 | - | - | - | GRCh38 | - | 49 |
LOC112694754 | - | - | - | GRCh38 | - | 47 |
LOC121853034 | - | - | - | GRCh38 | - | 47 |
LOC128092249 | - | - | - | GRCh38 | - | 90 |
LOC129391254 | - | - | - | GRCh38 | - | 48 |
LOC130066867 | - | - | - | GRCh38 | - | 47 |
There are 26 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000050919.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024