ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)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 | |||
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
479 | 775 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 149 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 233 | |
DEFA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 107 | |
DEFA1B | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 107 |
DEFA3 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 115 | |
DEFA4 | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 121 | |
DEFA6 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 119 | |
DEFB1 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 125 | |
GS1-24F4.2 | - | - | - |
GRCh38 GRCh38 |
- | 48 |
There are 46 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051073.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024