ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.2-23.1(chr8:2605460-6605579)x3
Germline
Classification
(1)
Pathogenic
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 | |||
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
479 | 775 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 234 | |
LINC03021 | - | - | - |
GRCh38 GRCh38 |
- | 72 |
LOC105377785 | - | - | - |
GRCh38 GRCh38 |
- | 196 |
LOC105377796 | - | - | - | GRCh38 | 1 | 51 |
LOC107522030 | - | - | - | GRCh38 | - | 58 |
LOC113788286 | - | - | - | GRCh38 | - | 51 |
LOC123987607 | - | - | - |
GRCh38 GRCh38 |
- | 70 |
LOC123987608 | - | - | - | GRCh38 | - | 70 |
LOC123987609 | - | - | - | GRCh38 | - | 70 |
There are 24 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
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000139540.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024