ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.2(chr8:2605460-3989878)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 | |||
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
518 | 830 | |
LINC03021 | - | - | - |
GRCh38 GRCh38 |
- | 72 |
LOC105377785 | - | - | - |
GRCh38 GRCh38 |
- | 210 |
LOC123987607 | - | - | - |
GRCh38 GRCh38 |
- | 70 |
LOC123987608 | - | - | - | GRCh38 | - | 70 |
LOC123987609 | - | - | - | GRCh38 | - | 70 |
LOC126860284 | - | - | - | GRCh38 | - | 70 |
LOC126860285 | - | - | - | GRCh38 | - | 73 |
LOC126860286 | - | - | - | GRCh38 | - | 67 |
LOC126860287 | - | - | - | GRCh38 | - | 66 |
There are 2 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 | RCV000052749.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023