ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3(chr8:244617-2017223)x1
Germline
Classification
(1)
Pathogenic
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 | |||
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
100 | 276 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
694 | 882 | |
CLN8 | - | - |
GRCh38 GRCh38 GRCh37 |
540 | 702 | |
CLN8-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
DLGAP2-AS1 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 64 |
ERICH1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
55 | 203 |
FAM87A | - | - | - | GRCh38 | - | 59 |
FBXO25 | - | - |
GRCh38 GRCh37 |
23 | 174 | |
KBTBD11 | - | - |
GRCh38 GRCh38 GRCh37 |
72 | 230 | |
KBTBD11-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 55 |
There are 38 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) |
|
Aug 12, 2011 | RCV000148251.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024