ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1
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 |
418 | 692 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
82 | 255 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
675 | 860 | |
CLN8 | - | - |
GRCh38 GRCh38 GRCh37 |
537 | 697 | |
CLN8-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
DLGAP2-AS1 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 63 |
ERICH1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 190 |
FAM87A | - | - | - | GRCh38 | - | 59 |
FBXO25 | - | - |
GRCh38 GRCh37 |
14 | 164 | |
KBTBD11 | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 211 |
There are 56 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2010 | RCV000136737.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023