ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3(chr8:1027218-1680120)x3
Germline
Classification
(1)
conflicting data from submitters
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 | |||
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
107 | 286 | |
DLGAP2-AS1 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 65 |
LOC123987604 | - | - | - |
GRCh38 GRCh38 |
- | 68 |
LOC123987605 | - | - | - |
GRCh38 GRCh38 |
- | 67 |
LOC126860271 | - | - | - |
GRCh38 GRCh38 |
- | 68 |
LOC126860272 | - | - | - |
GRCh38 GRCh38 |
- | 67 |
LOC126860273 | - | - | - |
GRCh38 GRCh38 |
- | 67 |
LOC126860274 | - | - | - |
GRCh38 GRCh38 |
- | 59 |
LOC126860275 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 58 |
LOC126860276 | - | - | - |
GRCh38 GRCh38 |
- | 64 |
There are 3 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
|
conflicting data from submitters (1) |
|
Apr 4, 2013 | RCV000140840.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024