ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)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 | |||
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
518 | 830 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
110 | 289 | |
AGPAT5 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 150 | |
ANGPT2 | - | - |
GRCh38 GRCh37 |
- | 238 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
712 | 901 | |
CLN8 | - | - |
GRCh38 GRCh38 GRCh37 |
543 | 705 | |
DEFA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 107 | |
DEFA1B | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 107 |
DEFA3 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 116 | |
DEFA4 | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 121 |
There are 31 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 23, 2022 | RCV003483000.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024