ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3
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 | |||
GATA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
806 | 929 | |
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
518 | 830 | |
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
18 | 106 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
116 | 254 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
110 | 289 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
105 | 242 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
572 | 709 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
80 | 179 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 140 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 146 |
There are 988 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) |
|
Sep 21, 2012 | RCV000138831.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024