ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)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 | |||
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
18 | 106 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
575 | 712 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
80 | 179 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 140 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 146 | |
ADAM7-AS1 | - | - | - | GRCh38 | - | 197 |
ADAM7-AS2 | - | - | - | GRCh38 | - | 75 |
ADAMDEC1 | - | - |
GRCh38 GRCh37 |
- | 125 | |
ADRA1A | - | - |
GRCh38 GRCh37 |
37 | 117 | |
ASAH1 | - | - |
GRCh38 GRCh37 |
882 | 1017 |
There are 645 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) |
|
Jan 3, 2012 | RCV000138058.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024