ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)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 |
15 | 102 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
566 | 703 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 173 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 137 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 139 | |
ADAMDEC1 | - | - |
GRCh38 GRCh37 |
- | 121 | |
ADRA1A | - | - |
GRCh38 GRCh37 |
34 | 114 | |
ASAH1 | - | - |
GRCh38 GRCh37 |
876 | 1011 | |
ASAH1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 96 |
ATP6V1B2 | - | - |
GRCh38 GRCh37 |
97 | 193 |
There are 116 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) |
|
Mar 14, 2018 | RCV000683043.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023