ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3
Germline
Classification
(1)
Likely 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 |
11 | 98 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
558 | 695 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
65 | 163 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 121 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 124 | |
ADAMDEC1 | - | - |
GRCh38 GRCh37 |
- | 113 | |
ADRA1A | - | - |
GRCh38 GRCh37 |
24 | 104 | |
ASAH1 | - | - |
GRCh38 GRCh37 |
869 | 1003 | |
ASAH1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 95 |
ATP6V1B2 | - | - |
GRCh38 GRCh37 |
88 | 180 |
There are 96 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 20, 2019 | RCV001260030.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023