ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3
Germline
Classification
(1)
Uncertain significance
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 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 137 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 139 | |
ADAM7-AS1 | - | - | - | GRCh38 | - | 183 |
ADAM7-AS2 | - | - | - | GRCh38 | - | 70 |
ADAMDEC1 | - | - |
GRCh38 GRCh37 |
- | 121 | |
ENTPD4 | - | - |
GRCh38 GRCh37 |
47 | 130 | |
ENTPD4-DT | - | - | - | GRCh38 | - | 41 |
LOC101929258 | - | - | - | GRCh38 | - | 41 |
There are 64 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
|
Uncertain significance (1) |
|
Oct 21, 2011 | RCV000137878.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024