ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)
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 | |||
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
572 | 709 | |
ADRA1A | - | - |
GRCh38 GRCh37 |
37 | 117 | |
BNIP3L | - | - |
GRCh38 GRCh37 |
6 | 89 | |
CCDC25 | - | - |
GRCh38 GRCh37 |
11 | 93 | |
CDCA2 | - | - |
GRCh38 GRCh37 |
64 | 168 | |
CHRNA2 | - | - |
GRCh38 GRCh37 |
745 | 826 | |
CLU | - | - |
GRCh38 GRCh37 |
22 | 102 | |
DCTN6 | - | - |
GRCh38 GRCh37 |
10 | 82 | |
DOCK5 | - | - |
GRCh38 GRCh37 |
144 | 246 | |
DPYSL2 | - | - |
GRCh38 GRCh37 |
42 | 124 |
There are 43 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000448582.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024