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 |
558 | 695 | |
ADRA1A | - | - |
GRCh38 GRCh37 |
24 | 104 | |
BNIP3L | - | - |
GRCh38 GRCh37 |
3 | 85 | |
CCDC25 | - | - |
GRCh38 GRCh37 |
7 | 89 | |
CDCA2 | - | - |
GRCh38 GRCh37 |
44 | 146 | |
CHRNA2 | - | - |
GRCh38 GRCh37 |
732 | 813 | |
CLU | - | - |
GRCh38 GRCh37 |
21 | 101 | |
DCTN6 | - | - |
GRCh38 GRCh37 |
5 | 77 | |
DOCK5 | - | - |
GRCh38 GRCh37 |
89 | 186 | |
DPYSL2 | - | - |
GRCh38 GRCh37 |
32 | 114 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000448582.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023