ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
564 | 701 | |
ADRA1A | - | - |
GRCh38 GRCh37 |
34 | 114 | |
BNIP3L | - | - |
GRCh38 GRCh37 |
6 | 89 | |
CCDC25 | - | - |
GRCh38 GRCh37 |
9 | 91 | |
CDCA2 | - | - |
GRCh38 GRCh37 |
55 | 159 | |
CHRNA2 | - | - |
GRCh38 GRCh37 |
734 | 815 | |
CLU | - | - |
GRCh38 GRCh37 |
21 | 101 | |
DCTN6 | - | - |
GRCh38 GRCh37 |
8 | 80 | |
DCTN6-DT | - | - | - | GRCh38 | - | 39 |
DOCK5 | - | - |
GRCh38 GRCh37 |
120 | 220 |
There are 251 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054237.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023