ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.2(chr16:79455147-81109328)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 | |||
ARLNC1 | - | - | GRCh38 | - | 21 | |
ATMIN | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 140 | |
C16orf46 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 69 |
CDYL2 | - | - |
GRCh38 GRCh37 |
31 | 81 | |
CENPN | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 96 | |
CMC2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 71 |
DYNLRB2 | - | - |
GRCh38 GRCh37 |
- | 64 | |
DYNLRB2-AS1 | - | - | - | GRCh38 | - | 36 |
GCSH | - | - |
GRCh38 GRCh38 GRCh37 |
71 | 191 | |
LINC01227 | - | - | - | GRCh38 | - | 21 |
There are 51 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050712.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024