ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ATMIN | - | - |
GRCh38 GRCh38 GRCh37 |
57 | 129 | |
BCO1 | - | - |
GRCh38 GRCh38 GRCh37 |
83 | 146 | |
C16orf46 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 68 |
CENPN | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 93 | |
CMC2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 67 |
GAN | - | - |
GRCh38 GRCh37 |
709 | 838 | |
GCSH | - | - |
GRCh38 GRCh38 GRCh37 |
68 | 186 | |
LOC112486210 | - | - | - |
GRCh38 GRCh38 |
- | 30 |
LOC130059488 | - | - | - |
GRCh38 GRCh38 |
- | 23 |
LOC130059489 | - | - | - |
GRCh38 GRCh38 |
- | 23 |
There are 12 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000053930.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024