ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q23.2(chr16:80228506-81280700)
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 |
66 | 140 | |
BCO1 | - | - |
GRCh38 GRCh38 GRCh37 |
89 | 154 | |
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 | |
GCSH | - | - |
GRCh38 GRCh38 GRCh37 |
71 | 191 | |
PKD1L2 | - | - |
GRCh38 GRCh38 GRCh37 |
237 | 321 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052547.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023