ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1
Germline
Classification
(1)
Likely 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 | |||
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
31 | 84 | |
ATMIN | - | - |
GRCh38 GRCh38 GRCh37 |
57 | 129 | |
BCO1 | - | - |
GRCh38 GRCh38 GRCh37 |
83 | 146 | |
C16orf46 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 68 |
CDYL2 | - | - |
GRCh38 GRCh37 |
29 | 78 | |
CENPN | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 93 | |
CMC2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 67 |
CMIP | - | - |
GRCh38 GRCh37 |
73 | 124 | |
DYNLRB2 | - | - |
GRCh38 GRCh37 |
- | 63 | |
GAN | - | - |
GRCh38 GRCh37 |
709 | 838 |
There are 5 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 20, 2018 | RCV001006824.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023