ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)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 | |||
SDR42E1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
31 | 84 | |
ADAMTS18 | - | - |
GRCh38 GRCh37 |
1078 | 1189 | |
ADAT1 | - | - |
GRCh38 GRCh37 |
38 | 83 | |
ARLNC1 | - | - | GRCh38 | - | 21 | |
ATMIN | - | - |
GRCh38 GRCh38 GRCh37 |
57 | 129 | |
BCAR1 | - | - |
GRCh38 GRCh38 GRCh37 |
111 | 158 | |
BCO1 | - | - |
GRCh38 GRCh38 GRCh37 |
83 | 146 | |
C16orf46 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 68 |
C16orf47 | - | - | - |
GRCh38 GRCh37 |
- | 37 |
CDYL2 | - | - |
GRCh38 GRCh37 |
29 | 78 |
There are 352 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 | RCV000053357.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023