ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q11.2-12.1(chr16:46503328-47004071)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
C16orf87 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
DNAJA2 | - | - |
GRCh38 GRCh37 |
9 | 32 | |
GPT2 | - | - |
GRCh38 GRCh37 |
94 | 121 | |
MYLK3 | - | - |
GRCh38 GRCh37 |
753 | 784 | |
ORC6 | - | - |
GRCh38 GRCh37 |
140 | 175 | |
SHCBP1 | - | - |
GRCh38 GRCh37 |
48 | 75 | |
VPS35 | - | - |
GRCh38 GRCh37 |
219 | 256 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 7, 2020 | RCV001829059.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022