ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1
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 |
98 | 126 | |
ITFG1 | - | - |
GRCh38 GRCh37 |
27 | 71 | |
MYLK3 | - | - |
GRCh38 GRCh37 |
754 | 787 | |
NETO2 | - | - |
GRCh38 GRCh37 |
30 | 51 | |
ORC6 | - | - |
GRCh38 GRCh37 |
143 | 180 | |
SHCBP1 | - | - |
GRCh38 GRCh37 |
56 | 83 | |
VPS35 | - | - |
GRCh38 GRCh37 |
221 | 260 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207035.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024