ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p12.1(chr10:24628319-26747630)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 | |||
APBB1IP | - | - |
GRCh38 GRCh37 |
41 | 54 | |
ARHGAP21 | - | - |
GRCh38 GRCh37 |
135 | 149 | |
ENKUR | - | - |
GRCh38 GRCh37 |
- | 76 | |
GAD2 | - | - |
GRCh38 GRCh37 |
39 | 53 | |
GPR158 | - | - |
GRCh38 GRCh37 |
44 | 79 | |
KIAA1217 | - | - |
GRCh38 GRCh37 |
107 | 131 | |
MYO3A | - | - |
GRCh38 GRCh37 |
728 | 743 | |
PRTFDC1 | - | - |
GRCh38 GRCh37 |
13 | 28 | |
THNSL1 | - | - |
GRCh38 GRCh37 |
- | 75 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 26, 2015 | RCV000511762.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024