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 |
45 | 58 | |
ARHGAP21 | - | - |
GRCh38 GRCh37 |
148 | 162 | |
ENKUR | - | - |
GRCh38 GRCh37 |
- | 83 | |
GAD2 | - | - |
GRCh38 GRCh37 |
47 | 61 | |
GPR158 | - | - |
GRCh38 GRCh37 |
51 | 91 | |
KIAA1217 | - | - |
GRCh38 GRCh37 |
131 | 156 | |
MYO3A | - | - |
GRCh38 GRCh37 |
755 | 770 | |
PRTFDC1 | - | - |
GRCh38 GRCh37 |
16 | 31 | |
THNSL1 | - | - |
GRCh38 GRCh37 |
- | 82 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
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