ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.2(chr1:114011163-114803749)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 | |||
AP4B1 | - | - |
GRCh38 GRCh37 |
110 | 426 | |
BCL2L15 | - | - |
GRCh38 GRCh37 |
- | 20 | |
DCLRE1B | - | - |
GRCh38 GRCh37 |
131 | 170 | |
HIPK1 | - | - |
GRCh38 GRCh37 |
51 | 66 | |
MAGI3 | - | - |
GRCh38 GRCh37 |
69 | 87 | |
OLFML3 | - | - |
GRCh38 GRCh37 |
29 | 44 | |
PHTF1 | - | - |
GRCh38 GRCh37 |
50 | 65 | |
PTPN22 | - | - |
GRCh38 GRCh37 |
- | 70 | |
RSBN1 | - | - |
GRCh38 GRCh37 |
34 | 49 | |
SYT6 | - | - |
GRCh38 GRCh37 |
22 | 38 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jul 14, 2015 | RCV000512362.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024