ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4
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 | |||
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
11 | 34 | |
DLX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
20 | 42 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
488 | 514 | |
CYBRD1 | - | - |
GRCh38 GRCh37 |
17 | 44 | |
DYNC1I2 | - | - |
GRCh38 GRCh38 GRCh37 |
57 | 82 | |
HAT1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 35 | |
METAP1D | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 1, 2018 | RCV000677198.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022