ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3
Germline
Classification
(1)
not provided
no classification 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 | |||
BTBD18 | - | - | - |
GRCh38 GRCh37 |
- | 52 |
CLP1 | - | - |
GRCh38 GRCh37 |
95 | 112 | |
CTNND1 | - | - |
GRCh38 GRCh37 |
6 | 199 | |
MED19 | - | - |
GRCh38 GRCh37 |
- | 27 | |
MIR130A | - | - |
GRCh38 GRCh37 |
- | 17 | |
OR6Q1 | - | - | - |
GRCh38 GRCh37 |
- | 34 |
OR9Q1 | - | - | - |
GRCh38 GRCh37 |
19 | 78 |
P2RX3 | - | - |
GRCh38 GRCh37 |
24 | 47 | |
PRG2 | - | - |
GRCh38 GRCh37 |
22 | 39 | |
PRG3 | - | - |
GRCh38 GRCh37 |
6 | 30 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV001825196.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022