ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p15.4(chr11:4371631-5253127)
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
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 | |||
C11orf40 | - | - | - |
GRCh38 GRCh37 |
3 | 31 |
HBB | - | - |
GRCh38 GRCh37 |
22 | 1834 | |
MMP26 | - | - |
GRCh38 GRCh37 |
20 | 313 | |
OR51A2 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
OR51A4 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
OR51A7 | - | - | - |
GRCh38 GRCh37 |
- | 45 |
OR51D1 | - | - | - |
GRCh38 GRCh37 |
20 | 48 |
OR51E1 | - | - |
GRCh38 GRCh37 |
27 | 55 | |
OR51E2 | - | - |
GRCh38 GRCh37 |
25 | 51 | |
OR51F1 | - | - | - |
GRCh38 GRCh37 |
- | 53 |
There are 20 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 15, 2015 | RCV000416780.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023