ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
APBB1 | - | - |
GRCh38 GRCh37 |
43 | 65 | |
C11orf42 | - | - | - |
GRCh38 GRCh37 |
4 | 22 |
CAVIN3 | - | - |
GRCh38 GRCh37 |
20 | 41 | |
CCKBR | - | - |
GRCh38 GRCh37 |
20 | 51 | |
CNGA4 | - | - |
GRCh38 GRCh37 |
46 | 64 | |
FHIP1B | - | - |
GRCh38 GRCh37 |
65 | 83 | |
HPX | - | - |
GRCh38 GRCh37 |
41 | 62 | |
LOC113939924 | - | - | - | GRCh38 | - | 4 |
LOC121392889 | - | - | - | GRCh38 | - | 3 |
LOC121832784 | - | - | - | GRCh38 | - | 3 |
There are 51 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051695.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023