ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.4(chr11:73197127-73712308)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 | |||
COA4 | - | - |
GRCh38 GRCh37 |
4 | 27 | |
DNAJB13 | - | - |
GRCh38 GRCh37 |
156 | 183 | |
FAM168A | - | - |
GRCh38 GRCh37 |
7 | 25 | |
MRPL48 | - | - |
GRCh38 GRCh37 |
9 | 33 | |
PAAF1 | - | - |
GRCh38 GRCh37 |
26 | 50 | |
PLEKHB1 | - | - |
GRCh38 GRCh37 |
22 | 42 | |
RAB6A | - | - |
GRCh38 GRCh37 |
5 | 27 | |
UCP2 | - | - |
GRCh38 GRCh37 |
72 | 91 | |
UCP3 | - | - |
GRCh38 GRCh37 |
184 | 210 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000447783.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024