ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q26.32(chr3:176992658-177191602)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 | |||
TBL1XR1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
413 | 590 | |
LOC112935911 | - | - | - | GRCh38 | - | 16 |
LOC123256946 | - | - | - | GRCh38 | - | 15 |
LOC123256947 | - | - | - | GRCh38 | - | 15 |
LOC126806878 | - | - | - | GRCh38 | - | 86 |
LOC129937938 | - | - | - | GRCh38 | - | 16 |
LOC129937939 | - | - | - | GRCh38 | - | 16 |
LOC129937940 | - | - | - | GRCh38 | - | 15 |
TBL1XR1-AS1 | - | - | - | GRCh38 | - | 164 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Feb 5, 2013 | RCV000137023.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024