ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q25(chr11:134232099-134998513)x1
Germline
Classification
(1)
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 | |||
ACAD8 | - | - |
GRCh38 GRCh37 |
260 | 361 | |
B3GAT1 | - | - |
GRCh38 GRCh37 |
17 | 114 | |
B3GAT1-DT | - | - | - | GRCh38 | 1 | 48 |
GLB1L2 | - | - | - |
GRCh38 GRCh37 |
53 | 156 |
GLB1L3 | - | - | - |
GRCh38 GRCh37 |
48 | 150 |
LINC02697 | - | - | - |
GRCh38 GRCh38 |
- | 42 |
LINC02706 | - | - | - | GRCh38 | - | 52 |
LINC02714 | - | - | - |
GRCh38 GRCh37 |
3 | 107 |
LOC100507548 | - | - | - | GRCh38 | - | 42 |
LOC121392954 | - | - | - | GRCh38 | - | 52 |
There are 17 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
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050928.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024