ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
ACAD8 | - | - |
GRCh38 GRCh37 |
260 | 361 | |
ADAMTS15 | - | - |
GRCh38 GRCh37 |
79 | 160 | |
ADAMTS8 | - | - |
GRCh38 GRCh37 |
65 | 146 | |
B3GAT1 | - | - |
GRCh38 GRCh37 |
17 | 114 | |
GLB1L2 | - | - | - |
GRCh38 GRCh37 |
53 | 156 |
GLB1L3 | - | - | - |
GRCh38 GRCh37 |
48 | 150 |
IGSF9B | - | - |
GRCh38 GRCh37 |
9 | 107 | |
JAM3 | - | - |
GRCh38 GRCh37 |
188 | 288 | |
LINC02714 | - | - | - |
GRCh38 GRCh37 |
3 | 107 |
LINC02743 | - | - | - |
GRCh38 GRCh37 |
- | 97 |
There are 9 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) |
|
Feb 19, 2020 | RCV001258507.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022