ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q25(chr11:131952484-134938470)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 |
259 | 360 | |
B3GAT1 | - | - |
GRCh38 GRCh37 |
14 | 111 | |
GLB1L2 | - | - | - |
GRCh38 GRCh37 |
50 | 153 |
GLB1L3 | - | - | - |
GRCh38 GRCh37 |
41 | 143 |
IGSF9B | - | - |
GRCh38 GRCh37 |
8 | 106 | |
JAM3 | - | - |
GRCh38 GRCh37 |
185 | 285 | |
LINC02714 | - | - | - |
GRCh38 GRCh37 |
3 | 107 |
LINC02743 | - | - | - |
GRCh38 GRCh37 |
- | 97 |
NCAPD3 | - | - |
GRCh38 GRCh37 |
173 | 280 | |
NTM | - | - |
GRCh38 GRCh37 |
20 | 113 |
There are 4 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 25, 2023 | RCV003444026.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023