ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q25(chr11:133325079-134157243)
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 | |
GLB1L3 | - | - | - |
GRCh38 GRCh37 |
48 | 150 |
IGSF9B | - | - |
GRCh38 GRCh37 |
9 | 107 | |
JAM3 | - | - |
GRCh38 GRCh37 |
188 | 288 | |
LINC02743 | - | - | - |
GRCh38 GRCh37 |
- | 97 |
NCAPD3 | - | - |
GRCh38 GRCh37 |
192 | 299 | |
OPCML | - | - |
GRCh38 GRCh37 |
23 | 128 | |
SPATA19 | - | - |
GRCh38 GRCh37 |
17 | 113 | |
THYN1 | - | - |
GRCh38 GRCh37 |
17 | 118 | |
VPS26B | - | - |
GRCh38 GRCh37 |
4 | 107 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767603.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022