ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del
Germline
Classification
(1)
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 | |||
GALT | - | - |
GRCh38 GRCh37 |
707 | 867 | |
IL11RA | - | - |
GRCh38 GRCh37 |
85 | 163 | |
LOC121331325 | - | - | - | GRCh38 | - | 30 |
LOC130001682 | - | - | - | GRCh38 | - | 35 |
LOC130001683 | - | - | - | GRCh38 | - | 109 |
LOC130001684 | - | - | - | GRCh38 | - | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2006 | RCV000087307.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023