ClinVar Genomic variation as it relates to human health
NM_000211.5(ITGB2):c.329-36_452del
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 | |||
ITGB2 | - | - |
GRCh38 GRCh37 |
779 | 882 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2000 | RCV000010080.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023
NCBI staff provided HGVS expressions for allelic variant 600065.0015 from the sequence reported in Figure 5 of the paper by Allende et al., 2000 (PubMed 10712675).