ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)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 | |||
BCHE | - | - |
GRCh38 GRCh37 |
175 | 197 | |
GOLIM4 | - | - |
GRCh38 GRCh37 |
40 | 62 | |
PDCD10 | - | - |
GRCh38 GRCh37 |
168 | 204 | |
SERPINI1 | - | - |
GRCh38 GRCh37 |
338 | 367 | |
SERPINI2 | - | - |
GRCh38 GRCh37 |
17 | 41 | |
SI | - | - |
GRCh38 GRCh37 |
1246 | 1267 | |
SLITRK3 | - | - |
GRCh38 GRCh37 |
50 | 71 | |
WDR49 | - | - | - |
GRCh38 GRCh37 |
55 | 83 |
ZBBX | - | - | - |
GRCh38 GRCh37 |
52 | 76 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 1, 2023 | RCV003885505.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024