ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q23.2(chr5:121409786-122337117)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
LOX | - | - |
GRCh38 GRCh37 |
3 | 499 | |
SNCAIP | - | - |
GRCh38 GRCh37 |
72 | 172 | |
SNX2 | - | - |
GRCh38 GRCh37 |
18 | 49 | |
SNX24 | - | - | - |
GRCh38 GRCh37 |
8 | 47 |
ZNF474 | - | - | - |
GRCh38 GRCh37 |
- | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207088.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024