ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q24.3(chr2:165794558-166633875)
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 | |||
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2554 | 2629 | |
CSRNP3 | - | - | - |
GRCh38 GRCh37 |
36 | 100 |
GALNT3 | - | - |
GRCh38 GRCh37 |
431 | 494 | |
SCN3A | - | - |
GRCh38 GRCh37 |
1661 | 1715 | |
SLC38A11 | - | - |
GRCh38 GRCh37 |
30 | 62 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053262.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022