ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q24.3(chr2:165065255-166517749)
Germline
Classification
(1)
Likely 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 | |||
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2545 | 2620 | |
COBLL1 | - | - |
GRCh38 GRCh37 |
63 | 93 | |
CSRNP3 | - | - |
GRCh38 GRCh37 |
30 | 94 | |
GRB14 | - | - |
GRCh38 GRCh37 |
47 | 75 | |
SCN3A | - | - |
GRCh38 GRCh37 |
1651 | 1705 | |
SLC38A11 | - | - |
GRCh38 GRCh37 |
28 | 60 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Aug 27, 2015 | RCV000511060.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024