ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3
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 | |||
SCN1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2178 | 4521 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2522 | 2597 | |
B3GALT1 | - | - |
GRCh38 GRCh37 |
1 | 41 | |
CSRNP3 | - | - |
GRCh38 GRCh37 |
30 | 94 | |
GALNT3 | - | - |
GRCh38 GRCh37 |
425 | 488 | |
LOC100506124 | - | - | - | GRCh38 | - | 18 |
LOC102724058 | - | - | - | GRCh38 | - | 2289 |
LOC120977013 | - | - | - | GRCh38 | - | 29 |
LOC122847309 | - | - | - | GRCh38 | - | 7 |
LOC126806396 | - | - | - | GRCh38 | - | 18 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2010 | RCV000133953.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024