ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)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 | |||
SCN1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2206 | 4567 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2554 | 2629 | |
TBR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
215 | 255 | |
SLC4A10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
95 | 121 | |
BAZ2B | - | - |
GRCh38 GRCh37 |
184 | 244 | |
BAZ2B-AS1 | - | - | - | GRCh38 | - | 6 |
CCDC148 | - | - | - |
GRCh38 GRCh37 |
35 | 67 |
CD302 | - | - |
GRCh38 GRCh37 |
- | 23 | |
COBLL1 | - | - |
GRCh38 GRCh37 |
78 | 108 | |
CSRNP3 | - | - |
GRCh38 GRCh37 |
36 | 100 |
There are 189 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051003.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024