ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3
Germline
Classification
(1)
Uncertain significance
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 |
2223 | 4598 | |
CSRNP3 | - | - |
GRCh38 GRCh37 |
36 | 100 | |
GALNT3 | - | - |
GRCh38 GRCh37 |
433 | 496 | |
LOC100506124 | - | - | - | GRCh38 | - | 18 |
LOC102724058 | - | - | - | GRCh38 | - | 2316 |
LOC129388938 | - | - | - | GRCh38 | - | 20 |
LOC129935044 | - | - | - | GRCh38 | - | 21 |
LOC129935045 | - | - | - | GRCh38 | - | 20 |
LOC129935046 | - | - | - | GRCh38 | - | 20 |
LOC129935047 | - | - | - | GRCh38 | - | 20 |
There are 3 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
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052698.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024