ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
MYCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
155 | 251 | |
DDX1 | - | - |
GRCh38 GRCh37 |
32 | 68 | |
GACAT3 | - | - | GRCh38 | - | 13 | |
LINC01804 | - | - | - | GRCh38 | - | 13 |
LOC122756385 | - | - | - | GRCh38 | - | 14 |
LOC122756386 | - | - | - | GRCh38 | - | 14 |
LOC122756387 | - | - | - | GRCh38 | - | 13 |
LOC126806152 | - | - | - | GRCh38 | - | 13 |
LOC126806153 | - | - | - | GRCh38 | - | 12 |
LOC126806154 | - | - | - | GRCh38 | - | 11 |
There are 9 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 30, 2010 | RCV000134770.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024