ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)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 | |||
MYCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 264 | |
ADAM17 | - | - |
GRCh38 GRCh37 |
250 | 542 | |
ASAP2 | - | - |
GRCh38 GRCh37 |
66 | 94 | |
ATP6V1C2 | - | - |
GRCh38 GRCh37 |
28 | 57 | |
C2orf48 | - | - | - |
GRCh38 GRCh37 |
- | 25 |
C2orf50 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
CMPK2 | - | - |
GRCh38 GRCh37 |
26 | 73 | |
CPSF3 | - | - |
GRCh38 GRCh37 |
21 | 47 | |
CYS1 | - | - |
GRCh38 GRCh37 |
14 | 56 | |
DDX1 | - | - |
GRCh38 GRCh37 |
36 | 72 |
There are 289 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 | RCV000053978.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024