ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)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 | |||
MYCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
155 | 248 | |
MYT1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
441 | 510 | |
SOX11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
293 | 315 | |
GEN1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
608 | 634 | |
MATN3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
158 | 307 | |
ACP1 | - | - |
GRCh38 GRCh37 |
12 | 72 | |
ADAM17 | - | - |
GRCh38 GRCh37 |
249 | 537 | |
ADI1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 45 | |
ALKAL2 | - | - |
GRCh38 GRCh37 |
10 | 69 | |
ALLC | - | - |
GRCh38 GRCh37 |
28 | 62 |
There are 490 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) |
|
Sep 26, 2012 | RCV000141226.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 28, 2023