ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)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 | |||
APOB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3446 | 3644 | |
MYCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
155 | 251 | |
MYT1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
446 | 516 | |
SOX11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
304 | 326 | |
GEN1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
609 | 637 | |
MATN3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
158 | 308 | |
ACP1 | - | - |
GRCh38 GRCh37 |
12 | 73 | |
ADAM17 | - | - |
GRCh38 GRCh37 |
249 | 537 | |
ADCY3 | - | - |
GRCh38 GRCh37 |
215 | 278 | |
ADI1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 46 |
There are 645 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) |
|
Jul 1, 2013 | RCV000141877.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024