ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)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 |
3534 | 3736 | |
MYCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
159 | 256 | |
MYT1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
460 | 530 | |
SOX11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
313 | 335 | |
GEN1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
613 | 641 | |
MATN3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
159 | 309 | |
ADAM17 | - | - |
GRCh38 GRCh37 |
250 | 542 | |
ADI1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 46 | |
ALLC | - | - |
GRCh38 GRCh37 |
31 | 65 | |
APOB-ICR | - | - | - |
GRCh38 GRCh38 |
- | 9 |
There are 538 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) |
|
Nov 4, 2011 | RCV000137913.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024