ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1
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 |
3437 | 3629 | |
GEN1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
608 | 634 | |
MATN3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
158 | 307 | |
APOB-ICR | - | - | - |
GRCh38 GRCh38 |
- | 9 |
APOB3'MAR | - | - | - |
GRCh38 GRCh38 |
- | 56 |
GDF7 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
HS1BP3 | - | - |
GRCh38 GRCh37 |
39 | 57 | |
HS1BP3-IT1 | - | - | - | GRCh38 | - | 9 |
KCNS3 | - | - |
GRCh38 GRCh37 |
32 | 56 | |
LAPTM4A | - | - |
GRCh38 GRCh37 |
8 | 29 |
There are 123 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) |
|
Jun 18, 2012 | RCV000139451.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024