ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)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 | |||
FBN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7116 | 7430 | |
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1427 | 1506 | |
AP4E1 | - | - |
GRCh38 GRCh37 |
511 | 547 | |
ATP8B4 | - | - |
GRCh38 GRCh37 |
47 | 74 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
8 | 42 | |
CEP152 | - | - |
GRCh38 GRCh37 |
1061 | 1088 | |
CERNA1 | - | - | - | GRCh38 | - | 25 |
COPS2 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
CTXN2 | - | - | - |
GRCh38 GRCh37 |
1 | 26 |
CTXN2-AS1 | - | - | - | GRCh38 | - | 29 |
There are 182 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) |
|
Feb 18, 2011 | RCV000135639.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023