ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
7533 | 7866 | |
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1470 | 1550 | |
AP4E1 | - | - |
GRCh38 GRCh37 |
526 | 562 | |
ARPP19 | - | - |
GRCh38 GRCh37 |
1 | 23 | |
ATOSA | - | - | - |
GRCh38 GRCh37 |
62 | 82 |
ATP8B4 | - | - |
GRCh38 GRCh37 |
76 | 105 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
10 | 43 | |
CCPG1 | - | - |
GRCh38 GRCh37 |
- | 101 | |
CEP152 | - | - |
GRCh38 GRCh37 |
1078 | 1107 | |
COPS2 | - | - |
GRCh38 GRCh37 |
13 | 39 |
There are 44 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052472.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022