ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)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 |
7137 | 7452 | |
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1428 | 1505 | |
PPIP5K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
18 | 45 | |
ADAL | - | - |
GRCh38 GRCh37 |
10 | 37 | |
AP4E1 | - | - |
GRCh38 GRCh37 |
513 | 547 | |
ATP8B4 | - | - |
GRCh38 GRCh37 |
47 | 74 | |
B2M | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 70 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
8 | 40 | |
BLOC1S6 | - | - |
GRCh38 GRCh37 |
179 | 196 | |
C15orf48 | - | - |
GRCh38 GRCh37 |
1 | 24 |
There are 99 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) |
|
- | RCV000448968.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022