ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)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 |
7466 | 7797 | |
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1448 | 1527 | |
PPIP5K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
27 | 54 | |
AP4E1 | - | - |
GRCh38 GRCh37 |
516 | 550 | |
ARPP19 | - | - |
GRCh38 GRCh37 |
1 | 23 | |
ATOSA | - | - | - |
GRCh38 GRCh37 |
53 | 73 |
ATP8B4 | - | - |
GRCh38 GRCh37 |
70 | 98 | |
B2M | - | - |
GRCh38 GRCh38 GRCh37 |
55 | 71 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
9 | 42 | |
BLOC1S6 | - | - |
GRCh38 GRCh37 |
179 | 196 |
There are 68 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) |
|
Feb 26, 2018 | RCV000683686.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022