ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3
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 | |
TCF12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
335 | 357 | |
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1448 | 1527 | |
ADAM10 | - | - |
GRCh38 GRCh37 |
70 | 95 | |
ALDH1A2 | - | - |
GRCh38 GRCh37 |
58 | 80 | |
ANXA2 | - | - |
GRCh38 GRCh37 |
8 | 27 | |
AP4E1 | - | - |
GRCh38 GRCh37 |
516 | 550 | |
AQP9 | - | - |
GRCh38 GRCh37 |
19 | 38 | |
ARPP19 | - | - |
GRCh38 GRCh37 |
1 | 23 | |
ATOSA | - | - |
GRCh38 GRCh37 |
53 | 73 |
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) |
|
Jan 12, 2018 | RCV000845891.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023