ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1
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 | |||
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1449 | 1528 | |
AP4E1 | - | - |
GRCh38 GRCh37 |
516 | 550 | |
ARPP19 | - | - |
GRCh38 GRCh37 |
1 | 23 | |
ATOSA | - | - |
GRCh38 GRCh37 |
53 | 73 | |
ATP8B4 | - | - |
GRCh38 GRCh37 |
70 | 98 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
9 | 42 | |
CCPG1 | - | - |
GRCh38 GRCh37 |
- | 92 | |
COPS2 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
CYP19A1 | - | - |
GRCh38 GRCh37 |
11 | 515 | |
DNAAF4 | - | - |
GRCh38 GRCh37 |
19 | 307 |
There are 35 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) |
|
Sep 7, 2022 | RCV003483230.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024