ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)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 | |||
ADGRE2 | - | - |
GRCh38 GRCh37 |
459 | 477 | |
ADGRE3 | - | - |
GRCh38 GRCh37 |
37 | 56 | |
ADGRE5 | - | - |
GRCh38 GRCh37 |
49 | 91 | |
ADGRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 147 | |
ADGRL1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 131 |
AKAP8 | - | - |
GRCh38 GRCh37 |
93 | 113 | |
ASF1B | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 31 | |
BRD4 | - | - |
GRCh38 GRCh37 |
614 | 634 | |
BRME1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 26 | |
C19orf53 | - | - |
GRCh38 GRCh37 |
- | 16 |
There are 172 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 16, 2011 | RCV000136502.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024