ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)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 | |
AKAP8 | - | - |
GRCh38 GRCh37 |
93 | 113 | |
AKAP8L | - | - |
GRCh38 GRCh37 |
34 | 62 | |
AP1M1 | - | - |
GRCh38 GRCh37 |
13 | 30 | |
BRD4 | - | - |
GRCh38 GRCh37 |
614 | 634 | |
C19orf44 | - | - | - |
GRCh38 GRCh37 |
7 | 33 |
CALR3 | - | - |
GRCh38 GRCh37 |
295 | 314 | |
CASP14 | - | - |
GRCh38 GRCh37 |
56 | 72 | |
CHERP | - | - |
GRCh38 GRCh37 |
26 | 49 | |
CIB3 | - | - |
GRCh38 GRCh37 |
16 | 33 |
There are 37 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 22, 2015 | RCV000511367.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024