ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3
Germline
Classification
(1)
Uncertain significance
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 |
472 | 490 | |
ADGRE3 | - | - |
GRCh38 GRCh37 |
43 | 62 | |
CASP14 | - | - |
GRCh38 GRCh37 |
60 | 76 | |
CLEC17A | - | - |
GRCh38 GRCh37 |
23 | 45 | |
DNAJB1 | - | - |
GRCh38 GRCh37 |
28 | 51 | |
GIPC1 | - | - |
GRCh38 GRCh37 |
36 | 53 | |
ILVBL | - | - |
GRCh38 GRCh37 |
57 | 79 | |
ILVBL-AS1 | - | - | - | GRCh38 | - | 12 |
LOC113939968 | - | - | - | GRCh38 | - | 7 |
LOC116276506 | - | - | - | GRCh38 | - | 6 |
There are 33 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Feb 28, 2010 | RCV000133793.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024