ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
LMTK3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
94 | 117 | |
CYTH2 | - | - |
GRCh38 GRCh37 |
13 | 29 | |
GRIN2D | - | - |
GRCh38 GRCh37 |
1008 | 1112 | |
GRWD1 | - | - |
GRCh38 GRCh37 |
54 | 71 | |
KCNJ14 | - | - |
GRCh38 GRCh37 |
- | 14 | |
KDELR1 | - | - |
GRCh38 GRCh37 |
9 | 21 | |
SYNGR4 | - | - |
GRCh38 GRCh37 |
21 | 33 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240360.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022