ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.32(chr19:46434490-46831000)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 | |||
CALM3 | - | - |
GRCh38 GRCh37 |
157 | 178 | |
DACT3 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
DACT3-AS1 | - | - | - | GRCh38 | - | 18 |
FKRP | - | - |
GRCh38 GRCh37 |
1046 | 1088 | |
GNG8 | - | - | - |
GRCh38 GRCh37 |
1 | 18 |
LOC112552162 | - | - | - | GRCh38 | - | 6 |
LOC125371535 | - | - | - | GRCh38 | - | 5 |
LOC125371536 | - | - | - | GRCh38 | - | 6 |
LOC126862917 | - | - | - | GRCh38 | - | 10 |
LOC126862918 | - | - | - | GRCh38 | - | 9 |
There are 38 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) |
|
Aug 12, 2011 | RCV000148268.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024