ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.43(chr19:57546443-57889946)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 | |||
LOC125384550 | - | - | - | GRCh38 | - | 14 |
LOC126862946 | - | - | - | GRCh38 | - | 12 |
LOC126862947 | - | - | - | GRCh38 | - | 14 |
LOC129391146 | - | - | - | GRCh38 | - | 17 |
LOC130065185 | - | - | - | GRCh38 | - | 12 |
LOC130065186 | - | - | - | GRCh38 | - | 13 |
LOC130065187 | - | - | - | GRCh38 | - | 12 |
LOC130065188 | - | - | - | GRCh38 | - | 12 |
LOC130065189 | - | - | - | GRCh38 | - | 12 |
LOC130065190 | - | - | - | GRCh38 | - | 12 |
There are 29 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) |
|
Apr 30, 2011 | RCV000141360.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023