ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1
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 | |||
BEST2 | - | - |
GRCh38 GRCh37 |
15 | 44 | |
DHPS | - | - |
GRCh38 GRCh37 |
23 | 66 | |
FBXW9 | - | - |
GRCh38 GRCh37 |
35 | 60 | |
GET3 | - | - |
GRCh38 GRCh37 |
14 | 39 | |
GNG14 | - | - | - | GRCh38 | 1 | 10 |
HOOK2 | - | - |
GRCh38 GRCh37 |
52 | 84 | |
LINC02926 | - | - | - | GRCh38 | - | 8 |
LOC112543446 | - | - | - | GRCh38 | - | 8 |
LOC112543448 | - | - | - | GRCh38 | - | 16 |
LOC117038783 | - | - | - | GRCh38 | - | 9 |
There are 49 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 18, 2014 | RCV000141814.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024