ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1
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 | |||
ARMC6 | - | - | - |
GRCh38 GRCh37 |
32 | 42 |
ATP13A1 | - | - |
GRCh38 GRCh37 |
81 | 109 | |
BORCS8 | - | - |
GRCh38 GRCh37 |
- | 29 | |
CERS1 | - | - |
GRCh38 GRCh37 |
- | 460 | |
CILP2 | - | - |
GRCh38 GRCh37 |
90 | 105 | |
COPE | - | - |
GRCh38 GRCh37 |
18 | 28 | |
DDX49 | - | - | - |
GRCh38 GRCh37 |
17 | 28 |
GATAD2A | - | - |
GRCh38 GRCh37 |
48 | 66 | |
GDF1 | - | - |
GRCh38 GRCh37 |
- | 460 | |
GMIP | - | - |
GRCh38 GRCh37 |
50 | 62 |
There are 28 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986109.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024