ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1
Germline
Classification
(1)
Pathogenic
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 | |||
LDLR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4017 | 4288 | |
SMARCA4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5565 | 5588 | |
ACP5 | - | - |
GRCh38 GRCh37 |
299 | 317 | |
ANGPTL8 | - | - |
GRCh38 GRCh37 |
- | 18 | |
AP1M2 | - | - |
GRCh38 GRCh37 |
25 | 44 | |
ATG4D | - | - |
GRCh38 GRCh37 |
38 | 60 | |
BEST2 | - | - |
GRCh38 GRCh37 |
15 | 44 | |
C19orf38 | - | - | - |
GRCh38 GRCh37 |
1 | 23 |
CALR | - | - |
GRCh38 GRCh37 |
20 | 68 | |
CARM1 | - | - |
GRCh38 GRCh37 |
14 | 39 |
There are 79 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986120.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024