ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1
Germline
Classification
(1)
Pathogenic
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 | |||
LDLR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4017 | 4288 | |
SMARCA4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5566 | 5589 | |
ANGPTL8 | - | - |
GRCh38 GRCh37 |
- | 18 | |
C19orf38 | - | - | - |
GRCh38 GRCh37 |
1 | 23 |
CARM1 | - | - |
GRCh38 GRCh37 |
14 | 39 | |
CCDC159 | - | - | - |
GRCh38 GRCh37 |
24 | 40 |
CNN1 | - | - |
GRCh38 GRCh37 |
23 | 42 | |
DOCK6 | - | - |
GRCh38 GRCh37 |
910 | 1310 | |
ECSIT | - | - |
GRCh38 GRCh37 |
21 | 40 | |
ELAVL3 | - | - |
GRCh38 GRCh37 |
13 | 29 |
There are 14 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 8, 2020 | RCV001263055.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022