ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.2(chr19:9735443-11228001)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 |
3998 | 4269 | |
SMARCA4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5482 | 5505 | |
ANGPTL6 | - | - |
GRCh38 GRCh37 |
19 | 39 | |
AP1M2 | - | - |
GRCh38 GRCh37 |
13 | 32 | |
ATG4D | - | - |
GRCh38 GRCh37 |
29 | 50 | |
C19orf38 | - | - | - |
GRCh38 GRCh37 |
1 | 23 |
CARM1 | - | - |
GRCh38 GRCh37 |
9 | 32 | |
CDC37 | - | - |
GRCh38 GRCh37 |
12 | 26 | |
CDKN2D | - | - |
GRCh38 GRCh37 |
4 | 25 | |
COL5A3 | - | - |
GRCh38 GRCh37 |
91 | 100 |
There are 176 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135403.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023