ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3
Germline
Classification
(1)
Likely 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 | |||
CACNA1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3380 | 3675 | |
LDLR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4017 | 4288 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
382 | 413 | |
SMARCA4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5565 | 5588 | |
ACP5 | - | - |
GRCh38 GRCh37 |
299 | 317 | |
ANGPTL6 | - | - |
GRCh38 GRCh37 |
25 | 46 | |
ANGPTL8 | - | - |
GRCh38 GRCh37 |
- | 18 | |
AP1M2 | - | - |
GRCh38 GRCh37 |
25 | 44 | |
ATG4D | - | - |
GRCh38 GRCh37 |
38 | 60 | |
BEST2 | - | - |
GRCh38 GRCh37 |
15 | 44 |
There are 528 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
May 6, 2011 | RCV000052908.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024