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 |
3364 | 3661 | |
LDLR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3895 | 4139 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
377 | 410 | |
SMARCA4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5481 | 5505 | |
ACP5 | - | - |
GRCh38 GRCh37 |
297 | 316 | |
ANGPTL6 | - | - |
GRCh38 GRCh37 |
19 | 41 | |
ANGPTL8 | - | - |
GRCh38 GRCh37 |
- | 19 | |
AP1M2 | - | - |
GRCh38 GRCh37 |
13 | 33 | |
ATG4D | - | - |
GRCh38 GRCh37 |
29 | 51 | |
BEST2 | - | - |
GRCh38 GRCh37 |
10 | 36 |
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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 6, 2011 | RCV000052908.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023