ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.13(chr19:12974394-13408586)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 | |||
CACNA1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3405 | 3706 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
390 | 424 | |
DAND5 | - | - |
GRCh38 GRCh37 |
9 | 35 | |
IER2 | - | - |
GRCh38 GRCh37 |
16 | 47 | |
LOC108663985 | - | - | - | GRCh38 | - | 33 |
LOC110121458 | - | - | - | GRCh38 | - | 13 |
LOC111365163 | - | - | - | GRCh38 | - | 8 |
LOC112543455 | - | - | - | GRCh38 | - | 13 |
LOC112543458 | - | - | - | GRCh38 | - | 12 |
LOC117125597 | - | - | - | GRCh38 | - | 13 |
There are 50 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
|
Pathogenic (1) |
|
Apr 5, 2012 | RCV000138197.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024