ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
3392 | 3693 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
385 | 419 | |
ACP5 | - | - |
GRCh38 GRCh37 |
299 | 317 | |
BEST2 | - | - |
GRCh38 GRCh37 |
16 | 47 | |
CALR | - | - |
GRCh38 GRCh37 |
20 | 70 | |
CNN1 | - | - |
GRCh38 GRCh37 |
23 | 42 | |
DAND5 | - | - |
GRCh38 GRCh37 |
9 | 35 | |
DHPS | - | - |
GRCh38 GRCh37 |
23 | 69 | |
DNASE2 | - | - |
GRCh38 GRCh37 |
120 | 186 | |
ECSIT | - | - |
GRCh38 GRCh37 |
21 | 40 |
There are 253 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) |
|
Aug 12, 2011 | RCV000053945.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023