ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1
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 |
3412 | 3713 | |
ADGRE5 | - | - |
GRCh38 GRCh37 |
56 | 101 | |
ADGRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 172 | |
ASF1B | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 32 | |
BRME1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 26 | |
C19orf53 | - | - |
GRCh38 GRCh37 |
- | 16 | |
C19orf67 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 15 |
CC2D1A | - | - |
GRCh38 GRCh38 GRCh37 |
564 | 583 | |
CLEC17A | - | - |
GRCh38 GRCh37 |
23 | 45 | |
DCAF15 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 53 |
There are 22 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Nov 3, 2014 | RCV000511445.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024