ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.2(chr19:12204632-13497073)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 |
3375 | 3670 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
382 | 413 | |
BEST2 | - | - |
GRCh38 GRCh37 |
15 | 44 | |
CALR | - | - |
GRCh38 GRCh37 |
20 | 68 | |
DAND5 | - | - |
GRCh38 GRCh37 |
9 | 33 | |
DHPS | - | - |
GRCh38 GRCh37 |
23 | 66 | |
DNASE2 | - | - |
GRCh38 GRCh37 |
120 | 184 | |
FARSA | - | - |
GRCh38 GRCh37 |
37 | 71 | |
FBXW9 | - | - |
GRCh38 GRCh37 |
35 | 60 | |
GADD45GIP1 | - | - |
GRCh38 GRCh37 |
18 | 42 |
There are 33 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000449161.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024