ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3
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 |
3377 | 3672 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
382 | 413 | |
ADGRE2 | - | - |
GRCh38 GRCh37 |
459 | 477 | |
ADGRE3 | - | - |
GRCh38 GRCh37 |
37 | 56 | |
ADGRE5 | - | - |
GRCh38 GRCh37 |
49 | 91 | |
ADGRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 145 | |
ADGRL1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 130 |
ASF1B | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 31 | |
BEST2 | - | - |
GRCh38 GRCh37 |
15 | 44 | |
BRME1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 26 |
There are 343 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052910.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024