ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)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 |
3412 | 3713 | |
NFIX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
393 | 427 | |
ADGRE2 | - | - |
GRCh38 GRCh37 |
472 | 490 | |
ADGRE3 | - | - |
GRCh38 GRCh37 |
43 | 62 | |
ADGRE5 | - | - |
GRCh38 GRCh37 |
56 | 101 | |
ADGRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 172 | |
ADGRL1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 154 |
ASF1B | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 32 | |
BEST2 | - | - |
GRCh38 GRCh37 |
18 | 50 | |
BRME1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 26 |
There are 310 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37 , NCBI36 , GRCh38) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Feb 25, 2011 | RCV000135937.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024