MVP-DT
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Episodic kinesigenic dyskinesia (374 variants)
- not provided (167 variants)
- Inborn genetic diseases (69 variants)
- not specified (48 variants)
- Episodic kinesigenic dyskinesia 1 (32 variants)
- Seizures, benign familial infantile, 2 (26 variants)
- Infantile convulsions and choreoathetosis (23 variants)
- PRRT2-related condition (7 variants)
- Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1;Infantile convulsions and choreoathetosis (6 variants)
- Seizure (4 variants)
- Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2;Infantile convulsions and choreoathetosis (2 variants)
- PRRT2-Associated Paroxysmal Movement Disorders (2 variants)
- Infantile convulsions and choreoathetosis;Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1 (2 variants)
- Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 (1 variants)
- Neurodevelopmental delay (1 variants)
- See cases (1 variants)
- PRRT2 insufficiency (1 variants)
- lethal neurodevelopmental disorder (1 variants)
- PRRT2-related disorder (1 variants)
- Complex febrile seizure (1 variants)
- PRRT2-Related Disorders (1 variants)
- Paroxysmal nonkinesigenic dyskinesia 1 (1 variants)
- Hyperactivity;Seizure;Global developmental delay;Intellectual disability, profound (1 variants)
- Self-limited familial infantile epilepsy (1 variants)
- Infantile convulsions and choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 (1 variants)
- Episodic kinesigenic dyskinesia 1;Infantile convulsions and choreoathetosis;Seizures, benign familial infantile, 2 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MVP-DT gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 82 | 36 | 245 | 157 | 12 | 532 |
Total | 82 | 36 | 245 | 157 | 12 |
Highest pathogenic variant AF is 0.0000854
GnomAD
Source:
dbNSFP
Source: