The entire list of Entities that comprise the Variant Pathogenicity Interpretation model are listed below. Developers trying to implement producers or consumers of interpretations will find here information about the entity definitions and the JSON Schema that can be used to validate messages.
Categorized
- Foundation
- Domain Entity
- Evidence Statement
Allele
- AggregateCosegregationStatement
- AlleleConservationScoreStatement
- AlleleConservationStatement
- AlleleFunctionalImpactStatement
- AlleleMolecularConsequenceStatement
- CaseControlAlleleFrequencyStatement
- FamilyCosegregationStatement
- InSilicoPredictionScoreStatement
- InSilicoPredictionStatement
- NullAlleleStatement
- PopulationAlleleFrequencyStatement
- RegionAllelesStatement
Condition
Feature
Individual/Family
Alphabetic
- Agent
- AggregateCosegregationStatement
- AlleleConservationScoreStatement
- AlleleConservationStatement
- AlleleFunctionalImpactStatement
- AlleleMolecularConsequenceStatement
- BenignMissenseVariationRateStatement
- CanonicalAllele
- CaseControlAlleleFrequencyStatement
- ConditionMechanismStatement
- ConditionPenetranceStatement
- ConditionPrevelanceStatement
- ContextualAllele
- ContextualAlleleName
- Contribution
- CriterionAssessment
- DomainEntity
- Entity
- EvidenceLine
- FamilyConditionStatement
- FamilyCosegregationStatement
- GeneticCondition
- Genotype
- Haplotype
- IdentifierSystem
- InSilicoPredictionScoreStatement
- InSilicoPredictionStatement
- IndividualAlleleInheritanceStatement
- IndividualConditionStatement
- IndividualGenotypeStatement
- LocusHeterogeneityStatement
- NullAlleleStatement
- PopulationAlleleFrequencyStatement
- Position
- ReferenceCoordinate
- RegionAllelesStatement
- RegionTypeStatement
- SequenceLocation
- Statement
- UserLabel
- ValueSet
- VariantPathogenicityInterpretation
- VariantPathogenicityInterpretationCriterion
- VariantPathogenicityInterpretationGuideline
Hierarchical
- Entity
- Agent
- Contribution
- DomainEntity
- EvidenceLine
- Statement
- AggregateCosegregationStatement
- AlleleConservationScoreStatement
- AlleleConservationStatement
- AlleleFunctionalImpactStatement
- AlleleMolecularConsequenceStatement
- BenignMissenseVariationRateStatement
- CaseControlAlleleFrequencyStatement
- ConditionMechanismStatement
- ConditionPenetranceStatement
- ConditionPrevelanceStatement
- CriterionAssessment
- FamilyConditionStatement
- FamilyCosegregationStatement
- InSilicoPredictionScoreStatement
- InSilicoPredictionStatement
- IndividualAlleleInheritanceStatement
- IndividualConditionStatement
- IndividualGenotypeStatement
- LocusHeterogeneityStatement
- NullAlleleStatement
- PopulationAlleleFrequencyStatement
- RegionAllelesStatement
- RegionTypeStatement
- VariantPathogenicityInterpretation
- UserLabel
- ValueSet