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priorizationMethodName String | Priorization method name. |
phenotypes List<Phenotype> | List of phenotypes for that evicende. ageOfOnset String | Age at which the proband acquired a condition or symptoms of a that disorder. | status Status | Status. | OBSERVED |
| | NOT_OBSERVED |
| | UNKNOWN |
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consequenceTypes List<SequenceOntologyTerm> | List of Sequence Ontology terms that describe the consequence types. accession String | Accession identifier. e.g.: SO:0001583 | name String | Term name, e.g.: missense_variant |
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genomicFeature GenomicFeature | Genomic feature. id String | Genomic feature ID. | type String | Type. | transcriptId String | Transcript ID. | geneName String | Gene name. | xrefs List<Xref> | List of synonymous. id String | ID. | dbName String | DB name. | dbDisplayName String | DB display name. | description String | Description. |
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modeOfInheritance ModeOfInheritance | Mode of inheritance. | MONOALLELIC |
| | MONOALLELIC_NOT_IMPRINTED |
| | MONOALLELIC_MATERNALLY_IMPRINTED |
| | MONOALLELIC_PATERNALLY_IMPRINTED |
| | BIALLELIC |
| | MONOALLELIC_AND_BIALLELIC |
| | MONOALLELIC_AND_MORE_SEVERE_BIALLELIC |
| | XLINKED_BIALLELIC |
| | YLINKED_MONOALLELIC |
| | YLINKED |
| | MITOCHONDRIAL |
| | DE_NOVO |
| | COMPOUND_HETEROZYGOUS |
| | UNKNOWN |
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penetrance Penetrance | Penetrance. |
panelId String | Panel ID. |
classification VariantClassification | Variant classification to messure the level of significance. tier String | Tier value. | TIER_1 | tier1 | | TIER_2 | tier2 | | Tier_3 | tier3 | | UNTIERED | none |
| acmg List<String> | List of ACMG terms. See https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/ | clinicalSignificance ClinicalSignificance | Clinical significance value. | PATHOGENIC |
| | LIKELY_PATHOGENIC |
| | UNCERTAIN_SIGNIFICANCE |
| | LIKELY_BENIGN |
| | BENIGN |
| | NOT_ASSESSED |
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| drugResponse DrugResponse | Drug response value. | ALTERED_SENSITIVITY |
| | REDUCED_SENSITIVITY |
| | INCREASED_SENSITIVITY |
| | ALTERED_RESISTANCE |
| | INCREASED_RESISTANCE |
| | REDUCED_RESISTANCE |
| | INCREASED_RISK_OF_TOXICITY |
| | REDUCED_RISK_OF_TOXICITY |
| | ALTERED_TOXICITY |
| | ADVERSE_DRUG_REACTION |
| | INDICATION |
| | CONTRAINDICATION |
| | DOSING_ALTERATION |
| | INCREASED_DOSE |
| | REDUCED_DOSE |
| | INCREASED_MONITORING |
| | INCREASED_EFFICACY |
| | REDUCED_EFFICACY |
| | ALTERED_EFFICACY |
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| traitAssociation TraitAssociation | Trait association. | ESTABLISHED_RISK_ALLELE |
| | LIKELY_RISK_ALLELE |
| | UNCERTAIN_RISK_ALLELE |
| | PROTECTIVE |
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| functionalEffect FunctionalEffect | Functional effect. | DOMINANT_NEGATIVE_VARIANT |
| | GAIN_OF_FUNCTION_VARIANT |
| | LETHAL_VARIANT |
| | LOSS_OF_FUNCTION_VARIANT |
| | LOSS_OF_HETEROZYGOSITY |
| | NULL_VARIANT |
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| tumorigenesis Tumorigenesis | Tumorigenesis. | other List<String> | Custom values for classifying variants. |
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score Double | Score. |
fullyExplainPhenotypes Boolean | Fully explain phenotypes. |
compoundHeterozygousVariantIds List<String> | List of compound heterozygous variant IDs. |
roleInCancer RoleInCancer | Role in Cancer. | ONCOGENE |
| | TUMOR_SUPPRESSOR_GENE |
| | BOTH |
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actionable Boolean | Actionable variant. |
justification String | Justification. |