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interpretationMethodName

String

Interpretation 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

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

genomicFeature

GenomicFeature

Genomic feature.

id

String

Genomic feature ID.

type

String

Type.

GENE
VARIANT
REGION

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.

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

penetrance

Penetrance

Penetrance.

COMPLETE
INCOMPLETE

panelId

String

Panel ID.

classification

VariantClassification

Variant classification to messure the level of significance.

tier

String

Tier value.

TIER_1tier1
TIER_2tier2
Tier_3tier3
UNTIEREDnone

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

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

traitAssociation

TraitAssociation

Trait association.

ESTABLISHED_RISK_ALLELE
LIKELY_RISK_ALLELE
UNCERTAIN_RISK_ALLELE
PROTECTIVE

functionalEffect

FunctionalEffect

Functional effect.

DOMINANT_NEGATIVE_VARIANT
GAIN_OF_FUNCTION_VARIANT
LETHAL_VARIANT
LOSS_OF_FUNCTION_VARIANT
LOSS_OF_HETEROZYGOSITY
NULL_VARIANT

tumorigenesis

Tumorigenesis

Tumorigenesis.

DRIVER
PASSENGER
MODIFIER

other

List<String>

Custom values for classifying variants.

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

actionable

Boolean

Actionable variant.

justification

String

Justification.
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