id String | Clinical variant evidence ID. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
phenotypes List<Phenotype> | UNKNOWN List of phenotypes for that evicende. | ageOfOnset String | Age at which the proband acquired a condition or symptoms of a that disorder. | status Status | OBSERVED | NOT_OBSERVED |
Include Page | ||||
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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 |
genomicFeature
GenomicFeature
Genomic feature.
id String | Genomic feature ID. | ||||||||
type String | Type.
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transcriptId String | Transcript ID. | ||||||||
geneName String | Gene name. | ||||||||
xrefs List<Xref> | List of synonymous.
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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 |
penetrance
Penetrance
Penetrance.
COMPLETE | |
INCOMPLETE |
panelId
String
classification
VariantClassification
Variant classification to messure the level of significance.
tier String | Tier value.
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acmg List<String> | List of ACMG terms. See https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/ | ||||||||||||||||||||||||||||||||||||||
clinicalSignificance ClinicalSignificance | Clinical significance value.
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drugResponse DrugResponse | Drug response value.
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traitAssociation TraitAssociation | Trait association.
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functionalEffect FunctionalEffect | Functional effect.
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tumorigenesis Tumorigenesis | Tumorigenesis.
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other List<String> | Custom values for classifying variants. |
score
Double
fullyExplainPhenotypes
Boolean
compoundHeterozygousVariantIds
List<String>
roleInCancer
RoleInCancer
Role in Cancer.
ONCOGENE | |
TUMOR_SUPPRESSOR_GENE | |
BOTH |
actionable
Boolean
justification
String
...