Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Resource Profile: Variant - Examples

Page standards status: Trial-use Maturity Level: 2

Examples for the variant Profile.

ATR-insertion-var
EGFR-L858R-var
ExampleGermlineCNV
ExampleGermlineDEL
ExampleGermlineINV
ExampleSomaticCNV
ExampleSomaticDEL
ExampleSomaticINV
ISCN-CMLExample
ISCN-NormalExample
MSH2-del-var
MultipleRepeatExpansions
NOTCH1-uncertain-var
NTHL1-snv-var
Pgx-var-1011
Pgx-var-1012
Pgx-var-1013
Pgx-var-1014
Pgx-var-1015
Pgx-var-1016
Pgx-var-1017
Pgx-var-1018
Pgx-var-1019
Pgx-var-1020
Pgx-var-1021
ROS1-Fusion-var
RepeatExpansion
SNVexample
STAG2-insertion-var
Variant-Somatic-Clinical-Trial
VariantExample
VariantExample1
VariantExample2
ZFHX3-uncertain-var
obs1-interact-smn1-smn2
obs2-interact-smn1-smn2
variant-with-molec-consequences