|
gptkbp:instanceOf
|
Tourism
|
|
gptkbp:appliesTo
|
clinical sequencing
|
|
gptkbp:containsGene
|
gptkb:RYR1
gptkb:RYR2
gptkb:KCNE1
gptkb:KCNE2
gptkb:KCNJ2
gptkb:NF1
gptkb:PRKAG2
gptkb:TSC1
gptkb:TSC2
gptkb:MLH1
gptkb:MSH2
gptkb:MSH6
gptkb:PMS2
gptkb:CYP2C9
gptkb:CYP3A5
gptkb:JUP
gptkb:MAX
gptkb:GATA2
gptkb:NBN
gptkb:CYP2C19
gptkb:RB1
gptkb:LPL
gptkb:APC
gptkb:CDH1
gptkb:GAA
gptkb:PALB2
gptkb:BAP1
gptkb:CYP21A2
gptkb:NUDT15
gptkb:SCN1B
gptkb:SCN2B
gptkb:SCN3B
gptkb:TGFBR2
gptkb:BMPR1A
gptkb:CEBPA
gptkb:DSC2
gptkb:NF2
gptkb:TGFBR1
gptkb:RET
gptkb:DES
gptkb:TTR
gptkb:APOE
gptkb:CYP2D6
gptkb:LDLR
gptkb:WT1
gptkb:DSG2
gptkb:PCSK9
gptkb:LMNA
gptkb:MUTYH
gptkb:UGT1A1
gptkb:APOB
gptkb:KCNQ1
gptkb:PTEN
gptkb:SMAD4
gptkb:BRCA1
gptkb:DSP
gptkb:GLA
gptkb:SDHA
gptkb:SDHB
gptkb:SDHC
gptkb:SDHD
gptkb:FBN1
gptkb:FH
gptkb:TTN
gptkb:BRCA2
gptkb:CDKN2A
gptkb:PTCH1
gptkb:RUNX1
gptkb:TP53
gptkb:KCNH2
gptkb:SCN5A
gptkb:SMARCA4
gptkb:SMARCB1
gptkb:DPYD
gptkb:MYH7
gptkb:STK11
gptkb:ETV6
gptkb:EPCAM
gptkb:VHL
gptkb:PKP2
gptkb:MEN1
ATM
PLN
CACNA1C
TNNI3
TNNT2
TPM1
MYL2
MYL3
LAMP2
MYBPC3
CYP1B1
ACTC1
ANKRD26
APOA5
APOC2
CACNB2
DICER1
POLD1
POLE
SLCO1B1
SUFU
TMEM127
TMEM43
TPMT
VKORC1
|
|
gptkbp:containsGeneList
|
73 genes
|
|
gptkbp:focusesOn
|
secondary findings in clinical exome and genome sequencing
|
|
gptkbp:fullName
|
American College of Medical Genetics and Genomics Secondary Findings v3.0
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ACMG SF v3.0
|
|
gptkbp:precededBy
|
gptkb:ACMG_SF_v2.0
|
|
gptkbp:publicationYear
|
2021
|
|
gptkbp:publishedBy
|
gptkb:American_College_of_Medical_Genetics_and_Genomics
|
|
gptkbp:purpose
|
recommendations for reporting secondary findings
|
|
gptkbp:replacedBy
|
gptkb:ACMG_SF_v2.0
|
|
gptkbp:bfsParent
|
gptkb:ACMG_recommendations_for_reporting_of_incidental_findings_in_clinical_exome_and_genome_sequencing
|
|
gptkbp:bfsLayer
|
7
|