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Table 2 Patients enrolled in the CAN-Fever registry followed over a 6-month period at British Columbia Children’s Hospital with a diagnosis of periodic fever syndrome associated with an MEFV mutation

From: Periodic fever syndromes: beyond the single gene paradigm

Diagnosis MEFV allele Variant
FMF M694 V Heterozygous
K695R Heterozygous
P369S/ R408Qa
+ TNFRSP1A variant
Heterozygous
P369S/ R408Qa Heterozygous
M694 V Heterozygous
K695R Heterozygous
M694 V/ R761H Compound heterozygous
M694 V + AP4M1 variant Homozygous
Unclassified P369Sa/ R408Qa Compound heterozygous
E148Qa/ L110Pa Heterozygous
E148Qa Heterozygous
E148Qa
+ TNFRSP1A variant
Heterozygous
E148Qa Heterozygous
PFAPA V469Aa Heterozygous
TRAPS E148Qa Heterozygous
  1. aVariants of unknown significance