Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

Table 3 Gene variants^a associated with patient’s clinical phenotype

Gene	Disease	Mode of inheritance	Variant	Coding DNA	Zygosity	Inherited from	^bClassification
NLRP12	NLRP12-related disorder	Autosomal dominant / recessive	T260 M	c.779 C > T	Heterozygous	Mother	Variant of Unknown Significance
NLRP12	NLRP12-related disorder	Autosomal dominant / recessive	T320 M	c.959 C > T	Heterozygous	Father	Variant of Unknown Significance
NLRP12	NLRP12-related disorder	Autosomal dominant / recessive	G39V	c.116 G > T	Heterozygous	Father	Likely benign
MEFV	FMF	Autosomal dominant / recessive	P369S	c.1105C > T	Heterozygous	Father	Variant of Unknown Significance
MEFV	FMF	Autosomal dominant / recessive	R408Q	c.1223G > A	Heterozygous	Father	Variant of Unknown Significance

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