"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2540	NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	MEFV (V726A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 2539	NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Recurrent fever +7 more	GPathogenic/Likely pathogenic
Select item 36507	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	See cases +6 more	GPathogenic
Select item 2544	NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	MEFV (T267I)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 3239681	NM_000243.3(MEFV):c.590del (p.Gly197fs)	MEFV (G197fs)	Deletion (frameshift variant +1 more)	Familial Mediterranean fever	GLikely pathogenic

ClinVar