ClinVar for MedGen (Select 66782) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424786	NM_000243.2(MEFV):c.[2084A>G];[2230G>T]			Familial Mediterranean fever	GLikely pathogenic
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +9 more	GConflicting classifications of pathogenicity