ClinVar for MedGen (Select 867425) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 598968	NM_001379110.1(SLC9A6):c.1662-19_1662-3del	SLC9A6	Deletion (intron variant)	Secondary microcephaly +14 more	GLikely pathogenic
Select item 598953	NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	QARS1 (Y477C +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +12 more	GConflicting classifications of pathogenicity
Select item 598952	NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	QARS1 (R378C +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +14 more	GConflicting classifications of pathogenicity
Select item 217458	NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)	PPP2R1A (R258H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +11 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 +24 more	GPathogenic/Likely pathogenic

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