"Baylor Genetics"[submitter] AND "LOC126862264"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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, autosomal dominant +9 more	GConflicting classifications of pathogenicity
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)	Familial Mediterranean fever +24 more	GPathogenic/Likely pathogenic
Select item 97485	NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	LOC126862264, MEFV (I692del)	Deletion	not provided +3 more	GConflicting classifications of pathogenicity
Select item 36507	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic
Select item 2550	NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GPathogenic
Select item 2553	NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 97467	NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	LOC126862264, MEFV (G632S)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity