"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986379	NM_005087.4(FXR1):c.247A>G (p.Lys83Glu)	FXR1 (K83E)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy	GUncertain significance
Select item 986381	NM_005087.4(FXR1):c.346A>G (p.Asn116Asp)	FXR1 (N116D +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy	GUncertain significance
Select item 828055	NM_005087.4(FXR1):c.1603+733del	FXR1	Deletion (intron variant)	Multiminicore myopathy	GUncertain significance

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