C0751884[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339240	NM_005560.6(LAMA5):c.2323+1G>A	LAMA5	Single nucleotide variant (splice donor variant)	Presynaptic congenital myasthenic syndrome	GUncertain significance
Select item 1339241	NM_005560.6(LAMA5):c.152A>G (p.Asn51Ser)	LAMA5, LOC130066305 (N51S)	Single nucleotide variant (missense variant)	Presynaptic congenital myasthenic syndrome	GUncertain significance