"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RUBCN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2399490	NM_014687.4(RUBCN):c.2644A>G (p.Met882Val)	RUBCN (M882V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3379527	NM_014687.4(RUBCN):c.2426T>C (p.Val809Ala)	RUBCN (V764A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379528	NM_014687.4(RUBCN):c.2138C>T (p.Ala713Val)	RUBCN (A668V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379529	NM_014687.4(RUBCN):c.1877C>T (p.Ala626Val)	RUBCN (A581V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379530	NM_014687.4(RUBCN):c.1367G>A (p.Arg456Gln)	RUBCN (R411Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380983	NM_014687.4(RUBCN):c.1358-2A>G	RUBCN	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 3379531	NM_014687.4(RUBCN):c.1042A>C (p.Ser348Arg)	RUBCN (S288R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2509775	NM_014687.4(RUBCN):c.356G>A (p.Arg119His)	RUBCN (R119H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar