"Ambry Genetics"[submitter] AND "RRM2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2508259	NM_001034.4(RRM2):c.-24G>T	RRM2 (A53S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3156459	NM_001034.4(RRM2):c.39C>G (p.Asp13Glu)	RRM2 (D73E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315434	NM_001034.4(RRM2):c.89A>G (p.Lys30Arg)	RRM2 (K30R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514506	NM_001034.4(RRM2):c.178A>G (p.Thr60Ala)	RRM2 (T120A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340347	NM_001034.4(RRM2):c.266A>G (p.Asp89Gly)	RRM2 (D149G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614254	NM_001034.4(RRM2):c.434T>C (p.Leu145Ser)	RRM2 (L145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156460	NM_001034.4(RRM2):c.554A>G (p.Lys185Arg)	RRM2 (K185R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246600	NM_001034.4(RRM2):c.596C>T (p.Thr199Met)	RRM2 (T259M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343224	NR_164157.1(RRM2):n.1182A>T	C2orf48, RRM2 (M26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259439	NM_182626.2:c.145T>C	C2orf48, RRM2	Single nucleotide variant	not specified	GUncertain significance
Select item 2223871	NR_164157.1(RRM2):n.1554C>A	C2orf48, RRM2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance