"Ambry Genetics"[submitter] AND "RRM1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156447	NM_001033.5(RRM1):c.121A>G (p.Met41Val)	RRM1 (M41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315431	NM_001033.5(RRM1):c.131T>C (p.Ile44Thr)	RRM1 (I44T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311341	NM_001033.5(RRM1):c.304T>C (p.Tyr102His)	RRM1 (Y5H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156453	NM_001033.5(RRM1):c.305A>G (p.Tyr102Cys)	RRM1 (Y102C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156454	NM_001033.5(RRM1):c.367A>G (p.Ile123Val)	RRM1 (I123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338175	NM_001033.5(RRM1):c.388C>T (p.Arg130Cys)	RRM1 (R130C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156455	NM_001033.5(RRM1):c.431A>G (p.Asn144Ser)	RRM1 (N47S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156456	NM_001033.5(RRM1):c.479A>G (p.Asn160Ser)	RRM1 (N63S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156457	NM_001033.5(RRM1):c.543A>C (p.Glu181Asp)	RRM1 (E181D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156458	NM_001033.5(RRM1):c.629C>G (p.Thr210Ser)	RRM1 (T210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209447	NM_001033.5(RRM1):c.829A>G (p.Arg277Gly)	RRM1 (R180G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156449	NM_001033.5(RRM1):c.1238G>A (p.Arg413Gln)	RRM1 (R413Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599706	NM_001033.5(RRM1):c.1321G>A (p.Val441Ile)	RRM1 (V344I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315432	NM_001033.5(RRM1):c.1424G>A (p.Arg475Gln)	RRM1 (R378Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156450	NM_001033.5(RRM1):c.1489C>T (p.Arg497Cys)	RRM1 (R400C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315430	NM_001033.5(RRM1):c.1541T>G (p.Leu514Arg)	RRM1 (L417R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156451	NM_001033.5(RRM1):c.1552C>T (p.Pro518Ser)	RRM1 (P421S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156452	NM_001033.5(RRM1):c.1553C>G (p.Pro518Arg)	RRM1 (P518R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231756	NM_001033.5(RRM1):c.1562G>A (p.Ser521Asn)	RRM1 (S299N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488137	NM_001033.5(RRM1):c.1640C>G (p.Ala547Gly)	RRM1 (A450G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559968	NM_001033.5(RRM1):c.1681G>C (p.Val561Leu)	RRM1 (V464L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310104	NM_001033.5(RRM1):c.1703A>G (p.Tyr568Cys)	RRM1 (Y568C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237778	NM_001033.5(RRM1):c.1747G>T (p.Val583Phe)	RRM1 (V583F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291992	NM_001033.5(RRM1):c.1964T>C (p.Met655Thr)	RRM1 (M433T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398623	NM_001033.5(RRM1):c.2014A>G (p.Ile672Val)	RRM1 (I334V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485416	NM_001033.5(RRM1):c.2069C>G (p.Thr690Ser)	RRM1 (T593S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558923	NM_001033.5(RRM1):c.2261A>C (p.Lys754Thr)	RRM1 (K416T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27