"Ambry Genetics"[submitter] AND "RCC2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152695	NM_018715.4(RCC2):c.1512T>A (p.Ser504Arg)	RCC2 (S504R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152693	NM_018715.4(RCC2):c.1178A>G (p.Tyr393Cys)	RCC2 (Y393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313414	NM_018715.4(RCC2):c.1055T>C (p.Phe352Ser)	RCC2 (F352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617131	NM_018715.4(RCC2):c.1048C>G (p.Arg350Gly)	RCC2 (R350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152699	NM_018715.4(RCC2):c.940A>G (p.Ile314Val)	RCC2 (I314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152697	NM_018715.4(RCC2):c.929G>A (p.Arg310Gln)	RCC2 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350920	NM_018715.4(RCC2):c.827A>G (p.Tyr276Cys)	RCC2 (Y276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311042	NM_018715.4(RCC2):c.451C>T (p.Arg151Trp)	RCC2 (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213755	NM_018715.4(RCC2):c.446G>A (p.Arg149Gln)	RCC2 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272218	NM_018715.4(RCC2):c.385T>C (p.Tyr129His)	RCC2 (Y129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366046	NM_018715.4(RCC2):c.343G>A (p.Asp115Asn)	RCC2 (D115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481329	NM_018715.4(RCC2):c.239G>A (p.Gly80Asp)	RCC2 (G80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365903	NM_018715.4(RCC2):c.238G>T (p.Gly80Cys)	RCC2 (G80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313413	NM_018715.4(RCC2):c.197G>A (p.Gly66Asp)	RCC2 (G66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522400	NM_018715.4(RCC2):c.196G>T (p.Gly66Cys)	RCC2 (G66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152694	NM_018715.4(RCC2):c.124T>A (p.Cys42Ser)	LOC129929546, RCC2 (C42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152698	NM_018715.4(RCC2):c.92C>T (p.Pro31Leu)	LOC129929546, RCC2 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262416	NM_018715.4(RCC2):c.46T>G (p.Ser16Ala)	RCC2 (S16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313415	NM_018715.4(RCC2):c.39G>C (p.Glu13Asp)	RCC2 (E13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511091	NM_018715.4(RCC2):c.31T>C (p.Trp11Arg)	RCC2 (W11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152696	NM_018715.4(RCC2):c.20C>G (p.Ala7Gly)	RCC2 (A7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531240	NM_018715.4(RCC2):c.17C>T (p.Ala6Val)	RCC2 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22