"Ambry Genetics"[submitter] AND "RIOK2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2512957	NM_018343.3(RIOK2):c.1643G>A (p.Ser548Asn)	LIX1-AS1, RIOK2 (S548N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463754	NM_018343.3(RIOK2):c.1598G>A (p.Arg533His)	LIX1-AS1, RIOK2 (R533H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272786	NM_018343.3(RIOK2):c.1468G>A (p.Ala490Thr)	LIX1-AS1, RIOK2 (A490T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349011	NM_018343.3(RIOK2):c.1391C>T (p.Pro464Leu)	LIX1-AS1, RIOK2 (P464L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391459	NM_018343.3(RIOK2):c.1364T>C (p.Leu455Ser)	RIOK2, LIX1-AS1 (L455S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253824	NM_018343.3(RIOK2):c.1334A>G (p.Tyr445Cys)	LIX1-AS1, RIOK2 (Y445C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481958	NM_018343.3(RIOK2):c.1313T>C (p.Val438Ala)	LIX1-AS1, RIOK2 (V438A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252012	NM_018343.3(RIOK2):c.1219G>A (p.Val407Ile)	RIOK2, LIX1-AS1 (V407I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525554	NM_018343.3(RIOK2):c.967G>C (p.Asp323His)	RIOK2, LIX1-AS1 (D323H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394353	NM_018343.3(RIOK2):c.886C>G (p.Leu296Val)	LIX1-AS1, RIOK2 (L296V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527062	NM_018343.3(RIOK2):c.439A>G (p.Asn147Asp)	LIX1-AS1, RIOK2 (N147D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491573	NM_018343.3(RIOK2):c.357A>C (p.Gln119His)	LIX1-AS1, RIOK2 (Q119H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305770	NM_018343.3(RIOK2):c.299A>T (p.Gln100Leu)	RIOK2, LIX1-AS1 (Q100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534833	NM_018343.3(RIOK2):c.197G>A (p.Arg66His)	LIX1-AS1, RIOK2 (R66H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253133	NM_018343.3(RIOK2):c.170T>C (p.Val57Ala)	RIOK2, LIX1-AS1 (V57A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228181	NM_018343.3(RIOK2):c.103G>A (p.Gly35Ser)	RIOK2, LIX1-AS1 (G35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328968	NM_018343.3(RIOK2):c.5G>A (p.Gly2Glu)	RIOK2, LIX1-AS1 (G2E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance