"Ambry Genetics"[submitter] AND "RIOK1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2567061	NM_031480.3(RIOK1):c.22A>G (p.Met8Val)	RIOK1 (M8V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2303613	NM_031480.3(RIOK1):c.185G>A (p.Gly62Asp)	RIOK1 (G62D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3154458	NM_031480.3(RIOK1):c.201T>A (p.Asp67Glu)	RIOK1 (D67E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2243516	NM_031480.3(RIOK1):c.216G>C (p.Trp72Cys)	RIOK1 (W72C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304605	NM_031480.3(RIOK1):c.238G>T (p.Ala80Ser)	RIOK1 (A80S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3154459	NM_031480.3(RIOK1):c.259G>A (p.Gly87Arg)	RIOK1 (G87R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459241	NM_031480.3(RIOK1):c.364T>A (p.Leu122Ile)	RIOK1 (L122I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219612	NM_031480.3(RIOK1):c.445A>G (p.Ile149Val)	RIOK1 (I149V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319090	NM_031480.3(RIOK1):c.449A>G (p.Lys150Arg)	RIOK1 (K46R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261780	NM_031480.3(RIOK1):c.521T>C (p.Leu174Ser)	RIOK1 (L174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154460	NM_031480.3(RIOK1):c.581T>C (p.Val194Ala)	RIOK1 (V90A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154461	NM_031480.3(RIOK1):c.716C>T (p.Pro239Leu)	RIOK1 (P135L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253046	NM_031480.3(RIOK1):c.758A>G (p.Asn253Ser)	RIOK1 (N253S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613560	NM_031480.3(RIOK1):c.820G>A (p.Val274Ile)	RIOK1 (V170I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154462	NM_031480.3(RIOK1):c.917A>C (p.Gln306Pro)	RIOK1 (Q202P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154463	NM_031480.3(RIOK1):c.931A>G (p.Met311Val)	RIOK1 (M207V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221384	NM_031480.3(RIOK1):c.1068C>G (p.Phe356Leu)	RIOK1 (F252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391561	NM_031480.3(RIOK1):c.1093A>G (p.Asn365Asp)	RIOK1 (N261D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307865	NM_031480.3(RIOK1):c.1105A>G (p.Met369Val)	RIOK1 (M265V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460569	NM_031480.3(RIOK1):c.1133T>C (p.Val378Ala)	RIOK1 (V378A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154457	NM_031480.3(RIOK1):c.1228A>T (p.Thr410Ser)	RIOK1 (T306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373496	NM_031480.3(RIOK1):c.1319A>T (p.Tyr440Phe)	RIOK1 (Y440F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517531	NM_031480.3(RIOK1):c.1333G>A (p.Asp445Asn)	RIOK1 (D445N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485262	NM_031480.3(RIOK1):c.1361A>T (p.Asp454Val)	RIOK1 (D350V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322448	NM_031480.3(RIOK1):c.1441A>C (p.Lys481Gln)	RIOK1 (K377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249351	NM_031480.3(RIOK1):c.1489G>A (p.Asp497Asn)	RIOK1 (D393N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362590	NM_031480.3(RIOK1):c.1586T>C (p.Ile529Thr)	RIOK1 (I529T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374259	NM_031480.3(RIOK1):c.1609A>G (p.Met537Val)	RIOK1 (M433V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294818	NM_031480.3(RIOK1):c.1633A>G (p.Lys545Glu)	RIOK1 (K441E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372187	NM_031480.3(RIOK1):c.1658A>G (p.His553Arg)	RIOK1 (H553R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294377	NM_031480.3(RIOK1):c.1691C>G (p.Thr564Arg)	RIOK1 (T564R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31