"Ambry Genetics"[submitter] AND "RUFY2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2569919	NM_012207.3(HNRNPH3):c.820G>A (p.Gly274Ser)	HNRNPH3, RUFY2 (G137S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284569	NM_012207.3(HNRNPH3):c.870G>C (p.Met290Ile)	HNRNPH3, RUFY2 (M284I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315777	NM_001330103.2(RUFY2):c.1729G>A (p.Glu577Lys)	RUFY2 (E612K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478000	NM_001330103.2(RUFY2):c.1625A>C (p.Glu542Ala)	RUFY2 (E542A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477540	NM_001330103.2(RUFY2):c.1487A>T (p.Gln496Leu)	RUFY2 (Q496L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393363	NM_001330103.2(RUFY2):c.1349A>C (p.Lys450Thr)	RUFY2 (K485T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157150	NM_001330103.2(RUFY2):c.1232T>G (p.Met411Arg)	RUFY2 (M411R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365921	NM_001330103.2(RUFY2):c.1151G>A (p.Arg384Gln)	RUFY2 (R350Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307195	NM_001330103.2(RUFY2):c.1135A>G (p.Asn379Asp)	RUFY2 (N321D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259377	NM_001330103.2(RUFY2):c.925T>C (p.Ser309Pro)	RUFY2 (S275P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204429	NM_001330103.2(RUFY2):c.896A>G (p.Asn299Ser)	RUFY2 (N299S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321882	NM_001330103.2(RUFY2):c.878G>A (p.Gly293Glu)	RUFY2 (G235E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604194	NM_001330103.2(RUFY2):c.863A>G (p.Lys288Arg)	RUFY2 (K254R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516190	NM_001330103.2(RUFY2):c.832G>A (p.Val278Ile)	RUFY2 (V220I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287299	NM_001330103.2(RUFY2):c.652A>C (p.Ser218Arg)	RUFY2 (S218R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315776	NM_001330103.2(RUFY2):c.595A>G (p.Ile199Val)	RUFY2 (I199V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364516	NM_001330103.2(RUFY2):c.570T>G (p.Ile190Met)	RUFY2 (I156M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157152	NM_001330103.2(RUFY2):c.278G>A (p.Arg93Gln)	RUFY2 (R128Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228870	NM_001330103.2(RUFY2):c.259G>C (p.Glu87Gln)	RUFY2 (E122Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332017	NM_001330103.2(RUFY2):c.248C>T (p.Pro83Leu)	RUFY2 (P25L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294048	NM_001330103.2(RUFY2):c.119A>G (p.Tyr40Cys)	RUFY2 (Y40C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214692	NM_001330103.2(RUFY2):c.4+420C>T	RUFY2 (R33C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255790	NM_001330103.2(RUFY2):c.4+406G>T	RUFY2 (R28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157151	NM_001330103.2(RUFY2):c.4+345T>G	RUFY2 (W8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 24