"Ambry Genetics"[submitter] AND "RUVBL2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2588243	NM_006666.3(RUVBL2):c.32C>T (p.Pro11Leu)	RUVBL2 (P11L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2591397	NM_006666.3(RUVBL2):c.41G>A (p.Arg14His)	RUVBL2 (R14H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2206682	NM_006666.3(RUVBL2):c.106G>A (p.Ala36Thr)	RUVBL2 (A36T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3157244	NM_006666.3(RUVBL2):c.172G>A (p.Val58Met)	RUVBL2 (V58M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205750	NM_006666.3(RUVBL2):c.307A>G (p.Ile103Val)	RUVBL2 (I58V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348928	NM_006666.3(RUVBL2):c.389G>A (p.Arg130His)	RUVBL2 (R85H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157245	NM_006666.3(RUVBL2):c.451G>A (p.Ala151Thr)	RUVBL2 (A117T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330470	NM_006666.3(RUVBL2):c.452C>A (p.Ala151Glu)	RUVBL2 (A106E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378968	NM_006666.3(RUVBL2):c.704G>A (p.Arg235His)	RUVBL2 (R190H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457449	NM_006666.3(RUVBL2):c.758G>A (p.Arg253His)	RUVBL2 (R219H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157246	NM_006666.3(RUVBL2):c.814G>A (p.Val272Ile)	RUVBL2 (V272I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387941	NM_006666.3(RUVBL2):c.975C>G (p.Ile325Met)	RUVBL2 (I325M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456729	NM_006666.3(RUVBL2):c.1087A>T (p.Ser363Cys)	RUVBL2 (S363C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457542	NM_006666.3(RUVBL2):c.1114C>T (p.Arg372Cys)	RUVBL2 (R327C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398028	NM_006666.3(RUVBL2):c.1198C>T (p.Arg400Cys)	RUVBL2 (R400C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366084	NM_006666.3(RUVBL2):c.1240C>T (p.Arg414Trp)	RUVBL2 (R369W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238606	NM_006666.3(RUVBL2):c.1372G>A (p.Glu458Lys)	RUVBL2 (E458K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance