"Ambry Genetics"[submitter] AND "NOP56"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201252	NM_006392.4(NOP56):c.175G>C (p.Val59Leu)	NOP56 (V59L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554386	NM_006392.4(NOP56):c.376C>T (p.Arg126Cys)	NOP56 (R126C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201253	NM_006392.4(NOP56):c.377G>A (p.Arg126His)	NOP56 (R126H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239106	NM_006392.4(NOP56):c.541G>A (p.Asp181Asn)	NOP56 (D181N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471917	NM_006392.4(NOP56):c.563G>A (p.Arg188His)	NOP56 (R188H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201254	NM_006392.4(NOP56):c.606G>T (p.Lys202Asn)	NOP56 (K202N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224036	NM_006392.4(NOP56):c.635G>A (p.Arg212His)	NOP56 (R212H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300373	NM_006392.4(NOP56):c.644A>G (p.Gln215Arg)	NOP56 (Q215R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260121	NM_006392.4(NOP56):c.678C>G (p.Asp226Glu)	NOP56 (D226E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3300371	NM_006392.4(NOP56):c.707T>C (p.Met236Thr)	NOP56 (M236T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554387	NM_006392.4(NOP56):c.742T>C (p.Ser248Pro)	NOP56 (S248P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408331	NM_006392.4(NOP56):c.775A>G (p.Ile259Val)	NOP56 (I259V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2587983	NM_006392.4(NOP56):c.809G>A (p.Arg270His)	NOP56 (R270H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2222603	NM_006392.4(NOP56):c.818C>G (p.Ser273Cys)	NOP56 (S273C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522170	NM_006392.4(NOP56):c.899T>C (p.Ile300Thr)	NOP56 (I300T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400679	NM_006392.4(NOP56):c.928G>A (p.Ala310Thr)	NOP56 (A310T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201249	NM_006392.4(NOP56):c.1076G>A (p.Arg359Gln)	NOP56 (R359Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619811	NM_006392.4(NOP56):c.1147G>A (p.Asp383Asn)	NOP56 (D383N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300374	NM_006392.4(NOP56):c.1193G>A (p.Arg398Gln)	NOP56 (R398Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605172	NM_006392.4(NOP56):c.1228A>G (p.Thr410Ala)	NOP56 (T410A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224308	NM_006392.4(NOP56):c.1273A>G (p.Met425Val)	NOP56 (M425V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264081	NM_006392.4(NOP56):c.1294G>C (p.Ala432Pro)	NOP56 (A432P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467292	NM_006392.4(NOP56):c.1336C>T (p.Arg446Cys)	NOP56 (R446C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 374423	NM_006392.4(NOP56):c.1364C>T (p.Ala455Val)	NOP56 (A455V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3201250	NM_006392.4(NOP56):c.1537T>C (p.Ser513Pro)	NOP56 (S513P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300372	NM_006392.4(NOP56):c.1556G>A (p.Ser519Asn)	NOP56 (S519N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612709	NM_006392.4(NOP56):c.1561G>C (p.Asp521His)	NOP56 (D521H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2357123	NM_006392.4(NOP56):c.1622A>G (p.Glu541Gly)	NOP56 (E541G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484912	NM_006392.4(NOP56):c.1693G>A (p.Glu565Lys)	NOP56 (E565K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201251	NM_006392.4(NOP56):c.1745A>G (p.Lys582Arg)	NOP56 (K582R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 30