"Ambry Genetics"[submitter] AND "NOP53"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2541140	NM_015710.5(NOP53):c.5C>T (p.Ala2Val)	LOC130064829, NOP53 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547040	NM_015710.5(NOP53):c.7G>A (p.Ala3Thr)	LOC130064829, NOP53 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624106	NM_015710.5(NOP53):c.132G>C (p.Lys44Asn)	LOC130064829, NOP53 (K44N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588965	NM_015710.5(NOP53):c.187T>C (p.Phe63Leu)	LOC130064829, NOP53 (F63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455298	NM_015710.5(NOP53):c.244C>G (p.Pro82Ala)	NOP53 (P82A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559240	NM_015710.5(NOP53):c.278C>G (p.Ser93Cys)	NOP53 (S93C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592510	NM_015710.5(NOP53):c.389C>T (p.Ala130Val)	NOP53 (A130V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532096	NM_015710.5(NOP53):c.406G>T (p.Ala136Ser)	NOP53 (A136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537309	NM_015710.5(NOP53):c.413A>G (p.Gln138Arg)	NOP53 (Q138R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468654	NM_015710.5(NOP53):c.439C>T (p.Arg147Trp)	NOP53 (R147W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521153	NM_015710.5(NOP53):c.454T>C (p.Trp152Arg)	NOP53 (W152R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526161	NM_015710.5(NOP53):c.482T>C (p.Leu161Pro)	NOP53 (L161P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608571	NM_015710.5(NOP53):c.686A>G (p.His229Arg)	NOP53 (H229R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616051	NM_015710.5(NOP53):c.688A>G (p.Thr230Ala)	NOP53 (T230A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525013	NM_015710.5(NOP53):c.704C>T (p.Ala235Val)	NOP53 (A235V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2537724	NM_015710.5(NOP53):c.712G>A (p.Val238Met)	NOP53 (V238M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457874	NM_015710.5(NOP53):c.722C>T (p.Ala241Val)	NOP53 (A241V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589258	NM_015710.5(NOP53):c.862G>A (p.Ala288Thr)	NOP53 (A288T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538975	NM_015710.5(NOP53):c.865A>C (p.Thr289Pro)	NOP53 (T289P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455055	NM_015710.5(NOP53):c.1091G>A (p.Arg364Gln)	NOP53 (R364Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479305	NM_015710.5(NOP53):c.1187G>A (p.Arg396Gln)	NOP53 (R396Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592566	NM_015710.5(NOP53):c.1204A>G (p.Lys402Glu)	NOP53 (K402E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598156	NM_015710.5(NOP53):c.1210C>G (p.Arg404Gly)	NOP53 (R404G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518364	NM_015710.5(NOP53):c.1421G>A (p.Arg474His)	NOP53 (R474H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24