"Ambry Genetics"[submitter] AND "NUP43"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2281048	NM_198887.3(NUP43):c.1046G>T (p.Arg349Met)	NUP43 (R349M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556021	NM_198887.3(NUP43):c.1035A>C (p.Leu345Phe)	NUP43 (L345F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405893	NM_198887.3(NUP43):c.1003C>G (p.Pro335Ala)	NUP43 (P335A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616748	NM_198887.3(NUP43):c.946A>G (p.Ile316Val)	NUP43 (I316V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301720	NM_198887.3(NUP43):c.880G>A (p.Asp294Asn)	NUP43 (D294N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348951	NM_198887.3(NUP43):c.815C>G (p.Ser272Cys)	NUP43 (S272C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279061	NM_198887.3(NUP43):c.674G>A (p.Arg225Lys)	NUP43 (R225K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210908	NM_198887.3(NUP43):c.478C>G (p.His160Asp)	NUP43 (H160D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357795	NM_198887.3(NUP43):c.416G>A (p.Cys139Tyr)	NUP43 (C139Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301430	NM_198887.3(NUP43):c.91A>T (p.Thr31Ser)	NUP43 (T31S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211737	NM_198887.3(NUP43):c.19A>G (p.Lys7Glu)	NUP43 (K7E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance