"Ambry Genetics"[submitter] AND "NUP42"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2462207	NM_007342.3(NUP42):c.7A>G (p.Ile3Val)	LOC129998064, NUP42 (I3V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522814	NM_007342.3(NUP42):c.134G>A (p.Arg45His)	NUP42 (R45H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492643	NM_007342.3(NUP42):c.184A>G (p.Ser62Gly)	NUP42 (S62G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610412	NM_007342.3(NUP42):c.185G>A (p.Ser62Asn)	NUP42 (S62N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550941	NM_007342.3(NUP42):c.296A>T (p.Glu99Val)	NUP42 (E99V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477133	NM_007342.3(NUP42):c.833G>A (p.Ser278Asn)	NUP42 (S80N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611045	NM_007342.3(NUP42):c.932T>G (p.Phe311Cys)	NUP42 (F311C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515830	NM_007342.3(NUP42):c.1030G>A (p.Gly344Ser)	NUP42 (G344S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514347	NM_007342.3(NUP42):c.1150A>G (p.Asn384Asp)	NUP42 (N261D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473942	NM_007342.3(NUP42):c.1163C>T (p.Thr388Ile)	NUP42 (T413I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551204	NM_007342.3(NUP42):c.1184T>G (p.Val395Gly)	NUP42 (V395G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance