NUP42[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203188	NM_007342.3(NUP42):c.133C>T (p.Arg45Cys)	NUP42 (R45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522814	NM_007342.3(NUP42):c.134G>A (p.Arg45His)	NUP42 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203190	NM_007342.3(NUP42):c.167A>T (p.Asn56Ile)	NUP42 (N56I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492643	NM_007342.3(NUP42):c.184A>G (p.Ser62Gly)	NUP42 (S62G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610412	NM_007342.3(NUP42):c.185G>A (p.Ser62Asn)	NUP42 (S62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203191	NM_007342.3(NUP42):c.206G>C (p.Trp69Ser)	NUP42 (W69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301565	NM_007342.3(NUP42):c.207G>C (p.Trp69Cys)	NUP42 (W69C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203192	NM_007342.3(NUP42):c.265A>G (p.Thr89Ala)	NUP42 (T89A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203193	NM_007342.3(NUP42):c.281G>T (p.Gly94Val)	NUP42 (G94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550941	NM_007342.3(NUP42):c.296A>T (p.Glu99Val)	NUP42 (E99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203194	NM_007342.3(NUP42):c.371T>C (p.Met124Thr)	NUP42 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203198	NM_007342.3(NUP42):c.532G>A (p.Val178Ile)	NUP42 (V178I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3301564	NM_007342.3(NUP42):c.538C>T (p.Arg180Cys)	NUP42 (R57C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203199	NM_007342.3(NUP42):c.548A>T (p.Asn183Ile)	NUP42 (N183I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203202	NM_007342.3(NUP42):c.776C>A (p.Ser259Tyr)	NUP42 (S61Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477133	NM_007342.3(NUP42):c.833G>A (p.Ser278Asn)	NUP42 (S80N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301567	NM_007342.3(NUP42):c.856C>G (p.Pro286Ala)	NUP42 (P163A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203203	NM_007342.3(NUP42):c.877C>G (p.Pro293Ala)	NUP42 (P170A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301566	NM_007342.3(NUP42):c.909C>G (p.Phe303Leu)	NUP42 (F180L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611045	NM_007342.3(NUP42):c.932T>G (p.Phe311Cys)	NUP42 (F311C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203184	NM_007342.3(NUP42):c.1010G>C (p.Gly337Ala)	NUP42 (G214A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203185	NM_007342.3(NUP42):c.1018A>G (p.Ser340Gly)	NUP42 (S142G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515830	NM_007342.3(NUP42):c.1030G>A (p.Gly344Ser)	NUP42 (G344S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514347	NM_007342.3(NUP42):c.1150A>G (p.Asn384Asp)	NUP42 (N261D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473942	NM_007342.3(NUP42):c.1163C>T (p.Thr388Ile)	NUP42 (T413I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551204	NM_007342.3(NUP42):c.1184T>G (p.Val395Gly)	NUP42 (V395G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203186	NM_007342.3(NUP42):c.1214A>C (p.Lys405Thr)	NUP42 (K402T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203187	NM_007342.3(NUP42):c.1261C>A (p.Leu421Ile)	NUP42 (L223I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28