"Ambry Genetics"[submitter] AND "NUS1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230141	NM_138459.5(NUS1):c.27G>T (p.Trp9Cys)	NUS1 (W9C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489224	NM_138459.5(NUS1):c.28C>G (p.Arg10Gly)	NUS1 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2062835	NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)	NUS1 (L12P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985983	NM_138459.5(NUS1):c.104G>A (p.Trp35Ter)	NUS1 (W35*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2300044	NM_138459.5(NUS1):c.128C>G (p.Ala43Gly)	NUS1 (A43G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524773	NM_138459.5(NUS1):c.152C>T (p.Pro51Leu)	NUS1 (P51L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1363268	NM_138459.5(NUS1):c.166C>T (p.Leu56Phe)	NUS1 (L56F)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GUncertain significance
Select item 2511436	NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)	NUS1 (R57C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GUncertain significance
Select item 2066458	NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)	NUS1 (P72S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GConflicting classifications of pathogenicity
Select item 1033081	NM_138459.5(NUS1):c.246C>G (p.His82Gln)	NUS1 (H82Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2335602	NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)	NUS1 (S93T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GUncertain significance
Select item 985786	NM_138459.5(NUS1):c.443T>A (p.Leu148Ter)	NUS1 (L148*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1302676	NM_138459.5(NUS1):c.650G>T (p.Arg217Ile)	NUS1 (R217I)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +2 more	GUncertain significance
Select item 1488415	NM_138459.5(NUS1):c.844C>T (p.Arg282Cys)	NUS1 (R282C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GConflicting classifications of pathogenicity