"Ambry Genetics"[submitter] AND "NAE1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173389	NM_003905.4(NAE1):c.1549A>C (p.Asn517His)	NAE1 (N520H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353160	NM_003905.4(NAE1):c.1529C>G (p.Thr510Ser)	NAE1 (T421S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513870	NM_003905.4(NAE1):c.1447T>A (p.Cys483Ser)	NAE1 (C394S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254276	NM_003905.4(NAE1):c.1361T>C (p.Ile454Thr)	NAE1 (I448T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346512	NM_003905.4(NAE1):c.1177G>T (p.Val393Leu)	NAE1 (V387L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248014	NM_003905.4(NAE1):c.1114C>T (p.Pro372Ser)	NAE1 (P366S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293473	NM_003905.4(NAE1):c.1111G>A (p.Ala371Thr)	NAE1 (A282T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173370	NM_003905.4(NAE1):c.1066G>A (p.Ala356Thr)	NAE1 (A267T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173436	NM_003905.4(NAE1):c.973G>A (p.Val325Ile)	NAE1 (V328I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280607	NM_003905.4(NAE1):c.877C>T (p.Arg293Cys)	NAE1 (R287C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240111	NM_003905.4(NAE1):c.869A>C (p.Asn290Thr)	NAE1 (N293T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304045	NM_003905.4(NAE1):c.809A>G (p.Lys270Arg)	NAE1 (K181R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592514	NM_003905.4(NAE1):c.709T>G (p.Tyr237Asp)	NAE1 (Y148D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325396	NM_003905.4(NAE1):c.632A>G (p.His211Arg)	NAE1 (H205R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173415	NM_003905.4(NAE1):c.612G>A (p.Met204Ile)	NAE1 (M115I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410348	NM_003905.4(NAE1):c.611T>C (p.Met204Thr)	NAE1 (M198T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408877	NM_003905.4(NAE1):c.560A>G (p.Lys187Arg)	NAE1 (K98R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551069	NM_003905.4(NAE1):c.530A>G (p.Asp177Gly)	NAE1 (D171G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248076	NM_003905.4(NAE1):c.484A>G (p.Met162Val)	NAE1 (M156V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457215	NM_003905.4(NAE1):c.394C>G (p.Pro132Ala)	NAE1 (P126A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528548	NM_003905.4(NAE1):c.360C>G (p.Phe120Leu)	NAE1 (F31L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373653	NM_003905.4(NAE1):c.344A>G (p.Asn115Ser)	NAE1 (N109S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173392	NM_003905.4(NAE1):c.263C>T (p.Ala88Val)	NAE1 (A82V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551796	NM_003905.4(NAE1):c.244G>A (p.Gly82Ser)	NAE1 (G82S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620372	NM_003905.4(NAE1):c.32A>G (p.Gln11Arg)	NAE1 (Q11R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 25