"Ambry Genetics"[submitter] AND "NAT10"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2219524	NM_024662.3(NAT10):c.7C>T (p.Arg3Trp)	NAT10 (R3W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392258	NM_024662.3(NAT10):c.37C>T (p.Leu13Phe)	NAT10 (L13F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508369	NM_024662.3(NAT10):c.89G>A (p.Gly30Glu)	NAT10 (G30E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613700	NM_024662.3(NAT10):c.287T>C (p.Phe96Ser)	NAT10 (F96S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266250	NM_024662.3(NAT10):c.317A>G (p.Tyr106Cys)	NAT10 (Y34C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614248	NM_024662.3(NAT10):c.336G>T (p.Lys112Asn)	NAT10 (K112N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330733	NM_024662.3(NAT10):c.365T>C (p.Val122Ala)	NAT10 (V122A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341901	NM_024662.3(NAT10):c.394A>G (p.Asn132Asp)	NAT10 (N132D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 2622523	NM_024662.3(NAT10):c.652G>A (p.Ala218Thr)	NAT10 (A146T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205459	NM_024662.3(NAT10):c.685G>C (p.Gly229Arg)	NAT10 (G229R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609818	NM_024662.3(NAT10):c.692C>G (p.Ser231Cys)	NAT10 (S159C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529391	NM_024662.3(NAT10):c.720G>C (p.Glu240Asp)	NAT10 (E240D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372486	NM_024662.3(NAT10):c.863G>A (p.Arg288Gln)	NAT10 (R216Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384623	NM_024662.3(NAT10):c.923A>G (p.Asn308Ser)	NAT10 (N236S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338351	NM_024662.3(NAT10):c.989T>C (p.Phe330Ser)	NAT10 (F258S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238763	NM_024662.3(NAT10):c.1160T>C (p.Ile387Thr)	NAT10 (I315T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299876	NM_024662.3(NAT10):c.1349C>T (p.Thr450Met)	NAT10 (T378M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394752	NM_024662.3(NAT10):c.1414G>A (p.Ala472Thr)	NAT10 (A400T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257593	NM_024662.3(NAT10):c.1485A>G (p.Ile495Met)	NAT10 (I495M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401607	NM_024662.3(NAT10):c.1582C>T (p.Arg528Trp)	NAT10 (R456W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371288	NM_024662.3(NAT10):c.1598A>G (p.Tyr533Cys)	NAT10 (Y461C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492446	NM_024662.3(NAT10):c.1965G>T (p.Arg655Ser)	NAT10 (R583S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270272	NM_024662.3(NAT10):c.2129G>C (p.Gly710Ala)	NAT10 (G638A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554343	NM_024662.3(NAT10):c.2132T>C (p.Val711Ala)	NAT10 (V711A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360307	NM_024662.3(NAT10):c.2163G>T (p.Lys721Asn)	NAT10 (K649N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289397	NM_024662.3(NAT10):c.2207C>T (p.Thr736Ile)	NAT10 (T664I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256549	NM_024662.3(NAT10):c.2252C>T (p.Thr751Met)	NAT10 (T751M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307342	NM_024662.3(NAT10):c.2284G>A (p.Gly762Ser)	NAT10 (G690S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360551	NM_024662.3(NAT10):c.2470C>G (p.Arg824Gly)	NAT10 (R752G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481591	NM_024662.3(NAT10):c.2471G>A (p.Arg824Gln)	NAT10 (R824Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355826	NM_024662.3(NAT10):c.2609T>C (p.Ile870Thr)	NAT10 (I798T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471777	NM_024662.3(NAT10):c.2701A>G (p.Lys901Glu)	NAT10 (K901E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528638	NM_024662.3(NAT10):c.2848A>C (p.Lys950Gln)	NAT10 (K950Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530640	NM_024662.3(NAT10):c.2959A>C (p.Ser987Arg)	NAT10 (S987R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608506	NM_024662.3(NAT10):c.2972A>G (p.Asp991Gly)	NAT10 (D991G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310350	NM_024662.3(NAT10):c.3067C>T (p.Arg1023Trp)	NAT10 (R1023W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 36