NXPE2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 2480104	NM_001395504.1(NXPE1):c.1610A>G (p.Asn537Ser)	NXPE1, NXPE2 (N537S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569756	NM_001395504.1(NXPE1):c.1579A>G (p.Thr527Ala)	NXPE1, NXPE2 (T527A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557879	NM_001395504.1(NXPE1):c.1529A>G (p.Asn510Ser)	NXPE1, NXPE2 (N368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203508	NM_001395504.1(NXPE1):c.1444G>C (p.Glu482Gln)	NXPE1, NXPE2 (E340Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301724	NM_001395504.1(NXPE1):c.1354C>T (p.Arg452Cys)	NXPE1, NXPE2 (R452C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263598	NM_001395504.1(NXPE1):c.1322A>G (p.His441Arg)	NXPE1, NXPE2 (H299R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458945	NM_001395504.1(NXPE1):c.1302C>G (p.Ile434Met)	NXPE1, NXPE2 (I292M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311367	NM_001395504.1(NXPE1):c.1297G>A (p.Ala433Thr)	NXPE1, NXPE2 (A291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222201	NM_001395504.1(NXPE1):c.1261C>T (p.Arg421Trp)	NXPE1, NXPE2 (R421W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301720	NM_001395504.1(NXPE1):c.1234T>C (p.Ser412Pro)	NXPE1, NXPE2 (S412P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786215	NM_001395504.1(NXPE1):c.1215C>T (p.Phe405=)	NXPE1, NXPE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3203514	NM_001395504.1(NXPE1):c.1211C>T (p.Pro404Leu)	NXPE1, NXPE2 (P262L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301722	NM_001395504.1(NXPE1):c.1195A>G (p.Lys399Glu)	NXPE1, NXPE2 (K257E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326214	NM_001395504.1(NXPE1):c.1181C>T (p.Thr394Ile)	NXPE1, NXPE2 (T394I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332864	NM_001395504.1(NXPE1):c.1152A>T (p.Lys384Asn)	NXPE1, NXPE2 (K384N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301721	NM_001395504.1(NXPE1):c.1123G>C (p.Asp375His)	NXPE1, NXPE2 (D233H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301719	NM_001395504.1(NXPE1):c.1072C>T (p.Arg358Cys)	NXPE1, NXPE2 (R358C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203513	NM_001395504.1(NXPE1):c.1064C>T (p.Ser355Phe)	NXPE1, NXPE2 (S213F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301723	NM_001395504.1(NXPE1):c.1060G>A (p.Asp354Asn)	NXPE1, NXPE2 (D212N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536164	NM_001395504.1(NXPE1):c.1048T>C (p.Tyr350His)	NXPE1, NXPE2 (Y350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203512	NM_001395504.1(NXPE1):c.1020A>G (p.Ile340Met)	NXPE1, NXPE2 (I340M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720449	NM_001395504.1(NXPE1):c.952G>A (p.Gly318Ser)	NXPE1, NXPE2 (G318S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3203511	NM_001395504.1(NXPE1):c.899G>A (p.Arg300Lys)	NXPE1, NXPE2 (R158K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203510	NM_001395504.1(NXPE1):c.866G>A (p.Arg289His)	NXPE1, NXPE2 (R147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616314	NM_001395504.1(NXPE1):c.865C>T (p.Arg289Cys)	NXPE1, NXPE2 (R147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603982	NM_001395504.1(NXPE1):c.844G>C (p.Gly282Arg)	NXPE1, NXPE2 (G282R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211222	NM_001395504.1(NXPE1):c.802C>G (p.Leu268Val)	NXPE1, NXPE2 (L126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612285	NM_001395504.1(NXPE1):c.776C>A (p.Thr259Asn)	NXPE1, NXPE2 (T259N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524712	NM_001395504.1(NXPE1):c.730T>C (p.Cys244Arg)	NXPE1, NXPE2 (C244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246591	NM_001395504.1(NXPE1):c.676T>C (p.Ser226Pro)	NXPE1, NXPE2 (S84P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256169	NM_001395504.1(NXPE1):c.667A>T (p.Thr223Ser)	NXPE2, NXPE1 (T81S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394949	NM_001395504.1(NXPE1):c.644A>G (p.His215Arg)	NXPE1, NXPE2 (H215R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716566	NM_001395504.1(NXPE1):c.570G>A (p.Ser190=)	NXPE1, NXPE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3203509	NM_001395504.1(NXPE1):c.565G>T (p.Ala189Ser)	NXPE1, NXPE2 (A189S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281624	NM_001395504.1(NXPE1):c.532C>A (p.Leu178Met)	NXPE1, NXPE2 (L178M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614689	NM_001395504.1(NXPE1):c.521G>T (p.Gly174Val)	NXPE1, NXPE2 (G32V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466057	NM_001395504.1(NXPE1):c.454G>A (p.Ala152Thr)	NXPE1, NXPE2 (A10T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352419	NM_001077639.2(NXPE4):c.1597G>A (p.Gly533Arg)	NXPE2, NXPE4 (G249R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533916	NM_001077639.2(NXPE4):c.1572T>G (p.Asn524Lys)	NXPE2, NXPE4 (N524K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203539	NM_001077639.2(NXPE4):c.1532T>C (p.Ile511Thr)	NXPE2, NXPE4 (I511T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212035	NM_001077639.2(NXPE4):c.1484A>T (p.Gln495Leu)	NXPE2, NXPE4 (Q211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212034	NM_001077639.2(NXPE4):c.1456A>G (p.Arg486Gly)	NXPE2, NXPE4 (R202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306607	NM_001077639.2(NXPE4):c.1403C>T (p.Thr468Ile)	NXPE2, NXPE4 (T184I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203538	NM_001077639.2(NXPE4):c.1402A>C (p.Thr468Pro)	NXPE2, NXPE4 (T184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250318	NM_001077639.2(NXPE4):c.1306G>C (p.Gly436Arg)	NXPE2, NXPE4 (G436R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203537	NM_001077639.2(NXPE4):c.1289T>C (p.Val430Ala)	NXPE2, NXPE4 (V146A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203536	NM_001077639.2(NXPE4):c.1274G>A (p.Gly425Glu)	NXPE2, NXPE4 (G425E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203535	NM_001077639.2(NXPE4):c.1270G>A (p.Gly424Arg)	NXPE2, NXPE4 (G424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275574	NM_001077639.2(NXPE4):c.1256C>T (p.Ala419Val)	NXPE2, NXPE4 (A135V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557279	NM_001077639.2(NXPE4):c.1232A>C (p.Lys411Thr)	NXPE2, NXPE4 (K127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612499	NM_001077639.2(NXPE4):c.1228G>C (p.Val410Leu)	NXPE2, NXPE4 (V126L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381423	NM_001077639.2(NXPE4):c.1075G>A (p.Glu359Lys)	NXPE2, NXPE4 (E359K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203534	NM_001077639.2(NXPE4):c.1064G>A (p.Arg355His)	NXPE2, NXPE4 (R71H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203533	NM_001077639.2(NXPE4):c.1063C>T (p.Arg355Cys)	NXPE2, NXPE4 (R71C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614217	NM_001077639.2(NXPE4):c.1055C>G (p.Ser352Cys)	NXPE2, NXPE4 (S352C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203544	NM_001077639.2(NXPE4):c.940A>G (p.Thr314Ala)	NXPE2, NXPE4 (T30A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203543	NM_001077639.2(NXPE4):c.907A>G (p.Met303Val)	NXPE2, NXPE4 (M19V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343196	NM_001077639.2(NXPE4):c.752G>A (p.Cys251Tyr)	NXPE2, NXPE4 (C251Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364836	NM_001077639.2(NXPE4):c.634A>G (p.Thr212Ala)	NXPE2, NXPE4 (T212A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301739	NM_001077639.2(NXPE4):c.562G>A (p.Val188Met)	NXPE2, NXPE4 (V188M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514067	NM_001077639.2(NXPE4):c.550C>T (p.Pro184Ser)	NXPE2, NXPE4 (P184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601870	NM_001077639.2(NXPE4):c.480C>A (p.Asn160Lys)	NXPE2, NXPE4 (N160K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301738	NM_001077639.2(NXPE4):c.443T>C (p.Met148Thr)	NXPE2, NXPE4 (M148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391184	NM_001077639.2(NXPE4):c.437C>T (p.Ala146Val)	NXPE2, NXPE4 (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203541	NM_001077639.2(NXPE4):c.434C>T (p.Pro145Leu)	NXPE2, NXPE4 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205758	NM_001077639.2(NXPE4):c.385C>T (p.Arg129Cys)	NXPE2, NXPE4 (R129C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343921	NM_001077639.2(NXPE4):c.329C>T (p.Thr110Met)	NXPE2, NXPE4 (T110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595980	NM_001077639.2(NXPE4):c.289G>A (p.Ala97Thr)	NXPE2, NXPE4 (A97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365492	NM_001077639.2(NXPE4):c.284C>T (p.Thr95Ile)	NXPE2, NXPE4 (T95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301736	NM_001077639.2(NXPE4):c.238G>A (p.Asp80Asn)	NXPE2, NXPE4 (D80N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203540	NM_001077639.2(NXPE4):c.226A>G (p.Ile76Val)	NXPE2, NXPE4 (I76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242087	NM_001077639.2(NXPE4):c.214A>G (p.Ile72Val)	NXPE2, NXPE4 (I72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362450	NM_001077639.2(NXPE4):c.213A>T (p.Arg71Ser)	NXPE2, NXPE4 (R71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301737	NM_001077639.2(NXPE4):c.124T>G (p.Ser42Ala)	NXPE2, NXPE4 (S42A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301076	NM_001077639.2(NXPE4):c.103T>C (p.Ser35Pro)	NXPE2, NXPE4 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275389	NM_001077639.2(NXPE4):c.102G>C (p.Trp34Cys)	NXPE2, NXPE4 (W34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203545	NM_001077639.2(NXPE4):c.94A>G (p.Lys32Glu)	NXPE2, NXPE4 (K32E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209367	NM_001077639.2(NXPE4):c.88T>C (p.Ser30Pro)	NXPE2, NXPE4 (S30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540206	NM_001077639.2(NXPE4):c.46T>C (p.Phe16Leu)	NXPE2, NXPE4 (F16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301727	NM_182495.6(NXPE2):c.59G>A (p.Arg20Gln)	NXPE2 (R20Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244467	NM_182495.6(NXPE2):c.100A>G (p.Ile34Val)	NXPE2 (I34V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557880	NM_182495.6(NXPE2):c.164T>G (p.Leu55Arg)	NXPE2 (L55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300556	NM_182495.6(NXPE2):c.257A>G (p.Asp86Gly)	NXPE2 (D86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278948	NM_182495.6(NXPE2):c.260T>G (p.Ile87Ser)	NXPE2 (I87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330967	NM_182495.6(NXPE2):c.314C>T (p.Thr105Ile)	NXPE2 (T105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203519	NM_182495.6(NXPE2):c.322A>G (p.Ser108Gly)	NXPE2 (S108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203520	NM_182495.6(NXPE2):c.365C>T (p.Thr122Met)	NXPE2 (T122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464920	NM_182495.6(NXPE2):c.382C>A (p.Gln128Lys)	NXPE2 (Q128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203521	NM_182495.6(NXPE2):c.432A>T (p.Gln144His)	NXPE2 (Q144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612711	NM_182495.6(NXPE2):c.464A>G (p.Tyr155Cys)	NXPE2 (Y155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203522	NM_182495.6(NXPE2):c.587C>G (p.Pro196Arg)	NXPE2 (P196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203523	NM_182495.6(NXPE2):c.671G>A (p.Ser224Asn)	NXPE2 (S224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258498	NM_182495.6(NXPE2):c.674C>A (p.Ser225Tyr)	NXPE2 (S225Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613481	NM_182495.6(NXPE2):c.767T>G (p.Val256Gly)	NXPE2 (V256G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203524	NM_182495.6(NXPE2):c.782T>C (p.Met261Thr)	NXPE2 (M261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484679	NM_182495.6(NXPE2):c.799A>T (p.Thr267Ser)	NXPE2 (T267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529834	NM_182495.6(NXPE2):c.802C>T (p.His268Tyr)	NXPE2 (H268Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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