STYXL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 2535451	NM_001080426.3(STYXL2):c.5C>T (p.Ala2Val)	STYXL2 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171902	NM_001080426.3(STYXL2):c.46G>C (p.Glu16Gln)	STYXL2 (E16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323501	NM_001080426.3(STYXL2):c.63C>A (p.Asn21Lys)	STYXL2 (N21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171906	NM_001080426.3(STYXL2):c.71C>T (p.Ala24Val)	STYXL2 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171910	NM_001080426.3(STYXL2):c.86A>G (p.Tyr29Cys)	STYXL2 (Y29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171914	NM_001080426.3(STYXL2):c.92G>A (p.Arg31Gln)	STYXL2 (R31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171867	NM_001080426.3(STYXL2):c.191A>G (p.Gln64Arg)	STYXL2 (Q64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484568	NM_001080426.3(STYXL2):c.218C>T (p.Pro73Leu)	STYXL2 (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715851	NM_001080426.3(STYXL2):c.231A>T (p.Ala77=)	STYXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3171874	NM_001080426.3(STYXL2):c.235G>A (p.Ala79Thr)	STYXL2 (A79T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171878	NM_001080426.3(STYXL2):c.263C>G (p.Ala88Gly)	STYXL2 (A88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323504	NM_001080426.3(STYXL2):c.274C>A (p.Leu92Met)	STYXL2 (L92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171899	NM_001080426.3(STYXL2):c.358C>T (p.Arg120Trp)	STYXL2 (R120W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639527	NM_001080426.3(STYXL2):c.359G>A (p.Arg120Gln)	STYXL2 (R120Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3171900	NM_001080426.3(STYXL2):c.362C>A (p.Ala121Asp)	STYXL2 (A121D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526906	NM_001080426.3(STYXL2):c.370C>G (p.Gln124Glu)	STYXL2 (Q124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545080	NM_001080426.3(STYXL2):c.400G>T (p.Val134Leu)	STYXL2 (V134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323511	NM_001080426.3(STYXL2):c.406G>C (p.Glu136Gln)	STYXL2 (E136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171901	NM_001080426.3(STYXL2):c.410T>C (p.Val137Ala)	STYXL2 (V137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775621	NM_001080426.3(STYXL2):c.438-10C>T	STYXL2	Single nucleotide variant	not provided	GBenign
Select item 783013	NM_001080426.3(STYXL2):c.459G>C (p.Gly153=)	STYXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474142	NM_001080426.3(STYXL2):c.538A>T (p.Thr180Ser)	STYXL2 (T180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496218	NM_001080426.3(STYXL2):c.563G>A (p.Gly188Asp)	STYXL2 (G188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171903	NM_001080426.3(STYXL2):c.589G>A (p.Val197Met)	STYXL2 (V197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171904	NM_001080426.3(STYXL2):c.611G>A (p.Arg204Gln)	STYXL2 (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171905	NM_001080426.3(STYXL2):c.676G>C (p.Glu226Gln)	STYXL2 (E226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171907	NM_001080426.3(STYXL2):c.763G>C (p.Val255Leu)	STYXL2 (V255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467927	NM_001080426.3(STYXL2):c.763G>A (p.Val255Met)	STYXL2 (V255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617104	NM_001080426.3(STYXL2):c.766C>G (p.Arg256Gly)	STYXL2 (R256G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171908	NM_001080426.3(STYXL2):c.767G>A (p.Arg256His)	STYXL2 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596945	NM_001080426.3(STYXL2):c.794A>G (p.Glu265Gly)	STYXL2 (E265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323514	NM_001080426.3(STYXL2):c.860G>A (p.Gly287Asp)	STYXL2 (G287D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171909	NM_001080426.3(STYXL2):c.868G>T (p.Gly290Trp)	STYXL2 (G290W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528887	NM_001080426.3(STYXL2):c.868G>C (p.Gly290Arg)	STYXL2 (G290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171911	NM_001080426.3(STYXL2):c.886G>A (p.Glu296Lys)	STYXL2 (E296K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171913	NM_001080426.3(STYXL2):c.929A>T (p.His310Leu)	STYXL2 (H310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171915	NM_001080426.3(STYXL2):c.955G>A (p.Asp319Asn)	STYXL2 (D319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171916	NM_001080426.3(STYXL2):c.988G>A (p.Gly330Arg)	STYXL2 (G330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171852	NM_001080426.3(STYXL2):c.1029C>G (p.Asp343Glu)	STYXL2 (D343E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545255	NM_001080426.3(STYXL2):c.1039G>A (p.Glu347Lys)	STYXL2 (E347K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171853	NM_001080426.3(STYXL2):c.1165G>A (p.Val389Met)	STYXL2 (V389M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611736	NM_001080426.3(STYXL2):c.1172G>A (p.Arg391Lys)	STYXL2 (R391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323513	NM_001080426.3(STYXL2):c.1196G>T (p.Arg399Leu)	STYXL2 (R399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514695	NM_001080426.3(STYXL2):c.1200C>G (p.Asn400Lys)	STYXL2 (N400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171854	NM_001080426.3(STYXL2):c.1232G>T (p.Trp411Leu)	STYXL2 (W411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559660	NM_001080426.3(STYXL2):c.1268C>A (p.Ala423Asp)	STYXL2 (A423D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323512	NM_001080426.3(STYXL2):c.1270G>T (p.Gly424Cys)	STYXL2 (G424C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171855	NM_001080426.3(STYXL2):c.1274C>T (p.Ser425Phe)	STYXL2 (S425F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619915	NM_001080426.3(STYXL2):c.1292G>A (p.Arg431Gln)	STYXL2 (R431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171856	NM_001080426.3(STYXL2):c.1295G>A (p.Arg432His)	STYXL2 (R432H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171857	NM_001080426.3(STYXL2):c.1323G>C (p.Glu441Asp)	STYXL2 (E441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171858	NM_001080426.3(STYXL2):c.1339G>C (p.Asp447His)	STYXL2 (D447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610305	NM_001080426.3(STYXL2):c.1345T>A (p.Trp449Arg)	STYXL2 (W449R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171859	NM_001080426.3(STYXL2):c.1387G>A (p.Gly463Ser)	STYXL2 (G463S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530942	NM_001080426.3(STYXL2):c.1402G>A (p.Ala468Thr)	STYXL2 (A468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323507	NM_001080426.3(STYXL2):c.1418C>T (p.Ser473Leu)	STYXL2 (S473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171860	NM_001080426.3(STYXL2):c.1511C>A (p.Ala504Glu)	STYXL2 (A504E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171861	NM_001080426.3(STYXL2):c.1567G>A (p.Val523Met)	STYXL2 (V523M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171862	NM_001080426.3(STYXL2):c.1634A>G (p.Glu545Gly)	STYXL2 (E545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639528	NM_001080426.3(STYXL2):c.1681T>C (p.Leu561=)	STYXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171863	NM_001080426.3(STYXL2):c.1697G>A (p.Ser566Asn)	STYXL2 (S566N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171864	NM_001080426.3(STYXL2):c.1741C>A (p.Pro581Thr)	STYXL2 (P581T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542243	NM_001080426.3(STYXL2):c.1850C>T (p.Ser617Leu)	STYXL2 (S617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468285	NM_001080426.3(STYXL2):c.1889T>C (p.Leu630Pro)	STYXL2 (L630P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171865	NM_001080426.3(STYXL2):c.1899C>A (p.Ser633Arg)	STYXL2 (S633R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171866	NM_001080426.3(STYXL2):c.1901G>A (p.Arg634Gln)	STYXL2 (R634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525465	NM_001080426.3(STYXL2):c.1942G>A (p.Ala648Thr)	STYXL2 (A648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171868	NM_001080426.3(STYXL2):c.1955C>T (p.Thr652Met)	STYXL2 (T652M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171869	NM_001080426.3(STYXL2):c.1987T>C (p.Trp663Arg)	STYXL2 (W663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769541	NM_001080426.3(STYXL2):c.2027C>T (p.Thr676Met)	STYXL2 (T676M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3171870	NM_001080426.3(STYXL2):c.2054G>A (p.Arg685His)	STYXL2 (R685H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171871	NM_001080426.3(STYXL2):c.2087C>T (p.Ala696Val)	STYXL2 (A696V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323508	NM_001080426.3(STYXL2):c.2089G>A (p.Gly697Arg)	STYXL2 (G697R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171872	NM_001080426.3(STYXL2):c.2116C>A (p.Pro706Thr)	STYXL2 (P706T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323506	NM_001080426.3(STYXL2):c.2183C>T (p.Ala728Val)	STYXL2 (A728V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171873	NM_001080426.3(STYXL2):c.2186A>G (p.Asn729Ser)	STYXL2 (N729S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509776	NM_001080426.3(STYXL2):c.2239C>T (p.Arg747Cys)	STYXL2 (R747C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323509	NM_001080426.3(STYXL2):c.2240G>A (p.Arg747His)	STYXL2 (R747H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323502	NM_001080426.3(STYXL2):c.2272C>T (p.Pro758Ser)	STYXL2 (P758S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469776	NM_001080426.3(STYXL2):c.2330C>T (p.Ser777Phe)	STYXL2 (S777F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568578	NM_001080426.3(STYXL2):c.2384T>C (p.Met795Thr)	STYXL2 (M795T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171875	NM_001080426.3(STYXL2):c.2422C>T (p.Pro808Ser)	STYXL2 (P808S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769542	NM_001080426.3(STYXL2):c.2478C>T (p.Leu826=)	STYXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3171876	NM_001080426.3(STYXL2):c.2513G>A (p.Arg838Gln)	STYXL2 (R838Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171877	NM_001080426.3(STYXL2):c.2552T>A (p.Met851Lys)	STYXL2 (M851K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323503	NM_001080426.3(STYXL2):c.2637T>G (p.Asp879Glu)	STYXL2 (D879E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171880	NM_001080426.3(STYXL2):c.2693A>G (p.Tyr898Cys)	STYXL2 (Y898C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171881	NM_001080426.3(STYXL2):c.2701C>T (p.Arg901Cys)	STYXL2 (R901C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171882	NM_001080426.3(STYXL2):c.2759A>G (p.His920Arg)	STYXL2 (H920R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171883	NM_001080426.3(STYXL2):c.2792T>G (p.Met931Arg)	STYXL2 (M931R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171884	NM_001080426.3(STYXL2):c.2837A>G (p.Glu946Gly)	STYXL2 (E946G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171885	NM_001080426.3(STYXL2):c.2867G>A (p.Gly956Glu)	STYXL2 (G956E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171886	NM_001080426.3(STYXL2):c.2872T>G (p.Ser958Ala)	STYXL2 (S958A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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