ClinVar for Gene (Select 53905) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350736	NM_175940.3(DUOX1):c.4366C>T (p.Gln1456Ter)	DUOX1 (Q1456*)	Single nucleotide variant (nonsense)	DUOX1-related disorder	GUncertain significance
Select item 3274002	NM_175940.3(DUOX1):c.616C>A (p.Pro206Thr)	DUOX1 (P206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274001	NM_175940.3(DUOX1):c.2860G>A (p.Ala954Thr)	DUOX1 (A954T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274000	NM_175940.3(DUOX1):c.931C>T (p.Arg311Trp)	DUOX1 (R311W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273999	NM_175940.3(DUOX1):c.4269G>A (p.Thr1423=)	DUOX1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3273998	NM_175940.3(DUOX1):c.2137G>C (p.Val713Leu)	DUOX1 (V713L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273997	NM_175940.3(DUOX1):c.1747G>A (p.Val583Ile)	DUOX1 (V583I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273996	NM_175940.3(DUOX1):c.2393T>C (p.Leu798Pro)	DUOX1 (L798P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273995	NM_175940.3(DUOX1):c.1901G>A (p.Ser634Asn)	DUOX1 (S634N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273994	NM_175940.3(DUOX1):c.146C>T (p.Ser49Phe)	DUOX1 (S49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273993	NM_175940.3(DUOX1):c.3227C>G (p.Thr1076Arg)	DUOX1 (T1076R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273992	NM_175940.3(DUOX1):c.3691C>T (p.Leu1231Phe)	DUOX1 (L1231F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273991	NM_175940.3(DUOX1):c.1922T>C (p.Val641Ala)	DUOX1 (V641A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273990	NM_175940.3(DUOX1):c.2656A>G (p.Ile886Val)	DUOX1 (I886V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273989	NM_175940.3(DUOX1):c.1067G>C (p.Ser356Thr)	DUOX1 (S356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273988	NM_175940.3(DUOX1):c.315C>G (p.His105Gln)	DUOX1 (H105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273987	NM_175940.3(DUOX1):c.383C>T (p.Pro128Leu)	DUOX1 (P128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086172	NM_175940.3(DUOX1):c.947C>T (p.Pro316Leu)	DUOX1 (P316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086171	NM_175940.3(DUOX1):c.764A>G (p.Tyr255Cys)	DUOX1 (Y255C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086170	NM_175940.3(DUOX1):c.670G>A (p.Gly224Arg)	DUOX1 (G224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086169	NM_175940.3(DUOX1):c.4445G>A (p.Ser1482Asn)	DUOX1 (S1482N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086168	NM_175940.3(DUOX1):c.3871C>T (p.Arg1291Trp)	DUOX1 (R1291W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086167	NM_175940.3(DUOX1):c.3787G>A (p.Asp1263Asn)	DUOX1 (D1263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086166	NM_175940.3(DUOX1):c.3715G>A (p.Gly1239Ser)	DUOX1 (G1239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086165	NM_175940.3(DUOX1):c.3536C>A (p.Pro1179His)	DUOX1 (P1179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086164	NM_175940.3(DUOX1):c.3355C>T (p.Arg1119Cys)	DUOX1 (R1119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086163	NM_175940.3(DUOX1):c.3236C>T (p.Thr1079Ile)	DUOX1 (T1079I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086162	NM_175940.3(DUOX1):c.2926G>A (p.Asp976Asn)	DUOX1 (D976N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086161	NM_175940.3(DUOX1):c.2854C>T (p.Arg952Trp)	DUOX1 (R952W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086160	NM_175940.3(DUOX1):c.2730G>C (p.Gln910His)	DUOX1 (Q910H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086159	NM_175940.3(DUOX1):c.2359C>T (p.Pro787Ser)	DUOX1 (P787S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086158	NM_175940.3(DUOX1):c.1889A>G (p.Gln630Arg)	DUOX1 (Q630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086157	NM_175940.3(DUOX1):c.187G>A (p.Val63Met)	DUOX1 (V63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086156	NM_175940.3(DUOX1):c.1604C>A (p.Thr535Asn)	DUOX1 (T535N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086154	NM_175940.3(DUOX1):c.1004C>A (p.Pro335His)	DUOX1 (P335H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3057141	NM_175940.3(DUOX1):c.2570G>A (p.Arg857His)	DUOX1 (R857H)	Single nucleotide variant (missense variant)	DUOX1-related disorder	GLikely benign
Select item 3038463	NM_175940.3(DUOX1):c.143-3C>A	DUOX1	Single nucleotide variant (intron variant)	DUOX1-related disorder	GLikely benign
Select item 3024775	NM_175940.3(DUOX1):c.173G>A (p.Ser58Asn)	DUOX1 (S58N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3019967	NM_175940.3(DUOX1):c.3524+15_3524+26del	DUOX1	Deletion (intron variant)	not provided	GLikely benign
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2645304	NM_175940.3(DUOX1):c.4561G>C (p.Gly1521Arg)	DUOX1 (G1521R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645303	NM_175940.3(DUOX1):c.4547G>A (p.Gly1516Glu)	DUOX1 (G1516E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645302	NM_175940.3(DUOX1):c.4442G>A (p.Arg1481Gln)	DUOX1 (R1481Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645301	NM_175940.3(DUOX1):c.4392G>T (p.Arg1464Ser)	DUOX1 (R1464S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645300	NM_175940.3(DUOX1):c.4271G>A (p.Arg1424Gln)	DUOX1 (R1424Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645299	NM_175940.3(DUOX1):c.3929G>T (p.Cys1310Phe)	DUOX1 (C1310F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645298	NM_175940.3(DUOX1):c.2343C>T (p.Ala781=)	DUOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645297	NM_175940.3(DUOX1):c.1524A>G (p.Leu508=)	DUOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645296	NM_175940.3(DUOX1):c.1264A>T (p.Ser422Cys)	DUOX1 (S422C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645295	NM_175940.3(DUOX1):c.615T>C (p.Phe205=)	DUOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645294	NM_175940.3(DUOX1):c.580A>G (p.Arg194Gly)	DUOX1 (R194G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645293	NM_175940.3(DUOX1):c.579C>G (p.Ser193=)	DUOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2629493	NM_175940.3(DUOX1):c.3789C>A (p.Asp1263Glu)	DUOX1 (D1263E)	Single nucleotide variant (missense variant)	DUOX1-related disorder	GUncertain significance
Select item 2618089	NM_175940.3(DUOX1):c.1397A>G (p.Glu466Gly)	DUOX1 (E466G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617261	NM_175940.3(DUOX1):c.3286A>G (p.Met1096Val)	DUOX1 (M1096V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604176	NM_175940.3(DUOX1):c.2070C>A (p.Asn690Lys)	DUOX1 (N690K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603550	NM_175940.3(DUOX1):c.4621C>T (p.Arg1541Trp)	DUOX1 (R1541W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543874	NM_175940.3(DUOX1):c.851T>C (p.Ile284Thr)	DUOX1 (I284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536734	NM_175940.3(DUOX1):c.1081C>T (p.Leu361Phe)	DUOX1 (L361F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522774	NM_175940.3(DUOX1):c.3394C>G (p.Leu1132Val)	DUOX1 (L1132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522006	NM_175940.3(DUOX1):c.1859G>A (p.Arg620Gln)	DUOX1 (R620Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516995	NM_175940.3(DUOX1):c.2513G>A (p.Arg838Gln)	DUOX1 (R838Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515347	NM_175940.3(DUOX1):c.3949G>A (p.Glu1317Lys)	DUOX1 (E1317K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499649	GRCh38/hg38 15q21.1(chr15:45092835-45433283)	AFG2B, C15orf48 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2495982	NM_175940.3(DUOX1):c.1148C>T (p.Ala383Val)	DUOX1 (A383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495654	NM_175940.3(DUOX1):c.1774G>A (p.Gly592Arg)	DUOX1 (G592R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458251	NM_175940.3(DUOX1):c.4147T>C (p.Ser1383Pro)	DUOX1 (S1383P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424189	NC_000015.9:g.(?_45152372)_(45670651_?)dup	DUOX1, DUOX2 +7 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2402757	NM_175940.3(DUOX1):c.569G>C (p.Arg190Pro)	DUOX1 (R190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394933	NM_175940.3(DUOX1):c.2794C>T (p.Arg932Cys)	DUOX1 (R932C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384231	NM_175940.3(DUOX1):c.2698G>C (p.Val900Leu)	DUOX1 (V900L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364848	NM_175940.3(DUOX1):c.1519C>T (p.Arg507Trp)	DUOX1 (R507W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357468	NM_175940.3(DUOX1):c.4463G>A (p.Arg1488His)	DUOX1 (R1488H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351844	NM_175940.3(DUOX1):c.3107G>A (p.Arg1036His)	DUOX1 (R1036H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351311	NM_175940.3(DUOX1):c.4418G>A (p.Arg1473Gln)	DUOX1 (R1473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351069	NM_175940.3(DUOX1):c.337G>A (p.Val113Met)	DUOX1 (V113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343726	NM_175940.3(DUOX1):c.2839A>G (p.Ile947Val)	DUOX1 (I947V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336712	NM_175940.3(DUOX1):c.3728T>C (p.Leu1243Pro)	DUOX1 (L1243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329375	NM_175940.3(DUOX1):c.2188C>T (p.Arg730Trp)	DUOX1 (R730W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325494	NM_175940.3(DUOX1):c.1733C>T (p.Ala578Val)	DUOX1 (A578V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325129	NM_175940.3(DUOX1):c.4162G>A (p.Gly1388Arg)	DUOX1 (G1388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303254	NM_175940.3(DUOX1):c.3104A>T (p.Lys1035Met)	DUOX1 (K1035M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294783	NM_175940.3(DUOX1):c.3376G>C (p.Ala1126Pro)	DUOX1 (A1126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289795	NM_175940.3(DUOX1):c.1111G>A (p.Glu371Lys)	DUOX1 (E371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286282	NM_175940.3(DUOX1):c.610G>A (p.Ala204Thr)	DUOX1 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280429	NM_175940.3(DUOX1):c.448C>T (p.Arg150Cys)	DUOX1 (R150C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270965	NM_175940.3(DUOX1):c.3640C>T (p.Arg1214Cys)	DUOX1 (R1214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269896	NM_175940.3(DUOX1):c.1975G>A (p.Val659Met)	DUOX1 (V659M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266181	NM_175940.3(DUOX1):c.3646C>T (p.Arg1216Cys)	DUOX1 (R1216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262843	NM_175940.3(DUOX1):c.3860T>C (p.Val1287Ala)	DUOX1 (V1287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259447	NM_175940.3(DUOX1):c.4133A>G (p.His1378Arg)	DUOX1 (H1378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256062	NM_175940.3(DUOX1):c.1058G>A (p.Arg353Gln)	DUOX1 (R353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253474	NM_175940.3(DUOX1):c.3448G>A (p.Val1150Met)	DUOX1 (V1150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252905	NM_175940.3(DUOX1):c.890C>G (p.Pro297Arg)	DUOX1 (P297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252133	NM_175940.3(DUOX1):c.1283G>A (p.Arg428Gln)	DUOX1 (R428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238339	NM_175940.3(DUOX1):c.4581G>C (p.Lys1527Asn)	DUOX1 (K1527N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236031	NM_175940.3(DUOX1):c.3361G>C (p.Val1121Leu)	DUOX1 (V1121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232686	NM_175940.3(DUOX1):c.2059C>G (p.Gln687Glu)	DUOX1 (Q687E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215308	NM_175940.3(DUOX1):c.2788G>A (p.Glu930Lys)	DUOX1 (E930K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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