DUOXA1[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance
Select item 584325	NC_000015.9:g.(?_45152372)_(45670671_?)dup	LOC130056982, LOC121847946 +26 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	LOC130057000, LOC130057001 +40 more	Copy number gain	See cases	GUncertain significance
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	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 1230800	NM_207581.4(DUOXA2):c.770-182C>G	DUOXA1, DUOXA2 (R433P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3340044	NM_207581.4(DUOXA2):c.770-153A>G	DUOXA1, DUOXA2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2645291	NM_001276266.2(DUOXA1):c.*1446C>T	DUOXA1, DUOXA2 (P391L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 424181	NM_207581.4(DUOXA2):c.778_779del (p.Cys260fs)	DUOXA1, DUOXA2 (C260fs +2 more)	Microsatellite (frameshift variant +1 more)	not specified +1 more	GUncertain significance
Select item 2245550	NM_001276266.2(DUOXA1):c.*1377G>C	DUOXA1, DUOXA2 (R368T +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3274013	NM_207581.4(DUOXA2):c.817G>A (p.Val273Ile)	DUOXA1, DUOXA2 (H357Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086193	NM_207581.4(DUOXA2):c.821G>C (p.Arg274Pro)	DUOXA1, DUOXA2 (R274P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 726997	NM_207581.4(DUOXA2):c.831T>G (p.Ala277=)	DUOXA1, DUOXA2 (E397A +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2645292	NM_001276266.2(DUOXA1):c.*1325G>T	DUOXA1, DUOXA2 (E351* +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 720698	NM_207581.4(DUOXA2):c.893_894del (p.Leu298fs)	DUOXA1, DUOXA2 (L298fs)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 2362330	NM_207581.4(DUOXA2):c.939A>T (p.Leu313Phe)	DUOXA1, DUOXA2 (L313F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244000	NM_001276266.2(DUOXA1):c.*1200C>A	DUOXA1, DUOXA2 (H385Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 501495	NM_207581.4(DUOXA2):c.963_*1del (p.Ter321TrpextTer?)	DUOXA1, DUOXA2 (H340fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2243643	NM_001276266.2(DUOXA1):c.*1067C>A	DUOXA1, DUOXA2 +1 more (A341E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2511833	NM_001276266.2(DUOXA1):c.959C>G (p.Pro320Arg)	DUOXA1 (P275R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086191	NM_001276266.2(DUOXA1):c.951G>T (p.Gln317His)	DUOXA1 (Q317H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258037	NM_001276266.2(DUOXA1):c.916C>T (p.Arg306Cys)	DUOXA1 (R306C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366501	NM_001276266.2(DUOXA1):c.913C>A (p.Pro305Thr)	DUOXA1 (P305T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549891	NM_001276266.2(DUOXA1):c.898G>A (p.Gly300Ser)	DUOXA1 (G255S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274012	NM_001276266.2(DUOXA1):c.892G>A (p.Glu298Lys)	DUOXA1 (E253K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225129	NM_001276266.2(DUOXA1):c.806C>T (p.Ala269Val)	DUOXA1 (A224V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086190	NM_001276266.2(DUOXA1):c.784G>T (p.Val262Leu)	DUOXA1 (V217L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256492	NM_001276266.2(DUOXA1):c.763T>A (p.Leu255Met)	DUOXA1 (L210M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306992	NM_001276266.2(DUOXA1):c.755G>C (p.Trp252Ser)	DUOXA1 (W207S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299926	NM_001276266.2(DUOXA1):c.749C>T (p.Ala250Val)	DUOXA1 (A205V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291681	NM_001276266.2(DUOXA1):c.748G>A (p.Ala250Thr)	DUOXA1 (A250T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534286	NM_001276266.2(DUOXA1):c.740A>G (p.His247Arg)	DUOXA1 (H202R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086188	NM_001276266.2(DUOXA1):c.678G>T (p.Met226Ile)	DUOXA1 (M181I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274011	NM_001276266.2(DUOXA1):c.629T>C (p.Leu210Pro)	DUOXA1 (L210P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520093	NM_001276266.2(DUOXA1):c.512G>A (p.Arg171His)	DUOXA1 (R171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274010	NM_001276266.2(DUOXA1):c.499T>C (p.Cys167Arg)	DUOXA1 (C167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268537	NM_001276266.2(DUOXA1):c.473C>A (p.Ala158Asp)	DUOXA1 (A113D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358041	NM_001276266.2(DUOXA1):c.456C>A (p.Asp152Glu)	DUOXA1 (D107E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717378	NM_001276266.2(DUOXA1):c.398G>T (p.Arg133Leu)	DUOXA1 (R133L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715827	NM_001276266.2(DUOXA1):c.397C>T (p.Arg133Cys)	DUOXA1 (R88C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2387582	NM_001276266.2(DUOXA1):c.157T>C (p.Trp53Arg)	DUOXA1 (W53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086185	NM_001276266.2(DUOXA1):c.146C>T (p.Thr49Met)	DUOXA1 (T49M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405135	NM_001276266.2(DUOXA1):c.136C>T (p.Arg46Trp)	DUOXA1 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274009	NM_001276266.2(DUOXA1):c.118G>A (p.Val40Ile)	DUOXA1 (V40I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086184	NM_001276266.2(DUOXA1):c.112T>C (p.Phe38Leu)	DUOXA1 (F38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086189	NM_001276266.2(DUOXA1):c.77G>A (p.Ser26Asn)	DUOXA1 (S26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086187	NM_001276266.2(DUOXA1):c.64A>G (p.Thr22Ala)	DUOXA1 (T22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086186	NM_001276266.2(DUOXA1):c.60G>A (p.Met20Ile)	DUOXA1 (M20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366765	NC_000015.9:g.(?_45406523)_(45410620_?)del	DUOXA1, DUOXA2	Deletion	Thyroglobulin synthesis defect	GPathogenic
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 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2424189	NC_000015.9:g.(?_45152372)_(45670651_?)dup	DUOX1, DUOX2 +7 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1526450	GRCh37/hg19 15q21.1(chr15:45056077-45772114)	C15orf48, DUOX1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	AFG2B, DUOX2 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 980034	GRCh37/hg19 15q21.1(chr15:45056077-45772378)x3	SORD, TERB2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685684	GRCh37/hg19 15q21.1(chr15:45063803-45772378)x3	C15orf48, DUOX1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 547142	GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2	DUOX1, DUOX2 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442681	GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3	AFG2B, C15orf48 +10 more	Copy number gain	See cases	GUncertain significance
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 253933	GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3	C15orf48, TERB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance

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Items: 69