ClinVar for Gene (Select 405753) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383175	NM_207581.4(DUOXA2):c.113_119del (p.Phe38fs)	DUOXA2 (F38fs)	Deletion (frameshift variant)	Thyroglobulin synthesis defect	GLikely pathogenic
Select item 3374810	NM_207581.4(DUOXA2):c.280C>T (p.Arg94Cys)	DUOXA2 (R94C)	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 3340044	NM_207581.4(DUOXA2):c.770-153A>G	DUOXA1, DUOXA2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3274014	NM_207581.4(DUOXA2):c.548C>A (p.Thr183Lys)	DUOXA2 (T183K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3086192	NM_207581.4(DUOXA2):c.412T>C (p.Tyr138His)	DUOXA2 (Y138H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3042949	NM_207581.4(DUOXA2):c.444G>A (p.Lys148=)	DUOXA2	Single nucleotide variant (synonymous variant)	DUOXA2-related disorder	GLikely benign
Select item 2682199	NM_207581.4(DUOXA2):c.78C>G (p.Ile26Met)	DUOXA2 (I26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
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 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 2605246	NM_207581.4(DUOXA2):c.610C>A (p.Leu204Ile)	DUOXA2 (L204I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597807	NM_207581.4(DUOXA2):c.350T>C (p.Val117Ala)	DUOXA2 (V117A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581549	NM_207581.4(DUOXA2):c.573G>A (p.Trp191Ter)	DUOXA2 (W191*)	Single nucleotide variant (nonsense)	Thyroglobulin synthesis defect	GPathogenic
Select item 2577093	NM_014080.4(DUOX2):c.-1842C>T	DUOX2, DUOXA2 (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573357	NM_207581.4(DUOXA2):c.671T>C (p.Leu224Ser)	DUOXA2 (L224S)	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 2495839	NM_207581.4(DUOXA2):c.203T>A (p.Val68Glu)	DUOXA2 (V68E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489087	NM_207581.4(DUOXA2):c.466T>C (p.Tyr156His)	DUOXA2 (Y156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485916	NM_207581.4(DUOXA2):c.52G>A (p.Ala18Thr)	DUOXA2 (A18T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483602	NM_207581.4(DUOXA2):c.542C>T (p.Ser181Leu)	DUOXA2 (S181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483024	NM_207581.4(DUOXA2):c.721G>A (p.Ala241Thr)	DUOXA2 (A241T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2341381	NM_207581.4(DUOXA2):c.292C>T (p.Arg98Cys)	DUOXA2 (R98C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262916	NM_207581.4(DUOXA2):c.686G>T (p.Ser229Ile)	DUOXA2 (S229I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 2227880	NM_207581.4(DUOXA2):c.130G>T (p.Gly44Trp)	DUOXA2 (G44W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210021	NM_207581.4(DUOXA2):c.676T>C (p.Ser226Pro)	DUOXA2 (S226P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806167	NM_207581.4(DUOXA2):c.298del (p.Arg100fs)	DUOXA2 (R100fs)	Deletion (frameshift variant)	Thyroglobulin synthesis defect	GPathogenic
Select item 1705348	NM_207581.4(DUOXA2):c.228G>T (p.Trp76Cys)	DUOXA2 (W76C)	Single nucleotide variant (missense variant)	Thyroglobulin synthesis defect	GLikely pathogenic
Select item 1701924	NM_207581.4(DUOXA2):c.228G>C (p.Trp76Cys)	DUOXA2 (W76C)	Single nucleotide variant (missense variant)	Thyroglobulin synthesis defect	GPathogenic/Likely pathogenic
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 1293942	NM_207581.4(DUOXA2):c.738C>T (p.Tyr246=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1287391	NM_207581.4(DUOXA2):c.554+63G>C	DUOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276941	NM_207581.4(DUOXA2):c.555-93A>G	DUOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270124	NM_207581.4(DUOXA2):c.148-30C>T	DUOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268347	NM_207581.4(DUOXA2):c.147+94C>A	DUOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266385	NM_207581.4(DUOXA2):c.-86C>T	DUOXA2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1266194	NM_207581.4(DUOXA2):c.554+29_554+30del	DUOXA2	Deletion (intron variant)	not provided	GBenign
Select item 1265544	NC_000015.10:g.45114192T>C	DUOXA2	Single nucleotide variant	not provided	GBenign
Select item 1254200	NC_000015.10:g.45114229C>T	DUOXA2	Single nucleotide variant	not provided	GBenign
Select item 1248217	NM_207581.4(DUOXA2):c.554+31T>A	DUOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243924	NM_207581.4(DUOXA2):c.341-23C>G	DUOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237291	NM_207581.4(DUOXA2):c.554+86G>A	DUOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 974896	NM_207581.4(DUOXA2):c.95dup (p.Leu32fs)	DUOXA2 (L32fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 972709	NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr)	DUOXA2 (A202T)	Single nucleotide variant (missense variant)	Thyroglobulin synthesis defect	GPathogenic
Select item 917857	NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter)	DUOXA2 (C167*)	Single nucleotide variant (nonsense)	Thyroglobulin synthesis defect	GPathogenic
Select item 791194	NM_207581.4(DUOXA2):c.519C>T (p.Tyr173=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790694	NM_207581.4(DUOXA2):c.51C>T (p.Ala17=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786261	NM_207581.4(DUOXA2):c.639C>A (p.Thr213=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764305	NM_207581.4(DUOXA2):c.554+7G>T	DUOXA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 761091	NM_207581.4(DUOXA2):c.420G>A (p.Ala140=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759414	NM_207581.4(DUOXA2):c.723G>A (p.Ala241=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755737	NM_207581.4(DUOXA2):c.561G>T (p.Ala187=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746845	NM_207581.4(DUOXA2):c.720C>A (p.Ser240=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744682	NM_207581.4(DUOXA2):c.303G>A (p.Leu101=)	DUOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744450	NM_207581.4(DUOXA2):c.118C>T (p.Leu40Phe)	DUOXA2 (L40F)	Single nucleotide variant (missense variant)	not provided	GBenign
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 726168	NM_207581.4(DUOXA2):c.769+9C>A	DUOXA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725087	NM_207581.4(DUOXA2):c.753G>T (p.Trp251Cys)	DUOXA2 (W251C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 725086	NM_207581.4(DUOXA2):c.719C>A (p.Ser240Tyr)	DUOXA2 (S240Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 685684	GRCh37/hg19 15q21.1(chr15:45063803-45772378)x3	C15orf48, DUOX1 +9 more	Copy number gain	not provided	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 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 547935	NM_207581.4(DUOXA2):c.414C>G (p.Tyr138Ter)	DUOXA2 (Y138*)	Single nucleotide variant (nonsense)	Thyroglobulin synthesis defect	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 504016	NM_207581.4(DUOXA2):c.10_11dup (p.Trp4fs)	DUOXA2 (W4fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 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 430236	NM_207581.4(DUOXA2):c.740G>C (p.Gly247Ala)	DUOXA2 (G247A)	Single nucleotide variant (missense variant)	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 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 372358	NM_207581.4(DUOXA2):c.463C>G (p.Leu155Val)	DUOXA2 (L155V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 265105	NM_207581.4(DUOXA2):c.205+2T>C	DUOXA2	Single nucleotide variant (splice donor variant)	Thyroglobulin synthesis defect +2 more	GConflicting classifications of pathogenicity
Select item 263306	NM_207581.4(DUOXA2):c.555-18C>T	DUOXA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 263305	NM_207581.4(DUOXA2):c.554+6T>C	DUOXA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 263304	NM_207581.4(DUOXA2):c.341-4A>G	DUOXA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 263303	NM_207581.4(DUOXA2):c.341-15C>T	DUOXA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 263302	NM_207581.4(DUOXA2):c.298C>G (p.Arg100Gly)	DUOXA2 (R100G)	Single nucleotide variant (missense variant)	Thyroglobulin synthesis defect +2 more	GBenign
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
Select item 225344	NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter)	DUOXA2 (Y138*)	Duplication (nonsense)	Thyroglobulin synthesis defect	GPathogenic
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance

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