"Illumina Laboratory Services, Illumina"[submitter] AND "DUOX2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 888013	NM_001363711.2(DUOX2):c.*1438G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888014	NM_001363711.2(DUOX2):c.*1437C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888015	NM_001363711.2(DUOX2):c.*1428G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316120	NM_001363711.2(DUOX2):c.*1357A>G	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888016	NM_001363711.2(DUOX2):c.*1352G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316121	NM_001363711.2(DUOX2):c.*1315A>C	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316122	NM_001363711.2(DUOX2):c.*1244T>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316123	NM_001363711.2(DUOX2):c.*1230C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 884888	NM_001363711.2(DUOX2):c.*1203C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 884889	NM_001363711.2(DUOX2):c.*1145C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 884890	NM_001363711.2(DUOX2):c.*1064G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316124	NM_001363711.2(DUOX2):c.*914G>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 884891	NM_001363711.2(DUOX2):c.*857G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316125	NM_001363711.2(DUOX2):c.*852T>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GBenign
Select item 885810	NM_001363711.2(DUOX2):c.*778C>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 885811	NM_001363711.2(DUOX2):c.*765C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316126	NM_001363711.2(DUOX2):c.*722G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GBenign
Select item 885812	NM_001363711.2(DUOX2):c.*665G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316127	NM_001363711.2(DUOX2):c.*624C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 885813	NM_001363711.2(DUOX2):c.*591C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GLikely benign
Select item 885814	NM_001363711.2(DUOX2):c.*585A>G	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316128	NM_001363711.2(DUOX2):c.*478G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GBenign
Select item 886815	NM_001363711.2(DUOX2):c.*475G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316129	NM_001363711.2(DUOX2):c.*453T>C	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GBenign
Select item 316130	NM_001363711.2(DUOX2):c.*432G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GBenign
Select item 886816	NM_001363711.2(DUOX2):c.*418T>C	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 886817	NM_001363711.2(DUOX2):c.*417A>G	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 886818	NM_001363711.2(DUOX2):c.*405T>G	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 886819	NM_001363711.2(DUOX2):c.*353G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 886820	NM_001363711.2(DUOX2):c.*344A>G	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316131	NM_001363711.2(DUOX2):c.*227C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888095	NM_001363711.2(DUOX2):c.*72T>G	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316132	NM_001363711.2(DUOX2):c.*37C>T	DUOX2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 316133	NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly)	DUOX2 (E1546G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316134	NM_001363711.2(DUOX2):c.4619A>C (p.His1540Pro)	DUOX2 (H1540P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 316135	NM_001363711.2(DUOX2):c.4572G>T (p.Lys1524Asn)	DUOX2 (K1524N)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 632236	NM_001363711.2(DUOX2):c.4561G>T (p.Gly1521Ter)	DUOX2 (G1521*)	Single nucleotide variant (nonsense)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 888096	NM_001363711.2(DUOX2):c.4537G>A (p.Gly1513Arg)	DUOX2 (G1513R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 260327	NM_001363711.2(DUOX2):c.4479C>G (p.Pro1493=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +2 more	GBenign
Select item 884961	NM_001363711.2(DUOX2):c.4474C>T (p.Arg1492Cys)	DUOX2 (R1492C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884962	NM_001363711.2(DUOX2):c.4433G>A (p.Arg1478Gln)	DUOX2 (R1478Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 316136	NM_001363711.2(DUOX2):c.4432C>T (p.Arg1478Trp)	DUOX2 (R1478W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884963	NM_001363711.2(DUOX2):c.4409G>A (p.Arg1470Gln)	DUOX2 (R1470Q)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 884964	NM_001363711.2(DUOX2):c.4408C>T (p.Arg1470Trp)	DUOX2 (R1470W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316137	NM_001363711.2(DUOX2):c.4408C>A (p.Arg1470=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884965	NM_001363711.2(DUOX2):c.4405G>A (p.Glu1469Lys)	DUOX2 (E1469K)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 884966	NM_001363711.2(DUOX2):c.4396-15C>T	DUOX2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885876	NM_001363711.2(DUOX2):c.4393C>T (p.Leu1465=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316138	NM_001363711.2(DUOX2):c.4383G>A (p.Arg1461=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885877	NM_001363711.2(DUOX2):c.4232G>A (p.Cys1411Tyr)	DUOX2 (C1411Y)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 737483	NM_001363711.2(DUOX2):c.4207T>A (p.Ser1403Thr)	DUOX2 (S1403T)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 316139	NM_001363711.2(DUOX2):c.4171C>G (p.Pro1391Ala)	DUOX2 (P1391A)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316140	NM_001363711.2(DUOX2):c.4098G>A (p.Pro1366=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 777458	NM_001363711.2(DUOX2):c.4080+7G>A	DUOX2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885878	NM_001363711.2(DUOX2):c.4080+6C>T	DUOX2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 316141	NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu)	DUOX2 (P1350L)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 316142	NM_001363711.2(DUOX2):c.4036A>G (p.Ile1346Val)	DUOX2 (I1346V)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 886867	NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe)	DUOX2 (L1343F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886868	NM_001363711.2(DUOX2):c.3968C>A (p.Ala1323Glu)	DUOX2 (A1323E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 260325	NM_001363711.2(DUOX2):c.3966C>T (p.Ser1322=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +2 more	GBenign/Likely benign
Select item 742270	NM_001363711.2(DUOX2):c.3921C>T (p.Cys1307=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886869	NM_001363711.2(DUOX2):c.3910C>T (p.Arg1304Trp)	DUOX2 (R1304W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 886870	NM_001363711.2(DUOX2):c.3906G>C (p.Trp1302Cys)	DUOX2 (W1302C)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316143	NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly)	DUOX2 (A1277G)	Single nucleotide variant (missense variant)	DUOX2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 316144	NM_001363711.2(DUOX2):c.3820G>A (p.Val1274Met)	DUOX2 (V1274M)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888149	NM_001363711.2(DUOX2):c.3807G>T (p.Lys1269Asn)	DUOX2 (K1269N)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316145	NM_001363711.2(DUOX2):c.3759G>A (p.Pro1253=)	DUOX2	Single nucleotide variant (synonymous variant)	DUOX2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 316146	NM_001363711.2(DUOX2):c.3689C>T (p.Ala1230Val)	DUOX2 (A1230V)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888150	NM_001363711.2(DUOX2):c.3667C>G (p.His1223Asp)	DUOX2 (H1223D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632237	NM_001363711.2(DUOX2):c.3667del (p.His1223fs)	DUOX2 (H1223fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888151	NM_001363711.2(DUOX2):c.3660G>A (p.Leu1220=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 726443	NM_001363711.2(DUOX2):c.3615C>T (p.Phe1205=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 522013	NM_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile)	DUOX2 (V1187I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 316147	NM_001363711.2(DUOX2):c.3558C>T (p.Thr1186=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 748937	NM_001363711.2(DUOX2):c.3540T>C (p.Tyr1180=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316148	NM_001363711.2(DUOX2):c.3531G>T (p.Gln1177His)	DUOX2 (Q1177H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316149	NM_001363711.2(DUOX2):c.3518C>T (p.Ser1173Phe)	DUOX2 (S1173F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 260324	NM_001363711.2(DUOX2):c.3515+15T>A	DUOX2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 885032	NM_001363711.2(DUOX2):c.3515+8C>G	DUOX2	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316150	NM_001363711.2(DUOX2):c.3494C>T (p.Pro1165Leu)	DUOX2 (P1165L)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 316151	NM_001363711.2(DUOX2):c.3483C>T (p.Ala1161=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 775355	NM_001363711.2(DUOX2):c.3435C>T (p.His1145=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 316152	NM_001363711.2(DUOX2):c.3416-7C>G	DUOX2	Single nucleotide variant (intron variant)	Congenital hypothyroidism	GUncertain significance
Select item 885943	NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr)	DUOX2 (A1131T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 779835	NM_001363711.2(DUOX2):c.3367G>A (p.Ala1123Thr)	DUOX2 (A1123T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420593	NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs)	DUOX2 (L1114fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 885944	NM_001363711.2(DUOX2):c.3297C>T (p.Leu1099=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 316153	NM_001363711.2(DUOX2):c.3261G>A (p.Ala1087=)	DUOX2	Single nucleotide variant (synonymous variant)	DUOX2-related condition +2 more	GBenign/Likely benign
Select item 631731	NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter)	DUOX2 (R1084*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316154	NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met)	DUOX2 (V1078M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 260323	NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu)	DUOX2 (S1067L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 709539	NM_001363711.2(DUOX2):c.3185-9C>T	DUOX2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886944	NM_001363711.2(DUOX2):c.3179C>T (p.Ala1060Val)	DUOX2 (A1060V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631732	NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr)	DUOX2 (C1052Y)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +2 more	GConflicting classifications of pathogenicity
Select item 316155	NM_001363711.2(DUOX2):c.3127G>A (p.Val1043Met)	DUOX2 (V1043M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 631733	NM_001363711.2(DUOX2):c.3116G>A (p.Arg1039Gln)	DUOX2 (R1039Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 886945	NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met)	DUOX2 (V1035M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316156	NM_001363711.2(DUOX2):c.3098G>A (p.Arg1033His)	DUOX2 (R1033H)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 316157	NM_001363711.2(DUOX2):c.3081G>A (p.Lys1027=)	DUOX2	Single nucleotide variant (synonymous variant)	DUOX2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 316158	NM_001363711.2(DUOX2):c.3050A>G (p.Glu1017Gly)	DUOX2 (E1017G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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