DUOX2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1907

<< First< Prev

Page of 20

	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	SLC28A2, SLC28A2-AS1 +26 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	AFG2B, C15orf48 +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 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 2499649	GRCh38/hg38 15q21.1(chr15:45092835-45433283)	DUOXA1, DUOXA2 +31 more	Copy number gain	Anomalous pulmonary venous return	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 2957774	NM_001363711.2(DUOX2):c.4644C>T (p.Phe1548=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004075	NM_001363711.2(DUOX2):c.4638G>A (p.Glu1546=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1679585	NM_001363711.2(DUOX2):c.4634A>G (p.Tyr1545Cys)	DUOX2 (Y1545C)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 2515937	NM_001363711.2(DUOX2):c.4631A>G (p.His1544Arg)	DUOX2 (H1544R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2974924	NM_001363711.2(DUOX2):c.4629C>T (p.His1543=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106803	NM_001363711.2(DUOX2):c.4628A>G (p.His1543Arg)	DUOX2 (H1543R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580187	NM_001363711.2(DUOX2):c.4626G>T (p.Met1542Ile)	DUOX2 (M1542I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2852339	NM_001363711.2(DUOX2):c.4625T>C (p.Met1542Thr)	DUOX2 (M1542T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043268	NM_001363711.2(DUOX2):c.4623C>T (p.Phe1541=)	DUOX2	Single nucleotide variant (synonymous variant)	DUOX2-related condition	GLikely benign
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 2090528	NM_001363711.2(DUOX2):c.4616C>G (p.Ala1539Gly)	DUOX2 (A1539G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794342	NM_001363711.2(DUOX2):c.4612C>G (p.Arg1538Gly)	DUOX2 (R1538G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443200	NM_001363711.2(DUOX2):c.4612C>T (p.Arg1538Ter)	DUOX2 (R1538*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1354142	NM_001363711.2(DUOX2):c.4604G>A (p.Arg1535Lys)	DUOX2 (R1535K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665413	NM_001363711.2(DUOX2):c.4603A>G (p.Arg1535Gly)	DUOX2 (R1535G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 739081	NM_001363711.2(DUOX2):c.4603A>C (p.Arg1535=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914259	NM_001363711.2(DUOX2):c.4598T>C (p.Val1533Ala)	DUOX2 (V1533A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1385313	NM_001363711.2(DUOX2):c.4597G>T (p.Val1533Phe)	DUOX2 (V1533F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1152636	NM_001363711.2(DUOX2):c.4597G>A (p.Val1533Ile)	DUOX2 (V1533I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1041994	NM_001363711.2(DUOX2):c.4597G>C (p.Val1533Leu)	DUOX2 (V1533L)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 1914659	NM_001363711.2(DUOX2):c.4596C>T (p.Leu1532=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504240	NM_001363711.2(DUOX2):c.4589G>A (p.Cys1530Tyr)	DUOX2 (C1530Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022846	NM_001363711.2(DUOX2):c.4585G>A (p.Ala1529Thr)	DUOX2 (A1529T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550452	NM_001363711.2(DUOX2):c.4584G>A (p.Lys1528=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095053	NM_001363711.2(DUOX2):c.4581G>T (p.Glu1527Asp)	DUOX2 (E1527D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 792176	NM_001363711.2(DUOX2):c.4575T>C (p.Asn1525=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2783963	NM_001363711.2(DUOX2):c.4569C>T (p.Thr1523=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2494441	NM_001363711.2(DUOX2):c.4558C>T (p.Pro1520Ser)	DUOX2 (P1520S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1416911	NM_001363711.2(DUOX2):c.4558C>G (p.Pro1520Ala)	DUOX2 (P1520A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863914	NM_001363711.2(DUOX2):c.4557T>C (p.Pro1519=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347608	NM_001363711.2(DUOX2):c.4556C>G (p.Pro1519Arg)	DUOX2 (P1519R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990710	NM_001363711.2(DUOX2):c.4553G>A (p.Gly1518Asp)	DUOX2 (G1518D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1210930	NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser)	DUOX2 (G1518S)	Single nucleotide variant (missense variant)	DUOX2-related condition +1 more	GPathogenic/Likely pathogenic
Select item 1663648	NM_001363711.2(DUOX2):c.4551C>T (p.Cys1517=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352770	NM_001363711.2(DUOX2):c.4546A>G (p.Ser1516Gly)	DUOX2 (S1516G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760118	NM_001363711.2(DUOX2):c.4544T>G (p.Phe1515Cys)	DUOX2 (F1515C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986674	NM_001363711.2(DUOX2):c.4543T>C (p.Phe1515Leu)	DUOX2 (F1515L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1615178	NM_001363711.2(DUOX2):c.4542G>T (p.Val1514=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2904826	NM_001363711.2(DUOX2):c.4536C>T (p.Ile1512=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287167	NM_001363711.2(DUOX2):c.4533G>T (p.Lys1511Asn)	DUOX2 (K1511N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1455168	NM_001363711.2(DUOX2):c.4529G>A (p.Arg1510His)	DUOX2 (R1510H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1972589	NM_001363711.2(DUOX2):c.4528C>G (p.Arg1510Gly)	DUOX2 (R1510G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621765	NM_001363711.2(DUOX2):c.4528C>T (p.Arg1510Cys)	DUOX2 (R1510C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1519132	NM_001363711.2(DUOX2):c.4525-8_4525-6del	DUOX2	Deletion (intron variant)	not provided	GLikely benign
Select item 2982113	NM_001363711.2(DUOX2):c.4525-8C>T	DUOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974989	NM_001363711.2(DUOX2):c.4525-24TC[4]	DUOX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1656884	NM_001363711.2(DUOX2):c.4525-16T>C	DUOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991119	NM_001363711.2(DUOX2):c.4525-18T>G	DUOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225369	NM_001363711.2(DUOX2):c.4524+105A>C	DUOX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2759887	NM_001363711.2(DUOX2):c.4524+11del	DUOX2	Deletion (intron variant)	not provided	GLikely benign
Select item 2765522	NM_001363711.2(DUOX2):c.4524+7C>T	DUOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1454477	NM_001363711.2(DUOX2):c.4524+1dup	DUOX2	Duplication (splice donor variant)	not provided	GPathogenic
Select item 1466218	NM_001363711.2(DUOX2):c.4522C>T (p.Gln1508Ter)	DUOX2 (Q1508*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987282	NM_001363711.2(DUOX2):c.4521del (p.Gln1508fs)	DUOX2 (Q1508fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2884277	NM_001363711.2(DUOX2):c.4516del (p.His1506fs)	DUOX2 (H1506fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1498706	NM_001363711.2(DUOX2):c.4516C>T (p.His1506Tyr)	DUOX2 (H1506Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845975	NM_001363711.2(DUOX2):c.4512G>A (p.Glu1504=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819747	NM_001363711.2(DUOX2):c.4510G>A (p.Glu1504Lys)	DUOX2 (E1504K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 20