ClinVar for MedGen (Select 375935) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689071	NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)	DUOX2 (Q570*)	Single nucleotide variant (nonsense)	Thyroid dyshormonogenesis 6 +1 more	GPathogenic
Select item 2688980	NM_001363711.2(DUOX2):c.2110C>T (p.Arg704Cys)	DUOX2 (R704C)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 2664832	NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)	DUOX2 (N43Y)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 2664829	NM_001363711.2(DUOX2):c.4240A>T (p.Ile1414Phe)	DUOX2 (I1414F)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 2664716	NM_001363711.2(DUOX2):c.871G>A (p.Ala291Thr)	DUOX2 (A291T)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 2627960	NM_001363711.2(DUOX2):c.3521A>G (p.Lys1174Arg)	DUOX2 (K1174R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 2627482	NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter)	DUOX2 (Q153*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2581533	NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter)	DUOX2 (E810*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2441049	NM_001363711.2(DUOX2):c.4326G>A (p.Gln1442=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 2441048	NM_001363711.2(DUOX2):c.2579C>A (p.Ser860Tyr)	DUOX2 (S860Y)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 2441047	NM_001363711.2(DUOX2):c.4060G>A (p.Gly1354Ser)	DUOX2 (G1354S)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 2441046	NM_001363711.2(DUOX2):c.3240C>T (p.Ile1080=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 2416829	NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln)	DUOX2 (R169Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2195461	NM_001363711.2(DUOX2):c.4097C>T (p.Pro1366Leu)	DUOX2 (P1366L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1956595	NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)	DUOX2 (V1045fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1898296	NM_001363711.2(DUOX2):c.1131G>A (p.Glu377=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 1803237	NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs)	DUOX2 (G494fs)	Duplication (frameshift variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 1705282	NM_001363711.2(DUOX2):c.1264C>T (p.Arg422Cys)	DUOX2 (R422C)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 1705281	NM_001363711.2(DUOX2):c.715G>A (p.Ala239Thr)	DUOX2 (A239T)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 1687541	NM_001363711.2(DUOX2):c.3251G>A (p.Arg1084Gln)	DUOX2 (R1084Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1687512	NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs)	DUOX2 (V1090fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 1687376	NM_001363711.2(DUOX2):c.425C>G (p.Pro142Arg)	DUOX2 (P142R)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 1687299	NM_001363711.2(DUOX2):c.790del (p.Leu264fs)	DUOX2 (L264fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 6	GPathogenic
Select item 1687179	NM_001363711.2(DUOX2):c.1552T>A (p.Trp518Arg)	DUOX2 (W518R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
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 1551268	NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile)	DUOX2 (T423I)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 1520364	NM_001363711.2(DUOX2):c.3175C>T (p.Arg1059Cys)	DUOX2 (R1059C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1517265	NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp)	DUOX2 (R169W)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 1474079	NM_001363711.2(DUOX2):c.1435C>G (p.Leu479Val)	DUOX2 (L479V)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 1470003	NM_001363711.2(DUOX2):c.4396T>G (p.Tyr1466Asp)	DUOX2 (Y1466D)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 1468236	NM_001363711.2(DUOX2):c.3967G>A (p.Ala1323Thr)	DUOX2 (A1323T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1458737	NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln)	DUOX2 (R885Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1457928	NM_001363711.2(DUOX2):c.2335-1G>C	DUOX2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1456312	NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter)	DUOX2 (R625*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1432063	NM_001363711.2(DUOX2):c.1265G>A (p.Arg422His)	DUOX2 (R422H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1400637	NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His)	DUOX2 (R974H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339735	NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp)	DUOX2 (R354W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1339190	NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter)	DUOX2 (Y1011*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324306	NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys)	DUOX2 (E879K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324304	NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter)	DUOX2 (Y1229*)	Single nucleotide variant (nonsense)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 1324302	NM_001363711.2(DUOX2):c.3006-2A>G	DUOX2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1324301	NM_001363711.2(DUOX2):c.618del (p.Asp208fs)	DUOX2 (D208fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 1322790	NM_001363711.2(DUOX2):c.2000del (p.Leu667fs)	DUOX2 (L667fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1322789	NM_001363711.2(DUOX2):c.2921+2T>C	DUOX2	Single nucleotide variant (splice donor variant)	Thyroid dyshormonogenesis 6	GPathogenic
Select item 1303181	NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His)	DUOX2 (R1211H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301703	NM_001363711.2(DUOX2):c.144C>A (p.His48Gln)	DUOX2 (H48Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160789	NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)	DUOX2 (Q570L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1071547	NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter)	DUOX2 (R701*)	Single nucleotide variant (nonsense)	Thyroid dyshormonogenesis 6 +1 more	GPathogenic
Select item 1065943	NM_001363711.2(DUOX2):c.3693+1G>T	DUOX2	Single nucleotide variant (splice donor variant)	Thyroid dyshormonogenesis 6 +1 more	GLikely pathogenic
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 1027400	NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs)	DUOX2 (Q202fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 6 +1 more	GPathogenic/Likely pathogenic
Select item 984928	NM_001363711.2(DUOX2):c.4081-1G>A	DUOX2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 932342	NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter)	DUOX2 (R1110*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 917856	NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn)	DUOX2 (K1360N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 915463	NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly)	DUOX2 (V330G)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 915462	NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala)	DUOX2 (G437A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 915459	NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp)	DUOX2 (R1039W)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 888413	NM_001363711.2(DUOX2):c.-14-6C>T	DUOX2	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888412	NM_001363711.2(DUOX2):c.70+2C>G	DUOX2	Single nucleotide variant (synonymous variant +1 more)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888411	NM_001363711.2(DUOX2):c.70+15C>A	DUOX2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888352	NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg)	DUOX2 (G200R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 888351	NM_001363711.2(DUOX2):c.841C>T (p.Leu281=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 888275	NM_001363711.2(DUOX2):c.1949T>C (p.Met650Thr)	DUOX2 (M650T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888274	NM_001363711.2(DUOX2):c.2176C>T (p.Arg726Trp)	DUOX2 (R726W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888209	NM_001363711.2(DUOX2):c.2806C>T (p.Arg936Cys)	DUOX2 (R936C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888208	NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln)	DUOX2 (R969Q)	Single nucleotide variant (missense variant)	DUOX2-related disorder +2 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 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 888149	NM_001363711.2(DUOX2):c.3807G>T (p.Lys1269Asn)	DUOX2 (K1269N)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
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 888095	NM_001363711.2(DUOX2):c.*72T>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 888015	NM_001363711.2(DUOX2):c.*1428G>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 888013	NM_001363711.2(DUOX2):c.*1438G>A	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 887155	NM_001363711.2(DUOX2):c.160G>T (p.Gly54Cys)	DUOX2 (G54C)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 887154	NM_001363711.2(DUOX2):c.160+5G>T	DUOX2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 887153	NM_001363711.2(DUOX2):c.163T>C (p.Cys55Arg)	DUOX2 (C55R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 887152	NM_001363711.2(DUOX2):c.252C>G (p.Leu84=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 887151	NM_001363711.2(DUOX2):c.299A>G (p.Asn100Ser)	DUOX2 (N100S)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 887081	NM_001363711.2(DUOX2):c.883-13C>G	DUOX2	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 887080	NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro)	DUOX2 (L320P)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 887079	NM_001363711.2(DUOX2):c.1027G>A (p.Gly343Ser)	DUOX2 (G343S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887078	NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys)	DUOX2 (Q397K)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +2 more	GConflicting classifications of pathogenicity
Select item 887010	NM_001363711.2(DUOX2):c.2313C>G (p.Phe771Leu)	DUOX2 (F771L)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 887009	NM_001363711.2(DUOX2):c.2334+4C>A	DUOX2	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 6	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 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 886870	NM_001363711.2(DUOX2):c.3906G>C (p.Trp1302Cys)	DUOX2 (W1302C)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
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 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 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 886820	NM_001363711.2(DUOX2):c.*344A>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 886818	NM_001363711.2(DUOX2):c.*405T>G	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 886816	NM_001363711.2(DUOX2):c.*418T>C	DUOX2	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 6	GUncertain significance
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 886139	NM_001363711.2(DUOX2):c.317T>C (p.Val106Ala)	DUOX2 (V106A)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 886073	NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp)	DUOX2 (A472D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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