"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DUOX2"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 884961	NM_001363711.2(DUOX2):c.4474C>T (p.Arg1492Cys)	DUOX2 (R1492C)	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 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 1468236	NM_001363711.2(DUOX2):c.3967G>A (p.Ala1323Thr)	DUOX2 (A1323T)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 1303181	NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His)	DUOX2 (R1211H)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 431903	NM_001363711.2(DUOX2):c.3383G>A (p.Arg1128His)	DUOX2 (R1128H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 1324302	NM_001363711.2(DUOX2):c.3006-2A>G	DUOX2	Single nucleotide variant (splice acceptor variant)	Thyroid dyshormonogenesis 6 +1 more	GLikely pathogenic
Select item 1400637	NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His)	DUOX2 (R974H)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 649026	NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter)	DUOX2 (E889*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1458737	NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln)	DUOX2 (R885Q)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GPathogenic/Likely pathogenic
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 1071547	NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter)	DUOX2 (R701*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 418789	NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)	DUOX2 (E641K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 287079	NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter)	DUOX2 (K530*)	Single nucleotide variant (nonsense)	Thyroid dyshormonogenesis 6 +1 more	GPathogenic
Select item 225342	NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)	DUOX2 (G488R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +4 more	GPathogenic/Likely pathogenic
Select item 719083	NM_001363711.2(DUOX2):c.1428C>A (p.Asn476Lys)	DUOX2 (N476K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 886073	NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp)	DUOX2 (A472D)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +2 more	GUncertain significance
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 712164	NM_001363711.2(DUOX2):c.700C>T (p.Pro234Ser)	DUOX2 (P234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
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 279800	NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)	DUOX2 (Q202fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 316184	NM_001363711.2(DUOX2):c.533G>T (p.Trp178Leu)	DUOX2 (W178L)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GUncertain significance
Select item 1517265	NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp)	DUOX2 (R169W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 25