"3billion"[submitter] AND "DUOX2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 420157	NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln)	DUOX2 (R1110Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1687512	NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs)	DUOX2 (V1090fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
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 617814	NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu)	DUOX2 (A649E)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
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 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 1687299	NM_001363711.2(DUOX2):c.790del (p.Leu264fs)	DUOX2 (L264fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 6	GPathogenic
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