"Clinical Genetics, Academic Medical Center"[submitter] AND "DUOX2"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260324	NM_001363711.2(DUOX2):c.3515+15T>A	DUOX2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 316158	NM_001363711.2(DUOX2):c.3050A>G (p.Glu1017Gly)	DUOX2 (E1017G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 316164	NM_001363711.2(DUOX2):c.2544G>C (p.Leu848=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 418789	NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)	DUOX2 (E641K)	Single nucleotide variant (missense variant)	DUOX2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 260315	NM_001363711.2(DUOX2):c.1461G>C (p.Gly487=)	DUOX2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 260328	NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg)	DUOX2 (P303R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 279800	NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)	DUOX2 (Q202fs)	Duplication (frameshift variant)	DUOX2-related disorder +3 more	GPathogenic/Likely pathogenic
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 733640	NM_001363711.2(DUOX2):c.597G>C (p.Ser199=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GConflicting classifications of pathogenicity
Select item 316182	NM_001363711.2(DUOX2):c.567C>T (p.His189=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +2 more	GConflicting classifications of pathogenicity
Select item 260326	NM_001363711.2(DUOX2):c.413C>T (p.Pro138Leu)	DUOX2 (P138L)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6 +2 more	GBenign
Select item 773048	NM_001363711.2(DUOX2):c.303C>A (p.Arg101=)	DUOX2	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 6 +1 more	GBenign/Likely benign