"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "DUOX2"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 451202	NM_001363711.2(DUOX2):c.3968C>T (p.Ala1323Val)	DUOX2 (A1323V)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 189229	NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	DUOX2 (F966fs)	Deletion (frameshift variant)	Familial thyroid dyshormonogenesis +4 more	GPathogenic/Likely pathogenic
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 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 2627482	NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter)	DUOX2 (Q153*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic