Related gene-specific medical variations for Gene (Select 50506) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382601	NM_001363711.2(DUOX2):c.596del (p.Ser199fs)	DUOX2 (S199fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 6	GPathogenic
Select item 3382141	NM_001363711.2(DUOX2):c.3646dup (p.Arg1216fs)	DUOX2 (R1216fs)	Duplication (frameshift variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 3382065	NM_001363711.2(DUOX2):c.514-2A>G	DUOX2	Single nucleotide variant (splice acceptor variant)	Thyroid dyshormonogenesis 6	GPathogenic
Select item 3243885	NC_000015.9:g.(?_45386348)_(45402928_?)del	DUOX2	Deletion	not provided	GPathogenic
Select item 3243884	NC_000015.9:g.(?_45386348)_(45390276_?)del	DUOX2	Deletion	not provided	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 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 1679585	NM_001363711.2(DUOX2):c.4634A>G (p.Tyr1545Cys)	DUOX2 (Y1545C)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 6	GUncertain significance
Select item 1325508	NM_001363711.2(DUOX2):c.3596T>C (p.Leu1199Pro)	DUOX2 (L1199P)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
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 1324301	NM_001363711.2(DUOX2):c.618del (p.Asp208fs)	DUOX2 (D208fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 6	GLikely pathogenic
Select item 1322789	NM_001363711.2(DUOX2):c.2921+2T>C	DUOX2	Single nucleotide variant (splice donor variant)	Thyroid dyshormonogenesis 6	GPathogenic
Select item 987282	NM_001363711.2(DUOX2):c.4521del (p.Gln1508fs)	DUOX2 (Q1508fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic