"Ambry Genetics"[submitter] AND "SUOX"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728492	NM_001032386.2(SUOX):c.19G>A (p.Ala7Thr)	SUOX (A7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1002776	NM_001032386.2(SUOX):c.61A>G (p.Ile21Val)	SUOX (I21V)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 2159893	NM_001032386.2(SUOX):c.179C>T (p.Thr60Ile)	SUOX (T60I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1005650	NM_001032386.2(SUOX):c.193G>A (p.Gly65Ser)	SUOX (G65S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 836283	NM_001032386.2(SUOX):c.199G>C (p.Val67Leu)	SUOX (V67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1449504	NM_001032386.2(SUOX):c.220C>T (p.Arg74Trp)	SUOX (R74W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 309833	NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)	SUOX (R76S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1347113	NM_001032386.2(SUOX):c.250A>G (p.Ile84Val)	SUOX (I84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1811837	NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)	SUOX (H118Y)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2319959	NM_001032386.2(SUOX):c.389G>C (p.Gly130Ala)	SUOX (G130A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172132	NM_001032386.2(SUOX):c.391G>A (p.Gly131Ser)	SUOX (G131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412504	NM_001032386.2(SUOX):c.423del (p.Val142fs)	SUOX (V142fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 3323642	NM_001032386.2(SUOX):c.439C>T (p.His147Tyr)	SUOX (H147Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541924	NM_001032386.2(SUOX):c.467A>T (p.Lys156Met)	SUOX (K156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172133	NM_001032386.2(SUOX):c.499G>A (p.Ala167Thr)	SUOX (A167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1000163	NM_001032386.2(SUOX):c.544C>T (p.Arg182Cys)	SUOX (R182C)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 737018	NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp)	SUOX (R192W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1512607	NM_001032386.2(SUOX):c.582T>G (p.Phe194Leu)	SUOX (F194L)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 985679	NM_001032386.2(SUOX):c.649C>T (p.Arg217Trp)	SUOX (R217W)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3172134	NM_001032386.2(SUOX):c.664G>A (p.Val222Ile)	SUOX (V222I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195691	NM_001032386.2(SUOX):c.673C>G (p.Leu225Val)	SUOX (L225V)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +2 more	GUncertain significance
Select item 2045791	NM_001032386.2(SUOX):c.751C>T (p.His251Tyr)	SUOX (H251Y)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 618402	NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)	SUOX (L281fs)	Deletion (frameshift variant)	Sulfocysteinuria +2 more	GPathogenic/Likely pathogenic
Select item 1394925	NM_001032386.2(SUOX):c.946G>A (p.Val316Ile)	SUOX (V316I)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 3172135	NM_001032386.2(SUOX):c.950G>T (p.Cys317Phe)	SUOX (C317F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1043488	NM_001032386.2(SUOX):c.1012C>T (p.Arg338Trp)	SUOX (R338W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1455728	NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys)	SUOX (R366C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1010352	NM_001032386.2(SUOX):c.1162C>A (p.Pro388Thr)	SUOX (P388T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1022885	NM_001032386.2(SUOX):c.1175A>G (p.Tyr392Cys)	SUOX (Y392C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1368583	NM_001032386.2(SUOX):c.1228G>A (p.Glu410Lys)	SUOX (E410K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1047572	NM_001032386.2(SUOX):c.1327G>T (p.Val443Leu)	SUOX (V443L)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 2602520	NM_001032386.2(SUOX):c.1429G>A (p.Gly477Arg)	SUOX (G477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1376193	NM_001032386.2(SUOX):c.1466G>A (p.Arg489His)	SUOX (R489H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3172131	NM_001032386.2(SUOX):c.1486C>T (p.Pro496Ser)	SUOX (P496S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2166471	NM_001032386.2(SUOX):c.1564G>A (p.Val522Met)	SUOX (V522M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 309844	NM_001032386.2(SUOX):c.1586G>A (p.Arg529Gln)	SUOX (R529Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2175757	NM_001032386.2(SUOX):c.1619A>G (p.His540Arg)	SUOX (H540R)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 1007906	NM_001032386.2(SUOX):c.1625A>G (p.Tyr542Cys)	SUOX (Y542C)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance

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Items: 38