ClinVar for MedGen (Select 78695) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244255	NC_000012.11:g.(?_56396006)_(56398811_?)del	SUOX	Deletion	Sulfite oxidase deficiency	GPathogenic
Select item 3024002	NM_001032386.2(SUOX):c.1566G>A (p.Val522=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3022862	NM_001032386.2(SUOX):c.246A>C (p.Thr82=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3022274	NM_001032386.2(SUOX):c.159G>A (p.Gln53=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3018619	NM_001032386.2(SUOX):c.363G>C (p.Gly121=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3017723	NM_001032386.2(SUOX):c.456G>A (p.Leu152=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3016658	NM_001032386.2(SUOX):c.1533G>A (p.Val511=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3016395	NM_001032386.2(SUOX):c.51-15C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3015506	NM_001032386.2(SUOX):c.1512G>C (p.Leu504=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3012958	NM_001032386.2(SUOX):c.302G>A (p.Trp101Ter)	SUOX (W101*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 3012121	NM_001032386.2(SUOX):c.153C>T (p.Ser51=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3011404	NM_001032386.2(SUOX):c.951C>T (p.Cys317=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3010032	NM_001032386.2(SUOX):c.1305A>G (p.Gly435=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3007924	NM_001032386.2(SUOX):c.229-11C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3005999	NM_001032386.2(SUOX):c.501C>T (p.Ala167=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2999860	NM_001032386.2(SUOX):c.1593T>G (p.Val531=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2993877	NM_001032386.2(SUOX):c.1017C>T (p.Ala339=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2990311	NM_001032386.2(SUOX):c.507C>G (p.Thr169=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2983639	NM_001032386.2(SUOX):c.672C>T (p.Asn224=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2980074	NM_001032386.2(SUOX):c.507C>A (p.Thr169=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2954662	NM_001032386.2(SUOX):c.1344T>C (p.Tyr448=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2920186	NM_001032386.2(SUOX):c.748T>C (p.Leu250=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2919399	NM_001032386.2(SUOX):c.460C>T (p.Gln154Ter)	SUOX (Q154*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 2916299	NM_001032386.2(SUOX):c.270G>A (p.Val90=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2915227	NM_001032386.2(SUOX):c.39A>G (p.Gln13=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2902496	NM_001032386.2(SUOX):c.87C>G (p.Ala29=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2899145	NM_001032386.2(SUOX):c.651G>A (p.Arg217=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2894887	NM_001032386.2(SUOX):c.255C>T (p.Tyr85=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2890893	NM_001032386.2(SUOX):c.972C>T (p.Asp324=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2889696	NM_001032386.2(SUOX):c.903G>A (p.Val301=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2887322	NM_001032386.2(SUOX):c.478C>T (p.Leu160=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2884474	NM_001032386.2(SUOX):c.1368T>C (p.Ala456=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2876914	NM_001032386.2(SUOX):c.658C>T (p.Leu220=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2873245	NM_001032386.2(SUOX):c.229-13T>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2869986	NM_001032386.2(SUOX):c.599del (p.Pro200fs)	SUOX (P200fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2869330	NM_001032386.2(SUOX):c.72G>A (p.Arg24=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2866045	NM_001032386.2(SUOX):c.229-5A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2865345	NM_001032386.2(SUOX):c.556C>T (p.Leu186=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2863413	NM_001032386.2(SUOX):c.1552C>T (p.Gln518Ter)	SUOX (Q518*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 2862437	NM_001032386.2(SUOX):c.242_243insTT (p.Ser81_Thr82insTer)	SUOX	Insertion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2858572	NM_001032386.2(SUOX):c.1047A>G (p.Ala349=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2858449	NM_001032386.2(SUOX):c.719del (p.Gly240fs)	SUOX (G240fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2855541	NM_001032386.2(SUOX):c.642C>T (p.Phe214=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2850445	NM_001032386.2(SUOX):c.87C>T (p.Ala29=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2849890	NM_001032386.2(SUOX):c.1320_1321del (p.Glu442fs)	SUOX (E442fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2848218	NM_001032386.2(SUOX):c.1411del (p.Gln471fs)	SUOX (Q471fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2846388	NM_001032386.2(SUOX):c.397C>T (p.Leu133=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2845151	NM_001032386.2(SUOX):c.660G>C (p.Leu220=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2844360	NM_001032386.2(SUOX):c.1173T>C (p.Ser391=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2840154	NM_001032386.2(SUOX):c.49dup (p.Arg17fs)	SUOX (R17fs)	Duplication (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2837935	NM_001032386.2(SUOX):c.1494A>C (p.Pro498=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2836845	NM_001032386.2(SUOX):c.433del (p.Gln145fs)	SUOX (Q145fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2833625	NM_001032386.2(SUOX):c.417C>A (p.Leu139=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2831870	NM_001032386.2(SUOX):c.1377G>A (p.Arg459=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2830006	NM_001032386.2(SUOX):c.417C>G (p.Leu139=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2827199	NM_001032386.2(SUOX):c.51-17A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2826522	NM_001032386.2(SUOX):c.379C>T (p.Leu127=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2826517	NM_001032386.2(SUOX):c.1379dup (p.Asp461fs)	SUOX (D461fs)	Duplication (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2825418	NM_001032386.2(SUOX):c.414C>T (p.Ala138=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2824409	NM_001032386.2(SUOX):c.37C>T (p.Gln13Ter)	SUOX (Q13*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 2820859	NM_001032386.2(SUOX):c.42G>A (p.Gln14=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2819207	NM_001032386.2(SUOX):c.738C>T (p.Ser246=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2817463	NM_001032386.2(SUOX):c.1406_1421del (p.Thr469fs)	SUOX (T469fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2816697	NM_001032386.2(SUOX):c.1461A>T (p.Ala487=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2808695	NM_001032386.2(SUOX):c.1623C>T (p.Val541=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2807969	NM_001032386.2(SUOX):c.711A>C (p.Ala237=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2806169	NM_001032386.2(SUOX):c.162A>T (p.Gly54=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2803653	NM_001032386.2(SUOX):c.51-14G>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2801200	NM_001032386.2(SUOX):c.81T>C (p.Ile27=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2797628	NM_001032386.2(SUOX):c.228+13A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2797381	NM_001032386.2(SUOX):c.948C>G (p.Val316=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2797355	NM_001032386.2(SUOX):c.228+16G>A	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2795201	NM_001032386.2(SUOX):c.1314A>G (p.Val438=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2794068	NM_001032386.2(SUOX):c.240G>A (p.Glu80=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2791205	NM_001032386.2(SUOX):c.1134C>A (p.Val378=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2791052	NM_001032386.2(SUOX):c.50+15C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2788389	NM_001032386.2(SUOX):c.119_126del (p.Arg40fs)	SUOX (R40fs)	Microsatellite (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2783779	NM_001032386.2(SUOX):c.1290A>G (p.Thr430=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2783390	NM_001032386.2(SUOX):c.1049_1052del (p.Ala349_Tyr350insTer)	SUOX	Deletion (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 2783170	NM_001032386.2(SUOX):c.228+12A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2782632	NM_001032386.2(SUOX):c.249C>T (p.His83=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2782372	NM_001032386.2(SUOX):c.229-14T>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2782088	NM_001032386.2(SUOX):c.903G>C (p.Val301=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2779836	NM_001032386.2(SUOX):c.1218T>C (p.Ser406=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2779253	NM_001032386.2(SUOX):c.1121del (p.Gly374fs)	SUOX (G374fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2776739	NM_001032386.2(SUOX):c.1563C>A (p.Thr521=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2772322	NM_001032386.2(SUOX):c.739C>T (p.Leu247=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2771542	NM_001032386.2(SUOX):c.1545C>G (p.Tyr515Ter)	SUOX (Y515*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 2769383	NM_001032386.2(SUOX):c.1014G>A (p.Arg338=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2769185	NM_001032386.2(SUOX):c.1407C>G (p.Thr469=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2767938	NM_001032386.2(SUOX):c.162A>G (p.Gly54=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2767738	NM_001032386.2(SUOX):c.1290A>C (p.Thr430=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2763256	NM_001032386.2(SUOX):c.1464G>A (p.Trp488Ter)	SUOX (W488*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 2760559	NM_001032386.2(SUOX):c.1578G>A (p.Trp526Ter)	SUOX (W526*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 2759832	NM_001032386.2(SUOX):c.1224C>T (p.Asp408=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2759091	NM_001032386.2(SUOX):c.795C>G (p.Ala265=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2758785	NM_001032386.2(SUOX):c.216C>T (p.Asp72=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2758733	NM_001032386.2(SUOX):c.870T>C (p.Thr290=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2757487	NM_001032386.2(SUOX):c.369A>G (p.Ser123=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2756898	NM_001032386.2(SUOX):c.492C>T (p.Asp164=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign

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