"Ambry Genetics"[submitter] AND "SP3"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2339266	NM_003111.5(SP3):c.2338A>G (p.Met780Val)	SP3 (M712V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492266	NM_003111.5(SP3):c.2282T>C (p.Ile761Thr)	SP3 (I761T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400883	NM_003111.5(SP3):c.2263G>A (p.Ala755Thr)	SP3 (A755T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2222515	NM_003111.5(SP3):c.2240G>A (p.Gly747Glu)	SP3 (G747E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167904	NM_003111.5(SP3):c.2226A>C (p.Gln742His)	SP3 (Q674H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278403	NM_003111.5(SP3):c.2188G>T (p.Ala730Ser)	SP3 (A662S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167902	NM_003111.5(SP3):c.2099T>C (p.Ile700Thr)	SP3 (I700T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167901	NM_003111.5(SP3):c.1774G>A (p.Gly592Arg)	SP3 (G524R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557979	NM_003111.5(SP3):c.1772A>G (p.Glu591Gly)	SP3 (E588G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167900	NM_003111.5(SP3):c.1683G>C (p.Gln561His)	SP3 (Q558H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610603	NM_003111.5(SP3):c.1585A>C (p.Ile529Leu)	SP3 (I526L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278373	NM_003111.5(SP3):c.1585A>G (p.Ile529Val)	SP3 (I461V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545648	NM_003111.5(SP3):c.1492G>C (p.Gly498Arg)	SP3 (G498R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475737	NM_003111.5(SP3):c.1444A>G (p.Thr482Ala)	SP3 (T479A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321703	NM_003111.5(SP3):c.1436T>C (p.Ile479Thr)	SP3 (I411T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321705	NM_003111.5(SP3):c.1331A>G (p.Asn444Ser)	SP3 (N441S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220751	NM_003111.5(SP3):c.1261A>G (p.Ile421Val)	SP3 (I421V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616562	NM_003111.5(SP3):c.1121A>G (p.Gln374Arg)	SP3 (Q306R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242733	NM_003111.5(SP3):c.1094C>T (p.Ser365Phe)	SP3 (S297F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231253	NM_003111.5(SP3):c.1065C>G (p.Ser355Arg)	SP3 (S352R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601935	NM_003111.5(SP3):c.1029A>G (p.Ile343Met)	SP3 (I340M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591790	NM_003111.5(SP3):c.1025C>G (p.Thr342Arg)	SP3 (T274R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321706	NM_003111.5(SP3):c.962A>G (p.Asn321Ser)	SP3 (N253S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330020	NM_003111.5(SP3):c.911A>G (p.Asp304Gly)	SP3 (D301G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388569	NM_003111.5(SP3):c.880G>A (p.Gly294Arg)	SP3 (G226R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402419	NM_003111.5(SP3):c.743G>C (p.Gly248Ala)	SP3 (G180A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167910	NM_003111.5(SP3):c.698A>G (p.Gln233Arg)	SP3 (Q165R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383655	NM_003111.5(SP3):c.631A>C (p.Asn211His)	SP3 (N143H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525416	NM_003111.5(SP3):c.605G>A (p.Ser202Asn)	SP3 (S202N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266900	NM_003111.5(SP3):c.494T>A (p.Val165Glu)	SP3 (V162E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377134	NM_003111.5(SP3):c.460G>A (p.Val154Ile)	SP3 (V154I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262975	NM_003111.5(SP3):c.413A>C (p.Gln138Pro)	SP3 (Q138P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167909	NM_003111.5(SP3):c.346C>G (p.Pro116Ala)	SP3 (P113A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305061	NM_003111.5(SP3):c.344C>T (p.Thr115Ile)	SP3 (T112I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167908	NM_003111.5(SP3):c.343A>G (p.Thr115Ala)	SP3 (T112A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271386	NM_003111.5(SP3):c.316C>T (p.Pro106Ser)	SP3 (P106S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278210	NM_003111.5(SP3):c.314C>G (p.Ala105Gly)	SP3 (A37G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167906	NM_003111.5(SP3):c.269C>T (p.Ala90Val)	SP3 (A87V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275223	NM_003111.5(SP3):c.265G>T (p.Ala89Ser)	SP3 (A21S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167905	NM_003111.5(SP3):c.257G>T (p.Gly86Val)	SP3 (G18V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321702	NM_003111.5(SP3):c.157G>C (p.Asp53His)	SP3 (D53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 41