"Ambry Genetics"[submitter] AND "SCO1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 811095	NM_004589.4(SCO1):c.881T>A (p.Met294Lys)	SCO1 (M294K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2244554	NM_004589.4(SCO1):c.848A>G (p.Lys283Arg)	SCO1 (K283R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316662	NM_004589.4(SCO1):c.840C>G (p.Asn280Lys)	SCO1 (N280K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556511	NM_004589.4(SCO1):c.824A>G (p.Asp275Gly)	SCO1 (D275G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545273	NM_004589.4(SCO1):c.806C>T (p.Pro269Leu)	SCO1 (P269L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158628	NM_004589.4(SCO1):c.748A>G (p.Lys250Glu)	SCO1 (K250E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2081810	NM_004589.4(SCO1):c.740C>T (p.Pro247Leu)	SCO1 (P247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 321794	NM_004589.4(SCO1):c.640G>A (p.Ala214Thr)	SCO1 (A214T)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 3316661	NM_004589.4(SCO1):c.616G>A (p.Glu206Lys)	SCO1 (E206K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316663	NM_004589.4(SCO1):c.514G>A (p.Val172Ile)	SCO1 (V172I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2388356	NM_004589.4(SCO1):c.512A>C (p.Asp171Ala)	SCO1 (D171A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1470988	NM_004589.4(SCO1):c.445C>T (p.Arg149Cys)	SCO1 (R149C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2350740	NM_004589.4(SCO1):c.380G>A (p.Arg127Gln)	SCO1 (R127Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291539	NM_004589.4(SCO1):c.344T>G (p.Val115Gly)	SCO1 (V115G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1982779	NM_004589.4(SCO1):c.307G>A (p.Ala103Thr)	SCO1 (A103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3158627	NM_004589.4(SCO1):c.269C>G (p.Pro90Arg)	SCO1 (P90R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331157	NM_004589.4(SCO1):c.242C>G (p.Pro81Arg)	SCO1 (P81R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2588929	NM_004589.4(SCO1):c.223C>T (p.Pro75Ser)	SCO1 (P75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240612	NM_004589.4(SCO1):c.205A>G (p.Thr69Ala)	SCO1 (T69A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316660	NM_004589.4(SCO1):c.197C>T (p.Pro66Leu)	SCO1 (P66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233257	NM_004589.4(SCO1):c.31G>A (p.Val11Ile)	SCO1, LOC112529895 (V11I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230204	NM_004589.4(SCO1):c.28C>G (p.Arg10Gly)	LOC112529895, SCO1 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 215119	NM_004589.4(SCO1):c.26G>T (p.Gly9Val)	SCO1, LOC112529895 (G9V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2542718	NM_004589.4(SCO1):c.13G>A (p.Val5Ile)	LOC112529895, SCO1 (V5I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045643	NM_004589.4(SCO1):c.10C>G (p.Leu4Val)	LOC112529895, SCO1 (L4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 890748	NM_004589.4(SCO1):c.2T>C (p.Met1Thr)	LOC112529895, SCO1 (M1T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance

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Items: 26