Related gene-specific medical variations for Gene (Select 6341) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052297	NM_004589.4(SCO1):c.162C>G (p.Ala54=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	SCO1-related disorder	GLikely benign
Select item 2959324	NM_004589.4(SCO1):c.63C>T (p.Arg21=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647482	NM_004589.4(SCO1):c.43C>T (p.Leu15=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2441998	NM_004589.4(SCO1):c.563-11CT[2]	SCO1	Microsatellite (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 4	GUncertain significance
Select item 2441896	NM_004589.4(SCO1):c.722A>G (p.Tyr241Cys)	SCO1 (Y241C)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4	GUncertain significance
Select item 2435779	NM_004589.4(SCO1):c.555del (p.Asp185fs)	SCO1 (D185fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 4	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 2128471	NM_004589.4(SCO1):c.105G>C (p.Gly35=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125616	NM_004589.4(SCO1):c.20T>A (p.Val7Glu)	LOC112529895, SCO1 (V7E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082632	NM_004589.4(SCO1):c.164C>T (p.Ser55Leu)	LOC112529895, SCO1 (S55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076290	NM_004589.4(SCO1):c.87T>C (p.Phe29=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075675	NM_004589.4(SCO1):c.4G>T (p.Ala2Ser)	LOC112529895, SCO1 (A2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045643	NM_004589.4(SCO1):c.10C>G (p.Leu4Val)	LOC112529895, SCO1 (L4V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +2 more	GUncertain significance
Select item 2026526	NM_004589.4(SCO1):c.75C>A (p.Arg25=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967615	NM_004589.4(SCO1):c.1A>G (p.Met1Val)	LOC112529895, SCO1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899972	NM_004589.4(SCO1):c.54A>G (p.Gln18=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1576766	NM_004589.4(SCO1):c.81C>T (p.Leu27=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467602	NM_004589.4(SCO1):c.172_173delinsTT (p.Pro58Phe)	LOC112529895, SCO1 (P58F)	Indel (missense variant)	not provided	GUncertain significance
Select item 1428351	NM_004589.4(SCO1):c.22C>T (p.Pro8Ser)	LOC112529895, SCO1 (P8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381385	NM_004589.4(SCO1):c.38G>A (p.Arg13Gln)	LOC112529895, SCO1 (R13Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028273	NM_004589.4(SCO1):c.94C>G (p.Pro32Ala)	LOC112529895, SCO1 (P32A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1015976	NM_004589.4(SCO1):c.66C>G (p.Phe22Leu)	LOC112529895, SCO1 (F22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996820	NM_004589.4(SCO1):c.68dup (p.Leu23fs)	LOC112529895, SCO1 (L23fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 890748	NM_004589.4(SCO1):c.2T>C (p.Met1Thr)	LOC112529895, SCO1 (M1T)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GUncertain significance
Select item 890167	NM_004589.4(SCO1):c.16C>T (p.Leu6=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 889504	NM_004589.4(SCO1):c.29G>T (p.Arg10Leu)	LOC112529895, SCO1 (R10L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 889503	NM_004589.4(SCO1):c.33T>C (p.Val11=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	GUncertain significance
Select item 889502	NM_004589.4(SCO1):c.140G>A (p.Arg47Gln)	LOC112529895, SCO1 (R47Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 889501	NM_004589.4(SCO1):c.153G>T (p.Ala51=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	GUncertain significance
Select item 739626	NM_004589.4(SCO1):c.167G>A (p.Gly56Glu)	LOC112529895, SCO1 (G56E)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 592066	NM_004589.4(SCO1):c.442G>T (p.Glu148Ter)	SCO1 (E148*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591720	NM_004589.4(SCO1):c.284G>A (p.Trp95Ter)	SCO1 (W95*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591126	NM_004589.4(SCO1):c.346A>G (p.Lys116Glu)	SCO1 (K116E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440960	NM_004589.4(SCO1):c.5C>A (p.Ala2Glu)	LOC112529895, SCO1 (A2E)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 321799	NM_004589.4(SCO1):c.15C>T (p.Val5=)	LOC112529895, SCO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 287405	NM_004589.4(SCO1):c.170G>C (p.Arg57Pro)	LOC112529895, SCO1 (R57P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215122	NM_004589.4(SCO1):c.104G>A (p.Gly35Glu)	LOC112529895, SCO1 (G35E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215121	NM_004589.4(SCO1):c.61C>G (p.Arg21Gly)	SCO1, LOC112529895 (R21G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 215120	NM_004589.4(SCO1):c.41C>T (p.Pro14Leu)	LOC112529895, SCO1 (P14L)	Single nucleotide variant (missense variant)	SCO1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 215119	NM_004589.4(SCO1):c.26G>T (p.Gly9Val)	LOC112529895, SCO1 (G9V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 139080	NM_004589.4(SCO1):c.172C>T (p.Pro58Ser)	LOC112529895, SCO1 (P58S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 139078	NM_004589.4(SCO1):c.16C>G (p.Leu6Val)	LOC112529895, SCO1 (L6V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 44