ClinVar for MedGen (Select 1748100) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1687682	NM_004589.4(SCO1):c.271G>A (p.Gly91Arg)	SCO1 (G91R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1631502	NM_004589.4(SCO1):c.656-20C>G	SCO1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +1 more	GLikely benign
Select item 1470988	NM_004589.4(SCO1):c.445C>T (p.Arg149Cys)	SCO1 (R149C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1349711	NM_004589.4(SCO1):c.203G>A (p.Ser68Asn)	SCO1 (S68N)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +1 more	GUncertain significance
Select item 1331157	NM_004589.4(SCO1):c.242C>G (p.Pro81Arg)	SCO1 (P81R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028273	NM_004589.4(SCO1):c.94C>G (p.Pro32Ala)	LOC112529895, SCO1 (P32A)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 889502	NM_004589.4(SCO1):c.140G>A (p.Arg47Gln)	LOC112529895, SCO1 (R47Q)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 811095	NM_004589.4(SCO1):c.881T>A (p.Met294Lys)	SCO1 (M294K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 741449	NM_004589.4(SCO1):c.744C>T (p.Gly248=)	SCO1	Single nucleotide variant (synonymous variant)	SCO1-related condition +2 more	GLikely benign
Select item 418798	NM_004589.4(SCO1):c.261del (p.Ser88fs)	SCO1 (S88fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +1 more	GPathogenic/Likely pathogenic
Select item 390411	NM_004589.4(SCO1):c.702C>T (p.Val234=)	SCO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 321797	NM_004589.4(SCO1):c.259C>T (p.Pro87Ser)	SCO1 (P87S)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +3 more	GUncertain significance
Select item 321795	NM_004589.4(SCO1):c.304T>G (p.Phe102Val)	SCO1 (F102V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +2 more	GUncertain significance
Select item 321791	NM_004589.4(SCO1):c.868A>G (p.Ile290Val)	SCO1 (I290V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +3 more	GConflicting classifications of pathogenicity
Select item 215125	NM_004589.4(SCO1):c.430A>G (p.Thr144Ala)	SCO1 (T144A)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +1 more	GUncertain significance
Select item 215123	NM_004589.4(SCO1):c.787A>G (p.Ile263Val)	SCO1 (I263V)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 215117	NM_004589.4(SCO1):c.753C>T (p.Asp251=)	SCO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +3 more	GBenign/Likely benign
Select item 139080	NM_004589.4(SCO1):c.172C>T (p.Pro58Ser)	SCO1, LOC112529895 (P58S)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +4 more	GBenign/Likely benign
Select item 139077	NM_004589.4(SCO1):c.297A>G (p.Ala99=)	SCO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +4 more	GBenign/Likely benign
Select item 120177	NM_004589.4(SCO1):c.394G>A (p.Gly132Ser)	SCO1 (G132S)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4	GPathogenic
Select item 6178	NM_004589.4(SCO1):c.521C>T (p.Pro174Leu)	SCO1 (P174L)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 4 +1 more	GPathogenic/Likely pathogenic
Select item 6177	NM_004589.4(SCO1):c.364_364+1del	SCO1	Microsatellite (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 26