"GeneDx"[submitter] AND "LOC112529895"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139080	NM_004589.4(SCO1):c.172C>T (p.Pro58Ser)	SCO1, LOC112529895 (P58S)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +4 more	GBenign/Likely benign
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)	not provided	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 139078	NM_004589.4(SCO1):c.16C>G (p.Leu6Val)	LOC112529895, SCO1 (L6V)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 440960	NM_004589.4(SCO1):c.5C>A (p.Ala2Glu)	SCO1, LOC112529895 (A2E)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 506782	NM_004589.3(SCO1):c.-39T>C	LOC112529895, SCO1	Single nucleotide variant	not specified	GLikely benign
Select item 369144	NC_000017.11:g.10697578C>A	SCO1, LOC112529895	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 1237522	NC_000017.11:g.10697598G>A	ADPRM, LOC112529895 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1240455	NC_000017.11:g.10697654G>A	ADPRM, LOC112529895 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1213105	NC_000017.11:g.10697719T>G	ADPRM, LOC112529895 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272930	NC_000017.11:g.10697743G>C	ADPRM, LOC112529895 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223633	NC_000017.11:g.10697803C>T	LOC112529895, ADPRM +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258787	NC_000017.11:g.10697816_10697817insG	LOC112529895, SCO1 +1 more	Insertion (intron variant)	not provided	GBenign