"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129935473" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894949	NM_005006.7(NDUFS1):c.-31A>G	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 894950	NM_005006.7(NDUFS1):c.-38T>G	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333790	NM_005006.7(NDUFS1):c.-47C>G	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 896384	NM_005006.7(NDUFS1):c.-61G>C	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 896385	NM_005006.7(NDUFS1):c.-64T>C	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 896386	NM_005006.7(NDUFS1):c.-73C>A	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 896387	NM_005006.7(NDUFS1):c.-75A>G	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 898014	NM_005006.7(NDUFS1):c.-76G>A	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 898015	NM_005006.7(NDUFS1):c.-101G>A	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 898016	NM_005006.6(NDUFS1):c.-149T>G	LOC129935473, NDUFS1	Single nucleotide variant	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance