"Illumina Laboratory Services, Illumina"[submitter] AND "NDUFS2"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293262	NM_004550.5(NDUFS2):c.-388G>T	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign
Select item 293261	NM_004550.5(NDUFS2):c.-388G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293263	NM_004550.5(NDUFS2):c.-346G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293264	NM_004550.5(NDUFS2):c.-298C>G	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 138488	NM_004550.5(NDUFS2):c.-223C>G	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 293265	NM_004550.5(NDUFS2):c.-218G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293266	NM_004550.5(NDUFS2):c.-159C>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293267	NM_004550.5(NDUFS2):c.-156G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293268	NM_004550.5(NDUFS2):c.-28C>T	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 138489	NM_004550.5(NDUFS2):c.-20C>T	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 293269	NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr)	LOC129931761, NDUFS2 (P20T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 293270	NM_001377299.1(NDUFS2):c.95+14C>T	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293271	NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)	NDUFS2 (G33D)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 734528	NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 293272	NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293273	NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val)	NDUFS2 (I113V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 293274	NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=)	NDUFS2	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 632085	NM_001377299.1(NDUFS2):c.495_496del (p.Arg166fs)	NDUFS2 (R166fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 138483	NM_001377299.1(NDUFS2):c.514+11C>T	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 293275	NM_001377299.1(NDUFS2):c.515-3C>A	NDUFS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214786	NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 138484	NM_001377299.1(NDUFS2):c.628-12C>T	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 293276	NM_001377299.1(NDUFS2):c.702+14_702+17dup	NDUFS2	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 138485	NM_001377299.1(NDUFS2):c.866+8G>A	NDUFS2	Single nucleotide variant (intron variant)	NDUFS2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 293277	NM_001377299.1(NDUFS2):c.867T>C (p.Ser289=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214793	NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr)	NDUFS2 (M292T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 293278	NM_001377299.1(NDUFS2):c.903C>T (p.Asp301=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214794	NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)	NDUFS2 (V320A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214787	NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)	NDUFS2 (R323Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +3 more	GConflicting classifications of pathogenicity
Select item 138486	NM_001377299.1(NDUFS2):c.986+12A>G	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 129697	NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala)	NDUFS2 (P352A)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 214795	NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)	NDUFS2 (H380D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 214796	NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 293279	NM_001377299.1(NDUFS2):c.1212+7A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293280	NM_001377299.1(NDUFS2):c.1213-9del	NDUFS2	Deletion (intron variant)	Mitochondrial complex I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293281	NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 129698	NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 138487	NM_001377299.1(NDUFS2):c.1354+5G>A	NDUFS2	Single nucleotide variant (synonymous variant +2 more)	NDUFS2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 293282	NM_001377299.1(NDUFS2):c.1354+10C>A	NDUFS2 (P455H)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 378254	NM_001377299.1(NDUFS2):c.1355-4C>G	NDUFS2	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 876337	NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr)	NDUFS2 (I456T)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 786725	NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=)	NDUFS2	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 293283	NM_001377299.1(NDUFS2):c.71_76delinsTGCGTCTGTGTGTG	NDUFS2	Indel (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 293285	NM_001377299.1(NDUFS2):c.*78GT[18]	NDUFS2	Microsatellite (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293284	NM_001377299.1(NDUFS2):c.*78GT[16]	NDUFS2	Microsatellite (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293286	NM_001377299.1(NDUFS2):c.*78GT[14]	NDUFS2	Microsatellite (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 293287	NM_001377299.1(NDUFS2):c.108_109dup	NDUFS2	Duplication (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 293288	NM_001377299.1(NDUFS2):c.*108A>T	NDUFS2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 293289	NM_001377299.1(NDUFS2):c.*114A>G	NDUFS2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 293290	NM_001377299.1(NDUFS2):c.*187G>A	NDUFS2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance

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Items: 50