"GeneDx"[submitter] AND "NDUFA2"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 214710	NM_002488.5(NDUFA2):c.280G>A (p.Val94Ile)	NDUFA2, TMCO6 (V94I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 138444	NM_002488.5(NDUFA2):c.231C>T (p.Val77=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 214712	NM_002488.5(NDUFA2):c.225del (p.Asn76fs)	NDUFA2, TMCO6 (N76fs)	Deletion (3 prime UTR variant +2 more)	Cystic Leukoencephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 509200	NM_002488.5(NDUFA2):c.209-28T>C	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 682691	NM_002488.5(NDUFA2):c.209-221C>T	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248967	NM_002488.5(NDUFA2):c.209-332del	NDUFA2, TMCO6	Deletion (intron variant)	not provided	GBenign
Select item 1175505	NM_002488.5(NDUFA2):c.209-333_209-332del	NDUFA2, TMCO6	Deletion (intron variant)	not provided	GLikely benign
Select item 1213602	NM_002488.5(NDUFA2):c.209-355G>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204085	NM_002488.5(NDUFA2):c.209-364C>T	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669900	NM_002488.5(NDUFA2):c.208+314T>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291320	NM_002488.5(NDUFA2):c.208+18G>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373817	NM_002488.5(NDUFA2):c.199del (p.Ala67fs)	NDUFA2, TMCO6 (A67fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 138446	NM_002488.5(NDUFA2):c.129G>A (p.Glu43=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 380652	NM_002488.5(NDUFA2):c.102-11C>G	NDUFA2, TMCO6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1205285	NM_002488.5(NDUFA2):c.101+27G>A	NDUFA2, TMCO6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 138445	NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val)	NDUFA2, TMCO6 (L14V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 384585	NM_002488.5(NDUFA2):c.30C>T (p.Val10=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1203505	NM_002488.5(NDUFA2):c.28G>A (p.Val10Ile)	NDUFA2, TMCO6 (V10I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378136	NM_002488.5(NDUFA2):c.25G>A (p.Gly9Arg)	NDUFA2, TMCO6 (G9R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 351226	NM_002488.4(NDUFA2):c.-48A>G	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 351227	NM_002488.4(NDUFA2):c.-50G>A	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 675849	NM_002488.4(NDUFA2):c.-106delG	NDUFA2, TMCO6	Deletion (genic downstream transcript variant)	not provided	GLikely benign
Select item 351231	NM_002488.4(NDUFA2):c.-136A>G	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 1205148	NC_000005.10:g.140647863C>T	IK, MIR3655 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1190646	NC_000005.10:g.140647898A>T	IK, MIR3655 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1278866	NC_000005.10:g.140648008GT[21]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1237583	NC_000005.10:g.140648008GT[20]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1258536	NC_000005.10:g.140648008GT[15]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1194344	NC_000005.10:g.140648008GT[18]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1179860	NC_000005.10:g.140648038_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1196823	NC_000005.10:g.140648040_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1246468	NC_000005.10:g.140648042_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GBenign
Select item 1226911	NC_000005.10:g.140648044_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GBenign
Select item 1218119	NC_000005.10:g.140648046ATGT[1]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1191887	NC_000005.10:g.140648046_140648047del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1276546	NC_000005.10:g.140648046A>G	IK, NDUFA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196588	NC_000005.10:g.140648050A>G	IK, NDUFA2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 38