"GeneDx"[submitter] AND "NDUFS2"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 293262	NM_004550.5(NDUFS2):c.-388G>T	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 1207148	NM_004550.5(NDUFS2):c.-239-201A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 507519	NM_004550.5(NDUFS2):c.-45T>C	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514078	NM_004550.5(NDUFS2):c.-26T>A	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 138489	NM_004550.5(NDUFS2):c.-20C>T	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 214788	NM_001377299.1(NDUFS2):c.30C>A (p.Phe10Leu)	LOC129931761, NDUFS2 (F10L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 516382	NM_001377299.1(NDUFS2):c.39C>A (p.Val13=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 293269	NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr)	NDUFS2, LOC129931761 (P20T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 2136289	NM_001377299.1(NDUFS2):c.59C>T (p.Pro20Leu)	LOC129931761, NDUFS2 (P20L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 214789	NM_001377299.1(NDUFS2):c.70G>C (p.Val24Leu)	LOC129931761, NDUFS2 (V24L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 391385	NM_001377299.1(NDUFS2):c.95+8C>T	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 214790	NM_001377299.1(NDUFS2):c.95+9G>C	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign/Likely benign
Select item 1187689	NM_001377299.1(NDUFS2):c.95+243G>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672559	NM_001377299.1(NDUFS2):c.95+255C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214799	NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)	NDUFS2 (Y53C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +3 more	GUncertain significance
Select item 214791	NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign/Likely benign
Select item 1180403	NM_001377299.1(NDUFS2):c.203-230del	NDUFS2	Deletion (intron variant)	not provided	GBenign
Select item 1229436	NM_001377299.1(NDUFS2):c.203-60A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214792	NM_001377299.1(NDUFS2):c.212C>T (p.Pro71Leu)	NDUFS2 (P71L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1245564	NM_001377299.1(NDUFS2):c.273G>A (p.Ala91=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1208141	NM_001377299.1(NDUFS2):c.287G>C (p.Arg96Pro)	NDUFS2 (R96P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365853	NM_001377299.1(NDUFS2):c.386A>G (p.Tyr129Cys)	NDUFS2 (Y129C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214800	NM_001377299.1(NDUFS2):c.393+5G>A	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 682109	NM_001377299.1(NDUFS2):c.393+12G>A	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GLikely benign
Select item 676273	NM_001377299.1(NDUFS2):c.393+132G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671138	NM_001377299.1(NDUFS2):c.394-299T>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389800	NM_001377299.1(NDUFS2):c.514+11C>G	NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 214786	NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1616576	NM_001377299.1(NDUFS2):c.600C>T (p.Phe200=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 138484	NM_001377299.1(NDUFS2):c.628-12C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 507255	NM_001377299.1(NDUFS2):c.702+4A>C	NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 293276	NM_001377299.1(NDUFS2):c.702+14_702+17dup	NDUFS2	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1241229	NM_001377299.1(NDUFS2):c.703-24G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1331115	NM_001377299.1(NDUFS2):c.767A>G (p.Asp256Gly)	NDUFS2 (D256G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363590	NM_001377299.1(NDUFS2):c.779A>G (p.Glu260Gly)	NDUFS2 (E260G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1197189	NM_001377299.1(NDUFS2):c.781-33G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214798	NM_001377299.1(NDUFS2):c.781-4A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 138485	NM_001377299.1(NDUFS2):c.866+8G>A	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 214793	NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr)	NDUFS2 (M292T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1303551	NM_001377299.1(NDUFS2):c.880C>T (p.Arg294Trp)	NDUFS2 (R294W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 516428	NM_001377299.1(NDUFS2):c.939G>A (p.Gln313=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 214794	NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)	NDUFS2 (V320A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138486	NM_001377299.1(NDUFS2):c.986+12A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 674170	NM_001377299.1(NDUFS2):c.987-273G>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194153	NM_001377299.1(NDUFS2):c.987-66C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303015	NM_001377299.1(NDUFS2):c.998G>A (p.Arg333Gln)	NDUFS2 (R333Q)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 129697	NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala)	NDUFS2 (P352A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign/Likely benign
Select item 513165	NM_001377299.1(NDUFS2):c.1116+19G>A	NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382030	NM_001377299.1(NDUFS2):c.1116+20A>G	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GLikely benign
Select item 678042	NM_001377299.1(NDUFS2):c.1116+214A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674171	NM_001377299.1(NDUFS2):c.1117-187G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214795	NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)	NDUFS2 (H380D)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 390263	NM_001377299.1(NDUFS2):c.1179A>G (p.Pro393=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 682383	NM_001377299.1(NDUFS2):c.1213-20C>T	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GLikely benign
Select item 214797	NM_001377299.1(NDUFS2):c.1225G>A (p.Val409Met)	NDUFS2 (V409M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3375632	NM_001377299.1(NDUFS2):c.1234G>C (p.Val412Leu)	NDUFS2 (V386L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6711	NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro)	NDUFS2 (S413P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GLikely pathogenic
Select item 1327371	NM_001377299.1(NDUFS2):c.1279C>T (p.Pro427Ser)	NDUFS2 (P427S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 129698	NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign
Select item 985317	NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)	NDUFS2 (H442Y)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GConflicting classifications of pathogenicity
Select item 138487	NM_001377299.1(NDUFS2):c.1354+5G>A	NDUFS2	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 516363	NM_001377299.1(NDUFS2):c.1354+37A>G	NDUFS2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 384278	NM_001377299.1(NDUFS2):c.1355-7C>T	NDUFS2	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GLikely benign
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 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 +1 more	GConflicting classifications of pathogenicity
Select item 1810179	NM_001377299.1(NDUFS2):c.1387C>G (p.Arg463Gly)	NDUFS2 (R437G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1282157	NM_001377299.1(NDUFS2):c.*78GT[19]	NDUFS2	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1253405	NM_001377299.1(NDUFS2):c.*78GT[17]	NDUFS2	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1212124	NM_001377299.1(NDUFS2):c.*78GT[20]	NDUFS2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1211597	NM_001377299.1(NDUFS2):c.*78GT[21]	NDUFS2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
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 293288	NM_001377299.1(NDUFS2):c.*108A>T	NDUFS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +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)	not provided +2 more	GBenign

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Items: 81