NDUFS3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 145004	GRCh38/hg38 11p11.2(chr11:47568261-47595569)x3	C1QTNF4, FAM180B +5 more	Copy number gain	See cases	GBenign
Select item 683070	NM_004551.1(NDUFS3):c.-292A>G	KBTBD4, NDUFS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239179	NC_000011.10:g.47578886C>T	KBTBD4, NDUFS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 304991	NM_004551.2(NDUFS3):c.-41T>C	NDUFS3	Single nucleotide variant	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 304992	NM_004551.2(NDUFS3):c.-30C>T	NDUFS3	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 877751	NM_004551.3(NDUFS3):c.-15C>G	NDUFS3	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 214805	NM_004551.3(NDUFS3):c.2T>G (p.Met1Arg)	NDUFS3 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2228564	NM_004551.3(NDUFS3):c.3G>C (p.Met1Ile)	NDUFS3 (M1I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2899076	NM_004551.3(NDUFS3):c.18A>G (p.Val6=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749232	NM_004551.3(NDUFS3):c.21C>T (p.Ala7=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980440	NM_004551.3(NDUFS3):c.22A>T (p.Arg8Trp)	NDUFS3 (R8W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803666	NM_004551.3(NDUFS3):c.22A>G (p.Arg8Gly)	NDUFS3 (R8G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964496	NM_004551.3(NDUFS3):c.23G>A (p.Arg8Lys)	NDUFS3 (R8K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188274	NM_004551.3(NDUFS3):c.25C>G (p.Leu9Val)	NDUFS3 (L9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2014671	NM_004551.3(NDUFS3):c.26T>C (p.Leu9Pro)	NDUFS3 (L9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697512	NM_004551.3(NDUFS3):c.27G>A (p.Leu9=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347086	NM_004551.3(NDUFS3):c.31T>C (p.Trp11Arg)	NDUFS3 (W11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 877752	NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys)	NDUFS3 (R12C)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 2577557	NM_004551.3(NDUFS3):c.37G>A (p.Gly13Arg)	NDUFS3 (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498513	NM_004551.3(NDUFS3):c.39G>T (p.Gly13=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131553	NM_004551.3(NDUFS3):c.40A>C (p.Ile14Leu)	NDUFS3 (I14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258085	NM_004551.3(NDUFS3):c.49dup (p.Ala17fs)	NDUFS3 (A17fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3188292	NM_004551.3(NDUFS3):c.49G>A (p.Ala17Thr)	NDUFS3 (A17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729614	NM_004551.3(NDUFS3):c.65G>A (p.Arg22Lys)	NDUFS3 (R22K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1353893	NM_004551.3(NDUFS3):c.67+4A>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2881034	NM_004551.3(NDUFS3):c.68-9C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610828	NM_004551.3(NDUFS3):c.68-5T>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214803	NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser)	NDUFS3 (P27S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1901463	NM_004551.3(NDUFS3):c.81C>T (p.Pro27=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 304993	NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 618750	NM_004551.3(NDUFS3):c.99G>T (p.Pro33=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188261	NM_004551.3(NDUFS3):c.118G>A (p.Gly40Arg)	NDUFS3 (G40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214804	NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)	NDUFS3	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2810417	NM_004551.3(NDUFS3):c.126C>T (p.Asp42=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449705	NM_004551.3(NDUFS3):c.127A>G (p.Thr43Ala)	NDUFS3 (T43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406925	NM_004551.3(NDUFS3):c.133+3_133+6del	NDUFS3	Deletion (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 1900024	NM_004551.3(NDUFS3):c.133+12C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3339641	NM_004551.3(NDUFS3):c.133+17A>C	NDUFS3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1202475	NM_004551.3(NDUFS3):c.133+176T>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253606	NM_004551.3(NDUFS3):c.134-100C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202388	NM_004551.3(NDUFS3):c.134-28C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514813	NM_004551.3(NDUFS3):c.134-17A>C	NDUFS3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 522043	NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln)	NDUFS3 (R50Q)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 1958277	NM_004551.3(NDUFS3):c.166A>G (p.Lys56Glu)	NDUFS3 (K56E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029719	NM_004551.3(NDUFS3):c.177A>C (p.Ser59=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510462	NM_004551.3(NDUFS3):c.185G>T (p.Gly62Val)	NDUFS3 (G62V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 304994	NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His)	NDUFS3 (Y64H)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 291319	NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met)	NDUFS3 (I68M)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 2434093	NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter)	NDUFS3 (Q75*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 8	GUncertain significance
Select item 1941501	NM_004551.3(NDUFS3):c.229C>A (p.Gln77Lys)	NDUFS3 (Q77K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621506	NM_004551.3(NDUFS3):c.231+9_231+12del	NDUFS3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1943426	NM_004551.3(NDUFS3):c.231+9T>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715465	NM_004551.3(NDUFS3):c.232-11C>G	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617881	NM_004551.3(NDUFS3):c.232-9T>C	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 631660	NM_004551.3(NDUFS3):c.232-1G>A	NDUFS3	Single nucleotide variant (splice acceptor variant)	NDUFS3-related disorder	GUncertain significance
Select item 2161784	NM_004551.3(NDUFS3):c.252A>T (p.Leu84Phe)	NDUFS3 (L84F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2164339	NM_004551.3(NDUFS3):c.255G>C (p.Glu85Asp)	NDUFS3 (E85D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521603	NM_004551.3(NDUFS3):c.269C>T (p.Pro90Leu)	NDUFS3 (P90L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1483822	NM_004551.3(NDUFS3):c.277G>A (p.Val93Ile)	NDUFS3 (V93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060231	NM_004551.3(NDUFS3):c.294T>C (p.Thr98=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641768	NM_004551.3(NDUFS3):c.297C>A (p.Phe99Leu)	NDUFS3 (F99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012195	NM_004551.3(NDUFS3):c.340T>G (p.Leu114Val)	NDUFS3 (L114V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712102	NM_004551.3(NDUFS3):c.347C>T (p.Ala116Val)	NDUFS3 (A116V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716746	NM_004551.3(NDUFS3):c.355G>A (p.Val119Ile)	NDUFS3 (V119I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2469945	NM_004551.3(NDUFS3):c.364C>T (p.Arg122Trp)	NDUFS3 (R122W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613319	NM_004551.3(NDUFS3):c.368A>C (p.Gln123Pro)	NDUFS3 (Q123P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580063	NM_004551.3(NDUFS3):c.373C>T (p.Arg125Cys)	NDUFS3 (R125C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418381	NM_004551.3(NDUFS3):c.374G>A (p.Arg125His)	NDUFS3 (R125H)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1360407	NM_004551.3(NDUFS3):c.381+2T>C	NDUFS3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2081283	NM_004551.3(NDUFS3):c.381+4A>G	NDUFS3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 304995	NM_004551.3(NDUFS3):c.381+5G>T	NDUFS3	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GUncertain significance
Select item 304996	NM_004551.3(NDUFS3):c.381+6T>C	NDUFS3	Single nucleotide variant (intron variant)	Leigh syndrome +3 more	GUncertain significance
Select item 2979007	NM_004551.3(NDUFS3):c.381+20_381+22del	NDUFS3	Deletion (intron variant)	not provided	GLikely benign
Select item 1258696	NM_004551.3(NDUFS3):c.381+189dup	NDUFS3	Duplication (intron variant)	not provided	GBenign
Select item 1252880	NM_004551.3(NDUFS3):c.381+189del	NDUFS3	Deletion (intron variant)	not provided	GBenign
Select item 684320	NM_004551.3(NDUFS3):c.381+193C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2431418	NM_004551.3(NDUFS3):c.382-1del	NDUFS3	Deletion (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 8	GLikely pathogenic
Select item 559381	NM_004551.3(NDUFS3):c.401C>G (p.Ser134Cys)	NDUFS3 (S134C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030815	NM_004551.3(NDUFS3):c.406C>T (p.Arg136Cys)	NDUFS3 (R136C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3342083	NM_004551.3(NDUFS3):c.413A>G (p.Asn138Ser)	NDUFS3 (N138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638291	NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp)	NDUFS3 (R140W)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 1064536	NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln)	NDUFS3 (R140Q)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 8	GUncertain significance
Select item 427108	NM_004551.3(NDUFS3):c.424C>T (p.Arg142Cys)	NDUFS3 (R142C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 879372	NM_004551.3(NDUFS3):c.425G>A (p.Arg142His)	NDUFS3 (R142H)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 6019	NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile)	NDUFS3 (T145I)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 8 +1 more	GPathogenic/Likely pathogenic
Select item 1700108	NM_004551.3(NDUFS3):c.473_474del (p.Ser158fs)	NDUFS3 (S158fs)	Microsatellite (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 214802	NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)	NDUFS3 (V159L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3012547	NM_004551.3(NDUFS3):c.492C>T (p.Asn164=)	NDUFS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2408828	NM_004551.3(NDUFS3):c.496T>C (p.Tyr166His)	NDUFS3 (Y166H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390313	NM_004551.3(NDUFS3):c.505G>A (p.Glu169Lys)	NDUFS3 (E169K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2415886	NM_004551.3(NDUFS3):c.507+10C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974521	NM_004551.3(NDUFS3):c.507+11G>A	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203490	NM_004551.3(NDUFS3):c.507+62C>T	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095644	NM_004551.3(NDUFS3):c.508-11C>G	NDUFS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305082	NM_004551.3(NDUFS3):c.538A>C (p.Asn180His)	NDUFS3 (N180H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312272	NM_004551.3(NDUFS3):c.540C>A (p.Asn180Lys)	NDUFS3 (N180K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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