C0023264[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336102	NM_133259.4(LRPPRC):c.*2048dup	LRPPRC	Duplication (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 336122	NM_133259.4(LRPPRC):c.1445_1456dup	LRPPRC	Duplication (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 336121	NM_133259.4(LRPPRC):c.1449_1456dup	LRPPRC	Duplication (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 336123	NM_133259.4(LRPPRC):c.*1435del	LRPPRC	Deletion (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 336124	NM_133259.4(LRPPRC):c.1387_1390dup	LRPPRC	Duplication (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 989331	NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val)	LRPPRC (I686V)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 989332	NM_133259.4(LRPPRC):c.1921-7A>G	LRPPRC	Single nucleotide variant (intron variant)	Leigh syndrome	GUncertain significance
Select item 336160	NM_133259.4(LRPPRC):c.1677+7C>T	LRPPRC	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 336169	NM_133259.4(LRPPRC):c.1156-13dup	LRPPRC	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214614	NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)	LRPPRC (A3T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 336181	NM_133259.3(LRPPRC):c.-45G>A	LRPPRC	Single nucleotide variant (genic upstream transcript variant)	Leigh syndrome +1 more	GBenign
Select item 897717	NM_005006.7(NDUFS1):c.*1077A>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333762	NM_005006.7(NDUFS1):c.*966A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 897718	NM_005006.7(NDUFS1):c.*938C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333763	NM_005006.7(NDUFS1):c.*866A>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 898873	NM_005006.7(NDUFS1):c.*864G>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333764	NM_005006.7(NDUFS1):c.*846dup	NDUFS1	Duplication (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333765	NM_005006.7(NDUFS1):c.*846del	NDUFS1	Deletion (3 prime UTR variant)	Mitochondrial complex I deficiency +1 more	GLikely benign
Select item 333766	NM_005006.7(NDUFS1):c.*756A>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333767	NM_005006.7(NDUFS1):c.*733A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GBenign
Select item 333768	NM_005006.7(NDUFS1):c.*641A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 895906	NM_005006.7(NDUFS1):c.*574T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 333769	NM_005006.7(NDUFS1):c.*561T>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333770	NM_005006.7(NDUFS1):c.*504G>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 896189	NM_005006.7(NDUFS1):c.*459A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333771	NM_005006.7(NDUFS1):c.*457T>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 333772	NM_005006.7(NDUFS1):c.*438C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 896190	NM_005006.7(NDUFS1):c.*426T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333773	NM_005006.7(NDUFS1):c.*399G>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 897792	NM_005006.7(NDUFS1):c.*341A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 333774	NM_005006.7(NDUFS1):c.*336G>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333775	NM_005006.7(NDUFS1):c.*256C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 333776	NM_005006.7(NDUFS1):c.*158T>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign/Likely benign
Select item 333777	NM_005006.7(NDUFS1):c.*151T>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 898933	NM_005006.7(NDUFS1):c.*130A>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333778	NM_005006.7(NDUFS1):c.*93dup	NDUFS1	Duplication (3 prime UTR variant)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 898934	NM_005006.7(NDUFS1):c.*53T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 333779	NM_005006.7(NDUFS1):c.*27C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +2 more	GUncertain significance
Select item 333780	NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)	NDUFS1 (N669S +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 894804	NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)	NDUFS1 (D546N +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 894805	NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)	NDUFS1 (I526T +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 896255	NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)	NDUFS1 (R481W +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 214774	NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)	NDUFS1 (V534M +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 896256	NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)	NDUFS1 (D523Y +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333781	NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	NDUFS1 (V506I +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 897860	NM_005006.7(NDUFS1):c.1393-7T>A	NDUFS1	Single nucleotide variant (intron variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 333782	NM_005006.7(NDUFS1):c.1393-7del	NDUFS1	Deletion (intron variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 138480	NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 333783	NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val)	NDUFS1 (I455V +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 897861	NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)	NDUFS1 (L374F +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 138479	NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)	NDUFS1 (L431V +4 more)	Single nucleotide variant (missense variant)	NDUFS1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 129695	NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 333784	NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)	NDUFS1 (T374A +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 378252	NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 894879	NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)	NDUFS1 (M272T +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 138476	NM_005006.7(NDUFS1):c.975C>T (p.Arg325=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 129696	NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 894880	NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 378251	NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)	NDUFS1 (M204T +4 more)	Single nucleotide variant (missense variant)	NDUFS1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 138475	NM_005006.7(NDUFS1):c.551+14C>A	NDUFS1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 138474	NM_005006.7(NDUFS1):c.421-7A>G	NDUFS1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 138473	NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 333785	NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu)	NDUFS1 (D132E +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333786	NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr)	NDUFS1 (A122T +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 897942	NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 897943	NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly)	NDUFS1 (R113G +3 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333787	NM_005006.7(NDUFS1):c.262-15dup	NDUFS1	Duplication (intron variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 333788	NM_005006.7(NDUFS1):c.262-15del	NDUFS1	Deletion (intron variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 899079	NM_005006.7(NDUFS1):c.261+6T>C	NDUFS1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333789	NM_005006.7(NDUFS1):c.154-10_154-9del	NDUFS1	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138482	NM_005006.7(NDUFS1):c.123C>T (p.Val41=)	NDUFS1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 899080	NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)	NDUFS1 (T24A +1 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +3 more	GUncertain significance
Select item 899081	NM_005006.7(NDUFS1):c.63T>C (p.Val21=)	NDUFS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 894948	NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu)	NDUFS1 (V25E +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
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
Select item 898620	NM_001079866.2(BCS1L):c.-85G>A	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	GRACILE syndrome +3 more	GUncertain significance
Select item 334352	NM_001079866.2(BCS1L):c.-53G>T	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GUncertain significance
Select item 334353	NM_001079866.2(BCS1L):c.-50+425T>C	BCS1L	Single nucleotide variant (5 prime UTR variant +3 more)	Leigh syndrome +2 more	GUncertain significance
Select item 334354	NM_001079866.2(BCS1L):c.-50+458T>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Leigh syndrome +2 more	GUncertain significance
Select item 214155	NM_001079866.2(BCS1L):c.-43G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 334355	NM_001079866.2(BCS1L):c.-14G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 334356	NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val)	BCS1L (L38V)	Single nucleotide variant (missense variant +3 more)	Leigh syndrome +2 more	GUncertain significance
Select item 214156	NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 6169	NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	BCS1L (R56*)	Single nucleotide variant (nonsense +3 more)	BCS1L-Related Disorders +5 more	GPathogenic
Select item 380986	NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 290322	NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 334357	NM_001079866.2(BCS1L):c.258T>C (p.His86=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 334358	NM_001079866.2(BCS1L):c.321-12G>A	BCS1L	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 6171	NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)	BCS1L (R184C +2 more)	Single nucleotide variant (missense variant +1 more)	BCS1L-related condition +5 more	GConflicting classifications of pathogenicity
Select item 895700	NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser)	BCS1L (N69S +2 more)	Single nucleotide variant (missense variant +1 more)	GRACILE syndrome +2 more	GUncertain significance
Select item 214159	NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)	BCS1L (V205I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity

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