CN257533[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 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 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 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 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 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 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
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 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 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 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 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 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

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