NDUFS6[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1087537	NM_004553.6(NDUFS6):c.18C>T (p.Thr6=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528515	NM_004553.6(NDUFS6):c.21C>T (p.Phe7=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 353189	NM_004553.6(NDUFS6):c.24C>T (p.Cys8=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2793891	NM_004553.6(NDUFS6):c.25C>A (p.Arg9=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214822	NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp)	NDUFS6 (R9W)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2140432	NM_004553.6(NDUFS6):c.26G>C (p.Arg9Pro)	NDUFS6 (R9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 353190	NM_004553.6(NDUFS6):c.27G>C (p.Arg9=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730823	NM_004553.6(NDUFS6):c.28C>T (p.Leu10=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444648	NM_004553.6(NDUFS6):c.29T>G (p.Leu10Arg)	NDUFS6 (L10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997880	NM_004553.6(NDUFS6):c.30G>T (p.Leu10=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676852	NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter)	NDUFS6 (N12*)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 795425	NM_004553.6(NDUFS6):c.31C>T (p.Leu11=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726873	NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)	NDUFS6 (L11V)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1138891	NM_004553.6(NDUFS6):c.33G>A (p.Leu11=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133274	NM_004553.6(NDUFS6):c.36C>T (p.Asn12=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1159019	NM_004553.6(NDUFS6):c.39G>C (p.Arg13=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1145204	NM_004553.6(NDUFS6):c.39G>A (p.Arg13=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003465	NM_004553.6(NDUFS6):c.42T>C (p.Cys14=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1081257	NM_004553.6(NDUFS6):c.45C>G (p.Gly15=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451220	NM_004553.6(NDUFS6):c.46G>T (p.Glu16Ter)	NDUFS6 (E16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1946907	NM_004553.6(NDUFS6):c.50C>G (p.Ala17Gly)	NDUFS6 (A17G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738822	NM_004553.6(NDUFS6):c.51G>T (p.Ala17=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516385	NM_004553.6(NDUFS6):c.51G>A (p.Ala17=)	NDUFS6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2846883	NM_004553.6(NDUFS6):c.53_56del (p.Ala18fs)	NDUFS6 (A18fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2202065	NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val)	NDUFS6 (A18V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1962866	NM_004553.6(NDUFS6):c.54G>A (p.Ala18=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588605	NM_004553.6(NDUFS6):c.54G>C (p.Ala18=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070875	NM_004553.6(NDUFS6):c.55C>G (p.Arg19Gly)	NDUFS6 (R19G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977135	NM_004553.6(NDUFS6):c.55C>A (p.Arg19=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136081	NM_004553.6(NDUFS6):c.57G>C (p.Arg19=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189334	NM_004553.6(NDUFS6):c.61C>T (p.Leu21=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973646	NM_004553.6(NDUFS6):c.67dup (p.Leu23fs)	NDUFS6 (L23fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2057283	NM_004553.6(NDUFS6):c.63G>A (p.Leu21=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080992	NM_004553.6(NDUFS6):c.63G>T (p.Leu21=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3299072	NM_004553.6(NDUFS6):c.64C>A (p.Pro22Thr)	NDUFS6 (P22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1105104	NM_004553.6(NDUFS6):c.66C>T (p.Pro22=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480955	NM_004553.6(NDUFS6):c.67C>A (p.Leu23Met)	NDUFS6 (L23M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444658	NM_004553.6(NDUFS6):c.67C>G (p.Leu23Val)	NDUFS6 (L23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728741	NM_004553.6(NDUFS6):c.67C>T (p.Leu23=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2995456	NM_004553.6(NDUFS6):c.71del (p.Gly24fs)	NDUFS6 (G24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1943584	NM_004553.6(NDUFS6):c.72C>T (p.Gly24=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158982	NM_004553.6(NDUFS6):c.75C>T (p.Ala25=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595162	NM_004553.6(NDUFS6):c.78G>A (p.Arg26=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800912	NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr)	NDUFS6 (C27Y)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 1414839	NM_004553.6(NDUFS6):c.83T>A (p.Phe28Tyr)	NDUFS6 (F28Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2786280	NM_004553.6(NDUFS6):c.84C>T (p.Phe28=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702687	NM_004553.6(NDUFS6):c.85G>A (p.Gly29Arg)	NDUFS6 (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631112	NM_004553.6(NDUFS6):c.87G>C (p.Gly29=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130725	NM_004553.6(NDUFS6):c.87G>A (p.Gly29=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555862	NM_004553.6(NDUFS6):c.90G>A (p.Val30=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502567	NM_004553.6(NDUFS6):c.92G>A (p.Arg31Gln)	NDUFS6 (R31Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323890	NM_004553.6(NDUFS6):c.92G>C (p.Arg31Pro)	NDUFS6 (R31P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1398895	NM_004553.6(NDUFS6):c.92G>T (p.Arg31Leu)	NDUFS6 (R31L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2655278	NM_004553.6(NDUFS6):c.94G>A (p.Val32Ile)	NDUFS6 (V32I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1119114	NM_004553.6(NDUFS6):c.96C>T (p.Val32=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 382789	NM_004553.6(NDUFS6):c.96C>A (p.Val32=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 753670	NM_004553.6(NDUFS6):c.102G>A (p.Pro34=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887603	NM_004553.6(NDUFS6):c.105C>T (p.Thr35=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527997	NM_004553.6(NDUFS6):c.108G>A (p.Gly36=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212407	NM_004553.6(NDUFS6):c.109G>T (p.Glu37Ter)	NDUFS6 (E37*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 718435	NM_004553.6(NDUFS6):c.117C>G (p.Val39=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479483	NM_004553.6(NDUFS6):c.119C>T (p.Thr40Met)	NDUFS6 (T40M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1083393	NM_004553.6(NDUFS6):c.120G>A (p.Thr40=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1086581	NM_004553.6(NDUFS6):c.123C>T (p.His41=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085970	NM_004553.6(NDUFS6):c.128G>T (p.Gly43Val)	NDUFS6 (G43V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2109975	NM_004553.6(NDUFS6):c.129C>G (p.Gly43=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110597	NM_004553.6(NDUFS6):c.129C>T (p.Gly43=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010865	NM_004553.6(NDUFS6):c.132+1G>C	NDUFS6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1647200	NM_004553.6(NDUFS6):c.132+8C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 759279	NM_004553.6(NDUFS6):c.132+9C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006009	NM_004553.6(NDUFS6):c.132+10G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877558	NM_004553.6(NDUFS6):c.132+10G>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956181	NM_004553.6(NDUFS6):c.132+15G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185223	NM_004553.6(NDUFS6):c.132+26A>C	NDUFS6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1200166	NM_004553.6(NDUFS6):c.132+272T>C	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683110	NM_004553.6(NDUFS6):c.132+273A>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238531	NM_004553.6(NDUFS6):c.132+309G>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683111	NM_004553.6(NDUFS6):c.133-206C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216493	NM_004553.6(NDUFS6):c.133-191C>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214098	NM_004553.6(NDUFS6):c.133-185G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189675	NM_004553.6(NDUFS6):c.133-109T>C	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204469	NM_004553.6(NDUFS6):c.133-82C>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885210	NM_004553.6(NDUFS6):c.133-20G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898689	NM_004553.6(NDUFS6):c.133-18C>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840617	NM_004553.6(NDUFS6):c.133-13del	NDUFS6	Deletion (intron variant)	not provided	GBenign
Select item 2911746	NM_004553.6(NDUFS6):c.133-5dup	NDUFS6	Duplication (intron variant)	not provided	GBenign
Select item 1115881	NM_004553.6(NDUFS6):c.133-10T>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980507	NM_004553.6(NDUFS6):c.133-8T>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635141	NM_004553.6(NDUFS6):c.133-7T>C	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 252631	NM_004553.6(NDUFS6):c.133-4C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504311	NM_004553.6(NDUFS6):c.133-2A>G	NDUFS6	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2696312	NM_004553.6(NDUFS6):c.147A>G (p.Lys49=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558093	NM_004553.6(NDUFS6):c.153C>T (p.Tyr51=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 353191	NM_004553.6(NDUFS6):c.155G>C (p.Arg52Thr)	NDUFS6 (R52T)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 765370	NM_004553.6(NDUFS6):c.165G>T (p.Arg55=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2677003	NM_004553.6(NDUFS6):c.182_185del (p.Lys61fs)	NDUFS6 (K61fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 3239851	NM_004553.6(NDUFS6):c.185_186del (p.Glu62fs)	NDUFS6 (E62fs)	Microsatellite (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 2677006	NM_004553.6(NDUFS6):c.186+1G>A	NDUFS6	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 6016	NM_004553.6(NDUFS6):c.186+2T>A	NDUFS6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1165312	NM_004553.6(NDUFS6):c.186+12dup	NDUFS6	Duplication (intron variant)	not provided	GBenign

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