NDUFAF5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239842	NM_024120.5(NDUFAF5):c.189del (p.Glu64fs)	NDUFAF5 (E64fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GLikely pathogenic
Select item 755426	NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 214196	NM_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys)	NDUFAF5 (E64K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2789576	NM_024120.5(NDUFAF5):c.192G>A (p.Glu64=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1528545	NM_024120.5(NDUFAF5):c.195G>T (p.Pro65=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2141476	NM_024120.5(NDUFAF5):c.204del (p.Phe68fs)	NDUFAF5 (F68fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 390261	NM_024120.5(NDUFAF5):c.207C>T (p.Asp69=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3000082	NM_024120.5(NDUFAF5):c.210C>T (p.Tyr70=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 559164	NM_024120.5(NDUFAF5):c.213G>C (p.Leu71=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2123793	NM_024120.5(NDUFAF5):c.217dup (p.Glu73fs)	NDUFAF5 (E73fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 377595	NM_024120.5(NDUFAF5):c.216G>A (p.Lys72=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3187506	NM_024120.5(NDUFAF5):c.218A>G (p.Glu73Gly)	NDUFAF5 (E73G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2775770	NM_024120.5(NDUFAF5):c.219G>A (p.Glu73=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2824264	NM_024120.5(NDUFAF5):c.220G>T (p.Glu74Ter)	NDUFAF5 (E74*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1610625	NM_024120.5(NDUFAF5):c.222+8_222+23del	NDUFAF5	Deletion (intron variant)	not provided	GLikely benign
Select item 1099838	NM_024120.5(NDUFAF5):c.222+7C>T	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 214198	NM_024120.5(NDUFAF5):c.222+8_222+15del	NDUFAF5	Deletion (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GBenign
Select item 3006081	NM_024120.5(NDUFAF5):c.222+8_222+16del	NDUFAF5	Deletion (intron variant)	not provided	GLikely benign
Select item 2091123	NM_024120.5(NDUFAF5):c.222+9_222+10insTGGGGCGGCGGGGCGG	NDUFAF5	Insertion (intron variant)	not provided	GLikely benign
Select item 1564430	NM_024120.5(NDUFAF5):c.222+11_222+12insAAGCGGCGGGGCGGCGGGGCGGCG	NDUFAF5	Insertion (intron variant)	not provided	GLikely benign
Select item 1165962	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[4]	NDUFAF5	Microsatellite (intron variant)	not provided	GBenign
Select item 1150230	NM_024120.5(NDUFAF5):c.222+8C>T	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143319	NM_024120.5(NDUFAF5):c.222+14_222+15insTGGCGGGG	NDUFAF5	Insertion (intron variant)	not provided	GLikely benign
Select item 1133298	NM_024120.5(NDUFAF5):c.222+10_222+11insCGGGCGGCGGGGCGGC	NDUFAF5	Insertion (intron variant)	not provided	GLikely benign
Select item 1130845	NM_024120.5(NDUFAF5):c.222+12_222+13insCGCGGCGGGGCGGCGG	NDUFAF5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1081258	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[7]	NDUFAF5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 770668	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5]	NDUFAF5	Microsatellite (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GBenign/Likely benign
Select item 728279	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[6]	NDUFAF5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 559166	NM_024120.5(NDUFAF5):c.222+8C>G	NDUFAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1101725	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[2]	NDUFAF5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2810906	NM_024120.5(NDUFAF5):c.222+14dup	NDUFAF5	Duplication (intron variant)	not provided	GBenign
Select item 2703163	NM_024120.5(NDUFAF5):c.222+16_222+17insACAGGGCG	NDUFAF5	Insertion (intron variant)	not provided	GLikely benign
Select item 2914841	NM_024120.5(NDUFAF5):c.222+16G>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022441	NM_024120.5(NDUFAF5):c.222+16_222+17delinsCT	NDUFAF5	Indel (intron variant)	not provided	GUncertain significance
Select item 2874407	NM_024120.5(NDUFAF5):c.222+17G>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006082	NM_024120.5(NDUFAF5):c.222+18C>G	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136601	NM_024120.5(NDUFAF5):c.222+18C>T	NDUFAF5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2890051	NM_024120.5(NDUFAF5):c.222+19G>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833496	NM_024120.5(NDUFAF5):c.222+20G>C	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196526	NM_024120.5(NDUFAF5):c.222+127C>T	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803277	NM_024120.5(NDUFAF5):c.223-907A>T	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745775	NM_024120.5(NDUFAF5):c.223-907A>G	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1162277	NM_024120.5(NDUFAF5):c.223-907A>C	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1271586	NM_024120.5(NDUFAF5):c.223-246TG[10]	NDUFAF5	Microsatellite (intron variant)	not provided	GBenign
Select item 1218780	NM_024120.5(NDUFAF5):c.223-246TG[8]	NDUFAF5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1248583	NM_024120.5(NDUFAF5):c.223-116T>C	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 514437	NM_024120.5(NDUFAF5):c.223-20C>A	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 1978498	NM_024120.5(NDUFAF5):c.223-19G>A	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1165923	NM_024120.5(NDUFAF5):c.223-15C>T	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2916677	NM_024120.5(NDUFAF5):c.223-14G>A	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2027633	NM_024120.5(NDUFAF5):c.223-13T>C	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2965135	NM_024120.5(NDUFAF5):c.223-12G>A	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 991359	NM_024120.5(NDUFAF5):c.223-6C>T	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1538541	NM_024120.5(NDUFAF5):c.223-4T>A	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2579156	NM_024120.5(NDUFAF5):c.223-2A>T	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GPathogenic
Select item 2158968	NM_024120.5(NDUFAF5):c.223-1G>T	NDUFAF5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 991360	NM_024120.5(NDUFAF5):c.232C>T (p.Arg78Trp)	NDUFAF5 (R78W)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GUncertain significance
Select item 991361	NM_024120.5(NDUFAF5):c.233G>A (p.Arg78Gln)	NDUFAF5 (R78Q)	Single nucleotide variant (missense variant +2 more)	Leigh syndrome	GUncertain significance
Select item 991362	NM_024120.5(NDUFAF5):c.235A>T (p.Ile79Phe)	NDUFAF5 (I79F)	Single nucleotide variant (missense variant +2 more)	Leigh syndrome	GUncertain significance
Select item 618243	NM_024120.5(NDUFAF5):c.237C>T (p.Ile79=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1987209	NM_024120.5(NDUFAF5):c.244C>T (p.Arg82Cys)	NDUFAF5 (R82C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 383186	NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His)	NDUFAF5 (R82H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198766	NM_024120.5(NDUFAF5):c.247G>C (p.Val83Leu)	NDUFAF5 (V83L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1139354	NM_024120.5(NDUFAF5):c.249A>G (p.Val83=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 991363	NM_024120.5(NDUFAF5):c.251A>G (p.Tyr84Cys)	NDUFAF5 (Y84C)	Single nucleotide variant (missense variant +2 more)	Leigh syndrome	GUncertain significance
Select item 1120574	NM_024120.5(NDUFAF5):c.255C>T (p.Asp85=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2856067	NM_024120.5(NDUFAF5):c.263+1G>A	NDUFAF5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2039861	NM_024120.5(NDUFAF5):c.263+1G>C	NDUFAF5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2755003	NM_024120.5(NDUFAF5):c.263+2T>C	NDUFAF5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 991364	NM_024120.5(NDUFAF5):c.263+7G>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764098	NM_024120.5(NDUFAF5):c.263+8G>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2798784	NM_024120.5(NDUFAF5):c.263+11G>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986895	NM_024120.5(NDUFAF5):c.263+19A>G	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673878	NM_024120.5(NDUFAF5):c.263+81T>G	NDUFAF5	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GBenign
Select item 2912379	NM_024120.5(NDUFAF5):c.264-18C>T	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1979887	NM_024120.5(NDUFAF5):c.264-14G>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377336	NM_024120.5(NDUFAF5):c.264-3dup	NDUFAF5	Duplication (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2835404	NM_024120.5(NDUFAF5):c.264-3del	NDUFAF5	Deletion (intron variant)	not provided	GBenign
Select item 1536691	NM_024120.5(NDUFAF5):c.264-9T>C	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765374	NM_024120.5(NDUFAF5):c.264-8T>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982531	NM_024120.5(NDUFAF5):c.274del (p.Ala93fs)	NDUFAF5 (A93fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2800858	NM_024120.5(NDUFAF5):c.270C>T (p.Phe90=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2043633	NM_024120.5(NDUFAF5):c.271C>T (p.Pro91Ser)	NDUFAF5 (P91S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1543922	NM_024120.5(NDUFAF5):c.273C>T (p.Pro91=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1140420	NM_024120.5(NDUFAF5):c.273C>A (p.Pro91=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1909379	NM_024120.5(NDUFAF5):c.277_280del (p.Ala93fs)	NDUFAF5 (A93fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 1696387	NM_024120.5(NDUFAF5):c.285T>A (p.Asp95Glu)	NDUFAF5 (D95E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2055238	NM_024120.5(NDUFAF5):c.286C>A (p.Leu96Ile)	NDUFAF5 (L96I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214199	NM_024120.5(NDUFAF5):c.289G>A (p.Gly97Ser)	NDUFAF5 (G97S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 374217	NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp)	NDUFAF5 (G97D)	Single nucleotide variant (missense variant +2 more)	Leber plus disease	GLikely pathogenic
Select item 2096453	NM_024120.5(NDUFAF5):c.291T>C (p.Gly97=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2835931	NM_024120.5(NDUFAF5):c.294T>C (p.Cys98=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2823093	NM_024120.5(NDUFAF5):c.300A>G (p.Arg100=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1997250	NM_024120.5(NDUFAF5):c.309T>C (p.Ile103=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1960159	NM_024120.5(NDUFAF5):c.309T>A (p.Ile103=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2764180	NM_024120.5(NDUFAF5):c.312A>T (p.Ala104=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1143735	NM_024120.5(NDUFAF5):c.315A>G (p.Gln105=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2881980	NM_024120.5(NDUFAF5):c.326A>C (p.Lys109Thr)	NDUFAF5 (K109T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 265061	NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	NDUFAF5 (K109N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2063118	NM_024120.5(NDUFAF5):c.327+2T>C	NDUFAF5	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic

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