24316[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 324440	NM_016360.4(TACO1):c.-177C>T	TACO1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 892464	NM_016360.4(TACO1):c.-168A>G	TACO1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 324441	NM_016360.4(TACO1):c.-163A>G	TACO1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 3173340	NM_016360.4(TACO1):c.17C>T (p.Ala6Val)	TACO1 (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718962	NM_016360.4(TACO1):c.27A>G (p.Leu9=)	TACO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GLikely benign
Select item 2648081	NM_016360.4(TACO1):c.42C>G (p.Ala14=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233562	NM_016360.4(TACO1):c.53T>C (p.Leu18Pro)	TACO1 (L18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736395	NM_016360.4(TACO1):c.66C>T (p.Pro22=)	TACO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GLikely benign
Select item 1446075	NM_016360.4(TACO1):c.67G>A (p.Gly23Arg)	TACO1 (G23R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443668	NM_016360.4(TACO1):c.73A>G (p.Arg25Gly)	TACO1 (R25G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2090825	NM_016360.4(TACO1):c.75G>C (p.Arg25Ser)	TACO1 (R25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3324179	NM_016360.4(TACO1):c.76G>C (p.Ala26Pro)	TACO1 (A26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173344	NM_016360.4(TACO1):c.91G>A (p.Asp31Asn)	TACO1 (D31N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033410	NM_016360.4(TACO1):c.97dup (p.Arg33fs)	TACO1 (R33fs)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 818073	NM_016360.4(TACO1):c.97del (p.Arg33fs)	TACO1 (R33fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 215248	NM_016360.4(TACO1):c.98G>A (p.Arg33Gln)	TACO1 (R33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017897	NM_016360.4(TACO1):c.99G>A (p.Arg33=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2360946	NM_016360.4(TACO1):c.107A>C (p.His36Pro)	TACO1 (H36P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1955460	NM_016360.4(TACO1):c.127G>A (p.Gly43Ser)	TACO1 (G43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602922	NM_016360.4(TACO1):c.132C>A (p.Ala44=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536376	NM_016360.4(TACO1):c.156T>C (p.Phe52=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114215	NM_016360.4(TACO1):c.175G>A (p.Gly59Arg)	TACO1 (G59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067109	NM_016360.4(TACO1):c.180C>A (p.His60Gln)	TACO1 (H60Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750690	NM_016360.4(TACO1):c.204C>T (p.His68=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2279945	NM_016360.4(TACO1):c.206T>A (p.Ile69Asn)	TACO1 (I69N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501932	NM_016360.4(TACO1):c.208A>G (p.Lys70Glu)	TACO1 (K70E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 324442	NM_016360.4(TACO1):c.212G>C (p.Gly71Ala)	TACO1 (G71A)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 516715	NM_016360.4(TACO1):c.219G>A (p.Lys73=)	TACO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1953164	NM_016360.4(TACO1):c.246C>T (p.Ser82=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 987231	NM_016360.4(TACO1):c.252_253del (p.Cys85fs)	TACO1 (C85fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3026149	NM_016360.4(TACO1):c.252C>G (p.Leu84=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064510	NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer)	TACO1	Deletion (nonsense)	Mitochondrial complex 4 deficiency, nuclear type 8	GLikely pathogenic
Select item 324443	NM_016360.4(TACO1):c.261C>T (p.Asn87=)	TACO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 2146498	NM_016360.4(TACO1):c.265C>T (p.Arg89Cys)	TACO1 (R89C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443079	NM_016360.4(TACO1):c.280+1G>C	TACO1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1190750	NM_016360.4(TACO1):c.280+42T>A	TACO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207295	NM_016360.4(TACO1):c.280+231G>A	TACO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188728	NM_016360.4(TACO1):c.280+258G>A	TACO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684136	NM_016360.4(TACO1):c.281-177C>T	TACO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673706	NM_016360.4(TACO1):c.281-45A>C	TACO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294255	NM_016360.4(TACO1):c.281-10del	TACO1	Deletion (intron variant)	not provided	GLikely benign
Select item 1901159	NM_016360.4(TACO1):c.283G>A (p.Gly95Arg)	TACO1 (G95R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324444	NM_016360.4(TACO1):c.297T>G (p.Pro99=)	TACO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 516716	NM_016360.4(TACO1):c.327A>G (p.Leu109=)	TACO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GBenign/Likely benign
Select item 3173341	NM_016360.4(TACO1):c.337C>T (p.Arg113Cys)	TACO1 (R113C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339516	NM_016360.4(TACO1):c.347A>G (p.His116Arg)	TACO1 (H116R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878781	NM_016360.4(TACO1):c.353C>T (p.Pro118Leu)	TACO1 (P118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034268	NM_016360.4(TACO1):c.354C>T (p.Pro118=)	TACO1	Single nucleotide variant (synonymous variant)	TACO1-related disorder	GLikely benign
Select item 1177828	NM_016360.4(TACO1):c.387+80A>T	TACO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191244	NM_016360.4(TACO1):c.388-183G>A	TACO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945915	NM_016360.4(TACO1):c.388-19C>T	TACO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109775	NM_016360.4(TACO1):c.388-12T>C	TACO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950716	NM_016360.4(TACO1):c.394A>G (p.Lys132Glu)	TACO1 (K132E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795367	NM_016360.4(TACO1):c.408G>A (p.Leu136=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982266	NM_016360.4(TACO1):c.421C>T (p.Arg141Ter)	TACO1 (R141*)	Single nucleotide variant (nonsense)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GPathogenic
Select item 2550462	NM_016360.4(TACO1):c.422G>A (p.Arg141Gln)	TACO1 (R141Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2141926	NM_016360.4(TACO1):c.424G>A (p.Gly142Ser)	TACO1 (G142S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139386	NM_016360.4(TACO1):c.433G>A (p.Gly145Ser)	TACO1 (G145S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1514943	NM_016360.4(TACO1):c.448A>G (p.Ile150Val)	TACO1 (I150V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3173342	NM_016360.4(TACO1):c.450C>G (p.Ile150Met)	TACO1 (I150M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1543713	NM_016360.4(TACO1):c.451G>A (p.Glu151Lys)	TACO1 (E151K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1929101	NM_016360.4(TACO1):c.452A>G (p.Glu151Gly)	TACO1 (E151G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428976	NM_016360.4(TACO1):c.452A>C (p.Glu151Ala)	TACO1 (E151A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648082	NM_016360.4(TACO1):c.460T>C (p.Ser154Pro)	TACO1 (S154P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 411	NM_016360.4(TACO1):c.472dup (p.His158fs)	TACO1 (H158fs)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 1029447	NM_016360.4(TACO1):c.476A>G (p.Lys159Arg)	TACO1 (K159R)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 215244	NM_016360.4(TACO1):c.498T>C (p.His166=)	TACO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 324445	NM_016360.4(TACO1):c.511A>C (p.Asn171His)	TACO1 (N171H)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 324446	NM_016360.4(TACO1):c.515+11G>A	TACO1	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 1190383	NM_016360.4(TACO1):c.515+51A>G	TACO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676774	NM_016360.4(TACO1):c.516-132A>G	TACO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676775	NM_016360.4(TACO1):c.516-90A>G	TACO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 139387	NM_016360.4(TACO1):c.516-18T>A	TACO1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 743260	NM_016360.4(TACO1):c.538C>T (p.Arg180Cys)	TACO1 (R180C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2266415	NM_016360.4(TACO1):c.539G>A (p.Arg180His)	TACO1 (R180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183898	NM_016360.4(TACO1):c.559G>C (p.Gly187Arg)	TACO1 (G187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385683	NM_016360.4(TACO1):c.559G>T (p.Gly187Trp)	TACO1 (G187W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 931471	NM_016360.4(TACO1):c.583del (p.Asp195fs)	TACO1 (D195fs)	Deletion (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 381822	NM_016360.4(TACO1):c.609A>C (p.Leu203=)	TACO1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2160160	NM_016360.4(TACO1):c.613C>T (p.Arg205Cys)	TACO1 (R205C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215242	NM_016360.4(TACO1):c.614G>A (p.Arg205His)	TACO1 (R205H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1245212	NM_016360.4(TACO1):c.618C>T (p.Ala206=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 418512	NM_016360.4(TACO1):c.620T>C (p.Leu207Pro)	TACO1 (L207P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2472064	NM_016360.4(TACO1):c.634G>A (p.Glu212Lys)	TACO1 (E212K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 889083	NM_016360.4(TACO1):c.638C>A (p.Ala213Glu)	TACO1 (A213E)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 215246	NM_016360.4(TACO1):c.650A>T (p.Asp217Val)	TACO1 (D217V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2206115	NM_016360.4(TACO1):c.660A>C (p.Glu220Asp)	TACO1 (E220D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2998195	NM_016360.4(TACO1):c.684C>T (p.Asn228=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394869	NM_016360.4(TACO1):c.685G>A (p.Val229Ile)	TACO1 (V229I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436927	NM_016360.4(TACO1):c.693+4A>G	TACO1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 8	GUncertain significance
Select item 676776	NM_016360.4(TACO1):c.693+60T>C	TACO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 215247	NM_016360.4(TACO1):c.742T>G (p.Ser248Ala)	TACO1 (S248A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324447	NM_016360.4(TACO1):c.765C>G (p.Ser255=)	TACO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 1937755	NM_016360.4(TACO1):c.811C>T (p.Pro271Ser)	TACO1 (P271S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642870	NM_016360.4(TACO1):c.813C>T (p.Pro271=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2436926	NM_016360.4(TACO1):c.814G>A (p.Asp272Asn)	TACO1 (D272N)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 8	GUncertain significance
Select item 389411	NM_016360.4(TACO1):c.819G>A (p.Leu273=)	TACO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +2 more	GLikely benign
Select item 2162732	NM_016360.4(TACO1):c.828C>T (p.Ala276=)	TACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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