MTO1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 1275876	NC_000006.12:g.73461538TAAA[7]	MTO1	Microsatellite	not provided	GBenign
Select item 1273624	NC_000006.12:g.73461538TAAA[9]	MTO1	Microsatellite	not provided	GBenign
Select item 1248845	NC_000006.12:g.73461538TAAA[6]	MTO1	Microsatellite	not provided	GBenign
Select item 1198658	NC_000006.12:g.73461538TAAA[13]	MTO1	Microsatellite	not provided	GLikely benign
Select item 1197971	NC_000006.12:g.73461538TAAA[8]	MTO1	Microsatellite	not provided	GLikely benign
Select item 1193506	NC_000006.12:g.73461538TAAA[12]	MTO1	Microsatellite	not provided	GLikely benign
Select item 1272952	NC_000006.12:g.73461661C>A	MTO1	Single nucleotide variant	not provided	GBenign
Select item 1291359	NM_012123.4(MTO1):c.-111C>G	MTO1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 384261	NM_012123.4(MTO1):c.-45C>A	MTO1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514611	NM_012123.4(MTO1):c.-13T>G	MTO1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 641565	NC_000006.11:g.(?_74171568)_(74202085_?)dup	LOC129996722, MTO1	Duplication	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 640995	NC_000006.11:g.(?_74171568)_(74210468_?)dup	LOC129996722, MTO1	Duplication	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2441669	NM_012123.4(MTO1):c.-4C>T	MTO1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2422036	NM_012123.4(MTO1):c.8A>G (p.Tyr3Cys)	MTO1 (Y3C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2118096	NM_012123.4(MTO1):c.8A>C (p.Tyr3Ser)	MTO1 (Y3S)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2006683	NM_012123.4(MTO1):c.9C>T (p.Tyr3=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2161063	NM_012123.4(MTO1):c.10T>C (p.Phe4Leu)	MTO1 (F4L)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2174170	NM_012123.4(MTO1):c.12C>T (p.Phe4=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1460818	NM_012123.4(MTO1):c.22G>T (p.Gly8Cys)	MTO1 (G8C)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1563032	NM_012123.4(MTO1):c.24C>T (p.Gly8=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1441644	NM_012123.4(MTO1):c.25C>G (p.Arg9Gly)	MTO1 (R9G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1602807	NM_012123.4(MTO1):c.27T>C (p.Arg9=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1547736	NM_012123.4(MTO1):c.33C>T (p.Val11=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2755480	NM_012123.4(MTO1):c.36G>T (p.Ala12=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1396276	NM_012123.4(MTO1):c.37G>A (p.Val13Ile)	MTO1 (V13I)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2077576	NM_012123.4(MTO1):c.38T>C (p.Val13Ala)	MTO1 (V13A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1986149	NM_012123.4(MTO1):c.45C>T (p.Phe15=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2151965	NM_012123.4(MTO1):c.49A>C (p.Lys17Gln)	MTO1 (K17Q)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1419663	NM_012123.4(MTO1):c.49A>G (p.Lys17Glu)	MTO1 (K17E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1422273	NM_012123.4(MTO1):c.59T>C (p.Phe20Ser)	MTO1 (F20S)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1484759	NM_012123.4(MTO1):c.60_61delinsAA (p.Phe20_Pro21delinsLeuThr)	MTO1	Indel (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1490326	NM_012123.4(MTO1):c.61C>G (p.Pro21Ala)	MTO1 (P21A)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 408277	NM_012123.4(MTO1):c.61C>T (p.Pro21Ser)	MTO1 (P21S)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 408275	NM_012123.4(MTO1):c.70C>T (p.Arg24Trp)	MTO1 (R24W)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1407640	NM_012123.4(MTO1):c.71G>A (p.Arg24Gln)	MTO1 (R24Q)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1367659	NM_012123.4(MTO1):c.78C>G (p.Ser26Arg)	MTO1 (S26R)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1027766	NM_012123.4(MTO1):c.79A>T (p.Ser27Cys)	MTO1 (S27C)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1380886	NM_012123.4(MTO1):c.80G>T (p.Ser27Ile)	MTO1 (S27I)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1031741	NM_012123.4(MTO1):c.82G>A (p.Asp28Asn)	MTO1 (D28N)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1009341	NM_012123.4(MTO1):c.83A>C (p.Asp28Ala)	MTO1 (D28A)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2431661	NM_012123.4(MTO1):c.89_90dup (p.Ala31fs)	MTO1 (A31fs)	Microsatellite (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely pathogenic
Select item 1360315	NM_012123.4(MTO1):c.85A>T (p.Ser29Cys)	MTO1 (S29C)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2074436	NM_012123.4(MTO1):c.93G>A (p.Ala31=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 935389	NM_012123.4(MTO1):c.94C>T (p.Pro32Ser)	MTO1 (P32S)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 638475	NM_012123.4(MTO1):c.97del (p.Arg33fs)	MTO1 (R33fs)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 1649810	NM_012123.4(MTO1):c.96C>G (p.Pro32=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 513495	NM_012123.4(MTO1):c.96C>T (p.Pro32=)	MTO1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1518969	NM_012123.4(MTO1):c.97C>G (p.Arg33Gly)	MTO1 (R33G)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 648658	NM_012123.4(MTO1):c.97C>T (p.Arg33Trp)	MTO1 (R33W)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1879663	NM_012123.4(MTO1):c.103C>G (p.Pro35Ala)	MTO1 (P35A)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GUncertain significance
Select item 1371024	NM_012123.4(MTO1):c.104C>T (p.Pro35Leu)	MTO1 (P35L)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2123777	NM_012123.4(MTO1):c.105G>A (p.Pro35=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1057655	NM_012123.4(MTO1):c.108C>G (p.His36Gln)	MTO1 (H36Q)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2044041	NM_012123.4(MTO1):c.111C>T (p.Phe37=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2013954	NM_012123.4(MTO1):c.114C>T (p.Asp38=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 950281	NM_012123.4(MTO1):c.115G>A (p.Val39Met)	MTO1 (V39M)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1491519	NM_012123.4(MTO1):c.122T>G (p.Val41Gly)	MTO1 (V41G)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2141672	NM_012123.4(MTO1):c.123C>G (p.Val41=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1379659	NM_012123.4(MTO1):c.128G>T (p.Gly43Val)	MTO1 (G43V)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2174383	NM_012123.4(MTO1):c.129T>C (p.Gly43=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2790567	NM_012123.4(MTO1):c.135A>G (p.Gly45=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2718305	NM_012123.4(MTO1):c.137dup (p.His46fs)	MTO1 (H46fs)	Duplication (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GPathogenic
Select item 1345545	NM_012123.4(MTO1):c.139G>A (p.Ala47Thr)	MTO1 (A47T)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1716709	NM_012123.4(MTO1):c.142G>A (p.Gly48Arg)	MTO1 (G48R)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1448605	NM_012123.4(MTO1):c.146C>T (p.Thr49Ile)	MTO1 (T49I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1432651	NM_012123.4(MTO1):c.146C>G (p.Thr49Ser)	MTO1 (T49S)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2045707	NM_012123.4(MTO1):c.147T>C (p.Thr49=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 931370	NM_012123.4(MTO1):c.153_174del (p.Thr53fs)	MTO1 (T53fs)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely pathogenic
Select item 1943442	NM_012123.4(MTO1):c.152C>T (p.Ala51Val)	MTO1 (A51V)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2870302	NM_012123.4(MTO1):c.159C>T (p.Thr53=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1109447	NM_012123.4(MTO1):c.159C>G (p.Thr53=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2002822	NM_012123.4(MTO1):c.165C>G (p.Ala55=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1373549	NM_012123.4(MTO1):c.166G>A (p.Ala56Thr)	MTO1 (A56T)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1429574	NM_012123.4(MTO1):c.175G>T (p.Gly59Cys)	MTO1 (G59C)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 540425	NM_012123.4(MTO1):c.176G>C (p.Gly59Ala)	MTO1 (G59A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 759492	NM_012123.4(MTO1):c.183G>T (p.Arg61=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2080912	NM_012123.4(MTO1):c.187C>T (p.Leu63=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1122268	NM_012123.4(MTO1):c.187C>G (p.Leu63Val)	MTO1 (L63V)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1563663	NM_012123.4(MTO1):c.192C>T (p.Leu64=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1953102	NM_012123.4(MTO1):c.202C>T (p.Arg68Cys)	MTO1 (R68C)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 863267	NM_012123.4(MTO1):c.203G>A (p.Arg68His)	MTO1 (R68H)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1471682	NM_012123.4(MTO1):c.208G>A (p.Asp70Asn)	MTO1 (D70N)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 386075	NM_012123.4(MTO1):c.210C>T (p.Asp70=)	MTO1	Single nucleotide variant (synonymous variant)	MTO1-related condition +2 more	GLikely benign
Select item 2201455	NM_012123.4(MTO1):c.216C>G (p.Ile72Met)	MTO1 (I72M)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 1915750	NM_012123.4(MTO1):c.216C>T (p.Ile72=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2734441	NM_012123.4(MTO1):c.217+19G>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1986220	NM_012123.4(MTO1):c.217+20T>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1264020	NM_012123.4(MTO1):c.217+274C>A	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263000	NM_012123.4(MTO1):c.217+275T>G	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267031	NM_012123.4(MTO1):c.217+277_217+278insTT	MTO1	Insertion (intron variant)	not provided	GBenign
Select item 1275377	NM_012123.4(MTO1):c.217+280_217+281insGA	MTO1	Insertion (intron variant)	not provided	GBenign
Select item 1286262	NM_012123.4(MTO1):c.217+281C>A	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673476	NM_012123.4(MTO1):c.218-38G>A	MTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744346	NM_012123.4(MTO1):c.218-16_218-15insA	MTO1	Insertion (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 2742180	NM_012123.4(MTO1):c.218-15G>T	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2160965	NM_012123.4(MTO1):c.218-14T>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 2919652	NM_012123.4(MTO1):c.218-13C>A	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1596366	NM_012123.4(MTO1):c.218-11A>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign
Select item 1573952	NM_012123.4(MTO1):c.218-8_218-6del	MTO1	Deletion (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GLikely benign

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