"GeneDx"[submitter] AND "MTO1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 513495	NM_012123.4(MTO1):c.96C>T (p.Pro32=)	MTO1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 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 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 418339	NM_012123.4(MTO1):c.230G>A (p.Cys77Tyr)	MTO1 (C77Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 414888	NM_012123.4(MTO1):c.252C>T (p.Ile84=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GLikely benign
Select item 2024181	NM_012123.4(MTO1):c.305G>A (p.Arg102His)	MTO1 (R102H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1219753	NM_012123.4(MTO1):c.347G>A (p.Arg116Gln)	MTO1 (R116Q)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GUncertain significance
Select item 1328761	NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer)	MTO1	Microsatellite (nonsense)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1352332	NM_012123.4(MTO1):c.514C>T (p.Arg172Cys)	MTO1 (R172C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 675930	NM_012123.4(MTO1):c.535+52G>A	MTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197992	NM_012123.4(MTO1):c.536-146C>T	MTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230095	NM_012123.4(MTO1):c.536-87AGAT[7]	MTO1	Microsatellite (intron variant)	not provided	GBenign
Select item 1235605	NM_012123.4(MTO1):c.536-87AGAT[5]	MTO1	Microsatellite (intron variant)	not provided	GBenign
Select item 1039509	NM_012123.4(MTO1):c.552A>G (p.Val184=)	MTO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 240849	NM_012123.4(MTO1):c.620C>T (p.Thr207Met)	MTO1 (T207M)	Single nucleotide variant (missense variant)	MTO1-related condition +2 more	GBenign/Likely benign
Select item 1073851	NM_012123.4(MTO1):c.734_735del (p.Lys245fs)	MTO1 (K245fs)	Deletion (frameshift variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 426615	NM_012123.4(MTO1):c.791C>T (p.Pro264Leu)	MTO1 (P264L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1237519	NM_012123.4(MTO1):c.825+84dup	MTO1	Duplication (intron variant)	not provided	GBenign
Select item 2502574	NM_012123.4(MTO1):c.825+150dup	MTO1	Duplication (intron variant)	not provided	GLikely benign
Select item 1243801	NM_012123.4(MTO1):c.825+150del	MTO1	Deletion (intron variant)	not provided	GBenign
Select item 2663509	NM_012123.4(MTO1):c.865C>G (p.Pro289Ala)	MTO1 (P289A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 851199	NM_012123.4(MTO1):c.868A>G (p.Arg290Gly)	MTO1 (R290G)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GUncertain significance
Select item 240850	NM_012123.4(MTO1):c.922A>G (p.Thr308Ala)	MTO1 (T308A)	Single nucleotide variant (missense variant)	MTO1-related condition +2 more	GBenign/Likely benign
Select item 138273	NM_012123.4(MTO1):c.938+7=	MTO1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 420785	NM_012123.4(MTO1):c.939-10del	MTO1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 1723031	NM_012123.4(MTO1):c.939-6T>G	MTO1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 697292	NM_012123.4(MTO1):c.961A>G (p.Lys321Glu)	MTO1 (K321E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 473197	NM_012123.4(MTO1):c.983G>A (p.Arg328His)	MTO1 (R328H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389731	NM_012123.4(MTO1):c.1044G>T (p.Gly348=)	MTO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 240845	NM_012123.4(MTO1):c.1051A>G (p.Met351Val)	MTO1 (M351V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 516313	NM_012123.4(MTO1):c.1059A>G (p.Leu353=)	MTO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 414889	NM_012123.4(MTO1):c.1062A>C (p.Pro354=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GLikely benign
Select item 1220428	NM_012123.4(MTO1):c.1066G>A (p.Glu356Lys)	MTO1 (E356K)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GUncertain significance
Select item 414886	NM_012123.4(MTO1):c.1086C>G (p.Ile362Met)	MTO1 (I362M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1320683	NM_012123.4(MTO1):c.1129+168C>T	MTO1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1204352	NM_012123.4(MTO1):c.1130-147C>G	MTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138274	NM_012123.4(MTO1):c.1180T>C (p.Leu394=)	MTO1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1305379	NM_012123.4(MTO1):c.1259A>G (p.Gln420Arg)	MTO1 (Q420R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296468	NM_012123.4(MTO1):c.1260+185_1260+188del	MTO1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1296254	NM_012123.4(MTO1):c.1260+187_1260+188del	MTO1	Deletion (intron variant)	not provided	GBenign
Select item 1232281	NM_012123.4(MTO1):c.1260+188del	MTO1	Deletion (intron variant)	not provided	GBenign
Select item 1227987	NM_012123.4(MTO1):c.1260+184_1260+188del	MTO1	Deletion (intron variant)	not provided	GBenign
Select item 1223365	NM_012123.4(MTO1):c.1260+186_1260+188del	MTO1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1192982	NM_012123.4(MTO1):c.1260+183_1260+188del	MTO1	Deletion (intron variant)	not provided	GLikely benign
Select item 1214290	NM_012123.4(MTO1):c.1260+258del	MTO1 (L443fs)	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 1191797	NM_012123.4(MTO1):c.1260+453A>G	MTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678137	NM_012123.4(MTO1):c.1261-218G>A	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392499	NM_012123.4(MTO1):c.1263T>C (p.Gly421=)	MTO1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 35496	NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	MTO1 (A428T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial oxidative phosphorylation disorder +3 more	GPathogenic/Likely pathogenic
Select item 1486879	NM_012123.4(MTO1):c.1301G>A (p.Arg434His)	MTO1 (R434H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389187	NM_012123.4(MTO1):c.1308T>C (p.Pro436=)	MTO1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 941436	NM_012123.4(MTO1):c.1340T>C (p.Ile447Thr)	MTO1 (I447T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138275	NM_012123.4(MTO1):c.1368T>C (p.Thr456=)	MTO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 70512	NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)	MTO1 (R489L +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1708829	NM_012123.4(MTO1):c.1417C>T (p.Arg473Cys)	MTO1 (R473C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 408272	NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)	MTO1 (R484W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 488996	NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter)	MTO1 (R488* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1206821	NM_012123.4(MTO1):c.1465+52A>G	MTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675929	NM_012123.4(MTO1):c.1466-34A>G	MTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 569553	NM_012123.4(MTO1):c.1480G>A (p.Gly494Ser)	MTO1 (G494S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2430574	NM_012123.4(MTO1):c.1486G>A (p.Val496Met)	MTO1 (V496M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661995	NM_012123.4(MTO1):c.1526C>A (p.Ser509Tyr)	MTO1 (S509Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240847	NM_012123.4(MTO1):c.1549G>A (p.Val517Met)	MTO1 (V517M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1331332	NM_012123.4(MTO1):c.1619G>T (p.Ser540Ile)	MTO1 (S540I +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GUncertain significance
Select item 513813	NM_012123.4(MTO1):c.1637+12dup	MTO1	Duplication (intron variant)	not specified	GLikely benign
Select item 512565	NM_012123.4(MTO1):c.1637+16A>G	MTO1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1291415	NM_012123.4(MTO1):c.1637+59C>A	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671625	NM_012123.4(MTO1):c.1637+79T>G	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678519	NM_012123.4(MTO1):c.1637+202C>A	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257484	NM_012123.4(MTO1):c.1638-319G>A	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682640	NM_012123.4(MTO1):c.1638-281A>T	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291360	NM_012123.4(MTO1):c.1638-144C>T	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270647	NM_012123.4(MTO1):c.1638-117_1638-116del	MTO1	Deletion (intron variant)	not provided	GBenign
Select item 1269549	NM_012123.4(MTO1):c.1638-116del	MTO1	Deletion (intron variant)	not provided	GBenign
Select item 650584	NM_012123.4(MTO1):c.1702C>G (p.Pro568Ala)	MTO1 (P568A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 671626	NM_012123.4(MTO1):c.1756+85A>C	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678514	NM_012123.4(MTO1):c.1756+198T>C	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273932	NM_012123.4(MTO1):c.1756+303T>C	MTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674143	NM_012123.4(MTO1):c.1756+324G>A	MTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311981	NM_012123.4(MTO1):c.1757-3C>T	MTO1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 138276	NM_012123.4(MTO1):c.1785A>G (p.Gln595=)	EEF1A1, MTO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2662813	NM_012123.4(MTO1):c.1886G>A (p.Arg629Gln)	MTO1 (R629Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138277	NM_012123.4(MTO1):c.1894C>T (p.Leu632=)	MTO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

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