MTFMT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 151181	GRCh38/hg38 15q22.31(chr15:64671902-65034346)x1	ANKDD1A, LOC125078103 +34 more	Copy number loss	See cases	GUncertain significance
Select item 150666	GRCh38/hg38 15q22.31(chr15:64946408-65006295)x1	ANKDD1A, LOC130057306 +3 more	Copy number loss	See cases	GLikely benign
Select item 1281159	NM_139242.4(MTFMT):c.*293G>C	MTFMT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1218749	NM_139242.4(MTFMT):c.*288G>T	MTFMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1237194	NM_139242.4(MTFMT):c.*99dup	MTFMT	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1178547	NM_139242.4(MTFMT):c.*100G>T	MTFMT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1205642	NM_139242.4(MTFMT):c.*99del	MTFMT	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1194605	NM_139242.4(MTFMT):c.1170G>C (p.Ter390Tyr)	MTFMT	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2579331	NM_139242.4(MTFMT):c.1163T>G (p.Ile388Ser)	MTFMT (I388S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422825	NM_139242.4(MTFMT):c.1158A>G (p.Gln386=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357429	NM_139242.4(MTFMT):c.1148C>G (p.Ala383Gly)	MTFMT (A383G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031156	NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del)	MTFMT (K377del)	Microsatellite (inframe_deletion)	Mitochondrial complex 1 deficiency, nuclear type 27 +2 more	GUncertain significance
Select item 985377	NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln)	MTFMT (K377Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2180067	NM_139242.4(MTFMT):c.1120A>G (p.Thr374Ala)	MTFMT (T374A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 216965	NM_139242.4(MTFMT):c.1116del (p.Pro373fs)	MTFMT (P373fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 15	GLikely pathogenic
Select item 1923957	NM_139242.4(MTFMT):c.1112G>A (p.Arg371Lys)	MTFMT (R371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 506018	NM_139242.4(MTFMT):c.1100_1101del (p.Phe367fs)	MTFMT (F367fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813585	NM_139242.4(MTFMT):c.1094G>A (p.Cys365Tyr)	MTFMT (C365Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 381821	NM_139242.4(MTFMT):c.1092A>G (p.Gln364=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2433812	NM_139242.4(MTFMT):c.1073C>G (p.Ser358Cys)	MTFMT (S358C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980291	NM_139242.4(MTFMT):c.1068A>G (p.Lys356=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 138266	NM_139242.4(MTFMT):c.1065G>A (p.Gln355=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1492324	NM_139242.4(MTFMT):c.1063C>G (p.Gln355Glu)	MTFMT (Q355E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389200	NM_139242.4(MTFMT):c.1049T>A (p.Leu350Ter)	MTFMT (L350*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 813645	NM_139242.4(MTFMT):c.1040A>G (p.Asn347Ser)	MTFMT (N347S)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 1467594	NM_139242.4(MTFMT):c.1035C>G (p.Phe345Leu)	MTFMT (F345L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351497	NM_139242.4(MTFMT):c.1010A>G (p.Lys337Arg)	MTFMT (K337R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 39830	NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)	MTFMT (R332*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 1640250	NM_139242.4(MTFMT):c.976-20del	MTFMT	Deletion (intron variant)	not provided	GLikely benign
Select item 673117	NM_139242.4(MTFMT):c.976-239A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034568	NM_139242.4(MTFMT):c.975+12A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645450	NM_139242.4(MTFMT):c.972C>T (p.Cys324=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2482382	NM_139242.4(MTFMT):c.922C>T (p.Pro308Ser)	MTFMT (P308S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472161	NM_139242.4(MTFMT):c.920T>C (p.Ile307Thr)	MTFMT (I307T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214689	NM_139242.4(MTFMT):c.916C>G (p.Leu306Val)	MTFMT (L306V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1968577	NM_139242.4(MTFMT):c.910C>T (p.Gln304Ter)	MTFMT (Q304*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 138265	NM_139242.4(MTFMT):c.906G>A (p.Thr302=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1216101	NM_139242.4(MTFMT):c.905C>T (p.Thr302Met)	MTFMT (T302M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1405719	NM_139242.4(MTFMT):c.898A>G (p.Lys300Glu)	MTFMT (K300E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214688	NM_139242.4(MTFMT):c.893A>G (p.Asp298Gly)	MTFMT (D298G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 754399	NM_139242.4(MTFMT):c.893-10C>T	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202064	NM_139242.4(MTFMT):c.893-220T>C	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673116	NM_139242.4(MTFMT):c.893-253A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168722	NM_139242.4(MTFMT):c.892+17del	MTFMT	Deletion (intron variant)	not provided	GBenign
Select item 1645460	NM_139242.4(MTFMT):c.892+14A>C	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2614144	NM_139242.4(MTFMT):c.887T>C (p.Leu296Pro)	MTFMT (L296P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 378176	NM_139242.4(MTFMT):c.885C>T (p.Val295=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2987175	NM_139242.4(MTFMT):c.881C>G (p.Ser294Ter)	MTFMT (S294*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 133324	NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn)	MTFMT (S293N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GPathogenic
Select item 3214685	NM_139242.4(MTFMT):c.871G>T (p.Val291Phe)	MTFMT (V291F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2132641	NM_139242.4(MTFMT):c.857T>C (p.Leu286Pro)	MTFMT (L286P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724265	NM_139242.4(MTFMT):c.847A>G (p.Ile283Val)	MTFMT (I283V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1338916	NM_139242.4(MTFMT):c.845C>T (p.Thr282Ile)	MTFMT (T282I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556794	NM_139242.4(MTFMT):c.840G>A (p.Ala280=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580542	NM_139242.4(MTFMT):c.839C>T (p.Ala280Val)	MTFMT (A280V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2570906	NM_139242.4(MTFMT):c.834_835delinsAT (p.Trp278_Met279delinsTer)	MTFMT	Indel (nonsense)	not provided	GPathogenic
Select item 1365559	NM_139242.4(MTFMT):c.834G>A (p.Trp278Ter)	MTFMT (W278*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2086393	NM_139242.4(MTFMT):c.825G>C (p.Gln275His)	MTFMT (Q275H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895967	NM_139242.4(MTFMT):c.819G>A (p.Pro273=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1372777	NM_139242.4(MTFMT):c.817C>G (p.Pro273Ala)	MTFMT (P273A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2252541	NM_139242.4(MTFMT):c.816T>G (p.Ile272Met)	MTFMT (I272M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1291697	NM_139242.4(MTFMT):c.814-143C>T	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255016	NM_139242.4(MTFMT):c.814-204dup	MTFMT	Duplication (intron variant)	not provided	GBenign
Select item 1253177	NM_139242.4(MTFMT):c.814-217G>C	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198463	NM_139242.4(MTFMT):c.814-228dup	MTFMT	Duplication (intron variant)	not provided	GLikely benign
Select item 682639	NM_139242.4(MTFMT):c.814-246G>A	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682638	NM_139242.4(MTFMT):c.814-248G>A	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2433813	NM_139242.4(MTFMT):c.814-4787C>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1199801	NM_139242.4(MTFMT):c.813+244A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684265	NM_139242.4(MTFMT):c.813+191G>C	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2119458	NM_139242.4(MTFMT):c.813+10G>A	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138264	NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)	MTFMT (R266C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1806631	NM_139242.4(MTFMT):c.776A>G (p.Glu259Gly)	MTFMT (E259G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3296604	NM_139242.4(MTFMT):c.772T>A (p.Ser258Thr)	MTFMT (S258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296603	NM_139242.4(MTFMT):c.739G>A (p.Gly247Ser)	MTFMT (G247S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1447304	NM_139242.4(MTFMT):c.736G>T (p.Ala246Ser)	MTFMT (A246S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611974	NM_139242.4(MTFMT):c.732T>A (p.Ile244=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429485	NM_139242.4(MTFMT):c.722-2A>G	MTFMT	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 15 +1 more	GLikely pathogenic
Select item 1668045	NM_139242.4(MTFMT):c.722-4G>A	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629600	NM_139242.4(MTFMT):c.722-13T>C	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289430	NM_139242.4(MTFMT):c.722-116A>T	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218454	NM_139242.4(MTFMT):c.722-188A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191696	NM_139242.4(MTFMT):c.722-271dup	MTFMT	Duplication (intron variant)	not provided	GLikely benign
Select item 1232997	NM_139242.4(MTFMT):c.722-256del	MTFMT	Deletion (intron variant)	not provided	GBenign
Select item 2848652	NM_139242.4(MTFMT):c.721+13T>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384250	NM_139242.4(MTFMT):c.721+11G>A	MTFMT	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512038	NM_139242.4(MTFMT):c.721+3G>A	MTFMT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1972453	NM_139242.4(MTFMT):c.719dup (p.Tyr240Ter)	MTFMT (Y240*)	Duplication (nonsense)	not provided	GPathogenic
Select item 512547	NM_139242.4(MTFMT):c.720C>T (p.Tyr240=)	MTFMT	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1323299	NM_139242.4(MTFMT):c.694C>T (p.Gln232Ter)	MTFMT (Q232*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1402449	NM_139242.4(MTFMT):c.690_693del (p.Arg231fs)	MTFMT (R231fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1393258	NM_139242.4(MTFMT):c.689G>A (p.Gly230Glu)	MTFMT (G230E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993636	NM_139242.4(MTFMT):c.672T>C (p.Pro224=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 418337	NM_139242.4(MTFMT):c.669G>T (p.Leu223Phe)	MTFMT (L223F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 516310	NM_139242.4(MTFMT):c.667T>A (p.Leu223Met)	MTFMT (L223M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1658339	NM_139242.4(MTFMT):c.663A>G (p.Lys221=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899886	NM_139242.4(MTFMT):c.658T>C (p.Leu220=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414074	NM_139242.4(MTFMT):c.653C>T (p.Ser218Leu)	MTFMT (S218L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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