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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
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 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 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 138266	NM_139242.4(MTFMT):c.1065G>A (p.Gln355=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 673117	NM_139242.4(MTFMT):c.976-239A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 378176	NM_139242.4(MTFMT):c.885C>T (p.Val295=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 559243	NM_139242.4(MTFMT):c.646-18dup	MTFMT	Duplication (intron variant)	not provided	GBenign
Select item 676155	NM_139242.4(MTFMT):c.646-124del	MTFMT	Deletion (intron variant)	not provided	GBenign
Select item 1182113	NM_139242.4(MTFMT):c.646-182T>C	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210889	NM_139242.4(MTFMT):c.645+99A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386509	NM_139242.4(MTFMT):c.645+19C>G	MTFMT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1307130	NM_139242.4(MTFMT):c.637G>A (p.Ala213Thr)	MTFMT (A213T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic
Select item 378175	NM_139242.4(MTFMT):c.601G>A (p.Ala201Thr)	MTFMT (A201T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 684264	NM_139242.4(MTFMT):c.542+275A>C	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673114	NM_139242.4(MTFMT):c.542+174_542+181dup	MTFMT	Duplication (intron variant)	not provided	GLikely benign
Select item 1247862	NM_139242.4(MTFMT):c.542+49A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254759	NM_139242.4(MTFMT):c.484A>G (p.Thr162Ala)	MTFMT (T162A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310224	NM_139242.4(MTFMT):c.479T>C (p.Ile160Thr)	MTFMT (I160T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291353	NM_139242.4(MTFMT):c.476T>C (p.Val159Ala)	MTFMT (V159A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1800604	NM_139242.4(MTFMT):c.459G>T (p.Trp153Cys)	MTFMT (W153C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 418336	NM_139242.4(MTFMT):c.434T>G (p.Val145Gly)	MTFMT (V145G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1186584	NM_139242.4(MTFMT):c.420-241T>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684261	NM_139242.4(MTFMT):c.420-254A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208531	NM_139242.4(MTFMT):c.420-304C>T	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215836	NM_139242.4(MTFMT):c.420-338C>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188684	NM_139242.4(MTFMT):c.419+113_419+114del	MTFMT	Deletion (intron variant)	not provided	GLikely benign
Select item 738963	NM_139242.4(MTFMT):c.396G>A (p.Glu132=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 382076	NM_139242.4(MTFMT):c.375G>A (p.Ser125=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 418335	NM_139242.4(MTFMT):c.353A>G (p.Tyr118Cys)	MTFMT (Y118C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 391034	NM_139242.4(MTFMT):c.318C>T (p.Pro106=)	MTFMT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1800501	NM_139242.4(MTFMT):c.231A>T (p.Leu77Phe)	MTFMT (L77F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435899	NM_139242.4(MTFMT):c.219_222del (p.Glu74fs)	MTFMT (E74fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 138267	NM_139242.4(MTFMT):c.210-6A>C	MTFMT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1202141	NM_139242.4(MTFMT):c.210-175dup	MTFMT	Duplication (intron variant)	not provided	GLikely benign
Select item 1228247	NM_139242.4(MTFMT):c.209+147C>G	LOC130057308, MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220378	NM_139242.4(MTFMT):c.209+71A>G	LOC130057308, MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188141	NM_139242.4(MTFMT):c.209+62C>T	LOC130057308, MTFMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138270	NM_139242.4(MTFMT):c.186G>C (p.Ala62=)	MTFMT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 440931	NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile)	MTFMT (F58I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 669076	NM_139242.4(MTFMT):c.96C>A (p.Leu32=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 133325	NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter)	MTFMT (Q25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2194227	NM_139242.4(MTFMT):c.44A>G (p.His15Arg)	MTFMT (H15R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1526296	NM_139242.4(MTFMT):c.35C>T (p.Pro12Leu)	MTFMT (P12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1031157	NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr)	MTFMT (P12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 516309	NM_139242.4(MTFMT):c.17G>C (p.Arg6Pro)	MTFMT (R6P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 669075	NM_139242.4(MTFMT):c.16C>G (p.Arg6Gly)	MTFMT (R6G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 374493	NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp)	MTFMT (R6W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 138269	NM_139242.4(MTFMT):c.14T>C (p.Val5Ala)	MTFMT (V5A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1324745	NM_139242.4(MTFMT):c.1A>C (p.Met1Leu)	LOC130057309, MTFMT (M1L)	Single nucleotide variant (missense variant +1 more)	MTFMT-Related Disorders +1 more	GPathogenic/Likely pathogenic
Select item 138268	NM_139242.4(MTFMT):c.-12G>C	LOC130057309, MTFMT	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 1260854	NC_000015.10:g.65029827_65029828insATTTATTTATTTATTTATTT	MTFMT	Insertion	not provided	GBenign
Select item 1237412	NC_000015.10:g.65029827_65029828insATTTATTTATTTATTT	MTFMT	Insertion	not provided	GBenign
Select item 1208302	NC_000015.10:g.65029827_65029828insATTTATTT	MTFMT	Insertion	not provided	GLikely benign
Select item 1208264	NC_000015.10:g.65029827_65029828insATTT	MTFMT	Insertion	not provided	GLikely benign
Select item 1179583	NC_000015.10:g.65029827_65029828insATTTATTTATTT	MTFMT	Insertion	not provided	GBenign
Select item 1283010	NC_000015.10:g.65029828C>A	MTFMT	Single nucleotide variant	not provided	GBenign
Select item 1282848	NC_000015.10:g.65029832ATTT[11]	MTFMT	Microsatellite	not provided	GBenign
Select item 1239198	NC_000015.10:g.65029832ATTT[13]	MTFMT	Microsatellite	not provided	GBenign
Select item 1221122	NC_000015.10:g.65029832ATTT[12]	MTFMT	Microsatellite	not provided	GBenign
Select item 1257483	NC_000015.10:g.65029832ATTT[7]	MTFMT	Microsatellite	not provided	GBenign

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