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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 1283566	NC_000004.12:g.158671796G>T	C4orf46, ETFDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1198029	NC_000004.12:g.158671871G>C	C4orf46, ETFDH	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1212006	NC_000004.12:g.158672031A>G	C4orf46, ETFDH	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1194633	NC_000004.12:g.158672047A>G	C4orf46, ETFDH	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 347952	NM_004453.3(ETFDH):c.-239G>A	ETFDH	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 512971	NM_004453.4(ETFDH):c.-41CCT[1]	ETFDH	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 203709	NM_004453.4(ETFDH):c.22C>G (p.Leu8Val)	ETFDH (L8V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 990927	NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)	ETFDH (S9T)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2444725	NM_004453.4(ETFDH):c.32T>C (p.Leu11Pro)	ETFDH (L11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 576973	NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)	ETFDH (A12P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 515745	NM_004453.4(ETFDH):c.34+7G>A	ETFDH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1207294	NM_004453.4(ETFDH):c.34+57C>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193295	NM_004453.4(ETFDH):c.34+146T>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216288	NM_004453.4(ETFDH):c.34+266A>G	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 203710	NM_004453.4(ETFDH):c.38A>G (p.Tyr13Cys)	ETFDH (Y13C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 195222	NM_004453.4(ETFDH):c.51dup (p.Ala18fs)	ETFDH (A18fs)	Duplication (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 167040	NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	ETFDH (P27S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203711	NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)	ETFDH (T31A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 95075	NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)	ETFDH (T31I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1568040	NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)	ETFDH (R41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1019560	NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)	ETFDH (R51Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488689	NM_004453.4(ETFDH):c.171G>A (p.Trp57Ter)	ETFDH (W57*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 203726	NM_004453.4(ETFDH):c.175+1G>C	ETFDH	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 516057	NM_004453.4(ETFDH):c.175+3A>G	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1193502	NM_004453.4(ETFDH):c.175+98T>C	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208124	NM_004453.4(ETFDH):c.175+206dup	ETFDH	Duplication (intron variant)	not provided	GLikely benign
Select item 676122	NM_004453.4(ETFDH):c.176-237A>G	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432314	NM_004453.4(ETFDH):c.186G>C (p.Met62Ile)	ETFDH (M62I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 203731	NM_004453.4(ETFDH):c.210TGT[1] (p.Val72del)	ETFDH (V72del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 12028	NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	ETFDH (A84T +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 203727	NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)	ETFDH (L41fs +2 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1066888	NM_004453.4(ETFDH):c.296G>A (p.Arg99His)	ETFDH (R38H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504230	NM_004453.4(ETFDH):c.324_330delinsTCCT (p.Gln108_Gly110delinsHisPro)	ETFDH	Indel (inframe_indel)	not provided	GLikely pathogenic
Select item 203712	NM_004453.4(ETFDH):c.380T>C (p.Leu127Pro)	ETFDH (L127P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 167041	NM_004453.4(ETFDH):c.381C>T (p.Leu127=)	ETFDH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 449387	NM_004453.4(ETFDH):c.383T>C (p.Phe128Ser)	ETFDH (F128S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1028248	NM_004453.4(ETFDH):c.405+3A>G	ETFDH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203730	NM_004453.4(ETFDH):c.405+3A>T	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1197096	NM_004453.4(ETFDH):c.405+118dup	ETFDH	Duplication (intron variant)	not provided	GLikely benign
Select item 1201210	NM_004453.4(ETFDH):c.405+118del	ETFDH	Deletion (intron variant)	not provided	GLikely benign
Select item 1210465	NM_004453.4(ETFDH):c.405+173G>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203404	NM_004453.4(ETFDH):c.406-185dup	ETFDH	Duplication (intron variant)	not provided	GLikely benign
Select item 1227127	NM_004453.4(ETFDH):c.406-185del	ETFDH	Deletion (intron variant)	not provided	GBenign
Select item 1066848	NM_004453.4(ETFDH):c.406-1G>A	ETFDH	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 431962	NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)	ETFDH (L138R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 511397	NM_004453.4(ETFDH):c.441T>C (p.Phe147=)	ETFDH	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 427131	NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)	ETFDH (R155G +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203728	NM_004453.4(ETFDH):c.485_487+14delinsT	ETFDH	Indel (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 678342	NM_004453.4(ETFDH):c.487+50G>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2501539	NM_004453.4(ETFDH):c.518T>C (p.Ile173Thr)	ETFDH (I112T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418182	NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)	ETFDH (R175C +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203713	NM_004453.4(ETFDH):c.524G>C (p.Arg175Pro)	ETFDH (R175P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31576	NM_004453.4(ETFDH):c.524G>A (p.Arg175His)	ETFDH (R175H +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 418183	NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)	ETFDH (A187V +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203714	NM_004453.4(ETFDH):c.568C>A (p.Leu190Ile)	ETFDH (L190I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203715	NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)	ETFDH (G191D +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 681403	NM_004453.4(ETFDH):c.606+10GTTTT[2]	ETFDH	Microsatellite (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1195526	NM_004453.4(ETFDH):c.606+121A>G	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193733	NM_004453.4(ETFDH):c.607-289G>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189608	NM_004453.4(ETFDH):c.607-12dup	ETFDH	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 381392	NM_004453.4(ETFDH):c.627T>C (p.Gly209=)	ETFDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 515338	NM_004453.4(ETFDH):c.678A>G (p.Ala226=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 137232	NM_004453.4(ETFDH):c.684+13A>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1212942	NM_004453.4(ETFDH):c.684+265AAG[5]	ETFDH	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1210569	NM_004453.4(ETFDH):c.684+266_684+267insAGAA	ETFDH	Insertion (intron variant)	not provided	GLikely benign
Select item 683984	NM_004453.4(ETFDH):c.684+265AAG[4]	ETFDH	Microsatellite (intron variant)	not provided	GBenign
Select item 1201609	NM_004453.4(ETFDH):c.685-203A>G	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303471	NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)	ETFDH (I182T +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203716	NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)	ETFDH (A245T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 203717	NM_004453.4(ETFDH):c.739G>C (p.Gly247Arg)	ETFDH (G247R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666174	NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)	ETFDH (Y196C +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 848248	NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)	ETFDH (G211R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 431846	NM_004453.4(ETFDH):c.829G>A (p.Glu277Lys)	ETFDH (E277K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 576073	NM_004453.4(ETFDH):c.831+4T>C	ETFDH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 680123	NM_004453.4(ETFDH):c.831+224C>T	ETFDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215758	NM_004453.4(ETFDH):c.831+294G>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1693054	NM_004453.4(ETFDH):c.832-3del	ETFDH	Deletion (intron variant)	not provided	GLikely benign
Select item 386922	NM_004453.4(ETFDH):c.832-15T>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137233	NM_004453.4(ETFDH):c.832-10T>G	ETFDH	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 511012	NM_004453.4(ETFDH):c.846T>C (p.Asp282=)	ETFDH	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 203706	NM_004453.4(ETFDH):c.860A>G (p.Lys287Arg)	ETFDH (K287R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 510875	NM_004453.4(ETFDH):c.888T>C (p.Gly296=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 203718	NM_004453.4(ETFDH):c.929A>G (p.Tyr310Cys)	ETFDH (Y310C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1174038	NM_004453.4(ETFDH):c.973-104A>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 1267926	NM_004453.4(ETFDH):c.973-8T>C	ETFDH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 199094	NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)	ETFDH (L334P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 429351	NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)	ETFDH (F340Y +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 708396	NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)	ETFDH (R289Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203720	NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys)	ETFDH (R358K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203721	NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)	ETFDH (A360V +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 137234	NM_004453.4(ETFDH):c.1080A>G (p.Ala360=)	ETFDH	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1222673	NM_004453.4(ETFDH):c.1116+72T>C	ETFDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270625	NM_004453.4(ETFDH):c.1116+141A>G	ETFDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211352	NM_004453.4(ETFDH):c.1117-284C>G	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187664	NM_004453.4(ETFDH):c.1117-232G>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676334	NM_004453.4(ETFDH):c.1117-112A>G	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 95071	NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)	ETFDH (E412* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1177947	NM_004453.4(ETFDH):c.1286-258G>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669581	NM_004453.4(ETFDH):c.1286-154C>T	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign

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