C0268596[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2675134	NM_004453.4(ETFDH):c.34+1G>A	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1481750	NM_004453.4(ETFDH):c.34+5G>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 12027	NM_004453.4(ETFDH):c.36del (p.Tyr13fs)	ETFDH (Y13fs)	Deletion (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
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 1386521	NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)	ETFDH	Deletion (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
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 2675130	NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)	ETFDH (T31fs)	Indel (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675116	NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)	ETFDH (S35*)	Single nucleotide variant (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241429	NM_004453.4(ETFDH):c.119del (p.Pro40fs)	ETFDH (P40fs)	Deletion (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 577047	NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)	ETFDH (R41*)	Single nucleotide variant (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic
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 2675131	NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)	ETFDH (W57*)	Single nucleotide variant (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675127	NM_004453.4(ETFDH):c.175+2T>C	ETFDH	Single nucleotide variant (splice donor variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 948092	NM_004453.4(ETFDH):c.176-2A>T	ETFDH	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675118	NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)	ETFDH (S21P +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2627341	NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)	ETFDH (S21F +2 more)	Single nucleotide variant (missense variant)	ETFDH-related disorder +2 more	GConflicting classifications of pathogenicity
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 1451322	NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)	ETFDH (A37V +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3241432	NM_004453.4(ETFDH):c.260del (p.Leu87fs)	ETFDH (L26fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 972080	NM_004453.4(ETFDH):c.265_266del (p.Gln89fs)	ETFDH (Q28fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1455566	NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)	ETFDH (L43* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 802100	NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)	ETFDH (R38C +2 more)	Single nucleotide variant (missense variant)	Glutaric acidemia IIc +1 more	GPathogenic/Likely pathogenic
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 2675120	NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)	ETFDH (V100E +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675106	NM_004453.4(ETFDH):c.336_345del (p.His112fs)	ETFDH (H112fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1460191	NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)	ETFDH (S68* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 656755	NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)	ETFDH (D83V +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2675121	NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)	ETFDH (W131* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	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 1068253	NM_004453.4(ETFDH):c.406-2A>G	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
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 2675123	NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)	ETFDH (E144* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 235624	NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)	ETFDH (Y154* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 1066228	NM_004453.4(ETFDH):c.488-1G>T	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2682296	NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys)	ETFDH (G109C +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3241435	NM_004453.4(ETFDH):c.521T>C (p.Val174Ala)	ETFDH (V113A +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 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 3241430	NM_004453.4(ETFDH):c.528G>C (p.Leu176Phe)	ETFDH (L115F +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 631941	NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)	ETFDH (W182* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
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 2675126	NM_004453.4(ETFDH):c.577del (p.Glu193fs)	ETFDH (E132fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1284260	NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)	ETFDH (P135fs +2 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3241428	NM_004453.4(ETFDH):c.606+4dup	ETFDH	Duplication (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675119	NM_004453.4(ETFDH):c.606+1G>T	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675108	NM_004453.4(ETFDH):c.607-1G>A	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1473741	NM_004453.4(ETFDH):c.607-1G>T	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2203583	NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)	ETFDH (A154T +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1519714	NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)	ETFDH (D157N +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1177573	NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)	ETFDH (Q222P +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 2675111	NM_004453.4(ETFDH):c.685-1G>A	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675113	NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs)	ETFDH (A168fs +2 more)	Indel (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675133	NM_004453.4(ETFDH):c.723del (p.Thr242fs)	ETFDH (T181fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 2675136	NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)	ETFDH (E185K +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
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 2675099	NM_004453.4(ETFDH):c.783_787del (p.Asp261fs)	ETFDH (D200fs +2 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1028249	NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)	ETFDH (L262F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2675132	NM_004453.4(ETFDH):c.831+1G>A	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 968513	NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)	ETFDH (W279R +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 862045	NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)	ETFDH (W225* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1453914	NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)	ETFDH (V230G +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3241426	NM_004453.4(ETFDH):c.890G>A (p.Trp297Ter)	ETFDH (W236* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241436	NM_004453.4(ETFDH):c.914dup (p.Gly306fs)	ETFDH (G245fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675102	NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)	ETFDH (S246C +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2046332	NM_004453.4(ETFDH):c.972+1del	ETFDH	Deletion (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675110	NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)	ETFDH (Y272C +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 1410339	NM_004453.4(ETFDH):c.1011del (p.Phe337fs)	ETFDH (F276fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675115	NM_004453.4(ETFDH):c.1019del (p.Phe340fs)	ETFDH (F279fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675139	NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs)	ETFDH (K283fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241423	NM_004453.4(ETFDH):c.1083C>G (p.Tyr361Ter)	ETFDH (Y300* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 459962	NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)	ETFDH (G362R +2 more)	Single nucleotide variant (missense variant)	ETFDH-related disorder +1 more	GLikely pathogenic
Select item 2151993	NM_004453.4(ETFDH):c.1117-2A>G	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 838992	NM_004453.4(ETFDH):c.1117-1G>A	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 31601	NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)	ETFDH (L377P +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1075333	NM_004453.4(ETFDH):c.1134del (p.Pro380fs)	ETFDH (P319fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1070989	NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)	ETFDH (F318fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675105	NM_004453.4(ETFDH):c.1166del (p.Pro389fs)	ETFDH (P328fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 645788	NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)	ETFDH (M343T +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1069043	NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)	ETFDH (L348F +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
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 2675135	NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)	ETFDH (N355* +2 more)	Duplication (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241427	NM_004453.4(ETFDH):c.1260dup (p.Glu421Ter)	ETFDH (E360* +2 more)	Duplication (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675104	NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)	ETFDH (S364* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 529449	NM_004453.4(ETFDH):c.1285+1G>A	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1366306	NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)	ETFDH (V397A +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203722	NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)	ETFDH (V451L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2675138	NM_004453.4(ETFDH):c.1361dup (p.Arg455fs)	ETFDH (R394fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241431	NM_004453.4(ETFDH):c.1368_1371del (p.Ser457fs)	ETFDH (S396fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 374577	NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)	ETFDH (P456S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 95072	NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)	ETFDH (P456L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1456462	NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)	ETFDH (Y404* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic

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