Related gene-specific medical variations for Gene (Select 2110) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246605	NC_000004.11:g.(?_159601609)_(159606381_?)dup	ETFDH	Duplication	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3246604	NC_000004.11:g.(?_159605724)_(159611597_?)del	ETFDH	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3246603	NC_000004.11:g.(?_159593609)_(159611597_?)del	ETFDH	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3246602	NC_000004.11:g.(?_159593609)_(159603596_?)del	ETFDH	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
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 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 3241434	NM_004453.4(ETFDH):c.1471dup (p.Ser491fs)	ETFDH (S430fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241433	NM_004453.4(ETFDH):c.1427G>A (p.Trp476Ter)	ETFDH (W415* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely 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 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 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 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 3241428	NM_004453.4(ETFDH):c.606+4dup	ETFDH	Duplication (splice donor variant)	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 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 3241425	NM_004453.4(ETFDH):c.1750C>T (p.Gln584Ter)	ETFDH (Q523* +2 more)	Single nucleotide variant (nonsense)	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 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 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 2675137	NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)	ETFDH (E506K +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 2675135	NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)	ETFDH (N355* +2 more)	Duplication (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely 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 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 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 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 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 2675129	NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer)	ETFDH	Microsatellite (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675128	NM_004453.4(ETFDH):c.1461del (p.Lys487fs)	ETFDH (K426fs +2 more)	Deletion (frameshift variant)	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 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 2675125	NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs)	ETFDH (Y492fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675124	NM_004453.4(ETFDH):c.1417dup (p.Ile473fs)	ETFDH (I412fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675122	NM_004453.4(ETFDH):c.1691-3C>G	ETFDH	Single nucleotide variant (intron 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 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 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 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 2675117	NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)	ETFDH (Q538* +2 more)	Single nucleotide variant (nonsense)	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 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 2675114	NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs)	ETFDH (P422fs +2 more)	Deletion (frameshift 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 2675112	NM_004453.4(ETFDH):c.1646del (p.Asn549fs)	ETFDH (N488fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely 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 2675109	NM_004453.4(ETFDH):c.1457dup (p.Lys487fs)	ETFDH (K426fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2675107	NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)	ETFDH (Q512* +2 more)	Single nucleotide variant (nonsense)	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 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 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 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 2675101	NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)	ETFDH (T424S +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 2441304	NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)	ETFDH	Deletion (inframe_deletion)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2440111	NM_004453.4(ETFDH):c.1471_1473delinsCAAAAGCC (p.Ser491fs)	ETFDH (S430fs +2 more)	Indel (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1322836	NM_004453.4(ETFDH):c.398_402del (p.Glu133fs)	ETFDH (E133fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 991941	NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu)	ETFDH	Single nucleotide variant (stop lost)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 991936	NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu)	ETFDH (F499L +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 990935	NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr)	ETFDH (S381T +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 990932	NM_004453.4(ETFDH):c.1116+6T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 990928	NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe)	ETFDH (I21F)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 974731	NC_000004.12:g.158674880_158700204del	ETFDH	Deletion	Megacolon	GUncertain significance
Select item 809698	NM_004453.4(ETFDH):c.1571T>C (p.Leu524Pro)	ETFDH (L477P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809697	NM_004453.4(ETFDH):c.241C>T (p.Leu81Phe)	ETFDH (L34F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591814	NM_004453.4(ETFDH):c.1658A>G (p.Tyr553Cys)	ETFDH (Y553C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591337	NM_004453.4(ETFDH):c.841A>T (p.Ile281Phe)	ETFDH (I281F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591273	NM_004453.4(ETFDH):c.986A>G (p.Tyr329Cys)	ETFDH (Y329C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549696	NM_004453.4(ETFDH):c.523_524insAGCA (p.Arg175fs)	ETFDH (R128fs +2 more)	Insertion (frameshift variant)	Distal spinal muscular atrophy	GUncertain significance

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Links from Gene

Items: 68