ClinVar for MedGen (Select 75696) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896654	NM_004453.4(ETFDH):c.236C>G (p.Ala79Gly)	ETFDH (A18G +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3891443	NM_004453.4(ETFDH):c.7G>C (p.Val3Leu)	ETFDH (V3L)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3773788	NM_004453.4(ETFDH):c.443G>A (p.Gly148Glu)	ETFDH (G101E +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3766789	NM_000126.4(ETFA):c.186+5G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3731551	NM_004453.4(ETFDH):c.1469-1G>A	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3730114	NM_000126.4(ETFA):c.626G>A (p.Arg209Gln)	ETFA (R209Q +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3728291	NM_004453.4(ETFDH):c.1253_1254insTT (p.Leu418_Thr419insTer)	ETFDH	Insertion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3727808	NM_001985.3(ETFB):c.598-11C>T	ETFB	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3724067	NM_000126.4(ETFA):c.373_376del (p.Ala125fs)	ETFA (A125fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3723665	NM_001985.3(ETFB):c.81del (p.Gly28fs)	ETFB (G119fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3720599	NM_004453.4(ETFDH):c.405+1G>A	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3715516	NM_001985.3(ETFB):c.58-7T>C	ETFB	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3715319	NM_004453.4(ETFDH):c.1152A>G (p.Leu384=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3714522	NM_004453.4(ETFDH):c.685-15G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3709924	NM_001985.3(ETFB):c.516C>T (p.Thr172=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3704285	NM_004453.4(ETFDH):c.684+20dup	ETFDH	Duplication (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3701466	NM_001985.3(ETFB):c.237G>C (p.Leu79=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3700811	NM_000126.4(ETFA):c.817-15C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3700485	NM_004453.4(ETFDH):c.456_457del (p.Lys153fs)	ETFDH (K153fs +2 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3690996	NM_004453.4(ETFDH):c.1723G>A (p.Asp575Asn)	ETFDH (D528N +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3690995	NM_004453.4(ETFDH):c.1636G>A (p.Val546Ile)	ETFDH (V499I +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3690580	NM_001985.3(ETFB):c.376-10C>T	ETFB	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3686096	NM_000126.4(ETFA):c.381T>G (p.Leu127=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3681543	NM_001985.3(ETFB):c.354C>T (p.Asp118=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3680091	NM_004453.4(ETFDH):c.972+9T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3677738	NM_001985.3(ETFB):c.306G>T (p.Leu102=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3674135	NM_004453.4(ETFDH):c.34+2T>A	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3673586	NM_004453.4(ETFDH):c.645C>T (p.Ala215=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3672795	NM_004453.4(ETFDH):c.176-19G>A	ETFDH	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3672599	NM_000126.4(ETFA):c.137G>A (p.Arg46His)	ETFA (R46H)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3663950	NM_000126.4(ETFA):c.269-17A>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3660413	NM_004453.4(ETFDH):c.1691-9A>G	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3660235	NM_000126.4(ETFA):c.665-19T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3659921	NM_004453.4(ETFDH):c.813C>A (p.Tyr271Ter)	ETFDH (Y224* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3659610	NM_004453.4(ETFDH):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATCCAGGTGCTTTT (p.Lys125fs)	ETFDH (K125fs +2 more)	Insertion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3658550	NM_001985.3(ETFB):c.438+10G>C	ETFB	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3656473	NM_001985.3(ETFB):c.281C>A (p.Ala94Glu)	ETFB (A185E +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3649815	NM_001985.3(ETFB):c.297G>C (p.Leu99Phe)	ETFB (L190F +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3649515	NM_004453.4(ETFDH):c.977G>A (p.Gly326Asp)	ETFDH (G279D +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3647161	NM_001985.3(ETFB):c.633T>G (p.Pro211=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3646267	NM_004453.4(ETFDH):c.928dup (p.Tyr310fs)	ETFDH (Y249fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3644962	NM_001985.3(ETFB):c.444A>G (p.Thr148=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3644788	NM_000126.4(ETFA):c.276G>A (p.Leu92=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3643944	NM_001985.3(ETFB):c.15C>G (p.Arg5=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3642969	NM_000126.4(ETFA):c.817-7A>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3642543	NM_000126.4(ETFA):c.499del (p.Ser167fs)	ETFA (S167fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3642435	NM_004453.4(ETFDH):c.1710T>C (p.Pro570=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3641987	NM_000126.4(ETFA):c.563-12T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3641064	NM_000126.4(ETFA):c.817-9T>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3639868	NM_000126.4(ETFA):c.336A>G (p.Ala112=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3639855	NM_004453.4(ETFDH):c.392G>A (p.Trp131Ter)	ETFDH (W131* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3639708	NM_004453.4(ETFDH):c.685-18C>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3638959	NM_004453.4(ETFDH):c.694G>T (p.Glu232Ter)	ETFDH (E185* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3638393	NM_004453.4(ETFDH):c.1469-12A>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3638016	NM_004453.4(ETFDH):c.234T>C (p.Pro78=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3637526	NM_001985.3(ETFB):c.217-9C>G	ETFB	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3636256	NM_000126.4(ETFA):c.452-12del	ETFA	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3630521	NM_004453.4(ETFDH):c.607-1G>C	ETFDH	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3630499	NM_004453.4(ETFDH):c.1469-7G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3628421	NM_001985.3(ETFB):c.603C>T (p.Ala201=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3626402	NM_004453.4(ETFDH):c.304C>G (p.Leu102Val)	ETFDH (L102V +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3625173	NM_001985.3(ETFB):c.426T>C (p.Leu142=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3623595	NM_001985.3(ETFB):c.598-8A>G	ETFB	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3620521	NM_000126.4(ETFA):c.869T>G (p.Met290Arg)	ETFA (M241R +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3619966	NM_004453.4(ETFDH):c.1209A>G (p.Ala403=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3619124	NM_004453.4(ETFDH):c.1203C>T (p.His401=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3617969	NM_004453.4(ETFDH):c.918A>G (p.Gly306=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3609312	NM_004453.4(ETFDH):c.1214A>G (p.Lys405Arg)	ETFDH (K344R +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3609135	NM_004453.4(ETFDH):c.1842C>A (p.Tyr614Ter)	ETFDH (Y553* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3604872	NM_004453.4(ETFDH):c.973-16A>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3603388	NM_004453.4(ETFDH):c.1589A>C (p.Glu530Ala)	ETFDH (E469A +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3590435	NM_004453.4(ETFDH):c.1690+1G>C	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3590433	NM_004453.4(ETFDH):c.1437_1438del (p.Gly480fs)	ETFDH (G419fs +2 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3590432	NM_004453.4(ETFDH):c.1394_1395del (p.Tyr465fs)	ETFDH (Y404fs +2 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3590430	NM_004453.4(ETFDH):c.901del (p.Arg301fs)	ETFDH (R240fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3590429	NM_004453.4(ETFDH):c.789_790dup (p.Ala264fs)	ETFDH (A203fs +2 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3590428	NM_004453.4(ETFDH):c.684+2T>C	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3590427	NM_004453.4(ETFDH):c.684G>T (p.Lys228Asn)	ETFDH (K167N +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3590423	NM_004453.4(ETFDH):c.20_21delinsC (p.Lys7fs)	ETFDH (K7fs)	Indel (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3584066	NM_001985.3(ETFB):c.214C>T (p.Gln72Ter)	ETFB (Q163* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3584065	NM_001985.3(ETFB):c.216+2T>C	ETFB	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3584064	NM_001985.3(ETFB):c.632del (p.Pro211fs)	ETFB (P302fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3584063	NM_001985.3(ETFB):c.694C>T (p.Gln232Ter)	ETFB (Q232* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3577725	NM_000126.4(ETFA):c.1A>G (p.Met1Val)	ETFA (M1V)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3577724	NM_000126.4(ETFA):c.422del (p.Pro141fs)	ETFA (P92fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3577723	NM_000126.4(ETFA):c.510_511del (p.Thr171fs)	ETFA (T171fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3577722	NM_000126.4(ETFA):c.562+1G>T	ETFA	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3577720	NM_000126.4(ETFA):c.629dup (p.Glu211fs)	ETFA (E211fs +1 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3392498	NM_004453.4(ETFDH):c.891G>A (p.Trp297Ter)	ETFDH (W236* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3375335	NM_004453.4(ETFDH):c.587C>A (p.Pro196His)	ETFDH (P135H +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3362428	NM_000126.4(ETFA):c.883-1_885del	ETFA	Deletion (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3358868	NM_000126.4(ETFA):c.964-1G>A	ETFA	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3336595	NM_004453.4(ETFDH):c.1448C>A (p.Pro483Gln)	ETFDH (P422Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3251817	NM_004453.4(ETFDH):c.578A>C (p.Glu193Ala)	ETFDH (E132A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3248432	NC_000019.9:g.(?_51848465)_(51850332_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248431	NC_000019.9:g.(?_51850134)_(51869580_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248430	NC_000019.9:g.(?_51869504)_(51869580_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
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

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