Related gene-specific medical variations for Gene (Select 37) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065420	NM_000018.4(ACADVL):c.1876T>C (p.Trp626Arg)	ACADVL (W550R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3059602	NM_001270447.2(ACADVL):c.132-277G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	ACADVL-related condition	GLikely benign
Select item 3021407	NM_000018.4(ACADVL):c.126G>T (p.Gly42=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2995643	NM_000018.4(ACADVL):c.51C>G (p.Leu17=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2983221	NM_000018.4(ACADVL):c.84G>A (p.Leu28=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2980072	NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)	ACADVL, DLG4 (L14V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2959537	NM_000018.4(ACADVL):c.62+21_62+28del	ACADVL, LOC130060113	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2908059	NM_000018.4(ACADVL):c.138+15C>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2893694	NM_000018.4(ACADVL):c.63-12del	ACADVL, LOC130060113	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign
Select item 2830987	NM_000018.4(ACADVL):c.138+16C>A	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2817760	NM_000018.4(ACADVL):c.27C>T (p.Ser9=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2812290	NM_000018.4(ACADVL):c.63-16C>G	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2808113	NM_000018.4(ACADVL):c.63-16C>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2758110	NM_000018.4(ACADVL):c.99C>T (p.Pro33=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2757723	NM_000018.4(ACADVL):c.63-5C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2751868	NM_000018.4(ACADVL):c.24G>A (p.Ala8=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2723035	NM_000018.4(ACADVL):c.69G>A (p.Arg23=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2717071	NM_000018.4(ACADVL):c.63-7C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2695874	NM_000018.4(ACADVL):c.62+2T>C	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2690827	NM_000018.4(ACADVL):c.1962C>T (p.Gly654=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2690505	NM_000018.4(ACADVL):c.1234del (p.Gln412fs)	ACADVL (Q336fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680283	NM_000018.4(ACADVL):c.259_272delinsT (p.Val87fs)	ACADVL (V110fs +3 more)	Indel (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680280	NM_000018.4(ACADVL):c.277+2T>A	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680277	NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)	ACADVL (Q336* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680275	NM_000018.4(ACADVL):c.1678+1G>T	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680267	NM_000018.4(ACADVL):c.105_109del (p.Arg37fs)	ACADVL, LOC130060113 (R37fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680261	NM_000018.4(ACADVL):c.90del (p.Gln30fs)	ACADVL, LOC130060113 (Q30fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680258	NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)	ACADVL (D329H +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680256	NM_000018.4(ACADVL):c.604del (p.Leu202fs)	ACADVL (L126fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680254	NM_000018.4(ACADVL):c.228_231dup (p.Phe78fs)	ACADVL (F101fs +3 more)	Duplication (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680251	NM_000018.4(ACADVL):c.479_486del	ACADVL	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680249	NM_000018.4(ACADVL):c.365dup (p.Asn122fs)	ACADVL (N100fs +3 more)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680245	NM_000018.4(ACADVL):c.298C>T (p.Gln100Ter)	ACADVL (Q100* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2680242	NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)	ACADVL (Y125* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680234	NM_000018.4(ACADVL):c.916_917del (p.Asn306fs)	ACADVL (N230fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680232	NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)	ACADVL (E123fs +3 more)	Microsatellite (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680217	NM_000018.4(ACADVL):c.1417del (p.Ala473fs)	ACADVL (A397fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680215	NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)	ACADVL (A205D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680213	NM_000018.4(ACADVL):c.388_391dup (p.Thr131fs)	ACADVL (T109fs +3 more)	Microsatellite (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680210	NM_000018.4(ACADVL):c.879-2_879-1del	ACADVL	Deletion (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2680125	NM_000018.4(ACADVL):c.1839del (p.Ile614fs)	ACADVL (I538fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2647321	NM_001365.5(DLG4):c.94A>G (p.Ser32Gly)	ACADVL, DLG4 (S32G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2608542	NM_000018.4(ACADVL):c.38A>T (p.Gln13Leu)	ACADVL, DLG4 (Q13L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2577802	NM_001365.5(DLG4):c.119A>T (p.Asp40Val)	ACADVL, DLG4 (D40V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2481262	NM_000018.4(ACADVL):c.35G>A (p.Arg12Gln)	ACADVL, DLG4 (R12Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2438818	NM_000018.4(ACADVL):c.1801A>G (p.Met601Val)	ACADVL (M525V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2438817	NM_000018.4(ACADVL):c.455G>T (p.Gly152Val)	ACADVL (G130V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2438816	NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn)	ACADVL (K223N +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2438815	NM_000018.4(ACADVL):c.753-36C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2438814	NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu)	ACADVL (P451L +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2438813	NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)	ACADVL (G214D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 2438812	NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys)	ACADVL (R508K +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2431848	NM_001365.5(DLG4):c.159+13G>A	ACADVL, DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GUncertain significance
Select item 2428699	NM_001365.5(DLG4):c.159+455G>T	ACADVL, DLG4	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign
Select item 2420025	NM_000018.4(ACADVL):c.138+11G>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2415442	NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)	ACADVL, LOC130060113 (S22L +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2285545	NM_001270447.2(ACADVL):c.131+427CT[2]	ACADVL, DLG4 (Q53fs)	Microsatellite (frameshift variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2170542	NM_000018.4(ACADVL):c.108C>T (p.Ala36=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2163945	NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)	ACADVL, DLG4 (S9T)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2156949	NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)	ACADVL, LOC130060113 (S22P +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2149984	NM_000018.4(ACADVL):c.9G>A (p.Ala3=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2146837	NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)	ACADVL, DLG4 (G20E)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2135798	NM_000018.4(ACADVL):c.57C>G (p.Gly19=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2093923	NM_000018.4(ACADVL):c.62+1G>T	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2093749	NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)	ACADVL, LOC130060113 (Y40C +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2080354	NM_000018.4(ACADVL):c.62+16G>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2079753	NM_000018.4(ACADVL):c.63-16C>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2053220	NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)	ACADVL, DLG4 (G19V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2045321	NM_000018.4(ACADVL):c.9G>C (p.Ala3=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2026735	NM_000018.4(ACADVL):c.81C>G (p.Leu27=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2011730	NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)	ACADVL, DLG4 (Q2*)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1986204	NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)	ACADVL, DLG4 (M6T)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1977648	NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)	ACADVL, DLG4 (M6I)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1969877	NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)	ACADVL, DLG4 (G20*)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1936372	NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)	ACADVL, LOC130060113 (R60Q +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1915930	NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)	ACADVL, DLG4 (A3V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1904339	NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)	ACADVL, LOC130060113 (G43S +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1895388	NM_001365.5(DLG4):c.2T>G (p.Met1Arg)	ACADVL, DLG4 (M1R)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1805210	NM_001321075.3(DLG4):c.10_13del (p.Leu4fs)	ACADVL, DLG4 (L4fs)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 1707706	NM_000018.4(ACADVL):c.103_112dup (p.Arg38fs)	ACADVL, LOC130060113 (R38fs +1 more)	Duplication (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 1679468	NM_000018.4(ACADVL):c.351C>G (p.Asn117Lys)	ACADVL (N117K +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1676574	NM_001365.5(DLG4):c.109G>A (p.Ala37Thr)	ACADVL, DLG4 (A37T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1670026	NM_000018.4(ACADVL):c.138+17T>C	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1644754	NM_000018.4(ACADVL):c.138+10C>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1610031	NM_000018.4(ACADVL):c.63-4A>G	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1606185	NM_000018.4(ACADVL):c.78G>C (p.Ala26=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1601932	NM_000018.4(ACADVL):c.75G>T (p.Thr25=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1582405	NM_000018.4(ACADVL):c.63-17A>T	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1581809	NM_000018.4(ACADVL):c.138+7C>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1565756	NM_000018.4(ACADVL):c.102C>T (p.Gly34=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1553465	NM_000018.4(ACADVL):c.39G>A (p.Gln13=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1538620	NM_000018.4(ACADVL):c.138+10C>A	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1525860	NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)	ACADVL, LOC130060113 (S22W +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1520638	NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser)	ACADVL, LOC130060113 (P31S +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1515846	NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu)	ACADVL, LOC130060113 (R23L +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1488809	NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly)	ACADVL, DLG4 (R5G)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1484230	NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp)	ACADVL, DLG4 (A7D)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1440456	NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs)	ACADVL, LOC130060113 (R60fs +1 more)	Microsatellite (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1412508	NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp)	ACADVL, DLG4 (R12W)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1397245	NM_000018.4(ACADVL):c.138G>A (p.Gln46=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance

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