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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359640	NM_001365.5(DLG4):c.125T>G (p.Leu42Arg)	ACADVL, DLG4 (L42R)	Single nucleotide variant (missense variant +2 more)	not provided	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 1311690	NM_001365.5(DLG4):c.67G>T (p.Ala23Ser)	ACADVL, DLG4 (A23S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365149	NM_001365.5(DLG4):c.25A>G (p.Arg9Gly)	ACADVL, DLG4 (R9G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1246043	NM_001270447.2(ACADVL):c.132-485G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1205310	NM_001270447.2(ACADVL):c.132-431C>T	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1214579	NM_001270447.2(ACADVL):c.132-383A>G	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 166637	NM_000018.3(ACADVL):c.-63_-49dup	ACADVL, DLG4	Duplication (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 1247632	NM_000018.3(ACADVL):c.-49_-48insGGGCGTTCAGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1271648	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCTGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1227093	NM_000018.3(ACADVL):c.-51_-49CG[2][1]	ACADVL, DLG4	Microsatellite (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1298148	NM_000018.3(ACADVL):c.-49_-48insGGGCGGGCAGGACGG	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1244924	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGA	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 553169	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324981	NM_000018.4(ACADVL):c.-36A>G	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 21022	NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)	ACADVL, DLG4 (L17F)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 432072	NM_000018.4(ACADVL):c.62+6T>C	ACADVL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 166638	NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	ACADVL, LOC130060113 (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 21023	NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)	ACADVL, LOC130060113 (R23Q +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 655628	NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)	ACADVL, LOC130060113 (L27F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 21015	NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp)	ACADVL, LOC130060113 (G43D +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 449935	NM_000018.4(ACADVL):c.138+2dup	ACADVL, LOC130060113	Duplication (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 388142	NM_000018.4(ACADVL):c.138+10C>G	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1234395	NM_000018.4(ACADVL):c.138+99T>G	ACADVL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 38798	NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu)	ACADVL (P65L +1 more)	Single nucleotide variant (missense variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 1092689	NM_000018.4(ACADVL):c.205-8_205-7delinsGC	ACADVL	Indel (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203588	NM_000018.4(ACADVL):c.210dup (p.Lys71Ter)	ACADVL (K71* +2 more)	Duplication (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 254699	NM_000018.4(ACADVL):c.277+6G>A	ACADVL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1678835	NM_000018.4(ACADVL):c.278-31_278-18del	ACADVL	Deletion (intron variant)	not provided +2 more	GLikely benign
Select item 579856	NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)	ACADVL (E96K +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 932876	NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)	ACADVL (Q76fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371068	NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	ACADVL (K81fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 254700	NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)	ACADVL (K103R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 373614	NM_000018.4(ACADVL):c.316_325del (p.Val106fs)	ACADVL (V106fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 1624	NM_000018.4(ACADVL):c.343del	ACADVL	Deletion (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 376917	NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	ACADVL (N122D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 429291	NM_000018.4(ACADVL):c.368A>G (p.Asp123Gly)	ACADVL (D123G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389353	NM_000018.4(ACADVL):c.369C>T (p.Asp123=)	ACADVL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1626	NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	ACADVL (E130del +3 more)	Microsatellite (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 2044115	NM_000018.4(ACADVL):c.403G>T (p.Gly135Cys)	ACADVL (G135C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 422995	NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	ACADVL (G143fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 389733	NM_000018.4(ACADVL):c.477+12C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 386274	NM_000018.4(ACADVL):c.477+17G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 932885	NM_000018.4(ACADVL):c.477+50A>T	ACADVL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1261225	NM_000018.4(ACADVL):c.477+129G>A	ACADVL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204356	NM_000018.4(ACADVL):c.478-196A>C	ACADVL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222206	NM_000018.4(ACADVL):c.478-169C>A	ACADVL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248482	NM_000018.4(ACADVL):c.478-92_478-76del	ACADVL	Microsatellite (intron variant)	not provided	GBenign
Select item 676456	NM_000018.4(ACADVL):c.478-106del	ACADVL	Deletion (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 1266455	NM_000018.4(ACADVL):c.478-104_478-89del	ACADVL	Deletion (intron variant)	not provided	GBenign
Select item 1297927	NM_000018.4(ACADVL):c.478-66A>C	ACADVL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 254701	NM_000018.4(ACADVL):c.478-22_478-21del	ACADVL	Deletion (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 324987	NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	ACADVL (A161T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203572	NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)	ACADVL (A161V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 617956	NM_000018.4(ACADVL):c.485G>A (p.Arg162His)	ACADVL (R162H +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203597	NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)	ACADVL	Deletion (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 92286	NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	ACADVL (V174M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 430156	NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)	ACADVL (L178P +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 166641	NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	ACADVL (A180T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 203595	NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	ACADVL (G185S +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 450792	NM_000018.4(ACADVL):c.554G>C (p.Gly185Ala)	ACADVL (G185A +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 432271	NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs)	ACADVL (G117fs +3 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 432108	NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)	ACADVL (G193D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 1306101	NM_000018.4(ACADVL):c.581C>T (p.Thr194Ile)	ACADVL (T118I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966547	NM_000018.4(ACADVL):c.587C>T (p.Ala196Val)	ACADVL (A196V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 422932	NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs)	ACADVL (Y125fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 92288	NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	ACADVL (L202P +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 516249	NM_000018.4(ACADVL):c.622+12C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 1264234	NM_000018.4(ACADVL):c.623-55G>A	ACADVL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 166642	NM_000018.4(ACADVL):c.623-8C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 324988	NM_000018.4(ACADVL):c.636C>T (p.Ala212=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 541723	NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)	ACADVL (F214V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 370717	NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	ACADVL	Deletion (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 581080	NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	ACADVL (I152fs +3 more)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 383052	NM_000018.4(ACADVL):c.663C>T (p.Ser221=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign FDA Recognized database
Select item 1208304	NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)	ACADVL (G200R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 92289	NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	ACADVL (G222R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 282922	NM_000018.4(ACADVL):c.678C>A (p.Ala226=)	ACADVL	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188884	NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	ACADVL (R229* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 136261	NM_000018.4(ACADVL):c.693T>A (p.Ser231=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 1303120	NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)	ACADVL (A156T +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1312943	NM_000018.4(ACADVL):c.732T>A (p.Asn244Lys)	ACADVL (N168K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474903	NM_000018.4(ACADVL):c.753-27C>T	ACADVL	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92290	NM_000018.4(ACADVL):c.753-2A>C	ACADVL	Single nucleotide variant (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 254704	NM_000018.4(ACADVL):c.756T>C (p.Asn252=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 385582	NM_000018.4(ACADVL):c.759G>A (p.Gly253=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency +2 more	GLikely benign
Select item 21024	NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	ACADVL (T260M +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 706483	NM_000018.4(ACADVL):c.780G>A (p.Thr260=)	ACADVL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 203574	NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)	ACADVL (G273A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 203589	NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	ACADVL (E277del +3 more)	Deletion (inframe_deletion)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 281042	NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)	ACADVL (K278del +3 more)	Microsatellite (inframe_deletion)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 21025	NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	ACADVL (V283A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 932756	NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)	ACADVL (E209D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 681960	NM_000018.4(ACADVL):c.855G>A (p.Glu285=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 474904	NM_000018.4(ACADVL):c.864C>T (p.Phe288=)	ACADVL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 291163	NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	ACADVL (I215fs +3 more)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 370981	NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	ACADVL (G289R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 1193727	NM_000018.4(ACADVL):c.879-159C>G	ACADVL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276982	NM_000018.4(ACADVL):c.879-81C>T	ACADVL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203085	NM_000018.4(ACADVL):c.879-79T>C	ACADVL	Single nucleotide variant (intron variant)	not provided	GLikely benign

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