ClinVar for MedGen (Select 854382) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3766790	NM_000018.4(ACADVL):c.342+2dup	ACADVL	Duplication (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3766706	NM_000018.4(ACADVL):c.1934G>T (p.Gly645Val)	ACADVL (G569V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3766562	NM_000018.4(ACADVL):c.335T>A (p.Phe112Tyr)	ACADVL (F112Y +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3729975	NM_000018.4(ACADVL):c.753-13C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3729350	NM_000018.4(ACADVL):c.1269+18C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3728277	NM_000018.4(ACADVL):c.277+18C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3727417	NM_000018.4(ACADVL):c.898_900del (p.Met300del)	ACADVL (M300del +3 more)	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3722945	NM_000018.4(ACADVL):c.1075del (p.Ala359fs)	ACADVL (A359fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3722791	NM_000018.4(ACADVL):c.144T>C (p.Ala48=)	ACADVL	Single nucleotide variant (synonymous variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3719967	NM_000018.4(ACADVL):c.454G>A (p.Gly152Ser)	ACADVL (G130S +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3719794	NM_000018.4(ACADVL):c.1182+19C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3719719	NM_000018.4(ACADVL):c.1270-12C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3716912	NM_000018.4(ACADVL):c.1150G>C (p.Ala384Pro)	ACADVL (A407P +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3716340	NM_000018.4(ACADVL):c.1138C>A (p.Gln380Lys)	ACADVL (Q380K +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3713673	NM_000018.4(ACADVL):c.1332+17T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3712522	NM_000018.4(ACADVL):c.1333-19T>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3712207	NM_000018.4(ACADVL):c.102C>A (p.Gly34=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3710236	NM_000018.4(ACADVL):c.278-12C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3706421	NM_000018.4(ACADVL):c.412_413delinsAT (p.Glu138Met)	ACADVL (E116M +3 more)	Indel (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3705788	NM_000018.4(ACADVL):c.205-14CT[3]	ACADVL	Microsatellite (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3699971	NM_000018.4(ACADVL):c.1332+12T>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3698943	NM_000018.4(ACADVL):c.1533-5C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3696975	NM_000018.4(ACADVL):c.1333-6T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3693736	NM_000018.4(ACADVL):c.62+19G>A	ACADVL, LOC130060113	Single nucleotide variant (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3693572	NM_000018.4(ACADVL):c.951G>A (p.Val317=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3693544	NM_000018.4(ACADVL):c.1182+13C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3693288	NM_000018.4(ACADVL):c.1837C>G (p.Arg613Gly)	ACADVL (R537G +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3690163	NM_000018.4(ACADVL):c.153G>A (p.Lys51=)	ACADVL	Single nucleotide variant (synonymous variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3690022	NM_000018.4(ACADVL):c.204+11C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3689345	NM_000018.4(ACADVL):c.1001del (p.Met334fs)	ACADVL (M312fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3688136	NM_000018.4(ACADVL):c.1818G>C (p.Trp606Cys)	ACADVL (W629C +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3686695	NM_000018.4(ACADVL):c.1348C>A (p.Arg450Ser)	ACADVL (R374S +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3685474	NM_000018.4(ACADVL):c.1661A>G (p.His554Arg)	ACADVL (H532R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3685210	NM_000018.4(ACADVL):c.78G>T (p.Ala26=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3684944	NM_000018.4(ACADVL):c.1679-17C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3684558	NM_000018.4(ACADVL):c.1060G>A (p.Gly354Ser)	ACADVL (G377S +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3682355	NM_000018.4(ACADVL):c.1828-16C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3681334	NM_000018.4(ACADVL):c.342+17G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3678798	NM_000018.4(ACADVL):c.1174G>T (p.Val392Leu)	ACADVL (V415L +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3674171	NM_000018.4(ACADVL):c.1433T>C (p.Met478Thr)	ACADVL (M402T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3670469	NM_000018.4(ACADVL):c.764T>C (p.Leu255Pro)	ACADVL (L179P +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3669535	NM_000018.4(ACADVL):c.1827+11G>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3669318	NM_000018.4(ACADVL):c.421G>T (p.Ala141Ser)	ACADVL (A164S +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3665270	NM_000018.4(ACADVL):c.1253G>C (p.Ser418Thr)	ACADVL (S441T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3664515	NM_000018.4(ACADVL):c.635C>A (p.Ala212Asp)	ACADVL (A190D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3663447	NM_000018.4(ACADVL):c.1828-5C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3662775	NM_000018.4(ACADVL):c.1542G>A (p.Gly514=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3661549	NM_000018.4(ACADVL):c.303_304insAT (p.Leu102fs)	ACADVL (L102fs +3 more)	Insertion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3661344	NM_000018.4(ACADVL):c.1752-20C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3659358	NM_000018.4(ACADVL):c.1374C>A (p.Phe458Leu)	ACADVL (F436L +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3658709	NM_000018.4(ACADVL):c.1878GCA[1] (p.Gln628del)	ACADVL (Q651del +3 more)	Microsatellite	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3656841	NM_000018.4(ACADVL):c.1902C>T (p.Phe634=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3654465	NM_000018.4(ACADVL):c.901_902del (p.Gly301fs)	ACADVL (G225fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3653294	NM_000018.4(ACADVL):c.388G>T (p.Glu130Ter)	ACADVL (E108* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3652431	NM_000018.4(ACADVL):c.964G>C (p.Val322Leu)	ACADVL (V246L +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3652243	NM_000018.4(ACADVL):c.106_118del (p.Ala36fs)	ACADVL, LOC130060113 (A36fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3651807	NM_000018.4(ACADVL):c.1167G>C (p.Leu389=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3649850	NM_000018.4(ACADVL):c.651C>G (p.Thr217=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3644127	NM_000018.4(ACADVL):c.528T>C (p.Ile176=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3643104	NM_000018.4(ACADVL):c.1635T>G (p.Thr545=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3642616	NM_000018.4(ACADVL):c.1828-20C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3641952	NM_000018.4(ACADVL):c.489G>A (p.Leu163=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3641011	NM_000018.4(ACADVL):c.348G>T (p.Val116=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3640895	NM_000018.4(ACADVL):c.753-13_753-12del	ACADVL	Deletion (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3640481	NM_000018.4(ACADVL):c.1611A>G (p.Val537=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3640189	NM_000018.4(ACADVL):c.10del (p.Ala4fs)	ACADVL, DLG4 (A4fs)	Deletion (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3639960	NM_000018.4(ACADVL):c.343-17T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3638812	NM_000018.4(ACADVL):c.139-13T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3638364	NM_000018.4(ACADVL):c.752+10C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3638051	NM_000018.4(ACADVL):c.139-19T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3634420	NM_000018.4(ACADVL):c.1541G>C (p.Gly514Ala)	ACADVL (G492A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3632447	NM_000018.4(ACADVL):c.277+20G>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3632206	NM_000018.4(ACADVL):c.205-13T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3631405	NM_000018.4(ACADVL):c.999C>T (p.Ala333=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3625831	NM_000018.4(ACADVL):c.1182+9C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3625438	NM_000018.4(ACADVL):c.478-20G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3625101	NM_000018.4(ACADVL):c.1828-8C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3624230	NM_000018.4(ACADVL):c.277+15A>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3622063	NM_000018.4(ACADVL):c.1434+1G>C	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3616399	NM_000018.4(ACADVL):c.746G>C (p.Trp249Ser)	ACADVL (W173S +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3611773	NM_000018.4(ACADVL):c.363G>C (p.Lys121Asn)	ACADVL (K121N +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3603588	NM_000018.4(ACADVL):c.1272G>C (p.Glu424Asp)	ACADVL (E348D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3582810	NM_000018.4(ACADVL):c.1318del (p.Met440fs)	ACADVL (M440fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3582807	NM_000018.4(ACADVL):c.998C>T (p.Ala333Val)	ACADVL (A356V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3582806	NM_000018.4(ACADVL):c.989_1035del (p.Phe330fs)	ACADVL (F308fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3582804	NM_000018.4(ACADVL):c.720C>A (p.Tyr240Ter)	ACADVL (Y164* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3582803	NM_000018.4(ACADVL):c.713dup (p.Tyr240fs)	ACADVL (Y263fs +3 more)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3582801	NM_000018.4(ACADVL):c.622G>C (p.Gly208Arg)	ACADVL (G186R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3582799	NM_000018.4(ACADVL):c.125_126delinsT (p.Gly42fs)	ACADVL, LOC130060113 (G42fs +1 more)	Indel (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3582798	NM_000018.4(ACADVL):c.71_77del (p.Leu24fs)	ACADVL, LOC130060113 (L24fs +1 more)	Deletion (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3366422	NM_000018.4(ACADVL):c.1541G>A (p.Gly514Glu)	ACADVL (G438E +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3252078	NM_000018.4(ACADVL):c.1827+1G>A	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenicFDA Recognized database
Select item 3243103	NC_000017.10:g.(?_7123304)_(7360042_?)del	CHRNB1, ACADVL +23 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3240943	NM_000018.4(ACADVL):c.1835_1860delinsG (p.Ala612fs)	ACADVL (A536fs +3 more)	Indel (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3240937	NM_000018.4(ACADVL):c.1332+1G>C	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3240877	NM_000018.4(ACADVL):c.1077+6T>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3240858	NM_000018.4(ACADVL):c.1533-1G>C	ACADVL	Single nucleotide variant (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3240855	NM_000018.4(ACADVL):c.1545_1546delinsC (p.Gly516fs)	ACADVL (G440fs +3 more)	Indel (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3240838	NM_000018.4(ACADVL):c.1678+1G>A	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3237511	NM_000018.4(ACADVL):c.277+5G>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance

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