ClinVar for OMIM (Select 243500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243762	NC_000015.9:g.(?_40698020)_(40700209_?)del	IVD	Deletion	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 3243761	NC_000015.9:g.(?_40710309)_(40710462_?)del	IVD	Deletion	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 3241785	NM_002225.5(IVD):c.810del (p.Asn270fs)	IVD (N240fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241784	NM_002225.5(IVD):c.340G>C (p.Glu114Gln)	IVD (E114Q +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3065813	NM_002225.5(IVD):c.872C>T (p.Pro291Leu)	IVD (P261L +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3064929	NM_002225.5(IVD):c.878+5G>A	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3061794	NM_002225.5(IVD):c.856G>A (p.Val286Met)	IVD (V256M +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3021495	NM_002225.5(IVD):c.12G>C (p.Ala4=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 3021038	NM_002225.5(IVD):c.457-1G>A	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3020554	NM_002225.5(IVD):c.1080G>T (p.Val360=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 3018442	NM_002225.5(IVD):c.179A>C (p.His60Pro)	IVD (H44P +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3013988	NM_002225.5(IVD):c.985_986del (p.Met329fs)	IVD (M299fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 3013133	NM_002225.5(IVD):c.784+15G>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 3011248	NM_002225.5(IVD):c.286+18C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 3007386	NM_002225.5(IVD):c.1197G>A (p.Leu399=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 3000141	NM_002225.5(IVD):c.457-16G>A	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2990589	NM_002225.5(IVD):c.286+14C>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2990005	NM_002225.5(IVD):c.1065+16A>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2989372	NM_002225.5(IVD):c.1066-18C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2986249	NM_002225.5(IVD):c.1139-12C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2986072	NM_002225.5(IVD):c.785-2A>T	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2985200	NM_002225.5(IVD):c.287-19T>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2977277	NM_002225.5(IVD):c.145-2A>T	IVD	Single nucleotide variant (splice acceptor variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2970838	NM_002225.5(IVD):c.1139-5T>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2970816	NM_002225.5(IVD):c.727C>T (p.Leu243=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2969350	NM_002225.5(IVD):c.457-12T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2964589	NM_002225.5(IVD):c.961-20T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2963501	NM_002225.5(IVD):c.717G>A (p.Lys239=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2961849	NM_002225.5(IVD):c.1065+19C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2960141	NM_002225.5(IVD):c.126A>G (p.Leu42=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2957850	NM_002225.5(IVD):c.144+20del	IVD	Deletion (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2920113	NM_002225.5(IVD):c.561C>T (p.Tyr187=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2917885	NM_002225.5(IVD):c.1110G>A (p.Gln370=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2917804	NM_002225.5(IVD):c.1242C>A (p.Ile414=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2917032	NM_002225.5(IVD):c.66C>T (p.Ala22=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2914726	NM_002225.5(IVD):c.784+19C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2914522	NM_002225.5(IVD):c.1139-11C>A	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2913379	NM_002225.5(IVD):c.1138+19C>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2913053	NM_002225.5(IVD):c.268T>C (p.Leu90=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2910883	NM_002225.5(IVD):c.961-5C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2910563	NM_002225.5(IVD):c.264C>G (p.Gly88=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2909203	NM_002225.5(IVD):c.298G>A (p.Gly100Ser)	IVD (G84S +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2907463	NM_002225.5(IVD):c.667dup (p.Thr223fs)	IVD (T252fs +3 more)	Duplication (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2907319	NM_002225.5(IVD):c.1139-11C>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2906453	NM_002225.5(IVD):c.162T>C (p.Ala54=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2905071	NM_002225.5(IVD):c.550+18T>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2904765	NM_002225.5(IVD):c.888A>G (p.Gln296=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2896198	NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)	IVD (N342S +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2884981	NM_002225.5(IVD):c.286+18C>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2884873	NM_002225.5(IVD):c.879-12C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2879401	NM_002225.5(IVD):c.792C>T (p.Asn264=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2878009	NM_002225.5(IVD):c.1138+14A>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2877781	NM_002225.5(IVD):c.456+15A>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2877055	NM_002225.5(IVD):c.1139-20T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2876322	NM_002225.5(IVD):c.960+7C>A	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2872692	NM_002225.5(IVD):c.1139-16C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2872289	NM_002225.5(IVD):c.99G>A (p.Leu33=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2871714	NM_002225.5(IVD):c.784+7A>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2871432	NM_002225.5(IVD):c.1139-19G>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2870529	NM_002225.5(IVD):c.551-17C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2868637	NM_002225.5(IVD):c.846G>A (p.Leu282=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2864225	NM_002225.5(IVD):c.114A>G (p.Ala38=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2864009	NM_002225.5(IVD):c.145-19T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2863128	NM_002225.5(IVD):c.669dup (p.Ala224fs)	IVD (A208fs +3 more)	Duplication (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2863078	NM_002225.5(IVD):c.327G>A (p.Val109=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2853381	NM_002225.5(IVD):c.376T>C (p.Tyr126His)	IVD (Y110H +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2850099	NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer)	IVD	Duplication (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2849551	NM_002225.5(IVD):c.307C>T (p.Leu103=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2847794	NM_002225.5(IVD):c.447T>C (p.Tyr149=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2846947	NM_002225.5(IVD):c.1139-10C>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2845570	NM_002225.5(IVD):c.287-18G>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2845298	NM_002225.5(IVD):c.525T>C (p.Ser175=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2842386	NM_002225.5(IVD):c.1066-18C>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2841052	NM_002225.5(IVD):c.267A>G (p.Val89=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2839444	NM_002225.5(IVD):c.144+15C>T	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2838721	NM_002225.5(IVD):c.1138+20C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2837791	NM_002225.5(IVD):c.144+1G>C	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2836607	NM_002225.5(IVD):c.300C>A (p.Gly100=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2834992	NM_002225.5(IVD):c.286+3_286+6dup	IVD	Duplication (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2832126	NM_002225.5(IVD):c.163A>T (p.Lys55Ter)	IVD (K39* +1 more)	Single nucleotide variant (nonsense +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2827565	NM_002225.5(IVD):c.457-19T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2827141	NM_002225.5(IVD):c.145-14C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2823620	NM_002225.5(IVD):c.234+10G>A	IVD (E82K)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2823164	NM_002225.5(IVD):c.456+11G>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2822289	NM_002225.5(IVD):c.961-13C>A	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2818641	NM_002225.5(IVD):c.285del (p.Val96fs)	IVD (V66fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2818385	NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter)	IVD (K242* +3 more)	Indel (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2815785	NM_002225.5(IVD):c.120T>C (p.Asn40=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2814328	NM_002225.5(IVD):c.882C>G (p.Leu294=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2811983	NM_002225.5(IVD):c.762C>A (p.Ile254=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2811282	NM_002225.5(IVD):c.1212T>G (p.Ala404=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2810468	NM_002225.5(IVD):c.259del (p.Leu87fs)	IVD (L87fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2810038	NM_002225.5(IVD):c.1107A>C (p.Thr369=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2806724	NM_002225.5(IVD):c.144+17C>T	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2804846	NM_002225.5(IVD):c.784+18del	IVD	Deletion (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2804555	NM_002225.5(IVD):c.234+16C>G	IVD (R84G)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2798929	NM_002225.5(IVD):c.1138+13C>A	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2796396	NM_002225.5(IVD):c.324T>C (p.His108=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2795136	NM_002225.5(IVD):c.774C>T (p.Cys258=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2794520	NM_002225.5(IVD):c.688-19C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign

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