"Baylor Genetics"[submitter] AND "IVD"[gene] - ClinVar

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552811	NM_002225.5(IVD):c.-9A>T	IVD	Single nucleotide variant (5 prime UTR variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 2676183	NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)	IVD	Deletion (nonsense +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1454153	NM_002225.5(IVD):c.109G>A (p.Asp37Asn)	IVD (D37N)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
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 370705	NM_002225.5(IVD):c.144+1G>A	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3567	NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	IVD (R34C +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 370843	NM_002225.5(IVD):c.149G>A (p.Arg50His)	IVD (R50H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 188922	NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	IVD (R50P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1321422	NM_002225.5(IVD):c.205G>A (p.Asp69Asn)	IVD (D53N +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 370807	NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	IVD (R78* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 653100	NM_002225.5(IVD):c.243G>A (p.Trp81Ter)	IVD (W81* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 203788	NM_002225.5(IVD):c.286+2T>C	IVD	Single nucleotide variant (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 552580	NM_002225.5(IVD):c.287-1G>A	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2676192	NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)	IVD (Y127* +3 more)	Single nucleotide variant (nonsense +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 551222	NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	IVD (R87* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 978711	NM_002225.5(IVD):c.350G>A (p.Arg117Gln)	IVD (R101Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 167199	NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	IVD (G104R +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 459924	NM_002225.5(IVD):c.381del (p.Ala128fs)	IVD (A112fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2676195	NM_002225.5(IVD):c.394del (p.Leu132fs)	IVD (L102fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 94054	NM_002225.5(IVD):c.397_398del (p.Cys133fs)	IVD (C103fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1726051	NM_002225.5(IVD):c.433C>T (p.Gln145Ter)	IVD (Q115* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 94055	NM_002225.5(IVD):c.456+2T>C	IVD	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2676189	NM_002225.5(IVD):c.457-2A>C	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 188720	NM_002225.5(IVD):c.457-2A>G	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 203791	NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)	IVD	Microsatellite (inframe_insertion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1057882	NM_002225.5(IVD):c.467G>C (p.Gly156Ala)	IVD (G126A +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 94056	NM_002225.5(IVD):c.498del (p.Glu166fs)	IVD (E136fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2137648	NM_002225.5(IVD):c.506_507insT (p.Gly170fs)	IVD (G170fs +3 more)	Insertion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 2676200	NM_002225.5(IVD):c.526A>G (p.Met176Val)	IVD (M146V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1254764	NM_002225.5(IVD):c.539C>T (p.Ala180Val)	IVD (A150V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 372389	NM_002225.5(IVD):c.550+1G>A	IVD	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2676199	NM_002225.5(IVD):c.581del (p.Phe194fs)	IVD (F164fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3563	NM_002225.5(IVD):c.596G>T (p.Gly199Val)	IVD (G183V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 587624	NM_002225.5(IVD):c.599del (p.Pro200fs)	IVD (P184fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 459930	NM_002225.5(IVD):c.618del (p.Ile206fs)	IVD (I176fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676194	NM_002225.5(IVD):c.631A>G (p.Thr211Ala)	IVD (T181A +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1723958	NM_002225.5(IVD):c.634_635del (p.Asp212fs)	IVD (D182fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 593628	NM_002225.5(IVD):c.650del (p.Pro217fs)	IVD (P201fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 280881	NM_002225.5(IVD):c.707C>T (p.Thr236Ile)	IVD (T236I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2676190	NM_002225.5(IVD):c.761_785-762del	IVD	Deletion (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 198480	NM_002225.5(IVD):c.784+1G>A	IVD	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2676198	NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)	IVD	Deletion (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2137649	NM_002225.5(IVD):c.832A>G (p.Ser278Gly)	IVD (S262G +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676184	NM_002225.5(IVD):c.850C>T (p.Arg284Trp)	IVD (R254W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 555453	NM_002225.5(IVD):c.851G>A (p.Arg284Gln)	IVD (R313Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 459932	NM_002225.5(IVD):c.870dup (p.Pro291fs)	IVD (P261fs +3 more)	Duplication (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 864566	NM_002225.5(IVD):c.865G>A (p.Gly289Arg)	IVD (G289R +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2676201	NM_002225.5(IVD):c.878+2T>C	IVD	Single nucleotide variant (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 203792	NM_002225.5(IVD):c.890C>T (p.Ala297Val)	IVD (A297V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2676197	NM_002225.5(IVD):c.928del (p.Glu310fs)	IVD (E280fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 100060	NM_002225.5(IVD):c.932C>T (p.Ala311Val)	IVD (A281V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 627426	NM_002225.5(IVD):c.960G>T (p.Gln320His)	IVD (Q320H +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2676188	NM_002225.5(IVD):c.960+1G>A	IVD	Single nucleotide variant (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676193	NM_002225.5(IVD):c.986T>C (p.Met329Thr)	IVD (M299T +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676187	NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)	IVD (C306Y +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 653635	NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)	IVD (R321W +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2083374	NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)	IVD (A314T +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2676196	NM_002225.5(IVD):c.1066del	IVD	Deletion	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 94050	NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)	IVD (D356N +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2676202	NM_002225.5(IVD):c.1087dup (p.Tyr363fs)	IVD (Y333fs +3 more)	Duplication (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 645855	NM_002225.5(IVD):c.1112T>C (p.Val371Ala)	IVD (V371A +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1331437	NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)	IVD (G345S +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1698660	NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)	IVD (G345D +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2676186	NM_002225.5(IVD):c.1140del (p.Gly381fs)	IVD (G351fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 265202	NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)	IVD (R392C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 623383	NM_002225.5(IVD):c.1175G>A (p.Arg392His)	IVD (R392H +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 188993	NM_002225.5(IVD):c.1179del (p.Leu394fs)	IVD (L364fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 571005	NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)	IVD (R395* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 529434	NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)	IVD (R395Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2676185	NM_002225.5(IVD):c.1186G>C (p.Asp396His)	IVD (D366H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 371390	NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	IVD (Y400C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1444290	NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)	IVD (E378K +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 803069	NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)	IVD (R411W +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 450659	NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	IVD (R440Q +3 more)	Single nucleotide variant (missense variant +1 more)	IVD-related disorder +3 more	GConflicting classifications of pathogenicity

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Items: 77