3712[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700385	NC_000015.10:g.40405451T>C	IVD	Single nucleotide variant	not provided	GLikely benign
Select item 315793	NM_002225.3(IVD):c.-315C>G	IVD	Single nucleotide variant	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1201127	NC_000015.10:g.40405541T>G	IVD	Single nucleotide variant	not provided	GLikely benign
Select item 315794	NM_002225.3(IVD):c.-237G>C	IVD	Single nucleotide variant	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 315795	NM_002225.3(IVD):c.-79C>G	IVD	Single nucleotide variant	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 315796	NM_002225.5(IVD):c.-48G>A	IVD	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 507985	NM_002225.3(IVD):c.-27C>T	IVD	Single nucleotide variant	not specified	GLikely benign
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 553706	NM_002225.5(IVD):c.-8T>G	IVD	Single nucleotide variant (5 prime UTR variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 551816	NM_002225.5(IVD):c.-8T>C	IVD	Single nucleotide variant (5 prime UTR variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 1552477	NM_002225.5(IVD):c.-4A>G	IVD	Single nucleotide variant (5 prime UTR variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 372664	NM_002225.5(IVD):c.1A>C (p.Met1Leu)	IVD (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 1952761	NM_002225.5(IVD):c.2T>C (p.Met1Thr)	IVD (M1T)	Single nucleotide variant (missense variant +3 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3112019	NM_002225.5(IVD):c.5C>T (p.Ala2Val)	IVD (A2V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2000098	NM_002225.5(IVD):c.6G>T (p.Ala2=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1574042	NM_002225.5(IVD):c.9T>C (p.Thr3=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 284237	NM_002225.5(IVD):c.11C>T (p.Ala4Val)	IVD (A4V)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GLikely benign
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 1658396	NM_002225.5(IVD):c.15T>C (p.Thr5=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 948558	NM_002225.5(IVD):c.17G>A (p.Arg6Gln)	IVD (R6Q)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 753813	NM_002225.5(IVD):c.22C>T (p.Leu8=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2081379	NM_002225.5(IVD):c.25G>T (p.Gly9Trp)	IVD (G9W)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1666169	NM_002225.5(IVD):c.27G>T (p.Gly9=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1100260	NM_002225.5(IVD):c.33T>C (p.Arg11=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2188208	NM_002225.5(IVD):c.34G>A (p.Val12Met)	IVD (V12M)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1514427	NM_002225.5(IVD):c.36G>A (p.Val12=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1442551	NM_002225.5(IVD):c.38C>T (p.Ala13Val)	IVD (A13V)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 550517	NM_002225.5(IVD):c.44G>A (p.Trp15Ter)	IVD (W15*)	Single nucleotide variant (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2073260	NM_002225.5(IVD):c.48G>C (p.Arg16Ser)	IVD (R16S)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2416780	NM_002225.5(IVD):c.49C>T (p.Leu17=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 967526	NM_002225.5(IVD):c.52C>T (p.Arg18Trp)	IVD (R18W)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1623707	NM_002225.5(IVD):c.57G>A (p.Pro19=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 851748	NM_002225.5(IVD):c.61_67del (p.Leu21fs)	IVD (L21fs)	Deletion (frameshift variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 1918571	NM_002225.5(IVD):c.59C>T (p.Pro20Leu)	IVD (P20L)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989789	NM_002225.5(IVD):c.60G>T (p.Pro20=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 1533622	NM_002225.5(IVD):c.66C>G (p.Ala22=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2035728	NM_002225.5(IVD):c.69C>T (p.Gly23=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1713673	NM_002225.5(IVD):c.71T>C (p.Phe24Ser)	IVD (F24S)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 796732	NM_002225.5(IVD):c.72C>T (p.Phe24=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2091988	NM_002225.5(IVD):c.78C>G (p.Ser26=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1149465	NM_002225.5(IVD):c.81G>A (p.Gln27=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2109969	NM_002225.5(IVD):c.84G>C (p.Arg28=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2091287	NM_002225.5(IVD):c.87C>A (p.Ala29=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1103923	NM_002225.5(IVD):c.87C>G (p.Ala29=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 799663	NM_002225.5(IVD):c.87C>T (p.Ala29=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 258592	NM_002225.5(IVD):c.88C>T (p.His30Tyr)	IVD (H30Y)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
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 2147492	NM_002225.5(IVD):c.102C>T (p.Pro34=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1080348	NM_002225.5(IVD):c.102C>G (p.Pro34=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 371578	NM_002225.5(IVD):c.102_103del (p.Val35fs)	IVD (V35fs)	Deletion (frameshift variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1389798	NM_002225.5(IVD):c.107A>G (p.Asp36Gly)	IVD (D36G)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 1093041	NM_002225.5(IVD):c.111T>C (p.Asp37=)	IVD	Single nucleotide variant (synonymous variant +2 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 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 1324601	NM_002225.5(IVD):c.122G>A (p.Gly41Glu)	IVD (G41E)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 517883	NM_002225.5(IVD):c.123G>C (p.Gly41=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2709899	NM_002225.5(IVD):c.124C>T (p.Leu42=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 992290	NM_002225.5(IVD):c.124C>G (p.Leu42Val)	IVD (L42V)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1705327	NM_002225.5(IVD):c.127dup (p.Ser43fs)	IVD (S43fs)	Duplication (frameshift variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 1519390	NM_002225.5(IVD):c.125T>G (p.Leu42Arg)	IVD (L42R)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1440855	NM_002225.5(IVD):c.125T>A (p.Leu42Gln)	IVD (L42Q)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3562	NM_002225.5(IVD):c.125T>C (p.Leu42Pro)	IVD (L42P)	Single nucleotide variant (missense variant +2 more)	Isovaleric acidemia, type I	GPathogenic
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 2176816	NM_002225.5(IVD):c.126A>C (p.Leu42=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1409489	NM_002225.5(IVD):c.129C>A (p.Ser43Arg)	IVD (S43R)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 998505	NM_002225.5(IVD):c.133G>A (p.Glu45Lys)	IVD (E45K)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989790	NM_002225.5(IVD):c.137A>G (p.Gln46Arg)	IVD (Q46R)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 985745	NM_002225.5(IVD):c.137A>T (p.Gln46Leu)	IVD (Q46L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1427128	NM_002225.5(IVD):c.142C>G (p.Gln48Glu)	IVD (Q48E)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 766505	NM_002225.5(IVD):c.144+7A>C	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 766598	NM_002225.5(IVD):c.144+8G>A	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1123499	NM_002225.5(IVD):c.144+10C>G	IVD	Single nucleotide variant (5 prime UTR variant +2 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 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 2715772	NM_002225.5(IVD):c.144+18C>T	IVD	Single nucleotide variant (5 prime UTR 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 1204368	NM_002225.5(IVD):c.144+26CCCCAAGGCCTCCTTCCTGCCTGGT[3]	IVD	Microsatellite (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1243249	NM_002225.5(IVD):c.144+56_144+80del	IVD	Microsatellite (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1225746	NM_002225.5(IVD):c.144+56A>G	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1195061	NM_002225.5(IVD):c.145-110G>A	IVD	Single nucleotide variant (intron variant)	not provided	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 2827141	NM_002225.5(IVD):c.145-14C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1610273	NM_002225.5(IVD):c.145-10C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2027888	NM_002225.5(IVD):c.145-9T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 2707642	NM_002225.5(IVD):c.145-8C>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1588844	NM_002225.5(IVD):c.145-8C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1592999	NM_002225.5(IVD):c.145-7C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1664192	NM_002225.5(IVD):c.145-5A>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 2313700	NM_002225.5(IVD):c.145C>A (p.Leu49Ile)	IVD (L33I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1595322	NM_002225.5(IVD):c.147T>C (p.Leu49=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 648047	NM_002225.5(IVD):c.148C>G (p.Arg50Gly)	IVD (R50G +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 2440925	NM_002225.5(IVD):c.149G>T (p.Arg50Leu)	IVD (R34L +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely 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

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