C0268575[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 46

	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 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 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 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 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 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 550930	NM_002225.5(IVD):c.157_160dup (p.Ala54fs)	IVD (A54fs +1 more)	Duplication (frameshift variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely 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 390426	NM_002225.5(IVD):c.234+17G>A	IVD (R84Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 550948	NM_002225.5(IVD):c.272G>A (p.Gly91Asp)	IVD (G120D +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 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 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 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 553403	NM_002225.5(IVD):c.436A>G (p.Lys146Glu)	IVD (K130E +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 188724	NM_002225.5(IVD):c.457-3_457-2delinsGG	IVD	Indel (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely 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 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 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 371148	NM_002225.5(IVD):c.551-1G>A	IVD	Single nucleotide variant (splice acceptor variant)	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 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 550667	NM_002225.5(IVD):c.711dup (p.Lys238Ter)	IVD (K208* +3 more)	Duplication (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 557108	NM_002225.5(IVD):c.712AAG[1] (p.Lys239del)	IVD (K239del +3 more)	Microsatellite (inframe_deletion +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 370789	NM_002225.5(IVD):c.744dup (p.Asn249Ter)	IVD (N249* +3 more)	Duplication (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 557485	NM_002225.5(IVD):c.785-1G>A	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
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 555464	NM_002225.5(IVD):c.875T>C (p.Leu292Pro)	IVD (L292P +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 552128	NM_002225.5(IVD):c.878+1G>A	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 371161	NM_002225.5(IVD):c.961-2A>G	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 558117	NM_002225.5(IVD):c.961-1G>T	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 552711	NM_002225.5(IVD):c.974del (p.Lys325fs)	IVD (K325fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 553143	NM_002225.5(IVD):c.994del (p.Arg332fs)	IVD (R361fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 203783	NM_002225.5(IVD):c.1139-3C>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 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 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 529433	NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)	IVD (I402T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 551276	NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)	IVD (R380fs +3 more)	Deletion (frameshift 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: 46