"Baylor Genetics"[submitter] AND "CFAP92"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30884	NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	ACAD9, CFAP92 (R532W +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2679725	NM_014049.5(ACAD9):c.1597del (p.Val533fs)	ACAD9, CFAP92 (V410fs +1 more)	Deletion (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242459	NM_014049.5(ACAD9):c.1595G>A (p.Arg532Gln)	ACAD9, CFAP92 (R532Q +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 1069233	NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)	ACAD9, CFAP92 (I554fs +1 more)	Duplication (frameshift variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1520012	NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)	ACAD9, CFAP92 (R549Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1479693	NM_014049.5(ACAD9):c.1674_1692+34del	ACAD9, CFAP92	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +2 more	GLikely pathogenic
Select item 3240684	NM_014049.5(ACAD9):c.1690G>A (p.Glu564Lys)	ACAD9, CFAP92 (E441K +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1932297	NM_014049.5(ACAD9):c.1692+1G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 2679699	NM_014049.5(ACAD9):c.1752_1753del (p.Gln585fs)	ACAD9, CFAP92 (Q462fs +1 more)	Microsatellite (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1909455	NM_014049.5(ACAD9):c.1750_1753del (p.Gln585fs)	ACAD9, CFAP92 (Q585fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679724	NM_014049.5(ACAD9):c.1765+2T>A	CFAP92, ACAD9	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 618501	NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)	ACAD9, CFAP92 (K600fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3240617	NM_014049.5(ACAD9):c.1799_1800del (p.Lys600fs)	ACAD9, CFAP92 (K477fs +1 more)	Deletion (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 3240432	NM_014049.5(ACAD9):c.1803_1804del (p.Ser602fs)	ACAD9, CFAP92 (S479fs +1 more)	Microsatellite (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1988383	NM_014049.5(ACAD9):c.1806_1816dup (p.Leu606fs)	ACAD9, CFAP92 (L606fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 453125	NM_014049.5(ACAD9):c.1825C>T (p.Arg609Ter)	ACAD9, CFAP92 (R609* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 390412	NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)	ACAD9, CFAP92 (Y611C +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 242523	NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser)	ACAD9, CFAP92 (P616S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity