"Illumina Laboratory Services, Illumina"[submitter] AND "CFAP92"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343205	NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900092	NM_014049.5(ACAD9):c.1664G>A (p.Arg555His)	ACAD9, CFAP92 (R555H)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 343206	NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser)	ACAD9, CFAP92 (R559S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 900093	NM_014049.5(ACAD9):c.1705A>C (p.Asn569His)	CFAP92, ACAD9 (N569H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 343207	NM_001394090.1(CFAP92):c.3281-493A>G	ACAD9, CFAP92	Single nucleotide variant (intron variant)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 390412	NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)	ACAD9, CFAP92 (Y611C)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 343208	NM_001394090.1(CFAP92):c.3281-2300G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign/Likely benign
Select item 343209	NM_001394090.1(CFAP92):c.3281-2305C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign
Select item 343210	NM_001394090.1(CFAP92):c.3281-2342G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign/Likely benign
Select item 343211	NM_001394090.1(CFAP92):c.3281-2366T>G	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 901255	NM_001394090.1(CFAP92):c.3280+2308G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 901256	NM_001394090.1(CFAP92):c.3280+2291G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 343212	NM_001394090.1(CFAP92):c.3280+2280TC[4]	CFAP92, ACAD9	Microsatellite (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign/Likely benign
Select item 343213	NM_001394090.1(CFAP92):c.3280+2181A>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign/Likely benign
Select item 901792	NM_001394090.1(CFAP92):c.3280+2171G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 901793	NM_001394090.1(CFAP92):c.3280+2013C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 343214	NM_001394090.1(CFAP92):c.3280+2008C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance