"Ambry Genetics"[submitter] AND "CFP"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2190380	NM_001145252.3(CFP):c.1360C>T (p.Pro454Ser)	CFP (P454S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2381972	NM_001145252.3(CFP):c.1291T>G (p.Phe431Val)	CFP (F431V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2554793	NM_001145252.3(CFP):c.1237A>G (p.Lys413Glu)	CFP (K413E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2254584	NM_001145252.3(CFP):c.1174A>C (p.Met392Leu)	CFP (M392L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1495990	NM_001145252.3(CFP):c.977C>T (p.Pro326Leu)	CFP (P326L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3143843	NM_001145252.3(CFP):c.920A>G (p.Asn307Ser)	CFP (N307S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1177511	NM_001145252.3(CFP):c.643G>A (p.Glu215Lys)	CFP (E215K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2781821	NM_001145252.3(CFP):c.599G>A (p.Gly200Asp)	CFP (G200D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2322032	NM_001145252.3(CFP):c.482G>A (p.Arg161Gln)	CFP (R161Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance