"Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qab - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53207	NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)	CFTR (V392G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 40190	NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 623296	NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs)	CFTR (L578fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 623336	NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)	CFTR (D891G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GUncertain significance
Select item 7224	NM_000492.4(CFTR):c.2988+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 7166	NM_000492.3(CFTR):c.3718-2477C>T	CFTR, LOC113633877	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 53885	NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)	CFTR (A1364V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +4 more	GUncertain significance

ClinVar