"Zotz-Klimas Genetics Lab, MVZ Zotz Klimas"[submitter] AND "CFTR"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35893	NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	CFTR (R31C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 more	GConflicting classifications of pathogenicity
Select item 2627775	NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)	CFTR (R55fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 35839	NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	CFTR (R75Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +4 more	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 35835	NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	CFTR (R668C)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 35872	NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	CFTR (S1235R)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 2664046	NM_000492.4(CFTR):c.3718-2477C>G	CFTR, LOC113633877	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GUncertain significance

ClinVar