"CFTR-related disorders"[Disease/phenotype] AND "Rady Children's Insti - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53425	NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	CFTR (P67L)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53460	NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	CFTR (P750L)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +6 more	GConflicting classifications of pathogenicity
Select item 53552	NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)	CFTR (Y913*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53947	NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	CFTR, LOC111674477 (Q1476*)	Single nucleotide variant (nonsense)	not specified +6 more	GPathogenic/Likely pathogenic

ClinVar