ClinVar for PubMed (Select 2475911) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300168	NM_000492.4(CFTR):c.[3846G>A;3848G>T]	CFTR (W1282* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 634837	NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]	CFTR, CFTR-AS1 +1 more	Deletion (inframe_deletion +1 more)	Cystic fibrosis	GPathogenic
Select item 583471	NC_000007.14:g.(?_117530893)_(117559661_?)del	CFTR, CFTR-AS1 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 526029	NC_000007.14:g.(?_117530879)_(117559675_?)del	CFTR, CFTR-AS1 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 7129	NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	CFTR (W1282*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic

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