"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 370078	NM_000492.4(CFTR):c.2490+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 38497	NM_000492.4(CFTR):c.2657+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 35864	NM_000492.4(CFTR):c.3140-26A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7136	NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR (N1303K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic

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