"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188958	NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	CFTR, CFTR-AS1 (I444fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 35822	NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	CFTR-AS1, CFTR (S466*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7130	NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	CFTR, CFTR-AS1 (V470M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 53254	NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	CFTR, CFTR-AS1 (G480S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53259	NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)	CFTR, CFTR-AS1 (S489*)	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
Select item 7126	NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	CFTR, CFTR-AS1 (F508C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GConflicting classifications of pathogenicity
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	CFTR-related disorder +5 more	GConflicting classifications of pathogenicity