"Revvity Omics, Revvity"[submitter] AND "CFTR-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53222	NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)	CFTR, CFTR-AS1 (Q414*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 551988	NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	CFTR, CFTR-AS1 (I444T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53251	NM_000492.4(CFTR):c.1418del (p.Gly473fs)	CFTR-AS1, CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7107	NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	CFTR, CFTR-AS1 (Q493*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	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 7140	NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)	CFTR, CFTR-AS1	Microsatellite (nonsense)	Cystic fibrosis	GPathogenic

ClinVar