ClinVar (all) for Orgtrack (Select 509384) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579738	NM_000492.4(CFTR):c.1368del (p.Ala457fs)	CFTR, CFTR-AS1 (A457fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 495894	NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)	CFTR, CFTR-AS1 (E407*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 455764	NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro)	CFTR (T604P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 48685	NM_000492.4(CFTR):c.1766+5G>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7141	NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)	CFTR (R851*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic

ClinVar