"Counsyl"[submitter] AND "LOC113664106"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53317	NM_000492.4(CFTR):c.165-3C>T	CFTR, LOC113664106	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53314	NM_000492.4(CFTR):c.165-1G>A	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53325	NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	CFTR, LOC113664106 (E56K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 549932	NM_000492.4(CFTR):c.167A>G (p.Glu56Gly)	LOC113664106, CFTR (E56G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7179	NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53373	NM_000492.4(CFTR):c.174_177del (p.Asp58fs)	CFTR, LOC113664106 (D58fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic

ClinVar