"PharmGKB"[submitter] AND "LOC111674472"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35865	NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	LOC111674472, CFTR (F1052V)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53671	NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr)	CFTR, LOC111674472 (K1060T)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 7159	NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)	CFTR, LOC111674472 (A1067T)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53685	NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	CFTR, LOC111674472 (R1070W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 35866	NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	CFTR, LOC111674472 (R1070Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53688	NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	LOC111674472, CFTR (F1074L)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response

ClinVar