CN322735[trait identifier] AND "PharmGKB"[submitter] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 53425	NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	CFTR (P67L)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 196277	NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	CFTR (R74W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 7108	NM_000492.4(CFTR):c.328G>C (p.Asp110His)	CFTR (D110H)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 53714	NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	CFTR (D110E)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 48688	NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	CFTR (R117C)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 48692	NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	CFTR (G178R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 54006	NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)	CFTR (E193K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7190	NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR (L206W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7198	NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	CFTR (R352Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7111	NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	CFTR, CFTR-AS1 (A455E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38733	NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7116	NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	CFTR, LOC111674475 (S549N)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 40190	NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7142	NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	CFTR, LOC111674475 (G551S)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7120	NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	CFTR, LOC111674475 (G551D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53365	NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)	CFTR (D579G)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53575	NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	CFTR (S945L)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 53601	NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)	CFTR (S977F)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
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
Select item 35867	NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	CFTR (D1152H)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53797	NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)	CFTR (G1244E)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7217	NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)	CFTR (S1251N)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7192	NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)	CFTR (S1255P)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 2502286	NM_000492.4(CFTR):c.3808G>T (p.Asp1270Tyr)	CFTR (D1270Y)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 35881	NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	CFTR (G1349D)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response

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Items: 32