C0010674[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
Select item 53980	NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)	CFTR (Q2*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 2006304	NM_000492.4(CFTR):c.9del (p.Arg3fs)	CFTR (R3fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53211	NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	CFTR (S4*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35824	NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	CFTR (P5L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 818140	NM_000492.4(CFTR):c.25dup (p.Ala9fs)	CFTR (A9fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 495928	NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	CFTR (V11I)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 53845	NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	CFTR (S13F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1736923	NM_000492.4(CFTR):c.40_44del (p.Lys14fs)	CFTR (K14fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 53888	NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)	CFTR (K14*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 53945	NM_000492.4(CFTR):c.43del (p.Leu15fs)	CFTR (L15fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 634833	NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)	CFTR (L15P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 2680710	NM_000492.4(CFTR):c.54-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 54061	NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)	CFTR (G27*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54062	NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)	CFTR (G27E)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53204	NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	CFTR (Q39*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53305	NM_000492.4(CFTR):c.164+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53304	NM_000492.4(CFTR):c.164+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53303	NM_000492.4(CFTR):c.164+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53317	NM_000492.4(CFTR):c.165-3C>T	CFTR, LOC113664106	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
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 53347	NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)	LOC113664106, CFTR (W57G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53373	NM_000492.4(CFTR):c.174_177del (p.Asp58fs)	CFTR, LOC113664106 (D58fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487400	NM_000492.4(CFTR):c.175dup (p.Arg59fs)	CFTR, LOC113664106 (R59fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 813399	NM_000492.4(CFTR):c.179_180del (p.Glu60fs)	LOC113664106, CFTR (E60fs)	Microsatellite (frameshift variant)	Cystic fibrosis +1 more	GLikely pathogenic
Select item 53386	NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)	CFTR, LOC113664106 (E60K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38730	NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	CFTR, LOC113664106 (E60*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 48672	NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	CFTR (R75*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53475	NM_000492.4(CFTR):c.233dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53476	NM_000492.4(CFTR):c.233del (p.Phe78fs)	CFTR (F78fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 928495	NM_000492.4(CFTR):c.234dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 813400	NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)	CFTR (G85*)	Single nucleotide variant (nonsense)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GPathogenic/Likely pathogenic
Select item 7143	NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	CFTR (G85E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7232	NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	CFTR (L88fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53534	NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	CFTR (L88*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7183	NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)	CFTR (G91R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53549	NM_000492.4(CFTR):c.273+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 35846	NM_000492.4(CFTR):c.273+3A>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 53556	NM_000492.4(CFTR):c.274-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53554	NM_000492.4(CFTR):c.274-1G>C	CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 48680	NM_000492.4(CFTR):c.274-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7186	NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)	CFTR (E92*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7181	NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)	CFTR (E92K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53600	NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	CFTR (Q98*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53606	NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	CFTR (Q98R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1704259	NM_000492.4(CFTR):c.308del (p.Gly103fs)	CFTR (G103fs)	Deletion (frameshift variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 48684	NM_000492.4(CFTR):c.313del (p.Ile105fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53680	NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis +1 more	GPathogenic
Select item 53692	NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	CFTR (S108F)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53696	NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs)	CFTR (Y109fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7197	NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)	CFTR (Y109C)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
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 53762	NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	CFTR (R117G)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic
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 53765	NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	CFTR (R117L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53774	NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	CFTR (A120T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53812	NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	CFTR (G126D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1029874	NM_000492.4(CFTR):c.389T>C (p.Leu130Pro)	CFTR (L130P)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GUncertain significance
Select item 1029875	NM_000492.4(CFTR):c.407T>G (p.Leu136Arg)	CFTR (L136R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53905	NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)	CFTR	Duplication (inframe_insertion)	Cystic fibrosis	GPathogenic
Select item 53910	NM_000492.4(CFTR):c.416A>T (p.His139Leu)	CFTR (H139L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 53909	NM_000492.4(CFTR):c.416A>G (p.His139Arg)	CFTR (H139R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53912	NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	CFTR (P140S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +6 more	GUncertain significance
Select item 53949	NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)	CFTR (I148N)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 53955	NM_000492.4(CFTR):c.454A>G (p.Met152Val)	CFTR (M152V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 618959	NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	CFTR (S158N)	Single nucleotide variant (missense variant)	CFTR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 53962	NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	CFTR (L159S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 664643	NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs)	CFTR (K162fs)	Insertion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53969	NM_000492.4(CFTR):c.489+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53971	NM_000492.4(CFTR):c.489+3A>G	CFTR	Single nucleotide variant (intron variant)	Hereditary pancreatitis +5 more	GConflicting classifications of pathogenicity
Select item 53974	NM_000492.4(CFTR):c.490-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 1706049	NM_000492.4(CFTR):c.498del (p.Lys166fs)	CFTR (K166fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53986	NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	CFTR (I175V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GConflicting classifications of pathogenicity
Select item 53991	NM_000492.4(CFTR):c.531del (p.Ile177fs)	CFTR (I177fs)	Deletion (frameshift 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 694031	NM_000492.4(CFTR):c.544dup (p.Ser182fs)	CFTR (S182fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 558712	NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)	CFTR (N186K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 495953	NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	CFTR (F191V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38494	NM_000492.4(CFTR):c.579+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 54010	NM_000492.4(CFTR):c.579+3A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 54012	NM_000492.4(CFTR):c.579+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 837464	NM_000492.4(CFTR):c.580-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 618913	NM_000492.4(CFTR):c.580-2A>C	CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 54014	NM_000492.4(CFTR):c.580-1G>T	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1300164	NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)	CFTR (G194R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54016	NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	CFTR (G194V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 54018	NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	CFTR (H199Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54023	NM_000492.4(CFTR):c.601del (p.Val201fs)	CFTR (V201fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 54026	NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	CFTR (P205S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 411118	NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)	CFTR (G213E)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 54035	NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)	CFTR (L218*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54036	NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	CFTR (Q220*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 811381	NM_000492.4(CFTR):c.708del (p.Gln237fs)	CFTR (Q237fs)	Deletion (frameshift variant)	not specified +2 more	GPathogenic

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