"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554829	NM_000492.4(CFTR):c.92G>A (p.Arg31His)	CFTR (R31H)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 53355	NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	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 48672	NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	CFTR (R75*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35839	NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	CFTR (R75Q)	Single nucleotide variant (missense variant)	CFTR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 53532	NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)	CFTR (L88*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 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 53812	NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	CFTR (G126D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 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 54022	NM_000492.4(CFTR):c.601G>A (p.Val201Met)	CFTR (V201M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 7238	NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	CFTR (E217G)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 93159	NM_000492.4(CFTR):c.869+11C>T	CFTR	Single nucleotide variant (intron variant)	CFTR-related disorder +3 more	GBenign
Select item 53159	NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	CFTR (R334Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 7134	NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)	CFTR (F342fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53174	NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	CFTR (T351S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
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 1679959	NM_000492.4(CFTR):c.1186A>G (p.Asn396Asp)	CFTR (N396D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 188958	NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	CFTR, CFTR-AS1 (I444fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 35822	NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	CFTR, CFTR-AS1 (S466*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7130	NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	CFTR, CFTR-AS1 (V470M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 53254	NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	CFTR, CFTR-AS1 (G480S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53259	NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)	CFTR, CFTR-AS1 (S489*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7126	NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	CFTR, CFTR-AS1 (F508C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 7113	NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	CFTR, LOC111674475 (R560T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 48681	NM_000492.4(CFTR):c.1680-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53352	NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)	CFTR (Y569D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 619674	NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)	CFTR (F575Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 7165	NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	CFTR (G576A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 53379	NM_000492.4(CFTR):c.1766+3A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 53401	NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)	CFTR (A613T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53403	NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	CFTR (D614G)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GPathogenic/Likely pathogenic
Select item 35833	NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	CFTR (G622D)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 35835	NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	CFTR (R668C)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 53460	NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	CFTR (P750L)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 53487	NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	CFTR (D806G)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 53490	NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)	CFTR (Q814*)	Single nucleotide variant (nonsense)	Cystic fibrosis +1 more	GPathogenic
Select item 7175	NM_000492.4(CFTR):c.2490+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 35853	NM_000492.4(CFTR):c.2898G>A (p.Thr966=)	CFTR	Single nucleotide variant (synonymous variant)	CFTR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 219537	NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	CFTR (L967S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 35854	NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	CFTR (G970D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 53631	NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)	CFTR, LOC111674472 (A1009T)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 53638	NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 35861	NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	CFTR, LOC111674472 (Y1032C)	Single nucleotide variant (missense variant)	CFTR-related disorder +5 more	GPathogenic/Likely pathogenic
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 53683	NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	CFTR, LOC111674472 (A1067V)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53684	NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	CFTR, LOC111674472 (G1069R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GConflicting classifications of pathogenicity
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 53690	NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	LOC111674472, CFTR (L1077P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 195464	NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 53715	NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)	CFTR, LOC111674472 (E1104*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 188783	NM_000492.4(CFTR):c.3368-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 951237	NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr)	CFTR (A1136T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 53751	NM_000492.4(CFTR):c.3469-17T>C	CFTR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 35868	NM_000492.4(CFTR):c.3528del (p.Lys1177fs)	CFTR (K1177fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7212	NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)	CFTR (W1204*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 7129	NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	CFTR (W1282*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 93153	NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 7152	NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	CFTR (Q1291H)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 53841	NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)	CFTR (S1297fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7136	NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR (N1303K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53872	NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)	CFTR (L1335P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7237	NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	CFTR (Q1352H)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 1591374	NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 93156	NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 411121	NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	CFTR, LOC111674477 (R1453W)	Single nucleotide variant (missense variant)	CFTR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 7223	NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	CFTR, LOC111674477 (S1455*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic
Select item 93157	NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	CFTR-related disorder +4 more	GBenign/Likely benign

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Items: 86