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

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	LOC111674472, CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
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 370341	NM_000492.4(CFTR):c.2993del (p.Leu998fs)	CFTR, LOC111674472 (L998fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 53618	NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)	CFTR, LOC111674472	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53623	NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)	CFTR, LOC111674472 (V1001fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53626	NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)	CFTR, LOC111674472 (I1005R)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53629	NM_000492.4(CFTR):c.3022del (p.Val1008fs)	CFTR, LOC111674472 (V1008fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 53630	NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)	CFTR, LOC111674472 (V1008D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 53636	NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)	CFTR, LOC111674472 (Y1014fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53634	NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)	LOC111674472, CFTR (P1013L)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53640	NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)	CFTR, LOC111674472 (F1016S)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 550702	NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr)	CFTR, LOC111674472 (P1021T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 53643	NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)	CFTR, LOC111674472 (P1021S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 53650	NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	LOC111674472, CFTR (Q1035*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 370821	NM_000492.4(CFTR):c.3139+1del	LOC111674472, CFTR	Deletion (splice donor variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GPathogenic/Likely pathogenic
Select item 53660	NM_000492.4(CFTR):c.3139_3139+1del	CFTR, LOC111674472	Deletion (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 550595	NM_000492.4(CFTR):c.3139+3A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 35863	NM_000492.4(CFTR):c.3139+8A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 53661	NM_000492.4(CFTR):c.3140-1G>A	CFTR, LOC111674472	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 495927	NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)	LOC111674472, CFTR (I1051V)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 53668	NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)	CFTR, LOC111674472 (T1057A)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 7208	NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)	CFTR, LOC111674472 (L1065P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53677	NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser)	CFTR, LOC111674472 (R1066S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7158	NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	CFTR, LOC111674472 (R1066H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53679	NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro)	CFTR, LOC111674472 (A1067P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 53682	NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly)	CFTR, LOC111674472 (A1067G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 7210	NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	CFTR, LOC111674472 (H1085R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53694	NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)	CFTR, LOC111674472 (T1086I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53697	NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)	CFTR, LOC111674472 (N1088D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 286681	NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	CFTR, LOC111674472 (F1099L)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 53711	NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	CFTR, LOC111674472 (Q1100P)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 53715	NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)	CFTR, LOC111674472 (E1104*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 552203	NM_000492.4(CFTR):c.3324del (p.Ile1109fs)	CFTR, LOC111674472 (I1109fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53721	NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)	CFTR, LOC111674472 (S1118C)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 552355	NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del)	CFTR, LOC111674472 (T1122del)	Microsatellite (inframe_deletion)	Cystic fibrosis	GUncertain significance
Select item 553367	NM_000492.4(CFTR):c.3367+3A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53725	NM_000492.4(CFTR):c.3367+6A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance

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Items: 44