"Genome-Nilou Lab"[submitter] AND "LOC111674472"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598648	NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)	CFTR, LOC111674472 (V1001M)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	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 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 35859	NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	CFTR, LOC111674472 (P1013H)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
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 53647	NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)	CFTR, LOC111674472 (M1028R)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 439492	NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)	CFTR, LOC111674472 (K1041Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 283775	NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)	CFTR, LOC111674472 (G1047C)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +4 more	GUncertain significance
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 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 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 53666	NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)	CFTR, LOC111674472 (T1053I)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
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 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 517253	NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln)	CFTR, LOC111674472 (K1080Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 871193	NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)	CFTR, LOC111674472 (T1086A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 411123	NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)	LOC111674472, CFTR (T1086S)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
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 432801	NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)	LOC111674472, CFTR (W1089C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 495930	NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	CFTR, LOC111674472 (Y1092H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 53719	NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)	CFTR, LOC111674472 (V1108L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 823649	NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr)	CFTR, LOC111674472 (I1117T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance

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Items: 23