"Ambry Genetics"[submitter] AND "LOC111674472"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3231875	NM_000492.4(CFTR):c.2989-4A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 53614	NM_000492.4(CFTR):c.2989-2A>G	CFTR, LOC111674472	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	CFTR, LOC111674472	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)	CFTR-related disorders +5 more	GConflicting classifications of pathogenicity
Select item 1521233	NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile)	CFTR, LOC111674472 (L998I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1798552	NM_000492.4(CFTR):c.2994A>T (p.Leu998Phe)	LOC111674472, CFTR (L998F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1798548	NM_000492.4(CFTR):c.2994A>C (p.Leu998Phe)	LOC111674472, CFTR (L998F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1114516	NM_000492.4(CFTR):c.2994A>G (p.Leu998=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
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 1706068	NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GLikely pathogenic
Select item 1798698	NM_000492.4(CFTR):c.3000T>C (p.Ile1000=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 53623	NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)	CFTR, LOC111674472 (V1001fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
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 1618260	NM_000492.4(CFTR):c.3003G>T (p.Val1001=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1798739	NM_000492.4(CFTR):c.3005T>C (p.Ile1002Thr)	LOC111674472, CFTR (I1002T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1798748	NM_000492.4(CFTR):c.3006T>A (p.Ile1002=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1798835	NM_000492.4(CFTR):c.3014T>C (p.Ile1005Thr)	CFTR, LOC111674472 (I1005T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53627	NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)	CFTR, LOC111674472 (A1006E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53629	NM_000492.4(CFTR):c.3022del (p.Val1008fs)	CFTR, LOC111674472 (V1008fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 194922	NM_000492.4(CFTR):c.3024C>T (p.Val1008=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 2447415	NM_000492.4(CFTR):c.3025G>T (p.Ala1009Ser)	CFTR, LOC111674472 (A1009S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely benign
Select item 53631	NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)	CFTR, LOC111674472 (A1009T)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2009608	NM_000492.4(CFTR):c.3027A>T (p.Ala1009=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1798973	NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1093340	NM_000492.4(CFTR):c.3033A>G (p.Leu1011=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GLikely benign
Select item 2447423	NM_000492.4(CFTR):c.3034C>A (p.Gln1012Lys)	CFTR, LOC111674472 (Q1012K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1799079	NM_000492.4(CFTR):c.3035A>G (p.Gln1012Arg)	CFTR, LOC111674472 (Q1012R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 597363	NM_000492.4(CFTR):c.3036A>G (p.Gln1012=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 929222	NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser)	CFTR, LOC111674472 (P1013S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 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)	CFTR, LOC111674472 (P1013L)	Single nucleotide variant (missense variant)	not specified +1 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)	not provided +5 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 1799175	NM_000492.4(CFTR):c.3043A>G (p.Ile1015Val)	CFTR, LOC111674472 (I1015V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1799193	NM_000492.4(CFTR):c.3045C>A (p.Ile1015=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
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 1799374	NM_000492.4(CFTR):c.3060G>T (p.Val1020=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1618876	NM_000492.4(CFTR):c.3060G>A (p.Val1020=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 455774	NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu)	CFTR, LOC111674472 (P1021L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 2567883	NM_000492.4(CFTR):c.3063A>G (p.Pro1021=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 38480	NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	LOC111674472, CFTR	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 1011536	NM_000492.4(CFTR):c.3064G>A (p.Val1022Met)	LOC111674472, CFTR (V1022M)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 917684	NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu)	CFTR, LOC111674472 (V1022L)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 2567884	NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly)	CFTR, LOC111674472 (V1022G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1799423	NM_000492.4(CFTR):c.3065T>C (p.Val1022Ala)	CFTR, LOC111674472 (V1022A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1799432	NM_000492.4(CFTR):c.3066G>A (p.Val1022=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 495923	NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)	CFTR, LOC111674472 (I1023R)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 2567903	NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)	CFTR, LOC111674472 (V1024M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1727264	NM_000492.4(CFTR):c.3071T>A (p.Val1024Glu)	CFTR, LOC111674472 (V1024E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1727284	NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)	CFTR, LOC111674472 (A1025S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2567890	NM_000492.4(CFTR):c.3076T>G (p.Phe1026Val)	CFTR, LOC111674472 (F1026V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 35860	NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1727457	NM_000492.4(CFTR):c.3090A>G (p.Arg1030=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1727475	NM_000492.4(CFTR):c.3092C>G (p.Ala1031Gly)	CFTR, LOC111674472 (A1031G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1727483	NM_000492.4(CFTR):c.3093A>G (p.Ala1031=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1727481	NM_000492.4(CFTR):c.3093A>C (p.Ala1031=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 35861	NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	CFTR, LOC111674472 (Y1032C)	Single nucleotide variant (missense variant)	Obstructive azoospermia +5 more	GConflicting classifications of pathogenicity
Select item 1727537	NM_000492.4(CFTR):c.3099C>A (p.Phe1033Leu)	CFTR, LOC111674472 (F1033L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 500752	NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe)	CFTR, LOC111674472 (L1034F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 969643	NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg)	CFTR, LOC111674472 (L1034R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53650	NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	CFTR, LOC111674472 (Q1035*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 618964	NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	CFTR, LOC111674472 (T1036I)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 53652	NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	CFTR, LOC111674472 (T1036N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1130445	NM_000492.4(CFTR):c.3108C>T (p.Thr1036=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231877	NM_000492.4(CFTR):c.3113A>G (p.Gln1038Arg)	CFTR, LOC111674472 (Q1038R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1727808	NM_000492.4(CFTR):c.3117A>G (p.Gln1039=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 439492	NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)	CFTR, LOC111674472 (K1041Q)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2496643	NM_000492.4(CFTR):c.3125A>G (p.Gln1042Arg)	CFTR, LOC111674472 (Q1042R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53660	NM_000492.4(CFTR):c.3139_3139+1del	CFTR, LOC111674472	Deletion (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 35863	NM_000492.4(CFTR):c.3139+8A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 1619187	NM_000492.4(CFTR):c.3139+11G>C	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GLikely benign
Select item 1728042	NM_000492.4(CFTR):c.3139+17G>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 35862	NM_000492.4(CFTR):c.3139+18C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GBenign
Select item 35864	NM_000492.4(CFTR):c.3140-26A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 3231878	NM_000492.4(CFTR):c.3140-3C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
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 2587608	NM_000492.4(CFTR):c.3142A>C (p.Arg1048=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2453626	NM_000492.4(CFTR):c.3146G>A (p.Ser1049Asn)	CFTR, LOC111674472 (S1049N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1728143	NM_000492.4(CFTR):c.3148C>G (p.Pro1050Ala)	CFTR, LOC111674472 (P1050A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1728142	NM_000492.4(CFTR):c.3148C>A (p.Pro1050Thr)	CFTR, LOC111674472 (P1050T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 495927	NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)	CFTR, LOC111674472 (I1051V)	Single nucleotide variant (missense variant)	CFTR-related disorders +5 more	GUncertain significance
Select item 35865	NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	CFTR, LOC111674472 (F1052V)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 1728236	NM_000492.4(CFTR):c.3156C>T (p.Phe1052=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 53666	NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)	CFTR, LOC111674472 (T1053I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 7221	NM_000492.4(CFTR):c.3161del (p.His1054fs)	CFTR, LOC111674472	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53668	NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)	CFTR, LOC111674472 (T1057A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 977083	NM_000492.4(CFTR):c.3174C>T (p.Ser1058=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 53670	NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 227246	NM_000492.4(CFTR):c.3180A>G (p.Lys1060=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 53672	NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1119316	NM_000492.4(CFTR):c.3183A>G (p.Gly1061=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2453634	NM_000492.4(CFTR):c.3186A>T (p.Leu1062=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1728586	NM_000492.4(CFTR):c.3186A>G (p.Leu1062=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1728682	NM_000492.4(CFTR):c.3192A>T (p.Thr1064=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 7162	NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	CFTR, LOC111674472 (R1066C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 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 53683	NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	CFTR, LOC111674472 (A1067V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 439072	NM_000492.4(CFTR):c.3204C>T (p.Phe1068=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	CFTR-related disorders +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)	CFTR-related condition +6 more	GConflicting classifications of pathogenicity

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