LOC111674472[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 634835	NM_000492.3(CFTR):c.[1397C>G;3209G>A]	CFTR, CFTR-AS1 +1 more (S466* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 634837	NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]	CFTR, CFTR-AS1 +1 more	Deletion (inframe_deletion +1 more)	Cystic fibrosis	GPathogenic
Select item 1275739	NM_000492.4(CFTR):c.2620-674_3367+232del	CFTR, LOC111674472	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 690360	NM_000492.4(CFTR):c.2908+1085_3367+260del	LOC111674472, CFTR	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1705867	NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG	CFTR, LOC111674472	Indel (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 634909	NM_000492.4(CFTR):c.2911_3367+2del	CFTR, LOC111674472	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 495921	NM_000492.4(CFTR):c.2988+1186_2988+1194del	CFTR, LOC111674472	Deletion (intron variant)	not specified	GLikely benign
Select item 1705878	NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC	CFTR, LOC111674472	Indel (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 51033	NM_000492.4(CFTR):c.2989-977_3367+248del	CFTR, LOC111674472	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 818144	NM_000492.4(CFTR):c.2989-908_3085delinsGACAG	CFTR, LOC111674472	Indel (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 916289	NM_000492.4(CFTR):c.2989-664C>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 916290	NM_000492.4(CFTR):c.2989-422G>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 818113	NM_000492.4(CFTR):c.2989-313A>T	LOC111674472, CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GPathogenic
Select item 818104	NM_000492.4(CFTR):c.2989-81del	LOC111674472, CFTR	Deletion (intron variant)	Cystic fibrosis	GBenign
Select item 658988	NC_000007.14:g.(?_117610509)_(117614723_?)del	CFTR, LOC111674472	Deletion	Cystic fibrosis	GPathogenic
Select item 2809738	NM_000492.4(CFTR):c.2989-6T>C	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3231875	NM_000492.4(CFTR):c.2989-4A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 634910	NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del	CFTR, LOC111674472	Deletion	Cystic fibrosis	GPathogenic
Select item 2888793	NM_000492.4(CFTR):c.2989-3C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53615	NM_000492.4(CFTR):c.2989-3C>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GConflicting classifications of pathogenicity
Select item 53616	NM_000492.3(CFTR):c.2989_3139del151	CFTR, LOC111674472	Deletion	Cystic fibrosis	GPathogenic
Select item 53614	NM_000492.4(CFTR):c.2989-2A>G	LOC111674472, CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 35858	NM_000492.4(CFTR):c.2989-2A>T	LOC111674472, CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1	GPathogenic
Select item 1706047	NM_000492.4(CFTR):c.2991_2993del	CFTR, LOC111674472	Microsatellite (splice acceptor variant)	Cystic fibrosis	GUncertain significance
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	CFTR, LOC111674472	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1565646	NM_000492.4(CFTR):c.2991G>A (p.Leu997=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	not provided +4 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 370341	NM_000492.4(CFTR):c.2993del (p.Leu998fs)	CFTR, LOC111674472 (L998fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
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 1450404	NM_000492.4(CFTR):c.2994del (p.Leu998fs)	CFTR, LOC111674472 (L998fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
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 53620	NM_000492.4(CFTR):c.2998del (p.Ile1000fs)	CFTR, LOC111674472 (I1000fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1706068	NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GLikely pathogenic
Select item 53619	NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs)	CFTR, LOC111674472 (I1000fs)	Deletion (frameshift variant)	Cystic fibrosis	Gnot provided
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 2967154	NM_000492.4(CFTR):c.3003G>A (p.Val1001=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
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)	CFTR, LOC111674472 (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 1809553	NM_000492.4(CFTR):c.3007G>A (p.Gly1003Arg)	CFTR, LOC111674472 (G1003R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 53624	NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter)	CFTR, LOC111674472 (G1003*)	Single nucleotide variant (nonsense)	Cystic fibrosis	Gnot provided
Select item 53625	NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu)	CFTR, LOC111674472 (G1003E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1945482	NM_000492.4(CFTR):c.3009A>C (p.Gly1003=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 634830	NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 618911	NM_000492.4(CFTR):c.3011del (p.Ala1004fs)	CFTR, LOC111674472 (A1004fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 837663	NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)	CFTR, LOC111674472 (A1006fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 570891	NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val)	LOC111674472, CFTR (I1005V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 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 53627	NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)	CFTR, LOC111674472 (A1006E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53628	NM_000492.4(CFTR):c.3021del (p.Val1008fs)	CFTR, LOC111674472 (V1008fs)	Deletion (frameshift variant)	Cystic fibrosis	Gnot provided
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 53630	NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)	CFTR, LOC111674472 (V1008D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 194922	NM_000492.4(CFTR):c.3024C>T (p.Val1008=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	not provided +2 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)	Cystic fibrosis +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 618931	NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)	CFTR, LOC111674472 (L1011*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 53635	NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)	CFTR, LOC111674472 (Y1014fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 929222	NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser)	CFTR, LOC111674472 (P1013S)	Single nucleotide variant (missense variant)	not specified +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)	Cystic fibrosis +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 specified +5 more	GUncertain significance
Select item 801153	NM_000492.4(CFTR):c.3040_3042del (p.Tyr1014del)	LOC111674472, CFTR (Y1014del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 632763	NM_000492.4(CFTR):c.3039C>G (p.Pro1013=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3014427	NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
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 3015894	NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
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 550702	NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr)	LOC111674472, CFTR (P1021T)	Single nucleotide variant (missense variant)	Cystic fibrosis	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 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 53645	NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 38480	NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 1011536	NM_000492.4(CFTR):c.3064G>A (p.Val1022Met)	CFTR, LOC111674472 (V1022M)	Single nucleotide variant (missense variant)	CFTR-related disorder +1 more	GUncertain significance
Select item 917684	NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu)	CFTR, LOC111674472 (V1022L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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