CFTR-AS1[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	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 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	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 2499643	GRCh38/hg38 7q31.2(chr7:116868268-117565389)	ASZ1, CAPZA2 +42 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 526029	NC_000007.14:g.(?_117530879)_(117559675_?)del	CFTR, CFTR-AS1 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 583471	NC_000007.14:g.(?_117530893)_(117559661_?)del	CFTR, CFTR-AS1 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 209047	NM_000492.3(CFTR):c.[350G>A;1210-12[5]]	CFTR, CFTR-AS1 (R117H)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1725985	NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)	CFTR, CFTR-AS1 (E391*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 2575229	NM_000492.4(CFTR):c.1209+568A>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 1705265	NM_000492.4(CFTR):c.1209+1988_1392+2067inv	CFTR, CFTR-AS1	Inversion (splice acceptor variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1704387	NM_000492.4(CFTR):c.[1209+1988_1392+2067inv;1392+2072_1392+2074del]	CFTR, CFTR-AS1	Inversion (splice acceptor variant +2 more)	Cystic fibrosis	GLikely pathogenic
Select item 1162242	NM_000492.4(CFTR):c.1210-307GT[14]	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis	GLikely benign
Select item 3030509	NM_000492.4(CFTR):c.1210-34TG[15]	CFTR, CFTR-AS1	Microsatellite (intron variant)	CFTR-related disorder	GLikely benign
Select item 818121	NM_000492.4(CFTR):c.[1210-34TG[12];1210-9_1210-6del]	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis	GPathogenic
Select item 496577	NM_000492.4(CFTR):c.1210-34TG[13]	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis	GBenign
Select item 229652	NM_000492.4(CFTR):c.1210-34TG[12]	CFTR, CFTR-AS1	Microsatellite (intron variant)	not provided +5 more	GBenign
Select item 3029545	NM_000492.4(CFTR):c.1210-34TG[7]	CFTR, CFTR-AS1	Microsatellite (intron variant)	CFTR-related disorder	GLikely benign
Select item 1167538	NC_000007.13:g.117188661_117188689=	CFTR, CFTR-AS1	Variation (intron variant)	Cystic fibrosis	GBenign
Select item 818109	NM_000492.4(CFTR):c.1210-34=	CFTR-AS1, CFTR	Microsatellite (intron variant)	Cystic fibrosis	GBenign
Select item 439490	NM_000492.4(CFTR):c.1210-34TG[9]	CFTR, CFTR-AS1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 439488	NM_000492.3(CFTR):c.1210-17_1210-12del	CFTR, CFTR-AS1	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 439475	NM_000492.4(CFTR):c.1210-34TG[10]	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis +3 more	GBenign/Likely benign
Select item 291285	NM_000492.4(CFTR):c.1210-32T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2760925	NM_000492.4(CFTR):c.1210-30T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3049586	NM_000492.4(CFTR):c.1210-19_1210-13del	CFTR, CFTR-AS1	Deletion (intron variant)	CFTR-related disorder	GLikely benign
Select item 2709239	NM_000492.4(CFTR):c.1210-19G>A	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1168487	NM_000492.4(CFTR):c.1210-17_1210-10del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis	GBenign
Select item 1167174	NM_000492.4(CFTR):c.1210-17_1210-11del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis	GBenign
Select item 3231822	NM_000492.4(CFTR):c.1210-15_1210-11dup	CFTR, CFTR-AS1	Duplication (intron variant)	Cystic fibrosis	GLikely benign
Select item 2022089	NM_000492.4(CFTR):c.1210-17G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1750195	NM_000492.4(CFTR):c.1210-17_1210-13delinsTTT	CFTR, CFTR-AS1	Indel (intron variant)	Cystic fibrosis	GLikely benign
Select item 1167173	NM_000492.4(CFTR):c.1210-15_1210-10del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 2587611	NM_000492.4(CFTR):c.1210-13_1210-11dup	CFTR, CFTR-AS1	Duplication (intron variant)	Cystic fibrosis	GLikely benign
Select item 2019590	NM_000492.4(CFTR):c.1210-14_1210-13insTT	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis	GLikely benign
Select item 1750188	NM_000492.4(CFTR):c.1210-15_1210-13delinsTTT	CFTR, CFTR-AS1	Indel (intron variant)	Cystic fibrosis	GLikely benign
Select item 1750179	NM_000492.4(CFTR):c.1210-15_1210-13delinsTT	CFTR, CFTR-AS1	Indel (intron variant)	Cystic fibrosis	GLikely benign
Select item 996222	NM_000492.4(CFTR):c.1210-15G>A	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 818610	NM_000492.4(CFTR):c.1210-15del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +3 more	GLikely benign
Select item 811206	NM_000492.4(CFTR):c.1210-15_1210-13delinsT	CFTR, CFTR-AS1	Indel (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 502598	NM_000492.4(CFTR):c.1210-15G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1363525	NM_000492.4(CFTR):c.1210-13_1210-8del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 1167172	NM_000492.4(CFTR):c.1210-13_1210-11del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 291054	NM_000492.4(CFTR):c.1210-13_1210-10del	CFTR, CFTR-AS1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193590	NM_000492.4(CFTR):c.1210-14_1210-13insTG	CFTR-AS1, CFTR	Insertion (intron variant)	not specified	GBenign
Select item 3035641	NM_000492.4(CFTR):c.1210-9_1210-6dup	CFTR, CFTR-AS1	Duplication (intron variant)	CFTR-related disorder	GLikely benign
Select item 1169016	NM_000492.4(CFTR):c.1210-12_1210-11insGTT	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis	GBenign
Select item 1168489	NM_000492.4(CFTR):c.1210-13del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +5 more	GBenign/Likely benign
Select item 1168488	NM_000492.4(CFTR):c.1210-12_1210-11insGTGTTT	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis	GBenign
Select item 1166548	NM_000492.4(CFTR):c.1210-12_1210-11insGTGTT	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis	GBenign
Select item 1166547	NM_000492.4(CFTR):c.1210-6dup	CFTR, CFTR-AS1	Duplication (intron variant)	Cystic fibrosis	GBenign/Likely benign
Select item 1165280	NM_000492.4(CFTR):c.1210-12_1210-11insGTTT	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis	GBenign
Select item 162962	NM_000492.4(CFTR):c.1210-13G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +7 more	GBenign/Likely benign
Select item 161188	NM_000492.3(CFTR):c.1210-12T[9]	CFTR, CFTR-AS1	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1750164	NM_000492.4(CFTR):c.1210-11_1210-10insGTGT	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis	GLikely benign
Select item 1043026	NM_000492.4(CFTR):c.1210-12_1210-11insGTG	CFTR, CFTR-AS1	Insertion (intron variant)	not provided +1 more	GUncertain significance
Select item 818606	NM_000492.4(CFTR):c.1210-11_1210-10insGT	CFTR-AS1, CFTR	Insertion (intron variant)	Cystic fibrosis	GLikely benign
Select item 818155	NM_000492.4(CFTR):c.1210-9_1210-6del	CFTR, CFTR-AS1	Deletion (intron variant)	CFTR-related disorder +1 more	GPathogenic
Select item 495892	NM_000492.4(CFTR):c.1210-6del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 495891	NM_000492.3(CFTR):c.[1210-16_1210-13dup;1210-6delT]	CFTR, CFTR-AS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 439049	NM_000492.4(CFTR):c.1210-12_1210-11insG	CFTR, CFTR-AS1	Insertion (intron variant)	CFTR-related disorder +1 more	GUncertain significance
Select item 242535	NM_000492.3(CFTR):c.1210-12T[5]	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 38737	NM_000492.4(CFTR):c.1210-12=	CFTR-AS1, CFTR	Microsatellite (intron variant)	Cystic fibrosis	GBenign
Select item 1750156	NM_000492.4(CFTR):c.1210-11delinsGTGTG	CFTR-AS1, CFTR	Indel (intron variant)	Cystic fibrosis	GPathogenic
Select item 1750146	NM_000492.4(CFTR):c.1210-11_1210-10insGTG	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis	GUncertain significance
Select item 1674670	NM_000492.4(CFTR):c.1210-11_1210-9delinsG	CFTR, CFTR-AS1	Indel (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 818605	NM_000492.4(CFTR):c.1210-11delinsGTG	CFTR, CFTR-AS1	Indel (intron variant)	Cystic fibrosis +1 more	GPathogenic
Select item 802357	NM_000492.4(CFTR):c.1210-11_1210-10insG	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 178713	NM_000492.4(CFTR):c.1210-11T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +2 more	GPathogenic/Likely pathogenic; other
Select item 3048757	NM_000492.4(CFTR):c.1210-8T>C	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	CFTR-related disorder	GLikely benign
Select item 810947	NM_000492.4(CFTR):c.1210-6T>A	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1750234	NM_000492.4(CFTR):c.1210-5A>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 2920769	NM_000492.4(CFTR):c.1210-3C>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2680720	NM_000492.4(CFTR):c.1210-3C>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 634906	NM_000492.4(CFTR):c.1211_1392+1del	CFTR, CFTR-AS1	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 633167	NM_000492.4(CFTR):c.1210-2_1210-1del	CFTR-AS1, CFTR	Deletion (splice acceptor variant)	not specified +1 more	GLikely pathogenic
Select item 53218	NM_000492.4(CFTR):c.1210-2A>C	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 3336349	NM_000492.4(CFTR):c.1210-1G>T	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GLikely pathogenic
Select item 487376	NM_000492.4(CFTR):c.1211del	CFTR, CFTR-AS1	Deletion (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53217	NM_000492.4(CFTR):c.1210-1G>C	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GLikely pathogenic
Select item 2988284	NM_000492.4(CFTR):c.1210G>A (p.Gly404Arg)	CFTR, CFTR-AS1 (G404R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 495893	NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg)	CFTR, CFTR-AS1 (G404R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 634904	NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del	CFTR, CFTR-AS1	Deletion	Cystic fibrosis	GLikely pathogenic
Select item 455760	NM_000492.4(CFTR):c.1211G>T (p.Gly404Val)	CFTR, CFTR-AS1 (G404V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1750620	NM_000492.4(CFTR):c.1212A>T (p.Gly404=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 569152	NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu)	CFTR-AS1, CFTR (G406E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1591384	NM_000492.4(CFTR):c.1218G>A (p.Gly406=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 928981	NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)	CFTR, CFTR-AS1 (E407K)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
Select item 495894	NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)	CFTR, CFTR-AS1 (E407*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 1706072	NM_000492.4(CFTR):c.1221del (p.Glu407fs)	CFTR, CFTR-AS1 (E407fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53219	NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)	CFTR, CFTR-AS1 (E407V)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 1614893	NM_000492.4(CFTR):c.1221A>G (p.Glu407=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3009005	NM_000492.4(CFTR):c.1222T>C (p.Leu408=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2799782	NM_000492.4(CFTR):c.1224_1227del (p.Phe409fs)	CFTR, CFTR-AS1 (F409fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1685616	NM_000492.4(CFTR):c.1227_1228del (p.Phe409fs)	CFTR, CFTR-AS1 (F409fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GPathogenic

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