"PreventionGenetics, part of Exact Sciences"[submitter] AND "CFTR-AS1" - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030509	NM_000492.4(CFTR):c.1210-34TG[15]	CFTR, CFTR-AS1	Microsatellite (intron variant)	CFTR-related disorder	GLikely benign
Select item 496577	NM_000492.4(CFTR):c.1210-34TG[13]	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis +1 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 439490	NM_000492.4(CFTR):c.1210-34TG[9]	CFTR, CFTR-AS1	Microsatellite (intron variant)	CFTR-related disorder +2 more	GBenign/Likely benign
Select item 439488	NM_000492.3(CFTR):c.1210-17_1210-12del	CFTR-AS1, CFTR	Microsatellite (intron variant)	Cystic fibrosis +2 more	GBenign/Likely 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 2019590	NM_000492.4(CFTR):c.1210-14_1210-13insTT	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis +1 more	GLikely benign
Select item 818610	NM_000492.4(CFTR):c.1210-15del	CFTR, CFTR-AS1	Deletion (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GLikely benign
Select item 1167172	NM_000492.4(CFTR):c.1210-13_1210-11del	CFTR, CFTR-AS1	Deletion (intron variant)	CFTR-related disorder +1 more	GConflicting classifications of pathogenicity
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 1168489	NM_000492.4(CFTR):c.1210-13del	CFTR, CFTR-AS1	Deletion (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 1166547	NM_000492.4(CFTR):c.1210-6dup	CFTR, CFTR-AS1	Duplication (intron variant)	CFTR-related disorder +1 more	GBenign/Likely benign
Select item 1165280	NM_000492.4(CFTR):c.1210-12_1210-11insGTTT	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis +1 more	GBenign/Likely benign
Select item 162962	NM_000492.4(CFTR):c.1210-13G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 1043026	NM_000492.4(CFTR):c.1210-12_1210-11insGTG	CFTR, CFTR-AS1	Insertion (intron variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
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 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 +2 more	GConflicting classifications of pathogenicity
Select item 281883	NM_000492.4(CFTR):c.1227T>C (p.Phe409=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188958	NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	CFTR, CFTR-AS1 (I444fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 411125	NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)	CFTR, CFTR-AS1 (A455V)	Single nucleotide variant (missense variant)	CFTR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 35820	NM_000492.4(CFTR):c.1365G>A (p.Ala455=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 237854	NM_000492.4(CFTR):c.1393-42G>A	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 53242	NM_000492.4(CFTR):c.1393-1G>A	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7130	NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	CFTR, CFTR-AS1 (V470M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 439478	NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	CFTR, CFTR-AS1 (E479D)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GUncertain significance
Select item 495898	NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)	CFTR, CFTR-AS1 (P499S)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 290277	NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)	CFTR, CFTR-AS1 (G500D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3030860	NM_000492.4(CFTR):c.1500C>T (p.Gly500=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GLikely benign
Select item 7131	NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	CFTR, CFTR-AS1 (I506V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7126	NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	CFTR, CFTR-AS1 (F508C)	Single nucleotide variant (missense variant)	Obstructive azoospermia +5 more	GConflicting classifications of pathogenicity
Select item 1774855	NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)	CFTR, CFTR-AS1 (E514G)	Single nucleotide variant (missense variant)	CFTR-related disorder +1 more	GUncertain significance
Select item 256249	NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)	CFTR-AS1, CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 35825	NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 7150	NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)	CFTR, CFTR-AS1 (V520F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 3051267	NM_000492.4(CFTR):c.1569A>G (p.Ala523=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	CFTR-related disorder	GLikely benign
Select item 35826	NM_000492.4(CFTR):c.1581A>G (p.Glu527=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 502030	NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)	CFTR, CFTR-AS1 (E528K)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more	GConflicting classifications of pathogenicity
Select item 35827	NM_000492.4(CFTR):c.1584+12T>C	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 3036225	NM_000492.4(CFTR):c.1584+49_1584+50del	CFTR, CFTR-AS1	Microsatellite (intron variant)	CFTR-related disorder	GLikely benign
Select item 3044012	NM_000492.4(CFTR):c.1584+66T>C	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	CFTR-related disorder	GLikely benign
Select item 3046689	NM_000492.4(CFTR):c.1584+70G>A	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	CFTR-related disorder	GLikely benign

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Items: 44