"Baylor Genetics"[submitter] AND "CFTR-AS1"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178713	NM_000492.4(CFTR):c.1210-11T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic; other
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 53218	NM_000492.4(CFTR):c.1210-2A>C	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 487376	NM_000492.4(CFTR):c.1211del	CFTR-AS1, CFTR	Deletion (splice acceptor variant)	Cystic fibrosis	GPathogenic
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 1456282	NM_000492.4(CFTR):c.1261dup (p.Thr421fs)	CFTR, CFTR-AS1 (T421fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 618946	NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)	CFTR, CFTR-AS1 (S434*)	Single nucleotide variant (nonsense)	Cystic fibrosis +1 more	GPathogenic
Select item 3241140	NM_000492.4(CFTR):c.1313del (p.Thr438fs)	CFTR, CFTR-AS1 (T438fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 53226	NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)	CFTR, CFTR-AS1 (P439S)	Single nucleotide variant (missense variant)	Cystic fibrosis +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 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1449135	NM_000492.4(CFTR):c.1334del (p.Asn445fs)	CFTR, CFTR-AS1 (N445fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53233	NM_000492.4(CFTR):c.1340del (p.Lys447fs)	CFTR, CFTR-AS1 (K447fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 2680689	NM_000492.4(CFTR):c.1351G>T (p.Gly451Ter)	CFTR, CFTR-AS1 (G451*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 7111	NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	CFTR, CFTR-AS1 (A455E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53237	NM_000492.4(CFTR):c.1373del (p.Gly458fs)	CFTR, CFTR-AS1 (G458fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
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 495896	NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	CFTR, CFTR-AS1 (T465N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 53245	NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)	CFTR, CFTR-AS1 (S466L)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 35822	NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	CFTR, CFTR-AS1 (S466*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53246	NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	CFTR, CFTR-AS1 (L467F)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 35823	NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	CFTR, CFTR-AS1 (L467P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53251	NM_000492.4(CFTR):c.1418del (p.Gly473fs)	CFTR-AS1, CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 2680725	NM_000492.4(CFTR):c.1423del (p.Leu475fs)	CFTR, CFTR-AS1 (L475fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 7187	NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic
Select item 53255	NM_000492.4(CFTR):c.1439G>A (p.Gly480Asp)	CFTR, CFTR-AS1 (G480D)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 1438022	NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs)	CFTR, CFTR-AS1 (S489fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 53259	NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)	CFTR, CFTR-AS1 (S489*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 2680707	NM_000492.4(CFTR):c.1468_1471del (p.Phe490fs)	CFTR, CFTR-AS1 (F490fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 439054	NM_000492.4(CFTR):c.1469del (p.Phe490fs)	CFTR, CFTR-AS1 (F490fs)	Deletion (frameshift variant)	Cystic fibrosis +3 more	GPathogenic/Likely pathogenic
Select item 7155	NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	CFTR, CFTR-AS1 (S492F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7107	NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	CFTR, CFTR-AS1 (Q493*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53272	NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)	CFTR, CFTR-AS1 (I502T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53275	NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)	CFTR, CFTR-AS1 (I506L)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 53280	NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)	CFTR, CFTR-AS1 (D513G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7140	NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)	CFTR, CFTR-AS1	Microsatellite (nonsense)	Cystic fibrosis	GPathogenic
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 7151	NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)	CFTR, CFTR-AS1 (C524*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 552690	NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)	CFTR, CFTR-AS1 (E527G)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 53287	NM_000492.4(CFTR):c.1584+2T>C	CFTR, CFTR-AS1	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic

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Items: 43