"CFTR2"[submitter] AND "CFTR-AS1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 53222	NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)	CFTR, CFTR-AS1 (Q414*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53225	NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs)	CFTR, CFTR-AS1	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 554406	NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)	CFTR, CFTR-AS1 (S434*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 188958	NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	CFTR, CFTR-AS1 (I444fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53231	NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)	CFTR, CFTR-AS1	Microsatellite (nonsense)	Cystic fibrosis	GPathogenic
Select item 53233	NM_000492.4(CFTR):c.1340del (p.Lys447fs)	CFTR, CFTR-AS1 (K447fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 634834	NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser)	CFTR, CFTR-AS1 (L453S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 209061	NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)	CFTR, CFTR-AS1 (V456fs)	Deletion (frameshift 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 53243	NM_000492.4(CFTR):c.1393-2A>G	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor 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 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 53244	NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)	CFTR, CFTR-AS1 (S466*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 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 634836	NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)	CFTR, CFTR-AS1 (E474K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 7155	NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	CFTR, CFTR-AS1 (S492F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7219	NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)	CFTR, CFTR-AS1 (Q493fs)	Deletion (frameshift 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 53265	NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)	CFTR-AS1, CFTR (W496*)	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 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	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 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 1300167	NM_000492.4(CFTR):c.[1523T>G;3752G>A]	CFTR, CFTR-AS1 (F508C +1 more)	Single nucleotide variant (missense variant)	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 53282	NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)	CFTR, CFTR-AS1 (Q525*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53285	NM_000492.4(CFTR):c.1584+1G>A	CFTR, CFTR-AS1	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic

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Items: 38