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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 551973	NM_000492.4(CFTR):c.1245_1247del (p.Asn418del)	CFTR-AS1, CFTR (N418del)	Deletion (inframe_deletion)	Cystic fibrosis	GUncertain significance
Select item 286406	NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)	CFTR, CFTR-AS1 (G424S)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
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 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 551988	NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	CFTR, CFTR-AS1 (I444T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 53233	NM_000492.4(CFTR):c.1340del (p.Lys447fs)	CFTR, CFTR-AS1 (K447fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 553569	NM_000492.4(CFTR):c.1352G>T (p.Gly451Val)	CFTR, CFTR-AS1 (G451V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 554212	NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)	CFTR-AS1, CFTR (A457P)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
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 35823	NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	CFTR, CFTR-AS1 (L467P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53250	NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)	CFTR, CFTR-AS1 (V470fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 556633	NM_000492.4(CFTR):c.1415dup (p.Met472fs)	CFTR, CFTR-AS1 (M472fs)	Duplication (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53251	NM_000492.4(CFTR):c.1418del (p.Gly473fs)	CFTR-AS1, CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53254	NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	CFTR, CFTR-AS1 (G480S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53258	NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys)	CFTR, CFTR-AS1 (S485C)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
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 555390	NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)	CFTR, CFTR-AS1 (C491F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 53262	NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)	CFTR, CFTR-AS1 (Q493P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 53270	NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)	CFTR, CFTR-AS1 (T501A)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53276	NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	CFTR, CFTR-AS1 (I506T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188863	NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)	CFTR, CFTR-AS1 (I507V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GBenign/Likely benign
Select item 550738	NM_000492.4(CFTR):c.1543T>C (p.Tyr515His)	CFTR, CFTR-AS1 (Y515H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 495901	NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)	CFTR, CFTR-AS1 (C524Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
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 53289	NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)	CFTR, CFTR-AS1 (E528D)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 53285	NM_000492.4(CFTR):c.1584+1G>A	CFTR, CFTR-AS1	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 550045	NM_000492.4(CFTR):c.1584+4A>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 553079	NM_000492.4(CFTR):c.1584+11_1584+13dup	CFTR-AS1, CFTR	Duplication (intron variant)	Cystic fibrosis	GLikely benign

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Items: 36