"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CFTR-AS1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229652	NM_000492.4(CFTR):c.1210-34TG[12]	CFTR, CFTR-AS1	Microsatellite (intron variant)	not provided +5 more	GBenign
Select item 818610	NM_000492.4(CFTR):c.1210-15del	CFTR, CFTR-AS1	Deletion (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GLikely benign
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 162962	NM_000492.4(CFTR):c.1210-13G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 928981	NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)	CFTR, CFTR-AS1 (E407K)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 53224	NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)	CFTR-AS1, CFTR (N418S)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	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 188958	NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	CFTR, CFTR-AS1 (I444fs)	Duplication (frameshift 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 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 35823	NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	CFTR, CFTR-AS1 (L467P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 439478	NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	CFTR-AS1, CFTR (E479D)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 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 7107	NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	CFTR, CFTR-AS1 (Q493*)	Single nucleotide variant (nonsense)	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 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
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