"Counsyl"[submitter] AND "LOC111674477"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439084	NM_000492.4(CFTR):c.4243-20A>G	LOC111674477, CFTR	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 552958	NM_000492.4(CFTR):c.4243-2A>G	CFTR, LOC111674477	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 557586	NM_000492.4(CFTR):c.4252del (p.Glu1418fs)	CFTR, LOC111674477 (E1418fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53934	NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)	CFTR, LOC111674477 (E1418*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 555210	NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)	CFTR, LOC111674477 (Y1424*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 371349	NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)	CFTR, LOC111674477 (Y1424*)	Single nucleotide variant (nonsense)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 53937	NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)	CFTR, LOC111674477 (S1426P)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 557850	NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del)	CFTR, LOC111674477	Deletion (inframe_deletion)	Cystic fibrosis	GUncertain significance
Select item 370324	NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	CFTR, LOC111674477 (S1435fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 558578	NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	CFTR, LOC111674477 (E1433*)	Single nucleotide variant (nonsense)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 558250	NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)	LOC111674477, CFTR (E1433K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 553936	NM_000492.4(CFTR):c.4329del (p.Ser1444fs)	CFTR, LOC111674477 (S1444fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 554395	NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)	CFTR, LOC111674477	Deletion (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GLikely pathogenic
Select item 555581	NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter)	CFTR, LOC111674477 (S1455*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 53947	NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	CFTR, LOC111674477 (Q1476*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis +6 more	GPathogenic/Likely pathogenic