"3billion"[submitter] AND "CFTR"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572408	NM_000492.4(CFTR):c.107A>C (p.Asp36Ala)	CFTR (D36A)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GUncertain significance
Select item 53556	NM_000492.4(CFTR):c.274-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1330059	NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp)	CFTR, CFTR-AS1 (G463D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 1333303	NM_000492.4(CFTR):c.1652G>T (p.Gly551Val)	CFTR, LOC111674475 (G551V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53378	NM_000492.4(CFTR):c.1766+3A>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 7137	NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	CFTR (R1162*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic