"CFTR2"[submitter] AND "LOC113664106"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66105	NM_000492.3(CFTR):c.54-5940_273+10250del	CFTR, LOC113664106 +1 more	Deletion	Cystic fibrosis	GPathogenic
Select item 53317	NM_000492.4(CFTR):c.165-3C>T	CFTR, LOC113664106	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53314	NM_000492.4(CFTR):c.165-1G>A	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53325	NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	CFTR, LOC113664106 (E56K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 53343	NM_000492.4(CFTR):c.168del (p.Glu56fs)	CFTR, LOC113664106 (E56fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53347	NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)	LOC113664106, CFTR (W57G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53355	NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7179	NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53373	NM_000492.4(CFTR):c.174_177del (p.Asp58fs)	CFTR, LOC113664106 (D58fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487400	NM_000492.4(CFTR):c.175dup (p.Arg59fs)	CFTR, LOC113664106 (R59fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53386	NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)	CFTR, LOC113664106 (E60K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38730	NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	CFTR, LOC113664106 (E60*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic