"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1116744 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 810180	NM_000492.4(CFTR):c.1634G>A (p.Gly545Glu)	CFTR, LOC111674475 (G545E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 40190	NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	LOC111674475, CFTR (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response

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ClinVar