CFTR Gly27* - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697266	NM_001379610.1(SPINK1):c.80G>A (p.Gly27Glu)	SPINK1 (G27E)	Single nucleotide variant (missense variant)	Tropical pancreatitis +1 more	GUncertain significance
Select item 54061	NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)	CFTR (G27*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54059	NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)	CFTR (G27R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 495958	NM_000492.4(CFTR):c.80G>T (p.Gly27Val)	CFTR (G27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 54062	NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)	CFTR (G27E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 843019	NM_002769.5(PRSS1):c.80G>A (p.Gly27Asp)	PRSS1, TRB (G27D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1535649	NM_002769.5(PRSS1):c.81C>T (p.Gly27=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign

ClinVar