C0238339[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 53561	NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	CFTR (V920M)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +6 more	GUncertain significance
Select item 973568	NC_000007.14:g.142749126_142753040dup	PRSS1, TRB	Duplication	Hereditary pancreatitis	GPathogenic
Select item 11876	NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	PRSS1, TRB (R122H)	Single nucleotide variant (missense variant)	PRSS1-related condition +2 more	GPathogenic
Select item 973567	NC_000007.13:g.141443350_142460881dup	CLEC5A, MGAM +11 more	Duplication	Hereditary pancreatitis	GPathogenic

ClinVar