C0010674[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; 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 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 53352	NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)	CFTR (Y569D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53561	NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	CFTR (V920M)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 35866	NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	CFTR, LOC111674472 (R1070Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 17969	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SERPINA1 (E288V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Pathogenic, low penetrance; other

ClinVar