C3489789[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973516	NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)	ABCB11 (R1231W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 973515	NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)	ABCB11 (R1128G)	Single nucleotide variant (missense variant)	Familial intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 973518	NM_003742.4(ABCB11):c.2178+2T>C	ABCB11	Single nucleotide variant (splice donor variant)	Familial intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 595385	NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	ABCB11 (S699P)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +3 more	GConflicting classifications of pathogenicity
Select item 973514	NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)	ABCB11 (G386*)	Single nucleotide variant (nonsense)	Familial intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 973517	NM_003742.4(ABCB11):c.908+1G>C	ABCB11	Single nucleotide variant (splice donor variant)	Familial intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic

ClinVar