"Genome-Nilou Lab"[submitter] AND "ABCB11"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184712	NM_003742.4(ABCB11):c.3766-34A>G	ABCB11	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GBenign
Select item 259152	NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=)	ABCB11	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 2 +3 more	GBenign
Select item 1028652	NM_003742.4(ABCB11):c.2488del (p.Arg830fs)	ABCB11 (R830fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GPathogenic
Select item 259148	NM_003742.4(ABCB11):c.2344-17T>C	ABCB11	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1184646	NM_003742.4(ABCB11):c.2344-157T>G	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2 +2 more	GBenign
Select item 259147	NM_003742.4(ABCB11):c.2179-17C>A	ABCB11	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 290851	NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)	ABCB11 (R696Q)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1182069	NM_003742.4(ABCB11):c.1638+80C>T	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184647	NM_003742.4(ABCB11):c.1638+32T>C	ABCB11	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GBenign
Select item 1184648	NM_003742.4(ABCB11):c.1434+70C>T	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 194214	NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala)	ABCB11 (V444A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1184649	NM_003742.4(ABCB11):c.1309-93G>A	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 259158	NM_003742.4(ABCB11):c.909-15A>G	ABCB11	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1184662	NM_003742.4(ABCB11):c.908+108A>G	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 259151	NM_003742.4(ABCB11):c.270T>C (p.Phe90=)	ABCB11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259160	NM_003742.4(ABCB11):c.99-18T>C	ABCB11	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1195889	NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)	ABCB11 (E21K)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GConflicting classifications of pathogenicity