C3489789[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1075698	NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)	ABCB11 (Q1258*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1410817	NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)	ABCB11 (R1235*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2 +2 more	GPathogenic
Select item 287364	NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)	ABCB11 (R1231Q)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic
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 597949	NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys)	ABCB11 (R1226C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 943967	NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)	ABCB11 (T1210P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1076791	NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)	ABCB11 (R1153H)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 288726	NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	ABCB11 (R1153C)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 639640	NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)	ABCB11 (R1128C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 6596	NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)	ABCB11 (R1057*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 595313	NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg)	ABCB11 (G982R)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic
Select item 598092	NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)	ABCB11, LOC126806400 (R948C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 6594	NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs)	ABCB11, LOC126806400 (K930fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 498679	NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)	ABCB11, LOC126806400 (G877R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 501603	NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)	ABCB11 (R832C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 417884	NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)	ABCB11 (Q794*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1070201	NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)	ABCB11 (F774fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 290133	NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)	ABCB11 (G766R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +3 more	GPathogenic
Select item 596620	NM_003742.4(ABCB11):c.2178+1G>A	ABCB11	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis type 2 +2 more	GPathogenic
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 284637	NM_003742.4(ABCB11):c.2012-8T>G	ABCB11	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 594531	NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)	ABCB11 (A588V)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +3 more	GPathogenic
Select item 6589	NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)	ABCB11 (R575*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 288100	NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)	ABCB11 (A570T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 951369	NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	ABCB11 (I498T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 290081	NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	ABCB11 (R487H)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 288555	NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)	ABCB11 (D482G)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +3 more	GPathogenic
Select item 1383688	NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)	ABCB11 (Y472C)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 956883	NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)	ABCB11 (R470Q)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +2 more	GPathogenic
Select item 1446319	NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)	ABCB11 (R415*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2 +2 more	GPathogenic
Select item 6590	NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	ABCB11 (E297G)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +3 more	GPathogenic
Select item 1446326	NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	ABCB11 (S226L)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1526234	NM_003742.4(ABCB11):c.611+1G>A	ABCB11	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 500323	NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)	ABCB11 (E135K)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 594630	NM_003742.4(ABCB11):c.379del (p.Thr127fs)	ABCB11 (T127fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic
Select item 3240374	NM_003742.4(ABCB11):c.149T>C (p.Leu50Ser)	ABCB11 (L50S)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 625825	GRCh37/hg19 2q31.1(chr2:169824976-169830328)	ABCB11	Copy number loss	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 7271	NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	ATP8B1 (D70N)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity

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Items: 38