"Ambry Genetics"[submitter] AND "ABCB11"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2365200	NM_003742.4(ABCB11):c.3508A>T (p.Ile1170Leu)	ABCB11 (I1170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120526	NM_003742.4(ABCB11):c.3467T>C (p.Ile1156Thr)	ABCB11 (I1156T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 286567	NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr)	ABCB11 (C1117Y)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +2 more	GUncertain significance
Select item 2381609	NM_003742.4(ABCB11):c.3244G>T (p.Asp1082Tyr)	ABCB11 (D1082Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256904	NM_003742.4(ABCB11):c.3218A>G (p.Asn1073Ser)	ABCB11 (N1073S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521014	NM_003742.4(ABCB11):c.3213+1del	ABCB11	Deletion (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2330816	NM_003742.4(ABCB11):c.3136A>T (p.Ile1046Leu)	ABCB11 (I1046L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120372	NM_003742.4(ABCB11):c.3049G>A (p.Val1017Met)	ABCB11 (V1017M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120347	NM_003742.4(ABCB11):c.2992G>A (p.Ala998Thr)	ABCB11 (A998T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120323	NM_003742.4(ABCB11):c.2915A>T (p.Lys972Met)	ABCB11 (K972M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529675	NM_003742.4(ABCB11):c.2447A>C (p.Gln816Pro)	ABCB11 (Q816P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 291251	NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2362303	NM_003742.4(ABCB11):c.2194G>A (p.Val732Met)	ABCB11 (V732M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280894	NM_003742.4(ABCB11):c.2149C>T (p.His717Tyr)	ABCB11 (H717Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595284	NM_003742.4(ABCB11):c.2077G>A (p.Ala693Thr)	ABCB11 (A693T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2606394	NM_003742.4(ABCB11):c.2068A>G (p.Ser690Gly)	ABCB11 (S690G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340251	NM_003742.4(ABCB11):c.1735A>T (p.Ile579Phe)	ABCB11 (I579F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308366	NM_003742.4(ABCB11):c.1669G>A (p.Gly557Ser)	ABCB11 (G557S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496067	NM_003742.4(ABCB11):c.1607A>G (p.Asn536Ser)	ABCB11 (N536S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 291022	NM_003742.4(ABCB11):c.1360G>T (p.Val454Leu)	ABCB11 (V454L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2141989	NM_003742.4(ABCB11):c.1349T>C (p.Met450Thr)	ABCB11 (M450T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3119984	NM_003742.4(ABCB11):c.1276A>G (p.Thr426Ala)	ABCB11 (T426A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119947	NM_003742.4(ABCB11):c.1187C>T (p.Thr396Ile)	ABCB11 (T396I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498146	NM_003742.4(ABCB11):c.1064C>T (p.Thr355Ile)	ABCB11 (T355I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3120789	NM_003742.4(ABCB11):c.707T>C (p.Phe236Ser)	ABCB11 (F236S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120748	NM_003742.4(ABCB11):c.603A>T (p.Arg201Ser)	ABCB11 (R201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285428	NM_003742.4(ABCB11):c.481T>C (p.Cys161Arg)	ABCB11 (C161R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297683	NM_003742.4(ABCB11):c.430T>A (p.Tyr144Asn)	ABCB11 (Y144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120646	NM_003742.4(ABCB11):c.422T>C (p.Phe141Ser)	ABCB11 (F141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455754	NM_003742.4(ABCB11):c.416T>C (p.Ile139Thr)	ABCB11 (I139T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321354	NM_003742.4(ABCB11):c.355C>G (p.Leu119Val)	ABCB11 (L119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492020	NM_003742.4(ABCB11):c.284T>C (p.Val95Ala)	ABCB11 (V95A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120289	NM_003742.4(ABCB11):c.26G>A (p.Ser9Asn)	ABCB11 (S9N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33