C3554241[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812746	NM_003742.4(ABCB11):c.3677G>T (p.Arg1226Leu)	ABCB11 (R1226L)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 812747	NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)	ABCB11 (E1223D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595557	NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser)	ABCB11 (P731S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 194842	NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)	ABCB11 (R698H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 812748	NM_003742.4(ABCB11):c.2075+2T>C	ABCB11	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
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 596905	NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln)	ABCB11 (E592Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 291278	NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly)	ABCB11 (D590G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812749	NM_003742.4(ABCB11):c.1623C>G (p.Ile541Met)	ABCB11 (I541M)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely 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 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 812975	NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter)	ABCB4 (Q1132* +2 more)	Single nucleotide variant (nonsense)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 501724	NM_000443.4(ABCB4):c.3486+1G>A	ABCB4	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis +1 more	GPathogenic/Likely pathogenic
Select item 812976	NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs)	ABCB4 (S1099fs +2 more)	Duplication (frameshift variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 195854	NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met)	ABCB4 (T1077M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812977	NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met)	ABCB4 (K1028M +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 587488	NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)	ABCB4 (R1046* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 812978	NM_000443.4(ABCB4):c.2882_2883del (p.Tyr961fs)	ABCB4 (Y961fs)	Microsatellite (frameshift variant +1 more)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 812921	NM_000443.4(ABCB4):c.2683-883_2783+345del	ABCB4	Deletion (splice acceptor variant +1 more)	Cholestasis, intrahepatic, of pregnancy, 3	GPathogenic
Select item 812979	NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter)	ABCB4 (Y852*)	Single nucleotide variant (nonsense)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 812980	NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser)	ABCB4 (A601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 812981	NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met)	ABCB4 (T593M)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GConflicting classifications of pathogenicity
Select item 291252	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	ABCB4 (N510S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 812982	NM_000443.4(ABCB4):c.1357-2A>C	ABCB4	Single nucleotide variant (splice acceptor variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 812983	NM_000443.4(ABCB4):c.1119+1G>T	ABCB4	Single nucleotide variant (splice donor variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 812984	NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	ABCB4 (S339fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13690	NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	ABCB4 (S320F)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +2 more	GPathogenic
Select item 812750	NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp)	ABCB4 (G302D)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 812751	NM_000443.4(ABCB4):c.893del (p.Asn298fs)	ABCB4 (N298fs)	Deletion (frameshift variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 812752	NM_000443.4(ABCB4):c.834-1G>A	ABCB4	Single nucleotide variant (splice acceptor variant)	Low phospholipid associated cholelithiasis	GLikely pathogenic
Select item 812753	NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer)	ABCB4	Deletion (frameshift variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 596680	NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	ABCB4 (R159*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +2 more	GPathogenic
Select item 812754	NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys)	ABCB4 (R150K)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +1 more	GPathogenic/Likely pathogenic

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Items: 33