ClinVar for MedGen (Select 767155) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233386	NM_000443.4(ABCB4):c.1560+3A>G	ABCB4	Single nucleotide variant (intron variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 3067871	NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr)	ABCB4 (A256T)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3067853	NM_000443.4(ABCB4):c.1196T>C (p.Val399Ala)	ABCB4 (V399A)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3065923	NM_000443.4(ABCB4):c.1846G>C (p.Glu616Gln)	ABCB4 (E616Q)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 3065637	NM_000443.4(ABCB4):c.3506G>A (p.Gly1169Glu)	ABCB4 (G1122E +2 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3065357	NM_000443.4(ABCB4):c.742G>C (p.Ala248Pro)	ABCB4 (A248P)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 3065138	NM_000443.4(ABCB4):c.334G>T (p.Glu112Ter)	ABCB4 (E112*)	Single nucleotide variant (nonsense)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3064873	NM_000443.4(ABCB4):c.1528A>G (p.Asn510Asp)	ABCB4 (N510D)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 3064724	NM_000443.4(ABCB4):c.793A>T (p.Thr265Ser)	ABCB4 (T265S)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 3064147	NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)	ABCB4	Single nucleotide variant (stop lost)	Cholestasis, intrahepatic, of pregnancy, 3	GLikely pathogenic
Select item 2775432	NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro)	ABCB4 (A794P)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GLikely pathogenic
Select item 2582603	NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)	ABCB4 (G384V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2271397	NM_000443.4(ABCB4):c.2287A>T (p.Ile763Phe)	ABCB4 (I763F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1685490	NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)	ABCB4 (R582W)	Single nucleotide variant (missense variant)	Low phospholipid associated cholelithiasis +1 more	GConflicting classifications of pathogenicity
Select item 1188877	NM_000443.4(ABCB4):c.1357-40A>G	ABCB4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1188876	NM_000443.4(ABCB4):c.2211+72T>C	ABCB4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 931717	NM_000443.4(ABCB4):c.2161A>C (p.Asn721His)	ABCB4 (N721H)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 912150	NM_000443.4(ABCB4):c.697G>A (p.Val233Ile)	ABCB4 (V233I)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GUncertain significance
Select item 912034	NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala)	ABCB4 (V864A)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 911979	NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 911978	NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His)	ABCB4 (R1232H +2 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 910928	NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu)	ABCB4 (F269L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 910927	NM_000443.4(ABCB4):c.1005+3A>G	ABCB4	Single nucleotide variant (intron variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 910926	NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu)	ABCB4 (P352L)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GUncertain significance
Select item 910814	NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=)	ABCB4	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 910093	NM_000443.4(ABCB4):c.109G>T (p.Val37Leu)	ABCB4 (V37L)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 910092	NM_000443.4(ABCB4):c.147C>A (p.Ser49=)	ABCB4	Single nucleotide variant (synonymous variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 910030	NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val)	ABCB4 (A426V)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 910029	NM_000443.4(ABCB4):c.1281G>C (p.Leu427=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909967	NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu)	ABCB4 (I738L)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 909966	NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu)	ABCB4 (Q748E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 909965	NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met)	ABCB4 (T775M)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GConflicting classifications of pathogenicity
Select item 909912	NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg)	ABCB4 (L1110R +2 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 909119	NM_000443.4(ABCB4):c.2340C>A (p.Gly780=)	ABCB4	Single nucleotide variant (synonymous variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 909118	NM_000443.4(ABCB4):c.2478+7A>T	ABCB4	Single nucleotide variant (intron variant)	ABCB4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 909117	NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe)	ABCB4 (V864F)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 909052	NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp)	ABCB4 (R1090W +2 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +1 more	GUncertain significance
Select item 909051	NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909050	NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val)	ABCB4 (I1138V +2 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +1 more	GUncertain significance
Select item 908141	NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala)	ABCB4 (T171A)	Single nucleotide variant (missense variant)	ABCB4-related disorder +2 more	GUncertain significance
Select item 812984	NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	ABCB4 (S339fs)	Duplication (frameshift variant)	ABCB4-related disorder +2 more	GConflicting classifications of pathogenicity
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 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 812981	NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met)	ABCB4 (T593M)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
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 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 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 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 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 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 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 812754	NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys)	ABCB4 (R150K)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	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 812752	NM_000443.4(ABCB4):c.834-1G>A	ABCB4	Single nucleotide variant (splice acceptor 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 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 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 812748	NM_003742.4(ABCB11):c.2075+2T>C	ABCB11	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis	GLikely pathogenic
Select item 812747	NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)	ABCB11 (E1223D)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GConflicting classifications of pathogenicity
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 617459	NM_000443.4(ABCB4):c.2044del (p.Asp682fs)	ABCB4 (D682fs)	Deletion (frameshift variant)	Cholestasis, intrahepatic, of pregnancy, 3	GPathogenic
Select item 598178	NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 598093	NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)	ABCB4 (E1099G +2 more)	Single nucleotide variant (missense variant)	Low phospholipid associated cholelithiasis +4 more	GUncertain significance
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 596680	NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	ABCB4 (R159*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +3 more	GPathogenic
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 595095	NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe)	ABCB4 (I460F)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 594313	NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)	ABCB4 (T651N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 593434	NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met)	ABCB4 (T1166M +2 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +2 more	GUncertain significance
Select item 587488	NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)	ABCB4 (R1046* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 3 +3 more	GPathogenic/Likely pathogenic
Select item 501724	NM_000443.4(ABCB4):c.3486+1G>A	ABCB4	Single nucleotide variant (splice donor variant)	ABCB4-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 501529	NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro)	ABCB4 (L260P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 383483	NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 382988	NM_000443.4(ABCB4):c.2325G>C (p.Thr775=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 381720	NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)	ABCB4 (T715I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 381404	NM_000443.4(ABCB4):c.2952A>G (p.Ala984=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 374521	NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)	ABCB4 (L73V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 372802	NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)	ABCB4 (R176W)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GPathogenic/Likely pathogenic
Select item 360805	NM_000443.4(ABCB4):c.-18G>T	ABCB4, LOC129998757	Single nucleotide variant (5 prime UTR variant)	Progressive familial intrahepatic cholestasis type 3 +2 more	GUncertain significance
Select item 360804	NM_000443.4(ABCB4):c.-6-4T>C	ABCB4, LOC129998756	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 360803	NM_000443.4(ABCB4):c.696C>T (p.Ala232=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 360802	NM_000443.4(ABCB4):c.927T>C (p.Tyr309=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360801	NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln)	ABCB4 (R595Q)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GUncertain significance
Select item 360800	NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu)	ABCB4 (K620E)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 360799	NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 360798	NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val)	ABCB4 (G657V)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +1 more	GUncertain significance
Select item 360797	NM_000443.4(ABCB4):c.1982G>A (p.Arg661His)	ABCB4 (R661H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 360796	NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)	ABCB4 (V683M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 360795	NM_000443.4(ABCB4):c.2055C>T (p.Thr685=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360794	NM_000443.4(ABCB4):c.2137G>A (p.Val713Met)	ABCB4 (V713M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 360793	NM_000443.4(ABCB4):c.2535T>C (p.Gly845=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360792	NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360791	NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 360790	NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 291252	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	ABCB4 (N510S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 284637	NM_003742.4(ABCB11):c.2012-8T>G	ABCB11	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 282951	NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)	ABCB4	Single nucleotide variant (synonymous variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GConflicting classifications of pathogenicity
Select item 281139	NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)	ABCB4 (A934T)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 1 +7 more	GConflicting classifications of pathogenicity

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