ClinVar for MedGen (Select 356333) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687836	NM_000443.4(ABCB4):c.1906C>T (p.Gln636Ter)	ABCB4 (Q636*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687822	NM_000443.4(ABCB4):c.2064+5G>A	ABCB4	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 2687821	NM_000443.4(ABCB4):c.784del (p.Ala262fs)	ABCB4 (A262fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687820	NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)	ABCB4 (C955F)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687819	NM_000443.4(ABCB4):c.1634G>A (p.Arg545His)	ABCB4 (R545H)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687818	NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)	ABCB4 (K30fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687817	NM_000443.4(ABCB4):c.944C>A (p.Ala315Asp)	ABCB4 (A315D)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687816	NM_000443.4(ABCB4):c.1571C>A (p.Thr524Asn)	ABCB4 (T524N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687815	NM_000443.4(ABCB4):c.1635del (p.Ala546fs)	ABCB4 (A546fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687814	NM_000443.4(ABCB4):c.1429C>T (p.Gln477Ter)	ABCB4 (Q477*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2687813	NM_000443.4(ABCB4):c.3412del (p.Val1138fs)	ABCB4 (V1091fs +2 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687812	NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)	ABCB4 (W51*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2687811	NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)	ABCB4 (A578V)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687810	NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)	ABCB4 (Q1210fs +2 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687809	NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)	ABCB4 (P479L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2687808	NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)	ABCB4 (F769fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2687807	NM_000443.4(ABCB4):c.2861G>A (p.Gly954Asp)	ABCB4 (G954D)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2663955	NM_000443.4(ABCB4):c.3193C>G (p.Leu1065Val)	ABCB4 (L1018V +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 2663926	NM_000443.4(ABCB4):c.1678A>G (p.Thr560Ala)	ABCB4 (T560A)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 2585543	NM_000443.4(ABCB4):c.3081+1G>T	ABCB4	Single nucleotide variant (splice donor variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2584796	NM_000443.4(ABCB4):c.3737A>C (p.Gln1246Pro)	ABCB4 (Q1199P +2 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
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 2501669	NM_000443.4(ABCB4):c.3220G>A (p.Gly1074Arg)	ABCB4 (G1027R +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 2498174	NM_000443.4(ABCB4):c.135+26A>G	ABCB4	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 2498173	NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)	ABCB4 (E734*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 2431406	NM_000443.4(ABCB4):c.2876G>C (p.Gly959Ala)	ABCB4 (G959A)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 2136551	NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)	ABCB4 (G954S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1687349	NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly)	ABCB4 (R928G)	Single nucleotide variant (missense variant)	ABCB4-related condition +1 more	GUncertain significance
Select item 1687293	NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser)	ABCB4 (P404S)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
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 1028758	NM_000443.4(ABCB4):c.1134C>T (p.Asp378=)	ABCB4	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 982084	NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)	ABCB4 (E898K)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic/Likely pathogenic
Select item 973520	NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter)	ABCB4 (K292*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 973519	NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter)	ABCB4 (R595*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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)	Progressive familial intrahepatic cholestasis type 3 +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 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)	Progressive familial intrahepatic cholestasis type 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)	Progressive familial intrahepatic cholestasis type 3 +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 condition +2 more	GUncertain significance
Select item 812984	NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	ABCB4 (S339fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 802328	NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)	ABCB4 (Q572*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +2 more	GPathogenic
Select item 802327	NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)	ABCB4 (R582Q)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 635317	NM_000443.4(ABCB4):c.3077del (p.Lys1026fs)	ABCB4 (K979fs +1 more)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 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)	not provided +4 more	GUncertain significance
Select item 596999	NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr)	ABCB4 (I490T)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +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 594341	NM_000443.4(ABCB4):c.2211G>A (p.Ala737=)	ABCB4	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 3 +1 more	GUncertain significance
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 502777	NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val)	ABCB4 (G773V)	Single nucleotide variant (missense variant)	not provided +1 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 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 498031	NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter)	ABCB4 (E382*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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)	Low phospholipid associated cholelithiasis +4 more	GUncertain significance
Select item 372802	NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)	ABCB4 (R176W)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +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)	ABCB4-related condition +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)	ABCB4-related condition +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 291252	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	ABCB4 (N510S)	Single nucleotide variant (missense variant)	ABCB4-related condition +6 more	GConflicting classifications of pathogenicity
Select item 289975	NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg)	ABCB4	Single nucleotide variant (stop lost)	Progressive familial intrahepatic cholestasis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 282951	NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +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)	ABCB4-related condition +7 more	GConflicting classifications of pathogenicity
Select item 281138	NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)	ABCB4	Single nucleotide variant (synonymous variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GBenign/Likely benign

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