"ABCB4-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017294	NM_000443.4(ABCB4):c.3765G>A (p.Thr1255=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1049446	NM_000443.4(ABCB4):c.3764C>T (p.Thr1255Met)	ABCB4 (T1208M +2 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder +1 more	GUncertain significance
Select item 3046330	NM_000443.4(ABCB4):c.3751A>C (p.Lys1251Gln)	ABCB4 (K1204Q +2 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 2901806	NM_000443.4(ABCB4):c.3705C>T (p.Thr1235=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 501851	NM_000443.4(ABCB4):c.3633+1G>T	ABCB4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 3029990	NM_000443.4(ABCB4):c.3521A>T (p.Gln1174Leu)	ABCB4 (Q1127L +2 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 2631242	NM_000443.4(ABCB4):c.3497C>G (p.Thr1166Arg)	ABCB4 (T1119R +2 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3061380	NM_000443.4(ABCB4):c.3486+1G>C	ABCB4	Single nucleotide variant (splice donor variant)	ABCB4-related disorder	GLikely pathogenic
Select item 501724	NM_000443.4(ABCB4):c.3486+1G>A	ABCB4	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 287236	NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 597154	NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2728073	NM_000443.4(ABCB4):c.3381C>G (p.Ala1127=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2150294	NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)	ABCB4 (C1124fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 509769	NM_000443.4(ABCB4):c.3336C>T (p.Leu1112=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 502068	NM_000443.4(ABCB4):c.3298G>A (p.Ala1100Thr)	ABCB4 (A1100T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598093	NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)	ABCB4 (E1099G +2 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +4 more	GUncertain significance
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 2634769	NM_000443.4(ABCB4):c.3280-23A>G	ABCB4	Single nucleotide variant (intron variant +1 more)	ABCB4-related disorder	GUncertain significance
Select item 1335675	NM_000443.4(ABCB4):c.3257A>C (p.Tyr1086Ser)	ABCB4 (Y1039S +1 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder +1 more	GLikely pathogenic
Select item 597086	NM_000443.4(ABCB4):c.3250C>T (p.Arg1084Trp)	ABCB4 (R1084W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2673111	NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)	ABCB4 (E1011K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498801	NM_000443.4(ABCB4):c.3131C>T (p.Pro1044Leu)	ABCB4 (P1044L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2905106	NM_000443.4(ABCB4):c.3117C>T (p.Val1039=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 498331	NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2857782	NM_000443.4(ABCB4):c.3090T>C (p.Phe1030=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2635663	NM_000443.4(ABCB4):c.3050T>C (p.Ile1017Thr)	ABCB4 (I1017T +1 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 594880	NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 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
Select item 1687349	NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly)	ABCB4 (R928G)	Single nucleotide variant (missense variant)	ABCB4-related disorder +1 more	GUncertain significance
Select item 2637025	NM_000443.4(ABCB4):c.2704A>G (p.Asn902Asp)	ABCB4 (N902D)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 501509	NM_000443.4(ABCB4):c.2581T>G (p.Leu861Val)	ABCB4 (L861V)	Single nucleotide variant (missense variant)	not provided +2 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 3036796	NM_000443.4(ABCB4):c.2446A>G (p.Arg816Gly)	ABCB4 (R816G)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 597589	NM_000443.4(ABCB4):c.2435C>A (p.Ala812Glu)	ABCB4 (A812E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3031884	NM_000443.4(ABCB4):c.2395-1G>A	ABCB4	Single nucleotide variant (splice acceptor variant)	ABCB4-related disorder	GLikely pathogenic
Select item 500798	NM_000443.4(ABCB4):c.2395-3T>C	ABCB4	Single nucleotide variant (intron variant)	ABCB4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2628516	NM_000443.4(ABCB4):c.2371G>T (p.Ala791Ser)	ABCB4 (A791S)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3033225	NM_000443.4(ABCB4):c.2341G>C (p.Glu781Gln)	ABCB4 (E781Q)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 871118	NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 194708	NM_000443.4(ABCB4):c.2211+1G>A	ABCB4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 194709	NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)	ABCB4 (P726L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 288449	NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala)	ABCB4 (G722A)	Single nucleotide variant (missense variant)	ABCB4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 381720	NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)	ABCB4 (T715I)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +4 more	GUncertain significance
Select item 2964355	NM_000443.4(ABCB4):c.2100C>G (p.Val700=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3037030	NM_000443.4(ABCB4):c.2064T>C (p.Leu688=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder	GLikely benign
Select item 360796	NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)	ABCB4 (V683M)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GConflicting classifications of pathogenicity
Select item 501937	NM_000443.4(ABCB4):c.1963C>G (p.Pro655Ala)	ABCB4 (P655A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 256159	NM_000443.4(ABCB4):c.1893+6T>C	ABCB4	Single nucleotide variant (intron variant)	ABCB4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3048150	NM_000443.4(ABCB4):c.1864G>A (p.Gly622Arg)	ABCB4 (G622R)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 594315	NM_000443.4(ABCB4):c.1821A>C (p.Val607=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 13697	NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)	ABCB4 (R590Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 594006	NM_000443.4(ABCB4):c.1723C>T (p.Leu575=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13689	NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)	ABCB4 (A546D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3057424	NM_000443.4(ABCB4):c.1602T>C (p.Ser534=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder	GLikely benign
Select item 291252	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	ABCB4 (N510S)	Single nucleotide variant (missense variant)	ABCB4-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 593562	NM_000443.4(ABCB4):c.1481G>A (p.Arg494His)	ABCB4 (R494H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3020894	NM_000443.4(ABCB4):c.1437G>A (p.Pro479=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3014571	NM_000443.4(ABCB4):c.1377T>C (p.Asp459=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3032272	NM_000443.4(ABCB4):c.1371del (p.Gln458fs)	ABCB4 (Q458fs)	Deletion (frameshift variant)	ABCB4-related disorder	GPathogenic
Select item 2982077	NM_000443.4(ABCB4):c.1357-10T>C	ABCB4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 502641	NM_000443.4(ABCB4):c.1356+10A>G	ABCB4	Single nucleotide variant (intron variant)	ABCB4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3055481	NM_000443.4(ABCB4):c.1356A>G (p.Thr452=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder	GLikely benign
Select item 2636659	NM_000443.4(ABCB4):c.1298G>A (p.Cys433Tyr)	ABCB4 (C433Y)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 2962244	NM_000443.4(ABCB4):c.1272G>A (p.Thr424=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2628376	NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)	ABCB4 (R406*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1676067	NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu)	ABCB4 (G384E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3031183	NM_000443.4(ABCB4):c.1136G>C (p.Ser379Thr)	ABCB4 (S379T)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 2692642	NM_000443.4(ABCB4):c.1119+2T>C	ABCB4	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 497608	NM_000443.4(ABCB4):c.1060A>G (p.Ile354Val)	ABCB4 (I354V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635266	NM_000443.4(ABCB4):c.1033T>G (p.Phe345Val)	ABCB4 (F345V)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 812984	NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	ABCB4 (S339fs)	Duplication (frameshift variant)	Progressive familial intrahepatic cholestasis type 3 +2 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 +3 more	GPathogenic/Likely pathogenic
Select item 3049388	NM_000443.4(ABCB4):c.918G>A (p.Leu306=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder	GLikely benign
Select item 2633459	NM_000443.4(ABCB4):c.916C>A (p.Leu306Met)	ABCB4 (L306M)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 289256	NM_000443.4(ABCB4):c.911C>A (p.Ala304Asp)	ABCB4 (A304D)	Single nucleotide variant (missense variant)	ABCB4-related disorder +1 more	GUncertain significance
Select item 290131	NM_000443.4(ABCB4):c.910G>T (p.Ala304Ser)	ABCB4 (A304S)	Single nucleotide variant (missense variant)	ABCB4-related disorder +2 more	GUncertain significance
Select item 2635768	NM_000443.4(ABCB4):c.899C>A (p.Ser300Tyr)	ABCB4 (S300Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2896805	NM_000443.4(ABCB4):c.879A>G (p.Lys293=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1698460	NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)	ABCB4 (G270R)	Single nucleotide variant (missense variant)	ABCB4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 284078	NM_000443.4(ABCB4):c.760G>A (p.Ala254Thr)	ABCB4 (A254T)	Single nucleotide variant (missense variant)	ABCB4-related disorder +1 more	GUncertain significance
Select item 289810	NM_000443.4(ABCB4):c.717G>A (p.Ser239=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 198729	NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)	ABCB4 (L238V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 497292	NM_000443.4(ABCB4):c.602C>T (p.Thr201Met)	ABCB4 (T201M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 385804	NM_000443.4(ABCB4):c.525G>A (p.Thr175=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 908141	NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala)	ABCB4 (T171A)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3 +2 more	GUncertain significance
Select item 596680	NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	ABCB4 (R159*)	Single nucleotide variant (nonsense)	Low phospholipid associated cholelithiasis +3 more	GPathogenic
Select item 2985679	NM_000443.4(ABCB4):c.309A>G (p.Leu103=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 291098	NM_000443.4(ABCB4):c.303G>A (p.Ser101=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2635175	NM_000443.4(ABCB4):c.286+1G>A	ABCB4	Single nucleotide variant (splice donor variant)	ABCB4-related disorder	GPathogenic
Select item 287926	NM_000443.4(ABCB4):c.240G>A (p.Glu80=)	ABCB4	Single nucleotide variant (synonymous variant)	ABCB4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 374521	NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)	ABCB4 (L73V)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +4 more	GUncertain significance
Select item 197144	NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)	ABCB4 (R47Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 502776	NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter)	ABCB4 (R47*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 595758	NM_000443.4(ABCB4):c.102G>T (p.Thr34=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196273	NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)	ABCB4 (T34M)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +5 more	GConflicting classifications of pathogenicity
Select item 3031083	NM_000443.4(ABCB4):c.98A>G (p.Lys33Arg)	ABCB4 (K33R)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 594773	NM_000443.4(ABCB4):c.80+5A>C	ABCB4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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