ClinVar for Gene (Select 5244) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594923	NM_000443.4(ABCB4):c.716C>G (p.Ser239Trp)	ABCB4 (S239W)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GUncertain significance
Select item 3594921	NM_000443.4(ABCB4):c.3139_3141delinsCC (p.Ala1047fs)	ABCB4 (A1000fs +1 more)	Indel (frameshift variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GPathogenic
Select item 3594920	NM_000443.4(ABCB4):c.3152T>C (p.Val1051Ala)	ABCB4 (V1004A +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GLikely pathogenic
Select item 3594919	NM_000443.4(ABCB4):c.3170T>C (p.Leu1057Pro)	ABCB4 (L1010P +1 more)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GLikely pathogenic
Select item 3594918	NM_000443.4(ABCB4):c.3593T>A (p.Leu1198Ter)	ABCB4 (L1198* +2 more)	Single nucleotide variant (nonsense)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GLikely pathogenic
Select item 3533622	NM_000443.4(ABCB4):c.356A>T (p.Tyr119Phe)	ABCB4 (Y119F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3533456	NM_000443.4(ABCB4):c.3791G>A (p.Gly1264Asp)	ABCB4 (G1271D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3533369	NM_000443.4(ABCB4):c.3233T>C (p.Val1078Ala)	ABCB4 (V1031A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3533270	NM_000443.4(ABCB4):c.2453C>T (p.Ala818Val)	ABCB4 (A818V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3533182	NM_000443.4(ABCB4):c.719C>T (p.Ala240Val)	ABCB4 (A240V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3533092	NM_000443.4(ABCB4):c.48C>G (p.Ser16Arg)	ABCB4, LOC129998756 (S16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3532992	NM_000443.4(ABCB4):c.2890G>A (p.Val964Met)	ABCB4 (V964M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3532921	NM_000443.4(ABCB4):c.3038G>A (p.Arg1013Lys)	ABCB4 (R966K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3532844	NM_000443.4(ABCB4):c.3586C>T (p.Leu1196Phe)	ABCB4 (L1149F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3532742	NM_000443.4(ABCB4):c.3256T>G (p.Tyr1086Asp)	ABCB4 (Y1039D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3532678	NM_000443.4(ABCB4):c.2306T>A (p.Phe769Tyr)	ABCB4 (F769Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3497276	NM_021151.4(CROT):c.1212T>A (p.Phe404Leu)	ABCB4, CROT (F404L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497274	NM_021151.4(CROT):c.1733G>C (p.Cys578Ser)	ABCB4, CROT (C578S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497273	NM_021151.4(CROT):c.1679A>G (p.His560Arg)	ABCB4, CROT (H560R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497270	NM_021151.4(CROT):c.836A>G (p.Glu279Gly)	ABCB4, CROT (E279G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497269	NM_021151.4(CROT):c.710T>C (p.Ile237Thr)	ABCB4, CROT (I265T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497268	NM_021151.4(CROT):c.1555C>T (p.Leu519Phe)	ABCB4, CROT (L547F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497267	NM_021151.4(CROT):c.1190C>T (p.Ala397Val)	ABCB4, CROT (A397V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3497266	NM_021151.4(CROT):c.916T>C (p.Trp306Arg)	ABCB4, CROT (W334R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3497265	NM_021151.4(CROT):c.1585C>G (p.Leu529Val)	ABCB4, CROT (L529V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391895	GRCh37/hg19 7q11.23-21.3(chr7:74666254-97791584)x1	ABCB1, ABCB4 +101 more	Copy number loss	not provided	GPathogenic
Select item 3391266	NM_000443.4(ABCB4):c.3590T>C (p.Leu1197Pro)	ABCB4 (L1150P +2 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 3391265	NM_000443.4(ABCB4):c.2479-2A>C	ABCB4	Single nucleotide variant (splice acceptor variant)	Progressive familial intrahepatic cholestasis type 3	GLikely pathogenic
Select item 3391149	NM_000443.4(ABCB4):c.593del (p.Ala198fs)	ABCB4 (A198fs)	Deletion (frameshift variant)	Cholestasis, intrahepatic, of pregnancy, 3	GPathogenic
Select item 3384981	NM_000443.4(ABCB4):c.3410G>A (p.Arg1137Gln)	ABCB4 (R1090Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3381906	NM_000443.4(ABCB4):c.1199A>C (p.His400Pro)	ABCB4 (H400P)	Single nucleotide variant (missense variant)	Low phospholipid associated cholelithiasis	GUncertain significance
Select item 3381024	NM_000443.4(ABCB4):c.2781C>A (p.Tyr927Ter)	ABCB4 (Y927*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3379773	NM_000443.4(ABCB4):c.2140G>C (p.Gly714Arg)	ABCB4 (G714R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379772	NM_000443.4(ABCB4):c.2837C>A (p.Ala946Glu)	ABCB4 (A946E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379771	NM_000443.4(ABCB4):c.2858C>T (p.Ala953Val)	ABCB4 (A953V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379770	NM_000443.4(ABCB4):c.2870G>A (p.Arg957Gln)	ABCB4 (R957Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379769	NM_000443.4(ABCB4):c.2959C>A (p.Leu987Ile)	ABCB4 (L940I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379768	NM_000443.4(ABCB4):c.3487-3C>A	ABCB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3377479	NM_000443.4(ABCB4):c.713T>C (p.Leu238Pro)	ABCB4 (L238P)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 3377430	NM_000443.4(ABCB4):c.3221G>A (p.Gly1074Glu)	ABCB4 (G1027E +1 more)	Single nucleotide variant (missense variant)	Low phospholipid associated cholelithiasis	GUncertain significance
Select item 3377141	NM_000443.4(ABCB4):c.1091C>T (p.Ala364Val)	ABCB4 (A364V)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 3376819	NM_000443.4(ABCB4):c.1067C>T (p.Ala356Val)	ABCB4 (A356V)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GUncertain significance
Select item 3376658	NM_000443.4(ABCB4):c.1240G>C (p.Gly414Arg)	ABCB4 (G414R)	Single nucleotide variant (missense variant)	Low phospholipid associated cholelithiasis	GUncertain significance
Select item 3376126	NM_000443.4(ABCB4):c.364G>C (p.Gly122Arg)	ABCB4 (G122R)	Single nucleotide variant (missense variant)	Low phospholipid associated cholelithiasis	GUncertain significance
Select item 3375329	NM_000443.4(ABCB4):c.1604G>A (p.Gly535Asp)	ABCB4 (G535D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3375065	NM_000443.4(ABCB4):c.2507C>A (p.Ala836Glu)	ABCB4 (A836E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374820	NM_000443.4(ABCB4):c.1777A>G (p.Thr593Ala)	ABCB4 (T593A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3369734	NM_000443.4(ABCB4):c.2542A>T (p.Ile848Leu)	ABCB4 (I848L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366787	NM_000443.4(ABCB4):c.148G>A (p.Asp50Asn)	ABCB4 (D50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366493	NM_000443.4(ABCB4):c.2497G>A (p.Ala833Thr)	ABCB4 (A833T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366394	NM_000443.4(ABCB4):c.1846G>A (p.Glu616Lys)	ABCB4 (E616K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365957	NM_000443.4(ABCB4):c.1355C>T (p.Thr452Ile)	ABCB4 (T452I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362475	NM_000443.4(ABCB4):c.2908T>C (p.Phe970Leu)	ABCB4 (F970L)	Single nucleotide variant (missense variant +1 more)	Cholestasis, intrahepatic, of pregnancy, 3	GUncertain significance
Select item 3360240	NM_000443.4(ABCB4):c.614G>T (p.Gly205Val)	ABCB4 (G205V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358246	NM_000443.4(ABCB4):c.2135T>C (p.Val712Ala)	ABCB4 (V712A)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3358175	NM_000443.4(ABCB4):c.2828T>C (p.Ile943Thr)	ABCB4 (I943T)	Single nucleotide variant (missense variant +1 more)	ABCB4-related disorder	GUncertain significance
Select item 3358167	NM_000443.4(ABCB4):c.300G>T (p.Leu100Phe)	ABCB4 (L100F)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3356564	NM_000443.4(ABCB4):c.516A>T (p.Glu172Asp)	ABCB4 (E172D)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3354779	NM_000443.4(ABCB4):c.1621A>C (p.Ile541Leu)	ABCB4 (I541L)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3353760	NM_000443.4(ABCB4):c.377G>T (p.Gly126Val)	ABCB4 (G126V)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3353677	NM_000443.4(ABCB4):c.3168C>A (p.Ser1056Arg)	ABCB4 (S1009R +1 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3353160	NM_000443.4(ABCB4):c.3295G>A (p.Glu1099Lys)	ABCB4 (E1052K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3353053	NM_000443.4(ABCB4):c.3251G>A (p.Arg1084Gln)	ABCB4 (R1037Q +1 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3351703	NM_000443.4(ABCB4):c.1801G>A (p.Ala601Thr)	ABCB4 (A601T)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3350103	NM_000443.4(ABCB4):c.105G>T (p.Lys35Asn)	ABCB4 (K35N)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3350090	NM_000443.4(ABCB4):c.1789G>A (p.Ala597Thr)	ABCB4 (A597T)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3349985	NM_000443.4(ABCB4):c.3061A>T (p.Ser1021Cys)	ABCB4 (S1021C +1 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3347883	NM_000443.4(ABCB4):c.169A>G (p.Met57Val)	ABCB4 (M57V)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3347181	NM_000443.4(ABCB4):c.3151G>A (p.Val1051Met)	ABCB4 (V1004M +1 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3346859	NM_000443.4(ABCB4):c.3521A>C (p.Gln1174Pro)	ABCB4 (Q1127P +2 more)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3346730	NM_000443.4(ABCB4):c.589C>T (p.Gln197Ter)	ABCB4 (Q197*)	Single nucleotide variant (nonsense)	ABCB4-related disorder	GLikely pathogenic
Select item 3346627	NM_000443.4(ABCB4):c.799A>T (p.Ile267Leu)	ABCB4 (I267L)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3346148	NM_000443.4(ABCB4):c.2541_2543del (p.Ile848del)	ABCB4 (I848del)	Deletion (inframe_deletion)	ABCB4-related disorder	GUncertain significance
Select item 3345414	NM_000443.4(ABCB4):c.217dup (p.Leu73fs)	ABCB4 (L73fs)	Duplication (frameshift variant)	ABCB4-related disorder	GLikely pathogenic
Select item 3344994	NM_000443.4(ABCB4):c.149A>G (p.Asp50Gly)	ABCB4 (D50G)	Single nucleotide variant (missense variant)	ABCB4-related disorder	GUncertain significance
Select item 3344889	NM_000443.4(ABCB4):c.287-1G>A	ABCB4	Single nucleotide variant (splice acceptor variant)	ABCB4-related disorder	GLikely pathogenic
Select item 3344742	NM_000443.4(ABCB4):c.1642del (p.Val548fs)	ABCB4 (V548fs)	Deletion (frameshift variant)	ABCB4-related disorder	GLikely pathogenic
Select item 3344294	NM_000443.4(ABCB4):c.3839G>C (p.Ter1280Ser)	ABCB4	Single nucleotide variant (stop lost)	ABCB4-related disorder	GUncertain significance
Select item 3344132	NM_000443.4(ABCB4):c.2813G>C (p.Gly938Ala)	ABCB4 (G938A)	Single nucleotide variant (missense variant +1 more)	ABCB4-related disorder	GUncertain significance
Select item 3340380	NM_000443.4(ABCB4):c.3491A>G (p.Tyr1164Cys)	ABCB4 (Y1117C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340056	NM_000443.4(ABCB4):c.787A>G (p.Ile263Val)	ABCB4 (I263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339209	NM_000443.4(ABCB4):c.763G>A (p.Val255Met)	ABCB4 (V255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336593	NM_000443.4(ABCB4):c.233T>G (p.Phe78Cys)	ABCB4 (F78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336471	NM_000443.4(ABCB4):c.430C>G (p.Arg144Gly)	ABCB4 (R144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336420	NM_000443.4(ABCB4):c.139C>A (p.Arg47=)	ABCB4	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3336152	NM_000443.4(ABCB4):c.527G>A (p.Arg176Gln)	ABCB4 (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291192	NM_000443.4(ABCB4):c.2080C>G (p.Pro694Ala)	ABCB4 (P694A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291113	NM_000443.4(ABCB4):c.494T>C (p.Phe165Ser)	ABCB4 (F165S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290889	NM_000443.4(ABCB4):c.1119+5G>T	ABCB4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3269608	NM_021151.4(CROT):c.1730C>G (p.Ala577Gly)	ABCB4, CROT (A577G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269607	NM_021151.4(CROT):c.983C>G (p.Ala328Gly)	ABCB4, CROT (A328G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269606	NM_021151.4(CROT):c.1661T>C (p.Val554Ala)	ABCB4, CROT (V554A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269605	NM_021151.4(CROT):c.686A>T (p.His229Leu)	ABCB4, CROT (H229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269604	NM_021151.4(CROT):c.1418C>T (p.Ser473Phe)	ABCB4, CROT (S473F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256674	NM_000443.4(ABCB4):c.537-6T>G	ABCB4	Single nucleotide variant (intron variant)	Low phospholipid associated cholelithiasis	GUncertain significance
Select item 3253044	NM_000443.4(ABCB4):c.1A>G (p.Met1Val)	ABCB4, LOC129998756 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3245854	NC_000007.13:g.(?_87076330)_(87076541_?)del	ABCB4	Deletion	not provided	GPathogenic
Select item 3245853	NC_000007.13:g.(?_87031412)_(87104781_?)del	ABCB4	Deletion	not provided	GPathogenic
Select item 3242002	NM_000443.4(ABCB4):c.202G>A (p.Gly68Arg)	ABCB4 (G68R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic
Select item 3239153	NM_000443.4(ABCB4):c.2169del (p.Leu724fs)	ABCB4 (L724fs)	Deletion (frameshift variant)	not provided	GPathogenic

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