ClinVar for MedGen (Select 483742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367057	NM_003742.4(ABCB11):c.712G>A (p.Gly238Ser)	ABCB11 (G238S)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 3362844	NM_003742.4(ABCB11):c.2581_2585del (p.Leu861fs)	ABCB11 (L861fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 3358867	NM_003742.4(ABCB11):c.3230dup (p.Ile1078fs)	ABCB11 (I1078fs)	Duplication (frameshift variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 3068715	NM_003742.4(ABCB11):c.132_133del (p.Arg44fs)	ABCB11 (R44fs)	Microsatellite (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 3065641	NM_003742.4(ABCB11):c.1814A>C (p.Gln605Pro)	ABCB11 (Q605P)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 3065160	NM_003742.4(ABCB11):c.1542_1560del (p.Asn515fs)	ABCB11 (N515fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3065128	NM_003742.4(ABCB11):c.2458T>C (p.Phe820Leu)	ABCB11 (F820L)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 3064845	NM_003742.4(ABCB11):c.1604C>A (p.Ala535Asp)	ABCB11 (A535D)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3064406	NM_003742.4(ABCB11):c.2272G>C (p.Gly758Arg)	ABCB11 (G758R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3064179	NM_003742.4(ABCB11):c.611+5G>A	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 3064146	NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)	ABCB11 (Y1208*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3064091	NM_003742.4(ABCB11):c.1996G>T (p.Glu666Ter)	ABCB11 (E666*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3062099	NM_003742.4(ABCB11):c.1484G>T (p.Arg495Ile)	ABCB11 (R495I)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2734325	NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)	ABCB11 (G1004D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2687835	NM_003742.4(ABCB11):c.611+2dup	ABCB11	Duplication (splice donor variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2687834	NM_003742.4(ABCB11):c.721C>T (p.Leu241=)	ABCB11	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2687829	NM_003742.4(ABCB11):c.1789dup (p.Val597fs)	ABCB11 (V597fs)	Duplication (frameshift variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic/Likely pathogenic
Select item 2687823	NM_003742.4(ABCB11):c.3129_3130delinsT (p.Lys1043fs)	ABCB11 (K1043fs)	Indel (frameshift variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2687806	NM_003742.4(ABCB11):c.989G>A (p.Trp330Ter)	ABCB11 (W330*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2687805	NM_003742.4(ABCB11):c.3510_3511insT (p.Met1171fs)	ABCB11 (M1171fs)	Insertion (frameshift variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2687804	NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)	ABCB11 (S587*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2687803	NM_003742.4(ABCB11):c.307C>T (p.Pro103Ser)	ABCB11 (P103S)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2687802	NM_003742.4(ABCB11):c.2633_2636delinsAGAG (p.Met878_Ile879delinsLysArg)	ABCB11, LOC126806400	Indel (missense variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2687801	NM_003742.4(ABCB11):c.2703C>A (p.Ser901Arg)	ABCB11, LOC126806400 (S901R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2687800	NM_003742.4(ABCB11):c.3233T>A (p.Ile1078Asn)	ABCB11 (I1078N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2687799	NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)	ABCB11 (M1T)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 2671685	NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)	ABCB11	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 2671684	NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)	ABCB11 (G648D)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 2585447	NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)	ABCB11 (S560N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 2585283	NM_003742.4(ABCB11):c.807T>G (p.Tyr269Ter)	ABCB11 (Y269*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2585168	NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)	ABCB11 (L840R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 2504002	NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)	ABCB11 (R1268Q)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2444224	NM_003742.4(ABCB11):c.1434+5G>A	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 2191815	NM_003742.4(ABCB11):c.2843G>A (p.Arg948His)	ABCB11, LOC126806400 (R948H)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GLikely pathogenic
Select item 1706607	NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)	ABCB11 (I1271N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 1706606	NM_003742.4(ABCB11):c.151-9T>G	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 1706605	NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)	ABCB11 (R1221K)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 1706604	NM_003742.4(ABCB11):c.2075+3A>G	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 1705656	NM_003742.4(ABCB11):c.2629G>C (p.Gly877Arg)	ABCB11, LOC126806400 (G877R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 1705349	NM_003742.4(ABCB11):c.76+4A>G	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 1703255	NM_003742.4(ABCB11):c.617_619del (p.Ile206del)	ABCB11	Deletion (inframe_deletion)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 1700624	NM_003742.4(ABCB11):c.2448G>A (p.Gln816=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1687516	NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp)	ABCB11 (G238D)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 1687463	NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter)	ABCB11 (Q1134*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1685228	NM_003742.4(ABCB11):c.2076-1G>A	ABCB11	Single nucleotide variant (splice acceptor variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 1685227	NM_003742.4(ABCB11):c.2179-1G>A	ABCB11	Single nucleotide variant (splice acceptor variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 1526234	NM_003742.4(ABCB11):c.611+1G>A	ABCB11	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 1526232	NM_003742.4(ABCB11):c.2451del (p.Tyr818fs)	ABCB11 (Y818fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 1526090	NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter)	ABCB11 (Q469*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2	GPathogenic
Select item 1458296	NM_003742.4(ABCB11):c.3174del (p.Gln1058fs)	ABCB11 (Q1058fs)	Deletion (frameshift variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 1451770	NM_003742.4(ABCB11):c.3659_3660del (p.Leu1219_Ser1220insTer)	ABCB11	Microsatellite (nonsense)	Progressive familial intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1446326	NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	ABCB11 (S226L)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1446319	NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)	ABCB11 (R415*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2 +2 more	GPathogenic
Select item 1410817	NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)	ABCB11 (R1235*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2 +2 more	GPathogenic
Select item 1403862	NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro)	ABCB11 (L1055P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1383688	NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)	ABCB11 (Y472C)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1339159	NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)	ABCB11 (D1243G)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GConflicting classifications of pathogenicity
Select item 1339022	NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu)	ABCB11 (A1192E)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 1301654	NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met)	ABCB11 (I1229M)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 1195889	NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)	ABCB11 (E21K)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1184712	NM_003742.4(ABCB11):c.3766-34A>G	ABCB11	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GBenign
Select item 1184662	NM_003742.4(ABCB11):c.908+108A>G	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184649	NM_003742.4(ABCB11):c.1309-93G>A	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184648	NM_003742.4(ABCB11):c.1434+70C>T	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184647	NM_003742.4(ABCB11):c.1638+32T>C	ABCB11	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GBenign
Select item 1184646	NM_003742.4(ABCB11):c.2344-157T>G	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2 +2 more	GBenign
Select item 1182069	NM_003742.4(ABCB11):c.1638+80C>T	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1131495	NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)	ABCB11 (S1321N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1099345	NM_003742.4(ABCB11):c.282C>T (p.Asp94=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088798	NM_003742.4(ABCB11):c.2713T>C (p.Leu905=)	ABCB11, LOC126806400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1076791	NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)	ABCB11 (R1153H)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1075698	NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)	ABCB11 (Q1258*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1070887	NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro)	ABCB11 (R487P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1070201	NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)	ABCB11 (F774fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 991238	NM_003742.4(ABCB11):c.394C>T (p.Leu132=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991237	NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg)	ABCB11 (K306R)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 991236	NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser)	ABCB11 (G344S)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 991235	NM_003742.4(ABCB11):c.1095T>C (p.Ser365=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991234	NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr)	ABCB11 (N424T)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GUncertain significance
Select item 991233	NM_003742.4(ABCB11):c.1639-6A>G	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990584	NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val)	ABCB11 (M1185V)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 990583	NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala)	ABCB11 (T1316A)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 973518	NM_003742.4(ABCB11):c.2178+2T>C	ABCB11	Single nucleotide variant (splice donor variant)	Familial intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 973517	NM_003742.4(ABCB11):c.908+1G>C	ABCB11	Single nucleotide variant (splice donor variant)	Familial intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 973516	NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)	ABCB11 (R1231W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 973515	NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)	ABCB11 (R1128G)	Single nucleotide variant (missense variant)	Familial intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 973514	NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)	ABCB11 (G386*)	Single nucleotide variant (nonsense)	Familial intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 956883	NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)	ABCB11 (R470Q)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +2 more	GPathogenic
Select item 951369	NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	ABCB11 (I498T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 943967	NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)	ABCB11 (T1210P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 894545	NM_003742.4(ABCB11):c.583G>T (p.Val195Leu)	ABCB11 (V195L)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 894544	NM_003742.4(ABCB11):c.585G>A (p.Val195=)	ABCB11	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 894543	NM_003742.4(ABCB11):c.681C>A (p.Thr227=)	ABCB11	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 894505	NM_003742.4(ABCB11):c.1647C>T (p.Asp549=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894504	NM_003742.4(ABCB11):c.1927T>C (p.Leu643=)	ABCB11	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 894467	NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe)	ABCB11 (L1152F)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 894429	NM_003742.4(ABCB11):c.*670G>C	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 894110	NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)	ABCB11 (E734D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 894109	NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr)	ABCB11 (R743T)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GUncertain significance
Select item 894072	NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser)	ABCB11 (A1167S)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance

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