45[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 59621	GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3	ABCB4, CROT +30 more	Copy number gain	See cases	GUncertain significance
Select item 2267151	NM_021151.4(CROT):c.640C>A (p.Pro214Thr)	ABCB4, CROT (P214T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538658	NM_021151.4(CROT):c.674A>T (p.His225Leu)	ABCB4, CROT (H253L +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 2369826	NM_021151.4(CROT):c.712G>A (p.Ala238Thr)	ABCB4, CROT (A266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516450	NM_021151.4(CROT):c.755G>A (p.Arg252Gln)	ABCB4, CROT (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327902	NM_021151.4(CROT):c.776A>C (p.Asp259Ala)	ABCB4, CROT (D287A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268768	NM_021151.4(CROT):c.815G>A (p.Ser272Asn)	ABCB4, CROT (S272N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260349	NM_021151.4(CROT):c.920G>A (p.Gly307Asp)	ABCB4, CROT (G307D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
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 2333835	NM_021151.4(CROT):c.1021T>C (p.Tyr341His)	ABCB4, CROT (Y341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507720	NM_021151.4(CROT):c.1027G>A (p.Asp343Asn)	ABCB4, CROT (D371N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280711	NM_021151.4(CROT):c.1037T>G (p.Ile346Ser)	ABCB4, CROT (I346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721357	NM_021151.4(CROT):c.1063-8A>G	ABCB4, CROT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2399663	NM_021151.4(CROT):c.1112T>C (p.Ile371Thr)	ABCB4, CROT (I371T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077619	NM_021151.4(CROT):c.1120G>A (p.Glu374Lys)	ABCB4, CROT (E402K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409026	NM_021151.4(CROT):c.1240C>A (p.Leu414Ile)	ABCB4, CROT (L414I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406776	NM_021151.4(CROT):c.1352G>A (p.Arg451His)	ABCB4, CROT (R479H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311661	NM_021151.4(CROT):c.1359G>C (p.Glu453Asp)	ABCB4, CROT (E481D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368619	NM_021151.4(CROT):c.1378G>C (p.Val460Leu)	ABCB4, CROT (V460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077620	NM_021151.4(CROT):c.1406T>C (p.Met469Thr)	ABCB4, CROT (M469T +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 2248128	NM_021151.4(CROT):c.1433A>G (p.Glu478Gly)	ABCB4, CROT (E506G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558024	NM_021151.4(CROT):c.1534C>T (p.Leu512Phe)	ABCB4, CROT (L540F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611732	NM_021151.4(CROT):c.1547A>G (p.Glu516Gly)	ABCB4, CROT (E516G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077621	NM_021151.4(CROT):c.1582C>G (p.Pro528Ala)	ABCB4, CROT (P528A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077622	NM_021151.4(CROT):c.1600G>A (p.Gly534Arg)	ABCB4, CROT (G534R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336571	NM_021151.4(CROT):c.1636G>T (p.Val546Phe)	ABCB4, CROT (V546F +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 3077623	NM_021151.4(CROT):c.1688A>G (p.Tyr563Cys)	ABCB4, CROT (Y591C +1 more)	Single nucleotide variant (missense variant)	not specified	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 3344294	NM_000443.4(ABCB4):c.3839G>C (p.Ter1280Ser)	ABCB4	Single nucleotide variant (stop lost)	ABCB4-related disorder	GUncertain significance
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 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 498700	NM_000443.4(ABCB4):c.3816C>T (p.Val1272=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 286700	NM_000443.4(ABCB4):c.3811A>C (p.Ser1271Arg)	ABCB4 (S1278R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3017294	NM_000443.4(ABCB4):c.3765G>A (p.Thr1255=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049446	NM_000443.4(ABCB4):c.3764C>T (p.Thr1255Met)	ABCB4 (T1208M +2 more)	Single nucleotide variant (missense variant)	not provided	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 2995622	NM_000443.4(ABCB4):c.3744G>A (p.Gly1248=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2837060	NM_000443.4(ABCB4):c.3732G>T (p.Val1244=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 594504	NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)	ABCB4 (I1249fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2901806	NM_000443.4(ABCB4):c.3705C>T (p.Thr1235=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2690801	NM_000443.4(ABCB4):c.3694C>T (p.Arg1232Cys)	ABCB4 (R1185C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695193	NM_000443.4(ABCB4):c.3692A>G (p.His1231Arg)	ABCB4 (H1184R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999685	NM_000443.4(ABCB4):c.3680T>G (p.Ile1227Ser)	ABCB4 (I1180S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500001	NM_000443.4(ABCB4):c.3676T>G (p.Cys1226Gly)	ABCB4 (C1226G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1392644	NM_000443.4(ABCB4):c.3671G>A (p.Arg1224His)	ABCB4 (R1177H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497964	NM_000443.4(ABCB4):c.3664G>A (p.Glu1222Lys)	ABCB4 (E1222K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686416	NM_000443.4(ABCB4):c.3659C>A (p.Ala1220Asp)	ABCB4 (A1173D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2837367	NM_000443.4(ABCB4):c.3651G>A (p.Leu1217=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538456	NM_000443.4(ABCB4):c.3643G>A (p.Glu1215Lys)	ABCB4 (E1168K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2978605	NM_000443.4(ABCB4):c.3642A>G (p.Gln1214=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1183441	NM_000443.4(ABCB4):c.3634-72T>C	ABCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228540	NM_000443.4(ABCB4):c.3634-191T>C	ABCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270294	NM_000443.4(ABCB4):c.3634-228A>C	ABCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290526	NM_000443.4(ABCB4):c.3633+200C>A	ABCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326703	NM_000443.4(ABCB4):c.3633+84A>G	ABCB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965930	NM_000443.4(ABCB4):c.3633+19C>T	ABCB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811493	NM_000443.4(ABCB4):c.3633+16C>A	ABCB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995333	NM_000443.4(ABCB4):c.3633+10G>A	ABCB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 499615	NM_000443.4(ABCB4):c.3633+9G>A	ABCB4	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 501851	NM_000443.4(ABCB4):c.3633+1G>T	ABCB4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2974746	NM_000443.4(ABCB4):c.3621T>C (p.Thr1207=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287358	NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter)	ABCB4 (S1210* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2690802	NM_000443.4(ABCB4):c.3597T>A (p.Asp1199Glu)	ABCB4 (D1152E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856595	NM_000443.4(ABCB4):c.3592T>C (p.Leu1198=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 911979	NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2835078	NM_000443.4(ABCB4):c.3585C>T (p.Ile1195=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965382	NM_000443.4(ABCB4):c.3582A>G (p.Gln1194=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593798	NM_000443.4(ABCB4):c.3577C>A (p.Pro1193Thr)	ABCB4 (P1193T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596199	NM_000443.4(ABCB4):c.3565C>G (p.Leu1189Val)	ABCB4 (L1189V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2840068	NM_000443.4(ABCB4):c.3559C>G (p.Arg1187Gly)	ABCB4 (R1194G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1693954	NM_000443.4(ABCB4):c.3544A>T (p.Arg1182Trp)	ABCB4 (R1135W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383483	NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=)	ABCB4	Single nucleotide variant (synonymous variant)	Progressive familial intrahepatic cholestasis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 2735039	NM_000443.4(ABCB4):c.3541C>T (p.Gln1181Ter)	ABCB4 (Q1188* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 287500	NM_000443.4(ABCB4):c.3533G>T (p.Gly1178Val)	ABCB4 (G1178V +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 2695513	NM_000443.4(ABCB4):c.3520C>T (p.Gln1174Ter)	ABCB4 (Q1174* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 909051	NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)	ABCB4	Single nucleotide variant (synonymous variant)	Cholestasis, intrahepatic, of pregnancy, 3 +2 more	GConflicting classifications of pathogenicity
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 2972598	NM_000443.4(ABCB4):c.3492T>C (p.Tyr1164=)	ABCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737106	NM_000443.4(ABCB4):c.3492T>G (p.Tyr1164Ter)	ABCB4 (Y1164* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 598387	NM_000443.4(ABCB4):c.3488A>T (p.Lys1163Ile)	ABCB4 (K1170I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256164	NM_000443.4(ABCB4):c.3487-16T>C	ABCB4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2832968	NM_000443.4(ABCB4):c.3486+13G>C	ABCB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 281888	NM_000443.4(ABCB4):c.3486+10dup	ABCB4	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2822297	NM_000443.4(ABCB4):c.3486+9_3486+10del	ABCB4	Deletion (intron variant)	not provided	GLikely benign
Select item 3061380	NM_000443.4(ABCB4):c.3486+1G>C	ABCB4	Single nucleotide variant (splice donor variant)	ABCB4-related disorder	GLikely pathogenic

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