8647[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1541771.	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 GRCh37: Chr2:155150555-176854100 GRCh38: Chr2:154294042-175989372	SLC25A12, SLC38A11, SPC25, SLC4A10, SNORA70F, SNORD3K, SP3, SP5, SP9, SSB, STK39, TANC1, TANK, TANK-AS1, TBR1, TLK1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UBR3, UPP2, WDSUB1, WIPF1, XIRP2, XIRP2-AS1, ABCB11, ACVR1, ACVR1C, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BAZ2B, BAZ2B-AS1, BBS5, CCDC148, CCDC148-AS1, CD302, CDCA7, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CIR1, COBLL1, CSRNP3, CYBRD1, CYTIP, DAPL1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DPP4, DPP4-DT, DYNC1I2, ERICH2, ERICH2-DT, ERMN, FAP, FASTKD1, FIGN, FLJ46875, G6PC2, GAD1, GALNT13, GALNT13-AS1, GALNT3, GALNT5, GCA, GCG, GORASP2, GPD2, GPR155, GPR155-DT, GRB14, HAT1, IFIH1, ITGA6, ITGA6-AS1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, KLHL23, KLHL41, LINC01124, LINC01305, LINC01806, LINC01876, LINC01960, LINC02478, LNPK, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120624, LOC110120625, LOC110120626, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120677, LOC110120678, LOC110120701, LOC110120708, LOC110120710, LOC110120725, LOC110120730, LOC110120736, LOC110120790, LOC110120809, LOC110121120, LOC110121216, LOC110121242, LOC111413009, LOC111556122, LOC112806056, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC114827830, LOC115945201, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC120977014, LOC120977015, LOC121725105, LOC121725106, LOC121725107, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LRP2, LY75, LY75-CD302, MAP3K20, MAP3K20-AS1, MARCHF7, METAP1D, METTL5, METTL8, MIR4774, MIR4785, MIR6888, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, NR4A2, OLA1, PDK1, PHOSPHO2, PHOSPHO2-KLHL23, PKP4, PKP4-AS1, PLA2R1, PPIG, PSMD14, PSMD14-DT, RAPGEF4, RAPGEF4-AS1, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 602482.	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 GRCh37: Chr2:164821892-183059789 GRCh38: Chr2:163965382-182195062	ABCB11, AGPS, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BBS5, CCDC141, CDCA7, CERKL, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CHROMR, CIR1, COBLL1, CSRNP3, CWC22, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DYNC1I2, EPCART, ERICH2, ERICH2-DT, EVX2, FASTKD1, FKBP7, G6PC2, GAD1, GALNT3, GORASP2, GPR155, GPR155-DT, GRB14, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITGA6-AS1, ITPRID2, KLHL23, KLHL41, LINC01116, LINC01117, LINC01124, LINC01305, LINC01934, LINC01960, LNPK, LOC100130691, LOC100506124, LOC101927055, LOC101929633, LOC102724058, LOC105373759, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120677, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC110121216, LOC111413009, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC115945201, LOC120977013, LOC120977014, LOC120977015, LOC120977016, LOC121725107, LOC122847308, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC401021, LRP2, MAP3K20, MAP3K20-AS1, METAP1D, METTL5, METTL8, MIR10B, MIR1246, MIR1258, MIR3128, MIR4437, MIR4444-1, MIR4774, MIR6512, MIR7704, MIR933, MTX2, MYO3B, MYO3B-AS1, NEUROD1, NFE2L2, NOSTRIN, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PHOSPHO2, PHOSPHO2-KLHL23, PJVK, PLEKHA3, PPIG, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SESTD1, SLC25A12, SLC38A11, SNORA70F, SNORD3K, SP3, SP5, SP9, SPC25, SSB, STK39, TLK1, TTC21B, TTC21B-AS1, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, UBR3, WIPF1, XIRP2, XIRP2-AS1, ZNF385B		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 602493.	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 GRCh37: Chr2:164922548-172962614 GRCh38: Chr2:164066038-172097886	ABCB11, B3GALT1, B3GALT1-AS1, BBS5, CERS6, CERS6-AS1, CFAP210, COBLL1, CSRNP3, CYBRD1, DCAF17, DHRS9, DLX1, DYNC1I2, ERICH2, ERICH2-DT, FASTKD1, G6PC2, GAD1, GALNT3, GORASP2, GRB14, HAT1, KLHL23, KLHL41, LINC01124, LOC100506124, LOC101929633, LOC102724058, LOC110120678, LOC110120701, LOC110120730, LOC110121216, LOC111413009, LOC112806057, LOC112806058, LOC115945201, LOC120977013, LOC120977014, LOC121725107, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LRP2, METAP1D, METTL5, METTL8, MIR4774, MYO3B, MYO3B-AS1, NOSTRIN, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC25A12, SLC38A11, SNORA70F, SNORD3K, SP5, SPC25, SSB, STK39, TLK1, TTC21B, TTC21B-AS1, UBR3, XIRP2, XIRP2-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 574914.	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 GRCh37: Chr2:165706627-176423918 GRCh38: Chr2:164850117-175559190	ABCB11, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BBS5, CDCA7, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CIR1, CSRNP3, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DYNC1I2, ERICH2, ERICH2-DT, FASTKD1, G6PC2, GAD1, GALNT3, GORASP2, GPR155, GPR155-DT, HAT1, ITGA6, ITGA6-AS1, KLHL23, KLHL41, LINC01124, LINC01305, LINC01960, LOC100506124, LOC102724058, LOC110120624, LOC110120625, LOC110120626, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC110121216, LOC112806058, LOC112806059, LOC112806060, LOC115945201, LOC120977013, LOC120977014, LOC120977015, LOC121725107, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LRP2, MAP3K20, MAP3K20-AS1, METAP1D, METTL5, METTL8, MIR4774, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, OLA1, PDK1, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, RAPGEF4, RAPGEF4-AS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SLC25A12, SLC38A11, SNORD3K, SP3, SP5, SP9, SPC25, SSB, STK39, TLK1, TTC21B, TTC21B-AS1, UBR3, WIPF1, XIRP2, XIRP2-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1506375.	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1 GRCh37: Chr2:169740860-170815789 GRCh38: Chr2:168884350-169959279	ABCB11, BBS5, CFAP210, DHRS9, FASTKD1, G6PC2, KLHL23, KLHL41, LOC120977014, LOC122847310, LOC126806400, LOC126806401, LRP2, METTL5, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, SNORD3K, SPC25, SSB, UBR3		See cases	Uncertain significance (Oct 24, 2012)	no assertion criteria provided
Select item 8944296.	NM_003742.4(ABCB11):c.*670G>C GRCh37: Chr2:169779462 GRCh38: Chr2:168922952	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8929977.	NM_003742.4(ABCB11):c.*640G>C GRCh37: Chr2:169779492 GRCh38: Chr2:168922982	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3320108.	NM_003742.4(ABCB11):c.*533C>A GRCh37: Chr2:169779599 GRCh38: Chr2:168923089	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3320119.	NM_003742.4(ABCB11):c.*509C>T GRCh37: Chr2:169779623 GRCh38: Chr2:168923113	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33201210.	NM_003742.4(ABCB11):c.*440G>A GRCh37: Chr2:169779692 GRCh38: Chr2:168923182	ABCB11		Progressive familial intrahepatic cholestasis type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33201311.	NM_003742.4(ABCB11):c.*420A>G GRCh37: Chr2:169779712 GRCh38: Chr2:168923202	ABCB11		Progressive familial intrahepatic cholestasis type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89299812.	NM_003742.4(ABCB11):c.*406A>G GRCh37: Chr2:169779726 GRCh38: Chr2:168923216	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33201413.	NM_003742.4(ABCB11):c.*368G>A GRCh37: Chr2:169779764 GRCh38: Chr2:168923254	ABCB11		Progressive familial intrahepatic cholestasis type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89322114.	NM_003742.4(ABCB11):c.*316G>A GRCh37: Chr2:169779816 GRCh38: Chr2:168923306	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33201515.	NM_003742.4(ABCB11):c.*281T>G GRCh37: Chr2:169779851 GRCh38: Chr2:168923341	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33201616.	NM_003742.4(ABCB11):c.*252T>A GRCh37: Chr2:169779880 GRCh38: Chr2:168923370	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33201717.	NM_003742.4(ABCB11):c.*237T>C GRCh37: Chr2:169779895 GRCh38: Chr2:168923385	ABCB11		Progressive familial intrahepatic cholestasis type 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33201818.	NM_003742.4(ABCB11):c.*236A>G GRCh37: Chr2:169779896 GRCh38: Chr2:168923386	ABCB11		not provided, Progressive familial intrahepatic cholestasis type 2	Benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33201919.	NM_003742.4(ABCB11):c.*193G>C GRCh37: Chr2:169779939 GRCh38: Chr2:168923429	ABCB11		Progressive familial intrahepatic cholestasis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 89322220.	NM_003742.4(ABCB11):c.*26A>G GRCh37: Chr2:169780106 GRCh38: Chr2:168923596	ABCB11		Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 38279721.	NM_003742.4(ABCB11):c.*6T>A GRCh37: Chr2:169780126 GRCh38: Chr2:168923616	ABCB11		not specified	Likely benign (Feb 10, 2016)	criteria provided, single submitter
Select item 210774922.	NM_003742.4(ABCB11):c.3962G>C (p.Ser1321Thr) GRCh37: Chr2:169780136 GRCh38: Chr2:168923626	ABCB11	S1321T	not provided	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 113149523.	NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) GRCh37: Chr2:169780136 GRCh38: Chr2:168923626	ABCB11	S1321N	not provided, Progressive familial intrahepatic cholestasis type 2	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 113319924.	NM_003742.4(ABCB11):c.3957C>G (p.Pro1319=) GRCh37: Chr2:169780141 GRCh38: Chr2:168923631	ABCB11		not provided	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 205957225.	NM_003742.4(ABCB11):c.3951A>T (p.Gly1317_Ser1318=) GRCh37: Chr2:169780147 GRCh38: Chr2:168923637	ABCB11		not provided	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 99058326.	NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala) GRCh37: Chr2:169780152 GRCh38: Chr2:168923642	ABCB11	T1316A	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 28633627.	NM_003742.4(ABCB11):c.3945del (p.Thr1316fs) GRCh37: Chr2:169780153 GRCh38: Chr2:168923643	ABCB11	T1316fs	not provided	Uncertain significance (Feb 25, 2016)	criteria provided, single submitter
Select item 113613828.	NM_003742.4(ABCB11):c.3937C>T (p.Leu1313=) GRCh37: Chr2:169780161 GRCh38: Chr2:168923651	ABCB11		not provided	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 110024129.	NM_003742.4(ABCB11):c.3927C>A (p.Ala1309=) GRCh37: Chr2:169780171 GRCh38: Chr2:168923661	ABCB11		not provided	Likely benign (Aug 29, 2020)	criteria provided, single submitter
Select item 59468230.	NM_003742.4(ABCB11):c.3923del (p.Gly1308fs) GRCh37: Chr2:169780175 GRCh38: Chr2:168923665	ABCB11	G1308fs	not provided	Uncertain significance (Oct 24, 2017)	criteria provided, single submitter
Select item 165473731.	NM_003742.4(ABCB11):c.3921A>G (p.Lys1307=) GRCh37: Chr2:169780177 GRCh38: Chr2:168923667	ABCB11		not provided	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 211368332.	NM_003742.4(ABCB11):c.3917A>G (p.Gln1306Arg) GRCh37: Chr2:169780181 GRCh38: Chr2:168923671	ABCB11	Q1306R	not provided	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 114613833.	NM_003742.4(ABCB11):c.3915C>A (p.Ala1305=) GRCh37: Chr2:169780183 GRCh38: Chr2:168923673	ABCB11		not provided	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 115015034.	NM_003742.4(ABCB11):c.3906A>G (p.Glu1302=) GRCh37: Chr2:169780192 GRCh38: Chr2:168923682	ABCB11		not provided	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 145331635.	NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter) GRCh37: Chr2:169780194 GRCh38: Chr2:168923684	ABCB11	E1302*	not provided	Pathogenic (Jul 28, 2021)	criteria provided, single submitter
Select item 75430836.	NM_003742.4(ABCB11):c.3903A>G (p.Glu1301=) GRCh37: Chr2:169780195 GRCh38: Chr2:168923685	ABCB11		not provided	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 79990737.	NM_003742.4(ABCB11):c.3894G>A (p.Gly1298=) GRCh37: Chr2:169780204 GRCh38: Chr2:168923694	ABCB11		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 211785238.	NM_003742.4(ABCB11):c.3890dup (p.Thr1299fs) GRCh37: Chr2:169780207-169780208 GRCh38: Chr2:168923697-168923698	ABCB11	T1299fs	not provided	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 134271339.	NM_003742.4(ABCB11):c.3875G>A (p.Gly1292Glu) GRCh37: Chr2:169780223 GRCh38: Chr2:168923713	ABCB11	G1292E	Benign recurrent intrahepatic cholestasis type 2	Likely pathogenic (Sep 18, 2021)	criteria provided, single submitter
Select item 49815240.	NM_003742.4(ABCB11):c.3875G>T (p.Gly1292Val) GRCh37: Chr2:169780223 GRCh38: Chr2:168923713	ABCB11	G1292V	not provided	Uncertain significance (Oct 24, 2016)	criteria provided, single submitter
Select item 166653341.	NM_003742.4(ABCB11):c.3864C>T (p.Val1288=) GRCh37: Chr2:169780234 GRCh38: Chr2:168923724	ABCB11		not provided	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 59333642.	NM_003742.4(ABCB11):c.3854T>A (p.Ile1285Asn) GRCh37: Chr2:169780244 GRCh38: Chr2:168923734	ABCB11	I1285N	not provided	Uncertain significance (Jul 20, 2017)	criteria provided, single submitter
Select item 76317743.	NM_003742.4(ABCB11):c.3849G>A (p.Ala1283=) GRCh37: Chr2:169780249 GRCh38: Chr2:168923739	ABCB11		not provided	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 28834944.	NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val) GRCh37: Chr2:169780250 GRCh38: Chr2:168923740	ABCB11	A1283V	not provided, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2	Uncertain significance (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72257445.	NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=) GRCh37: Chr2:169780252 GRCh38: Chr2:168923742	ABCB11		not provided	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 207954446.	NM_003742.4(ABCB11):c.3840C>T (p.Ile1280_Gln1281=) GRCh37: Chr2:169780258 GRCh38: Chr2:168923748	ABCB11		not provided	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 164940947.	NM_003742.4(ABCB11):c.3834C>T (p.Ser1278=) GRCh37: Chr2:169780264 GRCh38: Chr2:168923754	ABCB11		not provided	Likely benign (Apr 14, 2021)	criteria provided, single submitter
Select item 43403448.	NM_003742.4(ABCB11):c.3834C>G (p.Ser1278=) GRCh37: Chr2:169780264 GRCh38: Chr2:168923754	ABCB11		not specified	Uncertain significance (Jun 27, 2016)	criteria provided, single submitter
Select item 113347649.	NM_003742.4(ABCB11):c.3828C>T (p.Arg1276=) GRCh37: Chr2:169780270 GRCh38: Chr2:168923760	ABCB11		not provided	Likely benign (Jun 23, 2020)	criteria provided, single submitter
Select item 49870550.	NM_003742.4(ABCB11):c.3817A>G (p.Ile1273Val) GRCh37: Chr2:169780281 GRCh38: Chr2:168923771	ABCB11	I1273V	not provided	Uncertain significance (Nov 16, 2016)	criteria provided, single submitter
Select item 170660751.	NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn) GRCh37: Chr2:169780286 GRCh38: Chr2:168923776	ABCB11	I1271N	Progressive familial intrahepatic cholestasis type 2	Likely pathogenic	no assertion criteria provided
Select item 208793152.	NM_003742.4(ABCB11):c.3810C>T (p.Cys1270_Ile1271=) GRCh37: Chr2:169780288 GRCh38: Chr2:168923778	ABCB11		not provided	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 180311953.	NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile) GRCh37: Chr2:169780292 GRCh38: Chr2:168923782	ABCB11	T1269I	Progressive familial intrahepatic cholestasis	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 211359054.	NM_003742.4(ABCB11):c.3804G>A (p.Arg1268_Thr1269=) GRCh37: Chr2:169780294 GRCh38: Chr2:168923784	ABCB11		not provided	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 144457655.	NM_003742.4(ABCB11):c.3804del (p.Thr1269fs) GRCh37: Chr2:169780294 GRCh38: Chr2:168923784	ABCB11	T1269fs	not provided	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 110944056.	NM_003742.4(ABCB11):c.3802C>A (p.Arg1268=) GRCh37: Chr2:169780296 GRCh38: Chr2:168923786	ABCB11		not provided	Likely benign (Nov 11, 2021)	criteria provided, single submitter
Select item 96731657.	NM_003742.4(ABCB11):c.3802C>T (p.Arg1268Trp) GRCh37: Chr2:169780296 GRCh38: Chr2:168923786	ABCB11	R1268W	not provided	Pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 109349858.	NM_003742.4(ABCB11):c.3798G>A (p.Glu1266=) GRCh37: Chr2:169780300 GRCh38: Chr2:168923790	ABCB11		not provided	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 213048159.	NM_003742.4(ABCB11):c.3787A>T (p.Lys1263Ter) GRCh37: Chr2:169780311 GRCh38: Chr2:168923801	ABCB11	K1263*	not provided	Pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 109942060.	NM_003742.4(ABCB11):c.3786C>T (p.Asp1262=) GRCh37: Chr2:169780312 GRCh38: Chr2:168923802	ABCB11		not provided	Likely benign (May 21, 2019)	criteria provided, single submitter
Select item 59568761.	NM_003742.4(ABCB11):c.3782T>C (p.Leu1261Pro) GRCh37: Chr2:169780316 GRCh38: Chr2:168923806	ABCB11	L1261P	not provided	Uncertain significance (Jan 9, 2018)	criteria provided, single submitter
Select item 49884062.	NM_003742.4(ABCB11):c.3778G>C (p.Ala1260Pro) GRCh37: Chr2:169780320 GRCh38: Chr2:168923810	ABCB11	A1260P	not provided	Uncertain significance (Nov 28, 2016)	criteria provided, single submitter
Select item 162398463.	NM_003742.4(ABCB11):c.3775G>A (p.Val1259Ile) GRCh37: Chr2:169780323 GRCh38: Chr2:168923813	ABCB11	V1259I	not provided	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 107569864.	NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter) GRCh37: Chr2:169780326 GRCh38: Chr2:168923816	ABCB11	Q1258*	not provided	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 161589365.	NM_003742.4(ABCB11):c.3771G>T (p.Val1257=) GRCh37: Chr2:169780327 GRCh38: Chr2:168923817	ABCB11		not provided	Likely benign (Sep 8, 2021)	criteria provided, single submitter
Select item 38475366.	NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=) GRCh37: Chr2:169780330 GRCh38: Chr2:168923820	ABCB11		not specified, not provided	Conflicting interpretations of pathogenicity (Dec 21, 2017)	criteria provided, conflicting interpretations
Select item 659267.	NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) GRCh37: Chr2:169780330-169780331 GRCh38: Chr2:168923820-168923821	ABCB11	V1257fs	not provided	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 28736568.	NM_003742.4(ABCB11):c.3767C>G (p.Thr1256Arg) GRCh37: Chr2:169780331 GRCh38: Chr2:168923821	ABCB11	T1256R	not provided	Uncertain significance (May 2, 2016)	criteria provided, single submitter
Select item 157394969.	NM_003742.4(ABCB11):c.3766-4G>A GRCh37: Chr2:169780336 GRCh38: Chr2:168923826	ABCB11		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 28847270.	NM_003742.4(ABCB11):c.3766-10C>T GRCh37: Chr2:169780342 GRCh38: Chr2:168923832	ABCB11		not provided	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 118471271.	NM_003742.4(ABCB11):c.3766-34A>G GRCh37: Chr2:169780366 GRCh38: Chr2:168923856	ABCB11		not provided, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124662172.	NM_003742.4(ABCB11):c.3765+282A>G GRCh37: Chr2:169780885 GRCh38: Chr2:168924375	ABCB11		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 127891673.	NM_003742.4(ABCB11):c.3765+206A>G GRCh37: Chr2:169780961 GRCh38: Chr2:168924451	ABCB11		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 114279374.	NM_003742.4(ABCB11):c.3765+8T>C GRCh37: Chr2:169781159 GRCh38: Chr2:168924649	ABCB11		not provided	Likely benign (Feb 18, 2021)	criteria provided, single submitter
Select item 153423275.	NM_003742.4(ABCB11):c.3735C>T (p.Ala1245=) GRCh37: Chr2:169781197 GRCh38: Chr2:168924687	ABCB11		not provided	Likely benign (Feb 17, 2021)	criteria provided, single submitter
Select item 115309876.	NM_003742.4(ABCB11):c.3732A>G (p.Glu1244=) GRCh37: Chr2:169781200 GRCh38: Chr2:168924690	ABCB11		not provided	Likely benign (Jun 28, 2020)	criteria provided, single submitter
Select item 133915977.	NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) GRCh37: Chr2:169781204 GRCh38: Chr2:168924694	ABCB11	D1243G	Progressive familial intrahepatic cholestasis type 2	Uncertain significance	criteria provided, single submitter
Select item 114898378.	NM_003742.4(ABCB11):c.3723A>G (p.Leu1241=) GRCh37: Chr2:169781209 GRCh38: Chr2:168924699	ABCB11		not provided	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 42523279.	NM_003742.4(ABCB11):c.3722T>C (p.Leu1241Pro) GRCh37: Chr2:169781210 GRCh38: Chr2:168924700	ABCB11	L1241P	not provided	Likely pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 59835480.	NM_003742.4(ABCB11):c.3706G>T (p.Asp1236Tyr) GRCh37: Chr2:169781226 GRCh38: Chr2:168924716	ABCB11	D1236Y	not provided	Uncertain significance (Aug 10, 2018)	criteria provided, single submitter
Select item 141081781.	NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter) GRCh37: Chr2:169781229 GRCh38: Chr2:168924719	ABCB11	R1235*	not provided	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 28736482.	NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln) GRCh37: Chr2:169781240 GRCh38: Chr2:168924730	ABCB11	R1231Q	not provided	Pathogenic (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97351683.	NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) GRCh37: Chr2:169781241 GRCh38: Chr2:168924731	ABCB11	R1231W	not provided, Familial intrahepatic cholestasis type 2	Pathogenic/Likely pathogenic (May 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130165484.	NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met) GRCh37: Chr2:169781245 GRCh38: Chr2:168924735	ABCB11	I1229M	Progressive familial intrahepatic cholestasis type 2	Uncertain significance (Dec 26, 2019)	criteria provided, single submitter
Select item 108996985.	NM_003742.4(ABCB11):c.3684T>A (p.Ala1228=) GRCh37: Chr2:169781248 GRCh38: Chr2:168924738	ABCB11		not provided	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 81274686.	NM_003742.4(ABCB11):c.3677G>T (p.Arg1226Leu) GRCh37: Chr2:169781255 GRCh38: Chr2:168924745	ABCB11	R1226L	Cholestasis, intrahepatic, of pregnancy, 3	Likely pathogenic	no assertion criteria provided
Select item 59794987.	NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys) GRCh37: Chr2:169781256 GRCh38: Chr2:168924746	ABCB11	R1226C	not provided	Uncertain significance (Jul 9, 2018)	criteria provided, single submitter
Select item 164738488.	NM_003742.4(ABCB11):c.3669G>A (p.Glu1223=) GRCh37: Chr2:169781263 GRCh38: Chr2:168924753	ABCB11		not provided	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 81274789.	NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp) GRCh37: Chr2:169781263 GRCh38: Chr2:168924753	ABCB11	E1223D	Cholestasis, intrahepatic, of pregnancy, 3	Pathogenic	no assertion criteria provided
Select item 170660590.	NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys) GRCh37: Chr2:169781270 GRCh38: Chr2:168924760	ABCB11	R1221K	Progressive familial intrahepatic cholestasis type 2	Pathogenic	no assertion criteria provided
Select item 145177091.	NM_003742.4(ABCB11):c.3659_3660del (p.Leu1219_Ser1220insTer) GRCh37: Chr2:169781272-169781273 GRCh38: Chr2:168924762-168924763	ABCB11		not provided	Pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 26501692.	NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala) GRCh37: Chr2:169781285 GRCh38: Chr2:168924775	ABCB11	G1216A	not provided	Uncertain significance (Jun 6, 2016)	criteria provided, single submitter
Select item 145599693.	NM_003742.4(ABCB11):c.3636del (p.Ser1214fs) GRCh37: Chr2:169781296 GRCh38: Chr2:168924786	ABCB11	S1214fs	not provided	Pathogenic (Jul 3, 2021)	criteria provided, single submitter
Select item 59660094.	NM_003742.4(ABCB11):c.3634G>A (p.Val1212Ile) GRCh37: Chr2:169781298 GRCh38: Chr2:168924788	ABCB11	V1212I	not provided	Uncertain significance (Mar 21, 2018)	criteria provided, single submitter
Select item 75293995.	NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=) GRCh37: Chr2:169781299 GRCh38: Chr2:168924789	ABCB11		Progressive familial intrahepatic cholestasis type 2, not provided	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 216227896.	NM_003742.4(ABCB11):c.3631A>G (p.Asn1211Asp) GRCh37: Chr2:169781301 GRCh38: Chr2:168924791	ABCB11	N1211D	not provided	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 59588497.	NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) GRCh37: Chr2:169781303 GRCh38: Chr2:168924793	ABCB11	T1210S	not provided	Conflicting interpretations of pathogenicity (Jun 23, 2022)	criteria provided, conflicting interpretations
Select item 94396798.	NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) GRCh37: Chr2:169781304 GRCh38: Chr2:168924794	ABCB11	T1210P	not provided	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 76590899.	NM_003742.4(ABCB11):c.3624T>C (p.Tyr1208=) GRCh37: Chr2:169781308 GRCh38: Chr2:168924798	ABCB11		not provided	Likely benign (Aug 17, 2018)	criteria provided, single submitter
Select item 1926775100.	NM_003742.4(ABCB11):c.3619-4dup GRCh37: Chr2:169781316-169781317 GRCh38: Chr2:168924806-168924807	ABCB11		not provided	Benign (Mar 29, 2022)	criteria provided, single submitter

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