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	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, LOC100130256, 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, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129934938, LOC129934939, LOC129934940, LOC129934941, LOC129934942, LOC129934943, LOC129934944, LOC129934945, LOC129934946, LOC129934947, LOC129934948, LOC129934949, LOC129934950, LOC129934951, LOC129934952, LOC129934953, LOC129934954, LOC129934955, LOC129934956, LOC129934957, LOC129934958, LOC129934959, LOC129934960, LOC129934961, LOC129934962, LOC129934963, LOC129934964, LOC129934965, LOC129934966, LOC129934967, LOC129934968, LOC129934969, LOC129934970, LOC129934971, LOC129934972, LOC129934973, LOC129934974, LOC129934975, LOC129934976, LOC129934977, LOC129934978, LOC129934979, LOC129934980, LOC129934981, LOC129934982, LOC129934983, LOC129934984, LOC129934985, LOC129934986, LOC129934987, LOC129934988, LOC129934989, LOC129934990, LOC129934991, LOC129934992, LOC129934993, LOC129934994, LOC129934995, LOC129934996, LOC129934997, LOC129934998, LOC129934999, LOC129935000, LOC129935001, LOC129935002, LOC129935003, LOC129935004, LOC129935005, LOC129935006, LOC129935007, LOC129935008, LOC129935009, LOC129935010, LOC129935011, LOC129935012, LOC129935013, LOC129935014, LOC129935015, LOC129935016, LOC129935017, LOC129935018, LOC129935019, LOC129935020, LOC129935021, LOC129935022, LOC129935023, LOC129935024, LOC129935025, LOC129935026, LOC129935027, LOC129935028, LOC129935029, LOC129935030, LOC129935031, LOC129935032, LOC129935033, LOC129935034, LOC129935035, LOC129935036, LOC129935037, LOC129935038, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC132088761, LOC132088762, LOC132088763, LOC132088764, LOC132088765, LOC132088766, LOC132088767, LOC132088768, LOC132088769, LOC132088770, LOC132088771, LOC132088772, LOC132088773, LOC132088774, LOC132088775, LOC132088776, LOC132088777, LOC132088778, LOC132088779, LOC132088780, LOC132088781, LOC132088782, LOC132088783, LOC132088784, LOC132088785, LOC132088786, LOC132088787, LOC132088788, LOC132088789, LOC132088790, LOC132088791, LOC132088792, LOC132088793, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LOC132090686, LOC132090687, LRP2, LY75, LY75-CD302, MAP3K20, MAP3K20-AS1, MARCHF7, METAP1D, METTL5, METTL8, MIR4774, MIR4785, MIR6888, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, NR4A2, OLA1, PDK1, PDK1-AS1, PHOSPHO2, PHOSPHO2-KLHL23, PKP4, PKP4-AS1, PLA2R1, PPIG, PSMD14, PSMD14-DT, RAPGEF4, RAPGEF4-AS1, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SLC25A12, SLC38A11, SLC4A10, SNORA70F, SNORD3K, SP3, SP5, SP9, SPC25, SSB, STK39, TANC1, TANK, TANK-AS1, TBR1, TLK1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UBR3, UPP2, WDSUB1, WIPF1, XIRP2, XIRP2-AS1		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	KLHL23, KLHL41, LINC01116, LINC01117, LINC01124, LINC01305, LINC01934, LINC01960, LNPK, LOC100129455, LOC100130256, LOC100130691, LOC100506124, LOC101927055, LOC101929633, LOC102724058, LOC105373757, 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, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC129935156, LOC129935157, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC132090686, LOC132090687, 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, NRAL, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PDK1-AS1, 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, 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		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	LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC132088794, 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, 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, LOC100130256, 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, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069		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, LOC100130256, 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, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132090686, LOC132090687, LRP2, MAP3K20, MAP3K20-AS1, METAP1D, METTL5, METTL8, MIR4774, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, OLA1, PDK1, PDK1-AS1, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, RAPGEF4, RAPGEF4-AS1, SCN9A, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, 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	G6PC2, ABCB11, BBS5, CFAP210, DHRS9, FASTKD1, KLHL23, KLHL41, LOC120977014, LOC122847310, LOC126806400, LOC126806401, LOC129388939, LOC129388940, LOC129388941, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, 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=) 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=) 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=) 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=) 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 250400256.	NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln) GRCh37: Chr2:169780295 GRCh38: Chr2:168923785	ABCB11	R1268Q	Progressive familial intrahepatic cholestasis	Pathogenic (Apr 6, 2023)	criteria provided, single submitter
Select item 110944057.	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 96731658.	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 266247859.	NM_003742.4(ABCB11):c.3800G>A (p.Gly1267Asp) GRCh37: Chr2:169780298 GRCh38: Chr2:168923788	ABCB11	G1267D	not provided	Uncertain significance (Apr 14, 2023)	criteria provided, single submitter
Select item 109349860.	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 213048161.	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 109942062.	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 59568763.	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 49884064.	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 162398465.	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 107569866.	NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter) GRCh37: Chr2:169780326 GRCh38: Chr2:168923816	ABCB11	Q1258*	not provided, Progressive familial intrahepatic cholestasis type 2	Pathogenic/Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 161589367.	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 38475368.	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 659269.	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 257538870.	NM_003742.4(ABCB11):c.3767C>T (p.Thr1256Met) GRCh37: Chr2:169780331 GRCh38: Chr2:168923821	ABCB11	T1256M	not specified	Uncertain significance (Aug 15, 2023)	criteria provided, single submitter
Select item 28736571.	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 157394972.	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 28847273.	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 118471274.	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 124662175.	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 127891676.	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 114279377.	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 153423278.	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 115309879.	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 133915980.	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 114898381.	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 42523282.	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 59835483.	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 141081784.	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 28736485.	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 97351686.	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 130165487.	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 108996988.	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 81274689.	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 59794990.	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 164738491.	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 81274792.	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 170660593.	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 145177094.	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 26501695.	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 145599696.	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 59660097.	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 75293998.	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 216227899.	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 595884100.	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

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