| - 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 |
| - 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 |
| - 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 |
| - GRCh37:
- Chr2:171264198-187054621
- GRCh38:
- Chr2:170407688-186189894
| AGPS, ATF2, ATP5MC3, CCDC141, CDCA7, CERKL, CHN1, CHRNA1, CHROMR, CIR1, CWC22, CYBRD1, DCAF17, DLX1, DLX2, DLX2-DT, DNAJC10, DUSP19, DYNC1I2, EPCART, ERICH2, ERICH2-DT, EVX2, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GAD1, GORASP2, GPR155, GPR155-DT, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITGA6-AS1, ITPRID2, LINC01116, LINC01117, LINC01124, LINC01305, LINC01473, LINC01934, LINC01960, LNPK, LOC100129455, LOC100130256, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC115945201, LOC120977015, LOC120977016, 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, LOC122861263, 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, LOC126806442, LOC126806443, LOC126806444, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, 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, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, 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, MAP3K20, MAP3K20-AS1, METAP1D, METTL8, MIR10B, MIR1246, MIR1258, MIR3128, MIR4437, MIR4444-1, MIR548AE1, MIR6512, MIR7704, MIR933, MTX2, MYO3B, NCKAP1, NEUROD1, NFE2L2, NRAL, NUP35, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PDK1-AS1, PJVK, PLEKHA3, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCRN3, SESTD1, SLC25A12, SP3, SP5, SP9, TLK1, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZNF385B, ZNF804A | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:172285743-190044294
- GRCh38:
- Chr2:171429233-189179568
| AGPS, ATF2, ATP5MC3, CALCRL, CALCRL-AS1, CCDC141, CDCA7, CERKL, CHN1, CHRNA1, CHROMR, CIR1, COL3A1, COL5A2, CWC22, CYBRD1, DCAF17, DIRC1, DLX1, DLX2, DLX2-DT, DNAJC10, DUSP19, DYNC1I2, EPCART, EVX2, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GPR155, GPR155-DT, GULP1, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITGA6-AS1, ITGAV, ITPRID2, LINC01090, LINC01116, LINC01117, LINC01305, LINC01473, LINC01934, LINC01960, LNPK, LOC100129455, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC115945201, LOC120977015, LOC120977016, LOC121725108, 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, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, 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, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, 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, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC132090686, LOC132090687, LOC401021, MAP3K20, MAP3K20-AS1, METAP1D, METTL8, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MTX2, NCKAP1, NEUROD1, NFE2L2, NRAL, NUP35, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PDK1-AS1, PJVK, PLEKHA3, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCRN3, SESTD1, SLC25A12, SP3, SP9, TFPI, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZC3H15, ZNF385B, ZNF804A, ZSWIM2 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:172369557-178718807
- GRCh38:
- Chr2:171513047-177854080
| AGPS, ATF2, ATP5MC3, CDCA7, CHN1, CHRNA1, CIR1, CYBRD1, DLX1, DLX2, DLX2-DT, DYNC1I2, EVX2, GPR155, GPR155-DT, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA6, ITGA6-AS1, LINC01116, LINC01117, LINC01305, LINC01960, LNPK, LOC100129455, LOC100130691, LOC105373757, LOC105373759, LOC107126359, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC112806059, LOC112806060, LOC112806061, LOC115945201, LOC120977015, LOC120977016, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, 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, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132088804, LOC132090686, LOC132090687, LOC401021, MAP3K20, MAP3K20-AS1, METAP1D, MIR10B, MIR1246, MIR3128, MIR4444-1, MIR6512, MIR7704, MIR933, MTX2, NFE2L2, NRAL, OLA1, PDE11A, PDE11A-AS1, PDK1, PDK1-AS1, RAPGEF4, RAPGEF4-AS1, SCRN3, SLC25A12, SP3, SP9, WIPF1 | | See cases | Pathogenic (Jun 18, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:173231480-177225915
- GRCh38:
- Chr2:172366752-176361187
| ATF2, ATP5MC3, CDCA7, CHN1, CHRNA1, CIR1, EVX2, GPR155, GPR155-DT, HAGLR, HAGLROS, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, LOC107126359, HOXD9, ITGA6, ITGA6-AS1, LINC01305, LINC01960, LNPK, LOC100129455, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120790, LOC110120809, LOC112806059, LOC112806060, LOC120977015, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, 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, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132090686, LOC132090687, LOC401021, MAP3K20, MAP3K20-AS1, MIR10B, MIR7704, MIR933, MTX2, OLA1, PDK1, PDK1-AS1, RAPGEF4, RAPGEF4-AS1, SCRN3, SP3, SP9, WIPF1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:173644604-178462728
- GRCh38:
- Chr2:172779876-177598000
| GPR155, GPR155-DT, HAGLR, HAGLROS, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70B, LINC01116, LINC01117, LINC01305, LINC01960, LNPK, LOC100129455, LOC100130691, LOC105373757, LOC105373759, LOC107126359, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120790, LOC110120809, LOC112806060, LOC112806061, LOC120977015, LOC120977016, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, 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, LOC132088802, LOC132088803, LOC401021, MAP3K20, MAP3K20-AS1, MIR10B, MIR1246, MIR3128, MIR4444-1, MIR6512, MIR7704, MIR933, MTX2, NFE2L2, NRAL, OLA1, RAPGEF4, SCRN3, SP3, SP9, WIPF1, AGPS, ATF2, ATP5MC3, CDCA7, CHN1, CHRNA1, CIR1, EVX2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:174272789-178567215
- GRCh38:
- Chr2:173408061-177702487
| AGPS, ATF2, ATP5MC3, CHN1, CHRNA1, CIR1, EVX2, GPR155, GPR155-DT, HAGLR, HAGLROS, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, LINC01116, LINC01117, LINC01305, LINC01960, LNPK, LOC100129455, LOC100130691, LOC105373757, LOC105373759, LOC107126359, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120790, LOC110120809, LOC112806060, LOC112806061, LOC120977015, LOC120977016, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, 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, LOC401021, MIR10B, MIR1246, MIR3128, MIR4444-1, MIR6512, MIR7704, MIR933, MTX2, NFE2L2, NRAL, OLA1, PDE11A, PDE11A-AS1, SCRN3, SP3, SP9, WIPF1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:174564007-176450798
- GRCh38:
- Chr2:173699279-175586070
| ATF2, ATP5MC3, CHN1, CHRNA1, CIR1, GPR155, GPR155-DT, LINC01305, LINC01960, LOC110120625, LOC110120626, LOC110120790, LOC110120809, LOC112806060, LOC120977015, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, 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, MIR933, OLA1, SCRN3, SP3, SP9, WIPF1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:174578566-176332190
- GRCh38:
- Chr2:173713838-175467462
| ATF2, ATP5MC3, CHN1, CHRNA1, CIR1, GPR155, GPR155-DT, LINC01305, LINC01960, LOC110120625, LOC110120626, LOC110120790, LOC110120809, LOC112806060, LOC120977015, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC126806408, LOC126806409, LOC126806410, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, 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, MIR933, OLA1, SCRN3, SP3, SP9, WIPF1 | | See cases | Pathogenic (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:174578566-176332190
- GRCh38:
- Chr2:173713838-175467462
| ATF2, ATP5MC3, CHN1, CHRNA1, CIR1, GPR155, GPR155-DT, LINC01305, LINC01960, LOC110120625, LOC110120626, LOC110120790, LOC110120809, LOC112806060, LOC120977015, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC126806408, LOC126806409, LOC126806410, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, 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, MIR933, OLA1, SCRN3, SP3, SP9, WIPF1 | | See cases | conflicting data from submitters (Jul 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:175101179-182053573
- GRCh38:
- Chr2:174236451-181188846
| AGPS, ATF2, ATP5MC3, CCDC141, CHN1, CHRNA1, CHROMR, CIR1, CWC22, EPCART, EVX2, FKBP7, GPR155, GPR155-DT, HAGLR, HAGLROS, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, LINC01116, LINC01117, LINC01305, LINC01934, LNPK, LOC100129455, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC107126359, LOC110120627, LOC110120628, LOC110120790, LOC110120809, LOC112806061, LOC112806062, LOC120977015, LOC120977016, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, 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, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC401021, MIR10B, MIR1246, MIR1258, MIR3128, MIR4444-1, MIR6512, MIR7704, MIR933, MTX2, NFE2L2, NRAL, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PJVK, PLEKHA3, PRKRA, RBM45, SCHLAP1, SCRN3, SESTD1, SP9, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZNF385B, LOC122861259, LOC122861260, 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, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146 | | See cases | Pathogenic (Sep 18, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:175499230-189865690
- GRCh38:
- Chr2:174634502-189000964
| AGPS, ATF2, ATP5MC3, CALCRL, CALCRL-AS1, CCDC141, CERKL, CHN1, CHRNA1, CHROMR, COL3A1, CWC22, DIRC1, DNAJC10, DUSP19, EPCART, EVX2, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GULP1, HAGLR, HAGLROS, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01116, LINC01117, LINC01473, LINC01934, LNPK, LOC100129455, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120627, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC120977015, LOC120977016, LOC121725108, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, 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, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, 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, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC401021, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MTX2, NCKAP1, NEUROD1, NFE2L2, NRAL, NUP35, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PJVK, PLEKHA3, PPP1R1C, PRKRA, RBM45, SCHLAP1, SESTD1, TFPI, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZC3H15, ZNF385B, ZNF804A, ZSWIM2 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr2:174747592-174754414
| CHRNA1, LOC129935149, LOC129935150 | | Lethal multiple pterygium syndrome | Pathogenic (Dec 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612353
- GRCh38:
- Chr2:174747625
| CHRNA1 | | not provided, Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
| Conflicting interpretations of pathogenicity (May 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175612386
- GRCh38:
- Chr2:174747658
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612391
- GRCh38:
- Chr2:174747663
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612426
- GRCh38:
- Chr2:174747698
| CHRNA1 | | not provided, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
| Benign/Likely benign (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612430
- GRCh38:
- Chr2:174747702
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175612438
- GRCh38:
- Chr2:174747710
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612441
- GRCh38:
- Chr2:174747713
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175612469
- GRCh38:
- Chr2:174747741
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612494
- GRCh38:
- Chr2:174747766
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612542
- GRCh38:
- Chr2:174747814
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612564
- GRCh38:
- Chr2:174747836
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612577
- GRCh38:
- Chr2:174747849
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612634
- GRCh38:
- Chr2:174747906
| CHRNA1 | | Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, not provided
| Benign/Likely benign (Nov 5, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612722
- GRCh38:
- Chr2:174747994
| CHRNA1 | | Congenital myasthenic syndrome, Lethal multiple pterygium syndrome | Uncertain significance (Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612751
- GRCh38:
- Chr2:174748023
| CHRNA1 | | Congenital myasthenic syndrome, Lethal multiple pterygium syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612842-175629600
- GRCh38:
- Chr2:174748114-174764872
| CHRNA1, LOC122861243, LOC129935149, LOC129935150 | | Lethal multiple pterygium syndrome | Uncertain significance (Oct 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612881
- GRCh38:
- Chr2:174748153
| CHRNA1 | R474*, R449* | not provided, Lethal multiple pterygium syndrome | Uncertain significance (Aug 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612883
- GRCh38:
- Chr2:174748155
| CHRNA1 | G473D, G448D | not provided, Lethal multiple pterygium syndrome | Uncertain significance (Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612892
- GRCh38:
- Chr2:174748164
| CHRNA1 | V445E, V470E | Lethal multiple pterygium syndrome | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612893
- GRCh38:
- Chr2:174748165
| CHRNA1 | V445M, V470M | Lethal multiple pterygium syndrome | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612894
- GRCh38:
- Chr2:174748166
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Conflicting interpretations of pathogenicity (Apr 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175612897
- GRCh38:
- Chr2:174748169
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612905
- GRCh38:
- Chr2:174748177
| CHRNA1 | G441R, G466R | not provided, Lethal multiple pterygium syndrome | Pathogenic/Likely pathogenic (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612906
- GRCh38:
- Chr2:174748178
| CHRNA1 | | Lethal multiple pterygium syndrome, not specified | Likely benign (Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612907
- GRCh38:
- Chr2:174748179
| CHRNA1 | I440T, I465T | CHRNA1-related condition | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612908
- GRCh38:
- Chr2:174748180
| CHRNA1 | I465V, I440V | Lethal multiple pterygium syndrome | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612912
- GRCh38:
- Chr2:174748184
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Nov 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612912
- GRCh38:
- Chr2:174748184
| CHRNA1 | C438W, C463W | Congenital myasthenic syndrome 1A | Pathogenic (Jul 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr2:175612914
- GRCh38:
- Chr2:174748186
| CHRNA1 | C438R, C463R | not provided | Uncertain significance (Jun 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612932
- GRCh38:
- Chr2:174748204
| CHRNA1 | G432R, G457R | Congenital myasthenic syndrome, not provided, Inborn genetic diseases, Lethal multiple pterygium syndrome | Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175612933
- GRCh38:
- Chr2:174748205
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175612938
- GRCh38:
- Chr2:174748210
| CHRNA1 | L430F, L455F | Congenital myasthenic syndrome, Lethal multiple pterygium syndrome | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612942
- GRCh38:
- Chr2:174748214
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612948
- GRCh38:
- Chr2:174748220
| CHRNA1 | M426I, M451I | Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612957
- GRCh38:
- Chr2:174748229
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612960
- GRCh38:
- Chr2:174748232
| CHRNA1 | | Lethal multiple pterygium syndrome | Uncertain significance (May 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612962
- GRCh38:
- Chr2:174748234
| CHRNA1 | V447I, V422I | not provided, Lethal multiple pterygium syndrome | Uncertain significance (Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612963
- GRCh38:
- Chr2:174748235
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612971
- GRCh38:
- Chr2:174748243
| CHRNA1 | W419R, W444R | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612972
- GRCh38:
- Chr2:174748244
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Jan 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612978
- GRCh38:
- Chr2:174748250
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612978
- GRCh38:
- Chr2:174748250
| CHRNA1 | | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome | Conflicting interpretations of pathogenicity (Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175612979
- GRCh38:
- Chr2:174748251
| CHRNA1 | A441V, A416V | not provided, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
| Uncertain significance (Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175612981
- GRCh38:
- Chr2:174748253
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612981
- GRCh38:
- Chr2:174748253
| CHRNA1 | | Lethal multiple pterygium syndrome | Uncertain significance (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612982
- GRCh38:
- Chr2:174748254
| CHRNA1 | A415V, A440V | Lethal multiple pterygium syndrome | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612986
- GRCh38:
- Chr2:174748258
| CHRNA1 | | Lethal multiple pterygium syndrome | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175612990
- GRCh38:
- Chr2:174748262
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613021
- GRCh38:
- Chr2:174748293
| CHRNA1 | | not specified | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613059
- GRCh38:
- Chr2:174748331
| CHRNA1 | | not provided | Benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613115
- GRCh38:
- Chr2:174748387
| CHRNA1 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613165
- GRCh38:
- Chr2:174748437
| CHRNA1 | | not provided | Benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613169
- GRCh38:
- Chr2:174748441
| CHRNA1 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613273
- GRCh38:
- Chr2:174748545
| CHRNA1 | | not specified, not provided | Benign (Aug 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175613291
- GRCh38:
- Chr2:174748563
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613297
- GRCh38:
- Chr2:174748569
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613298
- GRCh38:
- Chr2:174748570
| CHRNA1 | | Lethal multiple pterygium syndrome, not specified | Likely benign (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175613308
- GRCh38:
- Chr2:174748580
| CHRNA1 | N439K, N414K | not provided, Lethal multiple pterygium syndrome | Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175613317
- GRCh38:
- Chr2:174748589
| CHRNA1 | E411D, E436D | not provided, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome, not specified | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175613329
- GRCh38:
- Chr2:174748601
| CHRNA1 | K407N, K432N | Lethal multiple pterygium syndrome, not provided | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175613344
- GRCh38:
- Chr2:174748616
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613351
- GRCh38:
- Chr2:174748623
| CHRNA1 | K425R, K400R | Lethal multiple pterygium syndrome | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613356
- GRCh38:
- Chr2:174748628
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613361
- GRCh38:
- Chr2:174748633
| CHRNA1 | E397K, E422K | not provided | Uncertain significance (Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613366
- GRCh38:
- Chr2:174748638
| CHRNA1 | A395V, A420V | Lethal multiple pterygium syndrome, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175613368
- GRCh38:
- Chr2:174748640
| CHRNA1 | S394R, S419R | not provided, Lethal multiple pterygium syndrome | Uncertain significance (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175613379
- GRCh38:
- Chr2:174748651
| CHRNA1 | E416K, E391K | Lethal multiple pterygium syndrome | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613380
- GRCh38:
- Chr2:174748652
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613388
- GRCh38:
- Chr2:174748660
| CHRNA1 | K388Q, K413Q | Lethal multiple pterygium syndrome | Uncertain significance (Nov 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613397
- GRCh38:
- Chr2:174748669
| CHRNA1 | P410S, P385S | not provided | Uncertain significance (Feb 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613399
- GRCh38:
- Chr2:174748671
| CHRNA1 | S409F, S384F | Lethal multiple pterygium syndrome | Uncertain significance (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613407
- GRCh38:
- Chr2:174748679
| CHRNA1 | | not provided, Lethal multiple pterygium syndrome | Conflicting interpretations of pathogenicity (Feb 22, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175613411
- GRCh38:
- Chr2:174748683
| CHRNA1 | M405T, M380T | Lethal multiple pterygium syndrome, not provided | Conflicting interpretations of pathogenicity (Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175613420
- GRCh38:
- Chr2:174748692
| CHRNA1 | P377R, P402R | not provided | Uncertain significance (Aug 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613422
- GRCh38:
- Chr2:174748694
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613427
- GRCh38:
- Chr2:174748699
| CHRNA1 | P375S, P400S | Lethal multiple pterygium syndrome | Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613453
- GRCh38:
- Chr2:174748725
| CHRNA1 | I366T, I391T | Lethal multiple pterygium syndrome, Inborn genetic diseases | Uncertain significance (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175613462
- GRCh38:
- Chr2:174748734
| CHRNA1 | T363R, T388R | Lethal multiple pterygium syndrome | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613462
- GRCh38:
- Chr2:174748734
| CHRNA1 | T363I, T388I | Lethal multiple pterygium syndrome | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613477
- GRCh38:
- Chr2:174748749
| CHRNA1 | D383V, D358V | not specified, Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:175613479
- GRCh38:
- Chr2:174748751
| CHRNA1 | | Lethal multiple pterygium syndrome | Likely benign (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613483
- GRCh38:
- Chr2:174748755
| CHRNA1 | K356T, K381T | Inborn genetic diseases, Lethal multiple pterygium syndrome, not provided
| Conflicting interpretations of pathogenicity (Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175613486
- GRCh38:
- Chr2:174748758
| CHRNA1 | E355G, E380G | not provided, Lethal multiple pterygium syndrome | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:175613492
- GRCh38:
- Chr2:174748764
| CHRNA1 | S378Y, S353Y | Lethal multiple pterygium syndrome | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:175613497
- GRCh38:
- Chr2:174748769
| CHRNA1 | R351S, R376S | Lethal multiple pterygium syndrome | Uncertain significance (Aug 25, 2021) | criteria provided, single submitter |