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Items: 1 to 100 of 468

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
6.
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 casesPathogenic
(Jun 18, 2012)
no assertion criteria provided
7.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr2:174564007-176450798
GRCh38:
Chr2:173699279-175586070
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr2:174578566-176332190
GRCh38:
Chr2:173713838-175467462
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
12.
GRCh37:
Chr2:174578566-176332190
GRCh38:
Chr2:173713838-175467462
See casesconflicting data from submitters
(Jul 2, 2012)
no assertion criteria provided
13.
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 casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
14.
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 casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
15.
GRCh38:
Chr2:174747592-174754414
CHRNA1, LOC129935149, LOC129935150Lethal multiple pterygium syndromePathogenic
(Dec 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr2:175612353
GRCh38:
Chr2:174747625
CHRNA1not provided, Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
Conflicting interpretations of pathogenicity
(May 22, 2021)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr2:175612386
GRCh38:
Chr2:174747658
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr2:175612391
GRCh38:
Chr2:174747663
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr2:175612426
GRCh38:
Chr2:174747698
CHRNA1not provided, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
Benign/Likely benign
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:175612430
GRCh38:
Chr2:174747702
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr2:175612438
GRCh38:
Chr2:174747710
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr2:175612441
GRCh38:
Chr2:174747713
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr2:175612469
GRCh38:
Chr2:174747741
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr2:175612494
GRCh38:
Chr2:174747766
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr2:175612542
GRCh38:
Chr2:174747814
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr2:175612564
GRCh38:
Chr2:174747836
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr2:175612577
GRCh38:
Chr2:174747849
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr2:175612634
GRCh38:
Chr2:174747906
CHRNA1Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, not provided
Benign/Likely benign
(Nov 5, 2020)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:175612722
GRCh38:
Chr2:174747994
CHRNA1Congenital myasthenic syndrome, Lethal multiple pterygium syndromeUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr2:175612751
GRCh38:
Chr2:174748023
CHRNA1Congenital myasthenic syndrome, Lethal multiple pterygium syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr2:175612842-175629600
GRCh38:
Chr2:174748114-174764872
CHRNA1, LOC122861243, LOC129935149, LOC129935150Lethal multiple pterygium syndromeUncertain significance
(Oct 8, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr2:175612881
GRCh38:
Chr2:174748153
CHRNA1R474*, R449*not provided, Lethal multiple pterygium syndromeUncertain significance
(Aug 17, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:175612883
GRCh38:
Chr2:174748155
CHRNA1G473D, G448Dnot provided, Lethal multiple pterygium syndromeUncertain significance
(Feb 8, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:175612892
GRCh38:
Chr2:174748164
CHRNA1V445E, V470ELethal multiple pterygium syndromeUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:175612893
GRCh38:
Chr2:174748165
CHRNA1V445M, V470MLethal multiple pterygium syndromeUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:175612894
GRCh38:
Chr2:174748166
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeConflicting interpretations of pathogenicity
(Apr 1, 2022)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr2:175612897
GRCh38:
Chr2:174748169
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Apr 6, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr2:175612905
GRCh38:
Chr2:174748177
CHRNA1G441R, G466Rnot provided, Lethal multiple pterygium syndromePathogenic/Likely pathogenic
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr2:175612906
GRCh38:
Chr2:174748178
CHRNA1Lethal multiple pterygium syndrome, not specifiedLikely benign
(Aug 13, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:175612907
GRCh38:
Chr2:174748179
CHRNA1I440T, I465TCHRNA1-related conditionUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:175612908
GRCh38:
Chr2:174748180
CHRNA1I465V, I440VLethal multiple pterygium syndromeUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr2:175612912
GRCh38:
Chr2:174748184
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Nov 28, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr2:175612912
GRCh38:
Chr2:174748184
CHRNA1C438W, C463WCongenital myasthenic syndrome 1APathogenic
(Jul 1, 2006)
no assertion criteria provided
44.
GRCh37:
Chr2:175612914
GRCh38:
Chr2:174748186
CHRNA1C438R, C463Rnot providedUncertain significance
(Jun 10, 2020)
criteria provided, single submitter
45.
GRCh37:
Chr2:175612932
GRCh38:
Chr2:174748204
CHRNA1G432R, G457RCongenital myasthenic syndrome, not provided, Inborn genetic diseases,
Lethal multiple pterygium syndrome
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr2:175612933
GRCh38:
Chr2:174748205
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr2:175612938
GRCh38:
Chr2:174748210
CHRNA1L430F, L455FCongenital myasthenic syndrome, Lethal multiple pterygium syndromeUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:175612942
GRCh38:
Chr2:174748214
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Jun 20, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr2:175612948
GRCh38:
Chr2:174748220
CHRNA1M426I, M451IInborn genetic diseasesUncertain significance
(Feb 28, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr2:175612957
GRCh38:
Chr2:174748229
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Jul 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:175612960
GRCh38:
Chr2:174748232
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(May 22, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr2:175612962
GRCh38:
Chr2:174748234
CHRNA1V447I, V422Inot provided, Lethal multiple pterygium syndromeUncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:175612963
GRCh38:
Chr2:174748235
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Sep 16, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr2:175612971
GRCh38:
Chr2:174748243
CHRNA1W419R, W444RLethal multiple pterygium syndrome, Congenital myasthenic syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr2:175612972
GRCh38:
Chr2:174748244
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Jan 15, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr2:175612978
GRCh38:
Chr2:174748250
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Jul 2, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr2:175612978
GRCh38:
Chr2:174748250
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndromeConflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr2:175612979
GRCh38:
Chr2:174748251
CHRNA1A441V, A416Vnot provided, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
Uncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:175612981
GRCh38:
Chr2:174748253
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Apr 10, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:175612981
GRCh38:
Chr2:174748253
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr2:175612982
GRCh38:
Chr2:174748254
CHRNA1A415V, A440VLethal multiple pterygium syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr2:175612986
GRCh38:
Chr2:174748258
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr2:175612990
GRCh38:
Chr2:174748262
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Nov 1, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr2:175613021
GRCh38:
Chr2:174748293
CHRNA1not specifiedBenigncriteria provided, single submitter
65.
GRCh37:
Chr2:175613059
GRCh38:
Chr2:174748331
CHRNA1not providedBenign
(Jun 19, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr2:175613115
GRCh38:
Chr2:174748387
CHRNA1not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr2:175613165
GRCh38:
Chr2:174748437
CHRNA1not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr2:175613169
GRCh38:
Chr2:174748441
CHRNA1not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr2:175613273
GRCh38:
Chr2:174748545
CHRNA1not specified, not providedBenign
(Aug 14, 2018)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr2:175613291
GRCh38:
Chr2:174748563
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Mar 21, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr2:175613297
GRCh38:
Chr2:174748569
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Jun 25, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr2:175613298
GRCh38:
Chr2:174748570
CHRNA1Lethal multiple pterygium syndrome, not specifiedLikely benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:175613308
GRCh38:
Chr2:174748580
CHRNA1N439K, N414Knot provided, Lethal multiple pterygium syndromeUncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:175613317
GRCh38:
Chr2:174748589
CHRNA1E411D, E436Dnot provided, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome,
not specified
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:175613329
GRCh38:
Chr2:174748601
CHRNA1K407N, K432NLethal multiple pterygium syndrome, not providedUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:175613344
GRCh38:
Chr2:174748616
CHRNA1Lethal multiple pterygium syndromeLikely benign
(May 15, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr2:175613351
GRCh38:
Chr2:174748623
CHRNA1K425R, K400RLethal multiple pterygium syndromeUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr2:175613356
GRCh38:
Chr2:174748628
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Jun 4, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr2:175613361
GRCh38:
Chr2:174748633
CHRNA1E397K, E422Knot providedUncertain significance
(Jun 16, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr2:175613366
GRCh38:
Chr2:174748638
CHRNA1A395V, A420VLethal multiple pterygium syndrome, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:175613368
GRCh38:
Chr2:174748640
CHRNA1S394R, S419Rnot provided, Lethal multiple pterygium syndromeUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:175613379
GRCh38:
Chr2:174748651
CHRNA1E416K, E391KLethal multiple pterygium syndromeUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr2:175613380
GRCh38:
Chr2:174748652
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Oct 4, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:175613388
GRCh38:
Chr2:174748660
CHRNA1K388Q, K413QLethal multiple pterygium syndromeUncertain significance
(Nov 13, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr2:175613397
GRCh38:
Chr2:174748669
CHRNA1P410S, P385Snot providedUncertain significance
(Feb 1, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr2:175613399
GRCh38:
Chr2:174748671
CHRNA1S409F, S384FLethal multiple pterygium syndromeUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr2:175613407
GRCh38:
Chr2:174748679
CHRNA1not provided, Lethal multiple pterygium syndromeConflicting interpretations of pathogenicity
(Feb 22, 2019)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr2:175613411
GRCh38:
Chr2:174748683
CHRNA1M405T, M380TLethal multiple pterygium syndrome, not providedConflicting interpretations of pathogenicity
(Sep 28, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr2:175613420
GRCh38:
Chr2:174748692
CHRNA1P377R, P402Rnot providedUncertain significance
(Aug 31, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr2:175613422
GRCh38:
Chr2:174748694
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Aug 29, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr2:175613427
GRCh38:
Chr2:174748699
CHRNA1P375S, P400SLethal multiple pterygium syndromeUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr2:175613453
GRCh38:
Chr2:174748725
CHRNA1I366T, I391TLethal multiple pterygium syndrome, Inborn genetic diseasesUncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr2:175613462
GRCh38:
Chr2:174748734
CHRNA1T363R, T388RLethal multiple pterygium syndromeUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr2:175613462
GRCh38:
Chr2:174748734
CHRNA1T363I, T388ILethal multiple pterygium syndromeUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr2:175613477
GRCh38:
Chr2:174748749
CHRNA1D383V, D358Vnot specified, Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:175613479
GRCh38:
Chr2:174748751
CHRNA1Lethal multiple pterygium syndromeLikely benign
(May 3, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:175613483
GRCh38:
Chr2:174748755
CHRNA1K356T, K381TInborn genetic diseases, Lethal multiple pterygium syndrome, not provided
Conflicting interpretations of pathogenicity
(Sep 1, 2022)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr2:175613486
GRCh38:
Chr2:174748758
CHRNA1E355G, E380Gnot provided, Lethal multiple pterygium syndromeConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr2:175613492
GRCh38:
Chr2:174748764
CHRNA1S378Y, S353YLethal multiple pterygium syndromeUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr2:175613497
GRCh38:
Chr2:174748769
CHRNA1R351S, R376SLethal multiple pterygium syndromeUncertain significance
(Aug 25, 2021)
criteria provided, single submitter
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