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Items: 1 to 100 of 1182

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:
Chr2:155223300-167905412
GRCh38:
Chr2:154366788-167048902
ACVR1, ACVR1C, BAZ2B, BAZ2B-AS1, CCDC148, CCDC148-AS1, CD302, COBLL1, CSRNP3, CYTIP, DAPL1, DPP4, DPP4-DT, ERMN, FAP, FIGN, FLJ46875, GALNT13, GALNT13-AS1, GALNT3, GALNT5, GCA, GCG, GPD2, GRB14, IFIH1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, LINC01806, LINC01876, LINC02478, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120677, LOC110120708, LOC110120710, LOC110120725, LOC110120736, LOC110121120, LOC110121242, LOC111413009, LOC111556122, LOC112806056, LOC112806057, LOC114827830, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC121725105, LOC121725106, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129388938, 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, 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, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LY75, LY75-CD302, MARCHF7, MIR4785, MIR6888, NR4A2, PKP4, PKP4-AS1, PLA2R1, PSMD14, PSMD14-DT, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, SLC4A10, SNORA70F, TANC1, TANK, TANK-AS1, WDSUB1, TBR1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UPP2, XIRP2
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
3.
GRCh37:
Chr2:159238900-167462268
GRCh38:
Chr2:158382388-166605758
BAZ2B, BAZ2B-AS1, CCDC148, CD302, COBLL1, CSRNP3, DAPL1, DPP4, DPP4-DT, FAP, FIGN, GALNT3, GCA, GCG, GRB14, IFIH1, ITGB6, KCNH7, KCNH7-AS1, LINC01806, LINC02478, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120676, LOC110120677, LOC110120725, LOC110121120, LOC110121242, LOC111413009, LOC112806056, LOC112806057, LOC114827830, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC121725106, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LOC129388938, 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, 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, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LY75, LY75-CD302, MARCHF7, MIR4785, MIR6888, PKP4, PKP4-AS1, PLA2R1, PSMD14, PSMD14-DT, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, SLC4A10, SNORA70F, TANC1, TANK, TANK-AS1, TBR1, TTC21B, TTC21B-AS1, WDSUB1
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
4.
GRCh37:
Chr2:164311800-167818832
GRCh38:
Chr2:163455290-166962322
COBLL1, CSRNP3, FIGN, GALNT3, GRB14, LOC100506124, LOC101929633, LOC102724058, LOC110120601, LOC110120677, LOC110120725, LOC111413009, LOC112806057, LOC120977013, LOC121725106, LOC122847308, LOC126806394, LOC126806395, LOC126806396, LOC129388938, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, SNORA70F, TTC21B, TTC21B-AS1, XIRP2
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
5.
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
6.
GRCh37:
Chr2:164922548-172962614
GRCh38:
Chr2:164066038-172097886
LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC132088794, LRP2, METAP1D, METTL5, METTL8, MIR4774, MYO3B, MYO3B-AS1, NOSTRIN, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC25A12, SLC38A11, SNORA70F, SNORD3K, SP5, SPC25, SSB, STK39, TLK1, TTC21B, TTC21B-AS1, UBR3, XIRP2, XIRP2-AS1, ABCB11, B3GALT1, B3GALT1-AS1, BBS5, CERS6, CERS6-AS1, CFAP210, COBLL1, CSRNP3, CYBRD1, DCAF17, DHRS9, DLX1, DYNC1I2, ERICH2, ERICH2-DT, FASTKD1, G6PC2, GAD1, GALNT3, GORASP2, GRB14, HAT1, KLHL23, KLHL41, LINC01124, LOC100130256, LOC100506124, LOC101929633, LOC102724058, LOC110120678, LOC110120701, LOC110120730, LOC110121216, LOC111413009, LOC112806057, LOC112806058, LOC115945201, LOC120977013, LOC120977014, LOC121725107, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
7.
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
8.
GRCh37:
Chr2:165777072-168392949
GRCh38:
Chr2:164920562-167536439
B3GALT1, CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC122847309, LOC126806396, LOC126806397, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, TTC21B, TTC21B-AS1, XIRP2, XIRP2-AS1
See casesPathogenic
(Apr 30, 2010)		no assertion criteria provided
9.
GRCh38:
Chr2:165047221-166068633
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, TTC21B, TTC21B-AS1
Epilepsy of infancy with migrating focal seizuresPathogenic
(Sep 26, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr2:165946640-167143153
GRCh38:
Chr2:165090130-166286643
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN9A, TTC21B, TTC21B-AS1
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Early infantile epileptic encephalopathy with suppression bursts
Pathogenic
(Aug 20, 2021)		criteria provided, single submitter
11.
GRCh37:
Chr2:165946640-167168286
GRCh38:
Chr2:165090130-166311776
LOC100506124, LOC102724058, LOC120977013, LOC129935043, LOC129935044, LOC126806396, LOC129388938, GALNT3, CSRNP3, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN9A, TTC21B, TTC21B-AS1
Early infantile epileptic encephalopathy with suppression burstsPathogenic
(Oct 28, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr2:165946640-167085502
GRCh38:
Chr2:165090130-166228992
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN9A, TTC21B, TTC21B-AS1
Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Early infantile epileptic encephalopathy with suppression bursts
Pathogenic
(Oct 17, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr2:166079508-167521122
GRCh38:
Chr2:165222998-166664612
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN7A, SCN9A, TTC21B, TTC21B-AS1
See casesPathogenic
(Jun 22, 2015)		no assertion criteria provided
14.
GRCh37:
Chr2:166094935-166971492
GRCh38:
Chr2:165238425-166114982
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, TTC21B, TTC21B-AS1
See casesPathogenic
(Sep 27, 2013)		no assertion criteria provided
15.
GRCh38:
Chr2:165284919-167536383
B3GALT1, CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC122847309, LOC126806396, LOC126806397, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, SCN1A, SCN1A-AS1, SCN2A, SCN7A, SCN9A, TTC21B, TTC21B-AS1, XIRP2, XIRP2-AS1
West syndromePathogenic
(Sep 26, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr2:166152314-167108415
GRCh38:
Chr2:165295804-166251905
LOC100506124, LOC129388938, LOC129935044, LOC102724058, LOC126806396, LOC129935045, LOC129935046, LOC129935047, CSRNP3, GALNT3, SCN1A, SCN1A-AS1, SCN2A, SCN9A, TTC21B, TTC21B-AS1
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Early infantile epileptic encephalopathy with suppression bursts
Uncertain significance
(Nov 13, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr2:166398623-166993560
GRCh38:
Chr2:165542113-166137050
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, TTC21B, TTC21B-AS1
See casesUncertain significance
(Jul 30, 2009)		no assertion criteria provided
18.
GRCh37:
Chr2:166399472-167008583
GRCh38:
Chr2:165542962-166152073
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, TTC21B, TTC21B-AS1
See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
19.
GRCh37:
Chr2:166730040
GRCh38:
Chr2:165873530
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12Likely benign
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr2:166730141-166730142
GRCh38:
Chr2:165873631-165873632
TTC21BJeune thoracic dystrophy, Familial aplasia of the vermisUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
21.
GRCh37:
Chr2:166730148
GRCh38:
Chr2:165873638
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr2:166730158
GRCh38:
Chr2:165873648
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr2:166730160
GRCh38:
Chr2:165873650
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Benign
(Jan 12, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr2:166730161
GRCh38:
Chr2:165873651
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr2:166730178
GRCh38:
Chr2:165873668
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Likely benign
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr2:166730291
GRCh38:
Chr2:165873781
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12Benign
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr2:166730339
GRCh38:
Chr2:165873829
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr2:166730355
GRCh38:
Chr2:165873845
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr2:166730387
GRCh38:
Chr2:165873877
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Benign
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr2:166730418
GRCh38:
Chr2:165873908
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Likely benign
(Jan 12, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr2:166730535
GRCh38:
Chr2:165874025
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr2:166730584
GRCh38:
Chr2:165874074
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr2:166730585
GRCh38:
Chr2:165874075
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr2:166730609
GRCh38:
Chr2:165874099
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Likely benign
(Jan 12, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr2:166730623
GRCh38:
Chr2:165874113
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr2:166730672
GRCh38:
Chr2:165874162
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr2:166730721
GRCh38:
Chr2:165874211
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr2:166730725
GRCh38:
Chr2:165874215
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr2:166730734
GRCh38:
Chr2:165874224
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Benign
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr2:166730748
GRCh38:
Chr2:165874238
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Benign
(Jan 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr2:166730749
GRCh38:
Chr2:165874239
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Likely benign
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr2:166730792
GRCh38:
Chr2:165874282
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr2:166730805
GRCh38:
Chr2:165874295
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr2:166730814
GRCh38:
Chr2:165874304
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr2:166730841
GRCh38:
Chr2:165874331
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr2:166730846
GRCh38:
Chr2:165874336
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr2:166730905
GRCh38:
Chr2:165874395
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr2:166731019
GRCh38:
Chr2:165874509
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr2:166731160
GRCh38:
Chr2:165874650
LOC129935046, TTC21BAsphyxiating thoracic dystrophy 4, not provided, Nephronophthisis 12
Benign
(Aug 17, 2018)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:166731245-167168286
GRCh38:
Chr2:165874735-166311776
LOC102724058, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN9A, TTC21B, TTC21B-AS1Early infantile epileptic encephalopathy with suppression burstsPathogenic
(Nov 11, 2019)		criteria provided, single submitter
51.
GRCh37:
Chr2:166731269
GRCh38:
Chr2:165874759
TTC21BP1316LJeune thoracic dystrophy, NephronophthisisUncertain significance
(Aug 31, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr2:166731274
GRCh38:
Chr2:165874764
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Sep 1, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr2:166731277
GRCh38:
Chr2:165874767
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(May 6, 2021)		criteria provided, single submitter
54.
GRCh37:
Chr2:166731280
GRCh38:
Chr2:165874770
TTC21Bnot provided, Jeune thoracic dystrophy, Nephronophthisis
Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:166731281
GRCh38:
Chr2:165874771
TTC21BA1312VNephronophthisis, Jeune thoracic dystrophyUncertain significance
(Nov 1, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr2:166731284
GRCh38:
Chr2:165874774
TTC21BR1311LJeune thoracic dystrophy, NephronophthisisUncertain significance
(Aug 13, 2021)		criteria provided, single submitter
57.
GRCh37:
Chr2:166731284
GRCh38:
Chr2:165874774
TTC21BR1311HJeune thoracic dystrophy, Nephronophthisis, not provided,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12		Uncertain significance
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:166731285
GRCh38:
Chr2:165874775
TTC21BR1311CInborn genetic diseases, Jeune thoracic dystrophy, Nephronophthisis,
not provided, Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:166731301
GRCh38:
Chr2:165874791
TTC21BD1305EInborn genetic diseases, not provided, Nephronophthisis,
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
Uncertain significance
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:166731302
GRCh38:
Chr2:165874792
TTC21BD1305VJeune thoracic dystrophy, NephronophthisisUncertain significance
(Sep 17, 2021)		criteria provided, single submitter
61.
GRCh37:
Chr2:166731302
GRCh38:
Chr2:165874792
TTC21BD1305GJeune thoracic dystrophy, Nephronophthisis, not provided,
Nephronophthisis 12, Asphyxiating thoracic dystrophy 4		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr2:166731304
GRCh38:
Chr2:165874794
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Sep 22, 2021)		criteria provided, single submitter
63.
GRCh37:
Chr2:166731307
GRCh38:
Chr2:165874797
TTC21BNephronophthisis, Jeune thoracic dystrophyLikely benign
(May 14, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr2:166731310
GRCh38:
Chr2:165874800
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(May 16, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr2:166731330
GRCh38:
Chr2:165874820
TTC21BH1296fsJeune thoracic dystrophy, NephronophthisisUncertain significance
(Apr 25, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr2:166731352-166731355
GRCh38:
Chr2:165874842-165874845
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis,
Jeune thoracic dystrophy		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:166731355
GRCh38:
Chr2:165874845
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Nov 1, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr2:166731356
GRCh38:
Chr2:165874846
TTC21BJeune thoracic dystrophy, Nephronophthisis, not provided,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12, not specified
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr2:166731361
GRCh38:
Chr2:165874851
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Jul 19, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr2:166731547
GRCh38:
Chr2:165875037
TTC21Bnot providedLikely benign
(Aug 19, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr2:166731577-166731578
GRCh38:
Chr2:165875067-165875068
TTC21Bnot providedBenign
(Jul 7, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr2:166731608
GRCh38:
Chr2:165875098
TTC21Bnot providedLikely benign
(Jul 7, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr2:166731643
GRCh38:
Chr2:165875133
TTC21Bnot providedLikely benign
(Jul 14, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr2:166732527
GRCh38:
Chr2:165876017
TTC21Bnot providedBenign
(Jun 26, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr2:166732655
GRCh38:
Chr2:165876145
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Aug 16, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr2:166732664
GRCh38:
Chr2:165876154
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Dec 29, 2021)		criteria provided, single submitter
77.
GRCh37:
Chr2:166732665
GRCh38:
Chr2:165876155
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr2:166732668
GRCh38:
Chr2:165876158
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Jun 13, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr2:166732692
GRCh38:
Chr2:165876182
TTC21BI1286VConnective tissue disorderUncertain significance
(Jun 1, 2019)		criteria provided, single submitter
80.
GRCh37:
Chr2:166732698
GRCh38:
Chr2:165876188
TTC21BD1284HJeune thoracic dystrophy, Nephronophthisis, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:166732702
GRCh38:
Chr2:165876192
TTC21BNephronophthisis, Jeune thoracic dystrophyLikely benign
(Sep 30, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr2:166732705
GRCh38:
Chr2:165876195
TTC21BJeune thoracic dystrophy, NephronophthisisUncertain significance
(Aug 21, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr2:166732720
GRCh38:
Chr2:165876210
TTC21Bnot providedLikely benign
(Apr 16, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr2:166732729
GRCh38:
Chr2:165876219
TTC21BJeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4		Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr2:166732739
GRCh38:
Chr2:165876229
TTC21BY1270CJeune thoracic dystrophy, NephronophthisisUncertain significance
(Oct 19, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr2:166732744
GRCh38:
Chr2:165876234
TTC21Bnot providedLikely pathogenic
(Apr 10, 2021)		criteria provided, single submitter
87.
GRCh37:
Chr2:166732745
GRCh38:
Chr2:165876235
TTC21BJeune thoracic dystrophy, NephronophthisisUncertain significance
(Feb 18, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr2:166732759
GRCh38:
Chr2:165876249
TTC21BNephronophthisis, Jeune thoracic dystrophyLikely benign
(Sep 27, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr2:166732760
GRCh38:
Chr2:165876250
TTC21BNephronophthisis, Jeune thoracic dystrophyUncertain significance
(Apr 30, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr2:166732838
GRCh38:
Chr2:165876328
TTC21Bnot providedBenign
(Jul 7, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr2:166732873
GRCh38:
Chr2:165876363
TTC21Bnot providedBenign
(Aug 17, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr2:166733029
GRCh38:
Chr2:165876519
TTC21Bnot providedLikely benign
(Dec 31, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr2:166737169
GRCh38:
Chr2:165880659
TTC21BNephronophthisis, Jeune thoracic dystrophyLikely benign
(Mar 29, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr2:166737174
GRCh38:
Chr2:165880664
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Feb 22, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr2:166737176
GRCh38:
Chr2:165880666
TTC21BNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr2:166737178
GRCh38:
Chr2:165880668
TTC21BNephronophthisis, Jeune thoracic dystrophyLikely benign
(Jul 26, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr2:166737187
GRCh38:
Chr2:165880677
TTC21Bnot providednot providedno assertion provided
98.
GRCh37:
Chr2:166737190
GRCh38:
Chr2:165880680
TTC21BJeune thoracic dystrophy, NephronophthisisUncertain significance
(Sep 30, 2021)		criteria provided, single submitter
99.
GRCh37:
Chr2:166737192
GRCh38:
Chr2:165880682
TTC21BV1268INephronophthisis, Jeune thoracic dystrophyUncertain significance
(May 12, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr2:166737196
GRCh38:
Chr2:165880686
TTC21BJeune thoracic dystrophy, NephronophthisisLikely benign
(Aug 12, 2022)		criteria provided, single submitter
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