| - GRCh37:
- Chr2:144657717-159178136
- GRCh38:
- Chr2:143900149-158321624
| ACVR1, ACVR1C, ACVR2A, ARL5A, ARL6IP6, CACNB4, CCDC148, CCDC148-AS1, CYTIP, EPC2, ERMN, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GPD2, GTDC1, KCNJ3, KIF5C, LINC01412, LINC01817, LINC01818, LINC01876, LINC01911, LINC01920, LINC01931, LINC01966, LINC02612, LINC02993, LOC101928386, LOC101928553, LOC101929319, LOC107228318, LOC108348024, LOC110120671, LOC110120673, LOC110120674, LOC110120675, LOC110120706, LOC110120708, LOC110120710, LOC110120715, LOC110120731, LOC110120736, LOC110121086, LOC110121209, LOC111556122, LOC111721705, LOC112806051, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC121725105, LOC122819163, LOC122819164, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC126806362, LOC126806363, LOC126806364, LOC126806365, LOC126806366, LOC126806367, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC129388929, LOC129388930, LOC129388931, LOC129388932, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129934869, LOC129934870, LOC129934871, LOC129934872, LOC129934873, LOC129934874, LOC129934875, LOC129934876, LOC129934877, LOC129934878, LOC129934879, LOC129934880, LOC129934881, LOC129934882, LOC129934883, LOC129934884, LOC129934885, LOC129934886, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC129934904, LOC129934905, LOC129934906, LOC129934907, LOC129934908, LOC129934909, LOC129934910, LOC129934911, LOC129934912, LOC129934913, LOC129934914, LOC129934915, LOC129934916, LOC129934917, LOC129934918, LOC129934919, LOC129934920, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, 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, LOC132088758, LOC132088759, LOC132088760, LOC132088761, LYPD6, LYPD6B, MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TEX41, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2, UPP2, ZEB2, ZEB2-AS1 | | See cases | Pathogenic (Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr2:148009516-158712890
- GRCh38:
- Chr2:147251948-157856378
| ACVR1, ACVR1C, ACVR2A, ARL5A, ARL6IP6, CACNB4, CYTIP, EPC2, ERMN, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GPD2, KCNJ3, KIF5C, LINC01817, LINC01818, LINC01876, LINC01920, LINC01931, LINC02612, LOC101928553, LOC101929319, LOC108348024, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC110121086, LOC111556122, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC126806365, LOC126806366, LOC126806367, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC129388931, LOC129388932, LOC129388933, LOC129388934, LOC129388935, LOC129934882, LOC129934883, LOC129934884, LOC129934885, LOC129934886, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC129934904, LOC129934905, LOC129934906, LOC129934907, LOC129934908, LOC129934909, LOC129934910, LOC129934911, LOC129934912, LOC129934913, LOC129934914, LOC129934915, LOC129934916, LOC129934917, LOC129934918, LOC129934919, LOC129934920, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, 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, LOC132088759, LOC132088760, LOC132088761, LYPD6, LYPD6B, MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149674855-164061133
- GRCh38:
- Chr2:148917286-163204623
| ACVR1, ACVR1C, ARL5A, ARL6IP6, BAZ2B, BAZ2B-AS1, CACNB4, CCDC148, CCDC148-AS1, CD302, CYTIP, DAPL1, DPP4, DPP4-DT, ERMN, FAP, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GCA, GCG, GPD2, IFIH1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, KIF5C, LINC01806, LINC01817, LINC01818, LINC01876, LINC01920, LINC01931, LINC02478, LINC02612, LOC101928553, LOC101929319, LOC101929532, LOC108175345, LOC108281133, LOC108348024, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120708, LOC110120710, LOC110120736, LOC110121086, LOC110121120, LOC110121242, LOC111556122, LOC112806054, LOC112806055, LOC112806056, LOC114827830, LOC115945200, LOC117152610, LOC117152611, LOC120961787, LOC120977009, LOC120977010, LOC120977011, LOC120977012, LOC121725105, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC129388931, LOC129388932, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC129934904, LOC129934905, LOC129934906, LOC129934907, LOC129934908, LOC129934909, LOC129934910, LOC129934911, LOC129934912, LOC129934913, LOC129934914, LOC129934915, LOC129934916, LOC129934917, LOC129934918, LOC129934919, LOC129934920, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, 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, LOC132088760, 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, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LY75, LY75-CD302, LYPD6, LYPD6B, MARCHF7, MIR4773-1, MIR4773-2, MIR4785, MIR6888, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, PKP4, PKP4-AS1, PLA2R1, PRPF40A, PSMD14, PSMD14-DT, RBM43, RBMS1, RIF1, RND3, RPRM, SLC4A10, STAM2, TANC1, TANK, TANK-AS1, TBR1, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2, UPP2, WDSUB1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:152788858-160276245
- GRCh38:
- Chr2:151932344-159419734
| LOC132088765, LOC132088766, LOC132088767, LOC132088768, LOC132090680, LOC132090681, LOC132090682, LOC132090683, MIR6888, NR4A2, PKP4, PKP4-AS1, PRPF40A, RPRM, STAM2, TANC1, TRA-CGC3-1, TRG-GCC2-2, UPP2, WDSUB1, ACVR1, ACVR1C, ARL6IP6, BAZ2B, CACNB4, CCDC148, CCDC148-AS1, CYTIP, DAPL1, ERMN, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GPD2, KCNJ3, LINC01876, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC110121120, LOC110121242, LOC111556122, LOC112806055, LOC120977010, LOC120977011, LOC121725105, LOC122847296, LOC122847297, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, 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, LOC132088761, LOC132088762, LOC132088763, LOC132088764 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:154466227-159041637
- GRCh38:
- Chr2:153609714-158185125
| ACVR1, ACVR1C, CCDC148, CCDC148-AS1, CYTIP, ERMN, FLJ46875, GALNT13, GALNT13-AS1, GALNT5, GPD2, KCNJ3, LINC01876, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC111556122, LOC121725105, LOC122847298, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC129388933, LOC129388934, LOC129388935, 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, LOC132088761, NR4A2, TRA-CGC3-1, TRG-GCC2-2, UPP2 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:155150555-176854100
- GRCh38:
- Chr2:154294042-175989372
| ABCB11, ACVR1, ACVR1C, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BAZ2B, BAZ2B-AS1, BBS5, CCDC148, CCDC148-AS1, CD302, CDCA7, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CIR1, COBLL1, CSRNP3, CYBRD1, CYTIP, DAPL1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DPP4, DPP4-DT, DYNC1I2, ERICH2, ERICH2-DT, ERMN, FAP, FASTKD1, FIGN, FLJ46875, G6PC2, GAD1, GALNT13, GALNT13-AS1, GALNT3, GALNT5, GCA, GCG, GORASP2, GPD2, GPR155, GPR155-DT, GRB14, HAT1, IFIH1, ITGA6, ITGA6-AS1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, KLHL23, KLHL41, LINC01124, LINC01305, LINC01806, LINC01876, LINC01960, LINC02478, LNPK, LOC100130256, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120624, LOC110120625, LOC110120626, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120677, LOC110120678, LOC110120701, LOC110120708, LOC110120710, LOC110120725, LOC110120730, LOC110120736, LOC110120790, LOC110120809, LOC110121120, LOC110121216, LOC110121242, LOC111413009, LOC111556122, LOC112806056, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC114827830, LOC115945201, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC120977014, LOC120977015, LOC121725105, LOC121725106, LOC121725107, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129934938, LOC129934939, LOC129934940, LOC129934941, LOC129934942, LOC129934943, LOC129934944, LOC129934945, LOC129934946, LOC129934947, LOC129934948, LOC129934949, LOC129934950, LOC129934951, LOC129934952, LOC129934953, LOC129934954, LOC129934955, LOC129934956, LOC129934957, LOC129934958, LOC129934959, LOC129934960, LOC129934961, LOC129934962, LOC129934963, LOC129934964, LOC129934965, LOC129934966, LOC129934967, LOC129934968, LOC129934969, LOC129934970, LOC129934971, LOC129934972, LOC129934973, LOC129934974, LOC129934975, LOC129934976, LOC129934977, LOC129934978, LOC129934979, LOC129934980, LOC129934981, LOC129934982, LOC129934983, LOC129934984, LOC129934985, LOC129934986, LOC129934987, LOC129934988, LOC129934989, LOC129934990, LOC129934991, LOC129934992, LOC129934993, LOC129934994, LOC129934995, LOC129934996, LOC129934997, LOC129934998, LOC129934999, LOC129935000, LOC129935001, LOC129935002, LOC129935003, LOC129935004, LOC129935005, LOC129935006, LOC129935007, LOC129935008, LOC129935009, LOC129935010, LOC129935011, LOC129935012, LOC129935013, LOC129935014, LOC129935015, LOC129935016, LOC129935017, LOC129935018, LOC129935019, LOC129935020, LOC129935021, LOC129935022, LOC129935023, LOC129935024, LOC129935025, LOC129935026, LOC129935027, LOC129935028, LOC129935029, LOC129935030, LOC129935031, LOC129935032, LOC129935033, LOC129935034, LOC129935035, LOC129935036, LOC129935037, LOC129935038, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC132088761, LOC132088762, LOC132088763, LOC132088764, LOC132088765, LOC132088766, LOC132088767, LOC132088768, LOC132088769, LOC132088770, LOC132088771, LOC132088772, LOC132088773, LOC132088774, LOC132088775, LOC132088776, LOC132088777, LOC132088778, LOC132088779, LOC132088780, LOC132088781, LOC132088782, LOC132088783, LOC132088784, LOC132088785, LOC132088786, LOC132088787, LOC132088788, LOC132088789, LOC132088790, LOC132088791, LOC132088792, LOC132088793, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LOC132090686, LOC132090687, LRP2, LY75, LY75-CD302, MAP3K20, MAP3K20-AS1, MARCHF7, METAP1D, METTL5, METTL8, MIR4774, MIR4785, MIR6888, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, NR4A2, OLA1, PDK1, PDK1-AS1, PHOSPHO2, PHOSPHO2-KLHL23, PKP4, PKP4-AS1, PLA2R1, PPIG, PSMD14, PSMD14-DT, RAPGEF4, RAPGEF4-AS1, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SLC25A12, SLC38A11, SLC4A10, SNORA70F, SNORD3K, SP3, SP5, SP9, SPC25, SSB, STK39, TANC1, TANK, TANK-AS1, TBR1, TLK1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UBR3, UPP2, WDSUB1, WIPF1, XIRP2, XIRP2-AS1 | | See cases | Pathogenic (Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:155223300-167905412
- 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:155363751-158667217
- GRCh38:
- Chr2:154507239-157810705
| ACVR1C, LOC129934963, LOC129934964, CYTIP, ERMN, LOC129934965, LOC129934966, FLJ46875, GALNT5, LOC129934967, LOC129934968, LOC129934969, LOC129934970, LOC129934971, LOC132088761, LOC126806387, LOC129388933, LOC129388934, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC122847298, LOC126806382, LOC126806383, LOC126806384, GPD2, KCNJ3, LOC126806385, LOC126806386, LINC01876, LOC110120673, LOC129388935, LOC129934938, ACVR1, LOC129934939, LOC129934940, LOC129934941, LOC129934942, LOC129934943, LOC129934944, LOC129934945, LOC129934946, LOC129934947, LOC129934948, LOC129934949, LOC129934950, LOC129934951, LOC129934952, LOC129934953, LOC129934954, LOC129934955, LOC129934956, LOC129934957, LOC129934958, LOC129934959, LOC129934960, LOC129934961, LOC129934962, NR4A2, TRA-CGC3-1, TRG-GCC2-2 | | Autism spectrum disorder | Likely pathogenic (Oct 12, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157332646
- GRCh38:
- Chr2:156476134
| GPD2 | T10M | Inborn genetic diseases | Uncertain significance (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157352686
- GRCh38:
- Chr2:156496174
| GPD2 | G78E | not provided | Uncertain significance (Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157352707
- GRCh38:
- Chr2:156496195
| GPD2 | A85V | Inborn genetic diseases | Uncertain significance (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157367336
- GRCh38:
- Chr2:156510824
| GPD2 | D101E | Inborn genetic diseases | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157367396
- GRCh38:
- Chr2:156510884
| GPD2 | | not provided | Likely benign (Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157368740
- GRCh38:
- Chr2:156512228
| GPD2 | M136I | Inborn genetic diseases | Uncertain significance (Jan 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157369961
- GRCh38:
- Chr2:156513449
| GPD2 | P205L | not provided | Uncertain significance (Sep 19, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:157369963
- GRCh38:
- Chr2:156513451
| GPD2 | M206V | Inborn genetic diseases | Uncertain significance (Apr 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157369979
- GRCh38:
- Chr2:156513467
| GPD2 | K211R | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157406130
- GRCh38:
- Chr2:156549618
| GPD2 | N224K | Inborn genetic diseases | Uncertain significance (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157406131
- GRCh38:
- Chr2:156549619
| GPD2 | D225N | Inborn genetic diseases | Uncertain significance (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157406225
- GRCh38:
- Chr2:156549713
| GPD2 | T256I | Inborn genetic diseases | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157407139
- GRCh38:
- Chr2:156550627
| GPD2 | | not specified | Likely benign (Apr 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157407168
- GRCh38:
- Chr2:156550656
| GPD2 | T294R | Inborn genetic diseases | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157407179
- GRCh38:
- Chr2:156550667
| GPD2 | R298C | Inborn genetic diseases | Uncertain significance (Mar 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157407180
- GRCh38:
- Chr2:156550668
| GPD2 | R298H | Inborn genetic diseases | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157407200
- GRCh38:
- Chr2:156550688
| GPD2 | A305T | Inborn genetic diseases | Uncertain significance (May 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157407209
- GRCh38:
- Chr2:156550697
| GPD2 | I308V | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157407210
- GRCh38:
- Chr2:156550698
| GPD2 | I308N | Inborn genetic diseases | Uncertain significance (Aug 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157414047
- GRCh38:
- Chr2:156557535
| GPD2 | N373S | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157425342
- GRCh38:
- Chr2:156568830
| GPD2 | R391G | Inborn genetic diseases | Uncertain significance (Apr 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157425411
- GRCh38:
- Chr2:156568899
| GPD2 | Q414E | Inborn genetic diseases | Uncertain significance (Dec 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157425417
- GRCh38:
- Chr2:156568905
| GPD2 | I416V | Inborn genetic diseases | Uncertain significance (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157426009
- GRCh38:
- Chr2:156569497
| GPD2 | L479I | Inborn genetic diseases | Uncertain significance (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157426026
- GRCh38:
- Chr2:156569514
| GPD2 | | not provided | Likely benign (Jun 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157426048
- GRCh38:
- Chr2:156569536
| GPD2 | E492K | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157426655
- GRCh38:
- Chr2:156570143
| GPD2 | M511I | Inborn genetic diseases | Uncertain significance (Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157426656
- GRCh38:
- Chr2:156570144
| GPD2 | A512S | Inborn genetic diseases | Uncertain significance (Aug 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157427682
- GRCh38:
- Chr2:156571170
| GPD2 | V549M | Inborn genetic diseases | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157427706
- GRCh38:
- Chr2:156571194
| GPD2 | R557C | Inborn genetic diseases | Uncertain significance (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157435439
- GRCh38:
- Chr2:156578927
| GPD2 | E602D | Inborn genetic diseases | Uncertain significance (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157435479
- GRCh38:
- Chr2:156578967
| GPD2 | S616P | Inborn genetic diseases | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157435621
- GRCh38:
- Chr2:156579109
| GPD2 | F635S | Type II diabetes mellitus | Pathogenic (Feb 24, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr2:157439331
- GRCh38:
- Chr2:156582819
| GPD2 | R695S | Inborn genetic diseases | Uncertain significance (Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:157439392
- GRCh38:
- Chr2:156582880
| GPD2 | V716I | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr2:156996368-157372032
| GPD2, NR4A2 | | not provided | Likely pathogenic (Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:156528912-158233672
| ERMN, GALNT5, GPD2, NR4A2 | | not provided | Uncertain significance (Jan 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:1-243199373
| ABCA12, ABCB11, ABCB6, ANKAR, ANKMY1, ANKRD23, BIRC6, BMP10, CCL20, CCNT2, CLIP4, CLK1, CYP27A1, CYP27C1, CYRIA, DYNC2LI1, DYSF, DYTN, FAM124B, GALM, GALNT13, HES6, HIBCH, IL36G, IL36RN, KLF11, KLF7, MAIP1, MAL, MOB4, MOGAT1, NDUFS1, NEB, PAIP2B, PAPOLG, POU3F3, PPIG, PPIL3, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPM1B, PPM1G, PDE11A, PDE1A, PDE6D, PDIA6, PARD3B, PASK, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NFE2L2, NFU1, NEU2, NEU4, NEUROD1, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PCGF1, PCYOX1, MOGS, MRPL53, MRPS5, MRPS9, MSGN1, MPP4, MPV17, MRPL30, MRPL33, MORN2, MPHOSPH10, MREG, MROH2A, MRPL19, MRPL35, MRPL44, PDCD1, PDCL3, NEMP2, NGEF, MALL, MAP2, MARCHF7, MARCO, MARS2, MAT2A, MCM6, MAP3K20, MAP3K19, MAP3K2, MAP4K3, MAP4K4, MAPRE3, MARCHF4, KLHL23, KLHL29, KLHL30, LAPTM4A, LBH, LBX2, LCLAT1, INPP1, INPP4A, ING5, INHA, INHBB, INO80B, LCT, LDAH, LGALSL, LHCGR, KLHL41, KRCC1, KRTCAP3, KYNU, HJURP, HOXD11, HOXD12, HPCAL1, HS1BP3, HS6ST1, HSPD1, HNRNPA3, HK2, HNMT, HNRNPLL, HOXD1, HOXD10, LANCL1, IL37, ILKAP, INO80D, IMMT, IMP4, GALNT14, GALNT3, GDF7, GEMIN6, GKN2, GLB1L, GPAT2, GPATCH11, FAM168B, FAM171B, GALNT5, FAM178B, FAM228A, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, INSIG2, IQCA1, FAM136A, FAM161A, FAM228B, FAM98A, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, CYS1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, COPS7B, COPS8, CNGA3, CNNM3, CNNM4, CNOT11, DES, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, CMKLR2, CMPK2, CDC42EP3, CDCA7, CDKL4, CDRT15P3, CCT7, CD207, CD8A, CD8B, CDK15, CDK5R2, CD28, CNOT9, CNPPD1, CNRIP1, CNTNAP5, C2orf76, C2orf78, C2orf80, C2orf81, C2orf68, C2orf69, C2orf72, C2orf73, C2orf74, COA5, COBLL1, COLEC11, COMMD1, CCNYL1, CCT4, WIPF1, XIRP2, XPO1, XRCC5, WNT10A, WNT6, XDH, YIPF4, YPEL5, YWHAQ, C2orf15, C1D, C1QL2, C2CD6, ANTXR1, ANXA4, AOX1, AP1S3, APLF, ARPC2, ASAP2, ANKRD39, ANKRD44, ANKRD53, ANKRD36, ANKRD36B, ANKRD36C, ANKZF1, ANO7, ACKR3, ACMSD, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACTR2, ABCG5, ABCG8, ABHD1, ABI2, ACADL, AAK1, AAMP, ACTR3, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZNF512, ZEB2, ZFAND2B, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2, CD302, C2orf66, C2orf27A, C2orf42, C2orf48, C2orf49, C2orf50, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIMIP2C, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATA31H1, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPMIP9, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, TSN, TSPYL6, TTC21B, TTC27, TTC31, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1 | | Mosaic trisomy 2 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:154852961-159126250
| ACVR1, ACVR1C, CCDC148, CYTIP, ERMN, GALNT13, GALNT5, GPD2, KCNJ3, NR4A2, UPP2 | | not provided | Pathogenic (Apr 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:154328530-158759642
| ACVR1, ACVR1C, CYTIP, ERMN, GALNT13, GALNT5, GPD2, KCNJ3, NR4A2, RPRM | | not provided | Pathogenic (Apr 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:152967964-160089210
| ACVR1, ACVR1C, ARL6IP6, CCDC148, CYTIP, DAPL1, ERMN, FMNL2, GALNT13, GALNT5, GPD2, KCNJ3, NR4A2, PKP4, PRPF40A, RPRM, STAM2, TANC1, UPP2 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr2:156696086-159450561
| ACVR1C, GALNT5, ACVR1, GPD2, UPP2, CYTIP, NR4A2, ERMN, CCDC148, PKP4 | | not provided | Likely pathogenic (Aug 29, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:157170397-157846289
| GPD2, NR4A2 | | not provided | Uncertain significance (Jul 17, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:157117939-158422574
| GALNT5, CYTIP, ERMN, ACVR1C, NR4A2, GPD2 | | not provided | Likely pathogenic (Apr 6, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:147173792-158346266
| ARL6IP6, CACNB4, CYTIP, EPC2, ACVR2A, ARL5A, ERMN, FMNL2, GALNT13, GALNT5, GPD2, KCNJ3, LYPD6, LYPD6B, MBD5, MMADHC, NEB, NMI, NR4A2, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TNFAIP6 | | not provided | Pathogenic (Apr 12, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:156773914-157954702
| GPD2, NR4A2 | | not provided | Uncertain significance (Apr 24, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr2:156976385-157350281
| GPD2, NR4A2 | | not provided | Uncertain significance (Jul 12, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:157124370-157470128
| GPD2, NR4A2 | | not provided | Uncertain significance (May 3, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr2:15672-243101834
| ZEB2, ZFAND2B, ZFP36L2, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAIP2B, PAPOLG, PARD3B, PASK, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PCGF1, PCYOX1, PDCD1, PDCL3, PDE11A, PDE1A, PDE6D, PDIA6, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPIG, PPIL3, PPM1B, PPM1G, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATA31H1, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPMIP9, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, TSN, TSPYL6, TTC21B, TTC27, TTC31, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XDH, XIRP2, XPO1, XRCC5, YIPF4, YPEL5, YWHAQ, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZNF142, ZNF2, ZNF385B, ZNF512, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2, AAK1, AAMP, ABCA12, ABCB11, ABCB6, ABCG5, ABCG8, ABHD1, ABI2, ACADL, ACKR3, ACMSD, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACTR2, ACTR3, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, ANKAR, ANKMY1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD44, ANKRD53, ANKZF1, ANO7, ANTXR1, ANXA4, AOX1, AP1S3, APLF, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ARPC2, ASAP2, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BIRC6, BMP10, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, C1D, C1QL2, C2CD6, C2orf15, C2orf27A, C2orf42, C2orf48, C2orf49, C2orf50, C2orf66, C2orf68, C2orf69, C2orf72, C2orf73, C2orf74, C2orf76, C2orf78, C2orf80, C2orf81, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCL20, CCNT2, CCNYL1, CCT4, CCT7, CD207, CD28, CD302, CD8A, CD8B, CDC42EP3, CDCA7, CDK15, CDK5R2, CDKL4, CDRT15P3, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIMIP2C, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CLIP4, CLK1, CMKLR2, CMPK2, CNGA3, CNNM3, CNNM4, CNOT11, CNOT9, CNPPD1, CNRIP1, CNTNAP5, COA5, COBLL1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COLEC11, COMMD1, COPS7B, COPS8, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GKN2, GLB1L, GPAT2, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPATCH11, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HTR2B, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MAIP1, MAL, MALL, MAP2, MAP3K19, MAP3K2, MAP3K20, MAP4K3, MAP4K4, MAPRE3, MARCHF4, MARCHF7, MARCO, MARS2, MAT2A, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MCM6, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MOB4, MOGAT1, MOGS, MORN2, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL33, MRPL35, MRPL44, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NDUFS1, NEB, NEMP2, NEU2, NEU4, NEUROD1, NFE2L2, NFU1, NGEF, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:14238-243048760
| AAK1, AAMP, ABCA12, ABCB11, ABCB6, ABCG5, ABCG8, ABHD1, ABI2, ACADL, ACKR3, ACMSD, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACTR2, ACTR3, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, ANKAR, ANKMY1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD44, ANKRD53, ANKZF1, ANO7, ANTXR1, ANXA4, AOX1, AP1S3, APLF, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ARPC2, ASAP2, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BIRC6, BMP10, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, C1D, C1QL2, C2CD6, C2orf15, C2orf27A, C2orf42, C2orf48, C2orf49, C2orf50, C2orf66, C2orf68, C2orf69, C2orf72, C2orf73, C2orf74, C2orf76, C2orf78, C2orf80, C2orf81, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCL20, CCNT2, CCNYL1, CCT4, CCT7, CD207, CD28, CD302, CD8A, CD8B, CDC42EP3, CDCA7, CDK15, CDK5R2, CDKL4, CDRT15P3, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIMIP2C, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CLIP4, CLK1, CMKLR2, CMPK2, CNGA3, CNNM3, CNNM4, CNOT11, CNOT9, CNPPD1, CNRIP1, CNTNAP5, COA5, COBLL1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COLEC11, COMMD1, COPS7B, COPS8, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GKN2, GLB1L, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPAT2, GPATCH11, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HTR2B, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MAIP1, MAL, MALL, MAP2, MAP3K19, MAP3K2, MAP3K20, MAP4K3, MAP4K4, MAPRE3, MARCHF4, MARCHF7, MARCO, MARS2, MAT2A, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MCM6, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MOB4, MOGAT1, MOGS, MORN2, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL33, MRPL35, MRPL44, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NDUFS1, NEB, NEMP2, NEU2, NEU4, NEUROD1, NFE2L2, NFU1, NGEF, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAIP2B, PAPOLG, PARD3B, PASK, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PCGF1, PCYOX1, PDCD1, PDCL3, PDE11A, PDE1A, PDE6D, PDIA6, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPIG, PPIL3, PPM1B, PPM1G, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATA31H1, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPMIP9, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, |