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Items: 63

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
GRCh37:
Chr2:154466227-159041637
GRCh38:
Chr2:153609714-158185125
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
6.
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
7.
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
8.
GRCh37:
Chr2:155363751-158667217
GRCh38:
Chr2:154507239-157810705
Autism spectrum disorderLikely pathogenic
(Oct 12, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr2:157332646
GRCh38:
Chr2:156476134
GPD2T10MInborn genetic diseasesUncertain significance
(Nov 9, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr2:157352686
GRCh38:
Chr2:156496174
GPD2G78Enot providedUncertain significance
(Apr 6, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr2:157352707
GRCh38:
Chr2:156496195
GPD2A85VInborn genetic diseasesUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:157367336
GRCh38:
Chr2:156510824
GPD2D101EInborn genetic diseasesUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:157367396
GRCh38:
Chr2:156510884
GPD2not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr2:157368740
GRCh38:
Chr2:156512228
GPD2M136IInborn genetic diseasesUncertain significance
(Jan 9, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr2:157369961
GRCh38:
Chr2:156513449
GPD2P205Lnot providedUncertain significance
(Sep 19, 2017)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr2:157369963
GRCh38:
Chr2:156513451
GPD2M206VInborn genetic diseasesUncertain significance
(Apr 12, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr2:157369979
GRCh38:
Chr2:156513467
GPD2K211RInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr2:157406130
GRCh38:
Chr2:156549618
GPD2N224KInborn genetic diseasesUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr2:157406131
GRCh38:
Chr2:156549619
GPD2D225NInborn genetic diseasesUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr2:157406225
GRCh38:
Chr2:156549713
GPD2T256IInborn genetic diseasesUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr2:157407139
GRCh38:
Chr2:156550627
GPD2not specifiedLikely benign
(Apr 1, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr2:157407168
GRCh38:
Chr2:156550656
GPD2T294RInborn genetic diseasesUncertain significance
(May 27, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:157407179
GRCh38:
Chr2:156550667
GPD2R298CInborn genetic diseasesUncertain significance
(Mar 13, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr2:157407180
GRCh38:
Chr2:156550668
GPD2R298HInborn genetic diseasesUncertain significance
(Nov 22, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr2:157407200
GRCh38:
Chr2:156550688
GPD2A305TInborn genetic diseasesUncertain significance
(May 8, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr2:157407209
GRCh38:
Chr2:156550697
GPD2I308Vnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr2:157407210
GRCh38:
Chr2:156550698
GPD2I308NInborn genetic diseasesUncertain significance
(Aug 5, 2023)
criteria provided, single submitter
28.
GRCh37:
Chr2:157414047
GRCh38:
Chr2:156557535
GPD2N373SInborn genetic diseasesUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr2:157425342
GRCh38:
Chr2:156568830
GPD2R391GInborn genetic diseasesUncertain significance
(Apr 5, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr2:157425411
GRCh38:
Chr2:156568899
GPD2Q414EInborn genetic diseasesUncertain significance
(Dec 20, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr2:157425417
GRCh38:
Chr2:156568905
GPD2I416VInborn genetic diseasesUncertain significance
(Aug 29, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:157426009
GRCh38:
Chr2:156569497
GPD2L479IInborn genetic diseasesUncertain significance
(Nov 9, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr2:157426026
GRCh38:
Chr2:156569514
GPD2not providedLikely benign
(Jun 15, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr2:157426048
GRCh38:
Chr2:156569536
GPD2E492KInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:157426655
GRCh38:
Chr2:156570143
GPD2M511IInborn genetic diseasesUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:157426656
GRCh38:
Chr2:156570144
GPD2A512SInborn genetic diseasesUncertain significance
(Aug 2, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr2:157427682
GRCh38:
Chr2:156571170
GPD2V549MInborn genetic diseasesUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr2:157427706
GRCh38:
Chr2:156571194
GPD2R557CInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr2:157435439
GRCh38:
Chr2:156578927
GPD2E602DInborn genetic diseasesUncertain significance
(Jun 18, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr2:157435479
GRCh38:
Chr2:156578967
GPD2S616PInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr2:157435621
GRCh38:
Chr2:156579109
GPD2F635SType II diabetes mellitusPathogenic
(Feb 24, 1997)
no assertion criteria provided
42.
GRCh37:
Chr2:157439331
GRCh38:
Chr2:156582819
GPD2R695SInborn genetic diseasesUncertain significance
(Apr 27, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr2:157439392
GRCh38:
Chr2:156582880
GPD2V716Inot providedUncertain significanceno assertion criteria provided
44.
GRCh37:
Chr2:156996368-157372032
GPD2, NR4A2not providedLikely pathogenic
(Jul 1, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr2:156528912-158233672
ERMN, GALNT5, GPD2, NR4A2not providedUncertain significance
(Jan 4, 2022)
criteria provided, single submitter
46.
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 2Pathogenicno assertion criteria provided
47.
GRCh37:
Chr2:154852961-159126250
not providedPathogenic
(Apr 1, 2021)
no assertion criteria provided
48.
GRCh37:
Chr2:154328530-158759642
ACVR1, ACVR1C, CYTIP, ERMN, GALNT13, GALNT5, GPD2, KCNJ3, NR4A2, RPRMnot providedPathogenic
(Apr 1, 2021)
no assertion criteria provided
49.
GRCh37:
Chr2:152967964-160089210
not providednot providedno assertion provided
50.
GRCh37:
Chr2:156696086-159450561
ACVR1C, GALNT5, ACVR1, GPD2, UPP2, CYTIP, NR4A2, ERMN, CCDC148, PKP4not providedLikely pathogenic
(Aug 29, 2019)
no assertion criteria provided
51.
GRCh37:
Chr2:157170397-157846289
GPD2, NR4A2not providedUncertain significance
(Jul 17, 2018)
no assertion criteria provided
52.
GRCh37:
Chr2:157117939-158422574
GALNT5, CYTIP, ERMN, ACVR1C, NR4A2, GPD2not providedLikely pathogenic
(Apr 6, 2019)
no assertion criteria provided
53.
GRCh37:
Chr2:147173792-158346266
not providedPathogenic
(Apr 12, 2019)
no assertion criteria provided
54.
GRCh37:
Chr2:156773914-157954702
GPD2, NR4A2not providedUncertain significance
(Apr 24, 2017)
no assertion criteria provided
55.
GRCh37:
Chr2:156976385-157350281
GPD2, NR4A2not providedUncertain significance
(Jul 12, 2018)
no assertion criteria provided
56.
GRCh37:
Chr2:157124370-157470128
GPD2, NR4A2not providedUncertain significance
(May 3, 2017)
no assertion criteria provided
57.
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 providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
58.
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,