| - GRCh38:
- Chr16:46385317-61223349
| SLC38A7, SLC6A2, SNORA46, SNORA50A, SNORD148, SNX20, SPMIP8, TENT4B, TOX3, TRL-CAG2-1, TRL-CAG2-2, USB1, VPS35, ZNF319, ZNF423, ABCC11, ABCC12, ADCY7, ADGRG1, ADGRG3, ADGRG5, AKTIP, AMFR, ARL2BP, BBS2, BRD7, C16orf78, C16orf87, CAPNS2, CASC16, CASC22, CBLN1, CCDC102A, CCDC113, CCL17, CCL22, CES1, CES5A, CETP, CFAP20, CHD9, CHD9NB, CIAPIN1, CNEP1R1, CNGB1, CNOT1, COQ9, CPNE2, CRNDE, CSNK2A2, CX3CL1, CYLD, CYLD-AS1, CYLD-AS2, DNAJA2, DNAJA2-DT, DOK4, DRC7, FTO, FTO-IT1, GINS3, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, GPT2, HEATR3, HEATR3-AS1, HERPUD1, HNRNPA1L3, IRX3, IRX5, IRX6, ITFG1, ITFG1-AS1, KATNB1, KIFC3, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02137, LINC02140, LINC02141, LINC02168, LINC02169, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LINC03064, LOC101927272, LOC101927480, LOC101927556, LOC102723373, LOC102725116, LOC105371240, LOC105371296, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120835, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC110121356, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121587546, LOC121587547, LOC121587548, LOC121847987, LOC121847988, LOC121847989, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC129390785, LOC129390786, LOC129390787, LOC129390788, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC129390795, LOC129390796, LOC129390797, LOC129390798, LOC130058916, LOC130058917, LOC130058918, LOC130058919, LOC130058920, LOC130058921, LOC130058922, LOC130058923, LOC130058924, LOC130058925, LOC130058926, LOC130058927, LOC130058928, LOC130058929, LOC130058930, LOC130058931, LOC130058932, LOC130058933, LOC130058934, LOC130058935, LOC130058936, LOC130058937, LOC130058938, LOC130058939, LOC130058940, LOC130058941, LOC130058942, LOC130058943, LOC130058944, LOC130058945, LOC130058946, LOC130058947, LOC130058948, LOC130058949, LOC130058950, LOC130058951, LOC130058952, LOC130058953, LOC130058954, LOC130058955, LOC130058956, LOC130058957, LOC130058958, LOC130058959, LOC130058960, LOC130058961, LOC130058962, LOC130058963, LOC130058964, LOC130058965, LOC130058966, LOC130058967, LOC130058968, LOC130058969, LOC130058970, LOC130058971, LOC130058972, LOC130058973, LOC130058974, LOC130058975, LOC130058976, LOC130058977, LOC130058978, LOC130058979, LOC130058980, LOC130058981, LOC130058982, LOC130058983, LOC130058984, LOC130058985, LOC130058986, LOC130058987, LOC130058988, LOC130058989, LOC130058990, LOC130058991, LOC130058992, LOC130058993, LOC130058994, LOC130058995, LOC130058996, LOC130058997, LOC130058998, LOC130058999, LOC130059000, LOC130059001, LOC130059002, LOC130059003, LOC130059004, LOC130059005, LOC130059006, LOC130059007, LOC130059008, LOC130059009, LOC130059010, LOC130059011, LOC130059012, LOC130059013, LOC130059014, LOC130059015, LOC130059016, LOC130059017, LOC130059018, LOC130059019, LOC130059020, LOC130059021, LOC130059022, LOC130059023, LOC130059024, LOC130059025, LOC130059026, LOC130059027, LOC130059028, LOC130059029, LOC130059030, LOC130059031, LOC130059032, LOC130059033, LOC130059034, LOC130059035, LOC130059036, LOC130059037, LOC130059038, LOC130059039, LOC130059040, LOC130059041, LOC130059042, LOC130059043, LOC130059044, LOC130059045, LOC130059046, LOC130059047, LOC130059048, LOC130059049, LOC130059050, LOC130059051, LOC130059052, LOC130059053, LOC130059054, LOC130059055, LOC130059056, LOC130059057, LOC130059058, LOC130059059, LOC130059060, LOC130059061, LOC130059062, LOC130059063, LOC130059064, LOC130059065, LOC130059066, LOC130059067, LOC130059068, LOC130059069, LOC130059070, LOC130059071, LOC130059072, LOC130059073, LOC130059074, LOC130059075, LOC130059076, LOC130059077, LOC130059078, LOC130059079, LOC130059080, LOC130059081, LOC130059082, LOC130059083, LOC130059084, LOC130059085, LOC130059086, LOC130059087, LOC130059088, LOC130059089, LOC130059090, LOC130059091, LOC130059092, LOC130059093, LOC130059094, LOC130059095, LOC130059096, LOC130059097, LOC130059098, LOC130059099, LOC130059100, LOC130059101, LOC130059102, LOC130059103, LOC130059104, LOC130059105, LOC130059106, LOC130059107, LOC130059108, LOC130059109, LOC130059110, LOC130059111, LOC130059112, LOC130059113, LOC130059114, LOC130059115, LOC130059116, LOC130059117, LOC130059118, LOC130059119, LOC130059120, LOC130059121, LOC130059122, LOC130059123, LOC130059124, LOC130059125, LOC130059126, LOC130059127, LOC130059128, LOC130059129, LOC130059130, LOC130059131, LOC130059132, LOC130059133, LOC130059134, LOC130059135, LOC130059136, LOC130059137, LOC130059138, LOC130059139, LOC130059140, LOC130059141, LOC130059142, LOC130059143, LOC130059144, LOC130059145, LOC130059146, LOC130059147, LOC130059148, LOC130059149, LOC132090379, LOC132090380, LOC132090381, LOC132090382, LOC132090383, LOC132090384, LOC132090385, LOC132090386, LOC132090387, LOC132090388, LOC132090389, LOC132090390, LOC388282, LONP2, LPCAT2, MIR138-2, MIR3181, MIR3935, MIR6771, MIR6772, MIR6863, MMP15, MMP2, MMP2-AS1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MYLK3, N4BP1, NDRG4, NETO2, NKD1, NLRC5, NOD2, NUDT21, NUP93, NUP93-DT, OGFOD1, ORC6, PHKB, PLLP, POLR2C, PRSS54, PSME3IP1, RBL2, RPGRIP1L, RSPRY1, SALL1, SETD6, SHCBP1, SIAH1, SLC12A3 | | not provided | Pathogenic (Jul 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46500741-52456082
- GRCh38:
- Chr16:46466829-52422170
| ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CASC22, CBLN1, CNEP1R1, CYLD, CYLD-AS1, CYLD-AS2, DNAJA2, DNAJA2-DT, GPT2, HEATR3, HEATR3-AS1, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LOC101927272, LOC105371240, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC129390785, LOC129390786, LOC129390787, LOC129390788, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC130058916, LOC130058917, LOC130058918, LOC130058919, LOC130058920, LOC130058921, LOC130058922, LOC130058923, LOC130058924, LOC130058925, LOC130058926, LOC130058927, LOC130058928, LOC130058929, LOC130058930, LOC130058931, LOC130058932, LOC130058933, LOC130058934, LOC130058935, LOC130058936, LOC130058937, LOC130058938, LOC130058939, LOC130058940, LOC130058941, LOC130058942, LOC130058943, LOC130058944, LOC130058945, LOC130058946, LOC130058947, LOC130058948, LOC130058949, LOC130058950, LOC130058951, LOC130058952, LOC130058953, LOC130058954, LOC130058955, LOC130058956, LOC130058957, LOC130058958, LOC130058959, LOC130058960, LOC130058961, LOC130058962, LOC130058963, LOC130058964, LOC130058965, LOC130058966, LOC130058967, LOC130058968, LOC130058969, LOC130058970, LOC130058971, LOC130058972, LOC130058973, LOC130058974, LOC130058975, LOC130058976, LOC130058977, LOC130058978, LOC130058979, LOC130058980, LOC130058981, LOC130058982, LOC130058983, LOC130058984, LOC130058985, LOC130058986, LOC130058987, LOC130058988, LOC130058989, LOC130058990, LOC130058991, LOC130058992, LOC130058993, LOC130058994, LOC130058995, LOC130058996, LOC130058997, LOC130058998, LOC130058999, LOC130059000, LOC130059001, LOC130059002, LOC130059003, LOC130059004, LOC130059005, LOC130059006, LOC130059007, LOC130059008, LOC130059009, LOC130059010, LOC130059011, LOC130059012, LOC130059013, LOC130059014, LOC130059015, LOC130059016, LOC130059017, LOC132090379, LOC132090380, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423 | | See cases | Pathogenic (Apr 8, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:46500741-52389705
- GRCh38:
- Chr16:46466829-52355793
| LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LOC101927272, LOC105371240, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC129390785, LOC129390786, LOC129390787, LOC129390788, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC130058916, LOC130058917, LOC130058918, LOC130058919, LOC130058920, LOC130058921, LOC130058922, LOC130058923, LOC130058924, LOC130058925, LOC130058926, LOC130058927, LOC130058928, LOC130058929, LOC130058930, LOC130058931, LOC130058932, LOC130058933, LOC130058934, LOC130058935, LOC130058936, LOC130058937, LOC130058938, LOC130058939, LOC130058940, LOC130058941, LOC130058942, LOC130058943, LOC130058944, LOC130058945, LOC130058946, LOC130058947, LOC130058948, LOC130058949, LOC130058950, LOC130058951, LOC130058952, LOC130058953, LOC130058954, LOC130058955, LOC130058956, LOC130058957, LOC130058958, LOC130058959, LOC130058960, LOC130058961, LOC130058962, LOC130058963, LOC130058964, LOC130058965, LOC130058966, LOC130058967, LOC130058968, LOC130058969, LOC130058970, LOC130058971, LOC130058972, LOC130058973, LOC130058974, LOC130058975, LOC130058976, LOC130058977, LOC130058978, LOC130058979, LOC130058980, LOC130058981, LOC130058982, LOC130058983, LOC130058984, LOC130058985, LOC130058986, LOC130058987, LOC130058988, LOC130058989, LOC130058990, LOC130058991, LOC130058992, LOC130058993, LOC130058994, LOC130058995, LOC130058996, LOC130058997, LOC130058998, LOC130058999, LOC130059000, LOC130059001, LOC130059002, LOC130059003, LOC130059004, LOC130059005, LOC130059006, LOC130059007, LOC130059008, LOC130059009, LOC130059010, LOC130059011, LOC130059012, LOC130059013, LOC130059014, LOC130059015, LOC130059016, LOC130059017, LOC132090379, LOC132090380, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423, ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CASC22, CBLN1, CNEP1R1, CYLD, CYLD-AS1, CYLD-AS2, DNAJA2, DNAJA2-DT, GPT2, HEATR3, HEATR3-AS1, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC00919, LINC01571, LINC02127 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:46500741-51707107
- GRCh38:
- Chr16:46466829-51673196
| ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CBLN1, CNEP1R1, CYLD, CYLD-AS1, CYLD-AS2, DNAJA2, DNAJA2-DT, GPT2, HEATR3, HEATR3-AS1, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02192, LOC101927272, LOC105371240, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC129390785, LOC129390786, LOC129390787, LOC129390788, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC130058916, LOC130058917, LOC130058918, LOC130058919, LOC130058920, LOC130058921, LOC130058922, LOC130058923, LOC130058924, LOC130058925, LOC130058926, LOC130058927, LOC130058928, LOC130058929, LOC130058930, LOC130058931, LOC130058932, LOC130058933, LOC130058934, LOC130058935, LOC130058936, LOC130058937, LOC130058938, LOC130058939, LOC130058940, LOC130058941, LOC130058942, LOC130058943, LOC130058944, LOC130058945, LOC130058946, LOC130058947, LOC130058948, LOC130058949, LOC130058950, LOC130058951, LOC130058952, LOC130058953, LOC130058954, LOC130058955, LOC130058956, LOC130058957, LOC130058958, LOC130058959, LOC130058960, LOC130058961, LOC130058962, LOC130058963, LOC130058964, LOC130058965, LOC130058966, LOC130058967, LOC130058968, LOC130058969, LOC130058970, LOC130058971, LOC130058972, LOC130058973, LOC130058974, LOC130058975, LOC130058976, LOC130058977, LOC130058978, LOC130058979, LOC130058980, LOC130058981, LOC130058982, LOC130058983, LOC130058984, LOC130058985, LOC130058986, LOC130058987, LOC130058988, LOC130058989, LOC130058990, LOC130058991, LOC130058992, LOC130058993, LOC130058994, LOC130058995, LOC130058996, LOC130058997, LOC130058998, LOC130058999, LOC130059000, LOC130059001, LOC130059002, LOC130059003, LOC130059004, LOC130059005, LOC130059006, LOC130059007, LOC130059008, LOC130059009, LOC130059010, LOC130059011, LOC130059012, LOC130059013, LOC130059014, LOC130059015, LOC130059016, LOC130059017, LOC132090379, LOC132090380, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46500741-51973216
- GRCh38:
- Chr16:46466829-51939304
| ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CBLN1, CNEP1R1, CYLD, CYLD-AS1, CYLD-AS2, DNAJA2, DNAJA2-DT, GPT2, HEATR3, HEATR3-AS1, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02192, LOC101927272, LOC105371240, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC129390785, LOC129390786, LOC129390787, LOC129390788, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC130058916, LOC130058917, LOC130058918, LOC130058919, LOC130058920, LOC130058921, LOC130058922, LOC130058923, LOC130058924, LOC130058925, LOC130058926, LOC130058927, LOC130058928, LOC130058929, LOC130058930, LOC130058931, LOC130058932, LOC130058933, LOC130058934, LOC130058935, LOC130058936, LOC130058937, LOC130058938, LOC130058939, LOC130058940, LOC130058941, LOC130058942, LOC130058943, LOC130058944, LOC130058945, LOC130058946, LOC130058947, LOC130058948, LOC130058949, LOC130058950, LOC130058951, LOC130058952, LOC130058953, LOC130058954, LOC130058955, LOC130058956, LOC130058957, LOC130058958, LOC130058959, LOC130058960, LOC130058961, LOC130058962, LOC130058963, LOC130058964, LOC130058965, LOC130058966, LOC130058967, LOC130058968, LOC130058969, LOC130058970, LOC130058971, LOC130058972, LOC130058973, LOC130058974, LOC130058975, LOC130058976, LOC130058977, LOC130058978, LOC130058979, LOC130058980, LOC130058981, LOC130058982, LOC130058983, LOC130058984, LOC130058985, LOC130058986, LOC130058987, LOC130058988, LOC130058989, LOC130058990, LOC130058991, LOC130058992, LOC130058993, LOC130058994, LOC130058995, LOC130058996, LOC130058997, LOC130058998, LOC130058999, LOC130059000, LOC130059001, LOC130059002, LOC130059003, LOC130059004, LOC130059005, LOC130059006, LOC130059007, LOC130059008, LOC130059009, LOC130059010, LOC130059011, LOC130059012, LOC130059013, LOC130059014, LOC130059015, LOC130059016, LOC130059017, LOC132090379, LOC132090380, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46505432-52439868
- GRCh38:
- Chr16:46471520-52405956
| ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CASC22, CBLN1, CNEP1R1, CYLD, CYLD-AS1, CYLD-AS2, DNAJA2, DNAJA2-DT, GPT2, HEATR3, HEATR3-AS1, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LOC101927272, LOC105371240, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC129390785, LOC129390786, LOC129390787, LOC129390788, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC130058916, LOC130058917, LOC130058918, LOC130058919, LOC130058920, LOC130058921, LOC130058922, LOC130058923, LOC130058924, LOC130058925, LOC130058926, LOC130058927, LOC130058928, LOC130058929, LOC130058930, LOC130058931, LOC130058932, LOC130058933, LOC130058934, LOC130058935, LOC130058936, LOC130058937, LOC130058938, LOC130058939, LOC130058940, LOC130058941, LOC130058942, LOC130058943, LOC130058944, LOC130058945, LOC130058946, LOC130058947, LOC130058948, LOC130058949, LOC130058950, LOC130058951, LOC130058952, LOC130058953, LOC130058954, LOC130058955, LOC130058956, LOC130058957, LOC130058958, LOC130058959, LOC130058960, LOC130058961, LOC130058962, LOC130058963, LOC130058964, LOC130058965, LOC130058966, LOC130058967, LOC130058968, LOC130058969, LOC130058970, LOC130058971, LOC130058972, LOC130058973, LOC130058974, LOC130058975, LOC130058976, LOC130058977, LOC130058978, LOC130058979, LOC130058980, LOC130058981, LOC130058982, LOC130058983, LOC130058984, LOC130058985, LOC130058986, LOC130058987, LOC130058988, LOC130058989, LOC130058990, LOC130058991, LOC130058992, LOC130058993, LOC130058994, LOC130058995, LOC130058996, LOC130058997, LOC130058998, LOC130058999, LOC130059000, LOC130059001, LOC130059002, LOC130059003, LOC130059004, LOC130059005, LOC130059006, LOC130059007, LOC130059008, LOC130059009, LOC130059010, LOC130059011, LOC130059012, LOC130059013, LOC130059014, LOC130059015, LOC130059016, LOC130059017, LOC132090379, LOC132090380, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46918659
- GRCh38:
- Chr16:46884747
| GPT2 | G11V | Inborn genetic diseases | Uncertain significance (Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46918685
- GRCh38:
- Chr16:46884773
| GPT2 | W20fs | Glutamate pyruvate transaminase 2 deficiency | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr16:46918697
- GRCh38:
- Chr16:46884785
| GPT2 | Q24* | Inborn genetic diseases | Pathogenic (Nov 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46918721
- GRCh38:
- Chr16:46884809
| GPT2 | S32A | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46918808
- GRCh38:
- Chr16:46884896
| GPT2 | E61* | not provided | Pathogenic (Oct 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46918850-46918851
- GRCh38:
- Chr16:46884938-46884939
| GPT2 | | not provided | Uncertain significance (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46918859
- GRCh38:
- Chr16:46884947
| GPT2 | E78Q | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46931582
- GRCh38:
- Chr16:46897670
| GPT2 | E89G | Frequent falls, Delayed speech and language development, Intellectual disability, mild, Aggressive behavior | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr16:46931585
- GRCh38:
- Chr16:46897673
| GPT2 | V90fs | Rare genetic intellectual disability | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:46931590
- GRCh38:
- Chr16:46897678
| GPT2 | R92* | Glutamate pyruvate transaminase 2 deficiency | Likely pathogenic (Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46931602
- GRCh38:
- Chr16:46897690
| GPT2 | G96R | not provided, Intellectual disability | Conflicting interpretations of pathogenicity (Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:46931644
- GRCh38:
- Chr16:46897732
| GPT2 | R10W, R110W | Inborn genetic diseases, Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46931651
- GRCh38:
- Chr16:46897739
| GPT2 | | Glutamate pyruvate transaminase 2 deficiency | Likely pathogenic (May 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46934591
- GRCh38:
- Chr16:46900679
| GPT2 | | not provided | Likely benign (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46934603
- GRCh38:
- Chr16:46900691
| GPT2 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46934631
- GRCh38:
- Chr16:46900719
| GPT2 | S24T, S124T | Inborn genetic diseases, Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46934660
- GRCh38:
- Chr16:46900748
| GPT2 | R134C, R34C | Glutamate pyruvate transaminase 2 deficiency | Pathogenic (Nov 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:46934669
- GRCh38:
- Chr16:46900757
| GPT2 | R137W, R37W | Inborn genetic diseases | Uncertain significance (Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46934689
- GRCh38:
- Chr16:46900777
| GPT2 | | not provided | Benign (Oct 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46940770
- GRCh38:
- Chr16:46906858
| GPT2 | S153R, S53R | Inborn genetic diseases | Likely pathogenic (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46940779
- GRCh38:
- Chr16:46906867
| GPT2 | | not provided | Likely benign (Aug 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46940789
- GRCh38:
- Chr16:46906877
| GPT2 | R160C, R60C | Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (Aug 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46940798
- GRCh38:
- Chr16:46906886
| GPT2 | V163M, V63M | not provided, Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46940821
- GRCh38:
- Chr16:46906909
| GPT2 | | not provided | Benign (Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46940827
- GRCh38:
- Chr16:46906915
| GPT2 | | not provided | Likely benign (May 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46940856
- GRCh38:
- Chr16:46906944
| GPT2 | Y82F, Y182F | Inborn genetic diseases | Uncertain significance (Mar 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46943608
- GRCh38:
- Chr16:46909696
| GPT2 | I197V, I97V | Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (Dec 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46943649-46943650
- GRCh38:
- Chr16:46909737-46909738
| GPT2 | | not provided | Uncertain significance (Apr 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46943700
- GRCh38:
- Chr16:46909788
| GPT2 | | not provided | Benign (May 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46943745
- GRCh38:
- Chr16:46909833
| GPT2 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46943764
- GRCh38:
- Chr16:46909852
| GPT2 | R149W, R249W | Inborn genetic diseases | Uncertain significance (Mar 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46943794
- GRCh38:
- Chr16:46909882
| GPT2 | C259R, C159R | not provided | Uncertain significance (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46943831
- GRCh38:
- Chr16:46909919
| GPT2 | N271T, N171T | Glutamate pyruvate transaminase 2 deficiency | Pathogenic (Nov 5, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:46943834
- GRCh38:
- Chr16:46909922
| GPT2 | P272L, P172L | Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (Dec 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46950558
- GRCh38:
- Chr16:46916646
| GPT2 | K180R, K280R | Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46950563
- GRCh38:
- Chr16:46916651
| GPT2 | I182V, I282V | Neurodevelopmental disorder | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr16:46950601
- GRCh38:
- Chr16:46916689
| GPT2 | | not provided | Likely benign (Jun 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46950605
- GRCh38:
- Chr16:46916693
| GPT2 | L196F, L296F | Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46950625
- GRCh38:
- Chr16:46916713
| GPT2 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952547
- GRCh38:
- Chr16:46918635
| GPT2, LOC130058930 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952553-46952554
- GRCh38:
- Chr16:46918641-46918642
| GPT2, LOC130058930 | P209fs, P309fs | Glutamate pyruvate transaminase 2 deficiency | Likely pathogenic (May 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952607
- GRCh38:
- Chr16:46918695
| GPT2 | | not provided | Likely benign (Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952622
- GRCh38:
- Chr16:46918710
| GPT2 | N330K, N230K | Inborn genetic diseases | Uncertain significance (Jun 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952649
- GRCh38:
- Chr16:46918737
| GPT2 | | not provided | Benign (Dec 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952667
- GRCh38:
- Chr16:46918755
| GPT2 | | Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952668
- GRCh38:
- Chr16:46918756
| GPT2 | E246K, E346K | not provided | Uncertain significance (Feb 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952674
- GRCh38:
- Chr16:46918762
| GPT2 | | Inborn genetic diseases | Uncertain significance (Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46952674
- GRCh38:
- Chr16:46918762
| GPT2 | | not provided | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956199
- GRCh38:
- Chr16:46922287
| GPT2 | | not provided | Likely benign (Jul 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956229
- GRCh38:
- Chr16:46922317
| GPT2 | | not provided | Likely benign (Aug 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956236
- GRCh38:
- Chr16:46922324
| GPT2 | R374C, R274C | Glutamate pyruvate transaminase 2 deficiency | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956243-46956244
- GRCh38:
- Chr16:46922331-46922332
| GPT2 | V279fs, V379fs | not provided | Likely pathogenic (Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956250
- GRCh38:
- Chr16:46922338
| GPT2 | | not provided | Likely benign (Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956265
- GRCh38:
- Chr16:46922353
| GPT2 | | not provided | Likely benign (Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46956288
- GRCh38:
- Chr16:46922376
| GPT2 | P291L, P391L | Glutamate pyruvate transaminase 2 deficiency | Conflicting interpretations of pathogenicity (Mar 16, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr16:46956291-46956292
- GRCh38:
- Chr16:46922379-46922380
| GPT2 | V293fs, V393fs | Glutamate pyruvate transaminase 2 deficiency | Likely pathogenic (Apr 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:46956291
- GRCh38:
- Chr16:46922379
| GPT2 | P292L, P392L | not provided | Likely pathogenic (May 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956292
- GRCh38:
- Chr16:46922380
| GPT2 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956292
- GRCh38:
- Chr16:46922380
| GPT2 | | not provided | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46956314
- GRCh38:
- Chr16:46922402
| GPT2 | E400Q, E300Q | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956319
- GRCh38:
- Chr16:46922407
| GPT2 | | not provided | Likely benign (Sep 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46956326
- GRCh38:
- Chr16:46922414
| GPT2 | R404*, R304* | not provided | Pathogenic (Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46958298
- GRCh38:
- Chr16:46924386
| GPT2 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr16:46958310
- GRCh38:
- Chr16:46924398
| GPT2 | S308P, S408P | Inborn genetic diseases | Uncertain significance (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46958311
- GRCh38:
- Chr16:46924399
| GPT2 | S308L, S408L | Inborn genetic diseases | Uncertain significance (Dec 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46958348
- GRCh38:
- Chr16:46924436
| GPT2 | | not provided | Benign/Likely benign (Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46958352
- GRCh38:
- Chr16:46924440
| GPT2 | D322Y, D422Y | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46958372
- GRCh38:
- Chr16:46924460
| GPT2 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46958442
- GRCh38:
- Chr16:46924530
| GPT2 | V352M, V452M | not provided | Likely benign (Oct 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46960834
- GRCh38:
- Chr16:46926922
| GPT2 | | Inborn genetic diseases | Uncertain significance (Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46960881
- GRCh38:
- Chr16:46926969
| GPT2 | | not provided | Likely benign (Nov 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46960890-46960891
- GRCh38:
- Chr16:46926978-46926979
| GPT2 | G375fs, G475fs | GPT2-related condition | Likely pathogenic (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46960897-46960898
- GRCh38:
- Chr16:46926985-46926986
| GPT2 | V378fs, V478fs | Glutamate pyruvate transaminase 2 deficiency | Pathogenic (Nov 5, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:46960902
- GRCh38:
- Chr16:46926990
| GPT2 | | not provided | Likely benign (Nov 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46960903
- GRCh38:
- Chr16:46926991
| GPT2 | V479M, V379M | Glutamate pyruvate transaminase 2 deficiency | Pathogenic (Nov 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:46960909
- GRCh38:
- Chr16:46926997
| GPT2 | G381S, G481S | Hereditary spastic paraplegia 73, Glutamate pyruvate transaminase 2 deficiency | Conflicting interpretations of pathogenicity (Aug 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:46960952
- GRCh38:
- Chr16:46927040
| GPT2 | | Glutamate pyruvate transaminase 2 deficiency | Uncertain significance (May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46962813
- GRCh38:
- Chr16:46928901
| GPT2 | | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46962854
- GRCh38:
- Chr16:46928942
| GPT2 | T506M, T406M | Inborn genetic diseases | Uncertain significance (Jul 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46962905
- GRCh38:
- Chr16:46928993
| GPT2 | A423V, A523V | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46940888-46965210
| GPT2 | | not specified | Uncertain significance (Jun 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46694384-48258199
| ABCC11, ABCC12, C16orf87, DNAJA2, GPT2, ITFG1, MYLK3, NETO2, ORC6, PHKB, VPS35 | | Glycogen storage disease IXb | Uncertain significance (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46503573-62203182
| HERPUD1, IRX3, IRX5, ITFG1, KATNB1, KIFC3, IRX6, ABCC11, ABCC12, ADCY7, ADGRG1, ADGRG3, ADGRG5, AKTIP, AMFR, ARL2BP, BBS2, BRD7, C16orf78, C16orf87, CAPNS2, CBLN1, CCDC102A, CCDC113, CCL17, CCL22, CDH8, CES1, CES5A, CETP, CFAP20, CHD9, CIAPIN1, CNEP1R1, CNGB1, CNOT1, COQ9, CPNE2, CSNK2A2, CX3CL1, CYLD, DNAJA2, DOK4, DRC7, FTO, GINS3, GNAO1, GOT2, GPT2, HEATR3, LINC02911, LONP2, LPCAT2, MIR138-2, MMP15, MMP2, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MYLK3, N4BP1, NDRG4, NETO2, NKD1, NLRC5, NOD2, NUDT21, NUP93, OGFOD1, ORC6, PHKB, PLLP, POLR2C, PRSS54, PSME3IP1, RBL2, RPGRIP1L, RSPRY1, SALL1, SETD6, SHCBP1, SIAH1, SLC12A3, SLC38A7, SLC6A2, SNX20, TENT4B, TEPP, TOX3, USB1, VPS35, ZNF319, ZNF423 | | not provided | Pathogenic (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:46503968-90155062
| SYCE1L, TAF1C, TANGO6, TAT, TCF25, TENT4B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CLEC18C, TEPP, TERB1, THAP11, TK2, TRADD, TRAPPC2L, TMED6, TMEM170A, TERF2, TERF2IP, TOX3, TPPP3, TMEM208, TMEM231, PHKB, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PLLP, PMFBP1, POLR2C, PRDM7, PRMT7, PRSS54, PSKH1, PSMB10, PSMD7, PSME3IP1, RANBP10, RBL2, RFWD3, RIPOR1, RNF166, RPGRIP1L, RPL13, RRAD, RSPRY1, SALL1, SDR42E1, SETD6, SF3B3, SHCBP1, SIAH1, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNTB2, SNX20, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, TSNAXIP1, TUBB3, TXNL4B, USB1, USP10, UTP4, VAC14, VAT1L, VPS35, VPS4A, VPS9D1, WDR59, WFDC1, WWOX, WWP2, ZC3H18, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZNF19, ZNF23, ZNF276, ZNF319, ZNF423, ZNF469, ZNF778, ZNF821, ZNRF1, AARS1, ABCC11, ABCC12, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, ADCY7, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ANKRD11, AP1G1, APRT, ARL2BP, ATMIN, ATP2C2, ATP6V0D1, ATXN1L, B3GNT9, BANP, BBS2, BCAR1, BCO1, BEAN1, BRD7, C16orf46, C16orf47, C16orf74, C16orf78, C16orf86, C16orf87, C16orf95, CA5A, CA7, CALB2, CAPNS2, CARMIL2, CBFA2T3, CBFB, CBLN1, CCDC102A, CCDC113, CCL17, CCL22, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDK10, CDT1, CDYL2, CENPBD1, CENPN, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CFDP1, CHD9, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIAPIN1, CIBAR2, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG8, COQ9, COTL1, COX4I1, CPNE2, CPNE7, CRISPLD2, CSNK2A2, CTCF, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, CYLD, DBNDD1, DDX19A, DDX19B, DDX28, DEF8, DHODH, DHX38, DNAAF1, DNAJA2, DOK4, DPEP1, DPEP2, DPEP3, DRC7, DUS2, DYNC1LI2, DYNLRB2, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FOXC2, FOXF1, FOXL1, FTO, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GINS3, GLG1, GNAO1, GOT2, GPT2, GSE1, HAS3, HEATR3, HERPUD1, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IRX3, IRX5, IRX6, IST1, ITFG1, JPH3, KARS1, KATNB1, KCNG4, KCTD19, KIAA0513, KIFC3, KLHDC4, KLHL36, LCAT, LDHD, LINC01082, LINC02911, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, MAF, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MC1R, MEAK7, MIR138-2, MIR140, MIR328, MLKL, MLYCD, MMP15, MMP2, MON1B, MPHOSPH6, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTSS2, MVD, MYLK3, N4BP1, NAE1, NDRG4, NECAB2, NETO2, NFAT5, NFATC3, NIP7, NKD1, NLRC5, NOB1, NOD2, NOL3, NPIPB15, NQO1, NRN1L, NUDT21, NUDT7, NUP93, NUTF2, OGFOD1, ORC6, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1 | | not provided | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:46503328-47004071
| C16orf87, DNAJA2, GPT2, MYLK3, ORC6, SHCBP1, VPS35 | | not provided | Uncertain significance (Jul 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:46503968-47312075
| ITFG1, SHCBP1, DNAJA2, ORC6, NETO2, MYLK3, VPS35, GPT2, C16orf87 | | not provided | Uncertain significance (Dec 9, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:46503572-47114342
| VPS35, GPT2, C16orf87, ORC6, MYLK3, DNAJA2, SHCBP1 | | not provided | Uncertain significance (Oct 7, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:46467497-47004071
| C16orf87, ORC6, MYLK3, DNAJA2, SHCBP1, VPS35, GPT2 | | not provided | Uncertain significance (Jul 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:46531203-47074235
| ORC6, GPT2, MYLK3, SHCBP1, VPS35, DNAJA2, C16orf87 | | not provided | Benign (Dec 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:46499176-47003285
| SHCBP1, DNAJA2, MYLK3, C16orf87, ORC6, VPS35, GPT2 | | not provided | Benign (Aug 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:88165-90274695
| ANKS4B, ANTKMT, AP1G1, BOLA2, CCDC78, CCL17, CLCN7, CLDN6, CLDN9, CPNE7, DUS2, DYNC1LI2, FBXO31, HBA2, HBM, HBQ1, HBZ, HCFC1R1, GDE1, GDPD3, GFER, GFOD2, GALNS, GAN, FLYWCH1, FLYWCH2, DYNLRB2, E2F4, E4F1, EARS2, ECI1, EDC4, EEF2KMT, EIF3C, EIF3CL, ELMO3, ELOB, EEF2K, FCSK, FENDRR, FHOD1, GABARAPL2, GAS8, GAS8-AS1, GCSH, CPPED1, CRAMP1, CTRB1, CLEC3A, CLN3, CLUAP1, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, DDX19B, DDX28, CES5A, CETP, CTF1, CLEC16A, CLEC18A, CLEC18B, CLEC18C, CLEC19A, CCL22, CCNF, CCNYL3, CCP110, C16orf82, C16orf86, C16orf87, C16orf89, BRICD5, C16orf74, C16orf78, C16orf90, C16orf92, CD2BP2, CDH5, CDIP1, CD19, APRT, AQP8, ARHGAP17, ARHGDIG, ARL2BP, ARL6IP1, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ARMC5, APOBR, BOLA2B, BRD7, C16orf95, CDH8, ABCC6, C16orf46, C16orf54, AARS1, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ADGRG1, ADGRG3, ADGRG5, AGRP, AHSP, AKTIP, ALDOA, ALG1, AMDHD2, AMFR, ANKRD11, ANKS3, ATP6V0C, ATP6V0D1, ATXN1L, ATXN2L, AXIN1, B3GNT9, BAIAP3, BANP, BBS2, BCAR1, BCAR4, BCKDK, BCL7C, BCO1, BEAN1, BFAR, BICDL2, BMERB1, C16orf96, C1QTNF8, CA5A, CA7, CACNA1H, CACNG3, CALB2, CAPN15, CAPNS2, CARHSP1, CARMIL2, CASKIN1, CBFA2T3, CBFB, CBLN1, CCDC102A, CCDC113, CCDC154, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDIPT, CDK10, CDR2, CDT1, CDYL2, CEMP1, CENPBD1, CENPN, CENPT, CEP20, CES1, CES2, CES3, CES4A, CFAP119, CFAP20, CFDP1, CHD9, CHMP1A, CHP2, CHST4, CHST5, CHST6, CHTF18, CHTF8, CIAO2B, CIAO3, CIAPIN1, CIBAR2, CIITA, CKLF, CKLF-CMTM1, CMTM4, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COG8, COQ7, COQ9, CORO1A, CORO7, CORO7-PAM16, COTL1, COX4I1, COX6A2, CPNE2, CREBBP, CRISPLD2, CRYM, CSNK2A2, CTCF, CYLD, DBNDD1, DCTN5, DCTPP1, DCUN1D3, DDX19A, DECR2, DEF8, DEXI, DHODH, DHX38, DNAAF1, DNAAF8, DNAH3, DNAJA2, DNAJA3, DNASE1, DNASE1L2, DOC2A, DOK4, DPEP1, DPEP2, DPEP3, DRC7, EMC8, EME2, EMP2, ENKD1, ERCC4, ERI2, ERN2, ESRP2, EXOC3L1, EXOSC6, FA2H, FAHD1, FAM234A, FANCA, FBRS, FBXL16, FBXL19, FBXL8, FOXC2, FOXF1, FOXL1, FTO, FUS, GGA2, GINS2, GINS3, GLG1, GLIS2, GLYR1, GNAO1, GNG13, GNPTG, GOT2, GP2, GPR139, GPRC5B, GPT2, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HAPSTR1, HAS3, HBA1, HEATR3, HERPUD1, HIRIP3, HMOX2, HP, HPR, HS3ST2, HS3ST4, HS3ST6, HSBP1, HSD11B2, HSD17B2, HSD3B7, HSDL1, HSF4, HYDIN, IFT140, IGFALS, IGSF6, IL17C, IL21R, IL27, IL32, IL34, IL4R, INO80E, IQCK, IRF8, IRX3, IRX5, IRX6, IST1, ITFG1, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JMJD8, JPH3, JPT2, KARS1, KAT8, KATNB1, KATNIP, KCNG4, KCTD13, KCTD19, KCTD5, KDM8, KIAA0513, KIF22, KIFC3, KLHDC4, KLHL36, KNOP1, KRBOX5, KREMEN2, LAT, LCAT, LCMT1, LDAF1, LDHD, LINC01082, LINC02911, LITAF, LMF1, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, LUC7L, LYRM1, MAF, MAP1LC3B, MAPK3, MAPK8IP3, MARF1, MARVELD3, MATCAP1, MAZ, MBTPS1, MC1R, MCRIP2, MEAK7, MEFV, MEIOB, METRN, METTL22, METTL26, METTL9, MGRN1, MIR1225, MIR138-2, MIR140, MIR193B, MIR328, MIR365A, MLKL, MLST8, MLYCD, MMP15, MMP2, MMP25, MON1B, MOSMO, MPG, MPHOSPH6, MPV17L, MRPL28, MRPS34, MRTFB, MSLN, MSRB1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTRNR2L4, MTSS2, MVD, MVP, MYH11, MYL11, MYLK3, N4BP1, NAA60, NAE1, NAGPA, NDE1, NDRG4, NDUFAB1, NDUFB10, NECAB2, NETO2, NFAT5, NFATC2IP, NFATC3, NHERF2, NHLRC4, NIP7, NKD1, NLRC3, NLRC5, NME3, NME4, NMRAL1, NOB1, NOD2, NOL3, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB15, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPRL3, NPW, NQO1, NRN1L, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUDT21, NUDT7, NUP93, NUPR1, NUTF2, OGFOD1, OR1F1, OR2C1, ORAI3, ORC6, OSGIN1, OTOA, PABPN1L, PAGR1, PALB2, PAM16, PAQR4, PARD6A, PARN, PDF, PDIA2, PDILT, PDP2, PDPK1, PDPR, PDXDC1, PDZD9, PGAP6, PGP, PHAF1, PHKB, PHKG2, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PKD1L3, PKMYT1, PLA2G10, PLA2G15, PLCG2, PLEKHG4, PLK1, PLLP, PMFBP1, PMM2, POLR2C, POLR3E, POLR3K, PPL, PPP4C, PRDM7, PRKCB, PRM1, PRM2, PRM3, PRMT7, PRR14, PRR25, PRR35, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, PRSS53, PRSS54, PRSS8, PSKH1, PSMB10, PSMD7, PSME3IP1, PTX4, PYCARD, PYDC1, QPRT, RAB11FIP3, RAB26, RAB40C, RABEP2, RANBP10, RBBP6, RBFOX1, RBL2, RFWD3, RGS11, RHBDF1, RHBDL1, RHOT2, RIPOR1, RMI2, RNF151, RNF166, RNF40, RNPS1, ROGDI, RPGRIP1L, RPL13, RPL3L, RPS15A, RPS2, RPUSD1, RRAD, RRN3, RSL1D1, RSPRY1, RUSF1, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E1, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SETD6, SEZ6L2, SF3B3, SGF29, SH2B1, SHCBP1, SHISA9, SIAH1, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC5A11, SLC5A2, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SLX1A, SLX1B, SLX4, SMG1, SMIM22, SMPD3, SNAI3, SNHG9, SNN, SNRNP25, SNTB2, SNX20, SNX29, SOCS1, SOX8, SPATA2L, SPATA33, SPG7, SPIRE2, SPMIP8, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, ST3GAL2, STUB1, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, SYCE1L, SYNGR3, SYT17, TAF1C, TANGO6, TAOK2, TAT, TBC1D10B, TBC1D24, TBL3, TBX6, TCF25, TEDC2, TEKT5, TELO2, TENT4B, TERB1, TERF2, TERF2IP, TFAP4, TGFB1I1, THAP11, THOC6, THUMPD1, TIGD7, TK2, TLCD3B, TMC5, TMC7, TMED6, TMEM114, TMEM170A, TMEM186, TMEM204, TMEM208, TMEM219, TMEM231, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TOX3, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TPPP3, TPSAB1, TPSB2, TPSD1, TPSG1, TRADD, TRAF7, TRAP1, TRAPPC2L, TRIM72, TSC2, TSNAXIP1, TSR3, TUBB3, TUFM, TVP23A, TXNDC11, TXNL4B, UBALD1, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCC4, UQCRC2, USB1, USP10, USP31, USP7, UTP4, VAC14, VASN, VAT1L, VKORC1, VPS35, VPS35L, VPS4A, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, YPEL3, ZC3H18, ZC3H7A, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF19, ZNF200, ZNF205, ZNF213, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF778, ZNF785, ZNF821, ZNF843, ZNRF1, ZP2, ZSCAN10, ZSCAN32 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr16:88165-90163275
| ATP6V0D1, ATXN1L, ATXN2L, CA7, CACNA1H, CETP, CFAP119, CFAP20, CNGB1, DNAJA2, DNAJA3, FENDRR, FHOD1, HBZ, HCFC1R1, HEATR3, ITGAM, LOC654780, LONP2, MIR365A, MLKL, MYL11, MYLK3, N4BP1, NPIPA5, PDIA2, PDILT, PPP4C, PRDM7, RFWD3, SEPTIN1, SEPTIN12, SPMIP8, THUMPD1, TSNAXIP1, TSR3, ZC3H18, ZC3H7A, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF778, ZNF821, ZNF843, ZNRF1, ZP2, ZSCAN10, ZG16, ZG16B, ZNF19, ZNF785, ZSCAN32, ZCCHC14, ZCCHC14-DT, ZFHX3, UMOD, UNKL, UQCC4, UQCRC2, USB1, USP10, USP31, USP7, UTP4, VAC14, UBN1, ZDHHC1, ZDHHC7, ZFP1, ZFP90, ZKSCAN2, ZNF174, TIGD7, TK2, TLCD3B, TMED6, TMEM114, TMEM170A, TMEM204, TMEM208, TMEM219, TMEM231, TNFRSF12A, TNFRSF17, TMC5, TMC7, TMEM186, ZFPM1, UBE2I, UBFD1, SPN, SPNS1, SPSB3, SULT1A1, SYCE1L, SYNGR3, SLC7A6OS, SLX1A, SLC5A11, SLC5A2, SLC6A2, SYT17, TAF1C, TANGO6, STX1B, STX4, SULT1A2, SULT1A3, SULT1A4, RHBDF1, RMI2, RNF151, RNF166, RNF40, RNPS1, ROGDI, RPGRIP1L, RHBDL1, RHOT2, RIPOR1, SLC22A31, SLC38A7, SLC9A5, SLC38A8, PRKCB, PRM1, PRR14, PRR25, PRR35, PRSS41, PRSS53, PHKB, PRM2, PRM3, PRMT7, SLC7A5, SLC7A6, RGS11, PDP2, PDZD9, PGAP6, PGP, NUDT21, NUDT7, NPIPB3, NPIPB4, NPIPB5, NPIPB6, PHAF1, PHKG2, PHLPP2, PIEZO1, PDPK1, PDPR, PDXDC1, NETO2, NFAT5, NDRG4, NDUFAB1, NDUFB10, NECAB2, NFATC2IP, NFATC3, NHERF2, NAGPA, NDE1, NPIPB15, NPRL3, NPW, NQO1, MLST8, MLYCD, MRTFB, MOSMO, MPG, MPHOSPH6, MPV17L, MMP2, MMP25, MON1B, MRPL28, MRPS34, NRN1L, NSMCE1, NAA60, NAE1, MAF, MAPK3, MAPK8IP3, MARF1, LPCAT2, LRRC29, LRRC36, LUC7L, LYRM1, KCNG4, KCTD13, KCTD19, KCTD5, KDM8, KIAA0513, KIF22, JMJD8, JPH3, MAP1LC3B, MARVELD3, HERPUD1, HIRIP3, HMOX2, MATCAP1, ITGAX, ITPRIPL2, HS3ST6, HSBP1, HSD11B2, HSF4, CFDP1, CHD9, HYDIN, CACNG3, CALB2, CAPN15, HS3ST2, HS3ST4, COQ9, CORO1A, JPT2, DPEP3, DRC7, AXIN1, B3GNT9, KATNB1, KATNIP, FLYWCH1, FLYWCH2, KARS1, KAT8, GCSH, ABCC6, ACSM5, ADAD2, ADAMTS18, BAIAP3, CAPNS2, CARHSP1, CHMP1A, CHP2, CHST4, CORO7, CORO7-PAM16, DUS2, DYNC1LI2, DYNLRB2, GABARAPL2, GDE1, GDPD3, GGA2, GINS2, GFER, GFOD2, GALNS, GAN, HP, HPR, EDC4, EEF2K, EEF2KMT, E2F4, E4F1, EIF3C, EIF3CL, ELMO3, ELOB, EMC8, EME2, HSD17B2, HSD3B7, COX6A2, CPNE2, CTF1, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CPNE7, CPPED1, COTL1, CRAMP1, HSDL1, CIAO2B, CIAO3, CIAPIN1, CIBAR2, CIITA, CKLF, CKLF-CMTM1, CLCN7, CHTF18, CHTF8, CHST5, CHST6, GAS8, GAS8-AS1, CD2BP2, CASKIN1, CBFA2T3, EARS2, ECI1, CARMIL2, COX4I1, CCL17, CCL22, CCNF, BEAN1, BCAR1, BCAR4, BCKDK, BFAR, BICDL2, BMERB1, BANP, BBS2, CCNYL3, BCL7C, BCO1, CCP110, CD19, AGRP, AHSP, ALG1, AMDHD2, AMFR, ANKRD11, ADCY7, ADCY9, ADGRG1, ADGRG3, ADGRG5, AKTIP, ALDOA, ADAT1, AARS1, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ANKS3, ANKS4B, ANTKMT, AP1G1, APOBR, APRT, AQP8, ARHGAP17, ARHGDIG, ARL2BP, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATP6V0C, BOLA2, BOLA2B, BRD7, BRICD5, C16orf46, C16orf54, C16orf74, C16orf78, C16orf82, C16orf86, C16orf87, C16orf89, C16orf90, C16orf92, C16orf95, C16orf96, C1QTNF8, CA5A, CBFB, CBLN1, CCDC102A, CCDC113, CCDC154, CCDC78, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDIP1, CDIPT, CDK10, CDR2, CDT1, CDYL2, CEMP1, CENPBD1, CENPN, CENPT, CEP20, CES1, CES2, CES3, CES4A, CES5A, CLDN6, CLDN9, CLEC16A, CLEC18A, CLEC18B, CLEC18C, CLEC19A, CLEC3A, CLN3, CLUAP1, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNEP1R1, CNOT1, CNTNAP4, COG4, COG7, COG8, COQ7, CREBBP, CRISPLD2, CRYM, CSNK2A2, CTCF, CYB5B, CYBA, CYLD, DBNDD1, DCTN5, DCTPP1, DCUN1D3, DDX19A, DDX19B, DDX28, DECR2, DEF8, DEXI, DHODH, DHX38, DNAAF1, DNAAF8, DNAH3, DNASE1, DNASE1L2, DOC2A, DOK4, DPEP1, DPEP2, EMP2, ENKD1, ERCC4, ERI2, ERN2, ESRP2, EXOC3L1, EXOSC6, FA2H, FAHD1, FAM234A, FANCA, FBRS, FBXL16, FBXL19, FBXL8, FBXO31, FCSK, FOXC2, FOXF1, FOXL1, FTO, FUS, GINS3, GLG1, GLIS2, GLYR1, GNAO1, GNG13, GNPTG, GOT2, GP2, GPR139, GPRC5B, GPT2, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HAPSTR1, HAS3, HBA1, HBA2, HBM, HBQ1, IFT140, IGFALS, IGSF6, IL17C, IL21R, IL27, IL32, IL34, IL4R, INO80E, IQCK, IRF8, IRX3, IRX5, IRX6, IST1, ITFG1, ITGAD, ITGAL, KIFC3, KLHDC4, KLHL36, KNOP1, KRBOX5, KREMEN2, LAT, LCAT, LCMT1, LDAF1, LDHD, LINC01082, LINC02911, LITAF, LMF1, LOC101927817, LOC101928417, LOC400541, MAZ, MBTPS1, MC1R, MCRIP2, MEAK7, MEFV, MEIOB, METRN, METTL22, METTL26, METTL9, MGRN1, MIR1225, MIR138-2, MIR140, MIR193B, MIR328, MMP15, MSLN, MSRB1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTRNR2L4, MTSS2, MVD, MVP, MYH11, NHLRC4, NIP7, NKD1, NLRC3, NLRC5, NME3, NME4, NMRAL1, NOB1, NOD2, NOL3, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUP93, NUPR1, NUTF2, OGFOD1, OR1F1, OR2C1, ORAI3, ORC6, OSGIN1, OTOA, PABPN1L, PAGR1, PALB2, PAM16, PAQR4, PARD6A, PARN, PDF, PIGQ, PKD1, PKD1L2, PKD1L3, PKMYT1, PLA2G10, PLA2G15, PLCG2, PLEKHG4, PLK1, PLLP, PMFBP1, PMM2, POLR2C, POLR3E, POLR3K, PPL, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS54, PRSS8, PSKH1, PSMB10, PSMD7, PSME3IP1, PTX4, PYCARD, PYDC1, QPRT, RAB11FIP3, RAB26, RAB40C, RABEP2, RANBP10, RBBP6, RBFOX1, RBL2, RPL13, RPL3L, RPS15A, RPS2, RPUSD1, RRAD, RRN3, RSL1D1, RSPRY1, RUSF1, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E1, SDR42E2, SEC14L5, SEPHS2, SETD1A, SETD6, SEZ6L2, SF3B3, SGF29, SH2B1, SHCBP1, SHISA9, SIAH1, SLC12A3, SLC12A4, SLX1B, SLX4, SMG1, SMIM22, SMPD3, SNAI3, SNHG9, SNN, SNRNP25, SNTB2, SNX20, SNX29, SOCS1, SOX8, SPATA2L, SPATA33, SPG7, SPIRE2, SRCAP, SRL, SRRM2, SSTR5, ST3GAL2, STUB1, TAOK2, TAT, TBC1D10B, TBC1D24, TBL3, TBX6, TCF25, TEDC2, TEKT5, TELO2, TENT4B, TERB1, TERF2, TERF2IP, TFAP4, TGFB1I1, THAP11, THOC6, TNP2, TNRC6A, TOX3, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TPPP3, TPSAB1, TPSB2, TPSD1, TPSG1, TRADD, TRAF7, TRAP1, TRAPPC2L, TRIM72, TSC2, TUBB3, TUFM, TVP23A, TXNDC11, TXNL4B, UBALD1, VASN, VAT1L, VKORC1, VPS35, VPS35L, VPS4A, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, YPEL3, ZNF200, ZNF205, ZNF213, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689 | | not provided | Pathogenic (Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:61451-90294632
| TPSAB1, TPSB2, YPEL3, ZC3H18, ZNRF1, ZP2, ZSCAN10, AHSP, BEAN1, CCDC102A, CHMP1A, CHP2, CHST4, CHST5, CHST6, CHTF18, CIBAR2, CIITA, CKLF, CKLF-CMTM1, CLCN7, CLDN6, CLDN9, CD19, CD2BP2, CHTF8, CIAO2B, CIAO3, CIAPIN1, CCDC113, BRICD5, C16orf46, C16orf54, C16orf74, C16orf78, C16orf82, C16orf86, C16orf87, C16orf89, BMERB1, BOLA2, CDIP1, CDIPT, CCDC154, CCDC78, CCNYL3, CCP110, CDH5, CDH8, CDK10, AKTIP, ALDOA, APRT, AQP8, ARHGAP17, ARHGDIG, ARL2BP, ARL6IP1, ARMC5, ASPHD1, ALG1, AMDHD2, AMFR, CCL17, CCL22, CCNF, BFAR, BICDL2, BOLA2B, BRD7, ABCC1, ABCC11, ABCC12, TRIM72, ZC3H7A, ZCCHC14, ZSCAN32, TVP23A, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFP1, ZFP90, ZFPM1, ZG16, ZNF19, ZNF200, ZG16B, ZKSCAN2, ZNF174, ZNF205, ZNF213, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF423, ZFHX3, UMOD, UNKL, UQCC4, UQCRC2, USB1, USP10, USP31, USP7, UTP4, UBALD1, UBE2I, TXNDC11, TXNL4B, UBFD1, UBN1, TMC5, TGFB1I1, THAP11, TLCD3B, TMC7, THOC6, THUMPD1, TIGD7, TK2, TENT4B, TERB1, TERF2, TERF2IP, TFAP4, TMED6, TMEM114, TMEM170A, TMEM186, TMEM204, TMEM208, TMEM219, TMEM231, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TOX3, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TPPP3, TPSD1, TPSG1, TRADD, TRAF7, TRAP1, TRAPPC2L, TSC2, TSNAXIP1, TSR3, TUBB3, TUFM, VAC14, VASN, VAT1L, VKORC1, VPS35, VPS35L, VPS4A, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF778, ZNF785, ZNF821, ZNF843, AARS1, ABAT, ABCA3, ABCC6, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ADGRG1, ADGRG3, ADGRG5, AGRP, ANKRD11, ANKS3, ANKS4B, ANTKMT, AP1G1, APOBR, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATP6V0C, ATP6V0D1, ATXN1L, ATXN2L, AXIN1, B3GNT9, BAIAP3, BANP, BBS2, BCAR1, BCAR4, BCKDK, BCL7C, BCO1, C16orf90, C16orf92, C16orf95, C16orf96, C1QTNF8, CA5A, CA7, CACNA1H, CACNG3, CALB2, CAPN15, CAPNS2, CARHSP1, CARMIL2, CASKIN1, CBFA2T3, CBFB, CBLN1, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDR2, CDT1, CDYL2, CEMP1, CENPBD1, CENPN, CENPT, CEP20, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP119, CFAP20, CFDP1, CHD9, CLEC16A, CLEC18A, CLEC18B, CLEC18C, CLEC19A, CLEC3A, CLN3, CLUAP1, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COG8, COQ7, COQ9, CORO1A, CORO7, CORO7-PAM16, COTL1, COX4I1, COX6A2, CPNE2, CPNE7, CPPED1, CRAMP1, CREBBP, CRISPLD2, CRYM, CSNK2A2, CTCF, CTF1, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, CYLD, DBNDD1, DCTN5, DCTPP1, DCUN1D3, DDX19A, DDX19B, DDX28, DECR2, DEF8, DEXI, DHODH, DHX38, DNAAF1, DNAAF8, DNAH3, DNAJA2, DNAJA3, DNASE1, DNASE1L2, DOC2A, DOK4, DPEP1, DPEP2, DPEP3, DRC7, DUS2, DYNC1LI2, DYNLRB2, E2F4, E4F1, EARS2, ECI1, EDC4, EEF2K, EEF2KMT, EIF3C, EIF3CL, ELMO3, ELOB, EMC8, EME2, EMP2, ENKD1, ERCC4, ERI2, ERN2, ESRP2, EXOC3L1, EXOSC6, FA2H, FAHD1, FAM234A, FANCA, FBRS, FBXL16, FBXL19, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLYWCH1, FLYWCH2, FOXC2, FOXF1, FOXL1, FTO, FUS, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GDE1, GDPD3, GFER, GFOD2, GGA2, GINS2, GINS3, GLG1, GLIS2, GLYR1, GNAO1, GNG13, GNPTG, GOT2, GP2, GPR139, GPRC5B, GPT2, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HAPSTR1, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HEATR3, HERPUD1, HIRIP3, HMOX2, HP, HPR, HS3ST2, HS3ST4, HS3ST6, HSBP1, HSD11B2, HSD17B2, HSD3B7, HSDL1, HSF4, HYDIN, IFT140, IGFALS, IGSF6, IL17C, IL21R, IL27, IL32, IL34, IL4R, INO80E, IQCK, IRF8, IRX3, IRX5, IRX6, IST1, ITFG1, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JMJD8, JPH3, JPT2, KARS1, KAT8, KATNB1, KATNIP, KCNG4, KCTD13, KCTD19, KCTD5, KDM8, KIAA0513, KIF22, KIFC3, KLHDC4, KLHL36, KNOP1, KRBOX5, KREMEN2, LAT, LCAT, LCMT1, LDAF1, LDHD, LINC01082, LINC02911, LITAF, LMF1, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, LUC7L, LYRM1, MAF, MAP1LC3B, MAPK3, MAPK8IP3, MARF1, MARVELD3, MATCAP1, MAZ, MBTPS1, MC1R, MCRIP2, MEAK7, MEFV, MEIOB, METRN, METTL22, METTL26, METTL9, MGRN1, MIR1225, MIR138-2, MIR140, MIR193B, MIR328, MIR365A, MLKL, MLST8, MLYCD, MMP15, MMP2, MMP25, MON1B, MOSMO, MPG, MPHOSPH6, MPV17L, MRPL28, MRPS34, MRTFB, MSLN, MSRB1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTRNR2L4, MTSS2, MVD, MVP, MYH11, MYL11, MYLK3, N4BP1, NAA60, NAE1, NAGPA, NDE1, NDRG4, NDUFAB1, NDUFB10, NECAB2, NETO2, NFAT5, NFATC2IP, NFATC3, NHERF2, NHLRC4, NIP7, NKD1, NLRC3, NLRC5, NME3, NME4, NMRAL1, NOB1, NOD2, NOL3, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB15, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPRL3, NPW, NQO1, NRN1L, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUDT21, NUDT7, NUP93, NUPR1, NUTF2, OGFOD1, OR1F1, OR2C1, ORAI3, ORC6, OSGIN1, OTOA, PABPN1L, PAGR1, PALB2, PAM16, PAQR4, PARD6A, PARN, PDF, PDIA2, PDILT, PDP2, PDPK1, PDPR, PDXDC1, PDZD9, PGAP6, PGP, PHAF1, PHKB, PHKG2, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PKD1L3, PKMYT1, PLA2G10, PLA2G15, PLCG2, PLEKHG4, PLK1, PLLP, PMFBP1, PMM2, POLR2C, POLR3E, POLR3K, PPL, PPP4C, PRDM7, PRKCB, PRM1, PRM2, PRM3, PRMT7, PRR14, PRR25, PRR35, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, PRSS53, PRSS54, PRSS8, PSKH1, PSMB10, PSMD7, PSME3IP1, PTX4, PYCARD, PYDC1, QPRT, RAB11FIP3, RAB26, RAB40C, RABEP2, RANBP10, RBBP6, RBFOX1, RBL2, RFWD3, RGS11, RHBDF1, RHBDL1, RHOT2, RIPOR1, RMI2, RNF151, RNF166, RNF40, RNPS1, ROGDI, RPGRIP1L, RPL13, RPL3L, RPS15A, RPS2, RPUSD1, RRAD, RRN3, RSL1D1, RSPRY1, RUSF1, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E1, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SETD6, SEZ6L2, SF3B3, SGF29, SH2B1, SHCBP1, SHISA9, SIAH1, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC5A11, SLC5A2, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SLX1A, SLX1B, SLX4, SMG1, SMIM22, SMPD3, SNAI3, SNHG9, SNN, SNRNP25, SNTB2, SNX20, SNX29, SOCS1, SOX8, SPATA2L, SPATA33, SPG7, SPIRE2, SPMIP8, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, ST3GAL2, STUB1, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, SYCE1L, SYNGR3, SYT17, TAF1C, TANGO6, TAOK2, TAT, TBC1D10B, TBC1D24, TBL3, TBX6, TCF25, TEDC2, TEKT5, TELO2 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:46455960-90354753
| AARS1, ABCC11, ABCC12, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, ADCY7, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ANKRD11, AP1G1, APRT, ARL2BP, ATMIN, ATP2C2, ATP6V0D1, ATXN1L, B3GNT9, BANP, BBS2, BCAR1, BCO1, BEAN1, BRD7, C16orf46, C16orf47, C16orf74, C16orf78, C16orf86, C16orf87, C16orf95, CA5A, CA7, CALB2, CAPNS2, CARMIL2, CBFA2T3, CBFB, CBLN1, CCDC102A, CCDC113, CCL17, CCL22, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDK10, CDT1, CDYL2, CENPBD1, CENPN, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CFDP1, CHD9, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIAPIN1, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG8, COQ9, COTL1, COX4I1, CPNE2, CPNE7, CRISPLD2, CSNK2A2, CTCF, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, CYLD, DBNDD1, DDX19A, DDX19B, DDX28, DEF8, DHODH, DHX38, DNAAF1, DNAJA2, DOK4, DPEP1, DPEP2, DPEP3, DRC7, DUS2, DYNC1LI2, DYNLRB2, E2F4, EDC4, ELMO3, FANCA, FHOD1, FBXO31, FENDRR, FA2H, FCSK, FBXL8, GALNS, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FOXC2, FOXF1, FOXL1, FTO, GABARAPL2, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GINS3, GLG1, GNAO1, GOT2, GPT2, GSE1, HAS3, HEATR3, HERPUD1, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IRX3, IRX5, IRX6, IST1, ITFG1, JPH3, KARS1, KATNB1, KCNG4, KCTD19, KIAA0513, KIFC3, KLHDC4, KLHL36, LCAT, LDHD, LINC01082, LINC02911, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, MAF, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MC1R, MEAK7, MIR138-2, MIR140, MIR328, MLKL, MLYCD, MMP15, MMP2, MON1B, MPHOSPH6, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTSS2, MVD, MYLK3, N4BP1, NAE1, NDRG4, NECAB2, NETO2, NFAT5, NFATC3, NIP7, NKD1, NLRC5, NOB1, NOD2, NOL3, NPIPB15, NQO1, NRN1L, NUDT21, NUDT7, NUP93, NUTF2, OGFOD1, ORC6, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHKB, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PLLP, PMFBP1, POLR2C, PRDM7, PRMT7, PRSS54, PSKH1, PSMB10, PSMD7, PSME3IP1, RANBP10, RBL2, RFWD3, RIPOR1, RNF166, RPGRIP1L, RPL13, RRAD, RSPRY1, SALL1, SDR42E1, SETD6, SF3B3, SHCBP1, SIAH1, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNTB2, SNX20, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TCF25, TENT4B, TEPP, TERB1, TERF2, TERF2IP, THAP11, TK2, TMED6, TMEM170A, TMEM208, TMEM231, TOX3, TPPP3, TRADD, TRAPPC2L, TSNAXIP1, TUBB3, TXNL4B, USB1, USP10, UTP4, VAC14, VAT1L, VPS35, VPS4A, VPS9D1, WDR59, WFDC1, WWOX, WWP2, ZC3H18, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZNF19, ZNF23, ZNF276, ZNF319, ZNF423, ZNF469, ZNF778, ZNF821, ZNRF1 | | Poly (ADP-Ribose) polymerase inhibitor response | drug response (Nov 27, 2017) | no assertion criteria provided |