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Items: 1 to 100 of 109

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 providedPathogenic
(Jul 17, 2020)
criteria provided, single submitter
2.
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 casesPathogenic
(Apr 8, 2011)
no assertion criteria provided
3.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr16:46918659
GRCh38:
Chr16:46884747
GPT2G11VInborn genetic diseasesUncertain significance
(Nov 1, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr16:46918685
GRCh38:
Chr16:46884773
GPT2W20fsGlutamate pyruvate transaminase 2 deficiencyLikely pathogeniccriteria provided, single submitter
9.
GRCh37:
Chr16:46918697
GRCh38:
Chr16:46884785
GPT2Q24*Inborn genetic diseasesPathogenic
(Nov 3, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr16:46918721
GRCh38:
Chr16:46884809
GPT2S32AInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr16:46918808
GRCh38:
Chr16:46884896
GPT2E61*not providedPathogenic
(Oct 13, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr16:46918850-46918851
GRCh38:
Chr16:46884938-46884939
GPT2not providedUncertain significance
(Jun 18, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr16:46918859
GRCh38:
Chr16:46884947
GPT2E78QInborn genetic diseasesUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr16:46931582
GRCh38:
Chr16:46897670
GPT2E89GFrequent falls, Delayed speech and language development, Intellectual disability, mild,
Aggressive behavior
Uncertain significanceno assertion criteria provided
15.
GRCh37:
Chr16:46931585
GRCh38:
Chr16:46897673
GPT2V90fsRare genetic intellectual disabilityLikely pathogenicno assertion criteria provided
16.
GRCh37:
Chr16:46931590
GRCh38:
Chr16:46897678
GPT2R92*Glutamate pyruvate transaminase 2 deficiencyLikely pathogenic
(Oct 8, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr16:46931602
GRCh38:
Chr16:46897690
GPT2G96Rnot provided, Intellectual disabilityConflicting interpretations of pathogenicity
(Sep 7, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr16:46931644
GRCh38:
Chr16:46897732
GPT2R10W, R110WInborn genetic diseases, Glutamate pyruvate transaminase 2 deficiencyUncertain significance
(Mar 31, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr16:46931651
GRCh38:
Chr16:46897739
GPT2Glutamate pyruvate transaminase 2 deficiencyLikely pathogenic
(May 17, 2023)
criteria provided, single submitter
20.
GRCh37:
Chr16:46934591
GRCh38:
Chr16:46900679
GPT2not providedLikely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:46934603
GRCh38:
Chr16:46900691
GPT2not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr16:46934631
GRCh38:
Chr16:46900719
GPT2S24T, S124TInborn genetic diseases, Glutamate pyruvate transaminase 2 deficiencyUncertain significance
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:46934660
GRCh38:
Chr16:46900748
GPT2R134C, R34CGlutamate pyruvate transaminase 2 deficiencyPathogenic
(Nov 7, 2020)
no assertion criteria provided
24.
GRCh37:
Chr16:46934669
GRCh38:
Chr16:46900757
GPT2R137W, R37WInborn genetic diseasesUncertain significance
(Nov 8, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr16:46934689
GRCh38:
Chr16:46900777
GPT2not providedBenign
(Oct 1, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr16:46940770
GRCh38:
Chr16:46906858
GPT2S153R, S53RInborn genetic diseasesLikely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr16:46940779
GRCh38:
Chr16:46906867
GPT2not providedLikely benign
(Aug 17, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr16:46940789
GRCh38:
Chr16:46906877
GPT2R160C, R60CGlutamate pyruvate transaminase 2 deficiencyUncertain significance
(Aug 6, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr16:46940798
GRCh38:
Chr16:46906886
GPT2V163M, V63Mnot provided, Glutamate pyruvate transaminase 2 deficiencyUncertain significance
(Oct 12, 2021)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr16:46940821
GRCh38:
Chr16:46906909
GPT2not providedBenign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr16:46940827
GRCh38:
Chr16:46906915
GPT2not providedLikely benign
(May 24, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr16:46940856
GRCh38:
Chr16:46906944
GPT2Y82F, Y182FInborn genetic diseasesUncertain significance
(Mar 2, 2023)
criteria provided, single submitter
33.
GRCh37:
Chr16:46943608
GRCh38:
Chr16:46909696
GPT2I197V, I97VGlutamate pyruvate transaminase 2 deficiencyUncertain significance
(Dec 6, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr16:46943649-46943650
GRCh38:
Chr16:46909737-46909738
GPT2not providedUncertain significance
(Apr 27, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr16:46943700
GRCh38:
Chr16:46909788
GPT2not providedBenign
(May 17, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr16:46943745
GRCh38:
Chr16:46909833
GPT2not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr16:46943764
GRCh38:
Chr16:46909852
GPT2R149W, R249WInborn genetic diseasesUncertain significance
(Mar 20, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr16:46943794
GRCh38:
Chr16:46909882
GPT2C259R, C159Rnot providedUncertain significance
(Jun 18, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr16:46943831
GRCh38:
Chr16:46909919
GPT2N271T, N171TGlutamate pyruvate transaminase 2 deficiencyPathogenic
(Nov 5, 2020)
no assertion criteria provided
40.
GRCh37:
Chr16:46943834
GRCh38:
Chr16:46909922
GPT2P272L, P172LGlutamate pyruvate transaminase 2 deficiencyUncertain significance
(Dec 30, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr16:46950558
GRCh38:
Chr16:46916646
GPT2K180R, K280RGlutamate pyruvate transaminase 2 deficiencyUncertain significance
(May 26, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr16:46950563
GRCh38:
Chr16:46916651
GPT2I182V, I282VNeurodevelopmental disorderUncertain significanceno assertion criteria provided
43.
GRCh37:
Chr16:46950601
GRCh38:
Chr16:46916689
GPT2not providedLikely benign
(Jun 6, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr16:46950605
GRCh38:
Chr16:46916693
GPT2L196F, L296FGlutamate pyruvate transaminase 2 deficiencyUncertain significance
(Mar 31, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr16:46950625
GRCh38:
Chr16:46916713
GPT2not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr16:46952547
GRCh38:
Chr16:46918635
GPT2, LOC130058930not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr16:46952553-46952554
GRCh38:
Chr16:46918641-46918642
GPT2, LOC130058930P209fs, P309fsGlutamate pyruvate transaminase 2 deficiencyLikely pathogenic
(May 17, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr16:46952607
GRCh38:
Chr16:46918695
GPT2not providedLikely benign
(Feb 1, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr16:46952622
GRCh38:
Chr16:46918710
GPT2N330K, N230KInborn genetic diseasesUncertain significance
(Jun 28, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr16:46952649
GRCh38:
Chr16:46918737
GPT2not providedBenign
(Dec 11, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr16:46952667
GRCh38:
Chr16:46918755
GPT2Glutamate pyruvate transaminase 2 deficiencyUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr16:46952668
GRCh38:
Chr16:46918756
GPT2E246K, E346Knot providedUncertain significance
(Feb 9, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr16:46952674
GRCh38:
Chr16:46918762
GPT2Inborn genetic diseasesUncertain significance
(Jan 31, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr16:46952674
GRCh38:
Chr16:46918762
GPT2not providedUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr16:46956199
GRCh38:
Chr16:46922287
GPT2not providedLikely benign
(Jul 29, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr16:46956229
GRCh38:
Chr16:46922317
GPT2not providedLikely benign
(Aug 27, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr16:46956236
GRCh38:
Chr16:46922324
GPT2R374C, R274CGlutamate pyruvate transaminase 2 deficiencyUncertain significancecriteria provided, single submitter
58.
GRCh37:
Chr16:46956243-46956244
GRCh38:
Chr16:46922331-46922332
GPT2V279fs, V379fsnot providedLikely pathogenic
(Jul 30, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr16:46956250
GRCh38:
Chr16:46922338
GPT2not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr16:46956265
GRCh38:
Chr16:46922353
GPT2not providedLikely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:46956288
GRCh38:
Chr16:46922376
GPT2P291L, P391LGlutamate pyruvate transaminase 2 deficiencyConflicting interpretations of pathogenicity
(Mar 16, 2022)
no assertion criteria provided
62.
GRCh37:
Chr16:46956291-46956292
GRCh38:
Chr16:46922379-46922380
GPT2V293fs, V393fsGlutamate pyruvate transaminase 2 deficiencyLikely pathogenic
(Apr 17, 2020)
no assertion criteria provided
63.
GRCh37:
Chr16:46956291
GRCh38:
Chr16:46922379
GPT2P292L, P392Lnot providedLikely pathogenic
(May 29, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr16:46956292
GRCh38:
Chr16:46922380
GPT2not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr16:46956292
GRCh38:
Chr16:46922380
GPT2not providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:46956314
GRCh38:
Chr16:46922402
GPT2E400Q, E300Qnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
67.
GRCh37:
Chr16:46956319
GRCh38:
Chr16:46922407
GPT2not providedLikely benign
(Sep 20, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr16:46956326
GRCh38:
Chr16:46922414
GPT2R404*, R304*not providedPathogenic
(Oct 29, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr16:46958298
GRCh38:
Chr16:46924386
GPT2not providednot providedno assertion provided
70.
GRCh37:
Chr16:46958310
GRCh38:
Chr16:46924398
GPT2S308P, S408PInborn genetic diseasesUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr16:46958311
GRCh38:
Chr16:46924399
GPT2S308L, S408LInborn genetic diseasesUncertain significance
(Dec 7, 2020)
criteria provided, single submitter
72.
GRCh37:
Chr16:46958348
GRCh38:
Chr16:46924436
GPT2not providedBenign/Likely benign
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr16:46958352
GRCh38:
Chr16:46924440
GPT2D322Y, D422Ynot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr16:46958372
GRCh38:
Chr16:46924460
GPT2not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr16:46958442
GRCh38:
Chr16:46924530
GPT2V352M, V452Mnot providedLikely benign
(Oct 1, 2023)
criteria provided, single submitter
76.
GRCh37:
Chr16:46960834
GRCh38:
Chr16:46926922
GPT2Inborn genetic diseasesUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr16:46960881
GRCh38:
Chr16:46926969
GPT2not providedLikely benign
(Nov 15, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr16:46960890-46960891
GRCh38:
Chr16:46926978-46926979
GPT2G375fs, G475fsGPT2-related conditionLikely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
79.
GRCh37:
Chr16:46960897-46960898
GRCh38:
Chr16:46926985-46926986
GPT2V378fs, V478fsGlutamate pyruvate transaminase 2 deficiencyPathogenic
(Nov 5, 2020)
no assertion criteria provided
80.
GRCh37:
Chr16:46960902
GRCh38:
Chr16:46926990
GPT2not providedLikely benign
(Nov 26, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr16:46960903
GRCh38:
Chr16:46926991
GPT2V479M, V379MGlutamate pyruvate transaminase 2 deficiencyPathogenic
(Nov 7, 2020)
no assertion criteria provided
82.
GRCh37:
Chr16:46960909
GRCh38:
Chr16:46926997
GPT2G381S, G481SHereditary spastic paraplegia 73, Glutamate pyruvate transaminase 2 deficiencyConflicting interpretations of pathogenicity
(Aug 25, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr16:46960952
GRCh38:
Chr16:46927040
GPT2Glutamate pyruvate transaminase 2 deficiencyUncertain significance
(May 26, 2020)
criteria provided, single submitter
84.
GRCh37:
Chr16:46962813
GRCh38:
Chr16:46928901
GPT2not providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
85.
GRCh37:
Chr16:46962854
GRCh38:
Chr16:46928942
GPT2T506M, T406MInborn genetic diseasesUncertain significance
(Jul 25, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr16:46962905
GRCh38:
Chr16:46928993
GPT2A423V, A523Vnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr16:46940888-46965210
GPT2not specifiedUncertain significance
(Jun 26, 2023)
criteria provided, single submitter
88.
GRCh37:
Chr16:46694384-48258199
Glycogen storage disease IXbUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr16:46503573-62203182
not providedPathogenic
(Aug 31, 2021)
criteria provided, single submitter
90.
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 providedPathogenicno assertion criteria provided
91.
GRCh37:
Chr16:46503328-47004071
C16orf87, DNAJA2, GPT2, MYLK3, ORC6, SHCBP1, VPS35not providedUncertain significance
(Jul 7, 2020)
no assertion criteria provided
92.
GRCh37:
Chr16:46503968-47312075
ITFG1, SHCBP1, DNAJA2, ORC6, NETO2, MYLK3, VPS35, GPT2, C16orf87not providedUncertain significance
(Dec 9, 2019)
no assertion criteria provided
93.
GRCh37:
Chr16:46503572-47114342
VPS35, GPT2, C16orf87, ORC6, MYLK3, DNAJA2, SHCBP1not providedUncertain significance
(Oct 7, 2019)
no assertion criteria provided
94.
GRCh37:
Chr16:46467497-47004071
C16orf87, ORC6, MYLK3, DNAJA2, SHCBP1, VPS35, GPT2not providedUncertain significance
(Jul 7, 2020)
no assertion criteria provided
95.
GRCh37:
Chr16:46531203-47074235
ORC6, GPT2, MYLK3, SHCBP1, VPS35, DNAJA2, C16orf87not providedBenign
(Dec 10, 2014)
no assertion criteria provided
96.
GRCh37:
Chr16:46499176-47003285
SHCBP1, DNAJA2, MYLK3, C16orf87, ORC6, VPS35, GPT2not providedBenign
(Aug 10, 2012)
no assertion criteria provided
97.
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 providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
98.
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 providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
99.
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 providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
100.
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 responsedrug response
(Nov 27, 2017)
no assertion criteria provided
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