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Items: 1 to 100 of 1494

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:
Chr16:47284555-54155388
GRCh38:
Chr16:47250644-54121476
ABCC11, ABCC12, ADCY7, AKTIP, BRD7, C16orf78, CASC16, CASC22, CBLN1, CHD9, CHD9NB, CNEP1R1, CYLD, CYLD-AS1, CYLD-AS2, FTO, FTO-IT1, HEATR3, HEATR3-AS1, HNRNPA1L3, ITFG1, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LINC03064, LOC101927272, LOC102723373, LOC105371240, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC112449713, LOC112449714, LOC112449715, LOC112449716, LOC112449717, LOC113939952, LOC113939953, LOC113939954, LOC121587545, LOC121847987, LOC121847988, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC125177313, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, LOC129390788, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC129390795, 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, LOC132090379, LOC132090380, LONP2, MIR3181, MIR6771, N4BP1, NKD1, NOD2, PHKB, RBL2, RPGRIP1L, SALL1, SIAH1, SNX20, TENT4B, TOX3, ZNF423
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr16:48576994-53913828
GRCh38:
Chr16:48543083-53879916
LOC110120584, LOC110120585, LOC110120586, LOC126862354, LOC129390788, LOC129390789, LOC129390790, LOC130058997, LOC130058998, RBL2, RPGRIP1L, LOC130058999, LOC130059000, LOC130059001, LOC130059002, LOC130059003, LOC130059004, LOC130059005, LOC130059006, LOC130059007, LOC130059011, LOC130059012, LOC130059018, LOC130059019, LOC130059008, LOC130059009, LOC130059010, LOC130058964, LOC130058965, LOC130058966, LOC130059013, LOC130059014, LOC130059015, LOC130059016, LOC130059017, LOC129390791, LOC129390792, LOC129390793, LOC110120588, LOC110120836, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC113939953, LOC113939954, LOC121587545, LOC121847987, LOC121847988, LOC110120823, LOC110120826, LOC130058969, LOC130058971, LOC130058972, LOC129390794, LOC129390795, LOC130058967, LOC130058968, LOC130058970, ADCY7, AKTIP, BRD7, LOC130058962, LOC130058963, LOC110120587, LOC110121339, LOC112449715, LOC113939952, C16orf78, CASC16, CASC22, CBLN1, CHD9, CHD9NB, CNEP1R1, CYLD, CYLD-AS1, CYLD-AS2, FTO, HEATR3, HEATR3-AS1, HNRNPA1L3, LINC00919, LINC01571, LINC02127, LINC02128, LINC02168, LINC02178, LINC02179, LINC02180, LINC02911, LINC03064, LOC101927272, LOC102723373, LOC105371240, LOC110120581, LOC110120582, LOC110120583, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC130058973, LOC130058974, LOC130058975, LOC130058976, LOC130058977, LOC130058978, LOC130058979, LOC130058980, LOC130058981, LOC130058982, LOC130058983, LOC130058984, LOC130058985, LOC130058986, LOC130058987, LOC130058988, LOC130058989, LOC130058990, LOC130058991, LOC130058992, LOC130058993, LOC130058994, LOC130058995, LOC130058996, LOC130059020, LOC130059021, LOC130059022, LOC130059023, LOC130059024, LOC130059025, LOC130059026, LOC130059027, LOC130059028, LOC130059029, LOC130059030, LOC130059031, LOC130059032, LOC130059033, LOC130059034, LOC130059035, LOC132090379, LOC132090380, MIR3181, MIR6771, N4BP1, NKD1, NOD2, SALL1, SNX20, TENT4B, TOX3, ZNF423
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
4.
GRCh37:
Chr16:49719432-68435615
GRCh38:
Chr16:49685521-68401712
LINC02168, LINC02169, LINC02178, LINC02180, LINC02911, LINC03064, LOC100505942, LOC101927272, LOC101927480, LOC101927556, LOC102723373, LOC102725116, LOC105371296, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120835, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC110121356, LOC110121443, LOC112449715, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC113939954, LOC121587545, LOC121587546, LOC121587547, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121847987, LOC121847988, LOC121847989, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC126862365, LOC126862366, LOC126862367, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC129390789, LOC129390790, LOC129390791, LOC129390792, LOC129390793, LOC129390794, LOC129390795, LOC129390796, LOC129390797, LOC129390798, LOC129390799, LOC129390800, LOC129390801, LOC129390802, LOC129390803, LOC129390804, 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, LOC130059150, LOC130059151, LOC130059152, LOC130059153, LOC130059154, LOC130059155, LOC130059156, LOC130059157, LOC130059158, LOC130059159, LOC130059160, LOC130059161, LOC130059162, LOC130059163, LOC130059164, LOC130059165, LOC130059166, LOC130059167, LOC130059168, LOC130059169, LOC130059170, LOC130059171, LOC130059172, LOC130059173, LOC130059174, LOC130059175, LOC130059176, LOC130059177, LOC130059178, LOC130059179, LOC130059180, LOC130059181, LOC130059182, LOC130059183, LOC130059184, LOC130059185, LOC130059186, LOC130059187, LOC130059188, LOC130059189, LOC130059190, LOC130059191, LOC130059192, LOC130059193, LOC130059194, LOC130059195, LOC130059196, LOC130059197, LOC130059198, LOC130059199, LOC130059200, LOC130059201, LOC130059202, LOC130059203, LOC130059204, LOC130059205, LOC130059206, LOC130059207, LOC130059208, LOC130059209, LOC130059210, LOC130059211, LOC130059212, LOC130059213, LOC130059214, LOC130059215, LOC130059216, LOC130059217, LOC130059218, LOC130059219, LOC130059220, LOC130059221, LOC130059222, LOC130059223, LOC130059224, LOC130059225, LOC130059226, LOC130059227, LOC130059228, LOC130059229, LOC130059230, LOC130059231, LOC130059232, LOC130059233, LOC130059234, LOC130059235, LOC130059236, LOC130059237, LOC130059238, LOC130059239, LOC130059240, LOC130059241, LOC130059242, LOC130059243, LOC130059244, LOC130059245, LOC130059246, LOC130059247, LOC130059248, LOC130059249, LOC130059250, LOC130059251, LOC130059252, LOC130059253, LOC130059254, LOC130059255, LOC130059256, LOC130059257, LOC130059258, LOC130059259, LOC130059260, LOC130059261, LOC130059262, LOC130059263, LOC130059264, LOC130059265, LOC130059266, LOC130059267, LOC130059268, LOC130059269, LOC130059270, LOC130059271, LOC130059272, LOC130059273, LOC130059274, LOC130059275, LOC130059276, LOC130059277, LOC130059278, LOC130059279, LOC130059280, LOC130059281, LOC132090379, LOC132090380, LOC132090381, LOC132090382, LOC132090383, LOC132090384, LOC132090385, LOC132090386, LOC132090387, LOC132090388, LOC132090389, LOC132090390, LOC388282, LPCAT2, LRRC29, LRRC36, MATCAP1, MIR138-2, MIR3181, MIR328, MIR3935, MIR6771, MIR6772, MIR6773, MIR6863, MMP15, MMP2, MMP2-AS1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NAE1, NDRG4, NFATC3, NKD1, NLRC5, NOD2, NOL3, NRN1L, NUDT21, NUP93, NUP93-DT, NUTF2, OGFOD1, PARD6A, PDP2, PHAF1, PLA2G15, PLEKHG4, PLLP, POLR2C, PRMT7, PRSS54, PSKH1, PSMB10, ACD, ADCY7, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ARL2BP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, BBS2, BEAN1, BEAN1-AS1, BRD7, C16orf86, CA7, CAPNS2, CARMIL2, CASC16, CASC22, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH11, CDH16, CDH5, CDH8, CDH8-AS1, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CHD9, CHD9NB, CIAO2B, CIAPIN1, CKLF, CKLF-CMTM1, CMTM1, CMTM2, CMTM3, CMTM4, CNEP1R1, CNGB1, CNOT1, COQ9, CPNE2, CRNDE, CSNK2A2, CTCF, CTCF-DT, CTRL, CX3CL1, CYLD, CYLD-AS1, CYLD-AS2, DDX28, DOK4, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, FBXL8, FHOD1, FRA16B, FTO, FTO-IT1, GFOD2, GINS3, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, HEATR3, HEATR3-AS1, HERPUD1, HNRNPA1L3, HSD11B2, HSF4, IRX3, IRX5, IRX6, KATNB1, KCTD19, KIFC3, LCAT, LINC00919, LINC00920, LINC00922, LINC01571, LINC02126, LINC02127, LINC02128, LINC02137, LINC02140, LINC02141, PSME3IP1, RANBP10, RBL2, RIPOR1, RPGRIP1L, RRAD, RSPRY1, SALL1, SETD6, SLC12A3, SLC12A4, SLC38A7, SLC6A2, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50A, SNX20, SPMIP8, TENT4B, TERB1, THAP11, TK2, TMEM208, TOX3, TPPP3, TRADD, TRL-CAG2-1, TRL-CAG2-2, TSNAXIP1, USB1, ZDHHC1, ZNF319, ZNF423
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
5.
GRCh37:
Chr16:50818240-55600627
GRCh38:
Chr16:50784329-55566715
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr16:52933095-90155062
GRCh38:
Chr16:52899183-90088654
LOC130059684, LOC130059685, LOC130059686, LOC130059687, LOC130059688, LOC130059689, LOC130059690, LOC130059691, LOC130059692, LOC130059693, LOC130059694, LOC130059695, LOC130059696, LOC130059697, LOC130059698, LOC130059699, LOC130059700, LOC130059701, LOC130059702, LOC130059703, LOC130059704, LOC130059705, LOC130059706, LOC130059707, LOC130059708, LOC130059709, LOC130059710, LOC130059711, LOC130059712, LOC130059713, LOC130059714, LOC130059715, LOC130059716, LOC130059717, LOC130059718, LOC130059719, LOC130059720, LOC130059721, LOC130059722, LOC130059723, LOC130059724, LOC130059725, LOC130059726, LOC130059727, LOC130059728, LOC130059729, LOC130059730, LOC130059731, LOC130059732, LOC130059733, LOC130059734, LOC130059735, LOC130059736, LOC130059737, LOC130059738, LOC130059739, LOC130059740, LOC130059741, LOC130059742, LOC130059743, LOC130059744, LOC130059745, LOC130059746, LOC130059747, LOC130059748, LOC130059749, LOC130059750, LOC130059751, LOC130059752, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, LOC130059761, LOC130059762, LOC130059763, LOC130059764, LOC130059765, LOC130059766, LOC130059767, LOC130059768, LOC130059769, LOC130059770, LOC130059771, LOC130059772, LOC130059773, LOC130059774, LOC130059775, LOC130059776, LOC130059777, LOC130059778, LOC130059779, LOC130059780, LOC130059781, LOC130059782, LOC130059783, LOC130059784, LOC130059785, LOC130059786, LOC130059787, LOC130059788, LOC130059789, LOC130059790, LOC130059791, LOC130059792, LOC130059793, LOC130059794, LOC130059795, LOC130059796, LOC130059797, LOC130059798, LOC130059799, LOC130059800, LOC130059801, LOC130059802, LOC130059803, LOC130059804, LOC130059805, LOC130059806, LOC130059807, LOC130059808, LOC130059809, LOC130059810, LOC130059811, LOC130059812, LOC130059813, LOC130059814, LOC130059815, LOC130059816, LOC130059817, LOC130059818, LOC130059819, LOC130059820, LOC130059821, LOC130059822, LOC130059823, LOC130059824, LOC130059825, LOC130059826, LOC130059827, LOC130059828, LOC130059829, LOC130059830, LOC130059831, LOC130059832, LOC130059833, LOC130059834, LOC130059835, LOC130059836, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC130059847, LOC130059848, LOC130059849, LOC130059850, LOC130059851, LOC130059852, LOC130059853, LOC130059854, LOC130059855, LOC130059856, LOC132090381, LOC132090382, LOC132090383, LOC132090384, LOC132090385, LOC132090386, LOC132090387, LOC132090388, LOC132090389, LOC132090390, LOC132090391, LOC132090392, LOC132090393, LOC132090394, LOC132090395, LOC132090396, LOC132090397, LOC132090398, LOC132090400, LOC132090401, LOC132090402, LOC132090403, LOC132090404, LOC132090405, LOC132090406, LOC132090407, LOC132090408, LOC132090409, LOC132090410, LOC132090411, LOC132090412, LOC132090413, LOC132090414, LOC132090415, LOC132090416, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090436, LOC132090438, LOC132090439, LOC132090440, LOC132090441, LOC132090442, LOC132090443, LOC132090444, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, LOC132090451, LOC132090452, LOC132090453, LOC132090887, LOC132090888, LOC132090889, LOC132090890, LOC132090891, LOC132211112, LOC339059, LOC388282, LOC400541, LOC400553, LOC654780, LOHAN2, LPCAT2, LRRC29, LRRC36, MAF, MAFTRR, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MBTPS1-DT, MC1R, MEAK7, MIR11401, MIR12128, MIR138-2, MIR140, MIR1538, MIR1910, MIR1972-2, MIR3182, MIR328, MIR3935, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6772, MIR6773, MIR6774, MIR6775, MIR6863, MIR7854, MIR8058, MLKL, MLYCD, MMP15, MMP2, MMP2-AS1, MON1B, MPHOSPH6, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTSS2, MVD, NAE1, NDRG4, NECAB2, NFAT5, NFATC3, NIP7, NLRC5, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT21, NUDT7, NUP93, NUP93-DT, NUTF2, OGFOD1, OSGIN1, PABPN1L, PARD6A, PCHILR, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PLLP, PMFBP1, POLR2C, PRDM7, PRMT7, PRSS54, PSKH1, PSMB10, PSMD7, PSMD7-DT, PSME3IP1, RANBP10, RBL2, RFWD3, RIPOR1, RNF166, RPGRIP1L, RPL13, RRAD, RSPRY1, SDR42E1, SETD6, SF3B3, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNAI3-AS1, SNORA119, SNORA46, SNORA50A, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD68, SNORD71, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, SPMIP8, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRL-CAG2-1, TRL-CAG2-2, TRM-CAT2-1, TRM-CAT6-1, TSNAXIP1, TUBB3, TXNL4B, USB1, USP10, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF319, ZNF469, ZNF778, ZNF778-DT, ZNF821, ZNRF1, LOC130059170, LOC130059171, LOC130059172, LOC130059173, LOC130059174, LOC130059175, LOC130059176, LOC130059177, LOC130059178, LOC130059179, LOC130059180, LOC130059181, LOC130059182, LOC130059183, LOC130059184, LOC130059185, LOC130059186, LOC130059187, LOC130059188, LOC130059189, LOC130059190, LOC130059191, LOC130059192, LOC130059193, LOC130059194, LOC130059195, LOC130059196, LOC130059197, LOC130059198, LOC130059199, LOC130059200, LOC130059201, LOC130059202, LOC130059203, LOC130059204, LOC130059205, LOC130059206, LOC130059207, LOC130059208, LOC130059209, LOC130059210, LOC130059211, LOC130059212, LOC130059213, LOC130059214, LOC130059215, LOC130059216, LOC130059217, LOC130059218, LOC130059219, LOC130059220, LOC130059221, LOC130059222, LOC130059223, LOC130059224, LOC130059225, LOC130059226, LOC130059227, LOC130059228, LOC130059229, LOC130059230, LOC130059231, LOC130059232, LOC130059233, LOC130059234, LOC130059235, LOC130059236, LOC130059237, LOC130059238, LOC130059239, LOC130059240, LOC130059241, LOC130059242, LOC130059243, LOC130059244, LOC130059245, LOC130059246, LOC130059247, LOC130059248, LOC130059249, LOC130059250, LOC130059251, LOC130059252, LOC130059253, LOC130059254, LOC130059255, LOC130059256, LOC130059257, LOC130059258, LOC130059259, LOC130059260, LOC130059261, LOC130059262, LOC130059263, LOC130059264, LOC130059265, LOC130059266, LOC130059267, LOC130059268, LOC130059269, LOC130059270, LOC130059271, LOC130059272, LOC130059273, LOC130059274, LOC130059275, LOC130059276, LOC130059277, LOC130059278, LOC130059279, LOC130059280, LOC130059281, LOC130059282, LOC130059283, LOC130059284, LOC130059285, LOC130059286, LOC130059287, LOC130059288, LOC130059289, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298, LOC130059299, LOC130059300, LOC130059301, LOC130059302, LOC130059303, LOC130059304, LOC130059305, LOC130059306, LOC130059307, LOC130059308, LOC130059309, LOC130059310, LOC130059311, LOC130059312, LOC130059313, LOC130059314, LOC130059315, LOC130059316, LOC130059317, LOC130059318, LOC130059319, LOC130059320, LOC130059321, LOC130059322, LOC130059323, LOC130059324, LOC130059325, LOC130059326, LOC130059327, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, LOC130059343, LOC130059344, LOC130059345, LOC130059346, LOC130059347, LOC130059348, LOC130059349, LOC130059350, LOC130059351, LOC130059352, LOC130059353, LOC130059354, LOC130059355, LOC130059356, LOC130059357, LOC130059358, LOC130059359, LOC130059360, LOC130059361, LOC130059362, LOC130059363, LOC130059364, LOC130059365, LOC130059366, LOC130059367, LOC130059368, LOC130059369, LOC130059370, LOC130059371, LOC130059372, LOC130059373, LOC130059374, LOC130059375, LOC130059376, LOC130059377, LOC130059378, LOC130059379, LOC130059380, LOC130059381, LOC130059382, LOC130059383, LOC130059384, LOC130059385, LOC130059386, LOC130059387, LOC130059388, LOC130059389, LOC130059390, LOC130059391, LOC130059392, LOC130059393, LOC130059394, LOC130059395, LOC130059396, LOC130059397, LOC130059398, LOC130059399, LOC130059400, LOC130059401, LOC130059402, LOC130059403, LOC130059404, LOC130059405, LOC130059406, LOC130059407, LOC130059408, LOC130059409, LOC130059410, LOC130059411, LOC130059412, LOC130059413, LOC130059414, LOC130059415, LOC130059416, LOC130059417, LOC130059418, LOC130059419, LOC130059420, LOC130059421, LOC130059422, LOC130059423, LOC130059424, LOC130059425, LOC130059426, LOC130059427, LOC130059428, LOC130059429, LOC130059430, LOC130059431, LOC130059432, LOC130059433, LOC130059434, LOC130059435, LOC130059436, LOC130059437, LOC130059438, LOC130059439, LOC130059440, LOC130059441, LOC130059442, LOC130059443, LOC130059444, LOC130059445, LOC130059446, LOC130059447, LOC130059448, LOC130059449, LOC130059450, LOC130059451, LOC130059452, LOC130059453, LOC130059454, LOC130059455, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC130059460, LOC130059461, LOC130059462, LOC130059463, LOC130059464, LOC130059465, LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC130059479, LOC130059480, LOC130059481, LOC130059482, LOC130059483, LOC130059484, LOC130059485, LOC130059486, LOC130059487, LOC130059488, LOC130059489, LOC130059490, LOC130059491, LOC130059492, LOC130059493, LOC130059494, LOC130059495, LOC130059496, LOC130059497, LOC130059498, LOC130059499, LOC130059500, LOC130059501, LOC130059502, LOC130059503, LOC130059504, LOC130059505, LOC130059506, LOC130059507, LOC130059508, LOC130059509, LOC130059510, LOC130059511, LOC130059512, LOC130059513, LOC130059514, LOC130059515, LOC130059516, LOC130059517, LOC130059518, LOC130059519, LOC130059520, LOC130059521, LOC130059522, LOC130059523, LOC130059524, LOC130059525, LOC130059526, LOC130059527, LOC130059528, LOC130059529, LOC130059530, LOC130059531, LOC130059532, LOC130059533, LOC130059534, LOC130059535, LOC130059536, LOC130059537, LOC130059538, LOC130059539, LOC130059540, LOC130059541, LOC130059542, LOC130059543, LOC130059544, LOC130059545, LOC130059546, LOC130059547, LOC130059548, LOC130059549, LOC130059550, LOC130059551, LOC130059552, LOC130059553, LOC130059554, LOC130059555, LOC130059556, LOC130059557, LOC130059558, LOC130059559, LOC130059560, LOC130059561, LOC130059562, LOC130059563, LOC130059564, LOC130059565, LOC130059566, LOC130059567, LOC130059568, LOC130059569, LOC130059570, LOC130059571, LOC130059572, LOC130059573, LOC130059574, LOC130059575, LOC130059576, LOC130059577, LOC130059578, LOC130059579, LOC130059580, LOC130059581, LOC130059582, LOC130059583, LOC130059584, LOC130059585, LOC130059586, LOC130059587, LOC130059588, LOC130059589, LOC130059590, LOC130059591, LOC130059592, LOC130059593, LOC130059594, LOC130059595, LOC130059596, LOC130059597, LOC130059598, LOC130059599, LOC130059600, LOC130059601, LOC130059602, LOC130059603, LOC130059604, LOC130059605, LOC130059606, LOC130059607, LOC130059608, LOC130059609, LOC130059610, LOC130059611, LOC130059612, LOC130059613, LOC130059614, LOC130059615, LOC130059616, LOC130059617, LOC130059618, LOC130059619, LOC130059620, LOC130059621, LOC130059622, LOC130059623, LOC130059624, LOC130059625, LOC130059626, LOC130059627, LOC130059628, LOC130059629, LOC130059630, LOC130059631, LOC130059632, LOC130059633, LOC130059634, LOC130059635, LOC130059636, LOC130059637, LOC130059638, LOC130059639, LOC130059640, LOC130059641, LOC130059642, LOC130059643, LOC130059644, LOC130059645, LOC130059646, LOC130059647, LOC130059648, LOC130059649, LOC130059650, LOC130059651, LOC130059652, LOC130059653, LOC130059654, LOC130059655, LOC130059656, LOC130059657, LOC130059658, LOC130059659, LOC130059660, LOC130059661, LOC130059662, LOC130059663, LOC130059664, LOC130059665, LOC130059666, LOC130059667, LOC130059668, LOC130059669, LOC130059670, LOC130059671, LOC130059672, LOC130059673, LOC130059674, LOC130059675, LOC130059676, LOC130059677, LOC130059678, LOC130059679, LOC130059680, LOC130059681, LOC130059682, LOC130059683, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100505942, LOC100506281, LOC101927480, LOC101927556, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102723373, LOC102724467, LOC102725116, LOC105371296, LOC105371328, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120824, LOC110120835, LOC110120837, LOC110120838, LOC110120839, LOC110121356, LOC110121410, LOC110121411, LOC110121436, LOC110121443, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587546, LOC121587547, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847988, LOC121847989, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC126862365, LOC126862366, LOC126862367, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC129390795, LOC129390796, LOC129390797, LOC129390798, LOC129390799, LOC129390800, LOC129390801, LOC129390802, LOC129390803, LOC129390804, LOC129390805, LOC129390806, LOC129390807, LOC129390808, LOC129390809, LOC129390810, LOC129390811, LOC129390812, LOC129390813, LOC129390814, LOC129390815, LOC129390816, LOC129390817, 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, LOC130059150, LOC130059151, LOC130059152, LOC130059153, LOC130059154, LOC130059155, LOC130059156, LOC130059157, LOC130059158, LOC130059159, LOC130059160, LOC130059161, LOC130059162, LOC130059163, LOC130059164, LOC130059165, LOC130059166, LOC130059167, LOC130059168, LOC130059169, ADAT1, AARS1, ACD, ACSF3, ADAD2, ADAMTS18, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ANKRD11, AP1G1, APRT, ARL2BP, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BANP, BBS2, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, C16orf95-DT, CA5A, CA7, CALB2, CAPNS2, CARMIL2, CBFA2T3, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH16, CDH1, CDH11, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDH3, CDH3-AS1, CDH5, CDH8, CDH8-AS1, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CFDP1, CHD9, CHD9NB, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIAPIN1, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COG8, COQ9, COTL1, COX4I1, CPHXL, CPHXL2, CPNE2, CPNE7, CRISPLD2, CRNDE, CSNK2A2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, DBNDD1, DDX19A, DDX19A-DT, DDX19B, DDX28, DEF8, DERPC, DHODH, DHX38, DNAAF1, DOK4, DPEP1, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, FRA16B, FTO, FTO-IT1, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GINS3, GLG1, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, GSE1, HAS3, HCCAT5, HERPUD1, HP, HPR, HSALR1, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IRX3, IRX5, IRX6, IST1, JPH3, KARS1, KATNB1, KCNG4, KCTD19, KIAA0513, KIFC3, KLHDC4, KLHL36, LCAT, LDHD, LINC00304, LINC00311, LINC00917, LINC00920, LINC00922, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02126, LINC02131, LINC02135, LINC02136, LINC02137, LINC02138, LINC02139, LINC02140, LINC02141, LINC02166, LINC02169, LINC02176
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
7.
GRCh37:
Chr16:53634105
GRCh38:
Chr16:53600193
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr16:53634119
GRCh38:
Chr16:53600207
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr16:53634295
GRCh38:
Chr16:53600383
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Benign
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr16:53634343
GRCh38:
Chr16:53600431
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr16:53634361
GRCh38:
Chr16:53600449
RPGRIP1LJoubert syndrome 7, not provided, Meckel syndrome, type 5,
Nephronophthisis 8
Conflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr16:53634391
GRCh38:
Chr16:53600479
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr16:53634404
GRCh38:
Chr16:53600492
RPGRIP1LJoubert syndrome 7, Meckel syndrome, type 5, not provided,
Nephronophthisis 8
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr16:53634478
GRCh38:
Chr16:53600566
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr16:53634506
GRCh38:
Chr16:53600594
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr16:53634527
GRCh38:
Chr16:53600615
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr16:53634603
GRCh38:
Chr16:53600691
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr16:53634679
GRCh38:
Chr16:53600767
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr16:53634712
GRCh38:
Chr16:53600800
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr16:53634781
GRCh38:
Chr16:53600869
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr16:53634782
GRCh38:
Chr16:53600870
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr16:53634953
GRCh38:
Chr16:53601041
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr16:53634955
GRCh38:
Chr16:53601043
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr16:53635008
GRCh38:
Chr16:53601096
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr16:53635087
GRCh38:
Chr16:53601175
RPGRIP1LNephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr16:53635113
GRCh38:
Chr16:53601201
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr16:53635137
GRCh38:
Chr16:53601225
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr16:53635142
GRCh38:
Chr16:53601230
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr16:53635166
GRCh38:
Chr16:53601254
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr16:53635251
GRCh38:
Chr16:53601339
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Benign
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr16:53635290
GRCh38:
Chr16:53601378
RPGRIP1LNephronophthisis 8, Joubert syndrome 7, Meckel syndrome, type 5
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr16:53635362
GRCh38:
Chr16:53601450
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr16:53635400
GRCh38:
Chr16:53601488
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr16:53635456
GRCh38:
Chr16:53601544
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr16:53635482
GRCh38:
Chr16:53601570
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr16:53635497
GRCh38:
Chr16:53601585
RPGRIP1LNephronophthisis 8, Joubert syndrome 7, not provided,
Meckel syndrome, type 5
Conflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr16:53635570
GRCh38:
Chr16:53601658
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr16:53635656
GRCh38:
Chr16:53601744
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr16:53635718
GRCh38:
Chr16:53601806
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr16:53635719
GRCh38:
Chr16:53601807
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr16:53635726
GRCh38:
Chr16:53601814
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr16:53635829
GRCh38:
Chr16:53601917
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr16:53635855
GRCh38:
Chr16:53601943
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr16:53635863
GRCh38:
Chr16:53601951
RPGRIP1LJoubert syndrome 7, Nephronophthisis 8, Meckel syndrome, type 5
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr16:53635869
GRCh38:
Chr16:53601957
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr16:53635881
GRCh38:
Chr16:53601969
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr16:53635933
GRCh38:
Chr16:53602021
RPGRIP1Lnot provided, Nephronophthisis 8, Meckel syndrome, type 5,
Joubert syndrome 7
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr16:53635935
GRCh38:
Chr16:53602023
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr16:53635997
GRCh38:
Chr16:53602085
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Oct 20, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr16:53636000
GRCh38:
Chr16:53602088
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermis, not specified,
Nephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:53636001
GRCh38:
Chr16:53602089
RPGRIP1LD1232A, D1278A, D1266A, D1312AMeckel-Gruber syndrome, Familial aplasia of the vermis, RPGRIP1L-related condition
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:53636008
GRCh38:
Chr16:53602096
RPGRIP1LR1276G, R1310G, R1230G, R1264GRPGRIP1L-related condition, Meckel-Gruber syndrome, Familial aplasia of the vermis
Conflicting interpretations of pathogenicity
(Dec 3, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr16:53636016
GRCh38:
Chr16:53602104
RPGRIP1LK1227R, K1261R, K1273R, K1307RFamilial aplasia of the vermis, Meckel-Gruber syndromeUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr16:53636024
GRCh38:
Chr16:53602112
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Jul 28, 2020)
criteria provided, single submitter
55.
GRCh37:
Chr16:53636033
GRCh38:
Chr16:53602121
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Oct 4, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr16:53636033
GRCh38:
Chr16:53602121
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Mar 23, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr16:53636035
GRCh38:
Chr16:53602123
RPGRIP1LA1255T, A1267T, A1221T, A1301TMeckel-Gruber syndrome, Familial aplasia of the vermis, RPGRIP1L-related condition
Uncertain significance
(Apr 27, 2023)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr16:53636039
GRCh38:
Chr16:53602127
RPGRIP1Lnot specified, Meckel-Gruber syndrome, Familial aplasia of the vermis
Likely benign
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:53636047
GRCh38:
Chr16:53602135
RPGRIP1LE1263K, E1251K, E1297K, E1217KFamilial aplasia of the vermis, Meckel-Gruber syndromeUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr16:53636048
GRCh38:
Chr16:53602136
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Apr 15, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr16:53636049
GRCh38:
Chr16:53602137
RPGRIP1LV1296D, V1216D, V1250D, V1262DFamilial aplasia of the vermis, Meckel-Gruber syndromeUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr16:53636050
GRCh38:
Chr16:53602138
RPGRIP1LV1262I, V1250I, V1216I, V1296IMeckel-Gruber syndrome, Familial aplasia of the vermisUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr16:53636054
GRCh38:
Chr16:53602142
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8,
Joubert syndrome 7, not provided, Meckel syndrome, type 5
Conflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr16:53636056
GRCh38:
Chr16:53602144
RPGRIP1LV1248I, V1214I, V1260I, V1294IFamilial aplasia of the vermis, Meckel-Gruber syndromeUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr16:53636058
GRCh38:
Chr16:53602146
RPGRIP1LR1293T, R1213T, R1247T, R1259Tnot providedUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr16:53636062
GRCh38:
Chr16:53602150
RPGRIP1LL1292F, L1258F, L1212F, L1246FInborn genetic diseasesUncertain significance
(Sep 12, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr16:53636072
GRCh38:
Chr16:53602160
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Jan 5, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr16:53636078
GRCh38:
Chr16:53602166
RPGRIP1Lnot specified, Meckel-Gruber syndrome, Familial aplasia of the vermis
Likely benign
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr16:53636079
GRCh38:
Chr16:53602167
RPGRIP1LG1206V, G1240V, G1286V, G1252VFamilial aplasia of the vermis, Meckel-Gruber syndromeUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr16:53636088
GRCh38:
Chr16:53602176
RPGRIP1LR1249Q, R1283Q, R1237Q, R1203QFamilial aplasia of the vermis, Meckel-Gruber syndromeUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr16:53636089
GRCh38:
Chr16:53602177
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Feb 9, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr16:53636091
GRCh38:
Chr16:53602179
RPGRIP1LA1282V, A1202V, A1236V, A1248VMeckel-Gruber syndrome, Familial aplasia of the vermisUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr16:53636092
GRCh38:
Chr16:53602180
RPGRIP1LA1248T, A1282T, A1236T, A1202TMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(Feb 1, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr16:53636097
GRCh38:
Chr16:53602185
RPGRIP1LF1200S, F1280S, F1246S, F1234SMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
Inborn genetic diseases, Nephronophthisis 8, Joubert syndrome 7
Conflicting interpretations of pathogenicity
(Apr 18, 2023)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr16:53636099
GRCh38:
Chr16:53602187
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Sep 17, 2020)
criteria provided, single submitter
76.
GRCh37:
Chr16:53636104
GRCh38:
Chr16:53602192
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Jun 21, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr16:53636113
GRCh38:
Chr16:53602201
RPGRIP1Lnot specifiedLikely benigncriteria provided, single submitter
78.
GRCh37:
Chr16:53636115
GRCh38:
Chr16:53602203
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Feb 25, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr16:53636116
GRCh38:
Chr16:53602204
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermisLikely benign
(Aug 10, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr16:53636119
GRCh38:
Chr16:53602207
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Aug 22, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr16:53636120
GRCh38:
Chr16:53602208
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(May 1, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr16:53636409
GRCh38:
Chr16:53602497
RPGRIP1Lnot providedBenign
(Jun 19, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr16:53639070
GRCh38:
Chr16:53605158
RPGRIP1Lnot providedLikely benign
(Jun 28, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr16:53639208
GRCh38:
Chr16:53605296
RPGRIP1Lnot providedBenign
(Jun 29, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr16:53639381
GRCh38:
Chr16:53605469
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermisLikely benign
(Oct 5, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr16:53639388
GRCh38:
Chr16:53605476
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermisUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr16:53639390
GRCh38:
Chr16:53605478
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7
Uncertain significance
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:53639392
GRCh38:
Chr16:53605480
RPGRIP1LInborn genetic diseasesUncertain significance
(Nov 9, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr16:53639396
GRCh38:
Chr16:53605484
RPGRIP1LD1198N, D1278N, D1232N, D1244NInborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:53639397
GRCh38:
Chr16:53605485
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Aug 28, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr16:53639399
GRCh38:
Chr16:53605487
RPGRIP1LI1231V, I1197V, I1243V, I1277VFamilial aplasia of the vermis, Meckel-Gruber syndrome, Inborn genetic diseases
Uncertain significance
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr16:53639400
GRCh38:
Chr16:53605488
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Jun 14, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr16:53639401
GRCh38:
Chr16:53605489
RPGRIP1LN1242S, N1276S, N1196S, N1230SFamilial aplasia of the vermis, Meckel-Gruber syndromeUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr16:53639404
GRCh38:
Chr16:53605492
RPGRIP1LQ1241R, Q1195R, Q1229R, Q1275RNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7
Uncertain significance
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:53639409
GRCh38:
Chr16:53605497
RPGRIP1LI1227M, I1239M, I1273M, I1193MMeckel-Gruber syndrome, Familial aplasia of the vermisUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr16:53639410
GRCh38:
Chr16:53605498
RPGRIP1LI1273T, I1227T, I1239T, I1193TInborn genetic diseases, Joubert syndrome 7, COACH syndrome 3,
Meckel syndrome, type 5, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr16:53639412
GRCh38:
Chr16:53605500
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndromeLikely benign
(Mar 25, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr16:53639416-53639417
GRCh38:
Chr16:53605504-53605505
RPGRIP1LD1225fs, D1191fs, D1237fs, D1271fsMeckel syndrome, type 5, Meckel-Gruber syndrome, Familial aplasia of the vermis
Conflicting interpretations of pathogenicity
(Jun 9, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr16:53639417
GRCh38:
Chr16:53605505
RPGRIP1LD1191fs, D1225fs, D1271fs, D1237fsMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(Jun 4, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr16:53639419
GRCh38:
Chr16:53605507
RPGRIP1LR1190K, R1224K, R1236K, R1270KMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(Oct 29, 2021)
criteria provided, single submitter
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