| - GRCh37:
- Chr2:66097-55797773
- GRCh38:
- Chr2:66097-55570637
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LOC129933197, LOC129933198, LOC129933199, LOC129933200, LOC129933201, LOC129933202, LOC129933203, LOC129933204, LOC129933205, LOC129933206, LOC129933207, LOC129933208, LOC129933209, LOC129933210, LOC129933211, LOC129933212, LOC129933213, LOC129933214, LOC129933215, LOC129933216, LOC129933217, LOC129933218, LOC129933219, LOC129933220, LOC129933221, LOC129933222, LOC129933223, LOC129933224, LOC129933225, LOC129933226, LOC129933227, LOC129933228, LOC129933229, LOC129933230, LOC129933231, LOC129933232, LOC129933233, LOC129933234, LOC129933235, LOC129933236, LOC129933237, LOC129933238, LOC129933239, LOC129933240, LOC129933241, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC132088754, LOC132088755, LOC132088756, LOC132088757, LOC132088838, LOC132088839, LOC132088840, LOC132088841, LOC132088842, LOC132088843, LOC132088844, LOC132088845, LOC132088846, LOC132088847, LOC132088849, LOC375196, LOC400940, LOC653602, LPIN1, LRATD1, LRPPRC, LTBP1, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MATN3, MBOAT2, MCFD2, MEMO1, MFSD2B, MIR1301, MIR3125, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4429, MIR4430, MIR4431, MIR4757, MIR4765, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR7158, MIR7515, MIR7515HG, MIR8485, MORN2, MPV17, MRPL33, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTIF2, MYCN, MYCNOS, MYCNUT, NOL10, MYT1L, MYT1L-AS1, NBAS, NCOA1, NDUFAF7, NLRC4, NRBP1, NRIR, NRXN1, NRXN1-DT, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OXER1, PCARE, PDIA6, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEKHH2, POMC, PPM1B, PPM1B-DT, PPM1G, PPP1CB, PPP1R21, PPP4R3B, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PRR30, PSME4, PTRHD1, PUM2, PXDN, QPCT, RAB10, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RNASEH1, RNASEH1-DT, RNF144A, ROCK2, RPS27A, RPS7, RRM2, RSAD2, RTN4, SDC1, SELENOI, SF3B6, SH3YL1, SILC1, SIX2, SIX3, SIX3-AS1, SLC30A3, SLC30A6, SLC30A6-DT, SLC35F6, SLC3A1, SLC4A1AP, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMC6, SNORA10B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNTG2, SNTG2-AS1, SNX17, SOCS5, SOS1, SOS1-IT1, SOX11, SPAST, SPATA31H1, SPDYA, SPTBN1, SPTBN1-AS1, SPTBN1-AS2, SRBD1, SRD5A2, SRSF7, STON1, STON1-GTF2A1L, STPG4, STRN, SULT6B1, SUPT7L, TAF1B, TCF23, TDRD15, THADA, THUMPD2, TMEM178A, TMEM18, TMEM18-DT, TMEM214, TMEM247, TOGARAM2, TP53I3, TPO, TRA-AGC8-1, TRAPPC12, TRAPPC12-AS1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC32, TTC7A, UBXN2A, UCN, VIT, VSNL1, WDCP, WDR35, WDR35-DT, WDR43, XDH, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:7635254-88005418
- GRCh38:
- Chr2:7495123-87705899
| LOC129933044, LOC129933045, LOC129933046, LOC129933047, LOC129933048, LOC129933049, LOC129933050, LOC129933051, LOC129933052, LOC129933053, LOC129933054, LOC129933055, LOC129933056, LOC129933057, LOC129933058, LOC129933059, LOC129933060, LOC129933061, LOC129933062, LOC129933063, LOC129933064, LOC129933065, LOC129933066, LOC129933067, LOC129933068, LOC129933069, LOC129933070, LOC129933071, LOC129933072, LOC129933073, LOC129933074, LOC129933075, LOC129933076, LOC129933077, LOC129933078, LOC129933079, LOC129933080, LOC129933081, LOC129933082, LOC129933083, LOC129933084, LOC129933085, LOC129933086, LOC129933087, LOC129933088, LOC129933089, LOC129933090, LOC129933091, LOC129933092, LOC129933093, LOC129933094, LOC129933095, LOC129933096, LOC129933097, LOC129933098, LOC129933099, LOC129933100, LOC129933101, LOC129933102, LOC129933103, LOC129933104, LOC129933105, LOC129933106, LOC129933107, LOC129933108, LOC129933109, LOC129933110, LOC129933111, LOC129933112, LOC129933113, LOC129933114, LOC129933115, LOC129933116, LOC129933117, LOC129933118, LOC129933119, LOC129933120, LOC129933121, LOC129933122, LOC129933123, LOC129933124, LOC129933125, LOC129933126, LOC129933127, LOC129933128, LOC129933129, LOC129933130, LOC129933131, LOC129933132, LOC129933133, LOC129933134, LOC129933135, LOC129933136, LOC129933137, LOC129933138, LOC129933139, LOC129933140, LOC129933141, LOC129933142, LOC129933143, LOC129933144, LOC129933145, LOC129933146, LOC129933147, LOC129933148, LOC129933149, LOC129933150, LOC129933151, LOC129933152, LOC129933153, LOC129933154, LOC129933155, LOC129933156, LOC129933157, LOC129933158, LOC129933159, LOC129933160, LOC129933161, LOC129933162, LOC129933163, LOC129933164, LOC129933165, LOC129933166, LOC129933167, LOC129933168, LOC129933169, LOC129933170, LOC129933171, LOC129933172, LOC129933173, LOC129933174, LOC129933175, LOC129933176, LOC129933177, LOC129933178, LOC129933179, LOC129933180, LOC129933181, LOC129933182, LOC129933183, LOC129933184, LOC129933185, LOC129933186, LOC129933187, LOC129933188, LOC129933189, LOC129933190, LOC129933191, LOC129933192, LOC129933193, LOC129933194, LOC129933195, LOC129933196, LOC129933197, LOC129933198, LOC129933199, LOC129933200, LOC129933201, LOC129933202, LOC129933203, LOC129933204, LOC129933205, LOC129933206, LOC129933207, LOC129933208, LOC129933209, LOC129933210, LOC129933211, LOC129933212, LOC129933213, LOC129933214, LOC129933215, LOC129933216, LOC129933217, LOC129933218, LOC129933219, LOC129933220, LOC129933221, LOC129933222, LOC129933223, LOC129933224, LOC129933225, LOC129933226, LOC129933227, LOC129933228, LOC129933229, LOC129933230, LOC129933231, LOC129933232, LOC129933233, LOC129933234, LOC129933235, LOC129933236, LOC129933237, LOC129933238, LOC129933239, LOC129933240, LOC129933241, LOC129933242, LOC129933243, LOC129933244, LOC129933245, LOC129933246, LOC129933247, LOC129933248, LOC129933249, LOC129933250, LOC129933251, LOC129933252, LOC129933253, LOC129933254, LOC129933255, LOC129933256, LOC129933257, LOC129933258, LOC129933259, LOC129933260, LOC129933261, LOC129933262, LOC129933263, LOC129933264, LOC129933265, LOC129933266, LOC129933267, LOC129933268, LOC129933269, LOC129933270, LOC129933271, LOC129933272, LOC129933273, LOC129933274, LOC129933275, LOC129933276, LOC129933277, LOC129933278, LOC129933279, LOC129933280, LOC129933281, LOC129933282, LOC129933283, LOC129933284, LOC129933285, LOC129933286, LOC129933287, LOC129933288, LOC129933289, LOC129933290, LOC129933291, LOC129933292, LOC129933293, LOC129933294, LOC129933295, LOC129933296, LOC129933297, LOC129933298, LOC129933299, LOC129933300, LOC129933301, LOC129933302, LOC129933303, LOC129933304, LOC129933305, LOC129933306, LOC129933307, LOC129933308, LOC129933309, LOC129933310, LOC129933311, LOC129933312, LOC129933313, LOC129933314, LOC129933315, LOC129933316, LOC129933317, LOC129933318, LOC129933319, LOC129933320, LOC129933321, LOC129933322, LOC129933323, LOC129933324, LOC129933325, LOC129933326, LOC129933327, LOC129933328, LOC129933329, LOC129933330, LOC129933331, LOC129933332, LOC129933333, LOC129933334, LOC129933335, LOC129933336, LOC129933337, LOC129933338, LOC129933339, LOC129933340, LOC129933341, LOC129933342, LOC129933343, LOC129933344, LOC129933345, LOC129933346, LOC129933347, LOC129933348, LOC129933349, LOC129933350, LOC129933351, LOC129933352, LOC129933353, LOC129933354, LOC129933355, LOC129933356, LOC129933357, LOC129933358, LOC129933359, LOC129933360, LOC129933361, LOC129933362, LOC129933363, LOC129933364, LOC129933365, LOC129933366, LOC129933367, LOC129933368, LOC129933369, LOC129933370, LOC129933371, LOC129933372, LOC129933373, LOC129933374, LOC129933375, LOC129933376, LOC129933377, LOC129933378, LOC129933379, LOC129933380, LOC129933381, LOC129933382, LOC129933383, LOC129933384, LOC129933385, LOC129933386, LOC129933387, LOC129933388, LOC129933389, LOC129933390, LOC129933391, LOC129933392, LOC129933393, LOC129933394, LOC129933395, LOC129933396, LOC129933397, LOC129933398, LOC129933399, LOC129933400, LOC129933401, LOC129933402, LOC129933403, LOC129933404, LOC129933405, LOC129933406, LOC129933407, LOC129933408, LOC129933409, LOC129933410, LOC129933411, LOC129933412, LOC129933413, LOC129933414, LOC129933415, LOC129933416, LOC129933417, LOC129933418, LOC129933419, LOC129933420, LOC129933421, LOC129933422, LOC129933423, LOC129933424, LOC129933425, LOC129933426, LOC129933427, LOC129933428, LOC129933429, LOC129933430, LOC129933431, LOC129933432, LOC129933433, LOC129933434, LOC129933435, LOC129933436, LOC129933437, LOC129933438, LOC129933439, LOC129933440, LOC129933441, LOC129933442, LOC129933443, LOC129933444, LOC129933445, LOC129933446, LOC129933447, LOC129933448, LOC129933449, LOC129933450, LOC129933451, LOC129933452, LOC129933453, LOC129933454, LOC129933455, LOC129933456, LOC129933457, LOC129933458, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC129933463, LOC129933464, LOC129933465, LOC129933466, LOC129933467, LOC129933468, LOC129933469, LOC129933470, LOC129933471, LOC129933472, LOC129933473, LOC129933474, LOC129933475, LOC129933476, LOC129933477, LOC129933478, LOC129933479, LOC129933480, LOC129933481, LOC129933482, LOC129933483, LOC129933484, LOC129933485, LOC129933486, LOC129933487, LOC129933488, LOC129933489, LOC129933490, LOC129933491, LOC129933492, LOC129933493, LOC129933494, LOC129933495, LOC129933496, LOC129933497, LOC129933498, LOC129933499, LOC129933500, LOC129933501, LOC129933502, LOC129933503, LOC129933504, LOC129933505, LOC129933506, LOC129933507, LOC129933508, LOC129933509, LOC129933510, LOC129933511, LOC129933512, LOC129933513, LOC129933514, LOC129933515, LOC129933516, LOC129933518, LOC129933519, LOC129933520, LOC129933521, LOC129933522, LOC129933523, LOC129933524, LOC129933525, LOC129933526, LOC129933527, LOC129933528, LOC129933529, LOC129933530, LOC129933531, LOC129933532, LOC129933533, LOC129933534, LOC129933535, LOC129933536, LOC129933537, LOC129933538, LOC129933539, LOC129933540, LOC129933541, LOC129933542, LOC129933543, LOC129933544, LOC129933545, LOC129933546, LOC129933547, LOC129933548, LOC129933549, LOC129933550, LOC129933551, LOC129933552, LOC129933553, LOC129933554, LOC129933555, LOC129933556, LOC107985792, LOC107985856, LOC108021854, LOC108021855, LOC108167315, LOC108281131, LOC108281152, LOC110120598, LOC110120611, LOC110120665, LOC110120667, LOC110120668, LOC110120669, LOC110120696, LOC110120746, LOC110120767, LOC110120782, LOC110120811, LOC110120817, LOC110120967, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, LOC110121039, LOC110121045, LOC110121071, LOC110121121, LOC110121122, LOC110121131, LOC110121136, LOC110121178, LOC110121222, LOC110121235, LOC110121243, LOC110121268, LOC110121308, LOC110599580, LOC111258501, LOC111258509, LOC111258516, LOC111258517, LOC111258518, LOC111258520, LOC111465020, LOC111556161, LOC111776219, LOC111776220, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC112841582, LOC112841589, LOC112841592, LOC112841595, LOC112841596, LOC112841597, LOC112841598, LOC112841599, LOC112841600, LOC112841601, LOC112841602, LOC112841603, LOC112841604, LOC112841605, LOC114004370, LOC114004372, LOC114004373, LOC114827832, LOC114827836, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC115945159, LOC115945160, LOC115945161, LOC115945162, LOC115945164, LOC115945183, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC120961760, LOC120961761, LOC120961762, LOC120961763, LOC120961764, LOC120961765, LOC120961766, LOC120961767, LOC120961768, LOC121725079, LOC121725080, LOC121725081, LOC121725082, LOC121725083, LOC121725084, LOC121725085, LOC121725086, LOC121725087, LOC121725088, LOC121725089, LOC121725090, LOC121725091, LOC121725092, LOC121725093, LOC121725094, LOC121725095, LOC121725096, LOC121725097, LOC122710289, LOC122756371, LOC122756372, LOC122756373, LOC122756374, LOC122756375, LOC122756376, LOC122756377, LOC122756378, LOC122756379, LOC122756380, LOC122756381, LOC122756382, LOC122756383, LOC122756384, LOC122756385, LOC122756386, LOC122756387, LOC122756388, LOC122756389, LOC122756390, LOC122756391, LOC122756392, LOC122756393, LOC122756667, LOC122756668, LOC122756669, LOC122756670, LOC122756671, LOC122756672, LOC122756673, LOC122756674, LOC122756675, LOC122756676, LOC122756677, LOC122756678, LOC122756679, LOC122756680, LOC122756681, LOC122756682, LOC122756683, LOC122756684, LOC122756685, LOC122756686, LOC122756687, LOC122756688, LOC122756689, LOC122756690, LOC122756691, LOC122757916, LOC122757917, LOC122757918, LOC122757919, LOC122757920, LOC122757921, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC122757946, LOC122757947, LOC122757948, LOC122757949, LOC122757950, LOC122757951, LOC122757952, LOC122757953, LOC122757954, LOC122757955, LOC122757956, LOC122757957, LOC122757958, LOC122757959, LOC122757960, LOC122757961, LOC122757962, LOC122757963, LOC122757964, LOC122757965, LOC122757966, 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MTIF2, MXD1, MYCN, MYCNOS, MYCNUT, NAGK, NAT8, NAT8B, NBAS, NCAL1, NCOA1, NDUFAF7, NFU1, NLRC4, NOL10, NOTO, NRBP1, NRXN1, NRXN1-DT, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OTX1, OXER1, PAIP2B, PAPOLG, PARTICL, PCARE, PCBP1, PCBP1-AS1, PCGF1, PCYOX1, PDIA6, PELI1, PEX13, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, PPM1B, PPM1B-DT, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PPP4R3B-DT, PRADC1, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PROKR1, PRR30, PSME4, PTCD3, PTRHD1, PUM2, PUS10, QPCT, RAB10, RAB11FIP5, RAB1A, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, REL-DT, RETSAT, RGPD1, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RMND5A, RNF103, RNF103-CHMP3, RNF181, ROCK2, RPS27A, RRM2, RTKN, RTN4, SANBR, SDC1, SELENOI, SEMA4F, SERTAD2, SF3B6, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SIX3-AS1, SLC1A4, SLC30A3, SLC30A6, SLC30A6-DT, SLC35F6, SLC3A1, SLC4A1AP, SLC4A5, SLC5A6, SLC66A3, SLC8A1, 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LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, LOC129933728, LOC129933729, LOC129933730, LOC129933731, LOC129933732, LOC129933733, LOC129933734, LOC129933735, LOC129933736, LOC129933737, LOC129933738, LOC129933739, LOC129933740, LOC129933741, LOC129933742, LOC129933743, LOC129933744, LOC129933745, LOC129933746, LOC129933747, LOC129933748, LOC129933749, LOC129933750, LOC129933751, LOC129933752, LOC129933753, LOC129933754, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC129933768, LOC129933769, LOC129933770, LOC129933771, LOC129933772, LOC129933773, LOC129933774, LOC129933775, LOC129933776, LOC129933777, LOC129933778, LOC129933779, LOC129933780, LOC129933781, LOC129933782, LOC129933783, LOC129933784, LOC129933785, LOC129933786, LOC129933787, LOC129933788, LOC129933789, LOC129933790, LOC129933791, LOC129933792, LOC129933793, LOC129933794, LOC129933795, LOC129933796, LOC129933797, LOC129933798, LOC129933799, LOC129933800, LOC129933801, LOC129933802, LOC129933803, LOC129933804, LOC129933805, LOC129933806, LOC129933807, LOC129933808, LOC129933809, LOC129933810, LOC129933811, LOC129933812, LOC129933813, LOC129933814, LOC129933815, LOC129933816, LOC129933817, LOC129933818, LOC129933819, LOC129933820, LOC129933821, LOC129933822, LOC129933823, LOC129933824, LOC129933825, LOC129933826, LOC129933827, LOC129933828, LOC129933829, LOC129933830, LOC129933831, LOC129933832, LOC129933833, LOC129933834, LOC129933835, LOC129933836, LOC129933837, LOC129933838, LOC129933839, LOC129933840, LOC129933841, LOC129933842, LOC129933843, LOC129933844, LOC129933845, LOC129933846, LOC129933847, LOC129933848, LOC129933849, LOC129933850, LOC129933851, LOC129933852, LOC129933853, LOC129933854, LOC129933855, LOC129933856, LOC129933857, LOC129933858, LOC129933859, LOC129933860, LOC129933861, LOC129933862, LOC129933863, LOC129933864, LOC129933865, LOC129933866, LOC129933867, LOC129933868, LOC129933869, LOC129933870, LOC129933871, LOC129933872, LOC129933873, LOC129933874, LOC129933875, LOC129933876, LOC129933877, LOC129933878, LOC129933879, LOC129933880, LOC129933881, LOC129933882, LOC129933883, LOC129933884, LOC129933885, LOC129933886, LOC129933887, LOC129933888, LOC129933889, LOC129933890, LOC129933891, LOC129933892, LOC129933893, LOC129933894, LOC129933895, LOC129933896, LOC129933897, LOC129933898, LOC129933899, LOC129933900, LOC129933901, LOC129933902, LOC129933903, LOC129933904, LOC129933905, LOC129933906, LOC129933907, LOC129933908, LOC129933909, LOC129933910, LOC129933911, LOC129933912, LOC129933913, LOC129933914, LOC129933915, LOC129933916, LOC129933917, LOC129933918, LOC129933919, LOC129933920, LOC129933921, LOC129933922, LOC129933923, LOC129933924, LOC129933925, LOC129933926, LOC129933927, LOC129933928, LOC129933929, LOC129933930, LOC129933931, LOC129933932, LOC129933933, LOC129933934, LOC129933935, LOC129933936, LOC129933937, LOC129933938, LOC129933939, LOC129933940, LOC129933941, LOC129933942, LOC129933943, LOC129933944, LOC129933945, LOC129933946, LOC129933947, LOC129933948, LOC129933949, LOC129933950, LOC129933951, LOC129933952, LOC129933953, LOC129933954, LOC129933955, LOC129933956, LOC129933957, LOC129933958, LOC129933959, LOC129933960, LOC129933961, LOC129933962, LOC129933963, LOC129933964, LOC129933965, LOC129933966, LOC129933967, LOC129933968, LOC129933969, LOC129933970, LOC129933971, LOC129933972, LOC129933973, LOC129933974, LOC129933975, LOC129933976, LOC129933977, LOC129933978, LOC129933979, LOC129933980, LOC129933981, LOC129933982, LOC129933983, LOC129933984, LOC129933985, LOC129933986, LOC129933987, LOC129933988, LOC129933989, LOC129933990, LOC129933991, LOC129933992, LOC129933993, LOC129933994, LOC129933995, LOC129933996, LOC129933997, LOC129933998, LOC129933999, LOC129934000, LOC129934001, LOC129934002, LOC129934003, LOC129934004, LOC129934005, LOC129934006, LOC129934007, LOC129934008, LOC129934009, LOC129934010, LOC129934011, LOC129934012, LOC129934013, LOC129934014, LOC129934015, LOC129934016, LOC129934017, LOC129934018, LOC129934019, LOC129934020, LOC129934021, LOC129934022, LOC129934023, LOC129934024, LOC129934025, LOC129934026, LOC129934027, LOC129934028, LOC129934029, LOC129934030, LOC129934031, LOC129934032, LOC129934033, LOC129934034, LOC129934035, LOC129934036, LOC129934037, LOC129934038, LOC129934039, LOC129934040, LOC129934041, LOC129934042, LOC129934043, LOC129934044, LOC129934045, LOC129934046, LOC129934047, LOC129934048, LOC129934049, LOC129934050, LOC129934051, LOC129934052, LOC129934053, LOC129934054, LOC129934055, LOC129934056, LOC129934057, LOC129934058, LOC129934059, LOC129934060, LOC129934061, LOC129934062, LOC129934063, LOC129934064, LOC129934065, LOC129934066, LOC129934067, LOC129934068 | | See cases | Benign (Feb 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:40965422-58090956
- GRCh38:
- Chr2:40738282-57863821
| ABCG5, ABCG8, ACYP2, ASB3, ATP6V1E2, BCYRN1, C1GALT1C1L, C2orf73, CALM2, CAMKMT, CCDC85A, CCDC88A, CFAP36, CHAC2, CLHC1, COX7A2L, CRIPT, DYNC2LI1, EFEMP1, EML4, EML4-AS1, EML6, EML6-AS1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, FBXO11, FOXN2, FSHR, GPR75, GPR75-ASB3, GTF2A1L, HAAO, KCNG3, KCNK12, LHCGR, LINC01118, LINC01119, LINC01121, LINC01126, LINC01794, LINC01813, LINC01819, LINC01820, LINC01833, LINC01867, LINC01913, LINC01914, LINC02580, LINC02583, LINC02898, LOC100129434, LOC100506235, LOC105369165, LOC110120598, LOC110120696, LOC110121071, LOC110121222, LOC110121235, LOC111465020, LOC111776219, LOC111776220, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC114004372, LOC114827832, LOC114827839, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC121725089, LOC121725090, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC122757946, LOC122757947, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC126806222, LOC126806223, LOC129388852, LOC129388853, LOC129388854, LOC129388855, LOC129388856, LOC129388857, LOC129388858, LOC129388859, LOC129388860, LOC129388861, LOC129388862, LOC129388863, LOC129933547, LOC129933548, LOC129933549, LOC129933550, LOC129933551, LOC129933552, LOC129933553, LOC129933554, LOC129933555, LOC129933556, LOC129933557, LOC129933558, LOC129933559, LOC129933560, LOC129933561, LOC129933562, LOC129933563, LOC129933564, LOC129933565, LOC129933566, LOC129933567, LOC129933568, LOC129933569, LOC129933570, LOC129933571, LOC129933572, LOC129933573, LOC129933574, LOC129933575, LOC129933576, LOC129933577, LOC129933578, LOC129933579, LOC129933580, LOC129933581, LOC129933582, LOC129933583, LOC129933584, LOC129933585, LOC129933586, LOC129933587, LOC129933588, LOC129933589, LOC129933590, LOC129933591, LOC129933592, LOC129933593, LOC129933594, LOC129933595, LOC129933596, LOC129933597, LOC129933598, LOC129933599, LOC129933600, LOC129933601, LOC129933602, LOC129933603, LOC129933604, LOC129933605, LOC129933606, LOC129933607, LOC129933608, LOC129933609, LOC129933610, LOC129933611, LOC129933612, LOC129933613, LOC129933614, LOC129933615, LOC129933616, LOC129933617, LOC129933618, LOC129933619, LOC129933620, LOC129933621, LOC129933622, LOC129933623, LOC129933624, LOC129933625, LOC129933626, LOC129933627, LOC129933628, LOC129933629, LOC129933630, LOC129933631, LOC129933632, LOC129933633, LOC129933634, LOC129933635, LOC129933636, LOC129933637, LOC129933638, LOC129933639, LOC129933640, LOC129933641, LOC129933642, LOC129933643, LOC129933644, LOC129933645, LOC129933646, LOC129933647, LOC129933648, LOC129933649, LOC129933650, LOC129933651, LOC129933652, LOC129933653, LOC129933654, LOC129933655, LOC129933656, LOC129933657, LOC129933658, LOC129933659, LOC129933660, LOC129933661, LOC129933662, LOC129933663, LOC129933664, LOC129933665, LOC129933666, LOC129933667, LOC129933668, LOC129933669, LOC129933670, LOC129933671, LOC129933672, LOC129933673, LOC129933674, LOC129933675, LOC129933676, LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, LOC129933728, LOC129933729, LOC129933730, LOC129933731, LOC129933732, LOC129933733, LOC129933734, LOC129933735, LOC129933736, LOC129933737, LOC129933738, LOC129933739, LOC129933740, LOC129933741, LOC129933742, LOC129933743, LOC129933744, LOC129933745, LOC129933746, LOC129933747, LOC129933748, LOC129933749, LOC129933750, LOC129933751, LOC129933752, LOC129933753, LOC129933754, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC129933768, LOC129933769, LOC129933770, LOC129933771, LOC129933772, LOC129933773, LOC129933774, LOC129933775, LOC129933776, LOC132088845, LOC132088847, LOC132090678, LRPPRC, MCFD2, MIR216A, MIR216B, MIR217, MIR217HG, MIR3682, MIR4431, MIR548BA, MIR559, MIR8485, MSH2, MSH2-OT1, MSH6, MTA3, MTIF2, NRXN1, NRXN1-DT, OXER1, PIGF, PKDCC, PLEKHH2, PNPT1, PPM1B, PPM1B-DT, PPP1R21, PPP4R3B, PPP4R3B-DT, PREPL, PRKCE, PRKCE-AS1, PSME4, RHOQ, RHOQ-AS1, RPS27A, RTN4, SIX2, SIX3, SIX3-AS1, SLC3A1, SOCS5, SPTBN1, SPTBN1-AS1, SPTBN1-AS2, SRBD1, STON1, STON1-GTF2A1L, STPG4, THADA, TMEM247, TRI-TAT2-1, TSPYL6, TTC7A, ZFP36L2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:46642248-48430346
- GRCh38:
- Chr2:46415109-48203207
| LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, MCFD2, MIR559, MSH2, MSH2-OT1, MSH6, PIGF, RHOQ, RHOQ-AS1, SOCS5, STPG4, TMEM247, TTC7A, ATP6V1E2, BCYRN1, CALM2, CRIPT, EPCAM, EPCAM-DT, FBXO11, KCNK12, LINC01118, LINC01119, LINC02583, LOC100506235, LOC110121235, LOC111776219, LOC111776220, LOC112840941, LOC112840942, LOC112840943, LOC114004372, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC129388860, LOC129933656, LOC129933657, LOC129933658, LOC129933659, LOC129933660, LOC129933661, LOC129933662, LOC129933663, LOC129933664, LOC129933665, LOC129933666, LOC129933667, LOC129933668, LOC129933669, LOC129933670, LOC129933671, LOC129933672, LOC129933673, LOC129933674, LOC129933675, LOC129933676 | | See cases | Uncertain significance (Jul 10, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:47033357-50792676
- GRCh38:
- Chr2:46806218-50565538
| BCYRN1, CALM2, EPCAM, EPCAM-DT, FBXO11, FOXN2, FSHR, GTF2A1L, KCNK12, LHCGR, LINC01118, LINC01119, LOC100506235, LOC110121235, LOC111776220, LOC112840941, LOC112840942, LOC112840943, LOC114004372, LOC114827832, LOC120961754, LOC120961755, LOC122757937, LOC122757938, LOC122757939, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC129388860, LOC129933675, LOC129933676, LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, MCFD2, MIR548BA, MIR559, MSH2, MSH2-OT1, STPG4, MSH6, NRXN1, PPP1R21, STON1, STON1-GTF2A1L, TTC7A | | See cases | Pathogenic (Mar 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:47316802-48706820
- GRCh38:
- Chr2:47089663-48479681
| BCYRN1, CALM2, EPCAM, EPCAM-DT, FBXO11, FOXN2, KCNK12, LOC100506235, LOC112840943, LOC114004372, LOC120961754, LOC120961755, LOC122757938, LOC122757939, LOC126806213, LOC126806214, LOC129388860, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, MIR559, MSH2, MSH2-OT1, MSH6, PPP1R21, STPG4 | | See cases | Likely pathogenic (Oct 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:47596635-48034009
- GRCh38:
- Chr2:47369496-47806870
| EPCAM, KCNK12, LOC129933696, LOC129933697, LOC129933698, LOC122757938, LOC129933695, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, MIR559, MSH2, MSH2-OT1, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Aug 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47890992-48012867
- GRCh38:
- Chr2:47663853-47785728
| LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH2, MSH6 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:47998510-48020183
- GRCh38:
- Chr2:47771371-47793044
| LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH6 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48007276-48020272
- GRCh38:
- Chr2:47780137-47793133
| LOC129933707, LOC129933708, LOC129933706, LOC129933705, MSH6 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48009816
- GRCh38:
- Chr2:47782677
| MSH6 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48009925
- GRCh38:
- Chr2:47782786
| LOC129933706, MSH6 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010028
- GRCh38:
- Chr2:47782889
| LOC129933706, MSH6 | | not provided | Likely benign (Apr 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010085
- GRCh38:
- Chr2:47782946
| LOC129933706, MSH6 | | not provided | Likely benign (Mar 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010163
- GRCh38:
- Chr2:47783024
| LOC129933706, MSH6 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010214
- GRCh38:
- Chr2:47783075
| LOC129933706, MSH6 | | Lynch syndrome | Benign (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010221-48032166
- GRCh38:
- Chr2:47783082-47805027
| LOC129933706, LOC129933707, LOC129933708, MSH6 | | Lynch syndrome | Uncertain significance (Dec 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010221-48010632
- GRCh38:
- Chr2:47783082-47783493
| LOC129933707, MSH6, LOC129933706 | | Lynch syndrome | Uncertain significance (Nov 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010221-48018262
- GRCh38:
- Chr2:47783082-47791123
| LOC129933706, LOC129933707, LOC129933708, MSH6 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010221-48034092
- GRCh38:
- Chr2:47783082-47806953
| LOC129933707, LOC129933708, FBXO11, LOC129933706, MSH6 | | Lynch syndrome | Pathogenic (Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010242-48010243
- GRCh38:
- Chr2:47783103-47783104
| LOC129933706, MSH6 | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Mar 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010255
- GRCh38:
- Chr2:47783116
| LOC129933706, MSH6 | | Lynch syndrome 5 | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010317
- GRCh38:
- Chr2:47783178
| LOC129933706, MSH6 | | Lynch syndrome 5 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010322
- GRCh38:
- Chr2:47783183
| LOC129933706, MSH6 | | Lynch syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010323
- GRCh38:
- Chr2:47783184
| LOC129933706, MSH6 | | not specified | Likely benign (May 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010324
- GRCh38:
- Chr2:47783185
| LOC129933706, MSH6 | | not provided | Likely benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010325
- GRCh38:
- Chr2:47783186
| LOC129933706, MSH6 | | not specified | Likely benign (Mar 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010326
- GRCh38:
- Chr2:47783187
| LOC129933706, MSH6 | | not specified | Likely benign (Nov 22, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010327
- GRCh38:
- Chr2:47783188
| LOC129933706, MSH6 | | not specified, Lynch syndrome 5 | Likely benign (May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010328
- GRCh38:
- Chr2:47783189
| LOC129933706, MSH6 | | not specified | Likely benign (Dec 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010328
- GRCh38:
- Chr2:47783189
| LOC129933706, MSH6 | | not specified | Likely benign (Jun 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010329
- GRCh38:
- Chr2:47783190
| LOC129933706, MSH6 | | not provided | Uncertain significance (Apr 28, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010332
- GRCh38:
- Chr2:47783193
| LOC129933706, MSH6 | | Lynch syndrome 5 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010334
- GRCh38:
- Chr2:47783195
| LOC129933706, MSH6 | | not provided | Benign (Mar 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010335
- GRCh38:
- Chr2:47783196
| LOC129933706, MSH6 | | not specified | Likely benign (Mar 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010336
- GRCh38:
- Chr2:47783197
| LOC129933706, MSH6 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010336
- GRCh38:
- Chr2:47783197
| LOC129933706, MSH6 | | not specified | Likely benign (Oct 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010339
- GRCh38:
- Chr2:47783200
| MSH6 | | not specified | Likely benign (Sep 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010339
- GRCh38:
- Chr2:47783200
| MSH6 | | not specified | Likely benign (Apr 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010345
- GRCh38:
- Chr2:47783206
| MSH6 | | not specified | Likely benign (Jun 30, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010347
- GRCh38:
- Chr2:47783208
| MSH6 | | not specified | Likely benign (Nov 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010348
- GRCh38:
- Chr2:47783209
| MSH6 | | not provided | Uncertain significance (Feb 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010349
- GRCh38:
- Chr2:47783210
| MSH6 | | not provided | Uncertain significance (Nov 23, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010353
- GRCh38:
- Chr2:47783214
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010353
- GRCh38:
- Chr2:47783214
| MSH6 | | Hereditary cancer-predisposing syndrome | Likely benign (Apr 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010354
- GRCh38:
- Chr2:47783215
| MSH6 | | not specified, Hereditary cancer-predisposing syndrome | Likely benign (Jul 24, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010355
- GRCh38:
- Chr2:47783216
| MSH6 | | not specified, not provided, Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer | Conflicting interpretations of pathogenicity (Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010356
- GRCh38:
- Chr2:47783217
| MSH6 | | not specified | Conflicting interpretations of pathogenicity (Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010356
- GRCh38:
- Chr2:47783217
| MSH6 | | Hereditary cancer-predisposing syndrome, not specified | Likely benign (Sep 25, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010357
- GRCh38:
- Chr2:47783218
| MSH6 | | Hereditary cancer-predisposing syndrome | Likely benign (Apr 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010357
- GRCh38:
- Chr2:47783218
| MSH6 | | Hereditary cancer-predisposing syndrome, not specified | Conflicting interpretations of pathogenicity (Aug 3, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010359
- GRCh38:
- Chr2:47783220
| MSH6 | | not specified, Hereditary cancer-predisposing syndrome | Likely benign (Sep 1, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010360
- GRCh38:
- Chr2:47783221
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010360
- GRCh38:
- Chr2:47783221
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010361
- GRCh38:
- Chr2:47783222
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Apr 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010361
- GRCh38:
- Chr2:47783222
| MSH6 | | Hereditary cancer-predisposing syndrome, not specified | Conflicting interpretations of pathogenicity (Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010362
- GRCh38:
- Chr2:47783223
| MSH6 | | Malignant tumor of breast | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr2:48010362-48010363
- GRCh38:
- Chr2:47783223-47783224
| MSH6 | | not provided, Hereditary cancer-predisposing syndrome | Likely benign (Apr 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010362
- GRCh38:
- Chr2:47783223
| MSH6 | | Hereditary cancer-predisposing syndrome | Likely benign (Dec 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48010642
- GRCh38:
- Chr2:47783224-47783503
| LOC129933707, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Mar 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48018272
- GRCh38:
- Chr2:47783224-47791133
| LOC129933707, LOC129933708, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Aug 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48034009
- GRCh38:
- Chr2:47783224-47806870
| LOC129933707, LOC129933708, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Jul 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48010642
- GRCh38:
- Chr2:47783224-47783503
| LOC129933707, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48034009
- GRCh38:
- Chr2:47783224-47806870
| LOC129933707, LOC129933708, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (May 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010363-48018272
- GRCh38:
- Chr2:47783224-47791133
| LOC129933707, LOC129933708, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (May 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010364
- GRCh38:
- Chr2:47783225
| MSH6 | | not specified, Hereditary cancer-predisposing syndrome | Uncertain significance (Oct 8, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010365
- GRCh38:
- Chr2:47783226
| MSH6 | | not provided, not specified, Lynch syndrome 5, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity (Jul 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010366
- GRCh38:
- Chr2:47783227
| MSH6 | | not specified, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity (Aug 9, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010367
- GRCh38:
- Chr2:47783228
| MSH6 | | not provided, Hereditary cancer-predisposing syndrome | Uncertain significance (Oct 29, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010367-48034005
- GRCh38:
- Chr2:47783228-47806866
| LOC129933707, LOC129933708, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Sep 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010367-48034005
- GRCh38:
- Chr2:47783228-47806866
| LOC129933707, LOC129933708, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Feb 11, 2018) | criteria provided, single submitter |
| - GRCh38:
- Chr2:47783228-47805033
| LOC129933707, LOC129933708, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Aug 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010367-48018268
- GRCh38:
- Chr2:47783228-47791129
| LOC129933708, LOC129933707, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Aug 18, 2017) | criteria provided, single submitter |
| - GRCh38:
- Chr2:47783228-47783499
| LOC129933707, MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Pathogenic (Jan 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010367
- GRCh38:
- Chr2:47783228
| MSH6 | | Hereditary cancer-predisposing syndrome, not provided, not specified, Lynch syndrome 5 | Conflicting interpretations of pathogenicity (Apr 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010367
- GRCh38:
- Chr2:47783228
| MSH6 | | not specified, Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome 5 | Benign/Likely benign (Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010368
- GRCh38:
- Chr2:47783229
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010369-48010415
- GRCh38:
- Chr2:47783230-47783276
| MSH6 | M1fs | Hereditary cancer-predisposing syndrome | Pathogenic (Dec 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010369-48010631
- GRCh38:
- Chr2:47783230-47783492
| LOC129933707, MSH6 | | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr2:48010369
- GRCh38:
- Chr2:47783230
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010369
- GRCh38:
- Chr2:47783230
| MSH6 | | Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010369
- GRCh38:
- Chr2:47783230
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (May 31, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010370
- GRCh38:
- Chr2:47783231
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010370
- GRCh38:
- Chr2:47783231
| MSH6 | | Hereditary cancer-predisposing syndrome | Uncertain significance (Apr 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010371-48014019
- GRCh38:
- Chr2:47783232-47786880
| LOC129933708, LOC129933707, MSH6 | | Carcinoma of colon | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:48010371-48014456
- GRCh38:
- Chr2:47783232-47787317
| LOC129933707, LOC129933708, MSH6 | | not provided | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:48010371
- GRCh38:
- Chr2:47783232
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, not provided, Lynch syndrome | Conflicting interpretations of pathogenicity (Mar 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010372-48010378
- GRCh38:
- Chr2:47783233-47783239
| MSH6 | | Hereditary cancer-predisposing syndrome | Pathogenic (Oct 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010372
- GRCh38:
- Chr2:47783233
| MSH6 | | not specified, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity (Jul 24, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010372-48018262
- GRCh38:
- Chr2:47783233-47791123
| LOC129933707, LOC129933708, MSH6 | | Lynch syndrome | Pathogenic (May 28, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010373
- GRCh38:
- Chr2:47783234
| MSH6 | M1V | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010374
- GRCh38:
- Chr2:47783235
| MSH6 | M1T | Hereditary nonpolyposis colorectal neoplasms | Likely pathogenic (Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010375
- GRCh38:
- Chr2:47783236
| MSH6 | M1I | Hereditary cancer-predisposing syndrome | Pathogenic (Jul 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48010375
- GRCh38:
- Chr2:47783236
| MSH6 | M1fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity (Jul 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48010375
- GRCh38:
- Chr2:47783236
| MSH6 | M1I | Lynch syndrome | Likely pathogenic (Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr2:48010377
- GRCh38:
- Chr2:47783238
| MSH6 | S2L | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Uncertain significance (Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010378
- GRCh38:
- Chr2:47783239
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms | Likely benign (Jan 10, 2022) | criteria provided, single submitter |
| |