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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:66097-55797773
GRCh38:
Chr2:66097-55570637
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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, 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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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, LOC122787130, LOC122787131, LOC122787132, LOC122787133, LOC122787134, LOC122787135, LOC122787136, LOC122787137, LOC122787138, LOC122787139, LOC122787140, LOC122787141, LOC122787142, LOC122787143, LOC122787144, LOC122787145, LOC122787146, LOC122787147, LOC122787148, LOC126264115, LOC126806123, LOC126806124, LOC126806125, LOC126806126, LOC126806127, LOC126806128, LOC126806129, LOC126806130, LOC126806131, LOC126806132, LOC126806133, LOC126806134, LOC126806135, LOC126806136, LOC126806137, LOC126806138, LOC126806139, LOC126806140, LOC126806141, LOC126806142, LOC126806143, LOC126806144, LOC126806145, LOC126806146, LOC126806147, LOC126806148, LOC126806149, LOC126806150, LOC126806151, LOC126806152, LOC126806153, LOC126806154, LOC126806155, LOC126806156, LOC126806157, LOC126806158, LOC126806159, LOC126806160, LOC126806161, LOC126806162, LOC126806163, LOC126806164, LOC126806165, LOC126806166, LOC126806167, LOC126806168, LOC126806169, LOC126806170, LOC126806171, LOC126806172, LOC126806173, LOC126806174, LOC126806175, LOC126806176, LOC126806177, LOC126806178, LOC126806179, LOC126806180, LOC126806181, LOC126806182, LOC126806183, LOC126806184, LOC126806185, LOC126806186, LOC126806187, LOC126806188, LOC126806189, LOC126806190, LOC126806191, LOC126806192, LOC126806193, LOC126806194, LOC126806195, LOC126806196, LOC126806197, LOC126806198, LOC126806199, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC126806222, LOC126806223, LOC126806224, LOC126806225, LOC126806226, LOC126806227, LOC126806228, LOC126806229, LOC126806230, LOC126806231, LOC126806232, LOC126806233, LOC126806234, LOC126806235, LOC126806236, LOC126806237, LOC126806238, LOC126806239, LOC126806240, LOC126806241, LOC126806242, LOC126806243, LOC126806244, 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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 casesBenign
(Feb 4, 2013)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr2:46642248-48430346
GRCh38:
Chr2:46415109-48203207
See casesUncertain significance
(Jul 10, 2013)
no assertion criteria provided
5.
GRCh37:
Chr2:46819371-47715140
GRCh38:
Chr2:46592232-47488001
See casesLikely benign
(Jun 3, 2011)
no assertion criteria provided
6.
GRCh37:
Chr2:47033357-50792676
GRCh38:
Chr2:46806218-50565538
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
7.
GRCh37:
Chr2:47316802-48706820
GRCh38:
Chr2:47089663-48479681
See casesLikely pathogenic
(Oct 10, 2011)
no assertion criteria provided
8.
GRCh37:
Chr2:47433147-47827310
GRCh38:
Chr2:47206008-47600171
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr2:47596635-47643578
GRCh38:
Chr2:47369496-47416439
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(May 24, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr2:47596635-47710098
GRCh38:
Chr2:47369496-47482959
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Dec 9, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr2:47596635-47657090
GRCh38:
Chr2:47369496-47429951
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Dec 4, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr2:47596635-48034009
GRCh38:
Chr2:47369496-47806870
Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Aug 22, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr2:47596635-47669575
GRCh38:
Chr2:47369496-47442436
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Dec 20, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr2:47596635-47653277
GRCh38:
Chr2:47369496-47426138
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Mar 28, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr2:47596635-47698211
GRCh38:
Chr2:47369496-47471072
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Sep 16, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr2:47596635-47637521
GRCh38:
Chr2:47369496-47410382
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Apr 26, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr2:47596635-47672806
GRCh38:
Chr2:47369496-47445667
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Jun 26, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr2:47596635-47630551
GRCh38:
Chr2:47369496-47403412
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(May 19, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr2:47596635-47710098
GRCh38:
Chr2:47369496-47482959
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Dec 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr2:47596639-47657086
GRCh38:
Chr2:47369500-47429947
LOC129933695, MIR559, EPCAM, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Oct 29, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr2:47596639-47672802
GRCh38:
Chr2:47369500-47445663
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Dec 21, 2017)
criteria provided, single submitter
22.
GRCh38:
Chr2:47369500-47416435
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(May 17, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr2:47600592-47643578
GRCh38:
Chr2:47373453-47416439
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Sep 19, 2018)
criteria provided, single submitter
24.
GRCh38:
Chr2:47373457-47412566
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Apr 11, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr2:47604143-47657090
GRCh38:
Chr2:47377004-47429951
LOC129933695, MIR559, EPCAM, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Dec 10, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr2:47604147-47637517
GRCh38:
Chr2:47377008-47410378
EPCAM, LOC129933695, MIR559, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Nov 3, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr2:47606898-47710098
GRCh38:
Chr2:47379759-47482959
EPCAM, LOC129933695, MSH2Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(May 11, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr2:47612299-47630547
GRCh38:
Chr2:47385160-47403408
EPCAM, LOC129933695, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Oct 24, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr2:47612299-47710094
GRCh38:
Chr2:47385160-47482955
EPCAM, LOC129933695, MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Mar 18, 2019)
criteria provided, single submitter
30.
GRCh37:
Chr2:47625602-47636880
GRCh38:
Chr2:47398463-47409741
LOC129933695, MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
31.
GRCh37:
Chr2:47628578-47638433
GRCh38:
Chr2:47401439-47411294
LOC129933695, MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
32.
GRCh37:
Chr2:47628886-47630424
GRCh38:
Chr2:47401747-47403285
LOC129933695, MSH2Hereditary cancer-predisposing syndromeLikely pathogenic
(Sep 14, 2023)
criteria provided, single submitter
33.
GRCh37:
Chr2:47628886-47630425
GRCh38:
Chr2:47401747-47403286
LOC129933695, MSH2Hereditary nonpolyposis colorectal neoplasmsLikely pathogenic
(Aug 4, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr2:47629375-47651274
GRCh38:
Chr2:47402236-47424135
LOC129933695, MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
35.
GRCh37:
Chr2:47629508-47649552
GRCh38:
Chr2:47402369-47422413
LOC129933695, MSH2Lynch syndromePathogenic
(Sep 5, 2013)
reviewed by expert panel
36.
GRCh37:
Chr2:47629898
GRCh38:
Chr2:47402759
MSH2Lynch syndromeBenign
(Sep 5, 2013)
reviewed by expert panel
37.
GRCh37:
Chr2:47629926
GRCh38:
Chr2:47402787
MSH2not providedLikely benign
(Jul 9, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr2:47630010-47630020
GRCh38:
Chr2:47402871-47402881
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Nov 11, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr2:47630013-47630014
GRCh38:
Chr2:47402874-47402875
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jun 26, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr2:47630013
GRCh38:
Chr2:47402874
LOC129933695, MSH2Hereditary cancer-predisposing syndromeLikely benign
(Dec 28, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:47630014
GRCh38:
Chr2:47402875
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 12, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr2:47630014
GRCh38:
Chr2:47402875
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 29, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr2:47630015
GRCh38:
Chr2:47402876
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 2, 2020)
criteria provided, single submitter
44.
GRCh37:
Chr2:47630015
GRCh38:
Chr2:47402876
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 10, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr2:47630016
GRCh38:
Chr2:47402877
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 8, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr2:47630017
GRCh38:
Chr2:47402878
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 20, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr2:47630017
GRCh38:
Chr2:47402878
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Nov 2, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr2:47630018
GRCh38:
Chr2:47402879
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(May 30, 2019)
criteria provided, single submitter
49.
GRCh37:
Chr2:47630018
GRCh38:
Chr2:47402879
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jul 17, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr2:47630019
GRCh38:
Chr2:47402880
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(May 1, 2020)
criteria provided, single submitter
51.
GRCh37:
Chr2:47630021
GRCh38:
Chr2:47402882
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 30, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr2:47630022
GRCh38:
Chr2:47402883
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 2, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr2:47630023
GRCh38:
Chr2:47402884
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 20, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr2:47630023
GRCh38:
Chr2:47402884
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(May 17, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr2:47630024
GRCh38:
Chr2:47402885
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 26, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr2:47630026
GRCh38:
Chr2:47402887
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Aug 9, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr2:47630027
GRCh38:
Chr2:47402888
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(May 3, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr2:47630029
GRCh38:
Chr2:47402890
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 30, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr2:47630029
GRCh38:
Chr2:47402890
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 20, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr2:47630029
GRCh38:
Chr2:47402890
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(May 22, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr2:47630030
GRCh38:
Chr2:47402891
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(May 14, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr2:47630031
GRCh38:
Chr2:47402892
LOC129933695, MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Mar 20, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr2:47630032
GRCh38:
Chr2:47402893
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 24, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr2:47630032
GRCh38:
Chr2:47402893
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Sep 25, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr2:47630035
GRCh38:
Chr2:47402896
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 14, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr2:47630035
GRCh38:
Chr2:47402896
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 21, 2015)
criteria provided, single submitter
67.
GRCh37:
Chr2:47630037
GRCh38:
Chr2:47402898
MSH2Hereditary cancer-predisposing syndromeLikely benign
(Jan 30, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr2:47630038
GRCh38:
Chr2:47402899
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 31, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr2:47630039
GRCh38:
Chr2:47402900
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Apr 29, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr2:47630039
GRCh38:
Chr2:47402900
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 29, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr2:47630040
GRCh38:
Chr2:47402901
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Mar 1, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr2:47630041-47630042
GRCh38:
Chr2:47402902-47402903
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Sep 27, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr2:47630042
GRCh38:
Chr2:47402903
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(May 30, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr2:47630042
GRCh38:
Chr2:47402903
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Mar 19, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr2:47630045
GRCh38:
Chr2:47402906
MSH2Hereditary cancer-predisposing syndromeLikely benign
(Jun 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr2:47630046
GRCh38:
Chr2:47402907
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2019)
criteria provided, single submitter
77.
GRCh37:
Chr2:47630049-47630051
GRCh38:
Chr2:47402910-47402912
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jun 7, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr2:47630050
GRCh38:
Chr2:47402911
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Mar 5, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr2:47630050
GRCh38:
Chr2:47402911
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Mar 31, 2020)
criteria provided, single submitter
80.
GRCh37:
Chr2:47630050
GRCh38:
Chr2:47402911
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 31, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr2:47630051
GRCh38:
Chr2:47402912
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 22, 2015)
criteria provided, single submitter
82.
GRCh37:
Chr2:47630052
GRCh38:
Chr2:47402913
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 21, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr2:47630052
GRCh38:
Chr2:47402913
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Jul 31, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr2:47630054
GRCh38:
Chr2:47402915
MSH2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 22, 2019)
criteria provided, single submitter
85.