| - GRCh37:
- Chr1:73895566-73895579
- Chr6:157292076-157292079
| ARID1B | | not provided | Pathogenic (Feb 2, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr6:133858409-166289033
- GRCh38:
- Chr6:133537271-165875545
| LOC129997469, LOC129997470, LOC129997471, LOC129997472, LOC129997473, LOC129997474, LOC129997475, LOC129997476, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC129997592, LOC129997593, LOC129997594, LOC129997595, LOC129997596, LOC129997597, LOC129997598, LOC129997599, LOC129997600, LOC129997601, LOC129997602, LOC129997603, LOC129997604, LOC129997605, LOC129997606, LOC129997607, LOC129997608, LOC129997609, LOC129997610, LOC129997611, LOC129997612, LOC129997613, LOC129997614, LOC129997615, LOC129997616, LOC129997617, LOC129997618, LOC129997619, LOC129997620, LOC129997621, LOC129997622, LOC129997623, LOC129997624, LOC129997625, LOC129997626, LOC129997627, LOC129997628, LOC129997629, LOC129997630, LOC129997631, LOC129997632, LOC129997633, LOC129997634, LOC129997635, LOC129997636, LOC129997637, LOC129997638, LOC129997639, LOC129997640, LOC129997641, LOC129997642, LOC129997643, LOC129997644, LOC129997645, LOC129997646, LOC129997647, LOC129997648, LOC129997649, LOC132089345, LOC132089346, LOC132089347, LOC132089348, LOC132089349, LOC132089350, LOC132089351, LOC132089352, LOC132089353, LOC132089354, LOC132089355, LOC132089356, LOC132089357, LOC132089358, LOC132089359, LOC132089360, LOC132089361, LOC132089362, LOC132089363, LOC132089364, LOC132089365, LOC132089366, LOC132089367, LOC132089368, LOC132089369, LOC132089370, LOC132089371, LOC132089372, LOC132089373, LOC132089374, LOC132089375, LOC132089376, LOC132089377, LOC132090769, LOC132090770, LOC132090771, LOC132090772, LOC132090773, LOC153910, LOC645967, LPA, LRP11, LTV1, LUADT1, MAP3K4, MAP3K4-AS1, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP7, MAP7-AS1, MAS1, MEAT6, MIR1202, MIR12131, MIR1273C, MIR3145, MIR3662, MIR3668, MIR3692, MIR3918, MIR4465, MIR4466, MIR548A2, MIR7161, MRPL18, MTFR2, MTHFD1L, MTRF1L, MYB, MYCT1, NHEG1, NHSL1, NHSL1-AS1, NMBR, NOX3, NUP43, OLIG3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PBOV1, PCMT1, PDE10A, PDE7B, PDE7B-AS1, PERP, PEX3, PEX7, PHACTR2, PHACTR2-AS1, PLAGL1, PLEKHG1, PLG, PNLDC1, PPIL4, PPP1R14C, PRKN, QKI, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, REPS1, RGS17, RMND1, RSPH3, SAMD5, SASH1, SCAF8, SERAC1, SF3B5, SGK1, SHPRH, SIMALR, SLC22A1, SLC22A2, SLC22A3, SLC2A12, SLC35D3, SMIM28, SNORA116, SNORA20, SNORA29, SNORA98, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, STX11, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAB2, TAB2-AS1, TAGAP, TAGAP-AS1, TARID, TBPL1, TCF21, TCP1, TFB1M, TIAM2, TMEM181, TMEM242, TMEM242-DT, TNFAIP3, TRL-TAA1-1, TRQ-TTG4-1, TULP4, TXLNB, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, UTRN, VIP, VTA1, WAKMAR2, WTAP, ZBTB2, ZC2HC1B, ZC3H12D, ZDHHC14, LOC121740669, LOC121740670, LOC121740671, LOC121740672, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC123864087, LOC123864088, LOC123864089, LOC123864090, LOC123864091, LOC123864092, LOC123864093, LOC123864094, LOC123864095, LOC123864096, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC124900217, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC126859812, LOC126859813, LOC126859814, LOC126859815, LOC126859816, LOC126859817, LOC126859818, LOC126859819, LOC126859820, LOC126859821, LOC126859822, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC128092253, LOC128669075, LOC129389648, LOC129389649, LOC129389650, LOC129389651, LOC129389652, LOC129389653, LOC129389654, LOC129389655, LOC129389656, LOC129389657, LOC129389658, LOC129389659, LOC129389660, LOC129389661, LOC129389662, LOC129389663, LOC129389664, LOC129389665, LOC129389666, LOC129389667, LOC129389668, LOC129389669, LOC129389670, LOC129389671, LOC129389672, LOC129389673, LOC129389674, LOC129389675, LOC129389676, LOC129389677, LOC129389678, LOC129389679, LOC129389680, LOC129389681, LOC129389682, LOC129389683, LOC129389684, LOC129389685, LOC129389686, LOC129389687, LOC129389688, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129389709, LOC129389710, LOC129389711, LOC129389712, LOC129389713, LOC129389714, LOC129389715, LOC129389716, LOC129389717, LOC129389718, LOC129997185, LOC129997186, LOC129997187, LOC129997188, LOC129997189, LOC129997190, LOC129997191, LOC129997192, LOC129997193, LOC129997194, LOC129997195, LOC129997196, LOC129997197, LOC129997198, LOC129997199, LOC129997200, LOC129997201, LOC129997202, LOC129997203, LOC129997204, LOC129997205, LOC129997206, LOC129997207, LOC129997208, LOC129997209, LOC129997210, LOC129997211, LOC129997212, LOC129997213, LOC129997214, LOC129997215, LOC129997216, LOC129997217, LOC129997218, LOC129997219, LOC129997220, LOC129997221, LOC129997222, LOC129997223, LOC129997224, LOC129997225, LOC129997226, LOC129997227, LOC129997228, LOC129997229, LOC129997230, LOC129997231, LOC129997232, LOC129997233, LOC129997234, LOC129997235, LOC129997236, LOC129997237, LOC129997238, LOC129997239, LOC129997240, LOC129997241, LOC129997242, LOC129997243, LOC129997244, LOC129997245, LOC129997246, LOC129997247, LOC129997248, LOC129997249, LOC129997250, LOC129997251, LOC129997252, LOC129997253, LOC129997254, LOC129997255, LOC129997256, LOC129997257, LOC129997258, LOC129997259, LOC129997260, LOC129997261, LOC129997262, LOC129997263, LOC129997264, LOC129997265, LOC129997266, LOC129997267, LOC129997268, LOC129997269, LOC129997270, LOC129997271, LOC129997272, LOC129997273, LOC129997274, LOC129997275, LOC129997276, LOC129997277, LOC129997278, LOC129997279, LOC129997280, LOC129997281, LOC129997282, LOC129997283, LOC129997284, LOC129997285, LOC129997286, LOC129997287, LOC129997288, LOC129997289, LOC129997290, LOC129997291, LOC129997292, LOC129997293, LOC129997294, LOC129997295, LOC129997296, LOC129997297, LOC129997298, LOC129997299, LOC129997300, LOC129997301, LOC129997302, LOC129997303, LOC129997304, LOC129997305, LOC129997306, LOC129997307, LOC129997308, LOC129997309, LOC129997310, LOC129997311, LOC129997312, LOC129997313, LOC129997314, LOC129997315, LOC129997316, LOC129997317, LOC129997318, LOC129997319, LOC129997320, LOC129997321, LOC129997322, LOC129997323, LOC129997324, LOC129997325, LOC129997326, LOC129997327, LOC129997328, LOC129997329, LOC129997330, LOC129997331, LOC129997332, LOC129997333, LOC129997334, LOC129997335, LOC129997336, LOC129997337, LOC129997338, LOC129997339, LOC129997340, LOC129997341, LOC129997342, LOC129997343, LOC129997344, LOC129997345, LOC129997346, LOC129997347, LOC129997348, LOC129997349, LOC129997350, LOC129997351, LOC129997352, LOC129997353, LOC129997354, LOC129997355, LOC129997356, LOC129997357, LOC129997358, LOC129997359, LOC129997360, LOC129997361, LOC129997362, LOC129997363, LOC129997364, LOC129997365, LOC129997366, LOC129997367, LOC129997368, LOC129997369, LOC129997370, LOC129997371, LOC129997372, LOC129997373, LOC129997374, LOC129997375, LOC129997376, LOC129997377, LOC129997378, LOC129997379, LOC129997380, LOC129997381, LOC129997382, LOC129997383, LOC129997384, LOC129997385, LOC129997386, LOC129997387, LOC129997388, LOC129997389, LOC129997390, LOC129997391, LOC129997392, LOC129997393, LOC129997394, LOC129997395, LOC129997396, LOC129997397, LOC129997398, LOC129997399, LOC129997400, LOC129997401, LOC129997402, LOC129997403, LOC129997404, LOC129997405, LOC129997406, LOC129997407, LOC129997408, LOC129997409, LOC129997410, LOC129997411, LOC129997412, LOC129997413, LOC129997414, LOC129997415, LOC129997416, LOC129997417, LOC129997418, LOC129997419, LOC129997420, LOC129997421, LOC129997422, LOC129997423, LOC129997424, LOC129997425, LOC129997426, LOC129997427, LOC129997428, LOC129997429, LOC129997430, LOC129997431, LOC129997432, LOC129997433, LOC129997434, LOC129997435, LOC129997436, LOC129997437, LOC129997438, LOC129997439, LOC129997440, LOC129997441, LOC129997442, LOC129997443, LOC129997444, LOC129997445, LOC129997446, LOC129997447, LOC129997448, LOC129997449, LOC129997450, LOC129997451, LOC129997452, LOC129997453, LOC129997454, LOC129997455, LOC129997456, LOC129997457, LOC129997458, LOC129997459, LOC129997460, LOC129997461, LOC129997462, LOC129997463, LOC129997464, LOC129997465, LOC129997466, LOC129997467, LOC129997468, ABRACL, ACAT2, ADAT2, ADGB, ADGB-DT, ADGRG6, AGPAT4, AGPAT4-IT1, AHI1, AHI1-DT, AIG1, AIRN, AKAP12, ALDH8A1, ARFGEF3, ARID1B, ARMT1, BCLAF1, C6orf118, CAHM, CCDC170, CCDC28A, CCDC28A-AS1, CITED2, CLDN20, CNKSR3, CT69, DKFZp451B082, DYNLT1, ECT2L, EPM2A, EPM2A-DT, ESR1, EZR, EZR-AS1, FBXO30, FBXO5, FILNC1, FNDC1, FNDC1-AS1, FNDC1-IT1, FUCA2, GINM1, GJE1, GRM1, GTF2H5, HBS1L, HEBP2, HECA, HIVEP2, HYMAI, IFNGR1, IGF2R, IL20RA, IL22RA2, IPCEF1, IYD, KATNA1, LATS1, LINC01010, LINC01277, LINC01312, LINC01625, LINC02524, LINC02529, LINC02539, LINC02840, LINC02865, LINC02901, LINC02919, LINC02941, LINC03002, LINC03004, LOC101928373, LOC102723690, LOC102723831, LOC102724087, LOC102724152, LOC103352541, LOC105378052, LOC105378066, LOC105378068, LOC105378073, LOC105378098, LOC107403234, LOC108169207, LOC108281144, LOC108348020, LOC110121073, LOC110121075, LOC110121174, LOC110121225, LOC110121231, LOC111413038, LOC111413040, LOC111589214, LOC111828525, LOC111828526, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113146419, LOC113146422, LOC113146423, LOC113146426, LOC113174971, LOC113174972, LOC113174973, LOC114004398, LOC114827845, LOC115308161, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC116183075, LOC116183076, LOC116183077, LOC121132708, LOC121132709, LOC121132710, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121740667, LOC121740668 | | See cases | Pathogenic (Jun 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:141454127-169739666
- GRCh38:
- Chr6:141132990-169339571
| ACAT2, ADAT2, ADGB, ADGB-DT, ADGRG6, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIG1, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, CAHM, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DKFZp451B082, DYNLT1, EPM2A, EPM2A-DT, ESR1, EZR, EZR-AS1, FBXO30, FBXO5, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, FUCA2, GINM1, GJE1, GPR31, GRM1, GTF2H5, HGC6.3, HIVEP2, HPAT5, HYMAI, IGF2R, IPCEF1, IYD, KATNA1, KIF25, KIF25-AS1, LATS1, LINC00473, LINC00602, LINC01277, LINC01558, LINC01615, LINC02487, LINC02529, LINC02538, LINC02544, LINC02840, LINC02901, LINC02919, LNCDAT, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102723831, LOC102724087, LOC102724152, LOC102724220, LOC102724357, LOC102725048, LOC105378052, LOC105378066, LOC105378068, LOC105378073, LOC105378098, LOC105378120, LOC105378123, LOC105378127, LOC105378130, LOC105378137, LOC105378146, LOC107403234, LOC108254680, LOC108348020, LOC110121075, LOC110121225, LOC110121231, LOC111828525, LOC111828526, LOC113146419, LOC113146422, LOC113146423, LOC113146426, LOC113174971, LOC113174972, LOC113174973, LOC114004398, LOC114827845, LOC115308161, LOC116183075, LOC116183076, LOC116183077, LOC116183078, LOC121132709, LOC121132710, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740668, LOC121740669, LOC121740670, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123864087, LOC123864088, LOC123864089, LOC123864090, LOC123864091, LOC123864092, LOC123864093, LOC123864094, LOC123864095, LOC123864096, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC126859812, LOC126859813, LOC126859814, LOC126859815, LOC126859816, LOC126859817, LOC126859818, LOC126859819, LOC126859820, LOC126859821, LOC126859822, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC129389663, LOC129389664, LOC129389665, LOC129389666, LOC129389667, LOC129389668, LOC129389669, LOC129389670, LOC129389671, LOC129389672, LOC129389673, LOC129389674, LOC129389675, LOC129389676, LOC129389677, LOC129389678, LOC129389679, LOC129389680, LOC129389681, LOC129389682, LOC129389683, LOC129389684, LOC129389685, LOC129389686, LOC129389687, LOC129389688, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129389709, LOC129389710, LOC129389711, LOC129389712, LOC129389713, LOC129389714, LOC129389715, LOC129389716, LOC129389717, LOC129389718, LOC129389719, LOC129389720, LOC129389721, LOC129389722, LOC129389723, LOC129389724, LOC129997315, LOC129997316, LOC129997317, LOC129997318, LOC129997319, LOC129997320, LOC129997321, LOC129997322, LOC129997323, LOC129997324, LOC129997325, LOC129997326, LOC129997327, LOC129997328, LOC129997329, LOC129997330, LOC129997331, LOC129997332, LOC129997333, LOC129997334, LOC129997335, LOC129997336, LOC129997337, LOC129997338, LOC129997339, LOC129997340, LOC129997341, LOC129997342, LOC129997343, LOC129997344, LOC129997345, LOC129997346, LOC129997347, LOC129997348, LOC129997349, LOC129997350, LOC129997351, LOC129997352, LOC129997353, LOC129997354, LOC129997355, LOC129997356, LOC129997357, LOC129997358, LOC129997359, LOC129997360, LOC129997361, LOC129997362, LOC129997363, LOC129997364, LOC129997365, LOC129997366, LOC129997367, LOC129997368, LOC129997369, LOC129997370, LOC129997371, LOC129997372, LOC129997373, LOC129997374, LOC129997375, LOC129997376, LOC129997377, LOC129997378, LOC129997379, LOC129997380, LOC129997381, LOC129997382, LOC129997383, LOC129997384, LOC129997385, LOC129997386, LOC129997387, LOC129997388, LOC129997389, LOC129997390, LOC129997391, LOC129997392, LOC129997393, LOC129997394, LOC129997395, LOC129997396, LOC129997397, LOC129997398, LOC129997399, LOC129997400, LOC129997401, LOC129997402, LOC129997403, LOC129997404, LOC129997405, LOC129997406, LOC129997407, LOC129997408, LOC129997409, LOC129997410, LOC129997411, LOC129997412, LOC129997413, LOC129997414, LOC129997415, LOC129997416, LOC129997417, LOC129997418, LOC129997419, LOC129997420, LOC129997421, LOC129997422, LOC129997423, LOC129997424, LOC129997425, LOC129997426, LOC129997427, LOC129997428, LOC129997429, LOC129997430, LOC129997431, LOC129997432, LOC129997433, LOC129997434, LOC129997435, LOC129997436, LOC129997437, LOC129997438, LOC129997439, LOC129997440, LOC129997441, LOC129997442, LOC129997443, LOC129997444, LOC129997445, LOC129997446, LOC129997447, LOC129997448, LOC129997449, LOC129997450, LOC129997451, LOC129997452, LOC129997453, LOC129997454, LOC129997455, LOC129997456, LOC129997457, LOC129997458, LOC129997459, LOC129997460, LOC129997461, LOC129997462, LOC129997463, LOC129997464, LOC129997465, LOC129997466, LOC129997467, LOC129997468, LOC129997469, LOC129997470, LOC129997471, LOC129997472, LOC129997473, LOC129997474, LOC129997475, LOC129997476, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC129997592, LOC129997593, LOC129997594, LOC129997595, LOC129997596, LOC129997597, LOC129997598, LOC129997599, LOC129997600, LOC129997601, LOC129997602, LOC129997603, LOC129997604, LOC129997605, LOC129997606, LOC129997607, LOC129997608, LOC129997609, LOC129997610, LOC129997611, LOC129997612, LOC129997613, LOC129997614, LOC129997615, LOC129997616, LOC129997617, LOC129997618, LOC129997619, LOC129997620, LOC129997621, LOC129997622, LOC129997623, LOC129997624, LOC129997625, LOC129997626, LOC129997627, LOC129997628, LOC129997629, LOC129997630, LOC129997631, LOC129997632, LOC129997633, LOC129997634, LOC129997635, LOC129997636, LOC129997637, LOC129997638, LOC129997639, LOC129997640, LOC129997641, LOC129997642, LOC129997643, LOC129997644, LOC129997645, LOC129997646, LOC129997647, LOC129997648, LOC129997649, LOC129997650, LOC129997651, LOC129997652, LOC129997653, LOC129997654, LOC129997655, LOC129997656, LOC129997657, LOC129997658, LOC129997659, LOC129997660, LOC129997661, LOC129997662, LOC129997663, LOC129997664, LOC129997665, LOC129997666, LOC129997667, LOC129997668, LOC129997669, LOC129997670, LOC129997671, LOC129997672, LOC129997673, LOC129997674, LOC129997675, LOC129997676, LOC129997677, LOC129997678, LOC129997679, LOC129997680, LOC129997681, LOC129997682, LOC129997683, LOC129997684, LOC129997685, LOC129997686, LOC129997687, LOC129997688, LOC129997689, LOC129997690, LOC129997691, LOC129997692, LOC129997693, LOC129997694, LOC129997695, LOC129997696, LOC129997697, LOC129997698, LOC129997699, LOC129997700, LOC129997701, LOC129997702, LOC129997703, LOC132089371, LOC132089372, LOC132089373, LOC132089374, LOC132089375, LOC132089376, LOC132089377, LOC132089378, LOC132090771, LOC132090772, LOC132090773, LOC132090774, LOC153910, LOC441179, LOC645967, LOC729681, LPA, LRP11, LTV1, LUADT1, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR12131, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR7161, MPC1, MRPL18, MTHFD1L, MTRF1L, MYCT1, NMBR, NOX3, NUP43, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PCMT1, PDE10A, PEX3, PHACTR2, PHACTR2-AS1, PLAGL1, PLEKHG1, PLG, PNLDC1, PPIL4, PPP1R14C, PRKN, PRR18, QKI, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, RAMACL, RGS17, RMND1, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SAMD5, SASH1, SCAF8, SDIM1, SERAC1, SF3B5, SFT2D1, SHPRH, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORA98, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, STX11, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAB2, TAB2-AS1, TAGAP, TAGAP-AS1, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TMEM242-DT, TRL-TAA1-1, TRQ-TTG4-1, TTLL2, TULP4, ULBP1, ULBP2, ULBP3, UNC93A, UST, UST-AS1, UST-AS2, UTRN, VIP, VTA1, WTAP, ZBTB2, ZC2HC1B, ZC3H12D, ZDHHC14 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:150702375-159974984
- GRCh38:
- Chr6:150381239-159553952
| LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC121132712, LOC121740671, LOC121740672, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC129389688, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129389709, LOC129389710, LOC129389711, LOC129997454, LOC129997455, LOC129997456, LOC129997457, LOC129997458, LOC129997459, LOC129997460, LOC129997461, LOC129997462, LOC129997463, LOC129997464, LOC129997465, LOC129997466, LOC129997467, LOC129997468, LOC129997469, LOC129997470, LOC129997471, LOC129997472, LOC129997473, LOC129997474, LOC129997475, LOC129997476, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC129997592, LOC129997593, LOC129997594, LOC129997595, LOC129997596, LOC129997597, LOC129997598, LOC129997599, LOC132089374, LOC132089375, LOC132090771, MIR1202, MIR12131, MIR1273C, MIR3692, MIR3918, MIR4466, MIR7161, MTHFD1L, MTRF1L, MYCT1, NOX3, OPRM1, PLEKHG1, RGS17, RMND1, RSPH3, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SNX9-AS1, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TFB1M, TIAM2, TMEM181, TMEM242, TMEM242-DT, TULP4, VIP, ZBTB2, ZDHHC14, AKAP12, ARID1B, ARMT1, CCDC170, CLDN20, CNKSR3, DYNLT1, ESR1, EZR, EZR-AS1, FBXO5, FNDC1, FNDC1-AS1, FNDC1-IT1, GTF2H5, IPCEF1, IYD, LINC02529, LINC02840, LINC02901, LOC102723831, LOC105378066, LOC105378068, LOC105378073, LOC108348020, LOC111828526, LOC113146426, LOC114827845 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh38:
- Chr6:150905553-158511926
| LOC123881343, LOC123881344, LOC129997530, LOC129997538, LOC129997533, LOC129997534, LOC129997532, LOC123881345, LOC123881346, LOC126859832, LOC126859833, LOC126859834, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC126859831, LOC129997531, LOC129997535, LOC129997536, LOC129997537, LOC111828526, LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC129389688, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129997467, LOC129997468, LOC129997469, LOC129997470, LOC129997471, LOC129997472, LOC129997473, LOC129997474, LOC129997475, LOC129997476, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC132089374, LOC132089375, LOC132090771, MIR1202, MIR12131, MIR1273C, MIR3692, MIR4466, MTHFD1L, MTRF1L, MYCT1, NOX3, OPRM1, RGS17, RMND1, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SNX9-AS1, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, TFB1M, TIAM2, TMEM242, TMEM242-DT, TULP4, VIP, ZBTB2, ZDHHC14, AKAP12, ARID1B, ARMT1, CCDC170, CLDN20, CNKSR3, ESR1, FBXO5, GTF2H5, IPCEF1, LINC02840, LOC102723831, LOC105378066, LOC105378068, LOC105378073 | | Coffin-Siris syndrome 1 | Pathogenic (Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:152697473-170921089
- GRCh38:
- Chr6:152376338-170612001
| ACAT2, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf118, C6orf120, CAHM, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DKFZp451B082, DLL1, DYNLT1, DYNLT2, ERMARD, EZR, EZR-AS1, FAM120B, FBXO5, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, GPR31, GTF2H5, HGC6.3, HPAT5, IGF2R, IPCEF1, KIF25, KIF25-AS1, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02529, LINC02538, LINC02544, LINC02840, LINC02901, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102724087, LOC102724152, LOC102724220, LOC102724357, LOC102724511, LOC102725048, LOC105378066, LOC105378068, LOC105378073, LOC105378098, LOC105378120, LOC105378123, LOC105378127, LOC105378130, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174971, LOC113174972, LOC113174973, LOC114827845, LOC115308161, LOC116183076, LOC116183077, LOC116183078, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129389709, LOC129389710, LOC129389711, LOC129389712, LOC129389713, LOC129389714, LOC129389715, LOC129389716, LOC129389717, LOC129389718, LOC129389719, LOC129389720, LOC129389721, LOC129389722, LOC129389723, LOC129389724, LOC129389725, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC129997592, LOC129997593, LOC129997594, LOC129997595, LOC129997596, LOC129997597, LOC129997598, LOC129997599, LOC129997600, LOC129997601, LOC129997602, LOC129997603, LOC129997604, LOC129997605, LOC129997606, LOC129997607, LOC129997608, LOC129997609, LOC129997610, LOC129997611, LOC129997612, LOC129997613, LOC129997614, LOC129997615, LOC129997616, LOC129997617, LOC129997618, LOC129997619, LOC129997620, LOC129997621, LOC129997622, LOC129997623, LOC129997624, LOC129997625, LOC129997626, LOC129997627, LOC129997628, LOC129997629, LOC129997630, LOC129997631, LOC129997632, LOC129997633, LOC129997634, LOC129997635, LOC129997636, LOC129997637, LOC129997638, LOC129997639, LOC129997640, LOC129997641, LOC129997642, LOC129997643, LOC129997644, LOC129997645, LOC129997646, LOC129997647, LOC129997648, LOC129997649, LOC129997650, LOC129997651, LOC129997652, LOC129997653, LOC129997654, LOC129997655, LOC129997656, LOC129997657, LOC129997658, LOC129997659, LOC129997660, LOC129997661, LOC129997662, LOC129997663, LOC129997664, LOC129997665, LOC129997666, LOC129997667, LOC129997668, LOC129997669, LOC129997670, LOC129997671, LOC129997672, LOC129997673, LOC129997674, LOC129997675, LOC129997676, LOC129997677, LOC129997678, LOC129997679, LOC129997680, LOC129997681, LOC129997682, LOC129997683, LOC129997684, LOC129997685, LOC129997686, LOC129997687, LOC129997688, LOC129997689, LOC129997690, LOC129997691, LOC129997692, LOC129997693, LOC129997694, LOC129997695, LOC129997696, LOC129997697, LOC129997698, LOC129997699, LOC129997700, LOC129997701, LOC129997702, LOC129997703, LOC129997704, LOC129997705, LOC129997706, LOC129997707, LOC129997708, LOC129997709, LOC129997710, LOC129997711, LOC129997712, LOC129997713, LOC129997714, LOC129997715, LOC129997716, LOC129997717, LOC132089374, LOC132089375, LOC132089376, LOC132089377, LOC132089378, LOC132089379, LOC132090772, LOC132090773, LOC132090774, LOC154449, LOC285804, LOC441179, LOC729681, LPA, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR4644, MIR7161, MPC1, MRPL18, MTRF1L, MYCT1, NOX3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RAMACL, RGS17, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TBP, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TMEM242-DT, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZDHHC14 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:153114537-170919482
- GRCh38:
- Chr6:152793402-170610394
| LOC129997593, LOC129997594, LOC129997595, LOC129997596, LOC129997597, LOC129997598, LOC129997599, LOC129997600, LOC129997601, LOC129997602, LOC129997603, LOC129997604, LOC129997605, LOC129997606, LOC129997607, LOC129997608, LOC129997609, LOC129997610, LOC129997611, LOC129997612, LOC129997613, LOC129997614, LOC129997615, LOC129997616, LOC129997617, LOC129997618, LOC129997619, LOC129997620, LOC129997621, LOC129997622, LOC129997623, LOC129997624, LOC129997625, LOC129997626, LOC129997627, LOC129997628, LOC129997629, LOC129997630, LOC129997631, LOC129997632, LOC129997633, LOC129997634, LOC129997635, LOC129997636, LOC129997637, LOC129997638, LOC129997639, LOC129997640, LOC129997641, LOC129997642, LOC129997643, LOC129997644, LOC129997645, LOC129997646, LOC129997647, LOC129997648, LOC129997649, LOC129997650, LOC129997651, LOC129997652, LOC129997653, LOC129997654, LOC129997655, LOC129997656, LOC129997657, LOC129997658, LOC129997659, LOC129997660, LOC129997661, LOC129997662, LOC129997663, LOC129997664, LOC129997665, LOC129997666, LOC129997667, LOC129997668, LOC129997669, LOC129997670, LOC129997671, LOC129997672, LOC129997673, LOC129997674, LOC129997675, LOC129997676, LOC129997677, LOC129997678, LOC129997679, LOC129997680, LOC129997681, LOC129997682, LOC129997683, LOC129997684, LOC129997685, LOC129997686, LOC129997687, LOC129997688, LOC129997689, LOC129997690, LOC129997691, LOC129997692, LOC129997693, LOC129997694, LOC129997695, LOC129997696, LOC129997697, LOC129997698, LOC129997699, LOC129997700, LOC129997701, LOC129997702, LOC129997703, LOC129997704, LOC129997705, LOC129997706, LOC129997707, LOC129997708, LOC129997709, LOC129997710, LOC129997711, LOC129997712, LOC129997713, LOC129997714, LOC129997715, LOC129997716, LOC129997717, LOC132089374, LOC132089375, LOC132089376, LOC132089377, LOC132089378, LOC132089379, LOC132090772, LOC132090773, LOC132090774, LOC154449, LOC285804, LOC441179, LOC729681, LPA, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR4644, MIR7161, MPC1, MRPL18, MTRF1L, NOX3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RAMACL, RGS17, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TBP, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TMEM242-DT, TTLL2, TULP4, UNC93A, WDR27, WTAP, ZDHHC14, ACAT2, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf118, C6orf120, CAHM, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DKFZp451B082, DLL1, DYNLT1, DYNLT2, ERMARD, EZR, EZR-AS1, FAM120B, FBXO5, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, GPR31, GTF2H5, HGC6.3, HPAT5, IGF2R, IPCEF1, KIF25, KIF25-AS1, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02529, LINC02538, LINC02544, LINC02840, LINC02901, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102724087, LOC102724152, LOC102724220, LOC102724357, LOC102724511, LOC102725048, LOC105378066, LOC105378068, LOC105378073, LOC105378098, LOC105378120, LOC105378123, LOC105378127, LOC105378130, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174971, LOC113174972, LOC113174973, LOC114827845, LOC115308161, LOC116183076, LOC116183077, LOC116183078, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129389709, LOC129389710, LOC129389711, LOC129389712, LOC129389713, LOC129389714, LOC129389715, LOC129389716, LOC129389717, LOC129389718, LOC129389719, LOC129389720, LOC129389721, LOC129389722, LOC129389723, LOC129389724, LOC129389725, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC129997592 | | See cases | Pathogenic (Jul 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr6:154439193-170911240
- GRCh38:
- Chr6:154118058-170602152
| LOC129997707, LOC129997708, LOC129997709, LOC129997710, LOC129997711, LOC129997712, LOC129997713, LOC129997714, LOC129997715, LOC129997716, LOC129997717, LOC132089374, LOC132089375, LOC132089376, LOC132089377, LOC132089378, LOC132089379, LOC132090772, LOC132090773, LOC132090774, LOC154449, LOC285804, LOC441179, LOC729681, LPA, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR4644, MIR7161, MPC1, MRPL18, NOX3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RAMACL, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TBP, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TMEM242-DT, TTLL2, TULP4, UNC93A, WDR27, WTAP, ZDHHC14, ACAT2, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf118, C6orf120, CAHM, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DKFZp451B082, DLL1, DYNLT1, DYNLT2, ERMARD, EZR, EZR-AS1, FAM120B, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, GPR31, GTF2H5, HGC6.3, HPAT5, IGF2R, IPCEF1, KIF25, KIF25-AS1, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02529, LINC02538, LINC02544, LINC02901, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102724087, LOC102724152, LOC102724220, LOC102724357, LOC102724511, LOC102725048, LOC105378068, LOC105378073, LOC105378098, LOC105378120, LOC105378123, LOC105378127, LOC105378130, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174971, LOC113174972, LOC113174973, LOC114827845, LOC115308161, LOC116183076, LOC116183077, LOC116183078, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129389709, LOC129389710, LOC129389711, LOC129389712, LOC129389713, LOC129389714, LOC129389715, LOC129389716, LOC129389717, LOC129389718, LOC129389719, LOC129389720, LOC129389721, LOC129389722, LOC129389723, LOC129389724, LOC129389725, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC129997592, LOC129997593, LOC129997594, LOC129997595, LOC129997596, LOC129997597, LOC129997598, LOC129997599, LOC129997600, LOC129997601, LOC129997602, LOC129997603, LOC129997604, LOC129997605, LOC129997606, LOC129997607, LOC129997608, LOC129997609, LOC129997610, LOC129997611, LOC129997612, LOC129997613, LOC129997614, LOC129997615, LOC129997616, LOC129997617, LOC129997618, LOC129997619, LOC129997620, LOC129997621, LOC129997622, LOC129997623, LOC129997624, LOC129997625, LOC129997626, LOC129997627, LOC129997628, LOC129997629, LOC129997630, LOC129997631, LOC129997632, LOC129997633, LOC129997634, LOC129997635, LOC129997636, LOC129997637, LOC129997638, LOC129997639, LOC129997640, LOC129997641, LOC129997642, LOC129997643, LOC129997644, LOC129997645, LOC129997646, LOC129997647, LOC129997648, LOC129997649, LOC129997650, LOC129997651, LOC129997652, LOC129997653, LOC129997654, LOC129997655, LOC129997656, LOC129997657, LOC129997658, LOC129997659, LOC129997660, LOC129997661, LOC129997662, LOC129997663, LOC129997664, LOC129997665, LOC129997666, LOC129997667, LOC129997668, LOC129997669, LOC129997670, LOC129997671, LOC129997672, LOC129997673, LOC129997674, LOC129997675, LOC129997676, LOC129997677, LOC129997678, LOC129997679, LOC129997680, LOC129997681, LOC129997682, LOC129997683, LOC129997684, LOC129997685, LOC129997686, LOC129997687, LOC129997688, LOC129997689, LOC129997690, LOC129997691, LOC129997692, LOC129997693, LOC129997694, LOC129997695, LOC129997696, LOC129997697, LOC129997698, LOC129997699, LOC129997700, LOC129997701, LOC129997702, LOC129997703, LOC129997704, LOC129997705, LOC129997706 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:154500098-159441401
- GRCh38:
- Chr6:154178964-159020369
| TMEM242, TMEM242-DT, TULP4, ZDHHC14, ARID1B, CLDN20, CNKSR3, DYNLT1, EZR, EZR-AS1, GTF2H5, IPCEF1, LINC02901, LOC105378068, LOC105378073, LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC121132712, LOC121740671, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC132089374, LOC132089375, MIR1202, MIR1273C, MIR3692, MIR3918, MIR4466, MIR7161, NOX3, OPRM1, RSPH3, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SNX9-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP-AS1, TFB1M, TIAM2, TMEM181 | | See cases | Likely pathogenic (Dec 13, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:154860789-171023595
- GRCh38:
- Chr6:154539655-170714507
| LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129389709, LOC129389710, LOC129389711, LOC129389712, LOC129389713, LOC129389714, LOC129389715, LOC129389716, LOC129389717, LOC129389718, LOC129389719, LOC129389720, LOC129389721, LOC129389722, LOC129389723, LOC129389724, LOC129389725, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC129997592, LOC129997593, LOC129997594, LOC129997595, LOC129997596, LOC129997597, LOC129997598, LOC129997599, LOC129997600, LOC129997601, LOC129997602, LOC129997603, LOC129997604, LOC129997605, LOC129997606, LOC129997607, LOC129997608, LOC129997609, LOC129997610, LOC129997611, LOC129997612, LOC129997613, LOC129997614, LOC129997615, LOC129997616, LOC129997617, LOC129997618, LOC129997619, LOC129997620, LOC129997621, LOC129997622, LOC129997623, LOC129997624, LOC129997625, LOC129997626, LOC129997627, LOC129997628, LOC129997629, LOC129997630, LOC129997631, LOC129997632, LOC129997633, LOC129997634, LOC129997635, LOC129997636, LOC129997637, LOC129997638, LOC129997639, LOC129997640, LOC129997641, LOC129997642, LOC129997643, LOC129997644, LOC129997645, LOC129997646, LOC129997647, LOC129997648, LOC129997649, LOC129997650, LOC129997651, LOC129997652, LOC129997653, LOC129997654, LOC129997655, LOC129997656, LOC129997657, LOC129997658, LOC129997659, LOC129997660, LOC129997661, LOC129997662, LOC129997663, LOC129997664, LOC129997665, LOC129997666, LOC129997667, LOC129997668, LOC129997669, LOC129997670, LOC129997671, LOC129997672, LOC129997673, LOC129997674, LOC129997675, LOC129997676, LOC129997677, LOC129997678, LOC129997679, LOC129997680, LOC129997681, LOC129997682, LOC129997683, LOC129997684, LOC129997685, LOC129997686, LOC129997687, LOC129997688, LOC129997689, LOC129997690, LOC129997691, LOC129997692, LOC129997693, LOC129997694, LOC129997695, LOC129997696, LOC129997697, LOC129997698, LOC129997699, LOC129997700, LOC129997701, LOC129997702, LOC129997703, LOC129997704, LOC129997705, LOC129997706, LOC129997707, LOC129997708, LOC129997709, LOC129997710, LOC129997711, LOC129997712, LOC129997713, LOC129997714, LOC129997715, LOC129997716, LOC129997717, LOC132089374, LOC132089375, LOC132089376, LOC132089377, LOC132089378, LOC132089379, LOC132090772, LOC132090773, LOC132090774, LOC154449, LOC285804, LOC441179, LOC729681, LPA, MAP3K4, MAP3K4-AS1, MAS1, MEAT6, MIR1202, MIR1273C, MIR1913, MIR3692, MIR3918, MIR3939, MIR4466, MIR4644, MIR7161, MPC1, MRPL18, NOX3, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RAMACL, RNASET2, RPS6KA2, RPS6KA2-AS1, RPS6KA2-IT1, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TBP, TBXT, TCP1, TFB1M, THBS2, THBS2-AS1, TIAM2, TMEM181, TMEM242, TMEM242-DT, TTLL2, TULP4, UNC93A, WDR27, WTAP, ZDHHC14, ACAT2, AFDN, AFDN-DT, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf118, C6orf120, CAHM, CCR6, CEP43, CLDN20, DACT2, DKFZp451B082, DLL1, DYNLT1, DYNLT2, ERMARD, EZR, EZR-AS1, FAM120B, FNDC1, FNDC1-AS1, FNDC1-IT1, FRMD1, GPR31, GTF2H5, HGC6.3, HPAT5, IGF2R, KIF25, KIF25-AS1, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02529, LINC02538, LINC02544, LINC02901, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC101929692, LOC102724087, LOC102724152, LOC102724220, LOC102724357, LOC102724511, LOC102725048, LOC105378068, LOC105378073, LOC105378098, LOC105378120, LOC105378123, LOC105378127, LOC105378130, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174971, LOC113174972, LOC113174973, LOC114827845, LOC115308161, LOC116183077, LOC116183078, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740671, LOC121740672, LOC121740673, LOC121740674, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905 | | See cases | Pathogenic (Apr 14, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:155699183-163554531
- GRCh38:
- Chr6:155378049-163133499
| LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129389705, LOC129389706, LOC129389707, LOC129389708, LOC129389709, LOC129389710, LOC129389711, LOC129389712, LOC129389713, LOC129389714, LOC129389715, LOC129389716, LOC129389717, LOC129389718, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC129997574, LOC129997575, LOC129997576, LOC129997577, LOC129997578, LOC129997579, LOC129997580, LOC129997581, LOC129997582, LOC129997583, LOC129997584, LOC129997585, LOC129997586, LOC129997587, LOC129997588, LOC129997589, LOC129997590, LOC129997591, LOC129997592, LOC129997593, LOC129997594, LOC129997595, LOC129997596, LOC129997597, LOC129997598, LOC129997599, LOC129997600, LOC129997601, LOC129997602, LOC129997603, LOC129997604, LOC129997605, LOC129997606, LOC129997607, LOC129997608, LOC129997609, LOC129997610, LOC129997611, LOC129997612, LOC129997613, LOC129997614, LOC129997615, LOC129997616, LOC129997617, LOC129997618, LOC129997619, LOC129997620, LOC129997621, LOC129997622, LOC129997623, LOC129997624, LOC129997625, LOC129997626, LOC129997627, LOC129997628, LOC129997629, LOC129997630, LOC129997631, LOC129997632, LOC129997633, LOC129997634, LOC129997635, LOC129997636, LOC132089376, LPA, MAP3K4, MAP3K4-AS1, MAS1, MIR1202, MIR3692, MIR3918, MIR4466, MIR7161, MRPL18, NOX3, PACRG, PACRG-AS2, PLG, PNLDC1, PRKN, RSPH3, SERAC1, SLC22A1, SLC22A2, SLC22A3, SNORA116, SNORA20, SNORA29, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TAGAP-AS1, TCP1, TMEM181, TMEM242, TMEM242-DT, TULP4, WTAP, ZDHHC14, ACAT2, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, DYNLT1, EZR, EZR-AS1, FNDC1, FNDC1-AS1, FNDC1-IT1, GTF2H5, IGF2R, LINC02529, LINC02901, LOC102724087, LOC105378068, LOC105378073, LOC105378098, LOC110121075, LOC113174971, LOC113174972, LOC114827845, LOC115308161, LOC116183077, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121740671, LOC121740672, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862 | | See cases | Pathogenic (Oct 7, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:156190384-157120089
- GRCh38:
- Chr6:155869250-156798955
| ARID1B, LOC105378073, LOC115308161, LOC123881342, LOC123881343, LOC129389695, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, MIR1202, MIR4466, SNORD28B | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:156549545-157430123
- GRCh38:
- Chr6:156228411-157108989
| ARID1B, LOC105378073, LOC115308161, LOC123881342, LOC123881343, LOC123881344, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, MIR4466, SNORD28B | | See cases | Likely pathogenic (Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:156674766-157968773
- GRCh38:
- Chr6:156353632-157547741
| ARID1B, LOC105378073, LOC115308161, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, MIR3692, MIR4466, SNORD28B, TMEM242, TMEM242-DT, ZDHHC14 | | See cases | Likely benign (Oct 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:156674766-157870814
- GRCh38:
- Chr6:156353632-157449782
| ARID1B, LOC105378073, LOC115308161, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, MIR4466, SNORD28B, TMEM242, TMEM242-DT, ZDHHC14 | | See cases | Pathogenic (Sep 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr6:156674766-157968714
- GRCh38:
- Chr6:156353632-157547682
| ARID1B, LOC105378073, LOC115308161, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, MIR3692, MIR4466, SNORD28B, TMEM242, TMEM242-DT, ZDHHC14 | | See cases | Uncertain significance (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:157098826-157098827
- GRCh38:
- Chr6:156777692-156777693
| ARID1B, LOC115308161, LOC129997522 | | not provided | Benign (Nov 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157098832-157098833
- GRCh38:
- Chr6:156777698-156777699
| ARID1B, LOC115308161, LOC129997522 | | not provided | Likely benign (Sep 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157098833-157098835
- GRCh38:
- Chr6:156777699-156777701
| ARID1B, LOC115308161, LOC129997522 | A14del | Coffin-Siris syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:157098835
- GRCh38:
- Chr6:156777701
| ARID1B, LOC115308161, LOC129997522 | | not provided | Likely benign (Apr 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157098853-157098864
- GRCh38:
- Chr6:156777719-156777730
| ARID1B, LOC115308161 | | not provided | Likely benign (Oct 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157098952-157098953
- GRCh38:
- Chr6:156777818-156777819
| ARID1B, LOC115308161 | | not provided | Likely benign (Sep 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099013
- GRCh38:
- Chr6:156777879
| ARID1B, LOC115308161, LOC129997523 | G67S | not provided | Benign (Aug 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099024
- GRCh38:
- Chr6:156777890
| ARID1B, LOC115308161, LOC129997523 | S70R | not provided | Benign (Jan 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099061
- GRCh38:
- Chr6:156777927
| ARID1B, LOC115308161, LOC129997523 | N83D | not specified, not provided | Conflicting interpretations of pathogenicity (Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:157099067
- GRCh38:
- Chr6:156777933
| LOC115308161, LOC129997523, ARID1B | A85S | Coffin-Siris syndrome 1 | Uncertain significance (Aug 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099070
- GRCh38:
- Chr6:156777936
| LOC115308161, LOC129997523, ARID1B | H3Y, H86Y | not provided | Uncertain significance (Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099074-157099075
- GRCh38:
- Chr6:156777940-156777941
| ARID1B, LOC115308161, LOC129997523 | | not provided, not specified, Inborn genetic diseases
| Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:157099080
- GRCh38:
- Chr6:156777946
| ARID1B, LOC115308161, LOC129997523 | G6D, G89D | ARID1B-related BAFopathy | Likely pathogenic (Jun 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099083
- GRCh38:
- Chr6:156777949
| ARID1B, |