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Items: 1 to 100 of 209

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
2.
GRCh37:
Chr6:135679288-155776251
GRCh38:
Chr6:135358150-155455117
LOC132089359, LOC132089360, LOC132089361, LOC132089362, LOC132089363, LOC132089364, LOC132089365, LOC132089366, LOC132089367, LOC132089368, LOC132089369, LOC132089370, LOC132089371, LOC132089372, LOC132089373, LOC132089374, LOC132089375, LOC132090769, LOC132090770, LOC132090771, LOC153910, LOC645967, LRP11, LTV1, LUADT1, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP7, MAP7-AS1, MIR12131, MIR1273C, MIR3145, MIR3668, MIR4465, MTFR2, MTHFD1L, MTRF1L, MYCT1, NHEG1, NHSL1, NHSL1-AS1, NMBR, NOX3, NUP43, OLIG3, OPRM1, PBOV1, PCMT1, PDE7B, PDE7B-AS1, PERP, PEX3, PEX7, PHACTR2, PHACTR2-AS1, PLAGL1, PLEKHG1, PPIL4, PPP1R14C, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, REPS1, RGS17, RMND1, SAMD5, SASH1, SCAF8, SF3B5, SHPRH, SIMALR, SLC35D3, SMIM28, SNORA98, STX11, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, TAB2, TAB2-AS1, TFB1M, TIAM2, TNFAIP3, TRL-TAA1-1, TRQ-TTG4-1, TXLNB, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, UTRN, VIP, VTA1, WAKMAR2, ZBTB2, ZC2HC1B, ZC3H12D, ABRACL, ADAT2, ADGB, ADGB-DT, ADGRG6, AHI1, AHI1-DT, AIG1, AKAP12, ARFGEF3, ARMT1, BCLAF1, CCDC170, CCDC28A, CCDC28A-AS1, CITED2, CLDN20, CNKSR3, ECT2L, EPM2A, EPM2A-DT, ESR1, FBXO30, FBXO5, FILNC1, FUCA2, GINM1, GJE1, GRM1, HEBP2, HECA, HIVEP2, HYMAI, IFNGR1, IL20RA, IL22RA2, IPCEF1, IYD, KATNA1, LATS1, LINC01277, LINC01625, LINC02524, LINC02539, LINC02840, LINC02865, LINC02919, LINC02941, LINC03004, LOC101928373, LOC102723690, LOC102723831, LOC103352541, LOC105378052, LOC105378066, LOC107403234, LOC108169207, LOC108348020, LOC110121174, LOC110121225, LOC111413040, LOC111589214, LOC111828525, LOC111828526, LOC113146415, LOC113146417, LOC113146418, LOC113146419, LOC113146422, LOC113146423, LOC113146426, LOC114004398, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC116183075, LOC116183076, LOC121132708, LOC121132709, LOC121132710, LOC121740667, LOC121740668, LOC121740669, LOC121740670, 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, LOC124900217, 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, 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, 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, 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, LOC132089349, LOC132089350, LOC132089351, LOC132089352, LOC132089353, LOC132089354, LOC132089355, LOC132089356, LOC132089357, LOC132089358
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr6:145253697-153306499
GRCh38:
Chr6:144932561-152985364
ADGB, ADGB-DT, AKAP12, ARMT1, CCDC170, EPM2A, EPM2A-DT, ESR1, FBXO30, FBXO5, GINM1, GRM1, IYD, KATNA1, LATS1, LINC02840, LOC102723831, LOC105378052, LOC107403234, LOC108348020, LOC110121225, LOC111828526, LOC113146423, LOC113146426, LOC114004398, LOC116183075, LOC121132710, LOC121740669, LOC121740670, LOC123864095, LOC123864096, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC126859820, LOC126859821, LOC126859822, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389677, LOC129389678, LOC129389679, LOC129389680, LOC129389681, LOC129389682, LOC129389683, LOC129389684, LOC129389685, LOC129389686, LOC129389687, LOC129389688, 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, LOC132089373, LOC132090771, LOC645967, LRP11, LUADT1, MIR12131, MTHFD1L, MYCT1, NUP43, PCMT1, PLEKHG1, PPIL4, PPP1R14C, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, RMND1, SAMD5, SASH1, SHPRH, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, TAB2, TAB2-AS1, TRQ-TTG4-1, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, VIP, ZBTB2, ZC3H12D
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
6.
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 1Pathogenic
(Aug 24, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr6:152125230-152125231
GRCh38:
Chr6:151804095-151804096
ESR1not providedBenign
(Oct 16, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr6:152128631
GRCh38:
Chr6:151807496
ESR1not providedBenign
(Apr 9, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr6:152128642
GRCh38:
Chr6:151807507
ESR1not providedBenign
(Mar 19, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr6:152128878
GRCh38:
Chr6:151807743
ESR1not providedLikely benign
(Sep 22, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr6:152129063
GRCh38:
Chr6:151807928
ESR1H6Ynot providedConflicting interpretations of pathogenicity
(Sep 1, 2023)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr6:152129076
GRCh38:
Chr6:151807941
ESR1S10Fnot providedUncertain significance
(Jan 9, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr6:152129077
GRCh38:
Chr6:151807942
ESR1not provided, Migraine with or without aura, susceptibility to, 1, Estrogen resistance syndrome,
Myocardial infarction, susceptibility to, Familial cancer of breast
Benign
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr6:152129162
GRCh38:
Chr6:151808027
ESR1not providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr6:152129221
GRCh38:
Chr6:151808086
ESR1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr6:152129276
GRCh38:
Chr6:151808141
ESR1G77Snot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr6:152129308
GRCh38:
Chr6:151808173
ESR1not providedBenign
(Oct 26, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr6:152129316
GRCh38:
Chr6:151808181
ESR1G90DInborn genetic diseasesUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:152129323
GRCh38:
Chr6:151808188
ESR1not providedLikely benign
(May 31, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr6:152129337
GRCh38:
Chr6:151808202
ESR1F97SInborn genetic diseasesUncertain significance
(Jun 22, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr6:152129343
GRCh38:
Chr6:151808208
ESR1P99LInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:152129343
GRCh38:
Chr6:151808208
ESR1P99Qnot providedUncertain significanceno assertion criteria provided
23.
GRCh37:
Chr6:152129362
GRCh38:
Chr6:151808227
ESR1not providedLikely benign
(Jun 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:152129362
GRCh38:
Chr6:151808227
ESR1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr6:152129399
GRCh38:
Chr6:151808264
ESR1S118Pnot providedBenign
(Jun 9, 2020)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:152129453
GRCh38:
Chr6:151808318
ESR1P136Snot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr6:152129456
GRCh38:
Chr6:151808321
ESR1S137Gnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr6:152129545-152129546
GRCh38:
Chr6:151808410-151808411
ESR1not providedBenign
(Sep 14, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr6:152129588
GRCh38:
Chr6:151808453
ESR1not providedBenign
(Sep 22, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr6:152129746
GRCh38:
Chr6:151808611
ESR1not providedBenign
(Nov 5, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr6:152129769
GRCh38:
Chr6:151808634
ESR1not providedLikely benign
(Apr 9, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr6:152163335
GRCh38:
Chr6:151842200
ESR1Myocardial infarction, susceptibility torisk factor
(Nov 5, 2003)
no assertion criteria provided
33.
GRCh37:
Chr6:152163532
GRCh38:
Chr6:151842397
ESR1not providedLikely benign
(Jan 12, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr6:152163733
GRCh38:
Chr6:151842598
ESR1P152Anot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr6:152163735
GRCh38:
Chr6:151842600
ESR1not providedLikely benign
(Feb 16, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr6:152163748
GRCh38:
Chr6:151842613
ESR1R157*Estrogen resistance syndromePathogenic
(Oct 20, 1994)
no assertion criteria provided
37.
GRCh37:
Chr6:152163757
GRCh38:
Chr6:151842622
ESR1G160Cnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr6:152163851
GRCh38:
Chr6:151842716
ESR1Y18C, Y191CInborn genetic diseasesUncertain significance
(Jul 20, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr6:152163985
GRCh38:
Chr6:151842850
ESR1not providedLikely benign
(Jun 28, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr6:152164026
GRCh38:
Chr6:151842891
ESR1not providedLikely benign
(Jan 20, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr6:152201464
GRCh38:
Chr6:151880329
ESR1not providedBenign
(Aug 17, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr6:152201482
GRCh38:
Chr6:151880347
ESR1not providedLikely benign
(Oct 21, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr6:152201624
GRCh38:
Chr6:151880489
ESR1not providedLikely benign
(Sep 22, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr6:152201866
GRCh38:
Chr6:151880731
ESR1Inborn genetic diseasesLikely benign
(Jul 31, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr6:152201875
GRCh38:
Chr6:151880740
ESR1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr6:152201991
GRCh38:
Chr6:151880856
ESR1not providedLikely benign
(Oct 7, 2020)
criteria provided, single submitter
47.
GRCh37:
Chr6:152202007
GRCh38:
Chr6:151880872
ESR1not providedBenign
(Aug 10, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr6:152202090
GRCh38:
Chr6:151880955
ESR1not providedLikely benign
(Apr 9, 2019)
criteria provided, single submitter
49.
GRCh37:
Chr6:152265098
GRCh38:
Chr6:151943963
ESR1not providedLikely benign
(Nov 22, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr6:152265145
GRCh38:
Chr6:151944010
ESR1not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr6:152265282-152265283
GRCh38:
Chr6:151944147-151944148
ESR1not providedBenign
(Dec 24, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr6:152265352
GRCh38:
Chr6:151944217
ESR1R268C, R269C, R271C, R96Cnot providedLikely benign
(Oct 19, 2020)
criteria provided, single submitter
53.
GRCh37:
Chr6:152265432
GRCh38:
Chr6:151944297
ESR1not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr6:152265443
GRCh38:
Chr6:151944308
ESR1K126R, K298R, K299R, K301Rnot providedUncertain significance
(Feb 23, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr6:152265455
GRCh38:
Chr6:151944320
ESR1K303R, K305R, K130R, K302RFamilial cancer of breastrisk factorno assertion criteria provided
56.
GRCh37:
Chr6:152265480
GRCh38:
Chr6:151944345
ESR1not providedBenign/Likely benign
(Jun 15, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr6:152265483
GRCh38:
Chr6:151944348
ESR1not providedLikely benign
(Jul 6, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr6:152265522
GRCh38:
Chr6:151944387
ESR1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr6:152265567
GRCh38:
Chr6:151944432
ESR1not providedLikely benign
(Apr 10, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr6:152265579
GRCh38:
Chr6:151944444
ESR1not providedLikely benign
(Aug 16, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr6:152265638
GRCh38:
Chr6:151944503
ESR1V364E, V366E, V191E, V363EEstrogen resistance syndromeUncertain significance
(Nov 8, 2013)
no assertion criteria provided
62.
GRCh37:
Chr6:152265642
GRCh38:
Chr6:151944507
ESR1not providedUncertain significance
(Jan 20, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:152265658
GRCh38:
Chr6:151944523
ESR1not providedLikely benign
(Oct 31, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr6:152265659
GRCh38:
Chr6:151944524
ESR1not providedBenign
(Jun 17, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr6:152332518
GRCh38:
Chr6:152011383
ESR1not providedBenign
(Sep 22, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr6:152332660
GRCh38:
Chr6:152011525
ESR1not providedBenign
(Oct 21, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr6:152332696
GRCh38:
Chr6:152011561
ESR1not providedLikely benign
(Nov 22, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr6:152332819
GRCh38:
Chr6:152011684
ESR1Q375H, Q202H, Q374H, Q377HEstrogen resistance syndromePathogenic
(Jul 11, 2013)
no assertion criteria provided
69.
GRCh37:
Chr6:152332825
GRCh38:
Chr6:152011690
ESR1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr6:152332831
GRCh38:
Chr6:152011696
ESR1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr6:152332832
GRCh38:
Chr6:152011697
ESR1E380Q, E207Q, E382Q, E379QBreast neoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria provided
72.
GRCh37:
Chr6:152332875
GRCh38:
Chr6:152011740
ESR1R394H, R393H, R221H, R396HEstrogen resistance syndromePathogenic/Likely pathogenic
(Dec 3, 2018)
no assertion criteria provided
73.
GRCh37:
Chr6:152332984
GRCh38:
Chr6:152011849
ESR1not providedBenign
(Mar 29, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr6:152333032
GRCh38:
Chr6:152011897
ESR1not providedLikely benign
(Dec 31, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr6:152333104
GRCh38:
Chr6:152011969
ESR1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr6:152333152-152333153
GRCh38:
Chr6:152012017-152012018
ESR1not providedLikely benign
(Nov 13, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr6:152333152-152333153
GRCh38:
Chr6:152012017-152012018
ESR1not providedBenign
(Sep 29, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr6:152333152-152333153
GRCh38:
Chr6:152012017-152012018
ESR1not providedBenign
(Aug 23, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr6:152333152-152333153
GRCh38:
Chr6:152012017-152012018
ESR1not providedBenign
(Sep 29, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr6:152333152-152333153
GRCh38:
Chr6:152012017-152012018
ESR1not providedBenign
(Jun 3, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr6:152333152-152333153
GRCh38:
Chr6:152012017-152012018
ESR1not providedBenign
(Oct 7, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr6:152333183-152333184
GRCh38:
Chr6:152012048-152012049
ESR1not providedLikely benign
(Nov 14, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr6:152333187-152333188
GRCh38:
Chr6:152012052-152012053
ESR1not providedBenign
(Aug 15, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr6:152333188-152333189
GRCh38:
Chr6:152012053-152012054
ESR1not providedBenign
(Aug 10, 2019)
criteria provided, single submitter
85.
GRCh37:
Chr6:152381998
GRCh38:
Chr6:152060863
ESR1not providedBenign
(Oct 17, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr6:152382014
GRCh38:
Chr6:152060879
ESR1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr6:152382229-152382230
GRCh38:
Chr6:152061094-152061095
ESR1C447A, C449A, C274A, C446AEstrogen receptor mutant, temperature-sensitivePathogenic
(May 15, 1992)
no assertion criteria provided
88.
GRCh37:
Chr6:152382311
GRCh38:
Chr6:152061176
ESR1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr6:152382325
GRCh38:
Chr6:152061190
ESR1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr6:152382382
GRCh38:
Chr6:152061247
ESR1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr6:152382394
GRCh38:
Chr6:152061259
ESR1not providedLikely benign
(Oct 31, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr6:152382420
GRCh38:
Chr6:152061285
ESR1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr6:152382474
GRCh38:
Chr6:152061339
ESR1not providedLikely benign
(Dec 23, 2019)
criteria provided, single submitter
94.
GRCh37:
Chr6:152415537
GRCh38:
Chr6:152094402
ESR1S463P, S465P, S462PBreast neoplasmPathogenic
(Oct 2, 2014)
no assertion criteria provided
95.
GRCh37:
Chr6:152415647
GRCh38:
Chr6:152094512
ESR1not providedLikely benign
(Jul 11, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr6:152419526
GRCh38:
Chr6:152098391
ESR1not providedBenign
(Oct 24, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr6:152419606
GRCh38:
Chr6:152098471
ESR1not providedLikely benign
(Jun 10, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr6:152419719
GRCh38:
Chr6:152098584
ESR1not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr6:152419914
GRCh38:
Chr6:152098779
ESR1V534E, V536E, V533EBreast neoplasmPathogenic
(Oct 2, 2014)
no assertion criteria provided
100.
GRCh37:
Chr6:152419917
GRCh38:
Chr6:152098782
ESR1P535H, P534H, P537HBreast neoplasmPathogenic
(Oct 2, 2014)
no assertion criteria provided
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