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Items: 1 to 100 of 262

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:
Chr6:146802255-151748764
GRCh38:
Chr6:146481119-151427629
ADGB, ADGB-DT, AKAP12, GINM1, IYD, KATNA1, LATS1, LOC102723831, LOC105378052, LOC107403234, LOC108348020, LOC110121225, LOC113146423, LOC113146426, LOC114004398, LOC116183075, LOC121132710, LOC121740669, LOC121740670, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC129389677, LOC129389678, LOC129389679, LOC129389680, LOC129389681, LOC129389682, LOC129389683, LOC129389684, LOC129389685, LOC129389686, LOC129389687, 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, LOC132089373, LOC132090771, LOC645967, LRP11, LUADT1, MIR12131, MTHFD1L, NUP43, PCMT1, PLEKHG1, PPIL4, PPP1R14C, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, RMND1, SAMD5, SASH1, STXBP5, STXBP5-AS1, SUMO4, TAB2, TAB2-AS1, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, ZBTB2, ZC3H12D
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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
7.
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
8.
GRCh37:
Chr6:151690228-151839345
GRCh38:
Chr6:151369093-151518210
See casesBenign
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr6:151725993-151725994
GRCh38:
Chr6:151404858-151404859
RMND1not providedBenign
(Jan 27, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr6:151726175
GRCh38:
Chr6:151405040
RMND1not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr6:151726300
GRCh38:
Chr6:151405165
RMND1not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr6:151726371
GRCh38:
Chr6:151405236
RMND1Inborn genetic diseases, Combined oxidative phosphorylation defect type 11Conflicting interpretations of pathogenicity
(Jan 18, 2021)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr6:151726371
GRCh38:
Chr6:151405236
RMND1not specified, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr6:151726372
GRCh38:
Chr6:151405237
RMND1Inborn genetic diseasesLikely pathogenic
(Oct 26, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr6:151726381
GRCh38:
Chr6:151405246
RMND1V277I, V447Inot providedLikely benign
(Oct 26, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr6:151726385
GRCh38:
Chr6:151405250
RMND1not specifiedLikely benign
(Aug 2, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr6:151726397
GRCh38:
Chr6:151405262
RMND1M271I, M441Inot providedUncertain significance
(May 25, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr6:151726399
GRCh38:
Chr6:151405264
RMND1M271L, M441Lnot providedBenign/Likely benign
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr6:151726413
GRCh38:
Chr6:151405278
RMND1not provided, Combined oxidative phosphorylation defect type 11Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr6:151726415-151726418
GRCh38:
Chr6:151405280-151405283
RMND1not providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr6:151726756
GRCh38:
Chr6:151405621
RMND1not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr6:151726759
GRCh38:
Chr6:151405624
RMND1not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr6:151726798
GRCh38:
Chr6:151405663
RMND1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:151726829
GRCh38:
Chr6:151405694
RMND1not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr6:151726833-151726836
GRCh38:
Chr6:151405698-151405701
RMND1not providedLikely benign
(Aug 8, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr6:151726835-151726836
GRCh38:
Chr6:151405700-151405701
RMND1not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:151726843
GRCh38:
Chr6:151405708
RMND1not providedLikely benign
(Jul 17, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:151726849
GRCh38:
Chr6:151405714
RMND1not providedUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:151726852
GRCh38:
Chr6:151405717
RMND1Inborn genetic diseasesUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr6:151726854
GRCh38:
Chr6:151405719
RMND1Mitochondrial diseasePathogenic
(Dec 22, 2015)
no assertion criteria provided
31.
GRCh37:
Chr6:151726869
GRCh38:
Chr6:151405734
RMND1L435F, L265FMitochondrial diseasePathogenic
(Dec 22, 2015)
no assertion criteria provided
32.
GRCh37:
Chr6:151726877
GRCh38:
Chr6:151405742
RMND1I262T, I432Tnot provided, Combined oxidative phosphorylation defect type 11Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr6:151726883
GRCh38:
Chr6:151405748
RMND1W260S, W430Snot provided, Combined oxidative phosphorylation defect type 11Uncertain significance
(Jul 30, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr6:151726886
GRCh38:
Chr6:151405751
RMND1E259V, E429VCombined oxidative phosphorylation defect type 11Uncertain significance
(Jul 10, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr6:151726892
GRCh38:
Chr6:151405757
RMND1R257H, R427Hnot providedUncertain significanceno assertion criteria provided
36.
GRCh37:
Chr6:151726902
GRCh38:
Chr6:151405767
RMND1not providedLikely benign
(May 26, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:151726917-151726918
GRCh38:
Chr6:151405782-151405783
RMND1H249fs, H419fsnot providedPathogenic
(Sep 3, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:151726922
GRCh38:
Chr6:151405787
RMND1R417Q, R247QCombined oxidative phosphorylation defect type 11Pathogenic
(Aug 15, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr6:151726925
GRCh38:
Chr6:151405790
RMND1M246T, M416Tnot providedUncertain significance
(Nov 11, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr6:151726929
GRCh38:
Chr6:151405794
RMND1L415V, L245Vnot providedUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:151726930
GRCh38:
Chr6:151405795
RMND1not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:151726934
GRCh38:
Chr6:151405799
RMND1T413K, T243Knot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:151726934-151726937
GRCh38:
Chr6:151405799-151405802
RMND1L242fs, L412fsnot provided, Combined oxidative phosphorylation defect type 11Pathogenic/Likely pathogenic
(Apr 6, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr6:151726943
GRCh38:
Chr6:151405808
RMND1M240T, M410Tnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:151726962
GRCh38:
Chr6:151405827
RMND1E404K, E234Knot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr6:151726963
GRCh38:
Chr6:151405828
RMND1not provided, Combined oxidative phosphorylation defect type 11Benign/Likely benign
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr6:151726975
GRCh38:
Chr6:151405840
RMND1not providedLikely benign
(Jun 19, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:151726981
GRCh38:
Chr6:151405846
RMND1not providedLikely benign
(Aug 1, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:151726985
GRCh38:
Chr6:151405850
RMND1not providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:151727102-151727103
GRCh38:
Chr6:151405967-151405968
RMND1not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr6:151727208
GRCh38:
Chr6:151406073
RMND1not providedLikely benign
(Aug 11, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr6:151727254
GRCh38:
Chr6:151406119
RMND1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr6:151738131
GRCh38:
Chr6:151416996
RMND1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr6:151738370
GRCh38:
Chr6:151417235
RMND1not providedLikely benign
(Jul 8, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr6:151738376
GRCh38:
Chr6:151417241
RMND1not providedBenign
(Jun 19, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr6:151738410
GRCh38:
Chr6:151417275
RMND1not providedConflicting interpretations of pathogenicity
(Aug 20, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr6:151738413
GRCh38:
Chr6:151417278
RMND1not providedLikely pathogenic
(Aug 22, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:151738424
GRCh38:
Chr6:151417289
RMND1R227Q, R397Qnot provided, Inborn genetic diseasesUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr6:151738447
GRCh38:
Chr6:151417312
RMND1not provided, Combined oxidative phosphorylation defect type 11Benign/Likely benign
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr6:151738455
GRCh38:
Chr6:151417320
RMND1D217H, D387Hnot provided, Combined oxidative phosphorylation defect type 11Uncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:151738456
GRCh38:
Chr6:151417321
RMND1not providedLikely benign
(May 17, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:151738494
GRCh38:
Chr6:151417359
RMND1D204H, D374HInborn genetic diseasesUncertain significance
(Jun 22, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr6:151738497
GRCh38:
Chr6:151417362
RMND1P203A, P373Anot providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:151738516
GRCh38:
Chr6:151417381
RMND1S196R, S366Rnot providedUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:151738519-151738520
GRCh38:
Chr6:151417384-151417385
RMND1S196fs, S366fsnot providedPathogenic
(Dec 17, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr6:151738529
GRCh38:
Chr6:151417394
RMND1R362H, R192Hnot provided, Combined oxidative phosphorylation defect type 11Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr6:151738530
GRCh38:
Chr6:151417395
RMND1R362C, R192CCombined oxidative phosphorylation defect type 11, not providedUncertain significance
(Jun 5, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr6:151738566
GRCh38:
Chr6:151417431
RMND1not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr6:151738628
GRCh38:
Chr6:151417493
RMND1not providedBenign
(Aug 6, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr6:151738854
GRCh38:
Chr6:151417719
RMND1not providedBenign
(Jun 26, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr6:151742382
GRCh38:
Chr6:151421247
RMND1Combined oxidative phosphorylation defect type 11, not providedLikely benign
(May 12, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr6:151742397
GRCh38:
Chr6:151421262
RMND1not providedLikely benign
(May 12, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr6:151742410
GRCh38:
Chr6:151421275
RMND1M350T, M180TCombined oxidative phosphorylation defect type 11Uncertain significance
(Jul 10, 2019)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr6:151742420
GRCh38:
Chr6:151421285
RMND1E347K, E177KCombined oxidative phosphorylation defect type 11, not providedUncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr6:151742456
GRCh38:
Chr6:151421321
RMND1Combined oxidative phosphorylation defect type 11Pathogenic
(Dec 21, 2016)
no assertion criteria provided
76.
GRCh37:
Chr6:151742457-151742458
GRCh38:
Chr6:151421322-151421323
RMND1not providedUncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr6:151742472-151742473
GRCh38:
Chr6:151421337-151421338
RMND1not providedUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:151742473
GRCh38:
Chr6:151421338
RMND1not providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr6:151742541
GRCh38:
Chr6:151421406
RMND1not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr6:151742542
GRCh38:
Chr6:151421407
RMND1not providedBenign
(Jun 19, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr6:151743409-151743412
GRCh38:
Chr6:151422274-151422277
RMND1not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr6:151743629
GRCh38:
Chr6:151422494
RMND1not provided, Combined oxidative phosphorylation defect type 11Benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr6:151743661
GRCh38:
Chr6:151422526
RMND1not provided, not specifiedLikely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr6:151743666
GRCh38:
Chr6:151422531
RMND1not providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:151743669
GRCh38:
Chr6:151422534
RMND1not providedLikely benign
(Dec 3, 2020)
criteria provided, single submitter
86.
GRCh37:
Chr6:151743670
GRCh38:
Chr6:151422535
RMND1not providedUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr6:151743673
GRCh38:
Chr6:151422538
RMND1not providedUncertain significance
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr6:151743676
GRCh38:
Chr6:151422541
RMND1E334D, E164Dnot providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:151743698
GRCh38:
Chr6:151422563
RMND1E157V, E327Vnot providedUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:151743707
GRCh38:
Chr6:151422572
RMND1K324T, K154Tnot providedUncertain significance
(May 3, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:151743745-151743746
GRCh38:
Chr6:151422610-151422611
RMND1not specified, not providedBenign/Likely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr6:151743938
GRCh38:
Chr6:151422803
RMND1not providedLikely benign
(Mar 31, 2019)
criteria provided, single submitter
93.
GRCh37:
Chr6:151743948
GRCh38:
Chr6:151422813
RMND1not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr6:151744403
GRCh38:
Chr6:151423268
RMND1not providedLikely benign
(Nov 20, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr6:151744649
GRCh38:
Chr6:151423514
RMND1not specifiedLikely benign
(Apr 20, 2017)
criteria provided, single submitter
96.
GRCh37:
Chr6:151744657
GRCh38:
Chr6:151423522
RMND1not providedUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr6:151744670
GRCh38:
Chr6:151423535
RMND1not providedLikely benign
(May 20, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:151744671
GRCh38:
Chr6:151423536
RMND1L309R, L139Rnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
99.
GRCh37:
Chr6:151744677
GRCh38:
Chr6:151423542
RMND1N307S, N137Snot provided, Combined oxidative phosphorylation defect type 11Uncertain significance
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr6:151744697
GRCh38:
Chr6:151423562
RMND1not providedLikely benign
(Jul 24, 2022)
criteria provided, single submitter
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