| - GRCh37:
- Chr10:224406-26628907
- GRCh38:
- Chr10:90205-26339978
| LINC00700, LINC00701, LINC00702, LINC00703, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC00836, LINC01516, LINC02561, LINC02639, LINC02642, LINC02643, LINC02645, LINC02648, LINC02649, LINC02654, LINC02656, LINC02660, LINC02662, LINC02665, LINC02668, LINC02669, LINC02670, LINC02676, LINC02677, LINC02678, LINC03027, LINP1, LOC100130992, LOC101928051, LOC101928272, LOC101928453, LOC101928834, LOC101929073, LOC101930421, LOC105376350, LOC105376353, LOC105376360, LOC105376384, LOC105376387, LOC105376390, LOC105376398, LOC105376420, LOC106783505, LOC106783507, LOC106783576, LOC107275222, LOC107275223, LOC107275226, LOC107984195, LOC108348022, LOC108353817, LOC108353819, LOC108903148, LOC108903149, LOC110121355, LOC110121449, LOC110121467, LOC110121476, LOC111464994, LOC111501766, LOC111589206, LOC111589212, LOC111818965, LOC111832674, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC111946234, LOC111946236, LOC111946241, LOC111946242, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC116216105, LOC116216106, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366037, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, LOC121366047, LOC121366048, LOC121811723, LOC121811724, LOC121811725, LOC121811726, LOC121811727, LOC121811728, LOC121811729, LOC124403897, LOC124403898, LOC124403899, LOC124403900, LOC124403901, LOC124403902, LOC124403903, LOC124403904, LOC124403905, LOC124403906, LOC124403907, LOC124403908, LOC124403909, LOC124403910, LOC124403911, LOC124403912, LOC124403913, LOC124403914, LOC124403915, LOC124403916, LOC124403917, LOC124403918, LOC124403919, LOC124403920, LOC124403921, LOC124403922, LOC124403923, LOC126860802, LOC126860803, LOC126860804, LOC126860805, LOC126860806, LOC126860807, LOC126860808, LOC126860809, LOC126860810, LOC126860811, LOC126860812, LOC126860813, LOC126860814, LOC126860815, LOC126860816, LOC126860817, LOC126860818, LOC126860819, LOC126860820, LOC126860821, LOC126860822, LOC126860823, LOC126860824, LOC126860825, LOC126860826, LOC126860827, LOC126860828, LOC126860829, LOC126860830, LOC126860831, LOC126860832, LOC126860833, LOC126860834, LOC126860835, LOC126860836, LOC126860837, LOC126860838, LOC126860839, LOC126860840, LOC126860841, LOC126860842, LOC126860843, LOC126860844, LOC126860845, LOC126860846, LOC126860847, LOC126860848, LOC126860849, LOC126860850, LOC126860851, LOC126860852, LOC126860853, LOC126860854, LOC126860855, LOC126860856, LOC126860857, LOC126860858, LOC126860859, LOC126860860, LOC126860861, LOC126860862, LOC126860863, LOC126860864, LOC126860865, LOC126860866, LOC126860867, LOC126860868, LOC126860869, LOC126860870, LOC126860871, LOC126860872, LOC126860873, LOC126860874, LOC126860875, LOC126860876, LOC126860877, LOC126860878, LOC126860879, LOC126860880, LOC126860881, LOC126860882, LOC126860883, LOC126860884, LOC126860885, LOC126860886, LOC126860887, LOC126860888, LOC126860889, LOC128462383, LOC128462384, LOC128462385, LOC128462386, LOC128462408, LOC128854703, LOC128854704, LOC129390119, LOC129390120, LOC129390121, LOC129390122, LOC129390123, LOC129390124, LOC129390125, LOC129390126, LOC129390127, LOC129390128, LOC129390129, LOC129390130, LOC129390131, LOC129390132, LOC129390133, LOC129390134, LOC129390135, LOC129390136, LOC129390137, LOC129390138, LOC129390139, LOC129390140, LOC129390141, LOC129390142, LOC129390143, LOC129390144, LOC129390145, LOC129390146, LOC129390147, LOC129390148, LOC129390149, LOC129390150, LOC129390151, LOC129390152, LOC129390153, LOC129390154, LOC129390155, LOC129390156, LOC129390157, LOC129390158, LOC130003153, LOC130003154, LOC130003155, LOC130003156, LOC130003157, LOC130003158, LOC130003159, LOC130003160, LOC130003161, LOC130003162, LOC130003163, LOC130003164, LOC130003165, LOC130003166, LOC130003167, LOC130003168, LOC130003169, LOC130003170, LOC130003171, LOC130003172, LOC130003173, LOC130003174, LOC130003175, LOC130003176, LOC130003177, LOC130003178, LOC130003179, LOC130003180, LOC130003181, LOC130003182, LOC130003183, LOC130003184, LOC130003185, LOC130003186, LOC130003187, LOC130003188, LOC130003189, LOC130003190, LOC130003191, LOC130003192, LOC130003193, LOC130003194, LOC130003195, LOC130003196, LOC130003197, LOC130003198, LOC130003199, LOC130003200, LOC130003201, LOC130003202, LOC130003203, LOC130003204, LOC130003205, LOC130003206, LOC130003207, LOC130003208, LOC130003209, LOC130003210, LOC130003211, LOC130003212, LOC130003213, LOC130003214, LOC130003215, LOC130003216, LOC130003217, LOC130003218, LOC130003219, LOC130003220, LOC130003221, LOC130003222, LOC130003223, LOC130003224, LOC130003225, LOC130003226, LOC130003227, LOC130003228, LOC130003229, LOC130003230, LOC130003231, LOC130003232, LOC130003233, LOC130003234, LOC130003235, LOC130003236, LOC130003237, LOC130003238, LOC130003239, LOC130003240, LOC130003241, LOC130003242, LOC130003243, LOC130003244, LOC130003245, LOC130003246, LOC130003247, LOC130003248, LOC130003249, LOC130003250, LOC130003251, LOC130003252, LOC130003253, LOC130003254, LOC130003255, LOC130003256, LOC130003257, LOC130003258, LOC130003259, LOC130003260, LOC130003261, LOC130003262, LOC130003263, LOC130003264, LOC130003265, LOC130003266, LOC130003267, LOC130003268, LOC130003269, LOC130003270, LOC130003271, LOC130003272, LOC130003273, LOC130003274, LOC130003275, LOC130003276, LOC130003277, LOC130003278, LOC130003279, LOC130003280, LOC130003281, LOC130003282, LOC130003283, LOC130003284, LOC130003285, LOC130003286, LOC130003287, LOC130003288, LOC130003289, LOC130003290, LOC130003291, LOC130003292, LOC130003293, LOC130003294, LOC130003295, LOC130003296, LOC130003297, LOC130003298, LOC130003299, LOC130003300, LOC130003301, LOC130003302, LOC130003303, LOC130003304, LOC130003305, LOC130003306, LOC130003307, LOC130003308, LOC130003309, LOC130003310, LOC130003311, LOC130003312, LOC130003313, LOC130003314, LOC130003315, LOC130003316, LOC130003317, LOC130003318, LOC130003319, LOC130003320, LOC130003321, LOC130003322, LOC130003323, LOC130003324, LOC130003325, LOC130003326, LOC130003327, LOC130003328, LOC130003329, LOC130003330, LOC130003331, LOC130003332, LOC130003333, LOC130003334, LOC130003335, LOC130003336, LOC130003337, LOC130003338, LOC130003339, LOC130003340, LOC130003341, LOC130003342, LOC130003343, LOC130003344, LOC130003345, LOC130003346, LOC130003347, LOC130003348, LOC130003349, LOC130003350, LOC130003351, LOC130003352, LOC130003353, LOC130003354, LOC130003355, LOC130003356, LOC130003357, LOC130003358, LOC130003359, LOC130003360, LOC130003361, LOC130003362, LOC130003363, LOC130003364, LOC130003365, LOC130003366, LOC130003367, LOC130003368, LOC130003369, LOC130003370, LOC130003371, LOC130003372, LOC130003373, LOC130003374, LOC130003375, LOC130003376, LOC130003377, LOC130003378, LOC130003379, LOC130003380, LOC130003381, LOC130003382, LOC130003383, LOC130003384, LOC130003385, LOC130003386, LOC130003387, LOC130003388, LOC130003389, LOC130003390, LOC130003391, LOC130003392, LOC130003393, LOC130003394, ACBD7, ACBD7-DCLRE1CP1, ADARB2, ADARB2-AS1, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ANKRD16, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BEND7, BEND7-DT, BMI1, C10orf113, C10orf67, C10orf67-AS1, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CUBN, DCLRE1C, DHTKD1, DIP2C, DIP2C-AS1, DNAJC1, EBLN1, ECHDC3, ENKUR, FAM107B, FAM171A1, FBH1, FRMD4A, GAD2, GATA3, GATA3-AS1, GDI2, GPR158, GPR158-AS1, GTPBP4, HACD1, HSPA14, IDI1, IDI2, IDI2-AS1, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIAA1217, KIN, KLF6, LARP4B, LARP4B-DT, LASTR, LINC00200, LOC130003395, LOC130003396, LOC130003397, LOC130003398, LOC130003399, LOC130003400, LOC130003401, LOC130003402, LOC130003403, LOC130003404, LOC130003405, LOC130003406, LOC130003407, LOC130003408, LOC130003409, LOC130003410, LOC130003411, LOC130003412, LOC130003413, LOC130003414, LOC130003415, LOC130003416, LOC130003417, LOC130003418, LOC130003419, LOC130003420, LOC130003421, LOC130003422, LOC130003423, LOC130003424, LOC130003425, LOC130003426, LOC130003427, LOC130003428, LOC130003429, LOC130003430, LOC130003431, LOC130003432, LOC130003433, LOC130003434, LOC130003435, LOC130003436, LOC130003437, LOC130003438, LOC130003439, LOC130003440, LOC130003441, LOC130003442, LOC130003443, LOC130003444, LOC130003445, LOC130003446, LOC130003447, LOC130003448, LOC130003449, LOC130003450, LOC130003451, LOC130003452, LOC130003453, LOC130003454, LOC130003455, LOC130003456, LOC130003457, LOC130003458, LOC130003459, LOC130003460, LOC130003461, LOC130003462, LOC130003463, LOC130003464, LOC130003465, LOC130003466, LOC130003467, LOC130003468, LOC130003469, LOC130003470, LOC130003471, LOC130003472, LOC130003473, LOC130003474, LOC130003475, LOC130003476, LOC130003477, LOC130003478, LOC130003479, LOC130003480, LOC130003481, LOC130003482, LOC130003483, LOC130003484, LOC130003485, LOC130003486, LOC130003487, LOC130003488, LOC130003489, LOC130003490, LOC130003491, LOC130003492, LOC130003493, LOC130003494, LOC130003495, LOC130003496, LOC130003497, LOC130003498, LOC130003499, LOC130003500, LOC130003501, LOC130003502, LOC130003503, LOC130003504, LOC130003505, LOC130003506, LOC130003507, LOC130003508, LOC130003509, LOC130003510, LOC130003511, LOC130003512, LOC130003513, LOC130003514, LOC130003515, LOC130003516, LOC130003517, LOC130003518, LOC130003519, LOC130003520, LOC130003521, LOC130003522, LOC130003523, LOC130003524, LOC130003525, LOC130003526, LOC130003527, LOC130003528, LOC130003529, LOC130003530, LOC130003531, LOC130003532, LOC132089762, LOC132089763, LOC132089764, LOC132089765, LOC132089766, LOC132089785, LOC132089786, LOC132089787, LOC132089788, LOC132089789, LOC132089790, LOC132089792, LOC132089800, LOC132089802, LOC132089803, LOC132089848, LOC132089861, LOC132089878, LOC132090803, LOC132090804, LOC132090805, MALRD1, MANCR, MCM10, MEIG1, MINDY3, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR4293, MIR4480, MIR4481, MIR4675, MIR511, MIR548AK, MIR548Q, MIR5699, MIR603, MIR6072, MIR6078, MLLT10, MRC1, MSANTD7, MSRB2, MYO3A, NEBL, NEBL-AS1, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, OTUD1, PFKFB3, PFKP, PFKP-DT, PHYH, PIP4K2A, PITRM1, PITRM1-AS1, PLXDC2, PRINS, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PTER, PTF1A, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORD129, SNORD142, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, SUV39H2-DT, TAF3, TASOR2, THNSL1, TMEM236, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WDR37, ZMYND11 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:4646926-47531169
- GRCh38:
- Chr10:4604734-48074662
| LOC130003254, LOC130003255, LOC130003256, LOC130003257, LOC130003258, LOC130003259, LOC130003260, LOC130003261, LOC130003262, LOC130003263, LOC130003264, LOC130003265, LOC130003266, LOC130003267, LOC130003268, LOC130003269, LOC130003270, LOC130003271, LOC130003272, LOC130003273, LOC130003274, LOC130003275, LOC130003276, LOC130003277, LOC130003278, LOC130003279, LOC130003280, LOC130003281, LOC130003282, LOC130003283, LOC130003284, LOC130003285, LOC130003286, LOC130003287, LOC130003288, LOC130003289, LOC130003290, LOC130003291, LOC130003292, LOC130003293, LOC130003294, LOC130003295, LOC130003296, LOC130003297, LOC130003298, LOC130003299, LOC130003300, LOC130003301, LOC130003302, LOC130003303, LOC130003304, LOC130003305, LOC130003306, LOC130003307, LOC130003308, LOC130003309, LOC130003310, LOC130003311, LOC130003312, LOC130003313, LOC130003314, LOC130003315, LOC130003316, LOC130003317, LOC130003318, LOC130003319, LOC130003320, LOC130003321, LOC130003322, LOC130003323, LOC130003324, LOC130003325, LOC130003326, LOC130003327, LOC130003328, LOC130003329, LOC130003330, LOC130003331, LOC130003332, LOC130003333, LOC130003334, LOC130003335, LOC130003336, LOC130003337, LOC130003338, LOC130003339, LOC130003340, LOC130003341, LOC130003342, LOC130003343, LOC130003344, LOC130003345, LOC130003346, LOC130003347, LOC130003348, LOC130003349, LOC130003350, LOC130003351, LOC130003352, LOC130003353, LOC130003354, LOC130003355, LOC130003356, LOC130003357, LOC130003358, LOC130003359, LOC130003360, LOC130003361, LOC130003362, LOC130003363, LOC130003364, LOC130003365, LOC130003366, LOC130003367, LOC130003368, LOC130003369, LOC130003370, LOC130003371, LOC130003372, LOC130003373, LOC130003374, LOC130003375, LOC130003376, LOC130003377, LOC130003378, LOC130003379, LOC130003380, LOC130003381, LOC130003382, LOC130003383, LOC130003384, LOC130003385, LOC130003386, LOC130003387, LOC130003388, LOC130003389, LOC130003390, LOC130003391, LOC130003392, LOC130003393, LOC130003394, LOC130003395, LOC130003396, LOC130003397, LOC130003398, LOC130003399, LOC130003400, LOC130003401, LOC130003402, LOC130003403, LOC130003404, LOC130003405, LOC130003406, LOC130003407, LOC130003408, LOC130003409, LOC130003410, LOC130003411, LOC130003412, LOC130003413, LOC130003414, LOC130003415, LOC130003416, LOC130003417, LOC130003418, LOC130003419, LOC130003420, LOC130003421, LOC130003422, LOC130003423, LOC130003424, LOC130003425, LOC130003426, LOC130003427, LOC130003428, LOC130003429, LOC130003430, LOC130003431, LOC130003432, LOC130003433, LOC130003434, LOC130003435, LOC130003436, LOC130003437, LOC130003438, LOC130003439, LOC130003440, LOC130003441, LOC130003442, LOC130003443, LOC130003444, LOC130003445, LOC130003446, LOC130003447, LOC130003448, LOC130003449, LOC130003450, LOC130003451, LOC130003452, LOC130003453, LOC130003454, LOC130003455, LOC130003456, LOC130003457, LOC130003458, LOC130003459, LOC130003460, LOC130003461, LOC130003462, LOC130003463, LOC130003464, LOC130003465, LOC130003466, LOC130003467, LOC130003468, LOC130003469, LOC130003470, LOC130003471, LOC130003472, LOC130003473, LOC130003474, LOC130003475, LOC130003476, LOC130003477, LOC130003478, LOC130003479, LOC130003480, LOC130003481, LOC130003482, LOC130003483, LOC130003484, LOC130003485, LOC130003486, LOC130003487, LOC130003488, LOC130003489, LOC130003490, LOC130003491, LOC130003492, LOC130003493, LOC130003494, LOC130003495, LOC130003496, LOC130003497, LOC130003498, LOC130003499, LOC130003500, LOC130003501, LOC130003502, LOC130003503, LOC130003504, LOC130003505, LOC130003506, LOC130003507, LOC130003508, LOC130003509, LOC130003510, LOC130003511, LOC130003512, LOC130003513, LOC130003514, LOC130003515, LOC130003516, LOC130003517, LOC130003518, LOC130003519, LOC130003520, LOC130003521, LOC130003522, LOC130003523, LOC130003524, LOC130003525, LOC130003526, LOC130003527, LOC130003528, LOC130003529, LOC130003530, LOC130003531, LOC130003532, LOC130003533, LOC130003534, LOC130003535, LOC130003536, LOC130003537, LOC130003538, LOC130003539, LOC130003540, LOC130003541, LOC130003542, LOC130003543, LOC130003544, LOC130003545, LOC130003546, LOC130003547, LOC130003548, LOC130003549, LOC130003550, LOC130003551, LOC130003552, LOC130003553, LOC130003554, LOC130003555, LOC130003556, LOC130003557, LOC130003558, LOC130003559, LOC130003560, LOC130003561, LOC130003562, LOC130003563, LOC130003564, LOC130003565, LOC130003566, LOC130003567, LOC130003568, LOC130003569, LOC130003570, LOC130003571, LOC130003572, LOC130003573, LOC130003574, LOC130003575, LOC130003576, LOC130003577, LOC130003578, LOC130003579, LOC130003580, LOC130003581, LOC130003582, LOC130003583, LOC130003584, LOC130003585, LOC130003586, LOC130003587, LOC130003588, LOC130003589, LOC130003590, LOC130003591, LOC130003592, LOC130003593, LOC130003594, LOC130003595, LOC130003596, LOC130003597, LOC130003598, LOC130003599, LOC130003600, LOC130003601, LOC130003602, LOC130003603, LOC130003604, LOC130003605, LOC130003606, LOC130003607, LOC130003608, LOC130003609, LOC130003610, LOC130003611, LOC130003612, LOC130003613, LOC130003614, LOC130003615, LOC130003616, LOC130003617, LOC130003618, LOC130003619, LOC130003620, LOC130003621, LOC130003622, LOC130003623, LOC130003624, LOC130003625, LOC130003626, LOC130003627, LOC130003628, LOC130003629, LOC130003630, LOC130003631, LOC130003632, LOC130003633, LOC130003634, LOC130003635, LOC130003636, LOC130003637, LOC130003638, LOC130003639, LOC130003640, LOC130003641, LOC130003642, LOC130003643, LOC130003644, LOC130003645, LOC130003646, LOC130003647, LOC130003648, LOC130003649, LOC130003650, LOC130003651, LOC130003652, LOC130003653, LOC130003654, LOC130003655, LOC130003656, LOC130003657, LOC130003658, LOC130003659, LOC130003660, LOC130003661, LOC130003662, LOC130003663, LOC130003664, LOC130003665, LOC130003666, LOC130003667, LOC130003668, LOC130003669, LOC130003670, LOC130003671, LOC130003672, LOC130003673, LOC130003674, LOC130003675, LOC130003676, LOC130003677, LOC130003678, LOC130003679, LOC130003680, LOC130003681, LOC130003682, LOC130003683, LOC130003684, LOC130003685, LOC130003686, LOC130003687, LOC130003688, LOC130003689, LOC130003690, LOC130003691, LOC130003692, LOC130003693, LOC130003694, LOC130003695, LOC130003696, LOC130003697, LOC130003698, LOC130003699, LOC130003700, LOC130003701, LOC130003702, LOC130003703, LOC130003704, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, LOC130003711, LOC130003712, LOC130003713, LOC130003714, LOC130003715, LOC130003716, LOC130003717, LOC130003718, LOC130003719, LOC130003720, LOC130003721, LOC130003722, LOC130003723, LOC130003724, LOC130003725, LOC130003726, LOC130003727, LOC130003728, LOC130003729, LOC130003730, LOC130003731, LOC130003732, LOC130003733, LOC130003734, LOC130003735, LOC130003736, LOC130003737, LOC130003738, LOC130003739, LOC130003740, LOC130003741, LOC130003742, LOC130003743, LOC130003744, LOC130003745, LOC130003746, LOC130003747, LOC130003748, LOC130003749, LOC130003750, LOC130003751, LOC130003752, LOC130003753, LOC130003754, LOC130003755, LOC130003756, LOC130003757, LOC130003758, LOC130003759, LOC130003760, LOC130003761, LOC130003762, LOC130003763, LOC130003764, LOC130003765, LOC130003766, LOC130003767, LOC130003768, LOC130003769, LOC130003770, LOC130003771, LOC130003772, LOC130003773, ABI1, ACBD5, ACBD7, ACBD7-DCLRE1CP1, AGAP10, AGAP4, AGAP9, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ALOX5, ANKRD16, ANKRD26, ANKRD30A, ANTXRL, ANXA8, ANXA8L1, APBB1IP, ARHGAP12, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BAMBI, BEND7, BEND7-DT, BMI1, BMS1, C10orf113, C10orf126, C10orf67, C10orf67-AS1, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CCDC7, CCNY, CCNY-AS1, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CREM, CSGALNACT2, CSGALNACT2-DT, CUBN, CUL2, CXCL12, DCLRE1C, DEPP1, DHTKD1, DNAJC1, EBLN1, ECHDC3, ENKUR, EPC1, EPC1-AS1, FAM107B, FAM171A1, FAM238A, FAM238B, FAM238C, FAM245B, FAM25C, FAM25E, FAM25G, FBH1, FRMD4A, FXYD4, FZD8, GAD2, GATA3, GATA3-AS1, GDF10, GDF2, GDI2, GJD4, GPR158, GPR158-AS1, GPRIN2, HACD1, HNRNPF, HSPA14, IATPR, IL15RA, IL2RA, ITGA8, ITGB1, ITGB1-DT, ITIH2, ITIH5, JCAD, KIAA1217, KIF5B, KIN, LASTR, LINC00619, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC00836, LINC00837, LINC00838, LINC00839, LINC00840, LINC00841, LINC00842, LINC00993, LINC00999, LINC01264, LINC01516, LINC01517, LINC01518, LINC02561, LINC02623, LINC02628, LINC02629, LINC02630, LINC02632, LINC02634, LINC02637, LINC02642, LINC02643, LINC02644, LINC02648, LINC02649, LINC02652, LINC02654, LINC02656, LINC02658, LINC02659, LINC02664, LINC02665, LINC02670, LINC02673, LINC02676, LINC02677, LINC02678, LINC02881, LINC02916, LINC03027, LINC03028, LINC03029, LINP1, LOC100130992, LOC100505502, LOC101928051, LOC101928272, LOC101928453, LOC101928834, LOC101929073, LOC101929279, LOC101929431, LOC102724323, LOC102724593, LOC105376384, LOC105376387, LOC105376390, LOC105376398, LOC105376420, LOC105378269, LOC105378289, LOC105378577, LOC106736614, LOC106783505, LOC106783576, LOC107001062, LOC107275222, LOC107275223, LOC107275226, LOC108004524, LOC108353817, LOC108353819, LOC108903148, LOC108903149, LOC110121348, LOC110121355, LOC110121399, LOC110121405, LOC110121406, LOC110121476, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111464994, LOC111501766, LOC111589212, LOC111818964, LOC111818965, LOC111818966, LOC111818967, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC111946232, LOC111946234, LOC111946236, LOC111946237, LOC111946238, LOC111946239, LOC111946241, LOC111946242, LOC111946244, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC114827857, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, LOC121366047, LOC121366048, LOC121366049, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121811723, LOC121811724, LOC121811725, LOC121811726, LOC121811727, LOC121811728, LOC121811729, LOC121811730, LOC124403905, LOC124403906, LOC124403907, LOC124403908, LOC124403909, LOC124403910, LOC124403911, LOC124403912, LOC124403913, LOC124403914, LOC124403915, LOC124403916, LOC124403917, LOC124403918, LOC124403919, LOC124403920, LOC124403921, LOC124403922, LOC124403923, LOC124403924, LOC124403925, LOC124403926, LOC124403927, LOC124403928, LOC124403929, LOC124403930, LOC124403931, LOC124403932, LOC124403933, LOC124403934, LOC124403935, LOC124403936, LOC124403937, LOC124403938, LOC124403939, LOC124403940, LOC124403941, LOC124403942, LOC124403943, LOC124403944, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC126860845, LOC126860846, LOC126860847, LOC126860848, LOC126860849, LOC126860850, LOC126860851, LOC126860852, LOC126860853, LOC126860854, LOC126860855, LOC126860856, LOC126860857, LOC126860858, LOC126860859, LOC126860860, LOC126860861, LOC126860862, LOC126860863, LOC126860864, LOC126860865, LOC126860866, LOC126860867, LOC126860868, LOC126860869, LOC126860870, LOC126860871, LOC126860872, LOC126860873, LOC126860874, LOC126860875, LOC126860876, LOC126860877, LOC126860878, LOC126860879, LOC126860880, LOC126860881, LOC126860882, LOC126860883, LOC126860884, LOC126860885, LOC126860886, LOC126860887, LOC126860888, LOC126860889, LOC126860890, LOC126860891, LOC126860892, LOC126860893, LOC126860894, LOC126860895, LOC126860896, LOC126860897, LOC126860898, LOC126860899, LOC126860900, LOC126860901, LOC126860902, LOC126860903, LOC126860904, LOC126860905, LOC126860906, LOC126860907, LOC126860908, LOC126860909, LOC126860910, LOC126860911, LOC126860912, LOC126860913, LOC126860914, LOC126860915, LOC126860916, LOC126860917, LOC126860918, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC128462383, LOC128462384, LOC128462385, LOC128462386, LOC128462408, LOC129390123, LOC129390124, LOC129390125, LOC129390126, LOC129390127, LOC129390128, LOC129390129, LOC129390130, LOC129390131, LOC129390132, LOC129390133, LOC129390134, LOC129390135, LOC129390136, LOC129390137, LOC129390138, LOC129390139, LOC129390140, LOC129390141, LOC129390142, LOC129390143, LOC129390144, LOC129390145, LOC129390146, LOC129390147, LOC129390148, LOC129390149, LOC129390150, LOC129390151, LOC129390152, LOC129390153, LOC129390154, LOC129390155, LOC129390156, LOC129390157, LOC129390158, LOC129390159, LOC129390160, LOC129390161, LOC129390162, LOC129390163, LOC129390164, LOC129390165, LOC129390166, LOC129390167, LOC129390168, LOC129390169, LOC130003192, LOC130003193, LOC130003194, LOC130003195, LOC130003196, LOC130003197, LOC130003198, LOC130003199, LOC130003200, LOC130003201, LOC130003202, LOC130003203, LOC130003204, LOC130003205, LOC130003206, LOC130003207, LOC130003208, LOC130003209, LOC130003210, LOC130003211, LOC130003212, LOC130003213, LOC130003214, LOC130003215, LOC130003216, LOC130003217, LOC130003218, LOC130003219, LOC130003220, LOC130003221, LOC130003222, LOC130003223, LOC130003224, LOC130003225, LOC130003226, LOC130003227, LOC130003228, LOC130003229, LOC130003230, LOC130003231, LOC130003232, LOC130003233, LOC130003234, LOC130003235, LOC130003236, LOC130003237, LOC130003238, LOC130003239, LOC130003240, LOC130003241, LOC130003242, LOC130003243, LOC130003244, LOC130003245, LOC130003246, LOC130003247, LOC130003248, LOC130003249, LOC130003250, LOC130003251, LOC130003252, LOC130003253, LOC130003774, LOC132089762, LOC132089763, LOC132089764, LOC132089765, LOC132089766, LOC132089767, LOC132089768, LOC132089769, LOC132089770, LOC132089771, LOC132089772, LOC132089773, LOC132089774, LOC132089775, LOC132089776, LOC132089777, LOC132089778, LOC132089779, LOC132089780, LOC132089781, LOC132089782, LOC132089783, LOC132089784, LOC132089785, LOC132089786, LOC132089787, LOC132089788, LOC132089789, LOC132089790, LOC132089792, LOC132089800, LOC132089802, LOC132089803, LOC132089848, LOC132089861, LOC132089878, LOC132090804, LOC132090805, LOC132090806, LOC132090807, LOC132090808, LOC132090809, LOC132090810, LOC283028, LYZL1, LYZL2, MACORIS, MALRD1, MANCR, MAP3K8, MARCHF8, MASTL, MCM10, MCS+9.7, MEIG1, MINDY3, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR3156-1, MIR3611, MIR4293, MIR4480, MIR4481, MIR4675, MIR4683, MIR5100, MIR511, MIR548AK, MIR548Q, MIR603, MIR604, MIR7162, MIR8086, MIR938, MKX, MKX-AS1, MLLT10, MPP7, MRC1, MSANTD7, MSMB, MSRB2, MTPAP, MTRNR2L7, MYO3A, NCOA4, NEBL, NEBL-AS1, NET1, NMT2, NPY4R, NPY4R2, NRP1, NSUN6, NUDT5, ODAD2, OLAH, OPTN, OR13A1, OTUD1, PARD3, PARD3-DT, PCAT5, PDSS1, PFKFB3, PHYH, PIP4K2A, PLXDC2, PRINS, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PTCHD3, PTER, PTF1A, PTPN20, RAB18, RASGEF1A, RASSF4, RBM17, RBP3, RET, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORA74C-1, SNORA86, SNORD129, SNORD130, SNORD3J, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, SUV39H2-DT, SVIL, SVIL-AS1, SYT15, SYT15-AS1, SYT15B, TAF3, TASOR2, THNSL1, TIMM23, TMEM236, TMEM72, TMEM72-AS1, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WAC, WAC-AS1, WASHC2C, YME1L1, ZEB1, ZEB1-AS1, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF248-AS1, ZNF25, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF33A, ZNF33B, ZNF37A, ZNF438, ZNF485, ZNF487, ZNF488 | | See cases | Benign (Feb 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr10:19377090-33021221
- GRCh38:
- Chr10:19088161-32732293
| ABI1, ACBD5, ANKRD26, APBB1IP, ARHGAP12, ARHGAP21, ARMC3, BAMBI, BMI1, C10orf113, C10orf126, C10orf67, C10orf67-AS1, CCDC7, COMMD3, COMMD3-BMI1, DNAJC1, EBLN1, ENKUR, EPC1, EPC1-AS1, FAM238A, FAM238B, FAM238C, GAD2, GPR158, GPR158-AS1, JCAD, KIAA1217, KIF5B, LINC00836, LINC00837, LINC01516, LINC01517, LINC02643, LINC02644, LINC02652, LINC02664, LINC02673, LINC03027, LINC03028, LOC100130992, LOC100505502, LOC101928834, LOC101929073, LOC101929279, LOC101929431, LOC106783576, LOC108004524, LOC108353817, LOC110121476, LOC111464994, LOC111818964, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC121366046, LOC121366047, LOC121366048, LOC121366049, LOC121811729, LOC124403918, LOC124403919, LOC124403920, LOC124403921, LOC124403922, LOC124403923, LOC124403924, LOC124403925, LOC124403926, LOC124403927, LOC124403928, LOC124403929, LOC124403930, LOC124403931, LOC124403932, LOC126860875, LOC126860876, LOC126860877, LOC126860878, LOC126860879, LOC126860880, LOC126860881, LOC126860882, LOC126860883, LOC126860884, LOC126860885, LOC126860886, LOC126860887, LOC126860888, LOC126860889, LOC126860890, LOC126860891, LOC126860892, LOC126860893, LOC126860894, LOC126860895, LOC126860896, LOC126860897, LOC126860898, LOC126860899, LOC126860900, LOC126860901, LOC126860902, LOC126860903, LOC126860904, LOC126860905, LOC126860906, LOC126860907, LOC126860908, LOC129390148, LOC129390149, LOC129390150, LOC129390151, LOC129390152, LOC129390153, LOC129390154, LOC129390155, LOC129390156, LOC129390157, LOC129390158, LOC129390159, LOC129390160, LOC129390161, LOC129390162, LOC130003462, LOC130003463, LOC130003464, LOC130003465, LOC130003466, LOC130003467, LOC130003468, LOC130003469, LOC130003470, LOC130003471, LOC130003472, LOC130003473, LOC130003474, LOC130003475, LOC130003476, LOC130003477, LOC130003478, LOC130003479, LOC130003480, LOC130003481, LOC130003482, LOC130003483, LOC130003484, LOC130003485, LOC130003486, LOC130003487, LOC130003488, LOC130003489, LOC130003490, LOC130003491, LOC130003492, LOC130003493, LOC130003494, LOC130003495, LOC130003496, LOC130003497, LOC130003498, LOC130003499, LOC130003500, LOC130003501, LOC130003502, LOC130003503, LOC130003504, LOC130003505, LOC130003506, LOC130003507, LOC130003508, LOC130003509, LOC130003510, LOC130003511, LOC130003512, LOC130003513, LOC130003514, LOC130003515, LOC130003516, LOC130003517, LOC130003518, LOC130003519, LOC130003520, LOC130003521, LOC130003522, LOC130003523, LOC130003524, LOC130003525, LOC130003526, LOC130003527, LOC130003528, LOC130003529, LOC130003530, LOC130003531, LOC130003532, LOC130003533, LOC130003534, LOC130003535, LOC130003536, LOC130003537, LOC130003538, LOC130003539, LOC130003540, LOC130003541, LOC130003542, LOC130003543, LOC130003544, LOC130003545, LOC130003546, LOC130003547, LOC130003548, LOC130003549, LOC130003550, LOC130003551, LOC130003552, LOC130003553, LOC130003554, LOC130003555, LOC130003556, LOC130003557, LOC130003558, LOC130003559, LOC130003560, LOC130003561, LOC130003562, LOC130003563, LOC130003564, LOC130003565, LOC130003566, LOC130003567, LOC130003568, LOC130003569, LOC130003570, LOC130003571, LOC130003572, LOC130003573, LOC130003574, LOC130003575, LOC130003576, LOC130003577, LOC130003578, LOC130003579, LOC130003580, LOC130003581, LOC130003582, LOC130003583, LOC130003584, LOC130003585, LOC130003586, LOC130003587, LOC130003588, LOC130003589, LOC130003590, LOC130003591, LOC130003592, LOC130003593, LOC130003594, LOC130003595, LOC130003596, LOC130003597, LOC130003598, LOC130003599, LOC130003600, LOC130003601, LOC130003602, LOC130003603, LOC130003604, LOC130003605, LOC130003606, LOC130003607, LOC130003608, LOC130003609, LOC130003610, LOC130003611, LOC130003612, LOC130003613, LOC130003614, LOC130003615, LOC130003616, LOC130003617, LOC130003618, LOC130003619, LOC130003620, LOC130003621, LOC130003622, LOC130003623, LOC130003624, LOC130003625, LOC130003626, LOC130003627, LOC130003628, LOC130003629, LOC130003630, LOC130003631, LOC130003632, LOC130003633, LOC130003634, LOC130003635, LOC130003636, LOC130003637, LOC130003638, LOC130003639, LOC130003640, LOC130003641, LOC130003642, LOC130003643, LOC130003644, LOC130003645, LOC130003646, LOC130003647, LOC130003648, LOC130003649, LOC130003650, LOC130003651, LOC130003652, LOC130003653, LOC130003654, LOC130003655, LOC130003656, LOC132089765, LOC132089766, LOC132089767, LOC132089768, LOC132089769, LOC132089770, LOC132089771, LOC132089772, LOC132089773, LYZL1, LYZL2, MACORIS, MALRD1, MAP3K8, MASTL, MIR1915, MIR1915HG, MIR4675, MIR603, MIR604, MIR7162, MIR8086, MIR938, MKX, MKX-AS1, MLLT10, MPP7, MSRB2, MTPAP, MYO3A, NEBL, NEBL-AS1, ODAD2, OTUD1, PDSS1, PIP4K2A, PLXDC2, PRINS, PRTFDC1, PTCHD3, PTF1A, RAB18, SKIDA1, SNORD130, SPAG6, SVIL, SVIL-AS1, THNSL1, TRN-GTT2-3, WAC, WAC-AS1, YME1L1, ZEB1, ZEB1-AS1, ZNF438 | | See cases | Likely pathogenic (Aug 14, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:23452642
- GRCh38:
- Chr10:23163713
| PTF1A | | Type II diabetes mellitus | Benign | no assertion criteria provided |
| - GRCh37:
- Chr10:23456513
- GRCh38:
- Chr10:23167584
| PTF1A | | Type II diabetes mellitus | Benign | no assertion criteria provided |
| - GRCh37:
- Chr10:23466734
- GRCh38:
- Chr10:23177805
| PTF1A | | Type II diabetes mellitus | Benign | no assertion criteria provided |
| - GRCh37:
- Chr10:23476431
- GRCh38:
- Chr10:23187502
| PTF1A | | Type II diabetes mellitus | Benign | no assertion criteria provided |
| - GRCh37:
- Chr10:23478779
- GRCh38:
- Chr10:23189850
| PTF1A | | Type II diabetes mellitus | Benign | no assertion criteria provided |
| - GRCh37:
- Chr10:23481217
- GRCh38:
- Chr10:23192288
| PTF1A | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481467
- GRCh38:
- Chr10:23192538
| PTF1A | A3V | Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Uncertain significance (Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23481503
- GRCh38:
- Chr10:23192574
| PTF1A | A15V | not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2 | Conflicting interpretations of pathogenicity (Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:23481541
- GRCh38:
- Chr10:23192612
| PTF1A | T28P | Inborn genetic diseases | Uncertain significance (Apr 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481561
- GRCh38:
- Chr10:23192632
| PTF1A | | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not provided | Benign/Likely benign (Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23481564
- GRCh38:
- Chr10:23192635
| PTF1A | | not provided | Likely benign (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481574
- GRCh38:
- Chr10:23192645
| PTF1A | G39S | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481591
- GRCh38:
- Chr10:23192662
| PTF1A | | not provided | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481592
- GRCh38:
- Chr10:23192663
| PTF1A | D45Y | not provided | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481621
- GRCh38:
- Chr10:23192692
| PTF1A | | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Neonatal insulin-dependent diabetes mellitus, not provided
| Conflicting interpretations of pathogenicity (Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:23481631
- GRCh38:
- Chr10:23192702
| PTF1A | H58Y | not provided | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481645
- GRCh38:
- Chr10:23192716
| PTF1A | | not provided | Likely benign (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481646
- GRCh38:
- Chr10:23192717
| PTF1A | R63C | not provided | Uncertain significance (Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481657
- GRCh38:
- Chr10:23192728
| PTF1A | | not provided | Likely benign (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481660
- GRCh38:
- Chr10:23192731
| PTF1A | | not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Conflicting interpretations of pathogenicity (May 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:23481666
- GRCh38:
- Chr10:23192737
| PTF1A | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481678
- GRCh38:
- Chr10:23192749
| PTF1A | | not provided | Likely benign (Jun 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481684
- GRCh38:
- Chr10:23192755
| PTF1A | | not provided | Likely benign (Dec 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481688
- GRCh38:
- Chr10:23192759
| PTF1A | A77T | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481722
- GRCh38:
- Chr10:23192793
| PTF1A | G88D | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not provided, Inborn genetic diseases
| Uncertain significance (Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23481723
- GRCh38:
- Chr10:23192794
| PTF1A | | not provided | Likely benign (Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481724
- GRCh38:
- Chr10:23192795
| PTF1A | L89I | Inborn genetic diseases, Monogenic diabetes, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not provided | Uncertain significance (Feb 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23481728
- GRCh38:
- Chr10:23192799
| PTF1A | G90A | Monogenic diabetes, Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2, not specified, not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:23481733
- GRCh38:
- Chr10:23192804
| PTF1A | P92T | Inborn genetic diseases | Uncertain significance (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481742
- GRCh38:
- Chr10:23192813
| PTF1A | G95R | Monogenic diabetes | Uncertain significance (May 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481776
- GRCh38:
- Chr10:23192847
| PTF1A | A106E | not provided | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481800
- GRCh38:
- Chr10:23192871
| PTF1A | S114L | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481802
- GRCh38:
- Chr10:23192873
| PTF1A | P115S | Monogenic diabetes | Uncertain significance (Apr 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481821
- GRCh38:
- Chr10:23192892
| PTF1A | C121Y | Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
| Uncertain significance (Jul 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23481823
- GRCh38:
- Chr10:23192894
| PTF1A | L122V | Inborn genetic diseases | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481824
- GRCh38:
- Chr10:23192895
| PTF1A | L122R | Inborn genetic diseases | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481845
- GRCh38:
- Chr10:23192916
| PTF1A | A129V | Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not provided | Benign/Likely benign (Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23481876
- GRCh38:
- Chr10:23192947
| PTF1A | | not provided | Likely benign (Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481889-23481897
- GRCh38:
- Chr10:23192960-23192968
| PTF1A | | not provided | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481896-23481919
- GRCh38:
- Chr10:23192967-23192990
| PTF1A | | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Pathogenic (Aug 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr10:23481897-23481898
- GRCh38:
- Chr10:23192968-23192969
| PTF1A | R153fs | not provided | Uncertain significance (Aug 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481899
- GRCh38:
- Chr10:23192970
| PTF1A | A147V | Monogenic diabetes | Uncertain significance (May 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481905
- GRCh38:
- Chr10:23192976
| PTF1A | A149V | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Inborn genetic diseases, not provided
| Uncertain significance (Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23481921
- GRCh38:
- Chr10:23192992
| PTF1A | | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not provided | Conflicting interpretations of pathogenicity (Aug 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:23481958
- GRCh38:
- Chr10:23193029
| PTF1A | A167T | not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not specified
| Conflicting interpretations of pathogenicity (Sep 21, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:23481979
- GRCh38:
- Chr10:23193050
| PTF1A | R174W | Monogenic diabetes | Uncertain significance (Aug 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23481991
- GRCh38:
- Chr10:23193062
| PTF1A | S178fs | not provided | Likely pathogenic (Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482008
- GRCh38:
- Chr10:23193079
| PTF1A | | not provided | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482009
- GRCh38:
- Chr10:23193080
| PTF1A | E184Q | Inborn genetic diseases | Uncertain significance (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482030
- GRCh38:
- Chr10:23193101
| PTF1A | P191T | Kallikrein, decreased urinary activity of, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Pathogenic/Likely pathogenic (May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23482076
- GRCh38:
- Chr10:23193147
| PTF1A | R206L | Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
| Uncertain significance (Oct 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23482083
- GRCh38:
- Chr10:23193154
| PTF1A | | not provided | Likely benign (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482088
- GRCh38:
- Chr10:23193159
| PTF1A | G210A | Inborn genetic diseases | Uncertain significance (Jun 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482113
- GRCh38:
- Chr10:23193184
| PTF1A | | not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:23482123
- GRCh38:
- Chr10:23193194
| PTF1A | D222Y | not provided | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482132
- GRCh38:
- Chr10:23193203
| PTF1A | L225V | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2 | Uncertain significance (Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482140
- GRCh38:
- Chr10:23193211
| PTF1A | | not provided | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482151
- GRCh38:
- Chr10:23193222
| PTF1A | G231D | not provided | Uncertain significance (Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482156
- GRCh38:
- Chr10:23193227
| PTF1A | C233G | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482157-23482174
- GRCh38:
- Chr10:23193228-23193245
| PTF1A | | not provided, Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
| Uncertain significance (Apr 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23482158-23482159
- GRCh38:
- Chr10:23193229-23193230
| PTF1A | P236fs | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Pathogenic (Dec 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr10:23482159
- GRCh38:
- Chr10:23193230
| PTF1A | P236fs | not provided | Pathogenic (Aug 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482164
- GRCh38:
- Chr10:23193235
| PTF1A | | not provided | Likely benign (Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482170
- GRCh38:
- Chr10:23193241
| PTF1A | | not provided | Likely benign (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482172
- GRCh38:
- Chr10:23193243
| PTF1A | G238D | not provided, Inborn genetic diseases | Uncertain significance (May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23482181
- GRCh38:
- Chr10:23193252
| PTF1A | R241H | not provided | Uncertain significance (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482187
- GRCh38:
- Chr10:23193258
| PTF1A | G243V | PTF1A-related condition | Uncertain significance (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482199
- GRCh38:
- Chr10:23193270
| PTF1A | P247L | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482208
- GRCh38:
- Chr10:23193279
| PTF1A | Q250L | not provided | Uncertain significance (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482244
- GRCh38:
- Chr10:23193315
| PTF1A | | Maturity onset diabetes mellitus in young | Pathogenic (Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482363
- GRCh38:
- Chr10:23193434
| PTF1A | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482393-23482394
- GRCh38:
- Chr10:23193464-23193465
| PTF1A | | not provided | Benign (May 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482393
- GRCh38:
- Chr10:23193464
| PTF1A | | not provided | Benign (May 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482623
- GRCh38:
- Chr10:23193694
| PTF1A | | not specified | Uncertain significance (May 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482635
- GRCh38:
- Chr10:23193706
| PTF1A | S263P | Pancreatic beta cell agenesis with neonatal diabetes mellitus, Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus, not provided | Conflicting interpretations of pathogenicity (Oct 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:23482651
- GRCh38:
- Chr10:23193722
| PTF1A | D268A | Inborn genetic diseases | Uncertain significance (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482656
- GRCh38:
- Chr10:23193727
| PTF1A | D270H | not provided | Uncertain significance (Aug 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482698
- GRCh38:
- Chr10:23193769
| PTF1A | T284A | Inborn genetic diseases | Uncertain significance (May 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482699
- GRCh38:
- Chr10:23193770
| PTF1A | T284N | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482715
- GRCh38:
- Chr10:23193786
| PTF1A | | not provided | Likely benign (Oct 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482734
- GRCh38:
- Chr10:23193805
| PTF1A | R296* | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Pathogenic (Dec 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr10:23482739
- GRCh38:
- Chr10:23193810
| PTF1A | | not provided | Likely benign (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482777
- GRCh38:
- Chr10:23193848
| PTF1A | N310S | Inborn genetic diseases | Uncertain significance (Aug 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482786
- GRCh38:
- Chr10:23193857
| PTF1A | S313F | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482804
- GRCh38:
- Chr10:23193875
| PTF1A | E319G | not provided | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482808
- GRCh38:
- Chr10:23193879
| PTF1A | N320K | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Monogenic diabetes | Uncertain significance (Jul 27, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23482817
- GRCh38:
- Chr10:23193888
| PTF1A | | not provided | Benign (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482817
- GRCh38:
- Chr10:23193888
| PTF1A | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482835
- GRCh38:
- Chr10:23193906
| PTF1A | | Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482850
- GRCh38:
- Chr10:23193921
| PTF1A | | Pancreatic agenesis 2, not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
| Benign (Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23482952
- GRCh38:
- Chr10:23194023
| PTF1A | | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482958-23482961
- GRCh38:
- Chr10:23194029-23194032
| PTF1A | | Permanent neonatal diabetes mellitus | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23482992-23482994
- GRCh38:
- Chr10:23194063-23194065
| PTF1A | | Permanent neonatal diabetes mellitus, not provided | Benign/Likely benign (May 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23483025
- GRCh38:
- Chr10:23194096
| PTF1A | | not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Benign/Likely benign (Nov 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:23483100
- GRCh38:
- Chr10:23194171
| PTF1A | | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23483107
- GRCh38:
- Chr10:23194178
| PTF1A | | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:23483118
- GRCh38:
- Chr10:23194189
| PTF1A | | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |