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Items: 1 to 100 of 119

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
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 casesBenign
(Feb 4, 2013)
no assertion criteria provided
3.
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 casesLikely pathogenic
(Aug 14, 2012)
no assertion criteria provided
4.
GRCh37:
Chr10:23452642
GRCh38:
Chr10:23163713
PTF1AType II diabetes mellitusBenignno assertion criteria provided
5.
GRCh37:
Chr10:23456513
GRCh38:
Chr10:23167584
PTF1AType II diabetes mellitusBenignno assertion criteria provided
6.
GRCh37:
Chr10:23466734
GRCh38:
Chr10:23177805
PTF1AType II diabetes mellitusBenignno assertion criteria provided
7.
GRCh37:
Chr10:23476431
GRCh38:
Chr10:23187502
PTF1AType II diabetes mellitusBenignno assertion criteria provided
8.
GRCh37:
Chr10:23478779
GRCh38:
Chr10:23189850
PTF1AType II diabetes mellitusBenignno assertion criteria provided
9.
GRCh37:
Chr10:23481217
GRCh38:
Chr10:23192288
PTF1Anot providedBenign
(Nov 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr10:23481467
GRCh38:
Chr10:23192538
PTF1AA3VPancreatic 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
11.
GRCh37:
Chr10:23481503
GRCh38:
Chr10:23192574
PTF1AA15Vnot 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
12.
GRCh37:
Chr10:23481541
GRCh38:
Chr10:23192612
PTF1AT28PInborn genetic diseasesUncertain significance
(Apr 25, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr10:23481561
GRCh38:
Chr10:23192632
PTF1APermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not providedBenign/Likely benign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr10:23481564
GRCh38:
Chr10:23192635
PTF1Anot providedLikely benign
(Sep 15, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr10:23481574
GRCh38:
Chr10:23192645
PTF1AG39SPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr10:23481591
GRCh38:
Chr10:23192662
PTF1Anot providedLikely benign
(Jun 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr10:23481592
GRCh38:
Chr10:23192663
PTF1AD45Ynot providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr10:23481621
GRCh38:
Chr10:23192692
PTF1APermanent 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
19.
GRCh37:
Chr10:23481631
GRCh38:
Chr10:23192702
PTF1AH58Ynot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr10:23481645
GRCh38:
Chr10:23192716
PTF1Anot providedLikely benign
(Apr 21, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:23481646
GRCh38:
Chr10:23192717
PTF1AR63Cnot providedUncertain significance
(Dec 6, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr10:23481657
GRCh38:
Chr10:23192728
PTF1Anot providedLikely benign
(Aug 3, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:23481660
GRCh38:
Chr10:23192731
PTF1Anot provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeConflicting interpretations of pathogenicity
(May 19, 2022)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr10:23481666
GRCh38:
Chr10:23192737
PTF1Anot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr10:23481678
GRCh38:
Chr10:23192749
PTF1Anot providedLikely benign
(Jun 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr10:23481684
GRCh38:
Chr10:23192755
PTF1Anot providedLikely benign
(Dec 17, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr10:23481688
GRCh38:
Chr10:23192759
PTF1AA77TPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr10:23481722
GRCh38:
Chr10:23192793
PTF1AG88DPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not provided, Inborn genetic diseases
Uncertain significance
(Feb 22, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr10:23481723
GRCh38:
Chr10:23192794
PTF1Anot providedLikely benign
(Feb 2, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr10:23481724
GRCh38:
Chr10:23192795
PTF1AL89IInborn 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
31.
GRCh37:
Chr10:23481728
GRCh38:
Chr10:23192799
PTF1AG90AMonogenic 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
32.
GRCh37:
Chr10:23481733
GRCh38:
Chr10:23192804
PTF1AP92TInborn genetic diseasesUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr10:23481742
GRCh38:
Chr10:23192813
PTF1AG95RMonogenic diabetesUncertain significance
(May 18, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr10:23481776
GRCh38:
Chr10:23192847
PTF1AA106Enot providedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr10:23481800
GRCh38:
Chr10:23192871
PTF1AS114LPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr10:23481802
GRCh38:
Chr10:23192873
PTF1AP115SMonogenic diabetesUncertain significance
(Apr 9, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr10:23481821
GRCh38:
Chr10:23192892
PTF1AC121YPancreatic 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
38.
GRCh37:
Chr10:23481823
GRCh38:
Chr10:23192894
PTF1AL122VInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr10:23481824
GRCh38:
Chr10:23192895
PTF1AL122RInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr10:23481845
GRCh38:
Chr10:23192916
PTF1AA129VPancreatic 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
41.
GRCh37:
Chr10:23481876
GRCh38:
Chr10:23192947
PTF1Anot providedLikely benign
(Jan 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:23481889-23481897
GRCh38:
Chr10:23192960-23192968
PTF1Anot providedUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr10:23481896-23481919
GRCh38:
Chr10:23192967-23192990
PTF1APermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromePathogenic
(Aug 1, 2011)
no assertion criteria provided
44.
GRCh37:
Chr10:23481897-23481898
GRCh38:
Chr10:23192968-23192969
PTF1AR153fsnot providedUncertain significance
(Aug 25, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr10:23481899
GRCh38:
Chr10:23192970
PTF1AA147VMonogenic diabetesUncertain significance
(May 18, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr10:23481905
GRCh38:
Chr10:23192976
PTF1AA149VPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Inborn genetic diseases, not provided
Uncertain significance
(Apr 25, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:23481921
GRCh38:
Chr10:23192992
PTF1APermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not providedConflicting interpretations of pathogenicity
(Aug 6, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr10:23481958
GRCh38:
Chr10:23193029
PTF1AA167Tnot provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, not specified
Conflicting interpretations of pathogenicity
(Sep 21, 2021)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr10:23481979
GRCh38:
Chr10:23193050
PTF1AR174WMonogenic diabetesUncertain significance
(Aug 5, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr10:23481991
GRCh38:
Chr10:23193062
PTF1AS178fsnot providedLikely pathogenic
(Jul 10, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr10:23482008
GRCh38:
Chr10:23193079
PTF1Anot providedLikely benign
(Mar 1, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr10:23482009
GRCh38:
Chr10:23193080
PTF1AE184QInborn genetic diseasesUncertain significance
(Aug 17, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr10:23482030
GRCh38:
Chr10:23193101
PTF1AP191TKallikrein, decreased urinary activity of, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromePathogenic/Likely pathogenic
(May 8, 2023)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr10:23482076
GRCh38:
Chr10:23193147
PTF1AR206LPancreatic 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
55.
GRCh37:
Chr10:23482083
GRCh38:
Chr10:23193154
PTF1Anot providedLikely benign
(Feb 28, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr10:23482088
GRCh38:
Chr10:23193159
PTF1AG210AInborn genetic diseasesUncertain significance
(Jun 29, 2023)
criteria provided, single submitter
57.
GRCh37:
Chr10:23482113
GRCh38:
Chr10:23193184
PTF1Anot provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr10:23482123
GRCh38:
Chr10:23193194
PTF1AD222Ynot providedUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr10:23482132
GRCh38:
Chr10:23193203
PTF1AL225VPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2Uncertain significance
(Jan 31, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:23482140
GRCh38:
Chr10:23193211
PTF1Anot providedLikely benign
(Aug 21, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:23482151
GRCh38:
Chr10:23193222
PTF1AG231Dnot providedUncertain significance
(Jan 28, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:23482156
GRCh38:
Chr10:23193227
PTF1AC233GInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr10:23482157-23482174
GRCh38:
Chr10:23193228-23193245
PTF1Anot provided, Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Uncertain significance
(Apr 17, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:23482158-23482159
GRCh38:
Chr10:23193229-23193230
PTF1AP236fsPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromePathogenic
(Dec 1, 2004)
no assertion criteria provided
65.
GRCh37:
Chr10:23482159
GRCh38:
Chr10:23193230
PTF1AP236fsnot providedPathogenic
(Aug 26, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr10:23482164
GRCh38:
Chr10:23193235
PTF1Anot providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr10:23482170
GRCh38:
Chr10:23193241
PTF1Anot providedLikely benign
(Jul 14, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr10:23482172
GRCh38:
Chr10:23193243
PTF1AG238Dnot provided, Inborn genetic diseasesUncertain significance
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr10:23482181
GRCh38:
Chr10:23193252
PTF1AR241Hnot providedUncertain significance
(Sep 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:23482187
GRCh38:
Chr10:23193258
PTF1AG243VPTF1A-related conditionUncertain significance
(Sep 16, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:23482199
GRCh38:
Chr10:23193270
PTF1AP247LInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
72.
GRCh37:
Chr10:23482208
GRCh38:
Chr10:23193279
PTF1AQ250Lnot providedUncertain significance
(Sep 10, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr10:23482244
GRCh38:
Chr10:23193315
PTF1AMaturity onset diabetes mellitus in youngPathogenic
(Aug 15, 2023)
criteria provided, single submitter
74.
GRCh37:
Chr10:23482363
GRCh38:
Chr10:23193434
PTF1Anot providedBenign
(Nov 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr10:23482393-23482394
GRCh38:
Chr10:23193464-23193465
PTF1Anot providedBenign
(May 16, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr10:23482393
GRCh38:
Chr10:23193464
PTF1Anot providedBenign
(May 25, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr10:23482623
GRCh38:
Chr10:23193694
PTF1Anot specifiedUncertain significance
(May 17, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr10:23482635
GRCh38:
Chr10:23193706
PTF1AS263PPancreatic 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
79.
GRCh37:
Chr10:23482651
GRCh38:
Chr10:23193722
PTF1AD268AInborn genetic diseasesUncertain significance
(Jun 11, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr10:23482656
GRCh38:
Chr10:23193727
PTF1AD270Hnot providedUncertain significance
(Aug 16, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr10:23482698
GRCh38:
Chr10:23193769
PTF1AT284AInborn genetic diseasesUncertain significance
(May 24, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr10:23482699
GRCh38:
Chr10:23193770
PTF1AT284Nnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr10:23482715
GRCh38:
Chr10:23193786
PTF1Anot providedLikely benign
(Oct 24, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr10:23482734
GRCh38:
Chr10:23193805
PTF1AR296*Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromePathogenic
(Dec 1, 2004)
no assertion criteria provided
85.
GRCh37:
Chr10:23482739
GRCh38:
Chr10:23193810
PTF1Anot providedLikely benign
(Aug 13, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr10:23482777
GRCh38:
Chr10:23193848
PTF1AN310SInborn genetic diseasesUncertain significance
(Aug 8, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr10:23482786
GRCh38:
Chr10:23193857
PTF1AS313FInborn genetic diseasesUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:23482804
GRCh38:
Chr10:23193875
PTF1AE319Gnot providedUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr10:23482808
GRCh38:
Chr10:23193879
PTF1AN320KPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Monogenic diabetesUncertain significance
(Jul 27, 2018)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr10:23482817
GRCh38:
Chr10:23193888
PTF1Anot providedBenign
(Dec 15, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr10:23482817
GRCh38:
Chr10:23193888
PTF1Anot providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr10:23482835
GRCh38:
Chr10:23193906
PTF1APancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr10:23482850
GRCh38:
Chr10:23193921
PTF1APancreatic agenesis 2, not provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:23482952
GRCh38:
Chr10:23194023
PTF1APermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr10:23482958-23482961
GRCh38:
Chr10:23194029-23194032
PTF1APermanent neonatal diabetes mellitusUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr10:23482992-23482994
GRCh38:
Chr10:23194063-23194065
PTF1APermanent neonatal diabetes mellitus, not providedBenign/Likely benign
(May 14, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr10:23483025
GRCh38:
Chr10:23194096
PTF1Anot provided, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeBenign/Likely benign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr10:23483100
GRCh38:
Chr10:23194171
PTF1APermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr10:23483107
GRCh38:
Chr10:23194178
PTF1APermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr10:23483118
GRCh38:
Chr10:23194189
PTF1APermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
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