| - GRCh37:
- Chr2:95344257-111359986
- GRCh38:
- Chr2:94678532-110602409
| ACTR1B, ADRA2B, AFF3, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, APPAT, ARID5A, ASTL, C2orf15, C2orf49, C2orf49-DT, C2orf92, CCDC138, CD8B2, CHST10, CIAO1, CNGA3, CNNM3, CNNM3-DT, CNNM4, CNOT11, COA5, COX5B, CRACDL, CREG2, DUSP2, ECRG4, EDAR, EIF5B, FAHD2A, FAHD2B, FAM178B, FAM95A, FER1L5, FHL2, FRA2A, GACAT1, GCC2, GCC2-AS1, GPAT2, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, INPP4A, ITPRIPL1, KANSL3, KCNIP3, LIMS1, LIMS1-AS1, LIMS3, LIMS3-LOC440895, LIMS4, LINC00342, LINC01102, LINC01103, LINC01104, LINC01106, LINC01114, LINC01123, LINC01127, LINC01159, LINC01593, LINC01594, LINC01789, LINC01796, LINC01831, LINC01849, LINC01885, LINC01886, LINC01918, LINC01935, LINC02611, LINC02946, LINC03052, LIPT1, LMAN2L, LOC100287010, LOC100506076, LOC101927053, LOC101927383, LOC105373496, LOC105373524, LOC105373525, LOC105373526, LOC107305683, LOC107305684, LOC107305685, LOC107305686, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC110121224, LOC110121226, LOC111721715, LOC111828510, LOC112695110, LOC112695111, LOC112695112, LOC112695113, LOC112695114, LOC112695115, LOC112841606, LOC112841607, LOC112841608, LOC114004366, LOC114827847, LOC120961773, LOC120961774, LOC120961775, LOC120961776, LOC120961777, LOC120961778, LOC121725098, LOC122817709, LOC122817710, LOC122817711, LOC122817712, LOC122817713, LOC122817714, LOC122817715, LOC122817716, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC122817721, LOC122817722, LOC126806270, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, LOC126806276, LOC126806277, LOC126806278, LOC126806279, LOC126806280, LOC126806281, LOC126806282, LOC126806283, LOC126806284, LOC126806285, LOC126806286, LOC126806287, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC126806298, LOC126806299, LOC126806300, LOC126806301, LOC126806302, LOC126806303, LOC126806304, LOC126806305, LOC126806306, LOC128966597, LOC128966744, LOC129388889, LOC129388890, LOC129388891, LOC129388892, LOC129388893, LOC129388894, LOC129388895, LOC129388896, LOC129388897, LOC129388898, LOC129388899, LOC129934287, LOC129934288, LOC129934289, LOC129934290, LOC129934291, LOC129934292, LOC129934293, LOC129934294, LOC129934295, LOC129934296, LOC129934297, LOC129934298, LOC129934299, LOC129934300, LOC129934301, LOC129934302, LOC129934303, LOC129934304, LOC129934305, LOC129934306, LOC129934307, LOC129934308, LOC129934309, LOC129934310, LOC129934311, LOC129934312, LOC129934313, LOC129934314, LOC129934315, LOC129934316, LOC129934317, LOC129934318, LOC129934319, LOC129934320, LOC129934321, LOC129934322, LOC129934323, LOC129934324, LOC129934325, LOC129934326, LOC129934327, LOC129934328, LOC129934329, LOC129934330, LOC129934331, LOC129934332, LOC129934333, LOC129934334, LOC129934335, LOC129934336, LOC129934337, LOC129934338, LOC129934339, LOC129934340, LOC129934341, LOC129934342, LOC129934343, LOC129934344, LOC129934345, LOC129934346, LOC129934347, LOC129934348, LOC129934349, LOC129934350, LOC129934351, LOC129934352, LOC129934353, LOC129934354, LOC129934355, LOC129934356, LOC129934357, LOC129934358, LOC129934359, LOC129934360, LOC129934361, LOC129934362, LOC129934363, LOC129934364, LOC129934365, LOC129934366, LOC129934367, LOC129934368, LOC129934369, LOC129934370, LOC129934371, LOC129934372, LOC129934373, LOC129934374, LOC129934375, LOC129934376, LOC129934377, LOC129934378, LOC129934379, LOC129934380, LOC129934381, LOC129934382, LOC129934383, LOC129934384, LOC129934385, LOC129934386, LOC129934387, LOC129934388, LOC129934389, LOC129934390, LOC129934391, LOC129934392, LOC129934393, LOC129934394, LOC129934395, LOC129934396, LOC129934397, LOC129934398, LOC129934399, LOC129934400, LOC129934401, LOC129934402, LOC129934403, LOC129934404, LOC129934405, LOC129934406, LOC129934407, LOC129934408, LOC129934409, LOC129934410, LOC129934411, LOC129934412, LOC129934413, LOC129934414, LOC129934415, LOC129934416, LOC129934417, LOC129934418, LOC129934419, LOC129934420, LOC129934421, LOC129934422, LOC129934423, LOC129934424, LOC129934425, LOC129934426, LOC129934427, LOC129934428, LOC129934429, LOC129934430, LOC129934431, LOC129934432, LOC129934433, LOC129934434, LOC129934435, LOC129934436, LOC129934437, LOC129934438, LOC129934439, LOC129934440, LOC129934441, LOC129934442, LOC129934443, LOC129934444, LOC129934445, LOC129934446, LOC129934447, LOC129934448, LOC129934449, LOC129934450, LOC129934451, LOC129934452, LOC129934453, LOC129934454, LOC129934455, LOC129934456, LOC129934457, LOC129934458, LOC129934459, LOC129934460, LOC129934461, LOC129934462, LOC129934463, LOC129934464, LOC129934465, LOC129934466, LOC129934467, LOC129934468, LOC129934469, LOC129934470, LOC129934471, LOC129934472, LOC129934473, LOC129934474, LOC129934475, LOC129934476, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, LOC129934487, LOC129934488, LOC129934489, LOC129934490, LOC129934491, LOC129934492, LOC129934493, LOC129934494, LOC129934495, LOC129934496, LOC129934497, LOC129934498, LOC129934499, LOC129934500, LOC129934501, LOC129934502, LOC129934503, LOC129934504, LOC129934505, LOC129934506, LOC129934507, LOC129934508, LOC129934509, LOC129934510, LOC129934511, LOC129934512, LOC129934513, LOC129934514, LOC129934515, LOC129934516, LOC129934517, LOC129934518, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, LOC129934530, LOC129934531, LOC129934532, LOC129934533, LOC129934534, LOC129934535, LOC129934536, LOC129934537, LOC129934538, LOC129934539, LOC129934540, LOC129934541, LOC129934542, LOC129934543, LOC129934544, LOC129934545, LOC129934546, LOC129934547, LOC129934548, LOC129934549, LOC129934550, LOC129934551, LOC129934552, LOC129934553, LOC129934554, LOC129934555, LOC129934556, LOC132088750, LOC442028, LONRF2, LYG1, LYG2, MAL, MALL, MAP4K4, MFSD9, MGAT4A, MIR3127, MIR4265, MIR4266, MIR4267, MIR4436B1, MIR4436B2, MIR4772, MIR5696, MITD1, MRPL30, MRPS5, MRPS9, MRPS9-AS1, MRPS9-AS2, MTLN, NCAPH, NCK2, NEURL3, NMS, NPAS2, NPAS2-AS1, NPHP1, PANTR1, PDCL3, POU3F3, PROM2, RANBP2, REV1, RFX8, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RGPD6, RNF149, RPL31, SEMA4C, SEPTIN10, SH3RF3, SH3RF3-AS1, SLC5A7, SLC9A2, SLC9A4, SNORA112, SNORD89, SNRNP200, SOWAHC, ST6GAL2, STARD7, STARD7-AS1, SULT1C2, SULT1C3, SULT1C4, TBC1D8, TBC1D8-AS1, TEKT4, TGFBRAP1, TMEM127, TMEM131, TMEM182, TRIM43, TRIM43B, TSGA10, TXNDC9, UNC50, UXS1, VWA3B, ZAP70, ZNF2, ZNF514, ZNF892 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:98288985-110968895
- GRCh38:
- Chr2:97672522-110211318
| AFF3, C2orf15, C2orf49, C2orf49-DT, C2orf92, CCDC138, CD8B2, CHST10, CNGA3, CNOT11, COA5, CRACDL, CREG2, ECRG4, EDAR, EIF5B, FHL2, FRA2A, GACAT1, GCC2, GCC2-AS1, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, INPP4A, LIMS1, LIMS1-AS1, LIMS3, LIMS3-LOC440895, LINC01102, LINC01103, LINC01104, LINC01114, LINC01123, LINC01127, LINC01159, LINC01593, LINC01594, LINC01789, LINC01796, LINC01831, LINC01849, LINC01885, LINC01886, LINC01918, LINC01935, LINC02611, LINC02946, LIPT1, LOC100287010, LOC101927383, LOC105373524, LOC105373525, LOC105373526, LOC107305683, LOC107305684, LOC107305685, LOC107305686, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC110121226, LOC111721715, LOC111828510, LOC112695110, LOC112695111, LOC112695112, LOC112695113, LOC112695114, LOC112695115, LOC114004366, LOC114827847, LOC120961773, LOC120961774, LOC120961775, LOC120961776, LOC120961777, LOC120961778, LOC121725098, LOC122817712, LOC122817713, LOC122817714, LOC122817715, LOC122817716, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC122817721, LOC122817722, LOC126806276, LOC126806277, LOC126806278, LOC126806279, LOC126806280, LOC126806281, LOC126806282, LOC126806283, LOC126806284, LOC126806285, LOC126806286, LOC126806287, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC126806298, LOC126806299, LOC126806300, LOC126806301, LOC126806302, LOC126806303, LOC126806304, LOC126806305, LOC126806306, LOC129388892, LOC129388893, LOC129388894, LOC129388895, LOC129388896, LOC129388897, LOC129388898, LOC129388899, LOC129934389, LOC129934390, LOC129934391, LOC129934392, LOC129934393, LOC129934394, LOC129934395, LOC129934396, LOC129934397, LOC129934398, LOC129934399, LOC129934400, LOC129934401, LOC129934402, LOC129934403, LOC129934404, LOC129934405, LOC129934406, LOC129934407, LOC129934408, LOC129934409, LOC129934410, LOC129934411, LOC129934412, LOC129934413, LOC129934414, LOC129934415, LOC129934416, LOC129934417, LOC129934418, LOC129934419, LOC129934420, LOC129934421, LOC129934422, LOC129934423, LOC129934424, LOC129934425, LOC129934426, LOC129934427, LOC129934428, LOC129934429, LOC129934430, LOC129934431, LOC129934432, LOC129934433, LOC129934434, LOC129934435, LOC129934436, LOC129934437, LOC129934438, LOC129934439, LOC129934440, LOC129934441, LOC129934442, LOC129934443, LOC129934444, LOC129934445, LOC129934446, LOC129934447, LOC129934448, LOC129934449, LOC129934450, LOC129934451, LOC129934452, LOC129934453, LOC129934454, LOC129934455, LOC129934456, LOC129934457, LOC129934458, LOC129934459, LOC129934460, LOC129934461, LOC129934462, LOC129934463, LOC129934464, LOC129934465, LOC129934466, LOC129934467, LOC129934468, LOC129934469, LOC129934470, LOC129934471, LOC129934472, LOC129934473, LOC129934474, LOC129934475, LOC129934476, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, LOC129934487, LOC129934488, LOC129934489, LOC129934490, LOC129934491, LOC129934492, LOC129934493, LOC129934494, LOC129934495, LOC129934496, LOC129934497, LOC129934498, LOC129934499, LOC129934500, LOC129934501, LOC129934502, LOC129934503, LOC129934504, LOC129934505, LOC129934506, LOC129934507, LOC129934508, LOC129934509, LOC129934510, LOC129934511, LOC129934512, LOC129934513, LOC129934514, LOC129934515, LOC129934516, LOC129934517, LOC129934518, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, LOC129934530, LOC129934531, LOC129934532, LOC129934533, LOC129934534, LOC129934535, LOC129934536, LOC129934537, LOC129934538, LOC129934539, LOC129934540, LOC129934541, LOC129934542, LOC129934543, LOC129934544, LOC129934545, LOC129934546, LOC129934547, LOC129934548, LOC129934549, LOC129934550, LOC129934551, LOC129934552, LOC129934553, LOC129934554, LOC132088750, LONRF2, LYG1, LYG2, MALL, MAP4K4, MFSD9, MGAT4A, MIR4265, MIR4266, MIR4267, MIR4436B1, MIR4772, MIR5696, MITD1, MRPL30, MRPS9, MRPS9-AS1, MRPS9-AS2, NCK2, NMS, NPAS2, NPAS2-AS1, NPHP1, PANTR1, PDCL3, POU3F3, RANBP2, REV1, RFX8, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RNF149, RPL31, SEPTIN10, SH3RF3, SH3RF3-AS1, SLC5A7, SLC9A2, SLC9A4, SNORD89, SOWAHC, ST6GAL2, SULT1C2, SULT1C3, SULT1C4, TBC1D8, TBC1D8-AS1, TGFBRAP1, TMEM131, TMEM182, TSGA10, TXNDC9, UNC50, UXS1, VWA3B, ZAP70 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:100994972-109089327
- GRCh38:
- Chr2:100378510-108472871
| LINC01935, LINC02946, LOC100287010, LOC101927383, LOC105373524, LOC105373525, LOC105373526, LOC107305683, LOC107305684, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC110121226, LOC111828510, LOC112695110, LOC112695111, LOC114004366, LOC114827847, LOC120961775, LOC120961776, LOC120961777, LOC120961778, LOC121725098, LOC122817716, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC126806284, LOC126806285, LOC126806286, LOC126806287, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC126806298, LOC126806299, LOC126806300, LOC126806301, LOC129388895, LOC129388896, LOC129934444, LOC129934445, LOC129934446, LOC129934447, LOC129934448, LOC129934449, LOC129934450, LOC129934451, LOC129934452, LOC129934453, LOC129934454, LOC129934455, LOC129934456, LOC129934457, LOC129934458, LOC129934459, LOC129934460, LOC129934461, LOC129934462, LOC129934463, LOC129934464, LOC129934465, LOC129934466, LOC129934467, LOC129934468, LOC129934469, LOC129934470, LOC129934471, LOC129934472, LOC129934473, LOC129934474, LOC129934475, LOC129934476, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, LOC129934487, LOC129934488, LOC129934489, LOC129934490, LOC129934491, LOC129934492, LOC129934493, LOC129934494, LOC129934495, LOC129934496, LOC129934497, LOC129934498, LOC129934499, LOC129934500, LOC129934501, LOC129934502, LOC129934503, LOC129934504, LOC129934505, LOC129934506, LOC129934507, LOC129934508, LOC129934509, LOC129934510, LOC129934511, LOC129934512, LOC129934513, LOC129934514, LOC129934515, LOC129934516, LOC129934517, LOC129934518, LOC129934519, LOC129934520, LOC132088750, MAP4K4, MFSD9, MIR4772, MIR5696, MRPS9, MRPS9-AS1, MRPS9-AS2, NCK2, NMS, NPAS2, NPAS2-AS1, PANTR1, PDCL3, POU3F3, RFX8, RGPD3, RGPD4, RGPD4-AS1, RNF149, RPL31, SLC5A7, SLC9A2, SLC9A4, SNORD89, ST6GAL2, SULT1C2, SULT1C3, SULT1C4, TBC1D8, TBC1D8-AS1, TGFBRAP1, TMEM182, UXS1, C2orf49, C2orf49-DT, CD8B2, CHST10, CNOT11, CREG2, ECRG4, FHL2, GACAT1, GCC2, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, LINC01102, LINC01103, LINC01114, LINC01127, LINC01159, LINC01593, LINC01594, LINC01789, LINC01796, LINC01831, LINC01849, LINC01885, LINC01886, LINC01918 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:101094747-107115365
- GRCh38:
- Chr2:100478285-106498909
| C2orf49, C2orf49-DT, CD8B2, CNOT11, CREG2, ECRG4, FHL2, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, LINC01102, LINC01103, LINC01114, LINC01127, LINC01159, LINC01796, LINC01831, LINC01849, LINC01918, LINC01935, LINC02946, LOC100287010, LOC101927383, LOC105373524, LOC105373525, LOC105373526, LOC107305683, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC110121226, LOC111828510, LOC112695110, LOC112695111, LOC114004366, LOC114827847, LOC120961775, LOC120961776, LOC120961777, LOC121725098, LOC122817716, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC126806284, LOC126806285, LOC126806286, LOC126806287, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC126806298, LOC129388895, LOC129934450, LOC129934451, LOC129934452, LOC129934453, LOC129934454, LOC129934455, LOC129934456, LOC129934457, LOC129934458, LOC129934459, LOC129934460, LOC129934461, LOC129934462, LOC129934463, LOC129934464, LOC129934465, LOC129934466, LOC129934467, LOC129934468, LOC129934469, LOC129934470, LOC129934471, LOC129934472, LOC129934473, LOC129934474, LOC129934475, LOC129934476, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, LOC129934487, LOC129934488, LOC129934489, LOC129934490, LOC129934491, LOC129934492, LOC129934493, LOC129934494, LOC129934495, LOC129934496, LOC129934497, LOC129934498, LOC129934499, LOC129934500, LOC129934501, LOC129934502, LOC129934503, LOC129934504, LOC129934505, LOC129934506, LOC129934507, LOC129934508, LOC129934509, LOC129934510, LOC129934511, LOC129934512, LOC129934513, LOC129934514, LOC129934515, LOC129934516, LOC129934517, LOC129934518, LOC132088750, MAP4K4, MFSD9, MIR4772, MIR5696, MRPS9, MRPS9-AS1, MRPS9-AS2, NCK2, NMS, NPAS2, NPAS2-AS1, PANTR1, PDCL3, POU3F3, RFX8, RGPD3, RNF149, RPL31, SLC9A2, SLC9A4, SNORD89, TBC1D8, TBC1D8-AS1, TGFBRAP1, TMEM182, UXS1 | | See cases | Uncertain significance (Oct 15, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:101850532-106295614
- GRCh38:
- Chr2:101234070-105679157
| C2orf49, C2orf49-DT, CNOT11, CREG2, FHL2, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, LINC01102, LINC01103, LINC01114, LINC01127, LINC01159, LINC01796, LINC01831, LINC01918, LINC01935, LINC02946, LOC100287010, LOC101927383, LOC105373524, LOC105373525, LOC105373526, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC111828510, LOC112695110, LOC114827847, LOC120961776, LOC120961777, LOC121725098, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC126806287, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC129388895, LOC129934459, LOC129934460, LOC129934461, LOC129934462, LOC129934463, LOC129934464, LOC129934465, LOC129934466, LOC129934467, LOC129934468, LOC129934469, LOC129934470, LOC129934471, LOC129934472, LOC129934473, LOC129934474, LOC129934475, LOC129934476, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, MAP4K4, MFSD9, MIR4772, MIR5696, MRPS9, MRPS9-AS1, MRPS9-AS2, PANTR1, POU3F3, RFX8, RNF149, SLC9A2, SLC9A4, SNORD89, TGFBRAP1, TMEM182 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:102327287-111548995
- GRCh38:
- Chr2:101710825-110791418
| LOC129934515, LOC129934516, LOC129934517, LOC129934518, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, LOC129934530, LOC129934531, LOC129934532, LOC129934533, LOC129934534, LOC129934535, LOC129934536, LOC129934537, LOC129934538, LOC129934539, LOC129934540, LOC129934541, LOC129934542, LOC129934543, LOC129934544, LOC129934545, LOC129934546, LOC129934547, LOC129934548, LOC129934549, LOC129934550, LOC129934551, LOC129934552, LOC129934553, LOC129934554, LOC129934555, LOC129934556, LOC129934557, LOC129934558, LOC132088750, MALL, MAP4K4, MFSD9, MIR4265, MIR4266, MIR4267, MIR4436B1, MIR4436B2, MIR4772, MRPS9, MRPS9-AS1, MRPS9-AS2, MTLN, NCK2, NPHP1, PANTR1, POU3F3, RANBP2, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RGPD6, SEPTIN10, SH3RF3, SH3RF3-AS1, SLC5A7, SLC9A2, SLC9A4, SNORD132, SOWAHC, ST6GAL2, SULT1C2, SULT1C3, SULT1C4, TGFBRAP1, TMEM182, UXS1, ACOXL, BUB1, C2orf49, C2orf49-DT, CCDC138, CD8B2, ECRG4, EDAR, FHL2, GACAT1, GCC2, GCC2-AS1, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, LIMS1, LIMS1-AS1, LIMS3, LIMS3-LOC440895, LIMS4, LINC01102, LINC01103, LINC01106, LINC01114, LINC01123, LINC01127, LINC01159, LINC01593, LINC01594, LINC01789, LINC01796, LINC01831, LINC01885, LINC01886, LINC01918, LINC01935, LINC02946, LOC100287010, LOC101927383, LOC105373524, LOC105373525, LOC105373526, LOC105373553, LOC107305683, LOC107305684, LOC107305685, LOC107305686, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC111828510, LOC112695110, LOC112695111, LOC112695112, LOC112695113, LOC112695114, LOC112695115, LOC114004366, LOC114827847, LOC120961777, LOC120961778, LOC121725098, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC122817721, LOC122817722, LOC122817723, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC126806298, LOC126806299, LOC126806300, LOC126806301, LOC126806302, LOC126806303, LOC126806304, LOC126806305, LOC126806306, LOC128966597, LOC129388895, LOC129388896, LOC129388897, LOC129388898, LOC129388899, LOC129934470, LOC129934471, LOC129934472, LOC129934473, LOC129934474, LOC129934475, LOC129934476, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, LOC129934487, LOC129934488, LOC129934489, LOC129934490, LOC129934491, LOC129934492, LOC129934493, LOC129934494, LOC129934495, LOC129934496, LOC129934497, LOC129934498, LOC129934499, LOC129934500, LOC129934501, LOC129934502, LOC129934503, LOC129934504, LOC129934505, LOC129934506, LOC129934507, LOC129934508, LOC129934509, LOC129934510, LOC129934511, LOC129934512, LOC129934513, LOC129934514 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:102700735-106702359
- GRCh38:
- Chr2:102084275-106085903
| C2orf49, C2orf49-DT, ECRG4, FHL2, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1RL1, IL1RL2, LINC01102, LINC01103, LINC01114, LINC01159, LINC01796, LINC01831, LINC01918, LINC01935, LINC02946, LOC100287010, LOC101927383, LOC105373524, LOC105373525, LOC105373526, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC111828510, LOC112695110, LOC114827847, LOC120961777, LOC121725098, LOC122817719, LOC122817720, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC126806298, LOC129388895, LOC129934471, LOC129934472, LOC129934473, LOC129934474, LOC129934475, LOC129934476, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, LOC129934487, LOC129934488, LOC129934489, LOC129934490, LOC129934491, LOC129934492, LOC129934493, LOC129934494, LOC129934495, LOC129934496, LOC129934497, LOC129934498, LOC129934499, LOC129934500, LOC129934501, LOC129934502, LOC129934503, LOC129934504, LOC129934505, LOC129934506, LOC129934507, LOC129934508, LOC129934509, LOC129934510, LOC132088750, MFSD9, MIR4772, MRPS9, MRPS9-AS1, MRPS9-AS2, NCK2, PANTR1, POU3F3, SLC9A2, SLC9A4, TGFBRAP1, TMEM182 | | See cases | Likely pathogenic (Jan 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:104998180-107928915
- GRCh38:
- Chr2:104381722-107312459
| C2orf49, C2orf49-DT, CD8B2, ECRG4, FHL2, GPR45, LINC01102, LINC01103, LINC01114, LINC01159, LINC01789, LINC01831, LINC01918, LINC02946, LOC100287010, LOC101927383, LOC105373524, LOC105373525, LOC105373526, LOC107305683, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110121001, LOC110121017, LOC110121135, LOC110121140, LOC112695110, LOC112695111, LOC114004366, LOC114827847, LOC121725098, LOC122817719, LOC122817720, LOC126806296, LOC126806297, LOC126806298, LOC126806299, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, LOC129934487, LOC129934488, LOC129934489, LOC129934490, LOC129934491, LOC129934492, LOC129934493, LOC129934494, LOC129934495, LOC129934496, LOC129934497, LOC129934498, LOC129934499, LOC129934500, LOC129934501, LOC129934502, LOC129934503, LOC129934504, LOC129934505, LOC129934506, LOC129934507, LOC129934508, LOC129934509, LOC129934510, LOC129934511, LOC129934512, LOC129934513, LOC129934514, LOC129934515, LOC129934516, LOC129934517, LOC129934518, LOC132088750, MRPS9, MRPS9-AS1, MRPS9-AS2, NCK2, PANTR1, POU3F3, RGPD3, ST6GAL2, TGFBRAP1, UXS1 | | See cases | Likely pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:105263100-105680562
- GRCh38:
- Chr2:104646642-105064104
| LINC01114, LINC01159, LOC101927383, LOC105373526, LOC110120814, LOC110120821, LOC110121017, LOC110121140, LOC112695110, LOC122817719, LOC122817720, LOC126806296, LOC126806297, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, MRPS9, MRPS9-AS2, PANTR1, POU3F3 | | See cases | Likely pathogenic (Oct 24, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:105471969
- GRCh38:
- Chr2:104855511
| POU3F3 | M1V | not provided | Uncertain significance (May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105471976
- GRCh38:
- Chr2:104855518
| POU3F3 | T3R | not provided | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105471989
- GRCh38:
- Chr2:104855531
| POU3F3 | | not provided | Likely benign (Sep 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472043
- GRCh38:
- Chr2:104855585
| POU3F3 | D25E | Inborn genetic diseases | Uncertain significance (Mar 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472050
- GRCh38:
- Chr2:104855592
| POU3F3 | G28R | POU3F3-related condition | Uncertain significance (Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472058
- GRCh38:
- Chr2:104855600
| POU3F3 | | not provided | Benign (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472066
- GRCh38:
- Chr2:104855608
| POU3F3 | G33E | Snijders blok-fisher syndrome | Uncertain significance (Feb 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472070-105472071
- GRCh38:
- Chr2:104855612-104855613
| POU3F3 | | not provided | Likely benign (Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472083-105472091
- GRCh38:
- Chr2:104855625-104855633
| POU3F3 | | Inborn genetic diseases | Likely benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472086-105472103
- GRCh38:
- Chr2:104855628-104855645
| POU3F3 | | not provided | Likely benign (Apr 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472088
- GRCh38:
- Chr2:104855630
| POU3F3 | | not provided | Likely benign (Apr 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472088-105472089
- GRCh38:
- Chr2:104855630-104855631
| POU3F3 | | Inborn genetic diseases, not provided | Benign (Aug 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:105472089
- GRCh38:
- Chr2:104855631
| POU3F3 | G42fs | Inborn genetic diseases | Likely pathogenic (Jun 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472105
- GRCh38:
- Chr2:104855647
| POU3F3 | G46A | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472131
- GRCh38:
- Chr2:104855673
| POU3F3 | S55R | Snijders blok-fisher syndrome | Uncertain significance (Jan 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472132
- GRCh38:
- Chr2:104855674
| POU3F3 | S55T | not provided | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472158-105472159
- GRCh38:
- Chr2:104855700-104855701
| POU3F3 | D66fs | Snijders blok-fisher syndrome | Pathogenic (Dec 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472159
- GRCh38:
- Chr2:104855701
| POU3F3 | R64L | POU3F3-related condition | Uncertain significance (Sep 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472164-105472165
- GRCh38:
- Chr2:104855706-104855707
| POU3F3 | D66fs | Snijders blok-fisher syndrome | Pathogenic (Oct 3, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:105472170
- GRCh38:
- Chr2:104855712
| POU3F3 | S68A | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472177-105472181
- GRCh38:
- Chr2:104855719-104855723
| POU3F3 | V70fs | Developmental disorder | Pathogenic (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472190
- GRCh38:
- Chr2:104855732
| POU3F3 | Q74H | Inborn genetic diseases | Uncertain significance (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472192
- GRCh38:
- Chr2:104855734
| POU3F3 | S75N | Inborn genetic diseases | Uncertain significance (May 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472206
- GRCh38:
- Chr2:104855748
| POU3F3 | G80W | Inborn genetic diseases | Uncertain significance (Jun 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472208-105472229
- GRCh38:
- Chr2:104855750-104855771
| POU3F3 | M82fs | not provided | Likely pathogenic (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472209
- GRCh38:
- Chr2:104855751
| POU3F3 | A81T | Inborn genetic diseases | Uncertain significance (Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472221
- GRCh38:
- Chr2:104855763
| POU3F3 | S85R | See cases | Uncertain significance (Nov 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472222
- GRCh38:
- Chr2:104855764
| POU3F3 | S85T | Inborn genetic diseases | Uncertain significance (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472248
- GRCh38:
- Chr2:104855790
| POU3F3 | A94T | not provided | Uncertain significance (Jan 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472263
- GRCh38:
- Chr2:104855805
| POU3F3 | T99P | Inborn genetic diseases | Uncertain significance (Feb 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472273
- GRCh38:
- Chr2:104855815
| POU3F3 | P102L | Inborn genetic diseases | Uncertain significance (Jan 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472298
- GRCh38:
- Chr2:104855840
| POU3F3 | | not provided | Benign (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472306
- GRCh38:
- Chr2:104855848
| POU3F3 | A113V | not provided | Uncertain significance (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472308
- GRCh38:
- Chr2:104855850
| POU3F3 | A114S | not provided | Uncertain significance (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472334
- GRCh38:
- Chr2:104855876
| POU3F3 | W122* | not provided | Likely pathogenic (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472337
- GRCh38:
- Chr2:104855879
| POU3F3 | | not provided | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472350
- GRCh38:
- Chr2:104855892
| POU3F3 | G128C | not provided | Uncertain significance (Mar 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472360-105472369
- GRCh38:
- Chr2:104855902-104855911
| POU3F3 | P133fs | Snijders blok-fisher syndrome | Pathogenic (Dec 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472378
- GRCh38:
- Chr2:104855920
| POU3F3 | P137Q | not provided, Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:105472381
- GRCh38:
- Chr2:104855923
| POU3F3 | Q138P | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472395
- GRCh38:
- Chr2:104855937
| POU3F3 | P143A | not provided | Uncertain significance (Jan 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472482
- GRCh38:
- Chr2:104856024
| POU3F3 | L172F | not provided | Uncertain significance (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472488
- GRCh38:
- Chr2:104856030
| POU3F3 | P175fs | not provided | Pathogenic (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472498
- GRCh38:
- Chr2:104856040
| POU3F3 | P177L | Inborn genetic diseases | Uncertain significance (Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472502
- GRCh38:
- Chr2:104856044
| POU3F3 | | not provided | Likely benign (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472504
- GRCh38:
- Chr2:104856046
| POU3F3 | P179L | Snijders blok-fisher syndrome | Uncertain significance (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472517
- GRCh38:
- Chr2:104856059
| POU3F3 | | not provided | Conflicting interpretations of pathogenicity (Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:105472529
- GRCh38:
- Chr2:104856071
| POU3F3 | W187* | Snijders blok-fisher syndrome | Likely pathogenic (Jul 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472534
- GRCh38:
- Chr2:104856076
| POU3F3 | A189V | Inborn genetic diseases | Uncertain significance (May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472536
- GRCh38:
- Chr2:104856078
| POU3F3 | A190P | not provided | Uncertain significance (Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472556
- GRCh38:
- Chr2:104856098
| POU3F3 | | not provided | Likely benign (Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472559-105472560
- GRCh38:
- Chr2:104856101-104856102
| POU3F3 | | Inborn genetic diseases | Likely benign (Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472572-105472573
- GRCh38:
- Chr2:104856114-104856115
| POU3F3 | A202L | not provided | Uncertain significance (Nov 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472580-105472581
- GRCh38:
- Chr2:104856122-104856123
| POU3F3 | S208fs | Inborn genetic diseases | Pathogenic (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472585-105472600
- GRCh38:
- Chr2:104856127-104856142
| POU3F3 | L206fs | Snijders blok-fisher syndrome | Likely pathogenic (Nov 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472588
- GRCh38:
- Chr2:104856130
| POU3F3 | P207L | not provided | Uncertain significance (Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472602
- GRCh38:
- Chr2:104856144
| POU3F3 | G212S | Inborn genetic diseases | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472621-105472622
- GRCh38:
- Chr2:104856163-104856164
| POU3F3 | L220fs | not provided | Pathogenic (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472626
- GRCh38:
- Chr2:104856168
| POU3F3 | L220V | Inborn genetic diseases | Uncertain significance (May 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472636
- GRCh38:
- Chr2:104856178
| POU3F3 | S223* | Snijders blok-fisher syndrome | Pathogenic (Oct 3, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:105472689
- GRCh38:
- Chr2:104856231
| POU3F3 | G241S | Inborn genetic diseases | Uncertain significance (Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472690
- GRCh38:
- Chr2:104856232
| POU3F3 | G241A | Snijders blok-fisher syndrome | Uncertain significance (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472710
- GRCh38:
- Chr2:104856252
| POU3F3 | G248S | Inborn genetic diseases | Uncertain significance (Jun 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472719
- GRCh38:
- Chr2:104856261
| POU3F3 | A251T | Inborn genetic diseases | Uncertain significance (Sep 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472739
- GRCh38:
- Chr2:104856281
| POU3F3 | L259fs | Snijders blok-fisher syndrome | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472759
- GRCh38:
- Chr2:104856301
| POU3F3 | T264K | not provided | Uncertain significance (Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472801
- GRCh38:
- Chr2:104856343
| POU3F3 | A278V | Inborn genetic diseases | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472816
- GRCh38:
- Chr2:104856358
| POU3F3 | P283R | Snijders blok-fisher syndrome | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472850-105472858
- GRCh38:
- Chr2:104856392-104856400
| POU3F3 | | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472890
- GRCh38:
- Chr2:104856432
| POU3F3 | H308N | not provided | Uncertain significance (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472897
- GRCh38:
- Chr2:104856439
| POU3F3 | P310L | not provided | Uncertain significance (Dec 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:105472899
- GRCh38:
- Chr2:104856441
| POU3F3 | H311Y | POU3F3-related condition | Uncertain significance (Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472935
- GRCh38:
- Chr2:104856477
| POU3F3 | E323* | Snijders blok-fisher syndrome | Pathogenic (Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:105472951
- GRCh38:
- Chr2:104856493
| POU3F3 | Q328P | Snijders blok-fisher syndrome | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472954-105472968
- GRCh38:
- Chr2:104856496-104856510
| POU3F3 | | Inborn genetic diseases | Likely pathogenic (Feb 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472966
- GRCh38:
- Chr2:104856508
| POU3F3 | R333P | Snijders blok-fisher syndrome | Likely pathogenic (Jul 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472977
- GRCh38:
- Chr2:104856519
| POU3F3 | G337S | Snijders blok-fisher syndrome | Likely pathogenic (Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472986-105472987
- GRCh38:
- Chr2:104856528-104856529
| POU3F3 | Q340L | Snijders blok-fisher syndrome | Likely pathogenic (Nov 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472987
- GRCh38:
- Chr2:104856529
| POU3F3 | Q340P | Snijders blok-fisher syndrome | Likely pathogenic (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105472997
- GRCh38:
- Chr2:104856539
| POU3F3 | L345fs | Inborn genetic diseases | Likely pathogenic (Feb 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105473038
- GRCh38:
- Chr2:104856580
| POU3F3 | Q357R | not provided | Uncertain significance (Aug 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105473052
- GRCh38:
- Chr2:104856594
| POU3F3 | R362G | Snijders blok-fisher syndrome | Uncertain significance (Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105473052
- GRCh38:
- Chr2:104856594
| POU3F3 | R362S | Snijders blok-fisher syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:105473053
- GRCh38:
- Chr2:104856595
| POU3F3 | R362L | not provided, Snijders blok-fisher syndrome | Pathogenic/Likely pathogenic (May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:105473107
- GRCh38:
- Chr2:104856649
| POU3F3 | L380P | Snijders blok-fisher syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr2:105473113-105473121
- GRCh38:
- Chr2:104856655-104856663
| POU3F3 | | Snijders blok-fisher syndrome | Likely pathogenic (Nov 15, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:105473133
- GRCh38:
- Chr2:104856675
| POU3F3 | S389A | Snijders blok-fisher syndrome | Likely pathogenic (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105473165
- GRCh38:
- Chr2:104856707
| POU3F3 | I400fs | Inborn genetic diseases | Likely pathogenic (Feb 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105473185
- GRCh38:
- Chr2:104856727
| POU3F3 | K406R | Snijders blok-fisher syndrome | Likely pathogenic (May 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105473188
- GRCh38:
- Chr2:104856730
| POU3F3 | R407L | Snijders blok-fisher syndrome | Likely pathogenic (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:105473202-105473212
- GRCh38:
- Chr2:104856744-104856754
| POU3F3 | S412fs | Inborn genetic diseases | Likely pathogenic (Sep 12, 2019) | criteria provided, single submitter |