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Items: 1 to 100 of 136

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesUncertain significance
(Oct 15, 2012)
no assertion criteria provided
5.
GRCh37:
Chr2:101850532-106295614
GRCh38:
Chr2:101234070-105679157
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
6.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
7.
GRCh37:
Chr2:102700735-106702359
GRCh38:
Chr2:102084275-106085903
See casesLikely pathogenic
(Jan 5, 2011)
no assertion criteria provided
8.
GRCh37:
Chr2:104998180-107928915
GRCh38:
Chr2:104381722-107312459
See casesLikely pathogenic
(Nov 30, 2010)
no assertion criteria provided
9.
GRCh37:
Chr2:105263100-105680562
GRCh38:
Chr2:104646642-105064104
See casesLikely pathogenic
(Oct 24, 2012)
no assertion criteria provided
10.
GRCh37:
Chr2:105471969
GRCh38:
Chr2:104855511
POU3F3M1Vnot providedUncertain significance
(May 2, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:105471976
GRCh38:
Chr2:104855518
POU3F3T3Rnot providedUncertain significance
(May 25, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:105471989
GRCh38:
Chr2:104855531
POU3F3not providedLikely benign
(Sep 1, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr2:105472043
GRCh38:
Chr2:104855585
POU3F3D25EInborn genetic diseasesUncertain significance
(Mar 21, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr2:105472050
GRCh38:
Chr2:104855592
POU3F3G28RPOU3F3-related conditionUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr2:105472058
GRCh38:
Chr2:104855600
POU3F3not providedBenign
(Apr 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:105472066
GRCh38:
Chr2:104855608
POU3F3G33ESnijders blok-fisher syndromeUncertain significance
(Feb 9, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr2:105472070-105472071
GRCh38:
Chr2:104855612-104855613
POU3F3not providedLikely benign
(Feb 1, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr2:105472083-105472091
GRCh38:
Chr2:104855625-104855633
POU3F3Inborn genetic diseasesLikely benign
(Nov 2, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr2:105472086-105472103
GRCh38:
Chr2:104855628-104855645
POU3F3not providedLikely benign
(Apr 1, 2023)
criteria provided, single submitter
20.
GRCh37:
Chr2:105472088
GRCh38:
Chr2:104855630
POU3F3not providedLikely benign
(Apr 1, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr2:105472088-105472089
GRCh38:
Chr2:104855630-104855631
POU3F3Inborn genetic diseases, not providedBenign
(Aug 17, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr2:105472089
GRCh38:
Chr2:104855631
POU3F3G42fsInborn genetic diseasesLikely pathogenic
(Jun 21, 2019)
criteria provided, single submitter
23.
GRCh37:
Chr2:105472105
GRCh38:
Chr2:104855647
POU3F3G46AInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr2:105472131
GRCh38:
Chr2:104855673
POU3F3S55RSnijders blok-fisher syndromeUncertain significance
(Jan 29, 2023)
criteria provided, single submitter
25.
GRCh37:
Chr2:105472132
GRCh38:
Chr2:104855674
POU3F3S55Tnot providedUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr2:105472158-105472159
GRCh38:
Chr2:104855700-104855701
POU3F3D66fsSnijders blok-fisher syndromePathogenic
(Dec 31, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr2:105472159
GRCh38:
Chr2:104855701
POU3F3R64LPOU3F3-related conditionUncertain significance
(Sep 2, 2023)
criteria provided, single submitter
28.
GRCh37:
Chr2:105472164-105472165
GRCh38:
Chr2:104855706-104855707
POU3F3D66fsSnijders blok-fisher syndromePathogenic
(Oct 3, 2019)
no assertion criteria provided
29.
GRCh37:
Chr2:105472170
GRCh38:
Chr2:104855712
POU3F3S68AInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr2:105472177-105472181
GRCh38:
Chr2:104855719-104855723
POU3F3V70fsDevelopmental disorderPathogenic
(Jan 27, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr2:105472190
GRCh38:
Chr2:104855732
POU3F3Q74HInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:105472192
GRCh38:
Chr2:104855734
POU3F3S75NInborn genetic diseasesUncertain significance
(May 26, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr2:105472206
GRCh38:
Chr2:104855748
POU3F3G80WInborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr2:105472208-105472229
GRCh38:
Chr2:104855750-104855771
POU3F3M82fsnot providedLikely pathogenic
(May 6, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:105472209
GRCh38:
Chr2:104855751
POU3F3A81TInborn genetic diseasesUncertain significance
(Nov 12, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr2:105472221
GRCh38:
Chr2:104855763
POU3F3S85RSee casesUncertain significance
(Nov 9, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr2:105472222
GRCh38:
Chr2:104855764
POU3F3S85TInborn genetic diseasesUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr2:105472248
GRCh38:
Chr2:104855790
POU3F3A94Tnot providedUncertain significance
(Jan 26, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr2:105472263
GRCh38:
Chr2:104855805
POU3F3T99PInborn genetic diseasesUncertain significance
(Feb 25, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr2:105472273
GRCh38:
Chr2:104855815
POU3F3P102LInborn genetic diseasesUncertain significance
(Jan 30, 2020)
criteria provided, single submitter
41.
GRCh37:
Chr2:105472298
GRCh38:
Chr2:104855840
POU3F3not providedBenign
(Aug 1, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr2:105472306
GRCh38:
Chr2:104855848
POU3F3A113Vnot providedUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr2:105472308
GRCh38:
Chr2:104855850
POU3F3A114Snot providedUncertain significance
(Sep 16, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr2:105472334
GRCh38:
Chr2:104855876
POU3F3W122*not providedLikely pathogenic
(Jul 27, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr2:105472337
GRCh38:
Chr2:104855879
POU3F3not providedLikely benign
(Sep 1, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr2:105472350
GRCh38:
Chr2:104855892
POU3F3G128Cnot providedUncertain significance
(Mar 6, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr2:105472360-105472369
GRCh38:
Chr2:104855902-104855911
POU3F3P133fsSnijders blok-fisher syndromePathogenic
(Dec 13, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr2:105472378
GRCh38:
Chr2:104855920
POU3F3P137Qnot provided, Inborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:105472381
GRCh38:
Chr2:104855923
POU3F3Q138PInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr2:105472395
GRCh38:
Chr2:104855937
POU3F3P143Anot providedUncertain significance
(Jan 20, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:105472482
GRCh38:
Chr2:104856024
POU3F3L172Fnot providedUncertain significance
(Jan 27, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:105472488
GRCh38:
Chr2:104856030
POU3F3P175fsnot providedPathogenic
(Jul 18, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr2:105472498
GRCh38:
Chr2:104856040
POU3F3P177LInborn genetic diseasesUncertain significance
(Nov 16, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr2:105472502
GRCh38:
Chr2:104856044
POU3F3not providedLikely benign
(Mar 1, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr2:105472504
GRCh38:
Chr2:104856046
POU3F3P179LSnijders blok-fisher syndromeUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr2:105472517
GRCh38:
Chr2:104856059
POU3F3not providedConflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr2:105472529
GRCh38:
Chr2:104856071
POU3F3W187*Snijders blok-fisher syndromeLikely pathogenic
(Jul 6, 2023)
criteria provided, single submitter
58.
GRCh37:
Chr2:105472534
GRCh38:
Chr2:104856076
POU3F3A189VInborn genetic diseasesUncertain significance
(May 10, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:105472536
GRCh38:
Chr2:104856078
POU3F3A190Pnot providedUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr2:105472556
GRCh38:
Chr2:104856098
POU3F3not providedLikely benign
(Feb 1, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr2:105472559-105472560
GRCh38:
Chr2:104856101-104856102
POU3F3Inborn genetic diseasesLikely benign
(Jan 12, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr2:105472572-105472573
GRCh38:
Chr2:104856114-104856115
POU3F3A202Lnot providedUncertain significance
(Nov 27, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr2:105472580-105472581
GRCh38:
Chr2:104856122-104856123
POU3F3S208fsInborn genetic diseasesPathogenic
(Jul 14, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr2:105472585-105472600
GRCh38:
Chr2:104856127-104856142
POU3F3L206fsSnijders blok-fisher syndromeLikely pathogenic
(Nov 25, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr2:105472588
GRCh38:
Chr2:104856130
POU3F3P207Lnot providedUncertain significance
(Mar 30, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr2:105472602
GRCh38:
Chr2:104856144
POU3F3G212SInborn genetic diseasesUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr2:105472621-105472622
GRCh38:
Chr2:104856163-104856164
POU3F3L220fsnot providedPathogenic
(Sep 12, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr2:105472626
GRCh38:
Chr2:104856168
POU3F3L220VInborn genetic diseasesUncertain significance
(May 25, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr2:105472636
GRCh38:
Chr2:104856178
POU3F3S223*Snijders blok-fisher syndromePathogenic
(Oct 3, 2019)
no assertion criteria provided
70.
GRCh37:
Chr2:105472689
GRCh38:
Chr2:104856231
POU3F3G241SInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr2:105472690
GRCh38:
Chr2:104856232
POU3F3G241ASnijders blok-fisher syndromeUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr2:105472710
GRCh38:
Chr2:104856252
POU3F3G248SInborn genetic diseasesUncertain significance
(Jun 23, 2023)
criteria provided, single submitter
73.
GRCh37:
Chr2:105472719
GRCh38:
Chr2:104856261
POU3F3A251TInborn genetic diseasesUncertain significance
(Sep 14, 2023)
criteria provided, single submitter
74.
GRCh37:
Chr2:105472739
GRCh38:
Chr2:104856281
POU3F3L259fsSnijders blok-fisher syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr2:105472759
GRCh38:
Chr2:104856301
POU3F3T264Knot providedUncertain significance
(Jan 10, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr2:105472801
GRCh38:
Chr2:104856343
POU3F3A278VInborn genetic diseasesUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr2:105472816
GRCh38:
Chr2:104856358
POU3F3P283RSnijders blok-fisher syndromeUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr2:105472850-105472858
GRCh38:
Chr2:104856392-104856400
POU3F3not providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
79.
GRCh37:
Chr2:105472890
GRCh38:
Chr2:104856432
POU3F3H308Nnot providedUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr2:105472897
GRCh38:
Chr2:104856439
POU3F3P310Lnot providedUncertain significance
(Dec 30, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr2:105472899
GRCh38:
Chr2:104856441
POU3F3H311YPOU3F3-related conditionUncertain significance
(Aug 15, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr2:105472935
GRCh38:
Chr2:104856477
POU3F3E323*Snijders blok-fisher syndromePathogenic
(Jan 1, 2020)
no assertion criteria provided
83.
GRCh37:
Chr2:105472951
GRCh38:
Chr2:104856493
POU3F3Q328PSnijders blok-fisher syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:105472954-105472968
GRCh38:
Chr2:104856496-104856510
POU3F3Inborn genetic diseasesLikely pathogenic
(Feb 19, 2020)
criteria provided, single submitter
85.
GRCh37:
Chr2:105472966
GRCh38:
Chr2:104856508
POU3F3R333PSnijders blok-fisher syndromeLikely pathogenic
(Jul 2, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr2:105472977
GRCh38:
Chr2:104856519
POU3F3G337SSnijders blok-fisher syndromeLikely pathogenic
(Sep 29, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr2:105472986-105472987
GRCh38:
Chr2:104856528-104856529
POU3F3Q340LSnijders blok-fisher syndromeLikely pathogenic
(Nov 6, 2020)
criteria provided, single submitter
88.
GRCh37:
Chr2:105472987
GRCh38:
Chr2:104856529
POU3F3Q340PSnijders blok-fisher syndromeLikely pathogenic
(May 12, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr2:105472997
GRCh38:
Chr2:104856539
POU3F3L345fsInborn genetic diseasesLikely pathogenic
(Feb 13, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr2:105473038
GRCh38:
Chr2:104856580
POU3F3Q357Rnot providedUncertain significance
(Aug 8, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr2:105473052
GRCh38:
Chr2:104856594
POU3F3R362GSnijders blok-fisher syndromeUncertain significance
(Aug 1, 2023)
criteria provided, single submitter
92.
GRCh37:
Chr2:105473052
GRCh38:
Chr2:104856594
POU3F3R362SSnijders blok-fisher syndromePathogenicno assertion criteria provided
93.
GRCh37:
Chr2:105473053
GRCh38:
Chr2:104856595
POU3F3R362Lnot provided, Snijders blok-fisher syndromePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:105473107
GRCh38:
Chr2:104856649
POU3F3L380PSnijders blok-fisher syndromeUncertain significancecriteria provided, single submitter
95.
GRCh37:
Chr2:105473113-105473121
GRCh38:
Chr2:104856655-104856663
POU3F3Snijders blok-fisher syndromeLikely pathogenic
(Nov 15, 2021)
no assertion criteria provided
96.
GRCh37:
Chr2:105473133
GRCh38:
Chr2:104856675
POU3F3S389ASnijders blok-fisher syndromeLikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:105473165
GRCh38:
Chr2:104856707
POU3F3I400fsInborn genetic diseasesLikely pathogenic
(Feb 13, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr2:105473185
GRCh38:
Chr2:104856727
POU3F3K406RSnijders blok-fisher syndromeLikely pathogenic
(May 25, 2020)
criteria provided, single submitter
99.
GRCh37:
Chr2:105473188
GRCh38:
Chr2:104856730
POU3F3R407LSnijders blok-fisher syndromeLikely pathogenic
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:105473202-105473212
GRCh38:
Chr2:104856744-104856754
POU3F3S412fsInborn genetic diseasesLikely pathogenic
(Sep 12, 2019)
criteria provided, single submitter
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