| - GRCh38:
- Chr5:9999-14320000
| ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKRD33B, ATPSCKMT, BRD9, CCDC127, CCT5, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2154B17.1, CTD-2194D22.4, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02162, LINC02199, LINC02212, LINC02213, LINC02220, LINC02221, LINC02226, LINC02236, LINC02982, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC107457585, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997586, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121725197, LOC121725198, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC132089161, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, LSINCT5, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR6075, MIR6131, MNS16A, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SRD5A1, TAS2R1, TENT4A, TERLR1, ZDHHC11, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11B | | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | Pathogenic (Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:22149-5102699
- GRCh38:
- Chr5:22149-5102586
| AHRR, BRD9, CCDC127, CEP72, CEP72-DT, CLPTM1L, CTD-2194D22.4, EXOC3, EXOC3-AS1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01019, LINC01020, LINC01377, LINC01511, LINC02063, LINC02114, LINC02116, LINC02121, LINC02162, LINC02982, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC112997548, LOC112997549, LOC112997586, LOC114827841, LOC116158511, LOC121056758, LOC121725197, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, LSINCT5, MIR4277, MIR4456, MIR4457, MIR4635, MIR6075, MNS16A, MRPL36, NDUFS6, NKD2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, TERLR1, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B | | See cases | Pathogenic (Nov 27, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-21726469
- GRCh38:
- Chr5:22149-21726360
| LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, ZDHHC11, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH18, CDH18-AS1, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02236, LINC02241, LINC02982, LOC100130744, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC107457585, LOC107758904, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC128772262, LOC128772263, LOC128772264, LOC129389254, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129389259, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993708, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993713, LOC129993714, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993727, LOC129993728, LOC129993729, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993737, LOC129993738, LOC129993739, LOC129993740, LOC129993741, LOC129993742, LOC129993743, LOC129993744, LOC132089161 | | See cases | Pathogenic (Aug 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-5060009
- GRCh38:
- Chr5:22149-5059896
| AHRR, BRD9, CCDC127, CEP72, CEP72-DT, CLPTM1L, CTD-2194D22.4, EXOC3, EXOC3-AS1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01019, LINC01020, LINC01377, LINC01511, LINC02063, LINC02114, LINC02116, LINC02162, LINC02982, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC112997548, LOC112997549, LOC112997586, LOC114827841, LOC116158511, LOC121056758, LOC121725197, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, LSINCT5, MIR4277, MIR4456, MIR4457, MIR4635, MIR6075, MNS16A, MRPL36, NDUFS6, NKD2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, TERLR1, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B | | See cases | Pathogenic (Sep 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-27611270
- GRCh38:
- Chr5:22149-27611163
| LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993708, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993713, LOC129993714, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993727, LOC129993728, LOC129993729, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993737, LOC129993738, LOC129993739, LOC129993740, LOC129993741, LOC129993742, LOC129993743, LOC129993744, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LOC132205960, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LINC02982, LOC100130744, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC126807336, LOC128772262, LOC128772263, LOC128772264, LOC129389254, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129389259, LOC129389260, LOC129389261, LOC129389262, LOC129389263, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637 | | See cases | Pathogenic (Aug 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-1659250
- GRCh38:
- Chr5:22149-1659135
| AHRR, BRD9, CCDC127, CEP72, CEP72-DT, CLPTM1L, EXOC3, EXOC3-AS1, LINC01511, LINC02982, LOC108251796, LOC110806263, LOC110806264, LOC112997548, LOC112997549, LOC116158511, LOC121056758, LOC121725197, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132205959, LPCAT1, LRRC14B, MIR4456, MIR4457, MIR4635, MIR6075, MNS16A, NKD2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, TERLR1, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-26594000
- GRCh38:
- Chr5:22149-26593891
| LOC129993741, LOC129993742, LOC129993743, LOC129993744, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LOC132205960, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PRDM9, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, UBE2QL1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LINC02982, LOC100130744, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC128772262, LOC128772263, LOC128772264, LOC129389254, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129389259, LOC129389260, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993708, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993713, LOC129993714, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993727, LOC129993728, LOC129993729, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993737, LOC129993738, LOC129993739, LOC129993740 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-4833739
- GRCh38:
- Chr5:22149-4833626
| AHRR, BRD9, CCDC127, CEP72, CEP72-DT, CLPTM1L, CTD-2194D22.4, EXOC3, EXOC3-AS1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01019, LINC01377, LINC01511, LINC02063, LINC02114, LINC02116, LINC02162, LINC02982, LOC100506858, LOC105374618, LOC105374620, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC112997548, LOC112997549, LOC112997586, LOC114827841, LOC116158511, LOC121056758, LOC121725197, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, LSINCT5, MIR4277, MIR4456, MIR4457, MIR4635, MIR6075, MNS16A, MRPL36, NDUFS6, NKD2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, TERLR1, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B | | See cases | Pathogenic (Jan 9, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-28589299
- GRCh38:
- Chr5:22149-28589192
| ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02103, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LINC02982, LOC100130744, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC126807336, LOC126807337, LOC128772262, LOC128772263, LOC128772264, LOC129389254, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129389259, LOC129389260, LOC129389261, LOC129389262, LOC129389263, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993708, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993713, LOC129993714, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993727, LOC129993728, LOC129993729, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993737, LOC129993738, LOC129993739, LOC129993740, LOC129993741, LOC129993742, LOC129993743, LOC129993744, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LOC132205960, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622 | | See cases | Pathogenic (Sep 26, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-16930125
- GRCh38:
- Chr5:22149-16930016
| MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BRD9, CCDC127, CCT5, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02149, LINC02150, LINC02162, LINC02199, LINC02212, LINC02213, LINC02220, LINC02221, LINC02226, LINC02236, LINC02982, LOC100130744, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC107457585, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997586, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121725197, LOC121725198, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993708, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993713, LOC129993714, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993727, LOC129993728, LOC129993729, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635 | | See cases | Pathogenic (Dec 3, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-3619273
- GRCh38:
- Chr5:22149-3619159
| AHRR, BRD9, CCDC127, CEP72, CEP72-DT, CLPTM1L, CTD-2194D22.4, EXOC3, EXOC3-AS1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01019, LINC01377, LINC01511, LINC02116, LINC02162, LINC02982, LOC100506858, LOC105374618, LOC105374620, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC112997548, LOC112997549, LOC112997586, LOC114827841, LOC116158511, LOC121056758, LOC121725197, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, LSINCT5, MIR4277, MIR4456, MIR4457, MIR4635, MIR6075, MNS16A, MRPL36, NDUFS6, NKD2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, TERLR1, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B | | See cases | Uncertain significance (Oct 23, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-2324057
- GRCh38:
- Chr5:22149-2323943
| LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, MIR4277, MIR4456, MIR4457, MIR4635, MIR6075, MNS16A, MRPL36, NDUFS6, NKD2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, TERLR1, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B, AHRR, BRD9, CCDC127, CEP72, CEP72-DT, CLPTM1L, CTD-2194D22.4, EXOC3, EXOC3-AS1, IRX4, IRX4-AS1, LINC01511, LINC02116, LINC02982, LOC100506858, LOC105374618, LOC107758904, LOC108251796, LOC110120722, LOC110121060, LOC110806263, LOC110806264, LOC112997548, LOC112997549, LOC114827841, LOC116158511, LOC121056758, LOC121725197, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-35831640
- GRCh38:
- Chr5:22149-35831538
| ADAMTS12, ADAMTS16, ADAMTS16-DT, ADCY2, AGXT2, AHRR, AMACR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, BRIX1, C1QTNF3, C1QTNF3-AMACR, C5orf22, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, DNAJC21, DROSHA, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, GOLPH3, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02061, LINC02063, LINC02064, LINC02102, LINC02103, LINC02109, LINC02111, LINC02112, LINC02114, LINC02116, LINC02120, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LINC02982, LOC100130744, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC105374704, LOC105374715, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997593, LOC113002586, LOC113002587, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC124901163, LOC124901178, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807342, LOC126807343, LOC126807344, LOC126807345, LOC126807346, LOC126807347, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807353, LOC126807354, LOC126807355, LOC126807356, LOC126807357, LOC128772262, LOC128772263, LOC128772264, LOC129389254, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129389259, LOC129389260, LOC129389261, LOC129389262, LOC129389263, LOC129389264, LOC129389265, LOC129389266, LOC129389267, LOC129389268, LOC129389269, LOC129389270, LOC129389271, LOC129389272, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993708, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993713, LOC129993714, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993727, LOC129993728, LOC129993729, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993737, LOC129993738, LOC129993739, LOC129993740, LOC129993741, LOC129993742, LOC129993743, LOC129993744, LOC129993745, LOC129993746, LOC129993747, LOC129993748, LOC129993749, LOC129993750, LOC129993751, LOC129993752, LOC129993753, LOC129993754, LOC129993755, LOC129993756, LOC129993757, LOC129993758, LOC129993759, LOC129993760, LOC129993761, LOC129993762, LOC129993763, LOC129993764, LOC129993765, LOC129993766, LOC129993767, LOC129993768, LOC129993769, LOC129993770, LOC129993771, LOC129993772, LOC129993773, LOC129993774, LOC129993775, LOC129993776, LOC129993777, LOC129993778, LOC129993779, LOC129993780, LOC129993781, LOC129993782, LOC129993783, LOC129993784, LOC129993785, LOC129993786, LOC129993787, LOC129993788, LOC129993789, LOC129993790, LOC129993791, LOC129993792, LOC129993793, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089238, LOC132089239, LOC132089240, LOC132089241, LOC132089242, LOC132089243, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132090727, LOC132205959, LOC132205960, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR579, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTMR12, MTRR, MYO10, NDUFS6, NKD2, NPR3, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PDZD2, PLEKHG4B, PRDM9, PRLR, PURPL, RAD1, RAI14, RAI14-DT, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, RXFP3, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SPEF2, SRD5A1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, UBE2QL1, ZDHHC11, ZDHHC11B, ZFR, ZNF622 | | See cases | Pathogenic (Jul 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:22149-73708550
- GRCh38:
- Chr5:22149-74412725
| LOC123497907, LOC123497908, LOC123497909, LOC126807300, LOC126807301, LOC126807323, LOC126807324, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807378, LOC126807404, LOC126807405, LOC128772264, LOC129389254, LOC129389283, LOC129389284, LOC129993540, LOC129993541, LOC129993569, LOC129993570, LOC129993571, LOC129993596, LOC129993597, LOC129993598, LOC129993621, LOC129993622, LOC129993623, LOC129993652, LOC129993653, LOC129993681, LOC129993682, LOC129993708, LOC129993737, LOC129993765, LOC129993766, LOC129993767, LOC129993788, LOC129993789, LOC129993790, LOC129993791, LOC129993792, LOC129993656, LOC129993657, LOC129993683, LOC129993684, LOC129993685, LOC129993626, LOC129993627, LOC129993628, LOC129993686, LOC129993687, LOC129993688, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993713, LOC129993714, LOC129993599, LOC129993624, LOC129993625, LOC129993600, LOC129993601, LOC129993602, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129993738, LOC129993739, LOC129389285, LOC129389286, LOC129389287, LOC126807382, LOC126807383, LOC126807384, LOC129389259, LOC129389260, LOC129389261, LOC129993740, LOC129993741, LOC129993742, LOC129993542, LOC129993543, LOC129389288, LOC126807353, LOC126807379, LOC126807380, LOC126807381, LOC129993544, LOC129993545, LOC129993546, LOC126807303, LOC129993654, LOC129993655, LOC124901163, LOC124901178, LOC126807280, LOC126807354, LOC126807355, LOC126807356, LOC126807302, LOC126807406, LOC126807407, LOC126807408, LOC126807409, LOC126807281, LOC126807282, LOC126807325, LOC126807326, LOC126807327, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC126807283, LOC126807304, LOC126807305, LOC126807328, LOC126807329, LOC126807330, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807385, LOC126807386, LOC126807410, LOC126807411, LOC129389262, LOC129389263, LOC129389264, LOC129389289, LOC129389290, LOC129993547, LOC129993548, LOC129993549, LOC129993577, LOC129993578, LOC129993579, LOC129993603, LOC129993604, LOC129993605, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993658, LOC129993659, LOC129993689, LOC129993690, LOC129993691, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993743, LOC129993744, LOC129993745, LOC129993768, LOC129993769, LOC129993770, LOC129993793, LOC129993794, LOC129993795, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993771, LOC129993772, LOC129993773, LOC129993774, LOC129993782, LOC129993783, LOC129993784, LOC129993787, LOC129993775, LOC129993776, LOC129993777, LOC129993778, LOC129993779, LOC129993780, LOC129993781, LOC129993785, LOC129993786, LOC129993746, LOC129993747, LOC129993748, LOC129993749, LOC129993750, LOC129993751, LOC129993752, LOC129993755, LOC129993756, LOC129993753, LOC129993754, LOC129993757, LOC129993758, LOC129993759, LOC129993760, LOC129993761, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993762, LOC129993763, LOC129993764, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993796, LOC129993797, LOC129993798, LOC129993727, LOC129993728, LOC129993729, LOC129993696, LOC129993697, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993650, LOC129993651, LOC129993633, LOC129993634, LOC129993635, LOC129993636, 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