| - GRCh37:
- Chr2:164821892-183059789
- GRCh38:
- Chr2:163965382-182195062
| KLHL23, KLHL41, LINC01116, LINC01117, LINC01124, LINC01305, LINC01934, LINC01960, LNPK, LOC100129455, LOC100130256, LOC100130691, LOC100506124, LOC101927055, LOC101929633, LOC102724058, LOC105373757, LOC105373759, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120677, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC110121216, LOC111413009, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC115945201, LOC120977013, LOC120977014, LOC120977015, LOC120977016, LOC121725107, LOC122847308, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC129935156, LOC129935157, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC132090686, LOC132090687, LOC401021, LRP2, MAP3K20, MAP3K20-AS1, METAP1D, METTL5, METTL8, MIR10B, MIR1246, MIR1258, MIR3128, MIR4437, MIR4444-1, MIR4774, MIR6512, MIR7704, MIR933, MTX2, MYO3B, MYO3B-AS1, NEUROD1, NFE2L2, NOSTRIN, NRAL, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PDK1-AS1, PHOSPHO2, PHOSPHO2-KLHL23, PJVK, PLEKHA3, PPIG, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SESTD1, SLC25A12, SLC38A11, SNORA70F, SNORD3K, SP3, SP5, SP9, SPC25, SSB, STK39, TLK1, TTC21B, TTC21B-AS1, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, UBR3, WIPF1, XIRP2, XIRP2-AS1, ZNF385B, ABCB11, AGPS, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BBS5, CCDC141, CDCA7, CERKL, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CHROMR, CIR1, COBLL1, CSRNP3, CWC22, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DYNC1I2, EPCART, ERICH2, ERICH2-DT, EVX2, FASTKD1, FKBP7, G6PC2, GAD1, GALNT3, GORASP2, GPR155, GPR155-DT, GRB14, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITGA6-AS1, ITPRID2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:171264198-187054621
- GRCh38:
- Chr2:170407688-186189894
| AGPS, ATF2, ATP5MC3, CCDC141, CDCA7, CERKL, CHN1, CHRNA1, CHROMR, CIR1, CWC22, CYBRD1, DCAF17, DLX1, DLX2, DLX2-DT, DNAJC10, DUSP19, DYNC1I2, EPCART, ERICH2, ERICH2-DT, EVX2, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GAD1, GORASP2, GPR155, GPR155-DT, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITGA6-AS1, ITPRID2, LINC01116, LINC01117, LINC01124, LINC01305, LINC01473, LINC01934, LINC01960, LNPK, LOC100129455, LOC100130256, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC115945201, LOC120977015, LOC120977016, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC129935156, LOC129935157, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC132090686, LOC132090687, LOC401021, MAP3K20, MAP3K20-AS1, METAP1D, METTL8, MIR10B, MIR1246, MIR1258, MIR3128, MIR4437, MIR4444-1, MIR548AE1, MIR6512, MIR7704, MIR933, MTX2, MYO3B, NCKAP1, NEUROD1, NFE2L2, NRAL, NUP35, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PDK1-AS1, PJVK, PLEKHA3, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCRN3, SESTD1, SLC25A12, SP3, SP5, SP9, TLK1, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZNF385B, ZNF804A | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:172285743-190044294
- GRCh38:
- Chr2:171429233-189179568
| AGPS, ATF2, ATP5MC3, CALCRL, CALCRL-AS1, CCDC141, CDCA7, CERKL, CHN1, CHRNA1, CHROMR, CIR1, COL3A1, COL5A2, CWC22, CYBRD1, DCAF17, DIRC1, DLX1, DLX2, DLX2-DT, DNAJC10, DUSP19, DYNC1I2, EPCART, EVX2, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GPR155, GPR155-DT, GULP1, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITGA6-AS1, ITGAV, ITPRID2, LINC01090, LINC01116, LINC01117, LINC01305, LINC01473, LINC01934, LINC01960, LNPK, LOC100129455, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC115945201, LOC120977015, LOC120977016, LOC121725108, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC129935156, LOC129935157, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC132090686, LOC132090687, LOC401021, MAP3K20, MAP3K20-AS1, METAP1D, METTL8, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MTX2, NCKAP1, NEUROD1, NFE2L2, NRAL, NUP35, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PDK1-AS1, PJVK, PLEKHA3, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCRN3, SESTD1, SLC25A12, SP3, SP9, TFPI, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZC3H15, ZNF385B, ZNF804A, ZSWIM2 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:175499230-189865690
- GRCh38:
- Chr2:174634502-189000964
| AGPS, ATF2, ATP5MC3, CALCRL, CALCRL-AS1, CCDC141, CERKL, CHN1, CHRNA1, CHROMR, COL3A1, CWC22, DIRC1, DNAJC10, DUSP19, EPCART, EVX2, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GULP1, HAGLR, HAGLROS, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01116, LINC01117, LINC01473, LINC01934, LNPK, LOC100129455, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120627, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC120977015, LOC120977016, LOC121725108, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC129935156, LOC129935157, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC401021, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MTX2, NCKAP1, NEUROD1, NFE2L2, NRAL, NUP35, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PJVK, PLEKHA3, PPP1R1C, PRKRA, RBM45, SCHLAP1, SESTD1, TFPI, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZC3H15, ZNF385B, ZNF804A, ZSWIM2 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:175763576-204806271
- GRCh38:
- Chr2:174898848-203941548
| ABI2, AGPS, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, ASDURF, ASNSD1, ATF2, ATP5MC3, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf88, CALCRL, CALCRL-AS1, CARF, CASP10, CASP8, CAVIN2, CAVIN2-AS1, CCDC141, CCDC150, CD28, CDK15, CERKL, CFLAR, CFLAR-AS1, CHN1, CHROMR, CLK1, COL3A1, COL5A2, COQ10B, CTLA4, CWC22, CYP20A1, DIRC1, DNAH7, DNAJC10, DUSP19, EPCART, EVX2, FAM117B, FAM171B, FKBP7, FLACC1, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD7, GLS, GTF3C3, GULP1, HAGLR, HAGLROS, HECW2, HECW2-AS1, HIBCH, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, ICA1L, ICOS, IFT70A, IFT70B, INPP1, ITGA4, ITGAV, ITPRID2, KCTD18, KIAA2012, KIAA2012-AS1, LINC01090, LINC01116, LINC01117, LINC01473, LINC01790, LINC01792, LINC01821, LINC01825, LINC01827, LINC01877, LINC01923, LINC01934, LNPK, LOC100129455, LOC100130452, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC105373835, LOC107126359, LOC108281145, LOC108281167, LOC108353821, LOC110120627, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC115945202, LOC115947632, LOC120977016, LOC120977017, LOC120977018, LOC120977019, LOC121725108, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC124906109, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC128772255, LOC128772256, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, LOC129388979, LOC129388980, LOC129388981, LOC129388982, LOC129388983, LOC129388984, LOC129388985, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC129935156, LOC129935157, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC129935237, LOC129935238, LOC129935239, LOC129935240, LOC129935241, LOC129935242, LOC129935243, LOC129935244, LOC129935245, LOC129935246, LOC129935247, LOC129935248, LOC129935249, LOC129935250, LOC129935251, LOC129935252, LOC129935253, LOC129935254, LOC129935255, LOC129935256, LOC129935257, LOC129935258, LOC129935259, LOC129935260, LOC129935261, LOC129935262, LOC129935263, LOC129935264, LOC129935265, LOC129935266, LOC129935267, LOC129935268, LOC129935269, LOC129935270, LOC129935271, LOC129935272, LOC129935273, LOC129935274, LOC129935275, LOC129935276, LOC129935277, LOC129935278, LOC129935279, LOC129935280, LOC129935281, LOC129935282, LOC129935283, LOC129935284, LOC129935285, LOC129935286, LOC129935287, LOC129935288, LOC129935289, LOC129935290, LOC129935291, LOC129935292, LOC129935293, LOC129935294, LOC129935295, LOC129935296, LOC129935297, LOC129935298, LOC129935299, LOC129935300, LOC129935301, LOC129935302, LOC129935303, LOC129935304, LOC129935305, LOC129935306, LOC129935307, LOC129935308, LOC129935309, LOC129935310, LOC129935311, LOC129935312, LOC129935313, LOC129935314, LOC129935315, LOC129935316, LOC129935317, LOC129935318, LOC129935319, LOC129935320, LOC129935321, LOC129935322, LOC129935323, LOC129935324, LOC129935325, LOC129935326, LOC129935327, LOC129935328, LOC129935329, LOC129935330, LOC129935331, LOC129935332, LOC129935333, LOC129935334, LOC129935335, LOC129935336, LOC129935337, LOC129935338, LOC129935339, LOC129935340, LOC129935341, LOC129935342, LOC129935343, LOC129935344, LOC129935345, LOC129935346, LOC129935347, LOC129935348, LOC129935349, LOC129935350, LOC129935351, LOC129935352, LOC129935353, LOC129935354, LOC129935355, LOC129935356, LOC129935357, LOC129935358, LOC129935359, LOC129935360, LOC129935361, LOC129935362, LOC129935363, LOC129935364, LOC129935365, LOC129935366, LOC129935367, LOC129935368, LOC129935369, LOC129935370, LOC129935371, LOC129935372, LOC129935373, LOC129935374, LOC129935375, LOC129935376, LOC129935377, LOC129935378, LOC129935379, LOC129935380, LOC129935381, LOC129935382, LOC129935383, LOC129935384, LOC129935385, LOC129935386, LOC129935387, LOC129935388, LOC129935389, LOC129935390, LOC129935391, LOC129935392, LOC129935393, LOC129935394, LOC129935395, LOC129935396, LOC129935397, LOC129935398, LOC129935399, LOC129935400, LOC129935401, LOC129935402, LOC129935403, LOC129935404, LOC129935405, LOC129935406, LOC129935407, LOC129935408, LOC129935409, LOC129935410, LOC129935411, LOC129935412, LOC129935413, LOC129935414, LOC129935415, LOC129935416, LOC129935417, LOC129935418, LOC129935419, LOC129935420, LOC129935421, LOC129935422, LOC129935423, LOC129935424, LOC129935425, LOC129935426, LOC129935427, LOC129935428, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435, LOC129935436, LOC129935437, LOC129935438, LOC129935439, LOC129935440, LOC129935441, LOC129935442, LOC129935443, LOC129935444, LOC129935445, LOC129935446, LOC129935447, LOC129935448, LOC129935449, LOC129935450, LOC129935451, LOC129935452, LOC129935453, LOC129935454, LOC129935455, LOC129935456, LOC129935457, LOC129935458, LOC129935459, LOC129935460, LOC129935461, LOC129935462, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC401021, LOC729254, MAIP1, MARS2, MFSD6, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MOB4, MPP4, MSTN, MTX2, MYO1B, MYO1B-AS1, NAB1, NABP1, NBEAL1, NCKAP1, NDUFB3, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, NIF3L1, NOP58, NRAL, NUP35, ORC2, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE11A-AS1, PDE1A, PGAP1, PJVK, PLCL1, PLEKHA3, PMS1, PPIL3, PPP1R1C, PRKRA, RAPH1, RBM45, RFTN2, SATB2, SATB2-AS1, SCHLAP1, SESTD1, SF3B1, SGO2, SLC39A10, SLC40A1, SNORA105B, SNORD11, SNORD11B, SNORD70, SNORD70B, SPATS2L, STAT1, STAT4, STAT4-AS1, STK17B, STRADB, SUMO1, TFPI, TMEFF2, TMEM237, TRAK2, TTN, TTN-AS1, TYW5, UBE2E3, UBE2E3-DT, WDR12, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:176951491-194066696
- GRCh38:
- Chr2:176086763-193201970
| AGPS, ANKAR, ASDURF, ASNSD1, C2orf88, CALCRL, CALCRL-AS1, CAVIN2, CAVIN2-AS1, CCDC141, CERKL, CHROMR, COL3A1, COL5A2, CWC22, DIRC1, DNAJC10, DUSP19, EPCART, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GLS, GULP1, HAGLR, HAGLROS, HIBCH, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, INPP1, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01116, LINC01117, LINC01473, LINC01934, LOC100129455, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC108281145, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC115945202, LOC115947632, LOC120977016, LOC120977017, LOC121725108, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC124906109, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, LOC129388979, LOC129935157, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC129935237, LOC129935238, LOC129935239, LOC129935240, LOC129935241, LOC129935242, LOC129935243, LOC129935244, LOC129935245, LOC129935246, LOC129935247, LOC129935248, LOC129935249, LOC129935250, LOC129935251, LOC129935252, LOC129935253, LOC129935254, LOC129935255, LOC129935256, LOC129935257, LOC129935258, LOC129935259, LOC129935260, LOC129935261, LOC129935262, LOC129935263, LOC129935264, LOC129935265, LOC129935266, LOC129935267, LOC129935268, LOC129935269, LOC129935270, LOC129935271, LOC129935272, LOC129935273, LOC129935274, LOC129935275, LOC129935276, LOC129935277, LOC129935278, LOC129935279, LOC129935280, LOC129935281, LOC129935282, LOC129935283, LOC129935284, LOC129935285, LOC129935286, LOC129935287, LOC129935288, LOC129935289, LOC129935290, LOC129935291, LOC129935292, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC401021, LOC729254, MFSD6, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MSTN, MTX2, MYO1B, MYO1B-AS1, NAB1, NABP1, NCKAP1, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, NRAL, NUP35, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE11A-AS1, PDE1A, PJVK, PLEKHA3, PMS1, PPP1R1C, PRKRA, RBM45, SCHLAP1, SESTD1, SLC40A1, STAT1, STAT4, STAT4-AS1, TFPI, TMEFF2, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2 | | See cases | Pathogenic (Jun 25, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:177169173-202904513
- GRCh38:
- Chr2:176304445-202039790
| LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC128772255, LOC128772256, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, LOC129388979, LOC129388980, LOC129388981, LOC129388982, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC129935237, LOC129935238, LOC129935239, LOC129935240, LOC129935241, LOC129935242, LOC129935243, LOC129935244, LOC129935245, LOC129935246, LOC129935247, LOC129935248, LOC129935249, LOC129935250, LOC129935251, LOC129935252, LOC129935253, LOC129935254, LOC129935255, LOC129935256, LOC129935257, LOC129935258, LOC129935259, LOC129935260, LOC129935261, LOC129935262, LOC129935263, LOC129935264, LOC129935265, LOC129935266, LOC129935267, LOC129935268, LOC129935269, LOC129935270, LOC129935271, LOC129935272, LOC129935273, LOC129935274, LOC129935275, LOC129935276, LOC129935277, LOC129935278, LOC129935279, LOC129935280, LOC129935281, LOC129935282, LOC129935283, LOC129935284, LOC129935285, LOC129935286, LOC129935287, LOC129935288, LOC129935289, LOC129935290, LOC129935291, LOC129935292, LOC129935293, LOC129935294, LOC129935295, LOC129935296, LOC129935297, LOC129935298, LOC129935299, LOC129935300, LOC129935301, LOC129935302, LOC129935303, LOC129935304, LOC129935305, LOC129935306, LOC129935307, LOC129935308, LOC129935309, LOC129935310, LOC129935311, LOC129935312, LOC129935313, LOC129935314, LOC129935315, LOC129935316, LOC129935317, LOC129935318, LOC129935319, LOC129935320, LOC129935321, LOC129935322, LOC129935323, LOC129935324, LOC129935325, LOC129935326, LOC129935327, LOC129935328, LOC129935329, LOC129935330, LOC129935331, LOC129935332, LOC129935333, LOC129935334, LOC129935335, LOC129935336, LOC129935337, LOC129935338, LOC129935339, LOC129935340, LOC129935341, LOC129935342, LOC129935343, LOC129935344, LOC129935345, LOC129935346, LOC129935347, LOC129935348, LOC129935349, LOC129935350, LOC129935351, LOC129935352, LOC129935353, LOC129935354, LOC129935355, LOC129935356, LOC129935357, LOC129935358, LOC129935359, LOC129935360, LOC129935361, LOC129935362, LOC129935363, LOC129935364, LOC129935365, LOC129935366, LOC129935367, LOC129935368, LOC129935369, LOC129935370, LOC129935371, LOC129935372, LOC129935373, LOC129935374, LOC129935375, LOC129935376, LOC129935377, LOC129935378, LOC129935379, LOC129935380, LOC129935381, LOC129935382, LOC129935383, LOC129935384, LOC129935385, LOC129935386, LOC129935387, LOC129935388, LOC129935389, LOC129935390, LOC129935391, LOC129935392, LOC129935393, LOC129935394, LOC129935395, LOC129935396, LOC129935397, LOC129935398, LOC129935399, LOC129935400, LOC129935401, LOC129935402, LOC129935403, LOC129935404, LOC129935405, LOC129935406, LOC129935407, LOC129935408, LOC129935409, LOC129935410, LOC129935411, LOC129935412, LOC129935413, LOC129935414, LOC129935415, LOC129935416, LOC129935417, LOC129935418, LOC129935419, LOC129935420, LOC129935421, LOC129935422, LOC129935423, LOC129935424, LOC129935425, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC729254, MAIP1, MARS2, MFSD6, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MOB4, MPP4, MSTN, MTX2, MYO1B, MYO1B-AS1, NAB1, NABP1, NCKAP1, NDUFB3, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, NIF3L1, NRAL, NUP35, ORC2, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE11A-AS1, PDE1A, PGAP1, PJVK, PLCL1, PLEKHA3, PMS1, PPIL3, PPP1R1C, PRKRA, RBM45, RFTN2, SATB2, SATB2-AS1, SCHLAP1, SESTD1, SF3B1, SGO2, SLC39A10, SLC40A1, SNORA105B, SPATS2L, STAT1, STAT4, STAT4-AS1, STK17B, STRADB, TFPI, TMEFF2, TMEM237, TRAK2, TTN, TTN-AS1, TYW5, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2, AGPS, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, ASDURF, ASNSD1, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf88, CALCRL, CALCRL-AS1, CASP10, CASP8, CAVIN2, CAVIN2-AS1, CCDC141, CCDC150, CDK15, CERKL, CFLAR, CFLAR-AS1, CHROMR, CLK1, COL3A1, COL5A2, COQ10B, CWC22, DIRC1, DNAH7, DNAJC10, DUSP19, EPCART, FAM171B, FKBP7, FLACC1, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD7, GLS, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HNRNPA3, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, IFT70A, IFT70B, INPP1, ITGA4, ITGAV, ITPRID2, KCTD18, LINC01090, LINC01116, LINC01117, LINC01473, LINC01790, LINC01792, LINC01821, LINC01825, LINC01827, LINC01877, LINC01923, LINC01934, LOC100130452, LOC100130691, LOC101927055, LOC105373757, LOC105373759, LOC105373780, LOC105373782, LOC105373835, LOC108281145, LOC108281167, LOC108353821, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC115945202, LOC115947632, LOC120977016, LOC120977017, LOC120977018, LOC120977019, LOC121725108, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC124906109, LOC126806413, LOC126806414, LOC126806415 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:178692457-195990053
- GRCh38:
- Chr2:177827730-195125329
| LOC129935258, LOC129935259, LOC129935260, LOC129935261, LOC129935262, LOC129935263, LOC129935264, LOC129935265, LOC129935266, LOC129935267, LOC129935268, LOC129935269, LOC129935270, LOC129935271, LOC129935272, LOC129935273, LOC129935274, LOC129935275, LOC129935276, LOC129935277, LOC129935278, LOC129935279, LOC129935280, LOC129935281, LOC129935282, LOC129935283, LOC129935284, LOC129935285, LOC129935286, LOC129935287, LOC129935288, LOC129935289, LOC129935290, LOC129935291, LOC129935292, LOC129935293, LOC129935294, LOC129935295, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC729254, MFSD6, MIR1245A, MIR1245B, MIR1258, MIR3129, MIR3606, MIR4437, MIR548AE1, MIR561, MSTN, MYO1B, MYO1B-AS1, NAB1, NABP1, NCKAP1, NEMP2, NEMP2-DT, NEUROD1, NUP35, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE1A, PJVK, PLEKHA3, PMS1, PPP1R1C, PRKRA, RBM45, SCHLAP1, SESTD1, SLC40A1, STAT1, STAT4, STAT4-AS1, TFPI, TMEFF2, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2, ANKAR, ASDURF, ASNSD1, C2orf88, CALCRL, CALCRL-AS1, CAVIN2, CAVIN2-AS1, CCDC141, CERKL, CHROMR, COL3A1, COL5A2, CWC22, DIRC1, DNAJC10, DUSP19, EPCART, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GLS, GULP1, HIBCH, INPP1, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01473, LINC01790, LINC01821, LINC01934, LOC101927055, LOC105373780, LOC105373782, LOC108281145, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC115945202, LOC115947632, LOC120977017, LOC121725108, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC124906109, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, LOC129388979, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC129935237, LOC129935238, LOC129935239, LOC129935240, LOC129935241, LOC129935242, LOC129935243, LOC129935244, LOC129935245, LOC129935246, LOC129935247, LOC129935248, LOC129935249, LOC129935250, LOC129935251, LOC129935252, LOC129935253, LOC129935254, LOC129935255, LOC129935256, LOC129935257 | | See cases | Pathogenic (Mar 24, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:178738797-199390216
- GRCh38:
- Chr2:177874070-198525492
| ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ASDURF, ASNSD1, BOLL, C2orf66, C2orf88, CALCRL, CALCRL-AS1, CAVIN2, CAVIN2-AS1, CCDC141, CCDC150, CERKL, CHROMR, COL3A1, COL5A2, COQ10B, CWC22, DIRC1, DNAH7, DNAJC10, DUSP19, EPCART, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GLS, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HSPD1, HSPE1, HSPE1-MOB4, INPP1, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01473, LINC01790, LINC01821, LINC01825, LINC01827, LINC01923, LINC01934, LOC100130452, LOC101927055, LOC105373780, LOC105373782, LOC108281145, LOC108353821, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC115945202, LOC115947632, LOC120977017, LOC121725108, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC124906109, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, LOC129388979, LOC129388980, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC129935237, LOC129935238, LOC129935239, LOC129935240, LOC129935241, LOC129935242, LOC129935243, LOC129935244, LOC129935245, LOC129935246, LOC129935247, LOC129935248, LOC129935249, LOC129935250, LOC129935251, LOC129935252, LOC129935253, LOC129935254, LOC129935255, LOC129935256, LOC129935257, LOC129935258, LOC129935259, LOC129935260, LOC129935261, LOC129935262, LOC129935263, LOC129935264, LOC129935265, LOC129935266, LOC129935267, LOC129935268, LOC129935269, LOC129935270, LOC129935271, LOC129935272, LOC129935273, LOC129935274, LOC129935275, LOC129935276, LOC129935277, LOC129935278, LOC129935279, LOC129935280, LOC129935281, LOC129935282, LOC129935283, LOC129935284, LOC129935285, LOC129935286, LOC129935287, LOC129935288, LOC129935289, LOC129935290, LOC129935291, LOC129935292, LOC129935293, LOC129935294, LOC129935295, LOC129935296, LOC129935297, LOC129935298, LOC129935299, LOC129935300, LOC129935301, LOC129935302, LOC129935303, LOC129935304, LOC129935305, LOC129935306, LOC129935307, LOC129935308, LOC129935309, LOC129935310, LOC129935311, LOC129935312, LOC129935313, LOC129935314, LOC129935315, LOC129935316, LOC129935317, LOC129935318, LOC129935319, LOC129935320, LOC129935321, LOC129935322, LOC129935323, LOC129935324, LOC129935325, LOC129935326, LOC129935327, LOC129935328, LOC129935329, LOC129935330, LOC129935331, LOC129935332, LOC129935333, LOC129935334, LOC129935335, LOC129935336, LOC129935337, LOC129935338, LOC129935339, LOC129935340, LOC129935341, LOC129935342, LOC129935343, LOC129935344, LOC129935345, LOC129935346, LOC129935347, LOC129935348, LOC129935349, LOC129935350, LOC129935351, LOC129935352, LOC129935353, LOC129935354, LOC129935355, LOC129935356, LOC129935357, LOC129935358, LOC129935359, LOC129935360, LOC129935361, LOC129935362, LOC129935363, LOC129935364, LOC129935365, LOC129935366, LOC129935367, LOC129935368, LOC129935369, LOC129935370, LOC129935371, LOC129935372, LOC129935373, LOC129935374, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC729254, MARS2, MFSD6, MIR1245A, MIR1245B, MIR1258, MIR3129, MIR3606, MIR4437, MIR548AE1, MIR561, MOB4, MSTN, MYO1B, MYO1B-AS1, NAB1, NABP1, NCKAP1, NEMP2, NEMP2-DT, NEUROD1, NUP35, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE1A, PGAP1, PJVK, PLCL1, PLEKHA3, PMS1, PPP1R1C, PRKRA, RBM45, RFTN2, SCHLAP1, SESTD1, SF3B1, SLC39A10, SLC40A1, SNORA105B, STAT1, STAT4, STAT4-AS1, STK17B, TFPI, TMEFF2, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179744878-186217556
- GRCh38:
- Chr2:178880151-185352829
| CCDC141, CERKL, CWC22, DNAJC10, DUSP19, EPCART, FRZB, ITGA4, ITPRID2, LINC01934, LOC105373780, LOC105373782, LOC108281145, LOC112806063, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, MIR1258, MIR4437, MIR548AE1, NCKAP1, NEUROD1, NUP35, PDE1A, PPP1R1C, SCHLAP1, SESTD1, UBE2E3, UBE2E3-DT, ZNF385B, ZNF804A | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:181378520-225167565
- GRCh38:
- Chr2:180513793-224302848
| LOC129935413, LOC129935414, LOC129935415, LOC129935416, LOC129935417, LOC129935418, LOC129935419, LOC129935420, LOC129935421, LOC129935422, LOC129935423, LOC129935424, LOC129935425, LOC129935426, LOC129935427, LOC129935428, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435, LOC129935436, LOC129935437, LOC129935438, LOC129935439, LOC129935440, LOC129935441, LOC129935442, LOC129935443, LOC129935444, LOC129935445, LOC129935446, LOC129935447, LOC129935448, LOC129935449, LOC129935450, LOC129935451, LOC129935452, LOC129935453, LOC129935454, LOC129935455, LOC129935456, LOC129935457, LOC129935458, LOC129935459, LOC129935460, LOC129935461, LOC129935462, LOC129935463, LOC129935464, LOC129935465, LOC129935466, LOC129935467, LOC129935468, LOC129935469, LOC129935470, LOC129935471, LOC129935472, LOC129935473, LOC129935474, LOC129935475, LOC129935476, LOC129935477, LOC129935478, LOC129935479, LOC129935480, LOC129935481, LOC129935482, LOC129935483, LOC129935484, LOC129935485, LOC129935486, LOC129935487, LOC129935488, LOC129935489, LOC129935490, LOC129935491, LOC129935492, LOC129935493, LOC129935494, LOC129935495, LOC129935496, LOC129935497, LOC129935498, LOC129935499, LOC129935500, LOC129935501, LOC129935502, LOC129935503, LOC129935504, LOC129935505, LOC129935506, LOC129935507, LOC129935508, LOC129935509, LOC129935510, LOC129935511, LOC129935512, LOC129935513, LOC129935514, LOC129935515, LOC129935516, LOC129935517, LOC129935518, LOC129935519, LOC129935520, LOC129935521, LOC129935522, LOC129935523, LOC129935524, LOC129935525, LOC129935526, LOC129935527, LOC129935528, LOC129935529, LOC129935530, LOC129935531, LOC129935532, LOC129935533, LOC129935534, LOC129935535, LOC129935536, LOC129935537, LOC129935538, LOC129935539, LOC129935540, LOC129935541, LOC129935542, LOC129935543, LOC129935544, LOC129935545, LOC129935546, LOC129935547, LOC129935548, LOC129935549, LOC129935550, LOC129935551, LOC129935552, LOC129935553, LOC129935554, LOC129935555, LOC129935556, LOC129935557, LOC129935558, LOC129935559, LOC129935560, LOC129935561, LOC129935562, LOC129935563, LOC129935564, LOC129935565, LOC129935566, LOC129935567, LOC129935568, LOC129935569, LOC129935570, LOC129935571, LOC129935572, LOC129935573, LOC129935574, LOC129935575, LOC129935576, LOC129935577, LOC129935578, LOC129935579, LOC129935580, LOC129935581, LOC129935582, LOC129935583, LOC129935584, LOC129935585, LOC129935586, LOC129935587, LOC129935588, LOC129935589, LOC129935590, LOC129935591, LOC129935592, LOC129935593, LOC129935594, LOC129935595, LOC129935596, LOC129935597, LOC129935598, LOC129935599, LOC129935600, LOC129935601, LOC129935602, LOC129935603, LOC129935604, LOC129935605, LOC129935606, LOC129935607, LOC129935608, LOC129935609, LOC129935610, LOC129935611, LOC129935612, LOC129935613, LOC129935614, LOC129935615, LOC129935616, LOC129935617, LOC129935618, LOC129935619, LOC129935620, LOC129935621, LOC129935622, LOC129935623, LOC129935624, LOC129935625, LOC129935626, LOC129935627, LOC129935628, LOC129935629, LOC129935630, LOC129935631, LOC129935632, LOC129935633, LOC129935634, LOC129935635, LOC129935636, LOC129935637, LOC129935638, LOC129935639, LOC129935640, LOC129935641, LOC129935642, LOC129935643, LOC129935644, LOC129935645, LOC129935646, LOC129935647, LOC129935648, LOC129935649, LOC129935650, LOC129935651, LOC129935652, LOC129935653, LOC129935654, LOC129935655, LOC129935656, LOC129935657, LOC129935658, LOC129935659, LOC129935660, LOC129935661, LOC129935662, LOC129935663, LOC129935664, LOC129935665, LOC129935666, LOC129935667, LOC129935668, LOC129935669, LOC129935670, LOC129935671, LOC129935672, LOC129935673, LOC129935674, LOC129935675, LOC129935676, LOC129935677, LOC129935678, LOC129935679, LOC129935680, LOC129935681, LOC129935682, LOC129935683, LOC129935684, LOC129935685, LOC129935686, LOC129935687, LOC129935688, LOC129935689, LOC129935690, LOC129935691, LOC129935692, LOC129935693, LOC129935694, LOC129935695, LOC129935696, LOC129935697, LOC129935698, LOC129935699, LOC129935700, LOC129935701, LOC129935702, LOC129935703, LOC129935704, LOC129935705, LOC129935706, LOC132088816, LOC132088817, LOC132088818, LOC132088819, LOC132088820, LOC132088821, LOC729254, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFSD6, MIR1245A, MIR1245B, MIR1302-4, MIR153-1, MIR2355, MIR26B, MIR3129, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3606, MIR375, MIR4268, MIR4437, MIR4438, MIR4775, MIR4776-1, MIR4776-2, MIR548AE1, MIR548F2, MIR561, MIR6513, MIR6809, MIR6810, MIR7845, MIR9500, MOB4, MOGAT1, MPP4, MREG, MRPL44, MSTN, MYL1, MYO1B, MYO1B-AS1, MYOSLID, MYOSLID-AS1, NAB1, NABP1, NBEAL1, NCKAP1, NDUFB3, NDUFS1, NEMP2, NEMP2-DT, NEUROD1, NHEJ1, NIF3L1, NOP58, NRP2, NUP35, OBSL1, ORC2, ORMDL1, OSGEPL1, OSGEPL1-AS1, PARD3B, PAX3, PCGEM1, PDE1A, PECR, PGAP1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R1C, PRKAG3, PTH2R, PTPRN, RAPH1, RESP18, RETREG2, RFTN2, RNF25, RPE, RPL37A, RPL37A-DT, RUFY4, SATB2, SATB2-AS1, SCG2, SCHLAP1, SERPINE2, SF3B1, SGO2, SGPP2, SLC11A1, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNHG31, SNORA105B, SNORA115, SNORA41, SNORA70I, SNORD11, SNORD11B, SNORD51, SNORD70, SNORD70B, SPAG16, SPAG16-DT, SPATS2L, SPEG, SPEGNB, STAT1, STAT4, STAT4-AS1, STK11IP, STK16, STK17B, STK36, STRADB, SUMO1, TESHL, TFPI, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNS1, TNS1-AS1, TRAK2, TRY-ATA1-1, TTLL4, TUBA4A, TUBA4B, TYW5, UBE2E3, UBE2E3-DT, UNC80, USP37, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZC3H15, ZDBF2, ZFAND2B, ZNF142, ZNF804A, ZSWIM2, ICOS, IDH1, IDH1-AS1, IGFBP-AS1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INO80D-AS1, INPP1, ITGA4, ITGAV, ITPRID2, KANSL1L, KANSL1L-AS1, KCNE4, KCTD18, KIAA2012, KIAA2012-AS1, KLF7, LANCL1, LANCL1-AS1, LINC00607, LINC00608, LINC01090, LINC01280, LINC01473, LINC01494, LINC01614, LINC01790, LINC01792, LINC01802, LINC01803, LINC01821, LINC01825, LINC01827, LINC01857, LINC01877, LINC01878, LINC01923, LINC01934, LINC01953, LINC01963, LINC02832, LINC02862, LOC100129175, LOC100130452, LOC100507443, LOC101927960, LOC102724849, LOC102724861, LOC105373780, LOC105373782, LOC105373835, LOC105373876, LOC105373907, LOC107980445, LOC108178994, LOC108254675, LOC108281145, LOC108281167, LOC108353821, LOC110121128, LOC110121148, LOC110121169, LOC110121204, LOC110121267, LOC111413021, LOC111501760, LOC111828511, LOC111828512, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC112806074, LOC112806075, LOC112806076, LOC112806077, LOC112806078, LOC112806079, LOC112806080, LOC112806081, LOC112840900, LOC112840901, LOC112840902, LOC112840903, LOC114004367, LOC114004368, LOC115945202, LOC115947632, LOC115947633, LOC120977017, LOC120977018, LOC120977019, LOC120977020, LOC120977021, LOC120977022, LOC120977023, LOC120977024, LOC120977025, LOC121009626, LOC121009627, LOC121725108, LOC121725109, LOC121725110, LOC121725111, LOC121725112, LOC121725113, LOC121725114, LOC121725115, LOC121725116, LOC121725117, LOC122319436, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC122861280, LOC122861281, LOC122861282, LOC122861284, LOC122861285, LOC122861286, LOC122861287, LOC122861288, LOC122861289, LOC122861290, LOC122861291, LOC122861292, LOC122861293, LOC122861294, LOC122861295, LOC122861296, LOC122861297, LOC122861298, LOC122861299, LOC122861300, LOC122861301, LOC124906109, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC126806474, LOC126806475, LOC126806476, LOC126806477, LOC126806478, LOC126806479, LOC126806480, LOC126806481, LOC126806482, LOC126806483, LOC126806484, LOC126806485, LOC126806486, LOC126806487, LOC126806488, LOC126806489, LOC126806490, LOC126806491, LOC126806492, LOC126806493, LOC126806494, LOC126806495, LOC126806496, LOC126806497, LOC126806498, LOC126806499, LOC126806500, LOC126806501, LOC126806502, LOC126806503, LOC126806504, LOC126806505, LOC126806506, LOC126806507, LOC126806508, LOC126806509, LOC126806510, LOC126806511, LOC126806512, LOC126806513, LOC126806514, LOC126806515, LOC126806516, LOC126806517, LOC126806518, LOC126806519, LOC126806520, LOC126806521, LOC126806522, LOC126806523, LOC126806524, LOC126806525, LOC126806526, LOC126806527, LOC126806528, LOC126806529, LOC126806530, LOC126806531, LOC126806532, LOC126806533, LOC126806534, LOC128772255, LOC128772256, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129388971, LOC129388972, LOC129388973, LOC129388974, LOC129388975, LOC129388976, LOC129388977, LOC129388978, LOC129388979, LOC129388980, LOC129388981, LOC129388982, LOC129388983, LOC129388984, LOC129388985, LOC129388986, LOC129388987, LOC129388988, LOC129388989, LOC129388990, LOC129388991, LOC129388992, LOC129388993, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, LOC129935236, LOC129935237, LOC129935238, LOC129935239, LOC129935240, LOC129935241, LOC129935242, LOC129935243, LOC129935244, LOC129935245, LOC129935246, LOC129935247, LOC129935248, LOC129935249, LOC129935250, LOC129935251, LOC129935252, LOC129935253, LOC129935254, LOC129935255, LOC129935256, LOC129935257, LOC129935258, LOC129935259, LOC129935260, LOC129935261, LOC129935262, LOC129935263, LOC129935264, LOC129935265, LOC129935266, LOC129935267, LOC129935268, LOC129935269, LOC129935270, LOC129935271, LOC129935272, LOC129935273, LOC129935274, LOC129935275, LOC129935276, LOC129935277, LOC129935278, LOC129935279, LOC129935280, LOC129935281, LOC129935282, LOC129935283, LOC129935284, LOC129935285, LOC129935286, LOC129935287, LOC129935288, LOC129935289, LOC129935290, LOC129935291, LOC129935292, LOC129935293, LOC129935294, LOC129935295, LOC129935296, LOC129935297, LOC129935298, LOC129935299, LOC129935300, LOC129935301, LOC129935302, LOC129935303, LOC129935304, LOC129935305, LOC129935306, LOC129935307, LOC129935308, LOC129935309, LOC129935310, LOC129935311, LOC129935312, LOC129935313, LOC129935314, LOC129935315, LOC129935316, LOC129935317, LOC129935318, LOC129935319, LOC129935320, LOC129935321, LOC129935322, LOC129935323, LOC129935324, LOC129935325, LOC129935326, LOC129935327, LOC129935328, LOC129935329, LOC129935330, LOC129935331, LOC129935332, LOC129935333, LOC129935334, LOC129935335, LOC129935336, LOC129935337, LOC129935338, LOC129935339, LOC129935340, LOC129935341, LOC129935342, LOC129935343, LOC129935344, LOC129935345, LOC129935346, LOC129935347, LOC129935348, LOC129935349, LOC129935350, LOC129935351, LOC129935352, LOC129935353, LOC129935354, LOC129935355, LOC129935356, LOC129935357, LOC129935358, LOC129935359, LOC129935360, LOC129935361, LOC129935362, LOC129935363, LOC129935364, LOC129935365, LOC129935366, LOC129935367, LOC129935368, LOC129935369, LOC129935370, LOC129935371, LOC129935372, LOC129935373, LOC129935374, LOC129935375, LOC129935376, LOC129935377, LOC129935378, LOC129935379, LOC129935380, LOC129935381, LOC129935382, LOC129935383, LOC129935384, LOC129935385, LOC129935386, LOC129935387, LOC129935388, LOC129935389, LOC129935390, LOC129935391, LOC129935392, LOC129935393, LOC129935394, LOC129935395, LOC129935396, LOC129935397, LOC129935398, LOC129935399, LOC129935400, LOC129935401, LOC129935402, LOC129935403, LOC129935404, LOC129935405, LOC129935406, LOC129935407, LOC129935408, LOC129935409, LOC129935410, LOC129935411, LOC129935412, AAMP, ABCA12, ABCB6, ABI2, ACADL, ACSL3, ACSL3-AS1, ADAM23, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ANKZF1, AOX1, AP1S3, ARPC2, ASDURF, ASIC4, ASIC4-AS1, ASNSD1, ATG9A, ATIC, BARD1, BCS1L, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf80, C2orf88, CALCRL, CALCRL-AS1, CARF, CASP10, CASP8, CATIP, CATIP-AS1, CATIP-AS2, CAVIN2, CAVIN2-AS1, CCDC140, CCDC150, CCNYL1, CD28, CDK15, CDK5R2, CERKL, CFAP65, CFLAR, CFLAR-AS1, CHPF, CLK1, CMKLR2, CMKLR2-AS, CNOT9, CNPPD1, COL3A1, COL5A2, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CT75, CTDSP1, CTLA4, CXCR1, CXCR2, CYP20A1, CYP27A1, DES, DES-LCR, DIRC1, DIRC3, DIRC3-AS1, DNAH7, DNAJB2, DNAJC10, DNPEP, DNPEP-AS1, DUSP19, DYTN, EEF1B2, EPHA4, ERBB4, FAM117B, FAM171B, FAM237A, FARSB, FASTKD2, FEV, FLACC1, FN1, FN1-DT, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD5, FZD7, GLB1L, GLS, GMPPA, GPBAR1, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, ICA1L | | See cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:181807629-188237115
- GRCh38:
- Chr2:180942902-187372388
| CALCRL, CALCRL-AS1, CERKL, DNAJC10, DUSP19, FAM171B, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, ITGA4, ITGAV, ITPRID2, LINC01473, LINC01934, LOC105373780, LOC105373782, LOC108281145, LOC112806063, LOC121725108, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129388965, LOC129388966, LOC129388967, LOC129388968, LOC129388969, LOC129388970, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, LOC129935220, LOC129935221, LOC129935222, LOC129935223, LOC129935224, LOC129935225, LOC129935226, LOC129935227, LOC129935228, LOC129935229, LOC129935230, LOC129935231, LOC129935232, LOC129935233, LOC129935234, LOC129935235, MIR4437, MIR548AE1, NCKAP1, NEUROD1, NUP35, PDE1A, PPP1R1C, UBE2E3, UBE2E3-DT, ZC3H15, ZNF804A, ZSWIM2 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:182355799-183423736
- GRCh38:
- Chr2:181491072-182559009
| CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, LOC122861261, LOC122861262, LOC126806440, LOC126806441, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC129935219, NEUROD1, PDE1A, PPP1R1C | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182379157-182765581
- GRCh38:
- Chr2:181514430-181900854
| CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, LOC122861261, LOC122861262, LOC126806440, LOC129388961, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, NEUROD1 | | Retinitis pigmentosa | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:182540916
- GRCh38:
- Chr2:181676189
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182540922
- GRCh38:
- Chr2:181676195
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182540934
- GRCh38:
- Chr2:181676207
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182540962
- GRCh38:
- Chr2:181676235
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541031
- GRCh38:
- Chr2:181676304
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541178
- GRCh38:
- Chr2:181676451
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541392
- GRCh38:
- Chr2:181676665
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541421
- GRCh38:
- Chr2:181676694
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541484
- GRCh38:
- Chr2:181676757
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541610
- GRCh38:
- Chr2:181676883
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541658
- GRCh38:
- Chr2:181676931
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541698
- GRCh38:
- Chr2:181676971
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541722
- GRCh38:
- Chr2:181676995
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541744
- GRCh38:
- Chr2:181677017
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:182541798
- GRCh38:
- Chr2:181677071
| NEUROD1 | | Maturity-onset diabetes of the young type 6 | Likely benign
|