| - GRCh37:
- Chr10:94940958-103116536
- GRCh38:
- Chr10:93181201-101356779
| LOC130004555, LOC130004556, LOC644215, LOXL4, LZTS2, MARVELD1, MIR1287, MIR3085, MIR3157, MIR4685, MIR607, MIR608, MIR6507, MMS19, MORN4, MRPL43, MYOF, NDUFB8, NKX2-3, NOC3L, OLMALINC, OPALIN, PAX2, PDE6C, PDLIM1, PDZD7, PGAM1, PI4K2A, PIK3AP1, PKD2L1, PLCE1, PLCE1-AS1, PLCE1-AS2, PYROXD2, R3HCC1L, RBP4, RRP12, SCD, SEC31B, SEMA4G, SFRP5, SFXN3, SLC25A28, SLC25A28-DT, SLC35G1, SLF2, SLIT1, SLIT1-AS1, SNORA12, SORBS1, TBC1D12, TCTN3, TLL2, TLX1, TLX1NB, TM9SF3, TWNK, UBTD1, WNT8B, ZDHHC16, ZFYVE27, ZNF518A, ABCC2, ACSM6, ALDH18A1, ANKRD2, ARHGAP19, ARHGAP19-SLIT1, AVPI1, BLNK, BLOC1S2, BTRC, C10orf12, C10orf131, C10orf62, CC2D2B, CCNJ, CEP55, CHUK, CHUK-DT, CNNM1, COX15, CPN1, CRTAC1, CUTC, CWF19L1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, DNMBP, DNMBP-AS1, DNTT, ENTPD1, ENTPD1-AS1, ENTPD7, ERLIN1, EXOSC1, FFAR4, FRA10A, FRA10AC1, FRAT1, FRAT2, GOLGA7B, GOLGA7B-DT, GOT1, GOT1-DT, HELLS, HIF1AN, HOGA1, HPS1, HPS1-AS1, HPSE2, KAZALD1, LBX1, LBX1-AS1, LCOR, LGI1, LINC01475, LINC01514, LINC02681, LOC102723665, LOC105378448, LOC108281165, LOC110120845, LOC110121311, LOC110121505, LOC110599569, LOC110599570, LOC110599571, LOC110599572, LOC111832675, LOC111875816, LOC111875817, LOC111982881, LOC111982882, LOC111982883, LOC111982884, LOC111982885, LOC111982886, LOC111982887, LOC111982888, LOC113939913, LOC116216118, LOC116216119, LOC121366073, LOC121366074, LOC121366075, LOC121366076, LOC121815958, LOC121815959, LOC121815960, LOC121815961, LOC124416870, LOC124416871, LOC124416872, LOC124416873, LOC124416874, LOC124416875, LOC124416876, LOC124416877, LOC124416878, LOC124416879, LOC124416880, LOC124416884, LOC124416888, LOC124416890, LOC126860999, LOC126861000, LOC126861001, LOC126861002, LOC126861003, LOC126861004, LOC126861005, LOC126861006, LOC126861007, LOC126861008, LOC126861009, LOC126861010, LOC126861011, LOC126861012, LOC126861013, LOC126861014, LOC126861015, LOC126861016, LOC126861017, LOC126861018, LOC129390215, LOC129390216, LOC129390217, LOC129390218, LOC129390219, LOC129390220, LOC129390221, LOC129390222, LOC129390223, LOC129390224, LOC130004375, LOC130004376, LOC130004377, LOC130004378, LOC130004379, LOC130004380, LOC130004381, LOC130004382, LOC130004383, LOC130004384, LOC130004385, LOC130004386, LOC130004387, LOC130004388, LOC130004389, LOC130004390, LOC130004391, LOC130004392, LOC130004393, LOC130004394, LOC130004395, LOC130004396, LOC130004397, LOC130004398, LOC130004399, LOC130004400, LOC130004401, LOC130004402, LOC130004403, LOC130004404, LOC130004405, LOC130004406, LOC130004407, LOC130004408, LOC130004409, LOC130004410, LOC130004411, LOC130004412, LOC130004413, LOC130004414, LOC130004415, LOC130004416, LOC130004417, LOC130004418, LOC130004419, LOC130004420, LOC130004421, LOC130004422, LOC130004423, LOC130004424, LOC130004425, LOC130004426, LOC130004427, LOC130004428, LOC130004429, LOC130004430, LOC130004431, LOC130004432, LOC130004433, LOC130004434, LOC130004435, LOC130004436, LOC130004437, LOC130004438, LOC130004439, LOC130004440, LOC130004441, LOC130004442, LOC130004443, LOC130004444, LOC130004445, LOC130004446, LOC130004447, LOC130004448, LOC130004449, LOC130004450, LOC130004451, LOC130004452, LOC130004453, LOC130004454, LOC130004455, LOC130004456, LOC130004457, LOC130004458, LOC130004459, LOC130004460, LOC130004461, LOC130004462, LOC130004463, LOC130004464, LOC130004465, LOC130004466, LOC130004467, LOC130004468, LOC130004469, LOC130004470, LOC130004471, LOC130004472, LOC130004473, LOC130004474, LOC130004475, LOC130004476, LOC130004477, LOC130004478, LOC130004479, LOC130004480, LOC130004481, LOC130004482, LOC130004483, LOC130004484, LOC130004485, LOC130004486, LOC130004487, LOC130004488, LOC130004489, LOC130004490, LOC130004491, LOC130004492, LOC130004493, LOC130004494, LOC130004495, LOC130004496, LOC130004497, LOC130004498, LOC130004499, LOC130004500, LOC130004501, LOC130004502, LOC130004503, LOC130004504, LOC130004505, LOC130004506, LOC130004507, LOC130004508, LOC130004509, LOC130004510, LOC130004511, LOC130004512, LOC130004513, LOC130004514, LOC130004515, LOC130004516, LOC130004517, LOC130004518, LOC130004519, LOC130004520, LOC130004521, LOC130004522, LOC130004523, LOC130004524, LOC130004525, LOC130004526, LOC130004527, LOC130004528, LOC130004529, LOC130004530, LOC130004531, LOC130004532, LOC130004533, LOC130004534, LOC130004535, LOC130004536, LOC130004537, LOC130004538, LOC130004539, LOC130004540, LOC130004541, LOC130004542, LOC130004543, LOC130004544, LOC130004545, LOC130004546, LOC130004547, LOC130004548, LOC130004549, LOC130004550, LOC130004551, LOC130004552, LOC130004553, LOC130004554 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:96872364-118383651
- GRCh38:
- Chr10:95112607-116776637
| ABCC2, ABLIM1, ACSL5, ACSM6, ACTR1A, ADD3, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ALDH18A1, ANKRD2, ARHGAP19, ARHGAP19-SLIT1, ARL3, ARMH3, AS3MT, ATP5MK, ATRNL1, AVPI1, BBIP1, BLNK, BLOC1S2, BORCS7, BORCS7-ASMT, BTRC, C10orf12, C10orf131, C10orf62, C10orf95, C10orf95-AS1, CALHM1, CALHM2, CALHM3, CASP7, CC2D2B, CCDC172, CCDC186, CCNJ, CFAP43, CFAP58, CFAP58-DT, CHUK, CHUK-DT, CNNM1, CNNM2, COL17A1, COX15, CPN1, CRTAC1, CUEDC2, CUTC, CWF19L1, CYP17A1, CYP17A1-AS1, DCLRE1A, DNMBP, DNMBP-AS1, DNTT, DPCD, DUSP5, DUSP5-DT, ELOVL3, ENTPD1, ENTPD1-AS1, ENTPD7, ERLIN1, EXOSC1, FBXL15, FBXW4, FGF8, FHIP2A, FRA10B, FRAT1, FRAT2, GBF1, GFRA1, GOLGA7B, GOLGA7B-DT, GOT1, GOT1-DT, GPAM, GSTO1, GSTO2, HABP2, HEAT2, HIF1AN, HOGA1, HPS1, HPS1-AS1, HPS6, HPSE2, HSPA12A, HSPA12A-AS1, INA, ITPRIP, ITPRIP-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, LBX1, LBX1-AS1, LCOR, LDB1, LINC01435, LINC01475, LINC01514, LINC02620, LINC02624, LINC02626, LINC02627, LINC02661, LINC02681, LINC03046, LOC101927692, LOC102723665, LOC103344931, LOC105378448, LOC105378479, LOC105378482, LOC107984265, LOC108281165, LOC109136576, LOC110120845, LOC110120850, LOC110120886, LOC110121311, LOC110121472, LOC110121505, LOC110408762, LOC111501773, LOC111832675, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111982883, LOC111982884, LOC111982885, LOC111982886, LOC111982887, LOC111982888, LOC113939913, LOC113939914, LOC116216118, LOC116216119, LOC116216120, LOC116216121, LOC121366075, LOC121366076, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121815958, LOC121815959, LOC121815960, LOC121815961, LOC121815962, LOC121815963, LOC121815964, LOC121815965, LOC121815966, LOC121815967, LOC121815968, LOC121815969, LOC124416872, LOC124416873, LOC124416874, LOC124416875, LOC124416876, LOC124416877, LOC124416878, LOC124416879, LOC124416880, LOC124416884, LOC124416888, LOC124416890, LOC124416891, LOC124416892, LOC124416893, LOC124416894, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC126861005, LOC126861006, LOC126861007, LOC126861008, LOC126861009, LOC126861010, LOC126861011, LOC126861012, LOC126861013, LOC126861014, LOC126861015, LOC126861016, LOC126861017, LOC126861018, LOC126861019, LOC126861020, LOC126861021, LOC126861022, LOC126861023, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC128772341, LOC129390217, LOC129390218, LOC129390219, LOC129390220, LOC129390221, LOC129390222, LOC129390223, LOC129390224, LOC129390225, LOC129390226, LOC129390227, LOC129390228, LOC129390229, LOC129390230, LOC129390231, LOC129390232, LOC130004389, LOC130004390, LOC130004391, LOC130004392, LOC130004393, LOC130004394, LOC130004395, LOC130004396, LOC130004397, LOC130004398, LOC130004399, LOC130004400, LOC130004401, LOC130004402, LOC130004403, LOC130004404, LOC130004405, LOC130004406, LOC130004407, LOC130004408, LOC130004409, LOC130004410, LOC130004411, LOC130004412, LOC130004413, LOC130004414, LOC130004415, LOC130004416, LOC130004417, LOC130004418, LOC130004419, LOC130004420, LOC130004421, LOC130004422, LOC130004423, LOC130004424, LOC130004425, LOC130004426, LOC130004427, LOC130004428, LOC130004429, LOC130004430, LOC130004431, LOC130004432, LOC130004433, LOC130004434, LOC130004435, LOC130004436, LOC130004437, LOC130004438, LOC130004439, LOC130004440, LOC130004441, LOC130004442, LOC130004443, LOC130004444, LOC130004445, LOC130004446, LOC130004447, LOC130004448, LOC130004449, LOC130004450, LOC130004451, LOC130004452, LOC130004453, LOC130004454, LOC130004455, LOC130004456, LOC130004457, LOC130004458, LOC130004459, LOC130004460, LOC130004461, LOC130004462, LOC130004463, LOC130004464, LOC130004465, LOC130004466, LOC130004467, LOC130004468, LOC130004469, LOC130004470, LOC130004471, LOC130004472, LOC130004473, LOC130004474, LOC130004475, LOC130004476, LOC130004477, LOC130004478, LOC130004479, LOC130004480, LOC130004481, LOC130004482, LOC130004483, LOC130004484, LOC130004485, LOC130004486, LOC130004487, LOC130004488, LOC130004489, LOC130004490, LOC130004491, LOC130004492, LOC130004493, LOC130004494, LOC130004495, LOC130004496, LOC130004497, LOC130004498, LOC130004499, LOC130004500, LOC130004501, LOC130004502, LOC130004503, LOC130004504, LOC130004505, LOC130004506, LOC130004507, LOC130004508, LOC130004509, LOC130004510, LOC130004511, LOC130004512, LOC130004513, LOC130004514, LOC130004515, LOC130004516, LOC130004517, LOC130004518, LOC130004519, LOC130004520, LOC130004521, LOC130004522, LOC130004523, LOC130004524, LOC130004525, LOC130004526, LOC130004527, LOC130004528, LOC130004529, LOC130004530, LOC130004531, LOC130004532, LOC130004533, LOC130004534, LOC130004535, LOC130004536, LOC130004537, LOC130004538, LOC130004539, LOC130004540, LOC130004541, LOC130004542, LOC130004543, LOC130004544, LOC130004545, LOC130004546, LOC130004547, LOC130004548, LOC130004549, LOC130004550, LOC130004551, LOC130004552, LOC130004553, LOC130004554, LOC130004555, LOC130004556, LOC130004557, LOC130004558, LOC130004559, LOC130004560, LOC130004561, LOC130004562, LOC130004563, LOC130004564, LOC130004565, LOC130004566, LOC130004567, LOC130004568, LOC130004569, LOC130004570, LOC130004571, LOC130004572, LOC130004573, LOC130004574, LOC130004575, LOC130004576, LOC130004577, LOC130004578, LOC130004579, LOC130004580, LOC130004581, LOC130004582, LOC130004583, LOC130004584, LOC130004585, LOC130004586, LOC130004587, LOC130004588, LOC130004589, LOC130004590, LOC130004591, LOC130004592, LOC130004593, LOC130004594, LOC130004595, LOC130004596, LOC130004597, LOC130004598, LOC130004599, LOC130004600, LOC130004601, LOC130004602, LOC130004603, LOC130004604, LOC130004605, LOC130004606, LOC130004607, LOC130004608, LOC130004609, LOC130004610, LOC130004611, LOC130004612, LOC130004613, LOC130004614, LOC130004615, LOC130004616, LOC130004617, LOC130004618, LOC130004619, LOC130004620, LOC130004621, LOC130004622, LOC130004623, LOC130004624, LOC130004625, LOC130004626, LOC130004627, LOC130004628, LOC130004629, LOC130004630, LOC130004631, LOC130004632, LOC130004633, LOC130004634, LOC130004635, LOC130004636, LOC130004637, LOC130004638, LOC130004639, LOC130004640, LOC130004641, LOC130004642, LOC130004643, LOC130004644, LOC130004645, LOC130004646, LOC130004647, LOC130004648, LOC130004649, LOC130004650, LOC130004651, LOC130004652, LOC130004653, LOC130004654, LOC130004655, LOC130004656, LOC130004657, LOC130004658, LOC130004659, LOC130004660, LOC130004661, LOC130004662, LOC130004663, LOC130004664, LOC130004665, LOC130004666, LOC130004667, LOC130004668, LOC130004669, LOC130004670, LOC130004671, LOC130004672, LOC130004673, LOC130004674, LOC130004675, LOC130004676, LOC130004677, LOC130004678, LOC130004679, LOC130004680, LOC130004681, LOC130004682, LOC130004683, LOC130004684, LOC130004685, LOC130004686, LOC130004687, LOC130004688, LOC130004689, LOC130004690, LOC130004691, LOC130004692, LOC130004693, LOC130004694, LOC130004695, LOC130004696, LOC130004697, LOC130004698, LOC130004699, LOC130004700, LOC130004701, LOC130004702, LOC130004703, LOC130004704, LOC130004705, LOC130004706, LOC130004707, LOC130004708, LOC130004709, LOC130004710, LOC130004711, LOC130004712, LOC130004713, LOC130004714, LOC130004715, LOC130004716, LOC130004717, LOC130004718, LOC130004719, LOC130004720, LOC130004721, LOC130004722, LOC130004723, LOC130004724, LOC130004725, LOC130004726, LOC130004727, LOC130004728, LOC130004729, LOC130004730, LOC130004731, LOC130004732, LOC130004733, LOC130004734, LOC130004735, LOC130004736, LOC130004737, LOC130004738, LOC130004739, LOC130004740, LOC130004741, LOC130004742, LOC130004743, LOC130004744, LOC130004745, LOC130004746, LOC130004747, LOC130004748, LOC130004749, LOC130004750, LOC130004751, LOC130004752, LOC130004753, LOC130004754, LOC130004755, LOC130004756, LOC130004757, LOC130004758, LOC130004759, LOC130004760, LOC130004761, LOC130004762, LOC130004763, LOC130004764, LOC130004765, LOC130004766, LOC130004767, LOC130004768, LOC130004769, LOC130004770, LOC130004771, LOC130004772, LOC130004773, LOC130004774, LOC130004775, LOC130004776, LOC130004777, LOC130004778, LOC130004779, LOC130004780, LOC130004781, LOC130004782, LOC130004783, LOC130004784, LOC130004785, LOC130004786, LOC130004787, LOC130004788, LOC130004789, LOC130004790, LOC130004791, LOC130004792, LOC130004793, LOC130004794, LOC130004795, LOC130004796, LOC130004797, LOC130004798, LOC130004799, LOC130004800, LOC130004801, LOC130004802, LOC130004803, LOC130004804, LOC130004805, LOC130004806, LOC132089879, LOC132089880, LOC132089881, LOC132089882, LOC132089883, LOC132089884, LOC132090825, LOC644215, LOXL4, LZTS2, MARVELD1, MFSD13A, MIR1287, MIR1307, MIR146B, MIR2110, MIR3085, MIR3157, MIR3158-1, MIR3158-2, MIR4295, MIR4482, MIR4483, MIR4680, MIR4685, MIR548E, MIR607, MIR608, MIR609, MIR6507, MIR6715A, MIR6715B, MIR936, MMS19, MORN4, MRPL43, MXI1, NDUFB8, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX2-3, NOLC1, NPM3, NRAP, NT5C2, OGA, OLMALINC, OPALIN, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDLIM1, PDZD7, PGAM1, PI4K2A, PIK3AP1, PITX3, PKD2L1, PLEKHS1, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPRC1, PSD, PYROXD2, R3HCC1L, RBM20, RPEL1, RRP12, SCD, SEC31B, SEMA4G, SFR1, SFRP5, SFXN2, SFXN3, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SLC25A28, SLC25A28-DT, SLF2, SLIT1, SLIT1-AS1, SLK, SMC3, SMNDC1, SNORA12, SNORA87, SNORD158, SORBS1, SORCS1, SORCS3, SORCS3-AS1, SPMIP5, STN1, SUFU, TAF5, TCF7L2, TCTN3, TDRD1, TECTB, TLL2, TLX1, TLX1NB, TM9SF3, TRIM8, TRIM8-DT, TRUB1, TWNK, UBTD1, VTI1A, VWA2, WBP1L, WNT8B, XPNPEP1, ZDHHC16, ZDHHC6, ZFYVE27, ZNF518A | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:101953972-134246301
- GRCh38:
- Chr10:100194215-132432797
| LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC128598885, LOC128772341, LOC129390223, LOC129390224, LOC129390225, LOC129390226, LOC129390227, LOC129390228, LOC129390229, LOC129390230, LOC129390231, LOC129390232, LOC129390233, LOC129390234, LOC129390235, LOC129390236, LOC129390237, LOC129390238, LOC129390239, LOC129390240, LOC130004523, LOC130004524, LOC130004525, LOC130004526, LOC130004527, LOC130004528, LOC130004529, LOC130004530, LOC130004531, LOC130004532, LOC130004533, LOC130004534, LOC130004535, LOC130004536, LOC130004537, LOC130004538, LOC130004539, LOC130004540, LOC130004541, LOC130004542, LOC130004543, LOC130004544, LOC130004545, LOC130004546, LOC130004547, LOC130004548, LOC130004549, LOC130004550, LOC130004551, LOC130004552, LOC130004553, LOC130004554, LOC130004555, LOC130004556, LOC130004557, LOC130004558, LOC130004559, LOC130004560, LOC130004561, LOC130004562, LOC130004563, LOC130004564, LOC130004565, LOC130004566, LOC130004567, LOC130004568, LOC130004569, LOC130004570, LOC130004571, LOC130004572, LOC130004573, LOC130004574, LOC130004575, LOC130004576, LOC130004577, LOC130004578, LOC130004579, LOC130004580, LOC130004581, LOC130004582, LOC130004583, LOC130004584, LOC130004585, LOC130004586, LOC130004587, LOC130004588, LOC130004589, LOC130004590, LOC130004591, LOC130004592, LOC130004593, LOC130004594, LOC130004595, LOC130004596, LOC130004597, LOC130004598, LOC130004599, LOC130004600, LOC130004601, LOC130004602, LOC130004603, LOC130004604, LOC130004605, LOC130004606, LOC130004607, LOC130004608, LOC130004609, LOC130004610, LOC130004611, LOC130004612, LOC130004613, LOC130004614, LOC130004615, LOC130004616, LOC130004617, LOC130004618, LOC130004619, LOC130004620, LOC130004621, LOC130004622, LOC130004623, LOC130004624, LOC130004625, LOC130004626, LOC130004627, LOC130004628, LOC130004629, LOC130004630, LOC130004631, LOC130004632, LOC130004633, LOC130004634, LOC130004635, LOC130004636, LOC130004637, LOC130004638, LOC130004639, LOC130004640, LOC130004641, LOC130004642, LOC130004643, LOC130004644, LOC130004645, LOC130004646, LOC130004647, LOC130004648, LOC130004649, LOC130004650, LOC130004651, LOC130004652, LOC130004653, LOC130004654, LOC130004655, LOC130004656, LOC130004657, LOC130004658, LOC130004659, LOC130004660, LOC130004661, LOC130004662, LOC130004663, LOC130004664, LOC130004665, LOC130004666, LOC130004667, LOC130004668, LOC130004669, LOC130004670, LOC130004671, LOC130004672, LOC130004673, LOC130004674, LOC130004675, LOC130004676, LOC130004677, LOC130004678, LOC130004679, LOC130004680, LOC130004681, LOC130004682, LOC130004683, LOC130004684, LOC130004685, LOC130004686, LOC130004687, LOC130004688, LOC130004689, LOC130004690, LOC130004691, LOC130004692, LOC130004693, LOC130004694, LOC130004695, LOC130004696, LOC130004697, LOC130004698, LOC130004699, LOC130004700, LOC130004701, LOC130004702, LOC130004703, LOC130004704, LOC130004705, LOC130004706, LOC130004707, LOC130004708, LOC130004709, LOC130004710, LOC130004711, LOC130004712, LOC130004713, LOC130004714, LOC130004715, LOC130004716, LOC130004717, LOC130004718, LOC130004719, LOC130004720, LOC130004721, LOC130004722, LOC130004723, LOC130004724, LOC130004725, LOC130004726, LOC130004727, LOC130004728, LOC130004729, LOC130004730, LOC130004731, LOC130004732, LOC130004733, LOC130004734, LOC130004735, LOC130004736, LOC130004737, LOC130004738, LOC130004739, LOC130004740, LOC130004741, LOC130004742, LOC130004743, LOC130004744, LOC130004745, LOC130004746, LOC130004747, LOC130004748, LOC130004749, LOC130004750, LOC130004751, LOC130004752, LOC130004753, LOC130004754, LOC130004755, LOC130004756, LOC130004757, LOC130004758, LOC130004759, LOC130004760, LOC130004761, LOC130004762, LOC130004763, LOC130004764, LOC130004765, LOC130004766, LOC130004767, LOC130004768, LOC130004769, LOC130004770, LOC130004771, LOC130004772, LOC130004773, LOC130004774, LOC130004775, LOC130004776, LOC130004777, LOC130004778, LOC130004779, LOC130004780, LOC130004781, LOC130004782, LOC130004783, LOC130004784, LOC130004785, LOC130004786, LOC130004787, LOC130004788, LOC130004789, LOC130004790, LOC130004791, LOC130004792, LOC130004793, LOC130004794, LOC130004795, LOC130004796, LOC130004797, LOC130004798, LOC130004799, LOC130004800, LOC130004801, LOC130004802, LOC130004803, LOC130004804, LOC130004805, LOC130004806, LOC130004807, LOC130004808, LOC130004809, LOC130004810, LOC130004811, LOC130004812, LOC130004813, LOC130004814, LOC130004815, LOC130004816, LOC130004817, LOC130004818, LOC130004819, LOC130004820, LOC130004821, LOC130004822, LOC130004823, LOC130004824, LOC130004825, LOC130004826, LOC130004827, LOC130004828, LOC130004829, LOC130004830, LOC130004831, LOC130004832, LOC130004833, LOC130004834, LOC130004835, LOC130004836, LOC130004837, LOC130004838, LOC130004839, LOC130004840, LOC130004841, LOC130004842, LOC130004843, LOC130004844, LOC130004845, LOC130004846, LOC130004847, LOC130004848, LOC130004849, LOC130004850, LOC130004851, LOC130004852, LOC130004853, LOC130004854, LOC130004855, LOC130004856, LOC130004857, LOC130004858, LOC130004859, LOC130004860, LOC130004861, LOC130004862, LOC130004863, LOC130004864, LOC130004865, LOC130004866, LOC130004867, LOC130004868, LOC130004869, LOC130004870, LOC130004871, LOC130004872, LOC130004873, LOC130004874, LOC130004875, LOC130004876, LOC130004877, LOC130004878, LOC130004879, LOC130004880, LOC130004881, LOC130004882, LOC130004883, LOC130004884, LOC130004885, LOC130004886, LOC130004887, LOC130004888, LOC130004889, LOC130004890, LOC130004891, LOC130004892, LOC130004893, LOC130004894, LOC130004895, LOC130004896, LOC130004897, LOC130004898, LOC130004899, LOC130004900, LOC130004901, LOC130004902, LOC130004903, LOC130004904, LOC130004905, LOC130004906, LOC130004907, LOC130004908, LOC130004909, LOC130004910, LOC130004911, LOC130004912, LOC130004913, LOC130004914, LOC130004915, LOC130004916, LOC130004917, LOC130004918, LOC130004919, LOC130004920, LOC130004921, LOC130004922, LOC130004923, LOC130004924, LOC130004925, LOC130004926, LOC130004927, LOC130004928, LOC130004929, LOC130004930, LOC130004931, LOC130004932, LOC130004933, LOC130004934, LOC130004935, LOC130004936, LOC130004937, LOC130004938, LOC130004939, LOC130004940, LOC130004941, LOC130004942, LOC130004943, LOC130004944, LOC130004945, LOC130004946, LOC130004947, LOC130004948, LOC130004949, LOC130004950, LOC130004951, LOC130004952, LOC130004953, LOC130004954, LOC130004955, LOC130004956, LOC130004957, LOC130004958, LOC130004959, LOC130004960, LOC130004961, LOC130004962, LOC130004963, LOC130004964, LOC130004965, LOC130004966, LOC130004967, LOC130004968, LOC130004969, LOC130004970, LOC130004971, LOC130004972, LOC130004973, LOC130004974, LOC130004975, LOC130004976, LOC130004977, LOC130004978, LOC130004979, LOC130004980, LOC130004981, LOC130004982, LOC130004983, LOC130004984, LOC130004985, LOC130004986, LOC130004987, LOC130004988, LOC130004989, LOC130004990, LOC130004991, LOC130004992, LOC130004993, LOC130004994, LOC132089741, LOC132089742, LOC132089743, LOC132089744, LOC132089745, LOC132089746, ABLIM1, ABRAXAS2, ACADSB, ACSL5, ACTR1A, ADAM12, ADD3, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ARL3, ARMH3, ARMS2, AS-PTPRE, AS3MT, ATE1, ATE1-AS1, ATP5MK, ATRNL1, BAG3, BBIP1, BCCIP, BLOC1S2, BNIP3, BORCS7, BORCS7-ASMT, BTBD16, BTRC, BUB3, C10orf120, C10orf143, C10orf88, C10orf90, C10orf95, C10orf95-AS1, CACUL1, CALHM1, CALHM2, CALHM3, CASC2, CASP7, CCDC172, CCDC186, CFAP43, CFAP58, CFAP58-DT, CHST15, CHUK, CHUK-DT, CLRN3, CNNM2, COL17A1, CPXM2, CTBP2, CUEDC2, CUZD1, CWF19L1, CYP17A1, CYP17A1-AS1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPCD, DPYSL4, DUSP5, DUSP5-DT, EBF3, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, ELOVL3, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FBXL15, FBXW4, FGF8, FGFR2, FHIP2A, FOXI2, FRA10B, GBF1, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, GSTO1, GSTO2, HABP2, HEAT2, HIF1AN, HMX2, HMX3, HPS6, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INA, INPP5F, INSYN2A, ITPRIP, ITPRIP-AS1, JAKMIP3, JAKMIP3-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, KCNK18, LBX1, LBX1-AS1, LDB1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01435, LINC01514, LINC01561, LINC02620, LINC02624, LINC02626, LINC02627, LINC02641, LINC02661, LINC02667, LINC02674, LINC02681, LINC03036, LINC03046, LINC03068, LOC101927692, LOC102724883, LOC103344931, LOC105378479, LOC105378482, LOC105378552, LOC107984265, LOC107984281, LOC109136576, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121311, LOC110121334, LOC110121344, LOC110121396, LOC110121472, LOC110408762, LOC111501773, LOC111818958, LOC111818962, LOC111818963, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC113939913, LOC113939914, LOC113939915, LOC116216120, LOC116216121, LOC116216122, LOC116216123, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815961, LOC121815962, LOC121815963, LOC121815964, LOC121815965, LOC121815966, LOC121815967, LOC121815968, LOC121815969, LOC121815970, LOC121815971, LOC121815972, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416890, LOC124416891, LOC124416892, LOC124416893, LOC124416894, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC126861016, LOC126861017, LOC126861018, LOC126861019, LOC126861020, LOC126861021, LOC126861022, LOC126861023, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC126861055, LOC126861056, LOC126861057, LOC126861058, LOC126861059, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, LOC126861070, LOC126861071, LOC126861072, LOC126861073, LOC126861074, LOC126861075, LOC126861076, LOC126861077, LOC126861078, LOC126861079, LOC126861080, LOC132089747, LOC132089748, LOC132089749, LOC132089750, LOC132089751, LOC132089752, LOC132089753, LOC132089754, LOC132089755, LOC132089756, LOC132089757, LOC132089758, LOC132089759, LOC132089760, LOC132089761, LOC132089879, LOC132089880, LOC132089881, LOC132089882, LOC132089883, LOC132089884, LOC132090825, LOC132090826, LOC132090827, LOC132090828, LOC132090829, LOC132090830, LOC132211103, LOC132211104, LOC283038, LOC728158, LRRC27, LZTS2, MCMBP, MFSD13A, MGMT, MIR1307, MIR146B, MIR2110, MIR3158-1, MIR3158-2, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR4295, MIR4296, MIR4297, MIR4482, MIR4483, MIR4484, MIR4680, MIR4681, MIR4682, MIR548E, MIR608, MIR609, MIR6715A, MIR6715B, MIR936, MIR9851, MKI67, MMP21, MRPL43, MXI1, NANOS1, NDUFB8, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX1-2, NOLC1, NPM3, NPS, NRAP, NSMCE4A, NT5C2, OAT, OGA, OLMALINC, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDZD7, PDZD8, PITX3, PKD2L1, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPP2R2D, PPRC1, PRDX3, PRLHR, PSD, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, RPEL1, SCD, SEC23IP, SEC31B, SEMA4G, SFR1, SFXN2, SFXN3, SFXN4, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SLF2, SLK, SMC3, SMNDC1, SNORA12, SNORA19, SNORA87, SNORD158, SORCS1, SORCS3, SORCS3-AS1, SPADH, SPMIP5, STK32C, STN1, SUFU, TACC2, TAF5, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TLX1, TLX1NB, TRIM8, TRIM8-DT, TRUB1, TWNK, UROS, VAX1, VTI1A, VWA2, WBP1L, WDR11, WDR11-DT, WNT8B, XPNPEP1, ZDHHC6, ZRANB1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102360249-135436092
- GRCh38:
- Chr10:100600492-133622588
| ABLIM1, ABRAXAS2, ACADSB, ACSL5, ACTR1A, ADAM12, ADAM8, ADD3, ADD3-AS1, ADGRA1, ADGRA1-AS1, ADRA2A, ADRB1, AFAP1L2, ARL3, ARMH3, ARMS2, AS-PTPRE, AS3MT, ATE1, ATE1-AS1, ATP5MK, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BORCS7, BORCS7-ASMT, BTBD16, BTRC, BUB3, C10orf120, C10orf143, C10orf88, C10orf90, C10orf95, C10orf95-AS1, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP43, CFAP46, CFAP58, CFAP58-DT, CHST15, CLRN3, CNNM2, COL17A1, CPXM2, CTBP2, CUEDC2, CUZD1, CYP17A1, CYP17A1-AS1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPCD, DPYSL4, DUSP5, DUSP5-DT, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, ELOVL3, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FBXL15, FBXW4, FGF8, FGFR2, FHIP2A, FOXI2, FRA10B, FUOM, GBF1, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, GSTO1, GSTO2, HABP2, HEAT2, HMX2, HMX3, HPS6, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INA, INPP5A, INPP5F, INSYN2A, ITPRIP, ITPRIP-AS1, JAKMIP3, JAKMIP3-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, KCNK18, KNDC1, LBX1, LBX1-AS1, LDB1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01435, LINC01514, LINC01561, LINC02620, LINC02624, LINC02626, LINC02627, LINC02641, LINC02661, LINC02667, LINC02674, LINC02681, LINC02870, LINC03036, LINC03046, LINC03068, LOC101927692, LOC102724883, LOC103344931, LOC105378479, LOC105378482, LOC105378552, LOC107984265, LOC107984281, LOC107984282, LOC109136576, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110408762, LOC110599579, LOC110599585, LOC111501773, LOC111818958, LOC111818962, LOC111818963, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC113939913, LOC113939914, LOC113939915, LOC116216120, LOC116216121, LOC116216122, LOC116216123, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815962, LOC121815963, LOC121815964, LOC121815965, LOC121815966, LOC121815967, LOC121815968, LOC121815969, LOC121815970, LOC121815971, LOC121815972, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416890, LOC124416891, LOC124416892, LOC124416893, LOC124416894, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC124416936, LOC126861016, LOC126861017, LOC126861018, LOC126861019, LOC126861020, LOC126861021, LOC126861022, LOC126861023, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC126861055, LOC126861056, LOC126861057, LOC126861058, LOC126861059, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, LOC126861070, LOC126861071, LOC126861072, LOC126861073, LOC126861074, LOC126861075, LOC126861076, LOC126861077, LOC126861078, LOC126861079, LOC126861080, LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC126861101, LOC126861102, LOC126861103, LOC126861104, LOC126861105, LOC130005033, LOC130005034, LOC130005035, LOC130005036, LOC132089741, LOC132089742, LOC132089743, LOC132089744, LOC132089745, LOC132089746, LOC132089747, LOC132089748, LOC132089749, LOC132089750, LOC132089751, LOC132089752, LOC132089753, LOC132089754, LOC132089755, LOC132089756, LOC132089757, LOC132089758, LOC132089759, LOC132089760, LOC132089761, LOC132089879, LOC132089880, LOC132089881, LOC132089882, LOC132089883, LOC132089884, LOC132090825, LOC132090826, LOC132090827, LOC132090828, LOC132090829, LOC132090830, LOC132211103, LOC132211104, LOC283038, LOC728158, LRRC27, LZTS2, MCMBP, MFSD13A, MGMT, MIR1307, MIR146B, MIR202, MIR202HG, MIR2110, MIR3158-1, MIR3158-2, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR3944, MIR4295, MIR4296, MIR4297, MIR4482, MIR4483, MIR4484, MIR4680, MIR4681, MIR4682, MIR548E, MIR608, MIR609, MIR6715A, MIR6715B, MIR936, MIR9851, MKI67, MMP21, MRPL43, MTG1, MXI1, NANOS1, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX1-2, NKX6-2, NOLC1, NPM3, NPS, NRAP, NSMCE4A, NT5C2, OAT, OGA, PAOX, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDZD7, PDZD8, PITX3, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PSD, POLL, PPP2R2D, PPRC1, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, RPEL1, SCART1, SEC23IP, SEMA4G, SFR1, SFXN2, SFXN3, SFXN4, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SLF2, SLK, SMC3, SMNDC1, SNORA19, SNORA87, SNORD158, SORCS1, SORCS3, SORCS3-AS1, SPADH, SPMIP5, SPRN, STK32C, STN1, SUFU, SYCE1, TACC2, TAF5, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TLX1, TLX1NB, TRIM8, TRIM8-DT, TRUB1, TUBGCP2, TWNK, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WBP1L, WDR11, WDR11-DT, XPNPEP1, ZDHHC6, ZNF511, ZNF511-PRAP1, ZRANB1, LOC126861106, LOC126861107, LOC128598885, LOC128772341, LOC129390224, LOC129390225, LOC129390226, LOC129390227, LOC129390228, LOC129390229, LOC129390230, LOC129390231, LOC129390232, LOC129390233, LOC129390234, LOC129390235, LOC129390236, LOC129390237, LOC129390238, LOC129390239, LOC129390240, LOC129390241, LOC129390242, LOC130004534, LOC130004535, LOC130004536, LOC130004537, LOC130004538, LOC130004539, LOC130004540, LOC130004541, LOC130004542, LOC130004543, LOC130004544, LOC130004545, LOC130004546, LOC130004547, LOC130004548, LOC130004549, LOC130004550, LOC130004551, LOC130004552, LOC130004553, LOC130004554, LOC130004555, LOC130004556, LOC130004557, LOC130004558, LOC130004559, LOC130004560, LOC130004561, LOC130004562, LOC130004563, LOC130004564, LOC130004565, LOC130004566, LOC130004567, LOC130004568, LOC130004569, LOC130004570, LOC130004571, LOC130004572, LOC130004573, LOC130004574, LOC130004575, LOC130004576, LOC130004577, LOC130004578, LOC130004579, LOC130004580, LOC130004581, LOC130004582, LOC130004583, LOC130004584, LOC130004585, LOC130004586, LOC130004587, LOC130004588, LOC130004589, LOC130004590, LOC130004591, LOC130004592, LOC130004593, LOC130004594, LOC130004595, LOC130004596, LOC130004597, LOC130004598, LOC130004599, LOC130004600, LOC130004601, LOC130004602, LOC130004603, LOC130004604, LOC130004605, LOC130004606, LOC130004607, LOC130004608, LOC130004609, LOC130004610, LOC130004611, LOC130004612, LOC130004613, LOC130004614, LOC130004615, LOC130004616, LOC130004617, LOC130004618, LOC130004619, LOC130004620, LOC130004621, LOC130004622, LOC130004623, LOC130004624, LOC130004625, LOC130004626, LOC130004627, LOC130004628, LOC130004629, LOC130004630, LOC130004631, LOC130004632, LOC130004633, LOC130004634, LOC130004635, LOC130004636, LOC130004637, LOC130004638, LOC130004639, LOC130004640, LOC130004641, LOC130004642, LOC130004643, LOC130004644, LOC130004645, LOC130004646, LOC130004647, LOC130004648, LOC130004649, LOC130004650, LOC130004651, LOC130004652, LOC130004653, LOC130004654, LOC130004655, LOC130004656, LOC130004657, LOC130004658, LOC130004659, LOC130004660, LOC130004661, LOC130004662, LOC130004663, LOC130004664, LOC130004665, LOC130004666, LOC130004667, LOC130004668, LOC130004669, LOC130004670, LOC130004671, LOC130004672, LOC130004673, LOC130004674, LOC130004675, LOC130004676, LOC130004677, LOC130004678, LOC130004679, LOC130004680, LOC130004681, LOC130004682, LOC130004683, LOC130004684, LOC130004685, LOC130004686, LOC130004687, LOC130004688, LOC130004689, LOC130004690, LOC130004691, LOC130004692, LOC130004693, LOC130004694, LOC130004695, LOC130004696, LOC130004697, LOC130004698, LOC130004699, LOC130004700, LOC130004701, LOC130004702, LOC130004703, LOC130004704, LOC130004705, LOC130004706, LOC130004707, LOC130004708, LOC130004709, LOC130004710, LOC130004711, LOC130004712, LOC130004713, LOC130004714, LOC130004715, LOC130004716, LOC130004717, LOC130004718, LOC130004719, LOC130004720, LOC130004721, LOC130004722, LOC130004723, LOC130004724, LOC130004725, LOC130004726, LOC130004727, LOC130004728, LOC130004729, LOC130004730, LOC130004731, LOC130004732, LOC130004733, LOC130004734, LOC130004735, LOC130004736, LOC130004737, LOC130004738, LOC130004739, LOC130004740, LOC130004741, LOC130004742, LOC130004743, LOC130004744, LOC130004745, LOC130004746, LOC130004747, LOC130004748, LOC130004749, LOC130004750, LOC130004751, LOC130004752, LOC130004753, LOC130004754, LOC130004755, LOC130004756, LOC130004757, LOC130004758, LOC130004759, LOC130004760, LOC130004761, LOC130004762, LOC130004763, LOC130004764, LOC130004765, LOC130004766, LOC130004767, LOC130004768, LOC130004769, LOC130004770, LOC130004771, LOC130004772, LOC130004773, LOC130004774, LOC130004775, LOC130004776, LOC130004777, LOC130004778, LOC130004779, LOC130004780, LOC130004781, LOC130004782, LOC130004783, LOC130004784, LOC130004785, LOC130004786, LOC130004787, LOC130004788, LOC130004789, LOC130004790, LOC130004791, LOC130004792, LOC130004793, LOC130004794, LOC130004795, LOC130004796, LOC130004797, LOC130004798, LOC130004799, LOC130004800, LOC130004801, LOC130004802, LOC130004803, LOC130004804, LOC130004805, LOC130004806, LOC130004807, LOC130004808, LOC130004809, LOC130004810, LOC130004811, LOC130004812, LOC130004813, LOC130004814, LOC130004815, LOC130004816, LOC130004817, LOC130004818, LOC130004819, LOC130004820, LOC130004821, LOC130004822, LOC130004823, LOC130004824, LOC130004825, LOC130004826, LOC130004827, LOC130004828, LOC130004829, LOC130004830, LOC130004831, LOC130004832, LOC130004833, LOC130004834, LOC130004835, LOC130004836, LOC130004837, LOC130004838, LOC130004839, LOC130004840, LOC130004841, LOC130004842, LOC130004843, LOC130004844, LOC130004845, LOC130004846, LOC130004847, LOC130004848, LOC130004849, LOC130004850, LOC130004851, LOC130004852, LOC130004853, LOC130004854, LOC130004855, LOC130004856, LOC130004857, LOC130004858, LOC130004859, LOC130004860, LOC130004861, LOC130004862, LOC130004863, LOC130004864, LOC130004865, LOC130004866, LOC130004867, LOC130004868, LOC130004869, LOC130004870, LOC130004871, LOC130004872, LOC130004873, LOC130004874, LOC130004875, LOC130004876, LOC130004877, LOC130004878, LOC130004879, LOC130004880, LOC130004881, LOC130004882, LOC130004883, LOC130004884, LOC130004885, LOC130004886, LOC130004887, LOC130004888, LOC130004889, LOC130004890, LOC130004891, LOC130004892, LOC130004893, LOC130004894, LOC130004895, LOC130004896, LOC130004897, LOC130004898, LOC130004899, LOC130004900, LOC130004901, LOC130004902, LOC130004903, LOC130004904, LOC130004905, LOC130004906, LOC130004907, LOC130004908, LOC130004909, LOC130004910, LOC130004911, LOC130004912, LOC130004913, LOC130004914, LOC130004915, LOC130004916, LOC130004917, LOC130004918, LOC130004919, LOC130004920, LOC130004921, LOC130004922, LOC130004923, LOC130004924, LOC130004925, LOC130004926, LOC130004927, LOC130004928, LOC130004929, LOC130004930, LOC130004931, LOC130004932, LOC130004933, LOC130004934, LOC130004935, LOC130004936, LOC130004937, LOC130004938, LOC130004939, LOC130004940, LOC130004941, LOC130004942, LOC130004943, LOC130004944, LOC130004945, LOC130004946, LOC130004947, LOC130004948, LOC130004949, LOC130004950, LOC130004951, LOC130004952, LOC130004953, LOC130004954, LOC130004955, LOC130004956, LOC130004957, LOC130004958, LOC130004959, LOC130004960, LOC130004961, LOC130004962, LOC130004963, LOC130004964, LOC130004965, LOC130004966, LOC130004967, LOC130004968, LOC130004969, LOC130004970, LOC130004971, LOC130004972, LOC130004973, LOC130004974, LOC130004975, LOC130004976, LOC130004977, LOC130004978, LOC130004979, LOC130004980, LOC130004981, LOC130004982, LOC130004983, LOC130004984, LOC130004985, LOC130004986, LOC130004987, LOC130004988, LOC130004989, LOC130004990, LOC130004991, LOC130004992, LOC130004993, LOC130004994, LOC130004995, LOC130004996, LOC130004997, LOC130004998, LOC130004999, LOC130005000, LOC130005001, LOC130005002, LOC130005003, LOC130005004, LOC130005005, LOC130005006, LOC130005007, LOC130005008, LOC130005009, LOC130005010, LOC130005011, LOC130005012, LOC130005013, LOC130005014, LOC130005015, LOC130005016, LOC130005017, LOC130005018, LOC130005019, LOC130005020, LOC130005021, LOC130005022, LOC130005023, LOC130005024, LOC130005025, LOC130005026, LOC130005027, LOC130005028, LOC130005029, LOC130005030, LOC130005031, LOC130005032 | | See cases | Pathogenic (Sep 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr10:102437474-102524276
- GRCh38:
- Chr10:100677717-100764519
| LOC130004535, PAX2 | | See cases | Pathogenic (Aug 19, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr10:102495478
- GRCh38:
- Chr10:100735721
| PAX2 | A5T | not provided | Uncertain significance (Sep 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102495521
- GRCh38:
- Chr10:100735764
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Benign (Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505147
- GRCh38:
- Chr10:100745390
| PAX2 | | not provided | Benign (Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505339
- GRCh38:
- Chr10:100745582
| PAX2 | | not provided | Likely benign (Sep 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505359
- GRCh38:
- Chr10:100745602
| PAX2 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505462
- GRCh38:
- Chr10:100745705
| PAX2 | | not provided | Likely benign (Mar 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505463
- GRCh38:
- Chr10:100745706
| PAX2 | | not provided | Likely benign (Mar 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505604
- GRCh38:
- Chr10:100745847
| PAX2 | | not provided | Likely benign (Jun 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505643
- GRCh38:
- Chr10:100745886
| PAX2 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505815
- GRCh38:
- Chr10:100746058
| PAX2 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505858
- GRCh38:
- Chr10:100746101
| PAX2 | | not provided | Benign (Jan 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102505924
- GRCh38:
- Chr10:100746167
| PAX2 | | not provided | Likely benign (Apr 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506018
- GRCh38:
- Chr10:100746261
| PAX2 | M1V, M32V | Focal segmental glomerulosclerosis 7 | Uncertain significance (Sep 17, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:102506025
- GRCh38:
- Chr10:100746268
| PAX2 | M3T, M34T | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Uncertain significance (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506025
- GRCh38:
- Chr10:100746268
| PAX2 | M34K, M3K | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506043
- GRCh38:
- Chr10:100746286
| PAX2 | P40R, P9R | not provided | Uncertain significance (Feb 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506051-102506086
- GRCh38:
- Chr10:100746294-100746329
| PAX2 | | not provided | Pathogenic (May 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506061
- GRCh38:
- Chr10:100746304
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely pathogenic (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506065
- GRCh38:
- Chr10:100746308
| PAX2 | | Focal segmental glomerulosclerosis 7, PAX2-related condition | Conflicting interpretations of pathogenicity (Nov 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102506065
- GRCh38:
- Chr10:100746308
| PAX2 | | not provided | Likely pathogenic (Jan 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506069
- GRCh38:
- Chr10:100746312
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Mar 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506070
- GRCh38:
- Chr10:100746313
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, not specified, not provided, Renal coloboma syndrome
| Benign (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102506073
- GRCh38:
- Chr10:100746316
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506080
- GRCh38:
- Chr10:100746323
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102506103
- GRCh38:
- Chr10:100746346
| PAX2 | | not provided, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
| Benign (Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102509223
- GRCh38:
- Chr10:100749466
| PAX2 | | not provided | Likely benign (Jan 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509275
- GRCh38:
- Chr10:100749518
| PAX2 | | not provided | Benign (Jan 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509287
- GRCh38:
- Chr10:100749530
| PAX2 | | not provided | Likely benign (Apr 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509323
- GRCh38:
- Chr10:100749566
| PAX2 | | not provided | Benign (Jan 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509455
- GRCh38:
- Chr10:100749698
| PAX2 | | not provided | Likely benign (Oct 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509490-102509491
- GRCh38:
- Chr10:100749733-100749734
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, not specified
| Uncertain significance (Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102509500-102509502
- GRCh38:
- Chr10:100749743-100749745
| PAX2 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr10:102509501
- GRCh38:
- Chr10:100749744
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely pathogenic (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509507
- GRCh38:
- Chr10:100749750
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely benign (Jun 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509513
- GRCh38:
- Chr10:100749756
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely benign (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509516-102509517
- GRCh38:
- Chr10:100749759-100749760
| PAX2 | Q53fs, Q22fs | not provided | Pathogenic (Oct 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509518
- GRCh38:
- Chr10:100749761
| PAX2 | V51fs, V20fs | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr10:102509527
- GRCh38:
- Chr10:100749770
| PAX2 | L23fs, L54fs | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr10:102509528
- GRCh38:
- Chr10:100749771
| PAX2 | V26fs, V57fs | not provided | Pathogenic (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509528-102509529
- GRCh38:
- Chr10:100749771-100749772
| PAX2 | V26fs, V57fs | PAX2-related condition, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, not provided, Renal coloboma syndrome
| Pathogenic (Nov 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102509528-102509529
- GRCh38:
- Chr10:100749771-100749772
| PAX2 | V26fs, V57fs | Renal coloboma syndrome | Pathogenic (Mar 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:102509529
- GRCh38:
- Chr10:100749772
| PAX2 | G55R, G24R | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509529
- GRCh38:
- Chr10:100749772
| PAX2 | G24W, G55W | Renal coloboma syndrome | Likely pathogenic (Feb 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509529
- GRCh38:
- Chr10:100749772
| PAX2 | G24R, G55R | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509529
- GRCh38:
- Chr10:100749772
| PAX2 | V26fs, V57fs | PAX2-related disorder, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, Renal coloboma syndrome | Pathogenic (Sep 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102509530
- GRCh38:
- Chr10:100749773
| PAX2 | G55E, G24E | Inborn genetic diseases | Uncertain significance (Jul 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509530
- GRCh38:
- Chr10:100749773
| PAX2 | G24A, G55A | PAX2-related condition, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
| Conflicting interpretations of pathogenicity (Sep 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102509531
- GRCh38:
- Chr10:100749774
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Oct 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509534
- GRCh38:
- Chr10:100749777
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely benign (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509535
- GRCh38:
- Chr10:100749778
| PAX2 | V26M, V57M | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Uncertain significance (Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509535
- GRCh38:
- Chr10:100749778
| PAX2 | V26L, V57L | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509535
- GRCh38:
- Chr10:100749778
| PAX2 | V26L, V57L | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509551
- GRCh38:
- Chr10:100749794
| PAX2 | R62Q, R31Q | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Uncertain significance (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509553
- GRCh38:
- Chr10:100749796
| PAX2 | L33fs, L64fs | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Pathogenic (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509555
- GRCh38:
- Chr10:100749798
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509561
- GRCh38:
- Chr10:100749804
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509562
- GRCh38:
- Chr10:100749805
| PAX2 | D66H, D35H | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Uncertain significance (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509562
- GRCh38:
- Chr10:100749805
| PAX2 | D66N, D35N | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509572
- GRCh38:
- Chr10:100749815
| PAX2 | R38K, R69K | not provided | Likely pathogenic (Sep 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:102509574
- GRCh38:
- Chr10:100749817
| PAX2 | Q39*, Q70* | PAX2-related condition | Likely pathogenic (Mar 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509574
- GRCh38:
- Chr10:100749817
| PAX2 | Q39fs, Q70fs | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Pathogenic (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509574-102509579
- GRCh38:
- Chr10:100749817-100749822
| PAX2 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr10:102509576
- GRCh38:
- Chr10:100749819
| PAX2 | Q39H, Q70H | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Uncertain significance (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509576-102509577
- GRCh38:
- Chr10:100749819-100749820
| PAX2 | R40fs, R71fs | not provided | Pathogenic (Oct 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509579
- GRCh38:
- Chr10:100749822
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Uncertain significance (Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509582
- GRCh38:
- Chr10:100749825
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely benign (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509584
- GRCh38:
- Chr10:100749827
| PAX2 | V42A, V73A | Renal coloboma syndrome | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509588
- GRCh38:
- Chr10:100749831
| PAX2 | | not provided | Likely benign (Oct 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509589-102509610
- GRCh38:
- Chr10:100749832-100749853
| PAX2 | L75fs, L44fs | Renal coloboma syndrome | Pathogenic (Mar 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:102509607
- GRCh38:
- Chr10:100749850
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509607
- GRCh38:
- Chr10:100749850
| PAX2 | R81W, R50W | Renal coloboma syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509618
- GRCh38:
- Chr10:100749861
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely benign (Aug 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509624
- GRCh38:
- Chr10:100749867
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Uncertain significance (Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509626
- GRCh38:
- Chr10:100749869
| PAX2 | R56Q, R87Q | Focal segmental glomerulosclerosis 7 | Pathogenic (Sep 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr10:102509633
- GRCh38:
- Chr10:100749876
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509634
- GRCh38:
- Chr10:100749877
| PAX2 | R59W, R90W | Focal segmental glomerulosclerosis 7 | Uncertain significance (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509641
- GRCh38:
- Chr10:100749884
| PAX2 | S61I, S92I | PAX2-related condition | Likely pathogenic (Jul 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509641
- GRCh38:
- Chr10:100749884
| PAX2 | S92N, S61N | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Uncertain significance (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509645
- GRCh38:
- Chr10:100749888
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509646
- GRCh38:
- Chr10:100749889
| PAX2 | G63S, G94S | not provided | Pathogenic (Oct 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509647
- GRCh38:
- Chr10:100749890
| PAX2 | G63D, G94D | Renal coloboma syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509653
- GRCh38:
- Chr10:100749896
| PAX2 | V65A, V96A | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Uncertain significance (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509657
- GRCh38:
- Chr10:100749900
| PAX2 | S97R, S66R | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509662
- GRCh38:
- Chr10:100749905
| PAX2 | I68N, I99N | PAX2-related condition | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509670
- GRCh38:
- Chr10:100749913
| PAX2 | R102G, R71G | Renal coloboma syndrome | Uncertain significance (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509671
- GRCh38:
- Chr10:100749914
| PAX2 | R71T, R102T | Papillorenal syndrome with macular abnormalities | Pathogenic (Mar 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:102509672
- GRCh38:
- Chr10:100749915
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely pathogenic (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509678
- GRCh38:
- Chr10:100749921
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509683
- GRCh38:
- Chr10:100749926
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Benign/Likely benign (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102509689
- GRCh38:
- Chr10:100749932
| PAX2 | | Focal segmental glomerulosclerosis 7, Renal coloboma syndrome | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102509971
- GRCh38:
- Chr10:100750214
| PAX2 | | not provided | Benign (Jan 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102510294
- GRCh38:
- Chr10:100750537
| PAX2 | | not provided | Benign (Jan 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102510431
- GRCh38:
- Chr10:100750674
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, not specified
| Likely benign (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102510434
- GRCh38:
- Chr10:100750677
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102510435
- GRCh38:
- Chr10:100750678
| PAX2 | | Renal coloboma syndrome, Focal segmental glomerulosclerosis 7 | Likely benign (Feb 8, 2022) | criteria provided, single submitter |