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Items: 1 to 100 of 406

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Sep 12, 2011)
no assertion criteria provided
5.
GRCh37:
Chr10:102437474-102524276
GRCh38:
Chr10:100677717-100764519
LOC130004535, PAX2See casesPathogenic
(Aug 19, 2011)
no assertion criteria provided
6.
GRCh37:
Chr10:102495478
GRCh38:
Chr10:100735721
PAX2A5Tnot providedUncertain significance
(Sep 1, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr10:102495521
GRCh38:
Chr10:100735764
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeBenign
(Sep 5, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr10:102505147
GRCh38:
Chr10:100745390
PAX2not providedBenign
(Jul 17, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr10:102505339
GRCh38:
Chr10:100745582
PAX2not providedLikely benign
(Sep 26, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr10:102505359
GRCh38:
Chr10:100745602
PAX2not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr10:102505462
GRCh38:
Chr10:100745705
PAX2not providedLikely benign
(Mar 2, 2020)
criteria provided, single submitter
12.
GRCh37:
Chr10:102505463
GRCh38:
Chr10:100745706
PAX2not providedLikely benign
(Mar 2, 2020)
criteria provided, single submitter
13.
GRCh37:
Chr10:102505604
GRCh38:
Chr10:100745847
PAX2not providedLikely benign
(Jun 29, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr10:102505643
GRCh38:
Chr10:100745886
PAX2not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr10:102505815
GRCh38:
Chr10:100746058
PAX2not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr10:102505858
GRCh38:
Chr10:100746101
PAX2not providedBenign
(Jan 25, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr10:102505924
GRCh38:
Chr10:100746167
PAX2not providedLikely benign
(Apr 3, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr10:102506018
GRCh38:
Chr10:100746261
PAX2M1V, M32VFocal segmental glomerulosclerosis 7Uncertain significance
(Sep 17, 2018)
no assertion criteria provided
19.
GRCh37:
Chr10:102506025
GRCh38:
Chr10:100746268
PAX2M3T, M34TRenal coloboma syndrome, Focal segmental glomerulosclerosis 7Uncertain significance
(Jun 15, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr10:102506025
GRCh38:
Chr10:100746268
PAX2M34K, M3KFocal segmental glomerulosclerosis 7, Renal coloboma syndromeUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:102506043
GRCh38:
Chr10:100746286
PAX2P40R, P9Rnot providedUncertain significance
(Feb 14, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr10:102506051-102506086
GRCh38:
Chr10:100746294-100746329
PAX2not providedPathogenic
(May 13, 2019)
criteria provided, single submitter
23.
GRCh37:
Chr10:102506061
GRCh38:
Chr10:100746304
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely pathogenic
(Mar 26, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:102506065
GRCh38:
Chr10:100746308
PAX2Focal segmental glomerulosclerosis 7, PAX2-related conditionConflicting interpretations of pathogenicity
(Nov 18, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr10:102506065
GRCh38:
Chr10:100746308
PAX2not providedLikely pathogenic
(Jan 15, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr10:102506069
GRCh38:
Chr10:100746312
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Mar 31, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr10:102506070
GRCh38:
Chr10:100746313
PAX2Focal 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
28.
GRCh37:
Chr10:102506073
GRCh38:
Chr10:100746316
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeBenign
(Aug 20, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:102506080
GRCh38:
Chr10:100746323
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Oct 7, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr10:102506103
GRCh38:
Chr10:100746346
PAX2not provided, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:102509223
GRCh38:
Chr10:100749466
PAX2not providedLikely benign
(Jan 23, 2020)
criteria provided, single submitter
32.
GRCh37:
Chr10:102509275
GRCh38:
Chr10:100749518
PAX2not providedBenign
(Jan 25, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr10:102509287
GRCh38:
Chr10:100749530
PAX2not providedLikely benign
(Apr 3, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr10:102509323
GRCh38:
Chr10:100749566
PAX2not providedBenign
(Jan 25, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr10:102509455
GRCh38:
Chr10:100749698
PAX2not providedLikely benign
(Oct 13, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr10:102509490-102509491
GRCh38:
Chr10:100749733-100749734
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndrome, not specified
Uncertain significance
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr10:102509500-102509502
GRCh38:
Chr10:100749743-100749745
PAX2not providednot providedno assertion provided
38.
GRCh37:
Chr10:102509501
GRCh38:
Chr10:100749744
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely pathogenic
(Jul 27, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr10:102509507
GRCh38:
Chr10:100749750
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely benign
(Jun 24, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr10:102509513
GRCh38:
Chr10:100749756
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely benign
(Apr 4, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr10:102509516-102509517
GRCh38:
Chr10:100749759-100749760
PAX2Q53fs, Q22fsnot providedPathogenic
(Oct 19, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr10:102509518
GRCh38:
Chr10:100749761
PAX2V51fs, V20fsnot providednot providedno assertion provided
43.
GRCh37:
Chr10:102509527
GRCh38:
Chr10:100749770
PAX2L23fs, L54fsnot providednot providedno assertion provided
44.
GRCh37:
Chr10:102509528
GRCh38:
Chr10:100749771
PAX2V26fs, V57fsnot providedPathogenic
(Jan 1, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr10:102509528-102509529
GRCh38:
Chr10:100749771-100749772
PAX2V26fs, V57fsPAX2-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
46.
GRCh37:
Chr10:102509528-102509529
GRCh38:
Chr10:100749771-100749772
PAX2V26fs, V57fsRenal coloboma syndromePathogenic
(Mar 1, 2012)
no assertion criteria provided
47.
GRCh37:
Chr10:102509529
GRCh38:
Chr10:100749772
PAX2G55R, G24RRenal coloboma syndrome, Focal segmental glomerulosclerosis 7Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr10:102509529
GRCh38:
Chr10:100749772
PAX2G24W, G55WRenal coloboma syndromeLikely pathogenic
(Feb 1, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr10:102509529
GRCh38:
Chr10:100749772
PAX2G24R, G55RFocal segmental glomerulosclerosis 7, Renal coloboma syndromeUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr10:102509529
GRCh38:
Chr10:100749772
PAX2V26fs, V57fsPAX2-related disorder, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome,
Renal coloboma syndrome
Pathogenic
(Sep 13, 2023)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr10:102509530
GRCh38:
Chr10:100749773
PAX2G55E, G24EInborn genetic diseasesUncertain significance
(Jul 24, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr10:102509530
GRCh38:
Chr10:100749773
PAX2G24A, G55APAX2-related condition, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
Conflicting interpretations of pathogenicity
(Sep 21, 2023)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr10:102509531
GRCh38:
Chr10:100749774
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Oct 27, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr10:102509534
GRCh38:
Chr10:100749777
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely benign
(Jun 20, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr10:102509535
GRCh38:
Chr10:100749778
PAX2V26M, V57MRenal coloboma syndrome, Focal segmental glomerulosclerosis 7Uncertain significance
(Apr 23, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr10:102509535
GRCh38:
Chr10:100749778
PAX2V26L, V57LFocal segmental glomerulosclerosis 7, Renal coloboma syndromeUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:102509535
GRCh38:
Chr10:100749778
PAX2V26L, V57LFocal segmental glomerulosclerosis 7, Renal coloboma syndromeUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:102509551
GRCh38:
Chr10:100749794
PAX2R62Q, R31QRenal coloboma syndrome, Focal segmental glomerulosclerosis 7Uncertain significance
(Aug 8, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr10:102509553
GRCh38:
Chr10:100749796
PAX2L33fs, L64fsFocal segmental glomerulosclerosis 7, Renal coloboma syndromePathogenic
(Sep 28, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:102509555
GRCh38:
Chr10:100749798
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely benign
(Oct 25, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:102509561
GRCh38:
Chr10:100749804
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Oct 17, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:102509562
GRCh38:
Chr10:100749805
PAX2D66H, D35HFocal segmental glomerulosclerosis 7, Renal coloboma syndromeUncertain significance
(Sep 12, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr10:102509562
GRCh38:
Chr10:100749805
PAX2D66N, D35NRenal coloboma syndrome, Focal segmental glomerulosclerosis 7Uncertain significance
(Sep 22, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr10:102509572
GRCh38:
Chr10:100749815
PAX2R38K, R69Knot providedLikely pathogenic
(Sep 16, 2018)
no assertion criteria provided
65.
GRCh37:
Chr10:102509574
GRCh38:
Chr10:100749817
PAX2Q39*, Q70*PAX2-related conditionLikely pathogenic
(Mar 6, 2023)
criteria provided, single submitter
66.
GRCh37:
Chr10:102509574
GRCh38:
Chr10:100749817
PAX2Q39fs, Q70fsFocal segmental glomerulosclerosis 7, Renal coloboma syndromePathogenic
(Aug 13, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr10:102509574-102509579
GRCh38:
Chr10:100749817-100749822
PAX2not providednot providedno assertion provided
68.
GRCh37:
Chr10:102509576
GRCh38:
Chr10:100749819
PAX2Q39H, Q70HFocal segmental glomerulosclerosis 7, Renal coloboma syndromeUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr10:102509576-102509577
GRCh38:
Chr10:100749819-100749820
PAX2R40fs, R71fsnot providedPathogenic
(Oct 19, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr10:102509579
GRCh38:
Chr10:100749822
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Uncertain significance
(Nov 4, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr10:102509582
GRCh38:
Chr10:100749825
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely benign
(Oct 14, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr10:102509584
GRCh38:
Chr10:100749827
PAX2V42A, V73ARenal coloboma syndromeUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
73.
GRCh37:
Chr10:102509588
GRCh38:
Chr10:100749831
PAX2not providedLikely benign
(Oct 16, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr10:102509589-102509610
GRCh38:
Chr10:100749832-100749853
PAX2L75fs, L44fsRenal coloboma syndromePathogenic
(Mar 1, 2012)
no assertion criteria provided
75.
GRCh37:
Chr10:102509607
GRCh38:
Chr10:100749850
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Jun 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr10:102509607
GRCh38:
Chr10:100749850
PAX2R81W, R50WRenal coloboma syndromeLikely pathogeniccriteria provided, single submitter
77.
GRCh37:
Chr10:102509618
GRCh38:
Chr10:100749861
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely benign
(Aug 4, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr10:102509624
GRCh38:
Chr10:100749867
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeUncertain significance
(Nov 23, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr10:102509626
GRCh38:
Chr10:100749869
PAX2R56Q, R87QFocal segmental glomerulosclerosis 7Pathogenic
(Sep 1, 2014)
no assertion criteria provided
80.
GRCh37:
Chr10:102509633
GRCh38:
Chr10:100749876
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Aug 27, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr10:102509634
GRCh38:
Chr10:100749877
PAX2R59W, R90WFocal segmental glomerulosclerosis 7Uncertain significance
(Jan 3, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:102509641
GRCh38:
Chr10:100749884
PAX2S61I, S92IPAX2-related conditionLikely pathogenic
(Jul 11, 2023)
criteria provided, single submitter
83.
GRCh37:
Chr10:102509641
GRCh38:
Chr10:100749884
PAX2S92N, S61NFocal segmental glomerulosclerosis 7, Renal coloboma syndromeUncertain significance
(Jul 13, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr10:102509645
GRCh38:
Chr10:100749888
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Aug 23, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:102509646
GRCh38:
Chr10:100749889
PAX2G63S, G94Snot providedPathogenic
(Oct 19, 2015)
criteria provided, single submitter
86.
GRCh37:
Chr10:102509647
GRCh38:
Chr10:100749890
PAX2G63D, G94DRenal coloboma syndromeUncertain significancecriteria provided, single submitter
87.
GRCh37:
Chr10:102509653
GRCh38:
Chr10:100749896
PAX2V65A, V96ARenal coloboma syndrome, Focal segmental glomerulosclerosis 7Uncertain significance
(Oct 7, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:102509657
GRCh38:
Chr10:100749900
PAX2S97R, S66RRenal coloboma syndrome, Focal segmental glomerulosclerosis 7Uncertain significance
(Jul 11, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr10:102509662
GRCh38:
Chr10:100749905
PAX2I68N, I99NPAX2-related conditionUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:102509670
GRCh38:
Chr10:100749913
PAX2R102G, R71GRenal coloboma syndromeUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr10:102509671
GRCh38:
Chr10:100749914
PAX2R71T, R102TPapillorenal syndrome with macular abnormalitiesPathogenic
(Mar 1, 2012)
no assertion criteria provided
92.
GRCh37:
Chr10:102509672
GRCh38:
Chr10:100749915
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely pathogenic
(Jul 12, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr10:102509678
GRCh38:
Chr10:100749921
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Aug 31, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr10:102509683
GRCh38:
Chr10:100749926
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Benign/Likely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:102509689
GRCh38:
Chr10:100749932
PAX2Focal segmental glomerulosclerosis 7, Renal coloboma syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr10:102509971
GRCh38:
Chr10:100750214
PAX2not providedBenign
(Jan 25, 2019)
criteria provided, single submitter
97.
GRCh37:
Chr10:102510294
GRCh38:
Chr10:100750537
PAX2not providedBenign
(Jan 25, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr10:102510431
GRCh38:
Chr10:100750674
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7, not specified
Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:102510434
GRCh38:
Chr10:100750677
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(May 1, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr10:102510435
GRCh38:
Chr10:100750678
PAX2Renal coloboma syndrome, Focal segmental glomerulosclerosis 7Likely benign
(Feb 8, 2022)
criteria provided, single submitter
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