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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:7635254-88005418
GRCh38:
Chr2:7495123-87705899
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EPCAM-DT, ERLEC1, ETAA1, EVA1A, EVA1A-AS, EXOC6B, FAM136A, FAM161A, FAM228A, FAM228B, FAM98A, FANCL, FBXO11, FBXO41, FBXO48, FEZ2, FIGLA, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, FOXN2, FSHR, GACAT3, GALM, GALNT14, GAREM2, GCFC2, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GKN1, GKN2, GMCL1, GNLY, GPATCH11, GPN1, GPR75, GPR75-ASB3, GREB1, GRHL1, GTF2A1L, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HCNR606, HCNR617, HEATR5B, HHC2:065915, HHC2:065944, HHC2:066104, HHC2:066522, HHC2:066588, HHC2:066628, HHC2:066644, HHC2:066650, HHC2:066659, HHC2:066683, HHC2:067347, HK2, HK2-DT, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, HTRA2, IAH1, ID2, ID2-AS1, IFT172, IMMT, INO80B, INO80B-WBP1, ITGB1BP1, ITSN2, KCMF1, KCNF1, KCNG3, KCNK12, KCNK3, KCNS3, KDM3A, KHK, KIDINS220, KIF3C, KLF11, KLF11-DT, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LBX2, LBX2-AS1, LCLAT1, LDAH, LGALSL, LHCGR, LINC00276, LINC00298, LINC00299, LINC00309, LINC00486, LINC00570, LINC00954, LINC01118, LINC01119, LINC01121, LINC01122, LINC01126, LINC01143, LINC01291, LINC01293, LINC01317, LINC01318, LINC01320, LINC01376, LINC01381, LINC01460, LINC01628, LINC01793, LINC01794, LINC01795, LINC01797, LINC01798, LINC01799, LINC01800, LINC01804, LINC01805, LINC01808, LINC01809, LINC01812, LINC01813, LINC01814, LINC01815, LINC01816, LINC01819, LINC01820, LINC01822, LINC01828, LINC01829, LINC01830, LINC01833, LINC01851, LINC01867, LINC01871, LINC01873, LINC01883, LINC01884, LINC01888, LINC01890, LINC01913, LINC01914, LINC01936, LINC01943, LINC01946, LINC01954, LINC01964, LINC02245, LINC02576, LINC02579, LINC02580, LINC02583, LINC02613, LINC02831, LINC02850, LINC02898, LINC02923, LINC02934, LINC03050, LINC03063, LOC100129434, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506235, LOC100506405, LOC100506474, LOC100507006, LOC100507562, LOC101927661, LOC101927723, LOC101927948, LOC101927967, LOC101928196, LOC101929551, LOC101929752, LOC102723530, LOC102724542, LOC102724579, LOC105369165, LOC105373414, LOC105373418, LOC105373438, LOC105373461, LOC105374378, LOC105374389, LOC105374769, LOC105374780, LOC105374809, LOC105374811, LOC105374820, LOC106560211, LOC106699567, LOC106728414, LOC106783498, LOC106783504, LOC107457596, LOC107984043, LOC129934069, LOC129934070, LOC129934071, LOC129934072, LOC129934073, LOC129934074, LOC129934075, LOC129934076, LOC129934077, LOC129934078, LOC129934079, LOC129934080, LOC129934081, LOC129934082, LOC129934083, LOC129934084, LOC129934085, LOC129934086, LOC129934087, LOC129934088, LOC129934089, LOC129934090, LOC129934091, LOC129934092, LOC129934093, LOC129934094, LOC129934095, LOC129934096, LOC129934097, LOC129934098, LOC129934099, LOC129934100, LOC129934101, LOC129934102, LOC129934103, LOC129934104, LOC129934105, LOC129934106, LOC129934107, LOC129934108, LOC129934109, LOC129934110, LOC129934111, LOC129934112, LOC129934113, LOC129934114, LOC129934115, LOC129934116, LOC129934117, LOC129934118, LOC129934119, LOC129934120, LOC129934121, LOC129934122, LOC129934123, LOC129934124, LOC129934125, LOC129934126, LOC129934127, LOC129934128, LOC129934129, LOC129934130, LOC129934131, LOC129934132, LOC129934133, LOC129934134, LOC129934135, LOC129934136, LOC129934137, LOC129934138, LOC129934139, LOC129934140, LOC129934141, LOC129934142, LOC129934143, LOC129934144, LOC129934145, LOC129934146, LOC129934147, LOC129934148, LOC129934149, LOC129934150, LOC129934151, LOC129934152, LOC129934153, LOC129934154, LOC129934155, LOC129934156, LOC129934157, LOC129934158, LOC129934159, LOC129934160, LOC129934161, LOC129934162, LOC129934163, LOC129934164, LOC129934165, LOC129934166, LOC129934167, LOC129934168, LOC129934169, LOC129934170, LOC129934171, LOC129934172, LOC129934173, LOC129934174, LOC129934175, LOC129934176, LOC129934177, LOC129934178, LOC129934179, LOC129934180, LOC129934181, LOC129934182, LOC129934183, LOC129934184, LOC129934185, LOC129934186, LOC129934187, LOC129934188, LOC129934189, LOC129934190, LOC129934191, LOC129934192, LOC129934193, LOC129934194, LOC129934195, LOC129934196, LOC129934197, LOC129934198, LOC129934199, LOC129934200, LOC129934201, LOC129934202, LOC129934203, LOC129934204, LOC129934205, LOC129934206, LOC129934207, LOC129934208, LOC129934209, LOC129934210, LOC129934211, LOC129934212, LOC129934213, LOC129934214, LOC129934215, LOC129934216, LOC129934217, LOC129934218, LOC129934219, LOC129934220, LOC129934221, LOC129934222, LOC129934223, LOC129934224, LOC129934225, LOC129934226, LOC129934227, LOC129934228, LOC129934229, LOC129934230, LOC129934231, LOC129934232, LOC129934233, LOC129934234, LOC129934235, LOC129934236, LOC129934237, LOC129934238, LOC129934239, LOC129934240, LOC129934241, LOC129934242, LOC129934243, LOC129934244, LOC129934245, LOC129934246, LOC129934247, LOC129934248, LOC129934249, LOC129934250, LOC129934251, LOC129934252, LOC129934253, LOC129934254, LOC129934255, LOC129934256, LOC129934257, LOC129934258, LOC129934259, LOC129934260, LOC129934261, LOC129934262, LOC129934263, LOC129934264, LOC129934265, LOC129934266, LOC129934267, LOC132088754, LOC132088755, LOC132088756, LOC132088757, LOC132088838, LOC132088840, LOC132088845, LOC132088847, LOC132088848, LOC132088850, LOC132088851, LOC132088852, LOC132088853, LOC132088854, LOC132088855, LOC132088856, LOC132090678, LOC132090679, LOC284950, LOC375196, LOC653602, LOXL3, LPIN1, LRATD1, LRPPRC, LRRTM1, LRRTM4, LRRTM4-AS1, LTBP1, M1AP, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MAT2A, MATN3, MBOAT2, MCEE, MCFD2, MDH1, MEIS1, MEIS1-AS2, MEIS1-AS3, MEMO1, MFSD2B, MIR1285-2, MIR1301, MIR216A, MIR216B, MIR217, MIR217HG, MIR3125, MIR3126, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4264, MIR4429, MIR4430, MIR4431, MIR4432, MIR4432HG, MIR4433A, MIR4433B, MIR4434, MIR4435-1, MIR4757, MIR4765, MIR4771-1, MIR4778, MIR4779, MIR5000, MIR5192, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR6071, MIR8080, MIR8485, MOB1A, MOGS, MORN2, MPHOSPH10, MPV17, MRPL19, MRPL33, MRPL35, MRPL53, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTHFD2, MTIF2, MXD1, MYCN, MYCNOS, MYCNUT, NAGK, NAT8, NAT8B, NBAS, NCAL1, NCOA1, NDUFAF7, NFU1, NLRC4, NOL10, NOTO, NRBP1, NRXN1, NRXN1-DT, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OTX1, OXER1, PAIP2B, PAPOLG, PARTICL, PCARE, PCBP1, PCBP1-AS1, PCGF1, PCYOX1, PDIA6, PELI1, PEX13, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, PPM1B, PPM1B-DT, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PPP4R3B-DT, PRADC1, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PROKR1, PRR30, PSME4, PTCD3, PTRHD1, PUM2, PUS10, QPCT, RAB10, RAB11FIP5, RAB1A, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, REL-DT, RETSAT, RGPD1, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RMND5A, RNF103, RNF103-CHMP3, RNF181, ROCK2, RPS27A, RRM2, RTKN, RTN4, SANBR, SDC1, SELENOI, SEMA4F, SERTAD2, SF3B6, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SIX3-AS1, SLC1A4, SLC30A3, SLC30A6, SLC30A6-DT, SLC35F6, SLC3A1, SLC4A1AP, SLC4A5, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMANTIS, SMC6, SMYD5, SNAR-H, SNORA10B, SNORA36C, SNORA70B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNORD94, SNRNP27, SNRPG, SNX17, SOCS5, SOS1, SOS1-IT1, SPAST, SPATA31H1, SPDYA, SPR, SPRED2, SPTBN1, SPTBN1-AS1, SPTBN1-AS2, SRBD1, SRD5A2, SRSF7, ST3GAL5, ST3GAL5-AS1, STAMBP, STON1, STON1-GTF2A1L, STPG4, STRN, SUCLG1, SULT6B1, SUPT7L, TACR1, TAF1B, TCF23, TCF7L1, TCF7L1-IT1, TDRD15, TET3, TEX261, TGFA, TGFA-IT1, TGOLN2, THADA, THUMPD2, TIA1, TLX2, TMEM150A, TMEM17, TMEM178A, TMEM214, TMEM247, TMSB10, TOGARAM2, TP53I3, TPRKB, TRA-AGC8-1, TRABD2A, TRG-CCC2-1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC31, TTC32, TTC7A, UBXN2A, UCN, UGP2, USP34, USP34-DT, USP39, VAMP5, VAMP8, VAX2, VIT, VPS54, VRK2, VSNL1, WBP1, WDCP, WDPCP, WDR35, WDR35-DT, WDR43, WDR54, XDH, XPO1, LOC129933557, LOC129933558, LOC129933559, LOC129933560, LOC129933561, LOC129933562, LOC129933563, LOC129933564, LOC129933565, LOC129933566, LOC129933567, LOC129933568, LOC129933569, LOC129933570, LOC129933571, LOC129933572, LOC129933573, LOC129933574, LOC129933575, LOC129933576, LOC129933577, LOC129933578, LOC129933579, LOC129933580, LOC129933581, LOC129933582, LOC129933583, LOC129933584, LOC129933585, LOC129933586, LOC129933587, LOC129933588, LOC129933589, LOC129933590, LOC129933591, LOC129933592, LOC129933593, LOC129933594, LOC129933595, LOC129933596, LOC129933597, LOC129933598, LOC129933599, LOC129933600, LOC129933601, LOC129933602, LOC129933603, LOC129933604, LOC129933605, LOC129933606, LOC129933607, LOC129933608, LOC129933609, LOC129933610, LOC129933611, LOC129933612, LOC129933613, LOC129933614, LOC129933615, LOC129933616, LOC129933617, LOC129933618, LOC129933619, LOC129933620, LOC129933621, LOC129933622, LOC129933623, LOC129933624, LOC129933625, LOC129933626, LOC129933627, LOC129933628, LOC129933629, LOC129933630, LOC129933631, LOC129933632, LOC129933633, LOC129933634, LOC129933635, LOC129933636, LOC129933637, LOC129933638, LOC129933639, LOC129933640, LOC129933641, LOC129933642, LOC129933643, LOC129933644, LOC129933645, LOC129933646, LOC129933647, LOC129933648, LOC129933649, LOC129933650, LOC129933651, LOC129933652, LOC129933653, LOC129933654, LOC129933655, LOC129933656, LOC129933657, LOC129933658, LOC129933659, LOC129933660, LOC129933661, LOC129933662, LOC129933663, LOC129933664, LOC129933665, LOC129933666, LOC129933667, LOC129933668, LOC129933669, LOC129933670, LOC129933671, LOC129933672, LOC129933673, LOC129933674, LOC129933675, LOC129933676, LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, LOC129933728, LOC129933729, LOC129933730, LOC129933731, LOC129933732, LOC129933733, LOC129933734, LOC129933735, LOC129933736, LOC129933737, LOC129933738, LOC129933739, LOC129933740, LOC129933741, LOC129933742, LOC129933743, LOC129933744, LOC129933745, LOC129933746, LOC129933747, LOC129933748, LOC129933749, LOC129933750, LOC129933751, LOC129933752, LOC129933753, LOC129933754, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC129933768, LOC129933769, LOC129933770, LOC129933771, LOC129933772, LOC129933773, LOC129933774, LOC129933775, LOC129933776, LOC129933777, LOC129933778, LOC129933779, LOC129933780, LOC129933781, LOC129933782, LOC129933783, LOC129933784, LOC129933785, LOC129933786, LOC129933787, LOC129933788, LOC129933789, LOC129933790, LOC129933791, LOC129933792, LOC129933793, LOC129933794, LOC129933795, LOC129933796, LOC129933797, LOC129933798, LOC129933799, LOC129933800, LOC129933801, LOC129933802, LOC129933803, LOC129933804, LOC129933805, LOC129933806, LOC129933807, LOC129933808, LOC129933809, LOC129933810, LOC129933811, LOC129933812, LOC129933813, LOC129933814, LOC129933815, LOC129933816, LOC129933817, LOC129933818, LOC129933819, LOC129933820, LOC129933821, LOC129933822, LOC129933823, LOC129933824, LOC129933825, LOC129933826, LOC129933827, LOC129933828, LOC129933829, LOC129933830, LOC129933831, LOC129933832, LOC129933833, LOC129933834, LOC129933835, LOC129933836, LOC129933837, LOC129933838, LOC129933839, LOC129933840, LOC129933841, LOC129933842, LOC129933843, LOC129933844, LOC129933845, LOC129933846, LOC129933847, LOC129933848, LOC129933849, LOC129933850, LOC129933851, LOC129933852, LOC129933853, LOC129933854, LOC129933855, LOC129933856, LOC129933857, LOC129933858, LOC129933859, LOC129933860, LOC129933861, LOC129933862, LOC129933863, LOC129933864, LOC129933865, LOC129933866, LOC129933867, LOC129933868, LOC129933869, LOC129933870, LOC129933871, LOC129933872, LOC129933873, LOC129933874, LOC129933875, LOC129933876, LOC129933877, LOC129933878, LOC129933879, LOC129933880, LOC129933881, LOC129933882, LOC129933883, LOC129933884, LOC129933885, LOC129933886, LOC129933887, LOC129933888, LOC129933889, LOC129933890, LOC129933891, LOC129933892, LOC129933893, LOC129933894, LOC129933895, LOC129933896, LOC129933897, LOC129933898, LOC129933899, LOC129933900, LOC129933901, LOC129933902, LOC129933903, LOC129933904, LOC129933905, LOC129933906, LOC129933907, LOC129933908, LOC129933909, LOC129933910, LOC129933911, LOC129933912, LOC129933913, LOC129933914, LOC129933915, LOC129933916, LOC129933917, LOC129933918, LOC129933919, LOC129933920, LOC129933921, LOC129933922, LOC129933923, LOC129933924, LOC129933925, LOC129933926, LOC129933927, LOC129933928, LOC129933929, LOC129933930, LOC129933931, LOC129933932, LOC129933933, LOC129933934, LOC129933935, LOC129933936, LOC129933937, LOC129933938, LOC129933939, LOC129933940, LOC129933941, LOC129933942, LOC129933943, LOC129933944, LOC129933945, LOC129933946, LOC129933947, LOC129933948, LOC129933949, LOC129933950, LOC129933951, LOC129933952, LOC129933953, LOC129933954, LOC129933955, LOC129933956, LOC129933957, LOC129933958, LOC129933959, LOC129933960, LOC129933961, LOC129933962, LOC129933963, LOC129933964, LOC129933965, LOC129933966, LOC129933967, LOC129933968, LOC129933969, LOC129933970, LOC129933971, LOC129933972, LOC129933973, LOC129933974, LOC129933975, LOC129933976, LOC129933977, LOC129933978, LOC129933979, LOC129933980, LOC129933981, LOC129933982, LOC129933983, LOC129933984, LOC129933985, LOC129933986, LOC129933987, LOC129933988, LOC129933989, LOC129933990, LOC129933991, LOC129933992, LOC129933993, LOC129933994, LOC129933995, LOC129933996, LOC129933997, LOC129933998, LOC129933999, LOC129934000, LOC129934001, LOC129934002, LOC129934003, LOC129934004, LOC129934005, LOC129934006, LOC129934007, LOC129934008, LOC129934009, LOC129934010, LOC129934011, LOC129934012, LOC129934013, LOC129934014, LOC129934015, LOC129934016, LOC129934017, LOC129934018, LOC129934019, LOC129934020, LOC129934021, LOC129934022, LOC129934023, LOC129934024, LOC129934025, LOC129934026, LOC129934027, LOC129934028, LOC129934029, LOC129934030, LOC129934031, LOC129934032, LOC129934033, LOC129934034, LOC129934035, LOC129934036, LOC129934037, LOC129934038, LOC129934039, LOC129934040, LOC129934041, LOC129934042, LOC129934043, LOC129934044, LOC129934045, LOC129934046, LOC129934047, LOC129934048, LOC129934049, LOC129934050, LOC129934051, LOC129934052, LOC129934053, LOC129934054, LOC129934055, LOC129934056, LOC129934057, LOC129934058, LOC129934059, LOC129934060, LOC129934061, LOC129934062, LOC129934063, LOC129934064, LOC129934065, LOC129934066, LOC129934067, LOC129934068
See casesBenign
(Feb 4, 2013)
no assertion criteria provided
2.
GRCh37:
Chr2:40965422-58090956
GRCh38:
Chr2:40738282-57863821
ABCG5, ABCG8, ACYP2, ASB3, ATP6V1E2, BCYRN1, C1GALT1C1L, C2orf73, CALM2, CAMKMT, CCDC85A, CCDC88A, CFAP36, CHAC2, CLHC1, COX7A2L, CRIPT, DYNC2LI1, EFEMP1, EML4, EML4-AS1, EML6, EML6-AS1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, FBXO11, FOXN2, FSHR, GPR75, GPR75-ASB3, GTF2A1L, HAAO, KCNG3, KCNK12, LHCGR, LINC01118, LINC01119, LINC01121, LINC01126, LINC01794, LINC01813, LINC01819, LINC01820, LINC01833, LINC01867, LINC01913, LINC01914, LINC02580, LINC02583, LINC02898, LOC100129434, LOC100506235, LOC105369165, LOC110120598, LOC110120696, LOC110121071, LOC110121222, LOC110121235, LOC111465020, LOC111776219, LOC111776220, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC114004372, LOC114827832, LOC114827839, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC121725089, LOC121725090, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC122757946, LOC122757947, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC126806222, LOC126806223, LOC129388852, LOC129388853, LOC129388854, LOC129388855, LOC129388856, LOC129388857, LOC129388858, LOC129388859, LOC129388860, LOC129388861, LOC129388862, LOC129388863, LOC129933547, LOC129933548, LOC129933549, LOC129933550, LOC129933551, LOC129933552, LOC129933553, LOC129933554, LOC129933555, LOC129933556, LOC129933557, LOC129933558, LOC129933559, LOC129933560, LOC129933561, LOC129933562, LOC129933563, LOC129933564, LOC129933565, LOC129933566, LOC129933567, LOC129933568, LOC129933569, LOC129933570, LOC129933571, LOC129933572, LOC129933573, LOC129933574, LOC129933575, LOC129933576, LOC129933577, LOC129933578, LOC129933579, LOC129933580, LOC129933581, LOC129933582, LOC129933583, LOC129933584, LOC129933585, LOC129933586, LOC129933587, LOC129933588, LOC129933589, LOC129933590, LOC129933591, LOC129933592, LOC129933593, LOC129933594, LOC129933595, LOC129933596, LOC129933597, LOC129933598, LOC129933599, LOC129933600, LOC129933601, LOC129933602, LOC129933603, LOC129933604, LOC129933605, LOC129933606, LOC129933607, LOC129933608, LOC129933609, LOC129933610, LOC129933611, LOC129933612, LOC129933613, LOC129933614, LOC129933615, LOC129933616, LOC129933617, LOC129933618, LOC129933619, LOC129933620, LOC129933621, LOC129933622, LOC129933623, LOC129933624, LOC129933625, LOC129933626, LOC129933627, LOC129933628, LOC129933629, LOC129933630, LOC129933631, LOC129933632, LOC129933633, LOC129933634, LOC129933635, LOC129933636, LOC129933637, LOC129933638, LOC129933639, LOC129933640, LOC129933641, LOC129933642, LOC129933643, LOC129933644, LOC129933645, LOC129933646, LOC129933647, LOC129933648, LOC129933649, LOC129933650, LOC129933651, LOC129933652, LOC129933653, LOC129933654, LOC129933655, LOC129933656, LOC129933657, LOC129933658, LOC129933659, LOC129933660, LOC129933661, LOC129933662, LOC129933663, LOC129933664, LOC129933665, LOC129933666, LOC129933667, LOC129933668, LOC129933669, LOC129933670, LOC129933671, LOC129933672, LOC129933673, LOC129933674, LOC129933675, LOC129933676, LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, LOC129933728, LOC129933729, LOC129933730, LOC129933731, LOC129933732, LOC129933733, LOC129933734, LOC129933735, LOC129933736, LOC129933737, LOC129933738, LOC129933739, LOC129933740, LOC129933741, LOC129933742, LOC129933743, LOC129933744, LOC129933745, LOC129933746, LOC129933747, LOC129933748, LOC129933749, LOC129933750, LOC129933751, LOC129933752, LOC129933753, LOC129933754, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC129933768, LOC129933769, LOC129933770, LOC129933771, LOC129933772, LOC129933773, LOC129933774, LOC129933775, LOC129933776, LOC132088845, LOC132088847, LOC132090678, LRPPRC, MCFD2, MIR216A, MIR216B, MIR217, MIR217HG, MIR3682, MIR4431, MIR548BA, MIR559, MIR8485, MSH2, MSH2-OT1, MSH6, MTA3, MTIF2, NRXN1, NRXN1-DT, OXER1, PIGF, PKDCC, PLEKHH2, PNPT1, PPM1B, PPM1B-DT, PPP1R21, PPP4R3B, PPP4R3B-DT, PREPL, PRKCE, PRKCE-AS1, PSME4, RHOQ, RHOQ-AS1, RPS27A, RTN4, SIX2, SIX3, SIX3-AS1, SLC3A1, SOCS5, SPTBN1, SPTBN1-AS1, SPTBN1-AS2, SRBD1, STON1, STON1-GTF2A1L, STPG4, THADA, TMEM247, TRI-TAT2-1, TSPYL6, TTC7A, ZFP36L2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr2:55653723-56299784
GRCh38:
Chr2:55426587-56072649
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr2:55797714-60746979
GRCh38:
Chr2:55570578-60519844
See casesPathogenic
(Feb 16, 2018)
no assertion criteria provided
5.
GRCh37:
Chr2:55863067-55863070
GRCh38:
Chr2:55635932-55635935
PNPT1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr2:55863111-55863112
GRCh38:
Chr2:55635976-55635977
PNPT1not providedBenign
(Jun 26, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr2:55863213
GRCh38:
Chr2:55636078
PNPT1not providedLikely benign
(Jul 8, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr2:55863301
GRCh38:
Chr2:55636166
PNPT1not providedBenign
(Jul 27, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr2:55863360-55863361
GRCh38:
Chr2:55636225-55636226
PNPT1Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, not specified
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:55863375
GRCh38:
Chr2:55636240
PNPT1not providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:55863376
GRCh38:
Chr2:55636241
PNPT1Q783fsnot providedUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:55863379
GRCh38:
Chr2:55636244
PNPT1S782Cnot providedUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:55863388
GRCh38:
Chr2:55636253
PNPT1S779Lnot providedUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:55863389
GRCh38:
Chr2:55636254
PNPT1S779Pnot providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr2:55863397-55863398
GRCh38:
Chr2:55636262-55636263
PNPT1S776fsnot providedUncertain significance
(Mar 6, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:55863403
GRCh38:
Chr2:55636268
PNPT1P774Lnot providedUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr2:55863421
GRCh38:
Chr2:55636286
PNPT1S768Inot providedUncertain significance
(Oct 25, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr2:55863424-55863426
GRCh38:
Chr2:55636289-55636291
PNPT1R766delnot providedUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr2:55863431
GRCh38:
Chr2:55636296
PNPT1D765NInborn genetic diseases, not providedUncertain significance
(Jan 26, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:55863433
GRCh38:
Chr2:55636298
PNPT1N764Snot providedUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr2:55863446
GRCh38:
Chr2:55636311
PNPT1V760Lnot providedUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:55863449
GRCh38:
Chr2:55636314
PNPT1V759Lnot providedUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:55863449
GRCh38:
Chr2:55636314
PNPT1V759Mnot providedUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr2:55863450
GRCh38:
Chr2:55636315
PNPT1not providedLikely benign
(Dec 13, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr2:55863450
GRCh38:
Chr2:55636315
PNPT1not providedLikely benign
(Sep 29, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr2:55863452
GRCh38:
Chr2:55636317
PNPT1T758Pnot providedUncertain significance
(May 17, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr2:55863453
GRCh38:
Chr2:55636318
PNPT1not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr2:55863463
GRCh38:
Chr2:55636328
PNPT1S754Lnot providedUncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:55863465
GRCh38:
Chr2:55636330
PNPT1Q753Hnot providedUncertain significance
(Apr 25, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr2:55863471
GRCh38:
Chr2:55636336
PNPT1not providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr2:55863479
GRCh38:
Chr2:55636344
PNPT1not providedLikely benign
(Apr 28, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:55863490
GRCh38:
Chr2:55636355
PNPT1not providedUncertain significance
(Jun 1, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr2:55863493
GRCh38:
Chr2:55636358
PNPT1R744Knot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr2:55863500
GRCh38:
Chr2:55636365
PNPT1D742Nnot providedUncertain significance
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:55863501
GRCh38:
Chr2:55636366
PNPT1not providedLikely benign
(Jul 29, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:55863511
GRCh38:
Chr2:55636376
PNPT1R738Hnot provided, Combined oxidative phosphorylation defect type 13Conflicting interpretations of pathogenicity
(Aug 10, 2022)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr2:55863512
GRCh38:
Chr2:55636377
PNPT1R738Cnot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr2:55863517
GRCh38:
Chr2:55636382
PNPT1F736Cnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr2:55863543-55863544
GRCh38:
Chr2:55636408-55636409
PNPT1not providedLikely benign
(Feb 3, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr2:55863545
GRCh38:
Chr2:55636410
PNPT1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:55863562
GRCh38:
Chr2:55636427
PNPT1not providedLikely benign
(Nov 9, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr2:55863589
GRCh38:
Chr2:55636454
PNPT1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr2:55864403
GRCh38:
Chr2:55637268
PNPT1not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr2:55864671
GRCh38:
Chr2:55637536
PNPT1not providedLikely benign
(Jun 3, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr2:55864675
GRCh38:
Chr2:55637540
PNPT1not providedLikely benign
(Dec 18, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr2:55864681
GRCh38:
Chr2:55637546
PNPT1not providedUncertain significance
(Jun 30, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr2:55864695
GRCh38:
Chr2:55637560
PNPT1E730Knot providedUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr2:55864702
GRCh38:
Chr2:55637567
PNPT1not providedLikely benign
(Aug 31, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr2:55864717
GRCh38:
Chr2:55637582
PNPT1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr2:55864733
GRCh38:
Chr2:55637598
PNPT1I717Tnot providedUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:55864738-55864739
GRCh38:
Chr2:55637603-55637604
PNPT1not provided, not specifiedBenign/Likely benign
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:55864739
GRCh38:
Chr2:55637604
PNPT1not providedBenign
(Jul 19, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr2:55864745
GRCh38:
Chr2:55637610
PNPT1not specified, not providedLikely benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:55864747-55864748
GRCh38:
Chr2:55637612-55637613
PNPT1not providedLikely benign
(Aug 26, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr2:55864748
GRCh38:
Chr2:55637613
PNPT1not providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr2:55864752
GRCh38:
Chr2:55637617
PNPT1not specified, not providedLikely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:55864753
GRCh38:
Chr2:55637618
PNPT1not provided, not specifiedLikely benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:55865038
GRCh38:
Chr2:55637903
PNPT1not providedBenign
(Jul 27, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr2:55867742
GRCh38:
Chr2:55640607
PNPT1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:55867742
GRCh38:
Chr2:55640607
PNPT1not providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr2:55867743
GRCh38:
Chr2:55640608
PNPT1not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr2:55867746
GRCh38:
Chr2:55640611
PNPT1not providedUncertain significance
(Nov 21, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr2:55867754
GRCh38:
Chr2:55640619
PNPT1not specified, not providedConflicting interpretations of pathogenicity
(Jan 19, 2023)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr2:55867756
GRCh38:
Chr2:55640621
PNPT1not providedUncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:55867763
GRCh38:
Chr2:55640628
PNPT1K716RAutosomal recessive nonsyndromic hearing loss 70, not providedUncertain significance
(Jan 20, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:55867766
GRCh38:
Chr2:55640631
PNPT1R715QInborn genetic diseases, not providedUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:55867773
GRCh38:
Chr2:55640638
PNPT1D713YCombined oxidative phosphorylation defect type 13Pathogenic
(Jan 23, 2019)
no assertion criteria provided
68.
GRCh37:
Chr2:55867781
GRCh38:
Chr2:55640646
PNPT1T710Inot providedUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr2:55867798
GRCh38:
Chr2:55640663
PNPT1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr2:55867804
GRCh38:
Chr2:55640669
PNPT1M702IAutosomal recessive nonsyndromic hearing loss 70Uncertain significance
(Jan 8, 2023)
criteria provided, single submitter
71.
GRCh37:
Chr2:55867805
GRCh38:
Chr2:55640670
PNPT1M702Tnot providedUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr2:55867835
GRCh38:
Chr2:55640700
PNPT1T692Inot providedUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr2:55867838
GRCh38:
Chr2:55640703
PNPT1D691Anot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr2:55867845
GRCh38:
Chr2:55640710
PNPT1not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr2:55867845
GRCh38:
Chr2:55640710
PNPT1not specified, not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:55867852
GRCh38:
Chr2:55640717
PNPT1not providedLikely benign
(Jun 28, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr2:55867856
GRCh38:
Chr2:55640721
PNPT1not provided, not specifiedLikely benign
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr2:55867857-55867860
GRCh38:
Chr2:55640722-55640725
PNPT1not providedLikely benign
(Oct 13, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr2:55867938
GRCh38:
Chr2:55640803
PNPT1not providedBenign
(Jun 21, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr2:55870274
GRCh38:
Chr2:55643139
PNPT1not providedLikely benign
(Jul 18, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr2:55870290
GRCh38:
Chr2:55643155
PNPT1Spinocerebellar ataxia type 25Pathogenic
(Jul 11, 2022)
no assertion criteria provided
82.
GRCh37:
Chr2:55870295
GRCh38:
Chr2:55643160
PNPT1Autosomal recessive nonsyndromic hearing loss 70Uncertain significance
(Apr 10, 2023)
criteria provided, single submitter
83.
GRCh37:
Chr2:55870298
GRCh38:
Chr2:55643163
PNPT1E688Dnot providedUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:55870304
GRCh38:
Chr2:55643169
PNPT1not providedLikely benign
(May 23, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr2:55870313
GRCh38:
Chr2:55643178
PNPT1not providedLikely benign
(Aug 21, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr2:55870314
GRCh38:
Chr2:55643179
PNPT1T683IInborn genetic diseasesUncertain significance
(Mar 31, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr2:55870319
GRCh38:
Chr2:55643184
PNPT1not providedBenign/Likely benign
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr2:55870323
GRCh38:
Chr2:55643188
PNPT1A680Vnot providedUncertain significance
(Feb 8, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:55870348
GRCh38:
Chr2:55643213
PNPT1Q672*not providedPathogenic
(Mar 21, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr2:55870351
GRCh38:
Chr2:55643216
PNPT1Combined oxidative phosphorylation defect type 13Likely pathogenic
(Mar 31, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr2:55870365
GRCh38:
Chr2:55643230
PNPT1not providedLikely benign
(Sep 27, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr2:55870367
GRCh38:
Chr2:55643232
PNPT1not providedLikely benign
(Sep 9, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr2:55870442
GRCh38:
Chr2:55643307
PNPT1not providedLikely benign
(Sep 22, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr2:55870454
GRCh38:
Chr2:55643319
PNPT1not providedUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr2:55870455
GRCh38:
Chr2:55643320
PNPT1D671VCombined oxidative phosphorylation defect type 13Uncertain significance
(Jun 22, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr2:55870456
GRCh38:
Chr2:55643321
PNPT1D671Nnot providedUncertain significance
(May 29, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:55870458
GRCh38:
Chr2:55643323
PNPT1D670Gnot providedUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr2:55870478
GRCh38:
Chr2:55643343
PNPT1F663Lnot providedUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr2:55870485
GRCh38:
Chr2:55643350
PNPT1R661Knot providedUncertain significance
(Apr 28, 2023)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:55870493
GRCh38:
Chr2:55643358
PNPT1not providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
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