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Items: 1 to 100 of 372

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:105955289-155551397
GRCh38:
Chr5:106619588-156124387
ABLIM3, ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ADRB2, AFAP1L1, AFF4, AFF4-DT, ALDH7A1, ANKHD1, ANKHD1-DT, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARL14EPL, ARSI, ATG12, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CARMN, CATSPER3, CCDC112, CCDC192, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDO1, CDX1, CEP120, CHSY3, CLMAT3, CNOT8, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTB-1I21.1, CTB-99A3.1, CTNNA1, CTNNA1-AS1, CTXN3, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DMXL1, DMXL1-DT, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, EPIST, ETF1, FAM114A2, FAM13B, FAM13B-AS1, FAM170A, FAM53C, FAT2, FAXDC2, FBN2, FBXL17, FBXO38, FBXO38-DT, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GEMIN5, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRPEL2-AS1, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, ISOC1, JADE2, JAKMIP2, JAKMIP2-AS1, KCNN2, KCTD16, KDM3B, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LEAP2, LECT2, LINC00992, LINC01023, LINC01170, LINC01470, LINC01843, LINC01844, LINC01848, LINC01861, LINC01933, LINC01950, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINC02863, LINC02900, LINC02999, LINCADL, LMNB1, LMNB1-DT, LOC100128966, LOC100652758, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929719, LOC102467216, LOC102467217, LOC102467226, LOC105378230, LOC105379157, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108228201, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121070, LOC110121082, LOC110121084, LOC110121107, LOC110121118, LOC110121171, LOC110121173, LOC110121194, LOC110121202, LOC110121271, LOC110121303, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC112997570, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC116158526, LOC119407423, LOC120285837, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC121725217, LOC121740630, LOC121740631, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, MIR1289-2, MIR1294, MIR1303, MIR143, MIR145, MIR3141, MIR3655, MIR3661, MIR378A, MIR378H, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR5197, MIR548F3, MIR5692C1, MIR5706, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MRPL22, MYOT, MYOZ3, MYOZ3-AS1, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NREP, NREP-AS1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PITX1-AS1, PJA2, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPIC, PPP2CA, PPP2CA-DT, PPP2R2B, PPP2R2B-IT1, PRDM6, PRDM6-AS1, PRELID2, PROB1, PRR16, PRRC1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, REEP5, RELL2, RNF14, RPS14, SAP30L, SAP30L-AS1, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SEPTIN8, SGCD, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC25A48-AS1, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNCAIP, SNHG4, SNORA13, SNORA74A, SNORA74D, SNORD63, SNORD63B, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, SRFBP1, SRP19, STARD4, STARD4-AS1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TICAM2, TICAM2-AS1, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TRPC7-AS1, TRPC7-AS2, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, WSPAR, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF474-AS1, ZNF475, ZNF608, LOC129994703, LOC129994704, LOC129994705, LOC129994706, LOC129994707, LOC129994708, LOC129994709, LOC129994710, LOC129994711, LOC129994712, LOC129994713, LOC129994714, LOC129994715, LOC129994716, LOC129994717, LOC129994718, LOC129994719, LOC129994720, LOC129994721, LOC129994722, LOC129994723, LOC129994724, LOC129994725, LOC129994726, LOC129994727, LOC129994728, LOC129994729, LOC129994730, LOC129994731, LOC129994732, LOC129994733, LOC129994734, LOC129994735, LOC129994736, LOC129994737, LOC129994738, LOC129994739, LOC129994740, LOC129994741, LOC129994742, LOC129994743, LOC129994744, LOC129994745, LOC129994746, LOC129994747, LOC129994748, LOC129994749, LOC129994750, LOC129994751, LOC129994752, LOC129994753, LOC129994754, LOC129994755, LOC129994756, LOC129994757, LOC129994758, LOC129994759, LOC129994760, LOC129994761, LOC129994762, LOC129994763, LOC129994764, LOC129994765, LOC129994766, LOC129994767, LOC129994768, LOC129994769, LOC129994770, LOC129994771, LOC129994772, LOC129994773, LOC129994774, LOC129994775, LOC129994776, LOC129994777, LOC129994778, LOC129994779, LOC129994780, LOC129994781, LOC129994782, LOC129994783, LOC129994784, LOC129994785, LOC129994786, LOC129994787, LOC129994788, LOC129994789, LOC129994790, LOC129994791, LOC129994792, LOC129994793, LOC129994794, LOC129994795, LOC129994796, LOC129994797, LOC129994798, LOC129994799, LOC129994800, LOC129994801, LOC129994802, LOC129994803, LOC129994804, LOC129994805, LOC129994806, LOC129994807, LOC129994808, LOC129994809, LOC129994810, LOC129994811, LOC129994812, LOC129994813, LOC129994814, LOC129994815, LOC129994816, LOC129994817, LOC129994818, LOC129994819, LOC129994820, LOC129994821, LOC129994822, LOC129994823, LOC129994824, LOC129994825, LOC129994826, LOC129994827, LOC129994828, LOC129994829, LOC129994830, LOC129994831, LOC129994832, LOC129994833, LOC129994834, LOC129994835, LOC129994836, LOC129994837, LOC129994838, LOC129994839, LOC129994840, LOC129994841, LOC129994842, LOC129994843, LOC129994844, LOC129994845, LOC129994846, LOC129994847, LOC129994848, LOC129994849, LOC129994850, LOC129994851, LOC129994852, LOC129994853, LOC129994854, LOC129994855, LOC129994856, LOC129994857, LOC129994858, LOC129994859, LOC129994860, LOC129994861, LOC129994862, LOC129994863, LOC129994864, LOC129994865, LOC129994866, LOC129994867, LOC129994868, LOC129994869, LOC129994870, LOC129994871, LOC129994872, LOC129994873, LOC129994874, LOC129994875, LOC129994876, LOC129994877, LOC129994878, LOC129994879, LOC129994880, LOC129994881, LOC129994882, LOC129994883, LOC129994884, LOC129994885, LOC129994886, LOC129994887, LOC129994888, LOC129994889, LOC129994890, LOC129994891, LOC129994892, LOC129994893, LOC129994894, LOC129994895, LOC129994896, LOC129994897, LOC129994898, LOC129994899, LOC129994900, LOC129994901, LOC129994902, LOC129994903, LOC129994904, LOC129994905, LOC129994906, LOC129994907, LOC129994908, LOC129994909, LOC129994910, LOC129994911, LOC129994912, LOC129994913, LOC129994914, LOC129994915, LOC129994916, LOC129994917, LOC129994918, LOC129994919, LOC129994920, LOC129994921, LOC129994922, LOC129994923, LOC129994924, LOC129994925, LOC129994926, LOC129994927, LOC129994928, LOC129994929, LOC129994930, LOC129994931, LOC129994932, LOC129994933, LOC129994934, LOC129994935, LOC129994936, LOC129994937, LOC129994938, LOC129994939, LOC129994940, LOC129994941, LOC129994942, LOC129994943, LOC129994944, LOC129994945, LOC129994946, LOC129994947, LOC129994948, LOC129994949, LOC129994950, LOC129994951, LOC129994952, LOC129994953, LOC129994954, LOC129994955, LOC129994956, LOC129994957, LOC129994958, LOC129994959, LOC129994960, LOC129994961, LOC129994962, LOC129994963, LOC129994964, LOC129994965, LOC129994966, LOC129994967, LOC129994968, LOC129994969, LOC129994970, LOC129994971, LOC129994972, LOC129994973, LOC129994974, LOC129994975, LOC129994976, LOC129994977, LOC129994978, LOC129994979, LOC129994980, LOC129994981, LOC129994982, LOC129994983, LOC129994984, LOC129994985, LOC129994986, LOC129994987, LOC129994988, LOC129994989, LOC129994990, LOC129994991, LOC129994992, LOC129994993, LOC129994994, LOC129994995, LOC129994996, LOC129994997, LOC129994998, LOC129994999, LOC129995000, LOC129995001, LOC129995002, LOC129995003, LOC129995004, LOC129995005, LOC129995006, LOC129995007, LOC129995008, LOC129995009, LOC129995010, LOC129995011, LOC129995012, LOC129995013, LOC129995014, LOC129995015, LOC129995016, LOC129995017, LOC129995018, LOC129995019, LOC129995020, LOC129995021, LOC129995022, LOC129995023, LOC129995024, LOC129995025, LOC129995026, LOC129995027, LOC129995028, LOC129995029, LOC129995030, LOC129995031, LOC129995032, LOC129995033, LOC129995034, LOC129995035, LOC129995036, LOC129995037, LOC129995038, LOC129995039, LOC129995040, LOC129995041, LOC129995042, LOC129995043, LOC129995044, LOC129995045, LOC129995046, LOC129995047, LOC129995048, LOC129995049, LOC129995050, LOC129995051, LOC129995052, LOC129995053, LOC129995054, LOC129995055, LOC129995056, LOC129995057, LOC129995058, LOC129995059, LOC129995060, LOC129995061, LOC129995062, LOC129995063, LOC129995064, LOC129995065, LOC129995066, LOC129995067, LOC129995068, LOC129995069, LOC129995070, LOC129995071, LOC129995072, LOC129995073, LOC129995074, LOC129995075, LOC129995076, LOC129995077, LOC129995078, LOC129995079, LOC129995080, LOC129995081, LOC129995082, LOC129995083, LOC129995084, LOC129995085, LOC129995086, LOC129995087, LOC129995088, LOC129995089, LOC129995090, LOC129995091, LOC129995092, LOC129995093, LOC129995094, LOC129995095, LOC129995096, LOC129995097, LOC129995098, LOC129995099, LOC129995100, LOC129995101, LOC131768270, LOC132089162, LOC132089163, LOC132089164, LOC132089165, LOC132089166, LOC132089167, LOC132089168, LOC132089169, LOC132089170, LOC132089171, LOC132089172, LOC132089173, LOC132089174, LOC132089175, LOC132089176, LOC132089177, LOC132089178, LOC132089179, LOC132089180, LOC132089181, LOC132089182, LOC132089183, LOC132089184, LOC132089185, LOC132089186, LOC132089187, LOC132089188, LOC132089189, LOC132089190, LOC132089191, LOC132089192, LOC132089193, LOC132089194, LOC132089195, LOC132089196, LOC132089197, LOC132089198, LOC132089199, LOC132089200, LOC132089201, LOC132089202, LOC132089203, LOC132089204, LOC132089205, LOC132089206, LOC132089207, LOC132089208, LOC132089209, LOC132089210, LOC132089211, LOC132089212, LOC132089213, LOC132089214, LOC132089215, LOC132089216, LOC132089217, LOC132089218, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132089223, LOC132090732, LOC132090733, LOC132090734, LOC132090735, LOC132090736, LOC132090737, LOC132090738, LOC132090739, LOC132090740, LOC132090741, LOC132090742, LOC132090743, LOC132090744, LOC132090745, LOC132090746, LOC132090747, LOC132205961, LOC132205962, LOC285638, LOX, LRRTM2, LVRN, LYRM7, MACROH2A1, MALINC1, MAN2A1, MAN2A1-DT, MARCHF3, MARCOL, MATR3, MCC, MEGF10, MEIKIN, MFAP3, MGC32805, MINAR2, MIR12130, MIR1244-2, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC126807549, LOC126807550, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC127814297, LOC128772274, LOC129389338, LOC129389339, LOC129389340, LOC129389341, LOC129389342, LOC129389343, LOC129389344, LOC129389345, LOC129389346, LOC129389347, LOC129389348, LOC129389349, LOC129389350, LOC129389351, LOC129389352, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129389360, LOC129389361, LOC129389362, LOC129389363, LOC129389364, LOC129389365, LOC129389366, LOC129389367, LOC129389368, LOC129389369, LOC129389370, LOC129389371, LOC129389372, LOC129389373, LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129389378, LOC129389379, LOC129389380, LOC129389381, LOC129389382, LOC129389383, LOC129389384, LOC129389385, LOC129389386, LOC129389387, LOC129389388, LOC129389389, LOC129389390, LOC129389391, LOC129389392, LOC129389393, LOC129389394, LOC129389395, LOC129389396, LOC129389397, LOC129389398, LOC129389399, LOC129389400, LOC129389401, LOC129994308, LOC129994309, LOC129994310, LOC129994311, LOC129994312, LOC129994313, LOC129994314, LOC129994315, LOC129994316, LOC129994317, LOC129994318, LOC129994319, LOC129994320, LOC129994321, LOC129994322, LOC129994323, LOC129994324, LOC129994325, LOC129994326, LOC129994327, LOC129994328, LOC129994329, LOC129994330, LOC129994331, LOC129994332, LOC129994333, LOC129994334, LOC129994335, LOC129994336, LOC129994337, LOC129994338, LOC129994339, LOC129994340, LOC129994341, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC129994346, LOC129994347, LOC129994348, LOC129994349, LOC129994350, LOC129994351, LOC129994352, LOC129994353, LOC129994354, LOC129994355, LOC129994356, LOC129994357, LOC129994358, LOC129994359, LOC129994360, LOC129994361, LOC129994362, LOC129994363, LOC129994364, LOC129994365, LOC129994366, LOC129994367, LOC129994368, LOC129994369, LOC129994370, LOC129994371, LOC129994372, LOC129994373, LOC129994374, LOC129994375, LOC129994376, LOC129994377, LOC129994378, LOC129994379, LOC129994380, LOC129994381, LOC129994382, LOC129994383, LOC129994384, LOC129994385, LOC129994386, LOC129994387, LOC129994388, LOC129994389, LOC129994390, LOC129994391, LOC129994392, LOC129994393, LOC129994394, LOC129994395, LOC129994396, LOC129994397, LOC129994398, LOC129994399, LOC129994400, LOC129994401, LOC129994402, LOC129994403, LOC129994404, LOC129994405, LOC129994406, LOC129994407, LOC129994408, LOC129994409, LOC129994410, LOC129994411, LOC129994412, LOC129994413, LOC129994414, LOC129994415, LOC129994416, LOC129994417, LOC129994418, LOC129994419, LOC129994420, LOC129994421, LOC129994422, LOC129994423, LOC129994424, LOC129994425, LOC129994426, LOC129994427, LOC129994428, LOC129994429, LOC129994430, LOC129994431, LOC129994432, LOC129994433, LOC129994434, LOC129994435, LOC129994436, LOC129994437, LOC129994438, LOC129994439, LOC129994440, LOC129994441, LOC129994442, LOC129994443, LOC129994444, LOC129994445, LOC129994446, LOC129994447, LOC129994448, LOC129994449, LOC129994450, LOC129994451, LOC129994452, LOC129994453, LOC129994454, LOC129994455, LOC129994456, LOC129994457, LOC129994458, LOC129994459, LOC129994460, LOC129994461, LOC129994462, LOC129994463, LOC129994464, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC129994526, LOC129994527, LOC129994528, LOC129994529, LOC129994530, LOC129994531, LOC129994532, LOC129994533, LOC129994534, LOC129994535, LOC129994536, LOC129994537, LOC129994538, LOC129994539, LOC129994540, LOC129994541, LOC129994542, LOC129994543, LOC129994544, LOC129994545, LOC129994546, LOC129994547, LOC129994548, LOC129994549, LOC129994550, LOC129994551, LOC129994552, LOC129994553, LOC129994554, LOC129994555, LOC129994556, LOC129994557, LOC129994558, LOC129994559, LOC129994560, LOC129994561, LOC129994562, LOC129994563, LOC129994564, LOC129994565, LOC129994566, LOC129994567, LOC129994568, LOC129994569, LOC129994570, LOC129994571, LOC129994572, LOC129994573, LOC129994574, LOC129994575, LOC129994576, LOC129994577, LOC129994578, LOC129994579, LOC129994580, LOC129994581, LOC129994582, LOC129994583, LOC129994584, LOC129994585, LOC129994586, LOC129994587, LOC129994588, LOC129994589, LOC129994590, LOC129994591, LOC129994592, LOC129994593, LOC129994594, LOC129994595, LOC129994596, LOC129994597, LOC129994598, LOC129994599, LOC129994600, LOC129994601, LOC129994602, LOC129994603, LOC129994604, LOC129994605, LOC129994606, LOC129994607, LOC129994608, LOC129994609, LOC129994610, LOC129994611, LOC129994612, LOC129994613, LOC129994614, LOC129994615, LOC129994616, LOC129994617, LOC129994618, LOC129994619, LOC129994620, LOC129994621, LOC129994622, LOC129994623, LOC129994624, LOC129994625, LOC129994626, LOC129994627, LOC129994628, LOC129994629, LOC129994630, LOC129994631, LOC129994632, LOC129994633, LOC129994634, LOC129994635, LOC129994636, LOC129994637, LOC129994638, LOC129994639, LOC129994640, LOC129994641, LOC129994642, LOC129994643, LOC129994644, LOC129994645, LOC129994646, LOC129994647, LOC129994648, LOC129994649, LOC129994650, LOC129994651, LOC129994652, LOC129994653, LOC129994654, LOC129994655, LOC129994656, LOC129994657, LOC129994658, LOC129994659, LOC129994660, LOC129994661, LOC129994662, LOC129994663, LOC129994664, LOC129994665, LOC129994666, LOC129994667, LOC129994668, LOC129994669, LOC129994670, LOC129994671, LOC129994672, LOC129994673, LOC129994674, LOC129994675, LOC129994676, LOC129994677, LOC129994678, LOC129994679, LOC129994680, LOC129994681, LOC129994682, LOC129994683, LOC129994684, LOC129994685, LOC129994686, LOC129994687, LOC129994688, LOC129994689, LOC129994690, LOC129994691, LOC129994692, LOC129994693, LOC129994694, LOC129994695, LOC129994696, LOC129994697, LOC129994698, LOC129994699, LOC129994700, LOC129994701, LOC129994702
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr5:129183487-152733106
GRCh38:
Chr5:129847794-153353546
LOC129995052, LOC129995053, LOC129995054, LOC129995055, LOC129995056, LOC129995057, LOC129995058, LOC129995059, LOC129995060, LOC129995061, LOC129995062, LOC129995063, LOC131768270, LOC132089164, LOC132089165, LOC132089166, LOC132089167, LOC132089168, LOC132089169, LOC132089170, LOC132089171, LOC132089172, LOC132089173, LOC132089174, LOC132089175, LOC132089176, LOC132089177, LOC132089178, LOC132089179, LOC132089180, LOC132089181, LOC132089182, LOC132089183, LOC132089184, LOC132089185, LOC132089186, LOC132089187, LOC132089188, LOC132089189, LOC132089190, LOC132089191, LOC132089192, LOC132089193, LOC132089194, LOC132089195, LOC132089196, LOC132089197, LOC132089198, LOC132089199, LOC132089200, LOC132089201, LOC132089202, LOC132089203, LOC132089204, LOC132089205, LOC132089206, LOC132089207, LOC132089208, LOC132089209, LOC132089210, LOC132089211, LOC132089212, LOC132089213, LOC132089214, LOC132089215, LOC132089216, LOC132089217, LOC132089218, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132090733, LOC132090734, LOC132090735, LOC132090736, LOC132090737, LOC132090738, LOC132090739, LOC132090740, LOC132090741, LOC132090742, LOC132090743, LOC132090744, LOC132090745, LOC132090746, LOC132205961, LOC132205962, LRRTM2, LYRM7, MACROH2A1, MALINC1, MARCOL, MATR3, MEIKIN, MIR1289-2, MIR143, MIR145, MIR3655, MIR3661, MIR378A, MIR3936, MIR3936HG, MIR5197, MIR5692C1, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MYOT, MYOZ3, MYOZ3-AS1, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PITX1, PITX1-AS1, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPP2CA, PPP2CA-DT, PPP2R2B, PPP2R2B-IT1, PRELID2, PROB1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, RELL2, RNF14, RPS14, SAR1B, SCGB3A2, SEC24A, SEPTIN8, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC25A48-AS1, SLC26A2, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNHG4, SNORA74A, SNORA74D, SNORD63, SNORD63B, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TIFAB, TIGD6, TMCO6, TNIP1, TRPC7, TRPC7-AS1, TRPC7-AS2, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR55, WNT8A, WSPAR, YIPF5, ZCCHC10, ZMAT2, ZNF300, LOC129994540, LOC129994541, LOC129994542, LOC129994543, LOC129994544, LOC129994545, LOC129994546, LOC129994547, LOC129994548, LOC129994549, LOC129994550, LOC129994551, LOC129994552, LOC129994553, LOC129994554, LOC129994555, LOC129994556, LOC129994557, LOC129994558, LOC129994559, LOC129994560, LOC129994561, LOC129994562, LOC129994563, LOC129994564, LOC129994565, LOC129994566, LOC129994567, LOC129994568, LOC129994569, LOC129994570, LOC129994571, LOC129994572, LOC129994573, LOC129994574, LOC129994575, LOC129994576, LOC129994577, LOC129994578, LOC129994579, LOC129994580, LOC129994581, LOC129994582, LOC129994583, LOC129994584, LOC129994585, LOC129994586, LOC129994587, LOC129994588, LOC129994589, LOC129994590, LOC129994591, LOC129994592, LOC129994593, LOC129994594, LOC129994595, LOC129994596, LOC129994597, LOC129994598, LOC129994599, LOC129994600, LOC129994601, LOC129994602, LOC129994603, LOC129994604, LOC129994605, LOC129994606, LOC129994607, LOC129994608, LOC129994609, LOC129994610, LOC129994611, LOC129994612, LOC129994613, LOC129994614, LOC129994615, LOC129994616, LOC129994617, LOC129994618, LOC129994619, LOC129994620, LOC129994621, LOC129994622, LOC129994623, LOC129994624, LOC129994625, LOC129994626, LOC129994627, LOC129994628, LOC129994629, LOC129994630, LOC129994631, LOC129994632, LOC129994633, LOC129994634, LOC129994635, LOC129994636, LOC129994637, LOC129994638, LOC129994639, LOC129994640, LOC129994641, LOC129994642, LOC129994643, LOC129994644, LOC129994645, LOC129994646, LOC129994647, LOC129994648, LOC129994649, LOC129994650, LOC129994651, LOC129994652, LOC129994653, LOC129994654, LOC129994655, LOC129994656, LOC129994657, LOC129994658, LOC129994659, LOC129994660, LOC129994661, LOC129994662, LOC129994663, LOC129994664, LOC129994665, LOC129994666, LOC129994667, LOC129994668, LOC129994669, LOC129994670, LOC129994671, LOC129994672, LOC129994673, LOC129994674, LOC129994675, LOC129994676, LOC129994677, LOC129994678, LOC129994679, LOC129994680, LOC129994681, LOC129994682, LOC129994683, LOC129994684, LOC129994685, LOC129994686, LOC129994687, LOC129994688, LOC129994689, LOC129994690, LOC129994691, LOC129994692, LOC129994693, LOC129994694, LOC129994695, LOC129994696, LOC129994697, LOC129994698, LOC129994699, LOC129994700, LOC129994701, LOC129994702, LOC129994703, LOC129994704, LOC129994705, LOC129994706, LOC129994707, LOC129994708, LOC129994709, LOC129994710, LOC129994711, LOC129994712, LOC129994713, LOC129994714, LOC129994715, LOC129994716, LOC129994717, LOC129994718, LOC129994719, LOC129994720, LOC129994721, LOC129994722, LOC129994723, LOC129994724, LOC129994725, LOC129994726, LOC129994727, LOC129994728, LOC129994729, LOC129994730, LOC129994731, LOC129994732, LOC129994733, LOC129994734, LOC129994735, LOC129994736, LOC129994737, LOC129994738, LOC129994739, LOC129994740, LOC129994741, LOC129994742, LOC129994743, LOC129994744, LOC129994745, LOC129994746, LOC129994747, LOC129994748, LOC129994749, LOC129994750, LOC129994751, LOC129994752, LOC129994753, LOC129994754, LOC129994755, LOC129994756, LOC129994757, LOC129994758, LOC129994759, LOC129994760, LOC129994761, LOC129994762, LOC129994763, LOC129994764, LOC129994765, LOC129994766, LOC129994767, LOC129994768, LOC129994769, LOC129994770, LOC129994771, LOC129994772, LOC129994773, LOC129994774, LOC129994775, LOC129994776, LOC129994777, LOC129994778, LOC129994779, LOC129994780, LOC129994781, LOC129994782, LOC129994783, LOC129994784, LOC129994785, LOC129994786, LOC129994787, LOC129994788, LOC129994789, LOC129994790, LOC129994791, LOC129994792, LOC129994793, LOC129994794, LOC129994795, LOC129994796, LOC129994797, LOC129994798, LOC129994799, LOC129994800, LOC129994801, LOC129994802, LOC129994803, LOC129994804, LOC129994805, LOC129994806, LOC129994807, LOC129994808, LOC129994809, LOC129994810, LOC129994811, LOC129994812, LOC129994813, LOC129994814, LOC129994815, LOC129994816, LOC129994817, LOC129994818, LOC129994819, LOC129994820, LOC129994821, LOC129994822, LOC129994823, LOC129994824, LOC129994825, LOC129994826, LOC129994827, LOC129994828, LOC129994829, LOC129994830, LOC129994831, LOC129994832, LOC129994833, LOC129994834, LOC129994835, LOC129994836, LOC129994837, LOC129994838, LOC129994839, LOC129994840, LOC129994841, LOC129994842, LOC129994843, LOC129994844, LOC129994845, LOC129994846, LOC129994847, LOC129994848, LOC129994849, LOC129994850, LOC129994851, LOC129994852, LOC129994853, LOC129994854, LOC129994855, LOC129994856, LOC129994857, LOC129994858, LOC129994859, LOC129994860, LOC129994861, LOC129994862, LOC129994863, LOC129994864, LOC129994865, LOC129994866, LOC129994867, LOC129994868, LOC129994869, LOC129994870, LOC129994871, LOC129994872, LOC129994873, LOC129994874, LOC129994875, LOC129994876, LOC129994877, LOC129994878, LOC129994879, LOC129994880, LOC129994881, LOC129994882, LOC129994883, LOC129994884, LOC129994885, LOC129994886, LOC129994887, LOC129994888, LOC129994889, LOC129994890, LOC129994891, LOC129994892, LOC129994893, LOC129994894, LOC129994895, LOC129994896, LOC129994897, LOC129994898, LOC129994899, LOC129994900, LOC129994901, LOC129994902, LOC129994903, LOC129994904, LOC129994905, LOC129994906, LOC129994907, LOC129994908, LOC129994909, LOC129994910, LOC129994911, LOC129994912, LOC129994913, LOC129994914, LOC129994915, LOC129994916, LOC129994917, LOC129994918, LOC129994919, LOC129994920, LOC129994921, LOC129994922, LOC129994923, LOC129994924, LOC129994925, LOC129994926, LOC129994927, LOC129994928, LOC129994929, LOC129994930, LOC129994931, LOC129994932, LOC129994933, LOC129994934, LOC129994935, LOC129994936, LOC129994937, LOC129994938, LOC129994939, LOC129994940, LOC129994941, LOC129994942, LOC129994943, LOC129994944, LOC129994945, LOC129994946, LOC129994947, LOC129994948, LOC129994949, LOC129994950, LOC129994951, LOC129994952, LOC129994953, LOC129994954, LOC129994955, LOC129994956, LOC129994957, LOC129994958, LOC129994959, LOC129994960, LOC129994961, LOC129994962, LOC129994963, LOC129994964, LOC129994965, LOC129994966, LOC129994967, LOC129994968, LOC129994969, LOC129994970, LOC129994971, LOC129994972, LOC129994973, LOC129994974, LOC129994975, LOC129994976, LOC129994977, LOC129994978, LOC129994979, LOC129994980, LOC129994981, LOC129994982, LOC129994983, LOC129994984, LOC129994985, LOC129994986, LOC129994987, LOC129994988, LOC129994989, LOC129994990, LOC129994991, LOC129994992, LOC129994993, LOC129994994, LOC129994995, LOC129994996, LOC129994997, LOC129994998, LOC129994999, LOC129995000, LOC129995001, LOC129995002, LOC129995003, LOC129995004, LOC129995005, LOC129995006, LOC129995007, LOC129995008, LOC129995009, LOC129995010, LOC129995011, LOC129995012, LOC129995013, LOC129995014, LOC129995015, LOC129995016, LOC129995017, LOC129995018, LOC129995019, LOC129995020, LOC129995021, LOC129995022, LOC129995023, LOC129995024, LOC129995025, LOC129995026, LOC129995027, LOC129995028, LOC129995029, LOC129995030, LOC129995031, LOC129995032, LOC129995033, LOC129995034, LOC129995035, LOC129995036, LOC129995037, LOC129995038, LOC129995039, LOC129995040, LOC129995041, LOC129995042, LOC129995043, LOC129995044, LOC129995045, LOC129995046, LOC129995047, LOC129995048, LOC129995049, LOC129995050, LOC129995051, ABLIM3, ACSL6, ACSL6-AS1, ADRB2, AFAP1L1, AFF4, AFF4-DT, ANKHD1, ANKHD1-DT, ANKHD1-EIF4EBP3, ANXA6, APBB3, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARSI, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, CAMK2A, CAMLG, CARMN, CATSPER3, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDX1, CHSY3, CLMAT3, CSF1R, CSF2, CSNK1A1, CTB-1I21.1, CTB-99A3.1, DCANP1, CTNNA1, CTNNA1-AS1, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DNAJC18, DND1, DPYSL3, ECSCR, EGR1, EIF4EBP3, EPIST, ETF1, FAM13B, FAM13B-AS1, FAM53C, FAT2, FBXO38, FBXO38-DT, FCHSD1, FGF1, FNIP1, FSTL4, G3BP1, GDF9, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRPEL2, GRPEL2-AS1, GRXCR2, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, JADE2, JAKMIP2, JAKMIP2-AS1, KCTD16, KDM3B, KIF20A, KIF3A, KLHL3, LARS1, LEAP2, LECT2, LINC01470, LINC01843, LINC01844, LINC01933, LINC02863, LINC02900, LINC02999, LOC100128966, LOC100652758, LOC101929719, LOC105378230, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121107, LOC110121118, LOC110121171, LOC110121202, LOC110121271, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997557, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC119407423, LOC120285837, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725217, LOC121740630, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC126807549, LOC126807550, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC127814297, LOC128772274, LOC129389362, LOC129389363, LOC129389364, LOC129389365, LOC129389366, LOC129389367, LOC129389368, LOC129389369, LOC129389370, LOC129389371, LOC129389372, LOC129389373, LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129389378, LOC129389379, LOC129389380, LOC129389381, LOC129389382, LOC129389383, LOC129389384, LOC129389385, LOC129389386, LOC129389387, LOC129389388, LOC129389389, LOC129389390, LOC129389391, LOC129389392, LOC129389393, LOC129389394, LOC129389395, LOC129389396, LOC129389397, LOC129389398, LOC129389399, LOC129389400, LOC129389401, LOC129994532, LOC129994533, LOC129994534, LOC129994535, LOC129994536, LOC129994537, LOC129994538, LOC129994539
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
3.
GRCh37:
Chr5:130196621-154701371
GRCh38:
Chr5:130860928-155321811
ABLIM3, ACSL6, ACSL6-AS1, ADRB2, AFAP1L1, AFF4, AFF4-DT, ANKHD1, ANKHD1-DT, ANKHD1-EIF4EBP3, ANXA6, APBB3, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARSI, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, CAMK2A, CAMLG, CARMN, CATSPER3, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDX1, CLMAT3, CNOT8, CSF1R, CSF2, CSNK1A1, CTB-1I21.1, CTB-99A3.1, CTNNA1, CTNNA1-AS1, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DNAJC18, DND1, DPYSL3, ECSCR, EGR1, EIF4EBP3, EPIST, ETF1, FAM114A2, FAM13B, FAM13B-AS1, FAM53C, FAT2, FAXDC2, FBXO38, FBXO38-DT, FCHSD1, FGF1, FNIP1, FSTL4, G3BP1, GALNT10, GDF9, GEMIN5, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRIA1, GRPEL2, GRPEL2-AS1, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, JADE2, JAKMIP2, JAKMIP2-AS1, KCTD16, KDM3B, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LEAP2, LECT2, LINC01470, LINC01843, LINC01844, LINC01861, LINC01933, LINC02863, LINC02900, LINC02999, LOC100128966, LOC100652758, LOC101929719, LOC105378230, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108228201, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121107, LOC110121118, LOC110121171, LOC110121202, LOC110121271, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC112997570, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC116158526, LOC119407423, LOC120285837, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725217, LOC121740630, LOC121740631, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC126807549, LOC126807550, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC127814297, LOC128772274, LOC129389362, LOC129389363, LOC129389364, LOC129389365, LOC129389366, LOC129389367, LOC129389368, LOC129389369, LOC129389370, LOC129389371, LOC129389372, LOC129389373, LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129389378, LOC129389379, LOC129389380, LOC129389381, LOC129389382, LOC129389383, LOC129389384, LOC129389385, LOC129389386, LOC129389387, LOC129389388, LOC129389389, LOC129389390, LOC129389391, LOC129389392, LOC129389393, LOC129389394, LOC129389395, LOC129389396, LOC129389397, LOC129389398, LOC129389399, LOC129389400, LOC129389401, LOC129994533, LOC129994534, LOC129994535, LOC129994536, LOC129994537, LOC129994538, LOC129994539, LOC129994540, LOC129994541, LOC129994542, LOC129994543, LOC129994544, LOC129994545, LOC129994546, LOC129994547, LOC129994548, LOC129994549, LOC129994550, LOC129994551, LOC129994552, LOC129994553, LOC129994554, LOC129994555, LOC129994556, LOC129994557, LOC129994558, LOC129994559, LOC129994560, LOC129994561, LOC129994562, LOC129994563, LOC129994564, LOC129994565, LOC129994566, LOC129994567, LOC129994568, LOC129994569, LOC129994570, LOC129994571, LOC129994572, LOC129994573, LOC129994574, LOC129994575, LOC129994576, LOC129994577, LOC129994578, LOC129994579, LOC129994580, LOC129994581, LOC129994582, LOC129994583, LOC129994584, LOC129994585, LOC129994586, LOC129994587, LOC129994588, LOC129994589, LOC129994590, LOC129994591, LOC129994592, LOC129994593, LOC129994594, LOC129994595, LOC129994596, LOC129994597, LOC129994598, LOC129994599, LOC129994600, LOC129994601, LOC129994602, LOC129994603, LOC129994604, LOC129994605, LOC129994606, LOC129994607, LOC129994608, LOC129994609, LOC129994610, LOC129994611, LOC129994612, LOC129994613, LOC129994614, LOC129994615, LOC129994616, LOC129994617, LOC129994618, LOC129994619, LOC129994620, LOC129994621, LOC129994622, LOC129994623, LOC129994624, LOC129994625, LOC129994626, LOC129994627, LOC129994628, LOC129994629, LOC129994630, LOC129994631, LOC129994632, LOC129994633, LOC129994634, LOC129994635, LOC129994636, LOC129994637, LOC129994638, LOC129994639, LOC129994640, LOC129994641, LOC129994642, LOC129994643, LOC129994644, LOC129994645, LOC129994646, LOC129994647, LOC129994648, LOC129994649, LOC129994650, LOC129994651, LOC129994652, LOC129994653, LOC129994654, LOC129994655, LOC129994656, LOC129994657, LOC129994658, LOC129994659, LOC129994660, LOC129994661, LOC129994662, LOC129994663, LOC129994664, LOC129994665, LOC129994666, LOC129994667, LOC129994668, LOC129994669, LOC129994670, LOC129994671, LOC129994672, LOC129994673, LOC129994674, LOC129994675, LOC129994676, LOC129994677, LOC129994678, LOC129994679, LOC129994680, LOC129994681, LOC129994682, LOC129994683, LOC129994684, LOC129994685, LOC129994686, LOC129994687, LOC129994688, LOC129994689, LOC129994690, LOC129994691, LOC129994692, LOC129994693, LOC129994694, LOC129994695, LOC129994696, LOC129994697, LOC129994698, LOC129994699, LOC129994700, LOC129994701, LOC129994702, LOC129994703, LOC129994704, LOC129994705, LOC129994706, LOC129994707, LOC129994708, LOC129994709, LOC129994710, LOC129994711, LOC129994712, LOC129994713, LOC129994714, LOC129994715, LOC129994716, LOC129994717, LOC129994718, LOC129994719, LOC129994720, LOC129994721, LOC129994722, LOC129994723, LOC129994724, LOC129994725, LOC129994726, LOC129994727, LOC129994728, LOC129994729, LOC129994730, LOC129994731, LOC129994732, LOC129994733, LOC129994734, LOC129994735, LOC129994736, LOC129994737, LOC129994738, LOC129994739, LOC129994740, LOC129994741, LOC129994742, LOC129994743, LOC129994744, LOC129994745, LOC129994746, LOC129994747, LOC129994748, LOC129994749, LOC129994750, LOC129994751, LOC129994752, LOC129994753, LOC129994754, LOC129994755, LOC129994756, LOC129994757, LOC129994758, LOC129994759, LOC129994760, LOC129994761, LOC129994762, LOC129994763, LOC129994764, LOC129994765, LOC129994766, LOC129994767, LOC129994768, LOC129994769, LOC129994770, LOC129994771, LOC129994772, LOC129994773, LOC129994774, LOC129994775, LOC129994776, LOC129994777, LOC129994778, LOC129994779, LOC129994780, LOC129994781, LOC129994782, LOC129994783, LOC129994784, LOC129994785, LOC129994786, LOC129994787, LOC129994788, LOC129994789, LOC129994790, LOC129994791, LOC129994792, LOC129994793, LOC129994794, LOC129994795, LOC129994796, LOC129994797, LOC129994798, LOC129994799, LOC129994800, LOC129994801, LOC129994802, LOC129994803, LOC129994804, LOC129994805, LOC129994806, LOC129994807, LOC129994808, LOC129994809, LOC129994810, LOC129994811, LOC129994812, LOC129994813, LOC129994814, LOC129994815, LOC129994816, LOC129994817, LOC129994818, LOC129994819, LOC129994820, LOC129994821, LOC129994822, LOC129994823, LOC129994824, LOC129994825, LOC129994826, LOC129994827, LOC129994828, LOC129994829, LOC129994830, LOC129994831, LOC129994832, LOC129994833, LOC129994834, LOC129994835, LOC129994836, LOC129994837, LOC129994838, LOC129994839, LOC129994840, LOC129994841, LOC129994842, LOC129994843, LOC129994844, LOC129994845, LOC129994846, LOC129994847, LOC129994848, LOC129994849, LOC129994850, LOC129994851, LOC129994852, LOC129994853, LOC129994854, LOC129994855, LOC129994856, LOC129994857, LOC129994858, LOC129994859, LOC129994860, LOC129994861, LOC129994862, LOC129994863, LOC129994864, LOC129994865, LOC129994866, LOC129994867, LOC129994868, LOC129994869, LOC129994870, LOC129994871, LOC129994872, LOC129994873, LOC129994874, LOC129994875, LOC129994876, LOC129994877, LOC129994878, LOC129994879, LOC129994880, LOC129994881, LOC129994882, LOC129994883, LOC129994884, LOC129994885, LOC129994886, LOC129994887, LOC129994888, LOC129994889, LOC129994890, LOC129994891, LOC129994892, LOC129994893, LOC129994894, LOC129994895, LOC129994896, LOC129994897, LOC129994898, LOC129994899, LOC129994900, LOC129994901, LOC129994902, LOC129994903, LOC129994904, LOC129994905, LOC129994906, LOC129994907, LOC129994908, LOC129994909, LOC129994910, LOC129994911, LOC129994912, LOC129994913, LOC129994914, LOC129994915, LOC129994916, LOC129994917, LOC129994918, LOC129994919, LOC129994920, LOC129994921, LOC129994922, LOC129994923, LOC129994924, LOC129994925, LOC129994926, LOC129994927, LOC129994928, LOC129994929, LOC129994930, LOC129994931, LOC129994932, LOC129994933, LOC129994934, LOC129994935, LOC129994936, LOC129994937, LOC129994938, LOC129994939, LOC129994940, LOC129994941, LOC129994942, LOC129994943, LOC129994944, LOC129994945, LOC129994946, LOC129994947, LOC129994948, LOC129994949, LOC129994950, LOC129994951, LOC129994952, LOC129994953, LOC129994954, LOC129994955, LOC129994956, LOC129994957, LOC129994958, LOC129994959, LOC129994960, LOC129994961, LOC129994962, LOC129994963, LOC129994964, LOC129994965, LOC129994966, LOC129994967, LOC129994968, LOC129994969, LOC129994970, LOC129994971, LOC129994972, LOC129994973, LOC129994974, LOC129994975, LOC129994976, LOC129994977, LOC129994978, LOC129994979, LOC129994980, LOC129994981, LOC129994982, LOC129994983, LOC129994984, LOC129994985, LOC129994986, LOC129994987, LOC129994988, LOC129994989, LOC129994990, LOC129994991, LOC129994992, LOC129994993, LOC129994994, LOC129994995, LOC129994996, LOC129994997, LOC129994998, LOC129994999, LOC129995000, LOC129995001, LOC129995002, LOC129995003, LOC129995004, LOC129995005, LOC129995006, LOC129995007, LOC129995008, LOC129995009, LOC129995010, LOC129995011, LOC129995012, LOC129995013, LOC129995014, LOC129995015, LOC129995016, LOC129995017, LOC129995018, LOC129995019, LOC129995020, LOC129995021, LOC129995022, LOC129995023, LOC129995024, LOC129995025, LOC129995026, LOC129995027, LOC129995028, LOC129995029, LOC129995030, LOC129995031, LOC129995032, LOC129995033, LOC129995034, LOC129995035, LOC129995036, LOC129995037, LOC129995038, LOC129995039, LOC129995040, LOC129995041, LOC129995042, LOC129995043, LOC129995044, LOC129995045, LOC129995046, LOC129995047, LOC129995048, LOC129995049, LOC129995050, LOC129995051, LOC129995052, LOC129995053, LOC129995054, LOC129995055, LOC129995056, LOC129995057, LOC129995058, LOC129995059, LOC129995060, LOC129995061, LOC129995062, LOC129995063, LOC129995064, LOC129995065, LOC129995066, LOC129995067, LOC129995068, LOC129995069, LOC129995070, LOC129995071, LOC129995072, LOC129995073, LOC129995074, LOC129995075, LOC129995076, LOC129995077, LOC129995078, LOC129995079, LOC129995080, LOC129995081, LOC129995082, LOC129995083, LOC129995084, LOC129995085, LOC129995086, LOC129995087, LOC129995088, LOC129995089, LOC129995090, LOC129995091, LOC129995092, LOC129995093, LOC129995094, LOC129995095, LOC129995096, LOC129995097, LOC129995098, LOC129995099, LOC129995100, LOC131768270, LOC132089164, LOC132089165, LOC132089166, LOC132089167, LOC132089168, LOC132089169, LOC132089170, LOC132089171, LOC132089172, LOC132089173, LOC132089174, LOC132089175, LOC132089176, LOC132089177, LOC132089178, LOC132089179, LOC132089180, LOC132089181, LOC132089182, LOC132089183, LOC132089184, LOC132089185, LOC132089186, LOC132089187, LOC132089188, LOC132089189, LOC132089190, LOC132089191, LOC132089192, LOC132089193, LOC132089194, LOC132089195, LOC132089196, LOC132089197, LOC132089198, LOC132089199, LOC132089200, LOC132089201, LOC132089202, LOC132089203, LOC132089204, LOC132089205, LOC132089206, LOC132089207, LOC132089208, LOC132089209, LOC132089210, LOC132089211, LOC132089212, LOC132089213, LOC132089214, LOC132089215, LOC132089216, LOC132089217, LOC132089218, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132089223, LOC132090733, LOC132090734, LOC132090735, LOC132090736, LOC132090737, LOC132090738, LOC132090739, LOC132090740, LOC132090741, LOC132090742, LOC132090743, LOC132090744, LOC132090745, LOC132090746, LOC132090747, LOC132205961, LOC132205962, LRRTM2, LYRM7, MACROH2A1, MALINC1, MARCOL, MATR3, MEIKIN, MFAP3, MIR1289-2, MIR1294, MIR1303, MIR143, MIR145, MIR3141, MIR3655, MIR3661, MIR378A, MIR378H, MIR3936, MIR3936HG, MIR5197, MIR5692C1, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MRPL22, MYOT, MYOZ3, MYOZ3-AS1, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PITX1, PITX1-AS1, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPP2CA, PPP2CA-DT, PPP2R2B, PPP2R2B-IT1, PRELID2, PROB1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, RELL2, RNF14, RPS14, SAP30L, SAP30L-AS1, SAR1B, SCGB3A2, SEC24A, SEPTIN8, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC25A48-AS1, SLC26A2, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNHG4, SNORA74A, SNORA74D, SNORD63, SNORD63B, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TIFAB, TIGD6, TMCO6, TNIP1, TRPC7, TRPC7-AS1, TRPC7-AS2, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR55, WNT8A, WSPAR, YIPF5, ZCCHC10, ZMAT2, ZNF300
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr5:132737257-137772727
GRCh38:
Chr5:133401565-138437038
BRD8, C5orf15, C5orf24, CAMLG, CATSPER3, CDC23, CDC25C, CDKL3, CDKN2AIPNL, CTB-1I21.1, CXCL14, DCANP1, DDX46, EPIST, LOC129994626, LOC129994627, LOC129994628, LOC129994629, LOC129994630, LOC129994631, LOC129994632, LOC129994633, LOC129994634, LOC129994635, LOC129994636, LOC129994637, LOC129994638, LOC129994639, LOC129994640, LOC129994641, LOC129994642, LOC129994643, LOC129994644, LOC129994645, LOC129994646, LOC129994647, LOC129994648, LOC129994649, LOC129994650, LOC129994651, LOC129994652, LOC129994653, LOC129994654, LOC129994655, LOC129994656, LOC129994657, LOC129994658, LOC129994659, LOC129994660, LOC129994661, LOC129994662, LOC129994663, LOC129994664, LOC129994665, LOC129994666, LOC129994667, LOC129994668, LOC129994669, LOC129994670, LOC129994671, LOC129994672, LOC129994673, LOC129994674, LOC129994675, LOC129994676, LOC129994677, LOC129994678, LOC129994679, LOC129994680, LOC129994681, LOC129994682, LOC129994683, LOC129994684, LOC129994685, LOC129994686, LOC129994687, LOC129994688, LOC129994689, LOC129994690, LOC129994691, LOC129994692, LOC129994693, LOC129994694, LOC129994695, LOC129994696, LOC129994697, LOC129994698, LOC129994699, LOC129994700, LOC129994701, LOC129994702, LOC129994703, LOC129994704, LOC129994705, LOC129994706, LOC129994707, LOC129994708, LOC129994709, LOC129994710, LOC129994711, LOC129994712, LOC129994713, LOC129994714, LOC129994715, LOC129994716, LOC129994717, LOC129994718, LOC129994719, LOC129994720, LOC129994721, LOC129994722, LOC129994723, LOC129994724, LOC129994725, LOC129994726, LOC129994727, LOC129994728, LOC129994729, LOC129994730, LOC129994731, LOC129994732, LOC129994733, LOC129994734, LOC129994735, LOC129994736, LOC129994737, LOC129994738, LOC129994739, MACROH2A1, MIR1289-2, MIR3661, MIR5692C1, MIR874, MYOT, NEUROG1, NME5, PCBD2, PITX1, PITX1-AS1, PKD2L2, PKD2L2-DT, PPP2CA, PPP2CA-DT, SAR1B, SEC24A, SKP1, SLC25A48, SLC25A48-AS1, SMAD5, SMAD5-AS1, SMIM32, SPOCK1, TCF7, TGFBI, TIFAB, TRPC7, TRPC7-AS1, TRPC7-AS2, TXNDC15, UBE2B, VDAC1, VTRNA2-1, WNT8A, WSPAR, FAM13B, FAM13B-AS1, FAM53C, FSTL4, GFRA3, HNRNPA0, IL9, JADE2, KDM3B, KIF20A, KLHL3, LECT2, LINC01843, LINC02900, LINC02999, LOC100128966, LOC105379183, LOC105379192, LOC107986453, LOC110121118, LOC110121271, LOC111500310, LOC112997559, LOC112997560, LOC112997561, LOC121099701, LOC121099702, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC129389363, LOC129389364, LOC129389365, LOC129389366, LOC129389367, LOC129389368, LOC129389369, LOC129389370, LOC129389371, LOC129389372, LOC129389373, LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129994618, LOC129994619, LOC129994620, LOC129994621, LOC129994622, LOC129994623, LOC129994624, LOC129994625
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr5:134632984-139485588
GRCh38:
Chr5:135297294-140106003
BRD8, CDC23, CDC25C, CTB-1I21.1, CTNNA1, CTNNA1-AS1, CXCL14, CXXC5, CXXC5-AS1, DCANP1, DNAJC18, ECSCR, EGR1, ETF1, FAM13B, FAM13B-AS1, FAM53C, GFRA3, HNRNPA0, HSPA9, IL9, KDM3B, KIF20A, KLHL3, LECT2, LOC100128966, LOC105379192, LOC107986453, LOC110121118, LOC110121271, LOC112997559, LOC112997560, LOC112997561, LOC114004387, LOC116158522, LOC116158523, LOC121099703, LOC121099704, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC129389369, LOC129389370, LOC129389371, LOC129389372, LOC129389373, LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129389378, LOC129994694, LOC129994695, LOC129994696, LOC129994697, LOC129994698, LOC129994699, LOC129994700, LOC129994701, LOC129994702, LOC129994703, LOC129994704, LOC129994705, LOC129994706, LOC129994707, LOC129994708, LOC129994709, LOC129994710, LOC129994711, LOC129994712, LOC129994713, LOC129994714, LOC129994715, LOC129994716, LOC129994717, LOC129994718, LOC129994719, LOC129994720, LOC129994721, LOC129994722, LOC129994723, LOC129994724, LOC129994725, LOC129994726, LOC129994727, LOC129994728, LOC129994729, LOC129994730, LOC129994731, LOC129994732, LOC129994733, LOC129994734, LOC129994735, LOC129994736, LOC129994737, LOC129994738, LOC129994739, LOC129994740, LOC129994741, LOC129994742, LOC129994743, LOC129994744, LOC129994745, LOC129994746, LOC129994747, LOC129994748, LOC129994749, LOC129994750, LOC129994751, LOC129994752, LOC129994753, LOC129994754, LOC129994755, LOC129994756, LOC129994757, LOC129994758, LOC129994759, LOC129994760, LOC129994761, LOC129994762, LOC129994763, LOC129994764, LOC129994765, LOC129994766, LOC129994767, LOC129994768, LOC129994769, LOC129994770, LOC129994771, LOC129994772, LOC129994773, LOC129994774, LOC129994775, LOC129994776, LOC129994777, LOC129994778, LOC129994779, LOC129994780, LOC129994781, LOC129994782, LOC129994783, LOC129994784, LOC129994785, LOC129994786, LOC129994787, LOC129994788, LOC129994789, LOC129994790, LOC129994791, LOC129994792, LOC129994793, LOC129994794, LOC129994795, LOC129994796, LOC129994797, LOC129994798, LOC129994799, LOC129994800, LOC129994801, LOC129994802, LOC129994803, LOC129994804, LOC129994805, LOC129994806, LOC129994807, LOC129994808, LOC129994809, LOC129994810, LOC129994811, LOC129994812, LOC129994813, LOC129994814, LOC129994815, LOC129994816, LOC129994817, LOC129994818, LOC129994819, LRRTM2, MACROH2A1, MALINC1, MATR3, MIR5692C1, MIR874, MYOT, MZB1, NEUROG1, NME5, NRG2, PAIP2, PITX1-AS1, PKD2L2, PKD2L2-DT, PROB1, PSD2, PSD2-AS1, REEP2, SIL1, SLC23A1, SLC25A48, SLC25A48-AS1, SMAD5, SMAD5-AS1, SMIM32, SMIM33, SNHG4, SNORA74A, SNORA74D, SNORD63, SNORD63B, SPATA24, SPOCK1, STING1, TGFBI, TIFAB, TRPC7, TRPC7-AS1, TRPC7-AS2, UBE2D2, VTRNA2-1, WNT8A
See casesPathogenic
(Jul 10, 2013)
no assertion criteria provided
6.
GRCh37:
Chr5:137172371-140075946
GRCh38:
Chr5:137836682-140696361
ANKHD1, ANKHD1-DT, ANKHD1-EIF4EBP3, APBB3, BRD8, CD14, CDC23, CDC25C, CTNNA1, CTNNA1-AS1, CXXC5, CXXC5-AS1, CYSTM1, DNAJC18, DND1, ECSCR, EGR1, EIF4EBP3, ETF1, FAM13B, FAM13B-AS1, FAM53C, GFRA3, HARS1, HARS2, HBEGF, HSPA9, IGIP, IK, KDM3B, KIF20A, LOC100128966, LOC101929719, LOC112997560, LOC112997561, LOC114004387, LOC116158522, LOC116158523, LOC119407423, LOC121099703, LOC121099704, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129389378, LOC129994721, LOC129994722, LOC129994723, LOC129994724, LOC129994725, LOC129994726, LOC129994727, LOC129994728, LOC129994729, LOC129994730, LOC129994731, LOC129994732, LOC129994733, LOC129994734, LOC129994735, LOC129994736, LOC129994737, LOC129994738, LOC129994739, LOC129994740, LOC129994741, LOC129994742, LOC129994743, LOC129994744, LOC129994745, LOC129994746, LOC129994747, LOC129994748, LOC129994749, LOC129994750, LOC129994751, LOC129994752, LOC129994753, LOC129994754, LOC129994755, LOC129994756, LOC129994757, LOC129994758, LOC129994759, LOC129994760, LOC129994761, LOC129994762, LOC129994763, LOC129994764, LOC129994765, LOC129994766, LOC129994767, LOC129994768, LOC129994769, LOC129994770, LOC129994771, LOC129994772, LOC129994773, LOC129994774, LOC129994775, LOC129994776, LOC129994777, LOC129994778, LOC129994779, LOC129994780, LOC129994781, LOC129994782, LOC129994783, LOC129994784, LOC129994785, LOC129994786, LOC129994787, LOC129994788, LOC129994789, LOC129994790, LOC129994791, LOC129994792, LOC129994793, LOC129994794, LOC129994795, LOC129994796, LOC129994797, LOC129994798, LOC129994799, LOC129994800, LOC129994801, LOC129994802, LOC129994803, LOC129994804, LOC129994805, LOC129994806, LOC129994807, LOC129994808, LOC129994809, LOC129994810, LOC129994811, LOC129994812, LOC129994813, LOC129994814, LOC129994815, LOC129994816, LOC129994817, LOC129994818, LOC129994819, LOC129994820, LOC129994821, LOC129994822, LOC129994823, LOC129994824, LOC129994825, LOC129994826, LOC129994827, LOC129994828, LOC129994829, LOC129994830, LOC129994831, LOC129994832, LOC129994833, LOC129994834, LOC129994835, LOC129994836, LOC129994837, LOC129994838, LOC129994839, LOC129994840, LOC129994841, LOC129994842, LOC129994843, LOC129994844, LOC129994845, LOC129994846, LOC129994847, LOC129994848, LOC131768270, LRRTM2, MALINC1, MATR3, MIR3655, MIR6831, MYOT, MZB1, NDUFA2, NME5, NRG2, PAIP2, PFDN1, PKD2L2, PKD2L2-DT, PROB1, PSD2, PSD2-AS1, PURA, REEP2, SIL1, SLC23A1, SLC35A4, SLC4A9, SMIM33, SNHG4, SNORA74A, SNORA74D, SNORD63, SNORD63B, SPATA24, SRA1, STING1, TMCO6, UBE2D2, WDR55, WNT8A
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
7.
GRCh37:
Chr5:137203568
GRCh38:
Chr5:137867879
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Feb 2, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr5:137203603
GRCh38:
Chr5:137867914
MYOT, PKD2L2-DTLimb-Girdle Muscular Dystrophy, Dominant, not provided, Myofibrillar myopathy 3
Benign/Likely benign
(May 29, 2020)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr5:137203621
GRCh38:
Chr5:137867932
PKD2L2-DT, MYOTLimb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr5:137205815-137205816
GRCh38:
Chr5:137870126-137870127
PKD2L2-DT, MYOTnot providedLikely benign
(Jan 28, 2020)
criteria provided, single submitter
11.
GRCh37:
Chr5:137205816
GRCh38:
Chr5:137870127
MYOT, PKD2L2-DTnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr5:137205830
GRCh38:
Chr5:137870141
MYOT, PKD2L2-DTnot providedBenign
(Oct 26, 2019)
criteria provided, single submitter
13.
GRCh37:
Chr5:137205956
GRCh38:
Chr5:137870267
MYOT, PKD2L2-DTnot providedBenign
(Jul 15, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr5:137205977-137205978
GRCh38:
Chr5:137870288-137870289
MYOT, PKD2L2-DTnot providedBenign
(Aug 18, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr5:137205977-137205978
GRCh38:
Chr5:137870288-137870289
MYOT, PKD2L2-DTnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr5:137205977-137205978
GRCh38:
Chr5:137870288-137870289
MYOT, PKD2L2-DTnot providedBenign
(Aug 6, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr5:137205977-137205978
GRCh38:
Chr5:137870288-137870289
MYOT, PKD2L2-DTnot providedBenign
(Aug 6, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr5:137205977-137205978
GRCh38:
Chr5:137870288-137870289
MYOT, PKD2L2-DTnot providedLikely benign
(Dec 7, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr5:137205978-137205983
GRCh38:
Chr5:137870289-137870294
PKD2L2-DT, MYOTnot providedBenign
(Nov 7, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr5:137206176
GRCh38:
Chr5:137870487
PKD2L2-DT, MYOTLimb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr5:137206251
GRCh38:
Chr5:137870562
MYOT, PKD2L2-DTLimb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr5:137206341
GRCh38:
Chr5:137870652
MYOT, PKD2L2-DTM1LMyofibrillar myopathy 3Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr5:137206356
GRCh38:
Chr5:137870667
MYOT, PKD2L2-DTR6CMyofibrillar myopathy 3Uncertain significance
(May 15, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr5:137206357
GRCh38:
Chr5:137870668
MYOT, PKD2L2-DTR6Hnot provided, Myofibrillar myopathy 3Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr5:137206374
GRCh38:
Chr5:137870685
MYOT, PKD2L2-DTQ12Enot providedUncertain significance
(Aug 9, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr5:137206388
GRCh38:
Chr5:137870699
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jul 6, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr5:137206389
GRCh38:
Chr5:137870700
MYOT, PKD2L2-DTC17SMyofibrillar myopathy 3Uncertain significance
(Feb 18, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr5:137206389
GRCh38:
Chr5:137870700
MYOT, PKD2L2-DTC17RMyofibrillar myopathy 3Likely benign
(Oct 24, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr5:137206390
GRCh38:
Chr5:137870701
MYOT, PKD2L2-DTC17YMyofibrillar myopathy 3Uncertain significance
(Nov 7, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr5:137206393
GRCh38:
Chr5:137870704
MYOT, PKD2L2-DTG18VMyofibrillar myopathy 3Uncertain significance
(Feb 25, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:137206401
GRCh38:
Chr5:137870712
MYOT, PKD2L2-DTnot provided, Myofibrillar myopathy 3Conflicting interpretations of pathogenicity
(Feb 11, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr5:137206407
GRCh38:
Chr5:137870718
PKD2L2-DT, MYOTP23TMyofibrillar myopathy 3Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr5:137206407
GRCh38:
Chr5:137870718
MYOT, PKD2L2-DTP23SMyofibrillar myopathy 3, not providedUncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:137206416
GRCh38:
Chr5:137870727
MYOT, PKD2L2-DTP26SInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:137206423
GRCh38:
Chr5:137870734
MYOT, PKD2L2-DTT28IMyofibrillar myopathy 3Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr5:137206426
GRCh38:
Chr5:137870737
MYOT, PKD2L2-DTS29FMyofibrillar myopathy 3Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr5:137206436
GRCh38:
Chr5:137870747
MYOT, PKD2L2-DTnot provided, Myofibrillar myopathy 3Conflicting interpretations of pathogenicity
(May 3, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr5:137206438
GRCh38:
Chr5:137870749
MYOT, PKD2L2-DTS33IMyofibrillar myopathy 3Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr5:137206445-137206448
GRCh38:
Chr5:137870756-137870759
MYOT, PKD2L2-DTK36fsnot provided, Myofibrillar myopathy 3Uncertain significance
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:137206456
GRCh38:
Chr5:137870767
MYOT, PKD2L2-DTS39Fnot provided, Myofibrillar myopathy 3Pathogenic/Likely pathogenic
(Oct 11, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr5:137206458
GRCh38:
Chr5:137870769
MYOT, PKD2L2-DTI40VMyofibrillar myopathy 3Uncertain significance
(Dec 20, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr5:137206460
GRCh38:
Chr5:137870771
MYOT, PKD2L2-DTnot provided, not specified, Myofibrillar myopathy 3
Conflicting interpretations of pathogenicity
(Aug 19, 2023)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr5:137206462
GRCh38:
Chr5:137870773
MYOT, PKD2L2-DTI41Tnot provided, Myofibrillar myopathy 3Uncertain significance
(Aug 29, 2021)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr5:137206469
GRCh38:
Chr5:137870780
MYOT, PKD2L2-DTQ43Hnot providedUncertain significance
(Dec 4, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr5:137206474
GRCh38:
Chr5:137870785
MYOT, PKD2L2-DTR45HMyofibrillar myopathy 3Uncertain significance
(May 9, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr5:137206474
GRCh38:
Chr5:137870785
MYOT, PKD2L2-DTR45LMyofibrillar myopathy 3Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr5:137206477
GRCh38:
Chr5:137870788
MYOT, PKD2L2-DTQ46RMyofibrillar myopathy 3Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:137206477
GRCh38:
Chr5:137870788
MYOT, PKD2L2-DTQ46LMyofibrillar myopathy 3Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr5:137206483
GRCh38:
Chr5:137870794
PKD2L2-DT, MYOTT48Inot provided, Myofibrillar myopathy 3Uncertain significance
(Oct 9, 2019)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr5:137206485
GRCh38:
Chr5:137870796
MYOT, PKD2L2-DTE49QMyofibrillar myopathy 3Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr5:137206487
GRCh38:
Chr5:137870798
MYOT, PKD2L2-DTE49DMyofibrillar myopathy 3Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:137206489
GRCh38:
Chr5:137870800
MYOT, PKD2L2-DTLimb-Girdle Muscular Dystrophy, Dominant, not specified, not provided,
Myofibrillar myopathy 3
Benign/Likely benign
(Aug 19, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr5:137206491
GRCh38:
Chr5:137870802
MYOT, PKD2L2-DTR51GMyofibrillar myopathy 3, not providedUncertain significance
(Mar 22, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr5:137206496
GRCh38:
Chr5:137870807
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Mar 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:137206501-137206503
GRCh38:
Chr5:137870812-137870814
PKD2L2-DT, MYOTS56delnot providedUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr5:137206504
GRCh38:
Chr5:137870815
MYOT, PKD2L2-DTS55Fnot provided, Myofibrillar myopathy 3, Progressive distal muscle weakness,
Progressive proximal muscle weakness, Distal lower limb muscle weakness, Muscle fiber inclusion bodies,
Fatty replacement of skeletal muscle, Distal amyotrophy, Urinary bladder sphincter dysfunction,
Lower limb pain, Foot dorsiflexor weaknessEMG: myopathic abnormalities,
...see more
Pathogenic/Likely pathogenic
(Jan 11, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr5:137206507
GRCh38:
Chr5:137870818
MYOT, PKD2L2-DTS56LMyofibrillar myopathy 3Uncertain significancecriteria provided, single submitter
58.
GRCh37:
Chr5:137206510
GRCh38:
Chr5:137870821
PKD2L2-DT, MYOTT57fsnot providedUncertain significance
(Jan 22, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr5:137206510
GRCh38:
Chr5:137870821
MYOT, PKD2L2-DTT57Inot provided, Myofibrillar myopathy 3Pathogenic
(Jan 23, 2023)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr5:137206519
GRCh38:
Chr5:137870830
MYOT, PKD2L2-DTS60FMYOT-related condition, not provided, Myofibrillar myopathy 3
Pathogenic/Likely pathogenic
(Jul 27, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr5:137206519
GRCh38:
Chr5:137870830
MYOT, PKD2L2-DTS60Cnot provided, Myofibrillar myopathy 3Pathogenic
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr5:137206522
GRCh38:
Chr5:137870833
MYOT, PKD2L2-DTH61Pnot provided, Myofibrillar myopathy 3Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:137206531
GRCh38:
Chr5:137870842
MYOT, PKD2L2-DTM64KMyofibrillar myopathy 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr5:137206560
GRCh38:
Chr5:137870871
MYOT, PKD2L2-DTQ74KMyofibrillar myopathy 3, not specified, not provided
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr5:137206560
GRCh38:
Chr5:137870871
PKD2L2-DT, MYOTMyofibrillar myopathy 3, not specified, not provided
Benign
(Apr 4, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr5:137206565
GRCh38:
Chr5:137870876
MYOT, PKD2L2-DTQ75Hnot providedUncertain significance
(Mar 8, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr5:137206572
GRCh38:
Chr5:137870883
MYOT, PKD2L2-DTG78SInborn genetic diseases, not provided, Myofibrillar myopathy 3
Uncertain significance
(Feb 28, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:137206579
GRCh38:
Chr5:137870890
MYOT, PKD2L2-DTN80SMyofibrillar myopathy 3Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:137206580
GRCh38:
Chr5:137870891
PKD2L2-DT, MYOTnot provided, not specified, Myofibrillar myopathy 3
Benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr5:137206589
GRCh38:
Chr5:137870900
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jun 2, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr5:137206592
GRCh38:
Chr5:137870903
MYOT, PKD2L2-DTR84SMyofibrillar myopathy 3Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:137206592
GRCh38:
Chr5:137870903
MYOT, PKD2L2-DTnot provided, Myofibrillar myopathy 3Conflicting interpretations of pathogenicity
(Jan 19, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr5:137206595
GRCh38:
Chr5:137870906
MYOT, PKD2L2-DTnot provided, Myofibrillar myopathy 3Conflicting interpretations of pathogenicity
(Jan 18, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr5:137206597
GRCh38:
Chr5:137870908
MYOT, PKD2L2-DTT86KMyofibrillar myopathy 3, not providedUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr5:137206620
GRCh38:
Chr5:137870931
MYOT, PKD2L2-DTA94Tnot providedUncertain significance
(Jun 25, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr5:137206622
GRCh38:
Chr5:137870933
MYOT, PKD2L2-DTnot providedUncertain significance
(Aug 29, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr5:137206624
GRCh38:
Chr5:137870935
MYOT, PKD2L2-DTS95IMyofibrillar myopathy 3Pathogenic
(Apr 27, 2004)
no assertion criteria provided
78.
GRCh37:
Chr5:137206638
GRCh38:
Chr5:137870949
MYOT, PKD2L2-DTI100VMyofibrillar myopathy 3, not providedUncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr5:137206654
GRCh38:
Chr5:137870965
PKD2L2-DT, MYOTP105Lnot specifiedUncertain significance
(Dec 1, 2015)
criteria provided, single submitter
80.
GRCh37:
Chr5:137206658
GRCh38:
Chr5:137870969
MYOT, PKD2L2-DTD106EMyofibrillar myopathy 3Uncertain significance
(Jun 17, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr5:137206658
GRCh38:
Chr5:137870969
PKD2L2-DT, MYOTMyofibrillar myopathy 3Likely benign
(Mar 14, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr5:137206663
GRCh38:
Chr5:137870974
PKD2L2-DT, MYOTN108TInborn genetic diseases, not provided, Limb-Girdle Muscular Dystrophy, Dominant,
Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3, Heart failure
Conflicting interpretations of pathogenicity
(Sep 20, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr5:137206675
GRCh38:
Chr5:137870986
MYOT, PKD2L2-DTI112NLimb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3
Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:137206682
GRCh38:
Chr5:137870993
MYOT, PKD2L2-DTnot provided, Myofibrillar myopathy 3Conflicting interpretations of pathogenicity
(Oct 8, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr5:137206683
GRCh38:
Chr5:137870994
MYOT, PKD2L2-DTA115SLimb-Girdle Muscular Dystrophy, Dominant, not specified, Myofibrillar Myopathy, Dominant,
not provided, Inborn genetic diseases, Myofibrillar myopathy 3
Conflicting interpretations of pathogenicity
(Aug 10, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr5:137206683
GRCh38:
Chr5:137870994
MYOT, PKD2L2-DTnot specified, Myofibrillar myopathy 3, not provided
Benign/Likely benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr5:137206688
GRCh38:
Chr5:137870999
MYOT, PKD2L2-DTM1I, M116IMyofibrillar myopathy 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr5:137206709
GRCh38:
Chr5:137871020
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr5:137206924
GRCh38:
Chr5:137871235
MYOT, PKD2L2-DTnot providedBenign
(Jun 26, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr5:137211235
GRCh38:
Chr5:137875546
MYOT, PKD2L2-DTnot providedBenign
(Jul 15, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr5:137211268
GRCh38:
Chr5:137875579
MYOT, PKD2L2-DTnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr5:137211499
GRCh38:
Chr5:137875810
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Oct 5, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr5:137211503
GRCh38:
Chr5:137875814
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jun 17, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr5:137211520
GRCh38:
Chr5:137875831
MYOT, PKD2L2-DTY120C, Y5CMyofibrillar myopathy 3Likely benign
(Oct 22, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr5:137211525
GRCh38:
Chr5:137875836
MYOT, PKD2L2-DTQ7*, Q122*Myofibrillar myopathy 3Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr5:137211533
GRCh38:
Chr5:137875844
MYOT, PKD2L2-DTA125fs, A10fsnot provided, Myofibrillar myopathy 3Uncertain significance
(Feb 23, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr5:137211542
GRCh38:
Chr5:137875853
MYOT, PKD2L2-DTnot providedLikely benign
(Feb 17, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr5:137211546
GRCh38:
Chr5:137875857
MYOT, PKD2L2-DTI129V, I14VMyofibrillar myopathy 3Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr5:137211548
GRCh38:
Chr5:137875859
MYOT, PKD2L2-DTI129M, I14MMyofibrillar myopathy 3Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr5:137211552
GRCh38:
Chr5:137875863
MYOT, PKD2L2-DTA131S, A16SMyofibrillar myopathy 3Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
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