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Items: 1 to 100 of 450

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:
Chr5:134632984-139485588
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
5.
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
6.
GRCh37:
Chr5:138206826-145191872
GRCh38:
Chr5:138871137-145812309
ANKHD1, ANKHD1-DT, ANKHD1-EIF4EBP3, APBB3, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, CD14, CTNNA1, CXXC5, CXXC5-AS1, CYSTM1, DELE1, DIAPH1, DIAPH1-AS1, DNAJC18, DND1, ECSCR, EIF4EBP3, FCHSD1, FGF1, GNPDA1, HARS1, HARS2, HBEGF, HDAC3, HMHB1, IGIP, IK, KCTD16, LINC01844, LOC101929719, LOC109113859, LOC109113860, LOC109113862, LOC110121171, LOC111365180, LOC112267934, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC114004388, LOC114004389, LOC116158523, LOC116158524, LOC119407423, LOC120285837, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC129389378, LOC129389379, LOC129389380, LOC129389381, LOC129389382, LOC129389383, LOC129389384, 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, LOC131768270, LRRTM2, MALINC1, MATR3, MIR3655, MIR5197, MIR6831, MZB1, NDFIP1, NDUFA2, NR3C1, NRG2, PAIP2, 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, PFDN1, PRELID2, PROB1, PSD2, PSD2-AS1, PURA, RELL2, RNF14, SIL1, SLC23A1, SLC25A2, SLC35A4, SLC4A9, SMIM33, SNHG4, SNORA74A, SNORA74D, SPATA24, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, STING1, TAF7, TMCO6, UBE2D2, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, YIPF5, ZMAT2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr5:138439097-139062879
GRCh38:
Chr5:139103408-139683294
See casesUncertain significance
(Oct 14, 2010)
no assertion criteria provided
8.
GRCh37:
Chr5:138487100-138873213
GRCh38:
Chr5:139151411-139493628
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr5:138609435
GRCh38:
Chr5:139273746
LOC129994754, MATR3Distal myopathyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr5:138609570
GRCh38:
Chr5:139273881
MATR3Amyotrophic lateral sclerosis type 21Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr5:138609576
GRCh38:
Chr5:139273887
MATR3Amyotrophic lateral sclerosis type 21Benign
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr5:138609609
GRCh38:
Chr5:139273920
MATR3Amyotrophic lateral sclerosis type 21Benign
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr5:138609656
GRCh38:
Chr5:139273967
MATR3Amyotrophic lateral sclerosis type 21Uncertain significance
(Jan 15, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr5:138609797
GRCh38:
Chr5:139274108
LOC129994755, MATR3, SNHG4Amyotrophic lateral sclerosis type 21Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr5:138611841
GRCh38:
Chr5:139276152
MATR3, SNHG4Amyotrophic lateral sclerosis type 21Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr5:138614749
GRCh38:
Chr5:139279060
SNHG4, MATR3Amyotrophic lateral sclerosis type 21Benign
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr5:138629718
GRCh38:
Chr5:139294029
MATR3MATR3-related conditionUncertain significance
(Mar 15, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr5:138629963
GRCh38:
Chr5:139294274
MATR3not providedBenign
(Jul 3, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr5:138642734-138642736
GRCh38:
Chr5:139307045-139307047
MATR3not providedLikely benign
(Nov 21, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr5:138642828-138642829
GRCh38:
Chr5:139307139-139307140
MATR3not providedLikely benign
(Mar 25, 2020)
criteria provided, single submitter
21.
GRCh37:
Chr5:138642966
GRCh38:
Chr5:139307277
MATR3Amyotrophic lateral sclerosis type 21Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr5:138642981
GRCh38:
Chr5:139307292
MATR3Amyotrophic lateral sclerosis type 21Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr5:138642997-138642998
GRCh38:
Chr5:139307308-139307309
MATR3Distal myopathy, not providedBenign
(Oct 9, 2019)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr5:138643049
GRCh38:
Chr5:139307360
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Apr 27, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr5:138643062
GRCh38:
Chr5:139307373
MATR3not specified, not provided, Amyotrophic lateral sclerosis type 21
Benign
(Aug 10, 2019)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr5:138643063
GRCh38:
Chr5:139307374
MATR3not providedLikely benign
(Mar 29, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr5:138643089-138643090
GRCh38:
Chr5:139307400-139307401
MATR3not specifiedUncertain significance
(Jun 23, 2023)
criteria provided, single submitter
28.
GRCh37:
Chr5:138643100
GRCh38:
Chr5:139307411
MATR3Amyotrophic lateral sclerosis type 21Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr5:138643119
GRCh38:
Chr5:139307430
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr5:138643122
GRCh38:
Chr5:139307433
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Jun 2, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:138643173
GRCh38:
Chr5:139307484
MATR3Amyotrophic lateral sclerosis type 21Benign/Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr5:138643180
GRCh38:
Chr5:139307491
MATR3I26VInborn genetic diseasesUncertain significance
(Jul 13, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr5:138643189
GRCh38:
Chr5:139307500
MATR3L29FAmyotrophic lateral sclerosis type 21Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr5:138643190-138643191
GRCh38:
Chr5:139307501-139307502
MATR3Amyotrophic lateral sclerosis type 21Uncertain significance
(Aug 30, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:138643197
GRCh38:
Chr5:139307508
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Jul 23, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr5:138643206
GRCh38:
Chr5:139307517
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Nov 28, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr5:138643216
GRCh38:
Chr5:139307527
MATR3M38VAmyotrophic lateral sclerosis type 21Uncertain significance
(Aug 2, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:138643257
GRCh38:
Chr5:139307568
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Sep 1, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr5:138643269
GRCh38:
Chr5:139307580
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Apr 4, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr5:138643288
GRCh38:
Chr5:139307599
MATR3S62TAmyotrophic lateral sclerosis type 21Uncertain significance
(Nov 26, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr5:138643293
GRCh38:
Chr5:139307604
MATR3not providedUncertain significance
(Feb 1, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr5:138643294
GRCh38:
Chr5:139307605
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Aug 27, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr5:138643337
GRCh38:
Chr5:139307648
MATR3T78NAmyotrophic lateral sclerosis type 21Uncertain significance
(Mar 28, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:138643358
GRCh38:
Chr5:139307669
MATR3S85Cnot provided, Amyotrophic lateral sclerosis type 21Pathogenic
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr5:138643360
GRCh38:
Chr5:139307671
MATR3I86VInborn genetic diseases, Amyotrophic lateral sclerosis type 21Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr5:138643369
GRCh38:
Chr5:139307680
MATR3I89VAmyotrophic lateral sclerosis type 21Likely benign
(Apr 3, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:138643376
GRCh38:
Chr5:139307687
MATR3S91NAmyotrophic lateral sclerosis type 21Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr5:138643395
GRCh38:
Chr5:139307706
MATR3not provided, Amyotrophic lateral sclerosis type 21Benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr5:138643408
GRCh38:
Chr5:139307719
MATR3R102CAmyotrophic lateral sclerosis type 21Uncertain significance
(Jan 15, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr5:138643409
GRCh38:
Chr5:139307720
MATR3R102HInborn genetic diseases, Amyotrophic lateral sclerosis type 21Uncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr5:138643410
GRCh38:
Chr5:139307721
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Aug 6, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:138643410
GRCh38:
Chr5:139307721
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Jul 12, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr5:138643426
GRCh38:
Chr5:139307737
MATR3A108SAmyotrophic lateral sclerosis type 21Uncertain significance
(Mar 2, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:138643429
GRCh38:
Chr5:139307740
MATR3S109GAmyotrophic lateral sclerosis type 21Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr5:138643433
GRCh38:
Chr5:139307744
MATR3N110Tnot providedUncertain significance
(Jun 26, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr5:138643445
GRCh38:
Chr5:139307756
MATR3S114TMATR3-Related Disordernot providedno assertion provided
57.
GRCh37:
Chr5:138643448
GRCh38:
Chr5:139307759
MATR3F115CAmyotrophic lateral sclerosis type 21Uncertain significance
(Sep 12, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr5:138643462
GRCh38:
Chr5:139307773
MATR3R120GAmyotrophic lateral sclerosis type 21Uncertain significance
(May 30, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr5:138643483
GRCh38:
Chr5:139307794
MATR3R127CAmyotrophic lateral sclerosis type 21Uncertain significance
(Aug 25, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr5:138643488
GRCh38:
Chr5:139307799
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Oct 25, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr5:138643497
GRCh38:
Chr5:139307808
MATR3D131EAmyotrophic lateral sclerosis type 21Uncertain significance
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr5:138643524
GRCh38:
Chr5:139307835
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Jul 20, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr5:138643533
GRCh38:
Chr5:139307844
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Jul 20, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:138643543
GRCh38:
Chr5:139307854
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Aug 28, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr5:138643553
GRCh38:
Chr5:139307864
MATR3T150SAmyotrophic lateral sclerosis type 21Uncertain significance
(Jul 18, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr5:138643563
GRCh38:
Chr5:139307874
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Mar 17, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:138643564
GRCh38:
Chr5:139307875
MATR3P154SAmyotrophic lateral sclerosis type 21Pathogenic
(Mar 30, 2014)
no assertion criteria provided
68.
GRCh37:
Chr5:138643566
GRCh38:
Chr5:139307877
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Sep 15, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:138643567
GRCh38:
Chr5:139307878
MATR3T155PMATR3-related conditionUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr5:138643578
GRCh38:
Chr5:139307889
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Dec 28, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr5:138643595
GRCh38:
Chr5:139307906
MATR3S164FAmyotrophic lateral sclerosis type 21Uncertain significance
(Jan 28, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:138643595-138643597
GRCh38:
Chr5:139307906-139307908
MATR3A165delAmyotrophic lateral sclerosis type 21Uncertain significance
(Apr 20, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr5:138643603
GRCh38:
Chr5:139307914
MATR3R167Wnot provided, Amyotrophic lateral sclerosis type 21Uncertain significance
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr5:138643608
GRCh38:
Chr5:139307919
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Jun 15, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr5:138643611
GRCh38:
Chr5:139307922
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Dec 27, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr5:138643635
GRCh38:
Chr5:139307946
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Nov 1, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr5:138643665
GRCh38:
Chr5:139307976
MATR3D187EAmyotrophic lateral sclerosis type 21Uncertain significance
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr5:138643684
GRCh38:
Chr5:139307995
MATR3P194SAmyotrophic lateral sclerosis type 21Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr5:138643701
GRCh38:
Chr5:139308012
MATR3Amyotrophic lateral sclerosis type 21Likely benign
(Jul 3, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr5:138643720
GRCh38:
Chr5:139308031
MATR3S206Gnot providedUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr5:138643724
GRCh38:
Chr5:139308035
MATR3R207HAmyotrophic lateral sclerosis type 21Uncertain significance
(Oct 4, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr5:138643730
GRCh38:
Chr5:139308041
MATR3Q209RAmyotrophic lateral sclerosisUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr5:138643730-138643732
GRCh38:
Chr5:139308041-139308043
MATR3E210delAmyotrophic lateral scl