| - 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, 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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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Jul 10, 2013) | no assertion criteria provided |
| - 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 cases | Pathogenic (Jul 30, 2010) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138439097-139062879
- GRCh38:
- Chr5:139103408-139683294
| CXXC5, CXXC5-AS1, DNAJC18, ECSCR, LOC116158523, LOC121099703, LOC121099704, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC126807526, LOC129389378, 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, MATR3, MZB1, PAIP2, PROB1, SIL1, SLC23A1, SMIM33, SNHG4, SNORA74A, SNORA74D, SPATA24, STING1, UBE2D2 | | See cases | Uncertain significance (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:138487100-138873213
- GRCh38:
- Chr5:139151411-139493628
| DNAJC18, ECSCR, LOC121099703, LOC123522801, LOC123522802, LOC123522803, LOC126807526, LOC129389378, 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, MATR3, MZB1, PAIP2, PROB1, SIL1, SLC23A1, SMIM33, SNHG4, SNORA74A, SNORA74D, SPATA24, STING1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138609435
- GRCh38:
- Chr5:139273746
| LOC129994754, MATR3 | | Distal myopathy | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138609570
- GRCh38:
- Chr5:139273881
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138609576
- GRCh38:
- Chr5:139273887
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138609609
- GRCh38:
- Chr5:139273920
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138609656
- GRCh38:
- Chr5:139273967
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138609797
- GRCh38:
- Chr5:139274108
| LOC129994755, MATR3, SNHG4 | | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138611841
- GRCh38:
- Chr5:139276152
| MATR3, SNHG4 | | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138614749
- GRCh38:
- Chr5:139279060
| SNHG4, MATR3 | | Amyotrophic lateral sclerosis type 21 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138629718
- GRCh38:
- Chr5:139294029
| MATR3 | | MATR3-related condition | Uncertain significance (Mar 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138629963
- GRCh38:
- Chr5:139294274
| MATR3 | | not provided | Benign (Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138642734-138642736
- GRCh38:
- Chr5:139307045-139307047
| MATR3 | | not provided | Likely benign (Nov 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138642828-138642829
- GRCh38:
- Chr5:139307139-139307140
| MATR3 | | not provided | Likely benign (Mar 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138642966
- GRCh38:
- Chr5:139307277
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138642981
- GRCh38:
- Chr5:139307292
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138642997-138642998
- GRCh38:
- Chr5:139307308-139307309
| MATR3 | | Distal myopathy, not provided | Benign (Oct 9, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643049
- GRCh38:
- Chr5:139307360
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643062
- GRCh38:
- Chr5:139307373
| MATR3 | | not specified, not provided, Amyotrophic lateral sclerosis type 21
| Benign (Aug 10, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643063
- GRCh38:
- Chr5:139307374
| MATR3 | | not provided | Likely benign (Mar 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643089-138643090
- GRCh38:
- Chr5:139307400-139307401
| MATR3 | | not specified | Uncertain significance (Jun 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643100
- GRCh38:
- Chr5:139307411
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643119
- GRCh38:
- Chr5:139307430
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643122
- GRCh38:
- Chr5:139307433
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643173
- GRCh38:
- Chr5:139307484
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Benign/Likely benign (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643180
- GRCh38:
- Chr5:139307491
| MATR3 | I26V | Inborn genetic diseases | Uncertain significance (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643189
- GRCh38:
- Chr5:139307500
| MATR3 | L29F | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643190-138643191
- GRCh38:
- Chr5:139307501-139307502
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643197
- GRCh38:
- Chr5:139307508
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643206
- GRCh38:
- Chr5:139307517
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Nov 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643216
- GRCh38:
- Chr5:139307527
| MATR3 | M38V | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643257
- GRCh38:
- Chr5:139307568
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643269
- GRCh38:
- Chr5:139307580
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643288
- GRCh38:
- Chr5:139307599
| MATR3 | S62T | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Nov 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643293
- GRCh38:
- Chr5:139307604
| MATR3 | | not provided | Uncertain significance (Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643294
- GRCh38:
- Chr5:139307605
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Aug 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643337
- GRCh38:
- Chr5:139307648
| MATR3 | T78N | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643358
- GRCh38:
- Chr5:139307669
| MATR3 | S85C | not provided, Amyotrophic lateral sclerosis type 21 | Pathogenic (Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643360
- GRCh38:
- Chr5:139307671
| MATR3 | I86V | Inborn genetic diseases, Amyotrophic lateral sclerosis type 21 | Uncertain significance (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643369
- GRCh38:
- Chr5:139307680
| MATR3 | I89V | Amyotrophic lateral sclerosis type 21 | Likely benign (Apr 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643376
- GRCh38:
- Chr5:139307687
| MATR3 | S91N | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643395
- GRCh38:
- Chr5:139307706
| MATR3 | | not provided, Amyotrophic lateral sclerosis type 21 | Benign (Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643408
- GRCh38:
- Chr5:139307719
| MATR3 | R102C | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643409
- GRCh38:
- Chr5:139307720
| MATR3 | R102H | Inborn genetic diseases, Amyotrophic lateral sclerosis type 21 | Uncertain significance (Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643410
- GRCh38:
- Chr5:139307721
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643410
- GRCh38:
- Chr5:139307721
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643426
- GRCh38:
- Chr5:139307737
| MATR3 | A108S | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643429
- GRCh38:
- Chr5:139307740
| MATR3 | S109G | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643433
- GRCh38:
- Chr5:139307744
| MATR3 | N110T | not provided | Uncertain significance (Jun 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643445
- GRCh38:
- Chr5:139307756
| MATR3 | S114T | MATR3-Related Disorder | not provided | no assertion provided |
| - GRCh37:
- Chr5:138643448
- GRCh38:
- Chr5:139307759
| MATR3 | F115C | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643462
- GRCh38:
- Chr5:139307773
| MATR3 | R120G | Amyotrophic lateral sclerosis type 21 | Uncertain significance (May 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643483
- GRCh38:
- Chr5:139307794
| MATR3 | R127C | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643488
- GRCh38:
- Chr5:139307799
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643497
- GRCh38:
- Chr5:139307808
| MATR3 | D131E | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643524
- GRCh38:
- Chr5:139307835
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643533
- GRCh38:
- Chr5:139307844
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643543
- GRCh38:
- Chr5:139307854
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643553
- GRCh38:
- Chr5:139307864
| MATR3 | T150S | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643563
- GRCh38:
- Chr5:139307874
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643564
- GRCh38:
- Chr5:139307875
| MATR3 | P154S | Amyotrophic lateral sclerosis type 21 | Pathogenic (Mar 30, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:138643566
- GRCh38:
- Chr5:139307877
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643567
- GRCh38:
- Chr5:139307878
| MATR3 | T155P | MATR3-related condition | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643578
- GRCh38:
- Chr5:139307889
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643595
- GRCh38:
- Chr5:139307906
| MATR3 | S164F | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643595-138643597
- GRCh38:
- Chr5:139307906-139307908
| MATR3 | A165del | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643603
- GRCh38:
- Chr5:139307914
| MATR3 | R167W | not provided, Amyotrophic lateral sclerosis type 21 | Uncertain significance (Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643608
- GRCh38:
- Chr5:139307919
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643611
- GRCh38:
- Chr5:139307922
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Dec 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643635
- GRCh38:
- Chr5:139307946
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643665
- GRCh38:
- Chr5:139307976
| MATR3 | D187E | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:138643684
- GRCh38:
- Chr5:139307995
| MATR3 | P194S | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643701
- GRCh38:
- Chr5:139308012
| MATR3 | | Amyotrophic lateral sclerosis type 21 | Likely benign (Jul 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643720
- GRCh38:
- Chr5:139308031
| MATR3 | S206G | not provided | Uncertain significance (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643724
- GRCh38:
- Chr5:139308035
| MATR3 | R207H | Amyotrophic lateral sclerosis type 21 | Uncertain significance (Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643730
- GRCh38:
- Chr5:139308041
| MATR3 | Q209R | Amyotrophic lateral sclerosis | Uncertain significance (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:138643730-138643732
- GRCh38:
- Chr5:139308041-139308043
| MATR3 | E210del | Amyotrophic lateral scl |