| - 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:
- Chr5:132737257-137772727
- GRCh38:
- Chr5:133401565-138437038
| BRD8, C5orf15, C5orf24, CAMLG, CATSPER3, CDC23, CDC25C, CDKL3, CDKN2AIPNL, CTB-1I21.1, CXCL14, DCANP1, DDX46, EPIST, LOC129994626, LOC129994627, LOC129994628, LOC129994629, LOC129994630, LOC129994631, LOC129994632, LOC129994633, LOC129994634, LOC129994635, LOC129994636, LOC129994637, LOC129994638, LOC129994639, LOC129994640, LOC129994641, LOC129994642, LOC129994643, LOC129994644, LOC129994645, LOC129994646, LOC129994647, LOC129994648, LOC129994649, LOC129994650, LOC129994651, LOC129994652, LOC129994653, LOC129994654, LOC129994655, LOC129994656, LOC129994657, LOC129994658, LOC129994659, LOC129994660, LOC129994661, LOC129994662, LOC129994663, LOC129994664, LOC129994665, LOC129994666, LOC129994667, LOC129994668, LOC129994669, LOC129994670, LOC129994671, LOC129994672, LOC129994673, LOC129994674, LOC129994675, LOC129994676, LOC129994677, LOC129994678, LOC129994679, LOC129994680, LOC129994681, LOC129994682, LOC129994683, LOC129994684, LOC129994685, LOC129994686, LOC129994687, LOC129994688, LOC129994689, LOC129994690, LOC129994691, LOC129994692, LOC129994693, LOC129994694, LOC129994695, LOC129994696, LOC129994697, LOC129994698, LOC129994699, LOC129994700, LOC129994701, LOC129994702, LOC129994703, LOC129994704, LOC129994705, LOC129994706, LOC129994707, LOC129994708, LOC129994709, LOC129994710, LOC129994711, LOC129994712, LOC129994713, LOC129994714, LOC129994715, LOC129994716, LOC129994717, LOC129994718, LOC129994719, LOC129994720, LOC129994721, LOC129994722, LOC129994723, LOC129994724, LOC129994725, LOC129994726, LOC129994727, LOC129994728, LOC129994729, LOC129994730, LOC129994731, LOC129994732, LOC129994733, LOC129994734, LOC129994735, LOC129994736, LOC129994737, LOC129994738, LOC129994739, MACROH2A1, MIR1289-2, MIR3661, MIR5692C1, MIR874, MYOT, NEUROG1, NME5, PCBD2, PITX1, PITX1-AS1, PKD2L2, PKD2L2-DT, PPP2CA, PPP2CA-DT, SAR1B, SEC24A, SKP1, SLC25A48, SLC25A48-AS1, SMAD5, SMAD5-AS1, SMIM32, SPOCK1, TCF7, TGFBI, TIFAB, TRPC7, TRPC7-AS1, TRPC7-AS2, TXNDC15, UBE2B, VDAC1, VTRNA2-1, WNT8A, WSPAR, FAM13B, FAM13B-AS1, FAM53C, FSTL4, GFRA3, HNRNPA0, IL9, JADE2, KDM3B, KIF20A, KLHL3, LECT2, LINC01843, LINC02900, LINC02999, LOC100128966, LOC105379183, LOC105379192, LOC107986453, LOC110121118, LOC110121271, LOC111500310, LOC112997559, LOC112997560, LOC112997561, LOC121099701, LOC121099702, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC129389363, LOC129389364, LOC129389365, LOC129389366, LOC129389367, LOC129389368, LOC129389369, LOC129389370, LOC129389371, LOC129389372, LOC129389373, LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129994618, LOC129994619, LOC129994620, LOC129994621, LOC129994622, LOC129994623, LOC129994624, LOC129994625 | | See 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:
- Chr5:137203568
- GRCh38:
- Chr5:137867879
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137203603
- GRCh38:
- Chr5:137867914
| MYOT, PKD2L2-DT | | Limb-Girdle Muscular Dystrophy, Dominant, not provided, Myofibrillar myopathy 3
| Benign/Likely benign (May 29, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137203621
- GRCh38:
- Chr5:137867932
| PKD2L2-DT, MYOT | | Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3
| Benign/Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205815-137205816
- GRCh38:
- Chr5:137870126-137870127
| PKD2L2-DT, MYOT | | not provided | Likely benign (Jan 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205816
- GRCh38:
- Chr5:137870127
| MYOT, PKD2L2-DT | | not provided | Benign (Aug 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205830
- GRCh38:
- Chr5:137870141
| MYOT, PKD2L2-DT | | not provided | Benign (Oct 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205956
- GRCh38:
- Chr5:137870267
| MYOT, PKD2L2-DT | | not provided | Benign (Jul 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205977-137205978
- GRCh38:
- Chr5:137870288-137870289
| MYOT, PKD2L2-DT | | not provided | Benign (Aug 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205977-137205978
- GRCh38:
- Chr5:137870288-137870289
| MYOT, PKD2L2-DT | | not provided | Benign (Aug 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205977-137205978
- GRCh38:
- Chr5:137870288-137870289
| MYOT, PKD2L2-DT | | not provided | Benign (Aug 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205977-137205978
- GRCh38:
- Chr5:137870288-137870289
| MYOT, PKD2L2-DT | | not provided | Benign (Aug 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205977-137205978
- GRCh38:
- Chr5:137870288-137870289
| MYOT, PKD2L2-DT | | not provided | Likely benign (Dec 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137205978-137205983
- GRCh38:
- Chr5:137870289-137870294
| PKD2L2-DT, MYOT | | not provided | Benign (Nov 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206176
- GRCh38:
- Chr5:137870487
| PKD2L2-DT, MYOT | | Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3
| Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206251
- GRCh38:
- Chr5:137870562
| MYOT, PKD2L2-DT | | Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3
| Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206341
- GRCh38:
- Chr5:137870652
| MYOT, PKD2L2-DT | M1L | Myofibrillar myopathy 3 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206356
- GRCh38:
- Chr5:137870667
| MYOT, PKD2L2-DT | R6C | Myofibrillar myopathy 3 | Uncertain significance (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206357
- GRCh38:
- Chr5:137870668
| MYOT, PKD2L2-DT | R6H | not provided, Myofibrillar myopathy 3 | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206374
- GRCh38:
- Chr5:137870685
| MYOT, PKD2L2-DT | Q12E | not provided | Uncertain significance (Aug 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206388
- GRCh38:
- Chr5:137870699
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206389
- GRCh38:
- Chr5:137870700
| MYOT, PKD2L2-DT | C17S | Myofibrillar myopathy 3 | Uncertain significance (Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206389
- GRCh38:
- Chr5:137870700
| MYOT, PKD2L2-DT | C17R | Myofibrillar myopathy 3 | Likely benign (Oct 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206390
- GRCh38:
- Chr5:137870701
| MYOT, PKD2L2-DT | C17Y | Myofibrillar myopathy 3 | Uncertain significance (Nov 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206393
- GRCh38:
- Chr5:137870704
| MYOT, PKD2L2-DT | G18V | Myofibrillar myopathy 3 | Uncertain significance (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206401
- GRCh38:
- Chr5:137870712
| MYOT, PKD2L2-DT | | not provided, Myofibrillar myopathy 3 | Conflicting interpretations of pathogenicity (Feb 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206407
- GRCh38:
- Chr5:137870718
| PKD2L2-DT, MYOT | P23T | Myofibrillar myopathy 3 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206407
- GRCh38:
- Chr5:137870718
| MYOT, PKD2L2-DT | P23S | Myofibrillar myopathy 3, not provided | Uncertain significance (Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206416
- GRCh38:
- Chr5:137870727
| MYOT, PKD2L2-DT | P26S | Inborn genetic diseases | Uncertain significance (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206423
- GRCh38:
- Chr5:137870734
| MYOT, PKD2L2-DT | T28I | Myofibrillar myopathy 3 | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206426
- GRCh38:
- Chr5:137870737
| MYOT, PKD2L2-DT | S29F | Myofibrillar myopathy 3 | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206436
- GRCh38:
- Chr5:137870747
| MYOT, PKD2L2-DT | | not provided, Myofibrillar myopathy 3 | Conflicting interpretations of pathogenicity (May 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206438
- GRCh38:
- Chr5:137870749
| MYOT, PKD2L2-DT | S33I | Myofibrillar myopathy 3 | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206445-137206448
- GRCh38:
- Chr5:137870756-137870759
| MYOT, PKD2L2-DT | K36fs | not provided, Myofibrillar myopathy 3 | Uncertain significance (May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206456
- GRCh38:
- Chr5:137870767
| MYOT, PKD2L2-DT | S39F | not provided, Myofibrillar myopathy 3 | Pathogenic/Likely pathogenic (Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206458
- GRCh38:
- Chr5:137870769
| MYOT, PKD2L2-DT | I40V | Myofibrillar myopathy 3 | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206460
- GRCh38:
- Chr5:137870771
| MYOT, PKD2L2-DT | | not provided, not specified, Myofibrillar myopathy 3
| Conflicting interpretations of pathogenicity (Aug 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206462
- GRCh38:
- Chr5:137870773
| MYOT, PKD2L2-DT | I41T | not provided, Myofibrillar myopathy 3 | Uncertain significance (Aug 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206469
- GRCh38:
- Chr5:137870780
| MYOT, PKD2L2-DT | Q43H | not provided | Uncertain significance (Dec 4, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206474
- GRCh38:
- Chr5:137870785
| MYOT, PKD2L2-DT | R45H | Myofibrillar myopathy 3 | Uncertain significance (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206474
- GRCh38:
- Chr5:137870785
| MYOT, PKD2L2-DT | R45L | Myofibrillar myopathy 3 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206477
- GRCh38:
- Chr5:137870788
| MYOT, PKD2L2-DT | Q46R | Myofibrillar myopathy 3 | Uncertain significance (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206477
- GRCh38:
- Chr5:137870788
| MYOT, PKD2L2-DT | Q46L | Myofibrillar myopathy 3 | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206483
- GRCh38:
- Chr5:137870794
| PKD2L2-DT, MYOT | T48I | not provided, Myofibrillar myopathy 3 | Uncertain significance (Oct 9, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206485
- GRCh38:
- Chr5:137870796
| MYOT, PKD2L2-DT | E49Q | Myofibrillar myopathy 3 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206487
- GRCh38:
- Chr5:137870798
| MYOT, PKD2L2-DT | E49D | Myofibrillar myopathy 3 | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206489
- GRCh38:
- Chr5:137870800
| MYOT, PKD2L2-DT | | Limb-Girdle Muscular Dystrophy, Dominant, not specified, not provided, Myofibrillar myopathy 3 | Benign/Likely benign (Aug 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206491
- GRCh38:
- Chr5:137870802
| MYOT, PKD2L2-DT | R51G | Myofibrillar myopathy 3, not provided | Uncertain significance (Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206496
- GRCh38:
- Chr5:137870807
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206501-137206503
- GRCh38:
- Chr5:137870812-137870814
| PKD2L2-DT, MYOT | S56del | not provided | Uncertain significance (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206504
- GRCh38:
- Chr5:137870815
| MYOT, PKD2L2-DT | S55F | not provided, Myofibrillar myopathy 3, Progressive distal muscle weakness, Progressive proximal muscle weakness, Distal lower limb muscle weakness, Muscle fiber inclusion bodies, Fatty replacement of skeletal muscle, Distal amyotrophy, Urinary bladder sphincter dysfunction, Lower limb pain, Foot dorsiflexor weaknessEMG: myopathic abnormalities, ...see more | Pathogenic/Likely pathogenic (Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206507
- GRCh38:
- Chr5:137870818
| MYOT, PKD2L2-DT | S56L | Myofibrillar myopathy 3 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206510
- GRCh38:
- Chr5:137870821
| PKD2L2-DT, MYOT | T57fs | not provided | Uncertain significance (Jan 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206510
- GRCh38:
- Chr5:137870821
| MYOT, PKD2L2-DT | T57I | not provided, Myofibrillar myopathy 3 | Pathogenic (Jan 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206519
- GRCh38:
- Chr5:137870830
| MYOT, PKD2L2-DT | S60F | MYOT-related condition, not provided, Myofibrillar myopathy 3
| Pathogenic/Likely pathogenic (Jul 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206519
- GRCh38:
- Chr5:137870830
| MYOT, PKD2L2-DT | S60C | not provided, Myofibrillar myopathy 3 | Pathogenic (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206522
- GRCh38:
- Chr5:137870833
| MYOT, PKD2L2-DT | H61P | not provided, Myofibrillar myopathy 3 | Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206531
- GRCh38:
- Chr5:137870842
| MYOT, PKD2L2-DT | M64K | Myofibrillar myopathy 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206560
- GRCh38:
- Chr5:137870871
| MYOT, PKD2L2-DT | Q74K | Myofibrillar myopathy 3, not specified, not provided
| Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206560
- GRCh38:
- Chr5:137870871
| PKD2L2-DT, MYOT | | Myofibrillar myopathy 3, not specified, not provided
| Benign (Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206565
- GRCh38:
- Chr5:137870876
| MYOT, PKD2L2-DT | Q75H | not provided | Uncertain significance (Mar 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206572
- GRCh38:
- Chr5:137870883
| MYOT, PKD2L2-DT | G78S | Inborn genetic diseases, not provided, Myofibrillar myopathy 3
| Uncertain significance (Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206579
- GRCh38:
- Chr5:137870890
| MYOT, PKD2L2-DT | N80S | Myofibrillar myopathy 3 | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206580
- GRCh38:
- Chr5:137870891
| PKD2L2-DT, MYOT | | not provided, not specified, Myofibrillar myopathy 3
| Benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206589
- GRCh38:
- Chr5:137870900
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jun 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206592
- GRCh38:
- Chr5:137870903
| MYOT, PKD2L2-DT | R84S | Myofibrillar myopathy 3 | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206592
- GRCh38:
- Chr5:137870903
| MYOT, PKD2L2-DT | | not provided, Myofibrillar myopathy 3 | Conflicting interpretations of pathogenicity (Jan 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206595
- GRCh38:
- Chr5:137870906
| MYOT, PKD2L2-DT | | not provided, Myofibrillar myopathy 3 | Conflicting interpretations of pathogenicity (Jan 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206597
- GRCh38:
- Chr5:137870908
| MYOT, PKD2L2-DT | T86K | Myofibrillar myopathy 3, not provided | Uncertain significance (Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206620
- GRCh38:
- Chr5:137870931
| MYOT, PKD2L2-DT | A94T | not provided | Uncertain significance (Jun 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206622
- GRCh38:
- Chr5:137870933
| MYOT, PKD2L2-DT | | not provided | Uncertain significance (Aug 29, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206624
- GRCh38:
- Chr5:137870935
| MYOT, PKD2L2-DT | S95I | Myofibrillar myopathy 3 | Pathogenic (Apr 27, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr5:137206638
- GRCh38:
- Chr5:137870949
| MYOT, PKD2L2-DT | I100V | Myofibrillar myopathy 3, not provided | Uncertain significance (Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206654
- GRCh38:
- Chr5:137870965
| PKD2L2-DT, MYOT | P105L | not specified | Uncertain significance (Dec 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206658
- GRCh38:
- Chr5:137870969
| MYOT, PKD2L2-DT | D106E | Myofibrillar myopathy 3 | Uncertain significance (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206658
- GRCh38:
- Chr5:137870969
| PKD2L2-DT, MYOT | | Myofibrillar myopathy 3 | Likely benign (Mar 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206663
- GRCh38:
- Chr5:137870974
| PKD2L2-DT, MYOT | N108T | Inborn genetic diseases, not provided, Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3, Heart failure
| Conflicting interpretations of pathogenicity (Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206675
- GRCh38:
- Chr5:137870986
| MYOT, PKD2L2-DT | I112N | Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 3
| Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206682
- GRCh38:
- Chr5:137870993
| MYOT, PKD2L2-DT | | not provided, Myofibrillar myopathy 3 | Conflicting interpretations of pathogenicity (Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206683
- GRCh38:
- Chr5:137870994
| MYOT, PKD2L2-DT | A115S | Limb-Girdle Muscular Dystrophy, Dominant, not specified, Myofibrillar Myopathy, Dominant, not provided, Inborn genetic diseases, Myofibrillar myopathy 3
| Conflicting interpretations of pathogenicity (Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:137206683
- GRCh38:
- Chr5:137870994
| MYOT, PKD2L2-DT | | not specified, Myofibrillar myopathy 3, not provided
| Benign/Likely benign (Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206688
- GRCh38:
- Chr5:137870999
| MYOT, PKD2L2-DT | M1I, M116I | Myofibrillar myopathy 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206709
- GRCh38:
- Chr5:137871020
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206924
- GRCh38:
- Chr5:137871235
| MYOT, PKD2L2-DT | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211235
- GRCh38:
- Chr5:137875546
| MYOT, PKD2L2-DT | | not provided | Benign (Jul 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211268
- GRCh38:
- Chr5:137875579
| MYOT, PKD2L2-DT | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211499
- GRCh38:
- Chr5:137875810
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211503
- GRCh38:
- Chr5:137875814
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jun 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211520
- GRCh38:
- Chr5:137875831
| MYOT, PKD2L2-DT | Y120C, Y5C | Myofibrillar myopathy 3 | Likely benign (Oct 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211525
- GRCh38:
- Chr5:137875836
| MYOT, PKD2L2-DT | Q7*, Q122* | Myofibrillar myopathy 3 | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211533
- GRCh38:
- Chr5:137875844
| MYOT, PKD2L2-DT | A125fs, A10fs | not provided, Myofibrillar myopathy 3 | Uncertain significance (Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137211542
- GRCh38:
- Chr5:137875853
| MYOT, PKD2L2-DT | | not provided | Likely benign (Feb 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211546
- GRCh38:
- Chr5:137875857
| MYOT, PKD2L2-DT | I129V, I14V | Myofibrillar myopathy 3 | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211548
- GRCh38:
- Chr5:137875859
| MYOT, PKD2L2-DT | I129M, I14M | Myofibrillar myopathy 3 | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211552
- GRCh38:
- Chr5:137875863
| MYOT, PKD2L2-DT | A131S, A16S | Myofibrillar myopathy 3 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |