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Items: 1 to 100 of 673

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:105955289-155551397
GRCh38:
Chr5:106619588-156124387
ABLIM3, ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ADRB2, AFAP1L1, AFF4, AFF4-DT, ALDH7A1, ANKHD1, ANKHD1-DT, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARL14EPL, ARSI, ATG12, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CARMN, CATSPER3, CCDC112, CCDC192, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDO1, CDX1, CEP120, CHSY3, CLMAT3, CNOT8, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTB-1I21.1, CTB-99A3.1, CTNNA1, CTNNA1-AS1, CTXN3, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DMXL1, DMXL1-DT, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, EPIST, ETF1, FAM114A2, FAM13B, FAM13B-AS1, FAM170A, FAM53C, FAT2, FAXDC2, FBN2, FBXL17, FBXO38, FBXO38-DT, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GEMIN5, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRPEL2-AS1, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, ISOC1, JADE2, JAKMIP2, JAKMIP2-AS1, KCNN2, KCTD16, KDM3B, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LEAP2, LECT2, LINC00992, LINC01023, LINC01170, LINC01470, LINC01843, LINC01844, LINC01848, LINC01861, LINC01933, LINC01950, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINC02863, LINC02900, LINC02999, LINCADL, LMNB1, LMNB1-DT, LOC100128966, LOC100652758, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929719, LOC102467216, LOC102467217, LOC102467226, LOC105378230, LOC105379157, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108228201, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121070, LOC110121082, LOC110121084, LOC110121107, LOC110121118, LOC110121171, LOC110121173, LOC110121194, LOC110121202, LOC110121271, LOC110121303, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC112997570, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC116158526, LOC119407423, LOC120285837, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC121725217, LOC121740630, LOC121740631, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, MIR1289-2, MIR1294, MIR1303, MIR143, MIR145, MIR3141, MIR3655, MIR3661, MIR378A, MIR378H, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR5197, MIR548F3, MIR5692C1, MIR5706, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MRPL22, MYOT, MYOZ3, MYOZ3-AS1, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NREP, NREP-AS1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PITX1-AS1, PJA2, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPIC, PPP2CA, PPP2CA-DT, PPP2R2B, PPP2R2B-IT1, PRDM6, PRDM6-AS1, PRELID2, PROB1, PRR16, PRRC1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, REEP5, RELL2, RNF14, RPS14, SAP30L, SAP30L-AS1, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SEPTIN8, SGCD, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC25A48-AS1, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNCAIP, SNHG4, SNORA13, SNORA74A, SNORA74D, SNORD63, SNORD63B, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, SRFBP1, SRP19, STARD4, STARD4-AS1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TICAM2, TICAM2-AS1, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TRPC7-AS1, TRPC7-AS2, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, WSPAR, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF474-AS1, ZNF475, ZNF608, LOC129994703, LOC129994704, LOC129994705, LOC129994706, LOC129994707, LOC129994708, LOC129994709, LOC129994710, LOC129994711, LOC129994712, LOC129994713, LOC129994714, LOC129994715, LOC129994716, LOC129994717, LOC129994718, LOC129994719, LOC129994720, LOC129994721, LOC129994722, LOC129994723, LOC129994724, LOC129994725, LOC129994726, LOC129994727, LOC129994728, LOC129994729, LOC129994730, LOC129994731, LOC129994732, LOC129994733, LOC129994734, LOC129994735, LOC129994736, LOC129994737, LOC129994738, LOC129994739, LOC129994740, LOC129994741, LOC129994742, LOC129994743, LOC129994744, LOC129994745, LOC129994746, LOC129994747, LOC129994748, LOC129994749, LOC129994750, LOC129994751, LOC129994752, LOC129994753, LOC129994754, LOC129994755, LOC129994756, LOC129994757, LOC129994758, LOC129994759, LOC129994760, LOC129994761, LOC129994762, LOC129994763, LOC129994764, LOC129994765, LOC129994766, LOC129994767, LOC129994768, LOC129994769, LOC129994770, LOC129994771, LOC129994772, LOC129994773, LOC129994774, LOC129994775, LOC129994776, LOC129994777, LOC129994778, LOC129994779, LOC129994780, LOC129994781, LOC129994782, LOC129994783, LOC129994784, LOC129994785, LOC129994786, LOC129994787, LOC129994788, LOC129994789, LOC129994790, LOC129994791, LOC129994792, LOC129994793, LOC129994794, LOC129994795, LOC129994796, LOC129994797, LOC129994798, LOC129994799, LOC129994800, LOC129994801, LOC129994802, LOC129994803, LOC129994804, LOC129994805, LOC129994806, LOC129994807, LOC129994808, LOC129994809, LOC129994810, LOC129994811, LOC129994812, LOC129994813, LOC129994814, LOC129994815, LOC129994816, LOC129994817, LOC129994818, LOC129994819, LOC129994820, LOC129994821, LOC129994822, LOC129994823, LOC129994824, LOC129994825, LOC129994826, LOC129994827, LOC129994828, LOC129994829, LOC129994830, LOC129994831, LOC129994832, LOC129994833, LOC129994834, LOC129994835, LOC129994836, LOC129994837, LOC129994838, LOC129994839, LOC129994840, LOC129994841, LOC129994842, LOC129994843, LOC129994844, LOC129994845, LOC129994846, LOC129994847, LOC129994848, LOC129994849, LOC129994850, LOC129994851, LOC129994852, LOC129994853, LOC129994854, LOC129994855, LOC129994856, LOC129994857, LOC129994858, LOC129994859, LOC129994860, LOC129994861, LOC129994862, LOC129994863, LOC129994864, LOC129994865, LOC129994866, LOC129994867, LOC129994868, LOC129994869, LOC129994870, LOC129994871, LOC129994872, LOC129994873, LOC129994874, LOC129994875, LOC129994876, LOC129994877, LOC129994878, LOC129994879, LOC129994880, LOC129994881, LOC129994882, LOC129994883, LOC129994884, LOC129994885, LOC129994886, LOC129994887, LOC129994888, LOC129994889, LOC129994890, LOC129994891, LOC129994892, LOC129994893, LOC129994894, LOC129994895, LOC129994896, LOC129994897, LOC129994898, LOC129994899, LOC129994900, LOC129994901, LOC129994902, LOC129994903, LOC129994904, LOC129994905, LOC129994906, LOC129994907, LOC129994908, LOC129994909, LOC129994910, LOC129994911, LOC129994912, LOC129994913, LOC129994914, LOC129994915, LOC129994916, LOC129994917, LOC129994918, LOC129994919, LOC129994920, LOC129994921, LOC129994922, LOC129994923, LOC129994924, LOC129994925, LOC129994926, LOC129994927, LOC129994928, LOC129994929, LOC129994930, LOC129994931, LOC129994932, LOC129994933, LOC129994934, LOC129994935, LOC129994936, LOC129994937, LOC129994938, LOC129994939, LOC129994940, LOC129994941, LOC129994942, LOC129994943, LOC129994944, LOC129994945, LOC129994946, LOC129994947, LOC129994948, LOC129994949, LOC129994950, LOC129994951, LOC129994952, LOC129994953, LOC129994954, LOC129994955, LOC129994956, LOC129994957, LOC129994958, LOC129994959, LOC129994960, LOC129994961, LOC129994962, LOC129994963, LOC129994964, LOC129994965, LOC129994966, LOC129994967, LOC129994968, LOC129994969, LOC129994970, LOC129994971, LOC129994972, LOC129994973, LOC129994974, LOC129994975, LOC129994976, LOC129994977, LOC129994978, LOC129994979, LOC129994980, LOC129994981, LOC129994982, LOC129994983, LOC129994984, LOC129994985, LOC129994986, LOC129994987, LOC129994988, LOC129994989, LOC129994990, LOC129994991, LOC129994992, LOC129994993, LOC129994994, LOC129994995, LOC129994996, LOC129994997, LOC129994998, LOC129994999, LOC129995000, LOC129995001, LOC129995002, LOC129995003, LOC129995004, LOC129995005, LOC129995006, LOC129995007, LOC129995008, LOC129995009, LOC129995010, LOC129995011, LOC129995012, LOC129995013, LOC129995014, LOC129995015, LOC129995016, LOC129995017, LOC129995018, LOC129995019, LOC129995020, LOC129995021, LOC129995022, LOC129995023, LOC129995024, LOC129995025, LOC129995026, LOC129995027, LOC129995028, LOC129995029, LOC129995030, LOC129995031, LOC129995032, LOC129995033, LOC129995034, LOC129995035, LOC129995036, LOC129995037, LOC129995038, LOC129995039, LOC129995040, LOC129995041, LOC129995042, LOC129995043, LOC129995044, LOC129995045, LOC129995046, LOC129995047, LOC129995048, LOC129995049, LOC129995050, LOC129995051, LOC129995052, LOC129995053, LOC129995054, LOC129995055, LOC129995056, LOC129995057, LOC129995058, LOC129995059, LOC129995060, LOC129995061, LOC129995062, LOC129995063, LOC129995064, LOC129995065, LOC129995066, LOC129995067, LOC129995068, LOC129995069, LOC129995070, LOC129995071, LOC129995072, LOC129995073, LOC129995074, LOC129995075, LOC129995076, LOC129995077, LOC129995078, LOC129995079, LOC129995080, LOC129995081, LOC129995082, LOC129995083, LOC129995084, LOC129995085, LOC129995086, LOC129995087, LOC129995088, LOC129995089, LOC129995090, LOC129995091, LOC129995092, LOC129995093, LOC129995094, LOC129995095, LOC129995096, LOC129995097, LOC129995098, LOC129995099, LOC129995100, LOC129995101, LOC131768270, LOC132089162, LOC132089163, LOC132089164, LOC132089165, LOC132089166, LOC132089167, LOC132089168, LOC132089169, LOC132089170, LOC132089171, LOC132089172, LOC132089173, LOC132089174, LOC132089175, LOC132089176, LOC132089177, LOC132089178, LOC132089179, LOC132089180, LOC132089181, LOC132089182, LOC132089183, LOC132089184, LOC132089185, LOC132089186, LOC132089187, LOC132089188, LOC132089189, LOC132089190, LOC132089191, LOC132089192, LOC132089193, LOC132089194, LOC132089195, LOC132089196, LOC132089197, LOC132089198, LOC132089199, LOC132089200, LOC132089201, LOC132089202, LOC132089203, LOC132089204, LOC132089205, LOC132089206, LOC132089207, LOC132089208, LOC132089209, LOC132089210, LOC132089211, LOC132089212, LOC132089213, LOC132089214, LOC132089215, LOC132089216, LOC132089217, LOC132089218, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132089223, LOC132090732, LOC132090733, LOC132090734, LOC132090735, LOC132090736, LOC132090737, LOC132090738, LOC132090739, LOC132090740, LOC132090741, LOC132090742, LOC132090743, LOC132090744, LOC132090745, LOC132090746, LOC132090747, LOC132205961, LOC132205962, LOC285638, LOX, LRRTM2, LVRN, LYRM7, MACROH2A1, MALINC1, MAN2A1, MAN2A1-DT, MARCHF3, MARCOL, MATR3, MCC, MEGF10, MEIKIN, MFAP3, MGC32805, MINAR2, MIR12130, MIR1244-2, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC126807549, LOC126807550, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC127814297, LOC128772274, LOC129389338, LOC129389339, LOC129389340, LOC129389341, LOC129389342, LOC129389343, LOC129389344, LOC129389345, LOC129389346, LOC129389347, LOC129389348, LOC129389349, LOC129389350, LOC129389351, LOC129389352, LOC129389353, LOC129389354, LOC129389355, LOC129389356, LOC129389357, LOC129389358, LOC129389359, LOC129389360, LOC129389361, LOC129389362, LOC129389363, LOC129389364, LOC129389365, LOC129389366, LOC129389367, LOC129389368, LOC129389369, LOC129389370, LOC129389371, LOC129389372, LOC129389373, LOC129389374, LOC129389375, LOC129389376, LOC129389377, LOC129389378, LOC129389379, LOC129389380, LOC129389381, LOC129389382, LOC129389383, LOC129389384, LOC129389385, LOC129389386, LOC129389387, LOC129389388, LOC129389389, LOC129389390, LOC129389391, LOC129389392, LOC129389393, LOC129389394, LOC129389395, LOC129389396, LOC129389397, LOC129389398, LOC129389399, LOC129389400, LOC129389401, LOC129994308, LOC129994309, LOC129994310, LOC129994311, LOC129994312, LOC129994313, LOC129994314, LOC129994315, LOC129994316, LOC129994317, LOC129994318, LOC129994319, LOC129994320, LOC129994321, LOC129994322, LOC129994323, LOC129994324, LOC129994325, LOC129994326, LOC129994327, LOC129994328, LOC129994329, LOC129994330, LOC129994331, LOC129994332, LOC129994333, LOC129994334, LOC129994335, LOC129994336, LOC129994337, LOC129994338, LOC129994339, LOC129994340, LOC129994341, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC129994346, LOC129994347, LOC129994348, LOC129994349, LOC129994350, LOC129994351, LOC129994352, LOC129994353, LOC129994354, LOC129994355, LOC129994356, LOC129994357, LOC129994358, LOC129994359, LOC129994360, LOC129994361, LOC129994362, LOC129994363, LOC129994364, LOC129994365, LOC129994366, LOC129994367, LOC129994368, LOC129994369, LOC129994370, LOC129994371, LOC129994372, LOC129994373, LOC129994374, LOC129994375, LOC129994376, LOC129994377, LOC129994378, LOC129994379, LOC129994380, LOC129994381, LOC129994382, LOC129994383, LOC129994384, LOC129994385, LOC129994386, LOC129994387, LOC129994388, LOC129994389, LOC129994390, LOC129994391, LOC129994392, LOC129994393, LOC129994394, LOC129994395, LOC129994396, LOC129994397, LOC129994398, LOC129994399, LOC129994400, LOC129994401, LOC129994402, LOC129994403, LOC129994404, LOC129994405, LOC129994406, LOC129994407, LOC129994408, LOC129994409, LOC129994410, LOC129994411, LOC129994412, LOC129994413, LOC129994414, LOC129994415, LOC129994416, LOC129994417, LOC129994418, LOC129994419, LOC129994420, LOC129994421, LOC129994422, LOC129994423, LOC129994424, LOC129994425, LOC129994426, LOC129994427, LOC129994428, LOC129994429, LOC129994430, LOC129994431, LOC129994432, LOC129994433, LOC129994434, LOC129994435, LOC129994436, LOC129994437, LOC129994438, LOC129994439, LOC129994440, LOC129994441, LOC129994442, LOC129994443, LOC129994444, LOC129994445, LOC129994446, LOC129994447, LOC129994448, LOC129994449, LOC129994450, LOC129994451, LOC129994452, LOC129994453, LOC129994454, LOC129994455, LOC129994456, LOC129994457, LOC129994458, LOC129994459, LOC129994460, LOC129994461, LOC129994462, LOC129994463, LOC129994464, LOC129994465, LOC129994466, LOC129994467, LOC129994468, LOC129994469, LOC129994470, LOC129994471, LOC129994472, LOC129994473, LOC129994474, LOC129994475, LOC129994476, LOC129994477, LOC129994478, LOC129994479, LOC129994480, LOC129994481, LOC129994482, LOC129994483, LOC129994484, LOC129994485, LOC129994486, LOC129994487, LOC129994488, LOC129994489, LOC129994490, LOC129994491, LOC129994492, LOC129994493, LOC129994494, LOC129994495, LOC129994496, LOC129994497, LOC129994498, LOC129994499, LOC129994500, LOC129994501, LOC129994502, LOC129994503, LOC129994504, LOC129994505, LOC129994506, LOC129994507, LOC129994508, LOC129994509, LOC129994510, LOC129994511, LOC129994512, LOC129994513, LOC129994514, LOC129994515, LOC129994516, LOC129994517, LOC129994518, LOC129994519, LOC129994520, LOC129994521, LOC129994522, LOC129994523, LOC129994524, LOC129994525, LOC129994526, LOC129994527, LOC129994528, LOC129994529, LOC129994530, LOC129994531, LOC129994532, LOC129994533, LOC129994534, LOC129994535, LOC129994536, LOC129994537, LOC129994538, LOC129994539, LOC129994540, LOC129994541, LOC129994542, LOC129994543, LOC129994544, LOC129994545, LOC129994546, LOC129994547, LOC129994548, LOC129994549, LOC129994550, LOC129994551, LOC129994552, LOC129994553, LOC129994554, LOC129994555, LOC129994556, LOC129994557, LOC129994558, LOC129994559, LOC129994560, LOC129994561, LOC129994562, LOC129994563, LOC129994564, LOC129994565, LOC129994566, LOC129994567, LOC129994568, LOC129994569, LOC129994570, LOC129994571, LOC129994572, LOC129994573, LOC129994574, LOC129994575, LOC129994576, LOC129994577, LOC129994578, LOC129994579, LOC129994580, LOC129994581, LOC129994582, LOC129994583, LOC129994584, LOC129994585, LOC129994586, LOC129994587, LOC129994588, LOC129994589, LOC129994590, LOC129994591, LOC129994592, LOC129994593, LOC129994594, LOC129994595, LOC129994596, LOC129994597, LOC129994598, LOC129994599, LOC129994600, LOC129994601, LOC129994602, LOC129994603, LOC129994604, LOC129994605, LOC129994606, LOC129994607, LOC129994608, LOC129994609, LOC129994610, LOC129994611, LOC129994612, LOC129994613, LOC129994614, LOC129994615, LOC129994616, LOC129994617, LOC129994618, LOC129994619, LOC129994620, LOC129994621, LOC129994622, LOC129994623, LOC129994624, LOC129994625, LOC129994626, LOC129994627, LOC129994628, LOC129994629, LOC129994630, LOC129994631, LOC129994632, LOC129994633, LOC129994634, LOC129994635, LOC129994636, LOC129994637, LOC129994638, LOC129994639, LOC129994640, LOC129994641, LOC129994642, LOC129994643, LOC129994644, LOC129994645, LOC129994646, LOC129994647, LOC129994648, LOC129994649, LOC129994650, LOC129994651, LOC129994652, LOC129994653, LOC129994654, LOC129994655, LOC129994656, LOC129994657, LOC129994658, LOC129994659, LOC129994660, LOC129994661, LOC129994662, LOC129994663, LOC129994664, LOC129994665, LOC129994666, LOC129994667, LOC129994668, LOC129994669, LOC129994670, LOC129994671, LOC129994672, LOC129994673, LOC129994674, LOC129994675, LOC129994676, LOC129994677, LOC129994678, LOC129994679, LOC129994680, LOC129994681, LOC129994682, LOC129994683, LOC129994684, LOC129994685, LOC129994686, LOC129994687, LOC129994688, LOC129994689, LOC129994690, LOC129994691, LOC129994692, LOC129994693, LOC129994694, LOC129994695, LOC129994696, LOC129994697, LOC129994698, LOC129994699, LOC129994700, LOC129994701, LOC129994702
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr5:149094155-180699152
GRCh38:
Chr5:149714592-181272151
ADAM19, ADAMTS2, ADRA1B, ANXA6, ARL10, ARSI, ATOX1, ATOX1-AS1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CAMK2A, CANX, CBY3, CCDC69, CCNG1, CCNJL, CD74, CDHR2, CDX1, CLINT1, CLK4, CLMAT3, CLTB, CNOT6, CNOT8, COL23A1, CPEB4, CPLX2, CREBRF, CSF1R, CTC-338M12.4, CYFIP2, DBN1, DCTN4, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FABP6-AS1, FAF2, FAM114A2, FAM153A, FAM153B, FAM193B, FAM200C, FAT2, FAXDC2, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GFPT2, GLRA1, GM2A, GMCL2, GPRIN1, GPX3, GRIA1, GRK6, GRM6, HAND1, HAVCR1, HAVCR2, HEIH, HIGD2A, HK3, HMGXB3, HMMR, HMMR-AS1, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, IRGM, ITK, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, KIF4B, LARP1, LCP2, LINC00847, LINC01187, LINC01202, LINC01366, LINC01411, LINC01470, LINC01484, LINC01485, LINC01574, LINC01845, LINC01847, LINC01861, LINC01932, LINC01933, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02159, LINC02202, LINC02222, LINC02227, LINC02995, LINC03000, LMAN2, LOC100128059, LOC100128340, LOC100288254, LOC100289470, LOC129995240, LOC129995241, LOC129995242, LOC129995243, LOC129995244, LOC129995245, LOC129995246, LOC129995247, LOC129995248, LOC129995249, LOC129995250, LOC129995251, LOC129995252, LOC129995253, LOC129995254, LOC129995255, LOC129995256, LOC129995257, LOC129995258, LOC129995259, LOC129995260, LOC129995261, LOC129995262, LOC129995263, LOC129995264, LOC129995265, LOC129995266, LOC129995267, LOC129995268, LOC129995269, LOC129995270, LOC129995271, LOC129995272, LOC129995273, LOC129995274, LOC129995275, LOC129995276, LOC129995277, LOC129995278, LOC129995279, LOC129995280, LOC129995281, LOC129995282, LOC129995283, LOC129995284, LOC129995285, LOC129995286, LOC129995287, LOC129995288, LOC129995289, LOC129995290, LOC129995291, LOC129995292, LOC129995293, LOC129995294, LOC129995295, LOC129995296, LOC129995297, LOC129995298, LOC129995299, LOC129995300, LOC129995301, LOC129995302, LOC129995303, LOC129995304, LOC129995305, LOC129995306, LOC129995307, LOC129995308, LOC129995309, LOC129995310, LOC129995311, LOC129995312, LOC129995313, LOC129995314, LOC129995315, LOC129995316, LOC129995317, LOC129995318, LOC129995319, LOC129995320, LOC129995321, LOC129995322, LOC129995323, LOC129995324, LOC129995325, LOC129995326, LOC129995327, LOC129995328, LOC129995329, LOC129995330, LOC129995331, LOC129995332, LOC129995333, LOC129995334, LOC129995335, LOC129995336, LOC129995337, LOC129995338, LOC129995339, LOC129995340, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, LOC129995379, LOC129995380, LOC129995381, LOC129995382, LOC129995383, LOC129995384, LOC129995385, LOC129995386, LOC129995387, LOC129995388, LOC129995389, LOC129995390, LOC129995391, LOC129995392, LOC129995393, LOC129995394, LOC129995395, LOC129995396, LOC129995397, LOC129995398, LOC129995399, LOC129995400, LOC129995401, LOC129995402, LOC129995403, LOC129995404, LOC129995405, LOC129995406, LOC129995407, LOC129995408, LOC129995409, LOC129995410, LOC129995411, LOC129995412, LOC129995413, LOC129995414, LOC129995415, LOC129995416, LOC129995417, LOC129995418, LOC129995419, LOC129995420, LOC129995421, LOC129995422, LOC129995423, LOC129995424, LOC129995425, LOC129995426, LOC129995427, LOC129995428, LOC129995429, LOC129995430, LOC129995431, LOC129995432, LOC129995433, LOC129995434, LOC129995435, LOC129995436, LOC129995437, LOC129995438, LOC129995439, LOC129995440, LOC129995441, LOC129995442, LOC129995443, LOC129995444, LOC129995445, LOC129995446, LOC129995447, LOC129995448, LOC129995449, LOC129995450, LOC129995451, LOC129995452, LOC129995453, LOC129995454, LOC129995455, LOC129995456, LOC129995457, LOC129995458, LOC129995459, LOC129995460, LOC129995461, LOC129995462, LOC129995463, LOC129995464, LOC129995465, LOC129995466, LOC129995467, LOC129995468, LOC129995469, LOC129995470, LOC129995471, LOC129995472, LOC129995473, LOC129995474, LOC129995475, LOC129995476, LOC129995477, LOC129995478, LOC129995479, LOC129995480, LOC129995481, LOC129995482, LOC129995483, LOC129995484, LOC129995485, LOC129995486, LOC129995487, LOC129995488, LOC129995489, LOC129995490, LOC129995491, LOC129995492, LOC129995493, LOC129995494, LOC129995495, LOC129995496, LOC129995497, LOC129995498, LOC129995499, LOC129995500, LOC129995501, LOC129995502, LOC129995503, LOC129995504, LOC129995505, LOC129995506, LOC129995507, LOC129995508, LOC129995509, LOC129995510, LOC129995511, LOC129995512, LOC129995513, LOC129995514, LOC129995515, LOC129995516, 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, LOC132089224, LOC132089225, LOC132089226, LOC132089227, LOC132089228, LOC132089230, LOC132090739, LOC132090740, LOC132090741, LOC132090742, LOC132090743, LOC132090744, LOC132090745, LOC132090746, LOC132090747, LOC132090748, LOC132205961, LOC132205962, LOC285626, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MFAP3, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR1294, MIR1303, MIR146A, MIR218-2, MIR3141, MIR3142, MIR3142HG, MIR340, MIR378A, MIR378E, MIR378H, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR6499, MIR8056, MIR8089, MRNIP, MRNIP-DT, MRPL22, MSANTD5, MSX2, MXD3, MYOZ3, MYOZ3-AS1, N4BP3, NDST1, NDST1-AS1, NEURL1B, NHP2, NIPAL4, NIPAL4-DT, NKX2-5, NMUR2, NOP16, NPM1, NSD1, NSG2, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDE6A, PDGFRB, PDLIM7, PFN3, PHYKPL, PPARGC1B, PPP1R2B, PRELID1, PROP1, PRR7, PRR7-AS1, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RBM22, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPL26L1-AS1, RPS14, RUFY1, RUFY1-AS1, SAP30L, SAP30L-AS1, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC26A2, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC6A7, SLIT3, SLIT3-AS1, SLIT3-AS2, SLU7, SMIM23, SMIM3, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SOX30, SPARC, SPDL1, SQSTM1, STC2, STK10, SYNPO, TBC1D9B, TCOF1, TENM2, TENM2-AS1, THG1L, THOC3, THOC3-AS1, TIGD6, TIMD4, TLX3, TMED9, TNIP1, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF454-DT, ZNF879, LOC100502572, LOC100652758, LOC100996385, LOC101927908, LOC101928093, LOC102546299, LOC102724551, LOC105377730, LOC105377753, LOC105377763, LOC105378230, LOC105980006, LOC105980008, LOC108004526, LOC108228201, LOC109279841, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111429606, LOC111500319, LOC111556140, LOC111828524, LOC112997568, LOC112997569, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158526, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099710, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740630, LOC121740631, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC123575609, LOC123575610, LOC123575611, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC126807580, LOC126807581, LOC126807582, LOC126807583, LOC126807584, LOC126807585, LOC126807586, LOC126807587, LOC126807588, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598, LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LOC128772274, LOC128966623, LOC129389395, LOC129389396, LOC129389397, LOC129389398, LOC129389399, LOC129389400, LOC129389401, LOC129389402, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129389412, LOC129389413, LOC129389414, LOC129389415, LOC129389416, LOC129389417, LOC129389418, LOC129389419, LOC129389420, LOC129389421, LOC129389422, LOC129994966, LOC129994967, LOC129994968, LOC129994969, LOC129994970, LOC129994971, LOC129994972, LOC129994973, LOC129994974, LOC129994975, LOC129994976, LOC129994977, LOC129994978, LOC129994979, LOC129994980, LOC129994981, LOC129994982, LOC129994983, LOC129994984, LOC129994985, LOC129994986, LOC129994987, LOC129994988, LOC129994989, LOC129994990, LOC129994991, LOC129994992, LOC129994993, LOC129994994, LOC129994995, LOC129994996, LOC129994997, LOC129994998, LOC129994999, LOC129995000, LOC129995001, LOC129995002, LOC129995003, LOC129995004, LOC129995005, LOC129995006, LOC129995007, LOC129995008, LOC129995009, LOC129995010, LOC129995011, LOC129995012, LOC129995013, LOC129995014, LOC129995015, LOC129995016, LOC129995017, LOC129995018, LOC129995019, LOC129995020, LOC129995021, LOC129995022, LOC129995023, LOC129995024, LOC129995025, LOC129995026, LOC129995027, LOC129995028, LOC129995029, LOC129995030, LOC129995031, LOC129995032, LOC129995033, LOC129995034, LOC129995035, LOC129995036, LOC129995037, LOC129995038, LOC129995039, LOC129995040, LOC129995041, LOC129995042, LOC129995043, LOC129995044, LOC129995045, LOC129995046, LOC129995047, LOC129995048, LOC129995049, LOC129995050, LOC129995051, LOC129995052, LOC129995053, LOC129995054, LOC129995055, LOC129995056, LOC129995057, LOC129995058, LOC129995059, LOC129995060, LOC129995061, LOC129995062, LOC129995063, LOC129995064, LOC129995065, LOC129995066, LOC129995067, LOC129995068, LOC129995069, LOC129995070, LOC129995071, LOC129995072, LOC129995073, LOC129995074, LOC129995075, LOC129995076, LOC129995077, LOC129995078, LOC129995079, LOC129995080, LOC129995081, LOC129995082, LOC129995083, LOC129995084, LOC129995085, LOC129995086, LOC129995087, LOC129995088, LOC129995089, LOC129995090, LOC129995091, LOC129995092, LOC129995093, LOC129995094, LOC129995095, LOC129995096, LOC129995097, LOC129995098, LOC129995099, LOC129995100, LOC129995101, LOC129995102, LOC129995103, LOC129995104, LOC129995105, LOC129995106, LOC129995107, LOC129995108, LOC129995109, LOC129995110, LOC129995111, LOC129995112, LOC129995113, LOC129995114, LOC129995115, LOC129995116, LOC129995117, LOC129995118, LOC129995119, LOC129995120, LOC129995121, LOC129995122, LOC129995123, LOC129995124, LOC129995125, LOC129995126, LOC129995127, LOC129995128, LOC129995129, LOC129995130, LOC129995131, LOC129995132, LOC129995133, LOC129995134, LOC129995135, LOC129995136, LOC129995137, LOC129995138, LOC129995139, LOC129995140, LOC129995141, LOC129995142, LOC129995143, LOC129995144, LOC129995145, LOC129995146, LOC129995147, LOC129995148, LOC129995149, LOC129995150, LOC129995151, LOC129995152, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC129995205, LOC129995206, LOC129995207, LOC129995208, LOC129995209, LOC129995210, LOC129995211, LOC129995212, LOC129995213, LOC129995214, LOC129995215, LOC129995216, LOC129995217, LOC129995218, LOC129995219, LOC129995220, LOC129995221, LOC129995222, LOC129995223, LOC129995224, LOC129995225, LOC129995226, LOC129995227, LOC129995228, LOC129995229, LOC129995230, LOC129995231, LOC129995232, LOC129995233, LOC129995234, LOC129995235, LOC129995236, LOC129995237, LOC129995238, LOC129995239
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr5:151823430-165531397
GRCh38:
Chr5:152443869-166104392
LOC129995100, LOC129995101, LOC129995102, LOC129995103, LOC129995104, LOC129995105, LOC129995106, LOC129995107, LOC129995108, LOC129995109, LOC129995110, LOC129995111, LOC129995112, LOC129995113, LOC129995114, LOC129995115, LOC129995116, LOC129995117, LOC129995118, LOC129995119, LOC129995120, LOC129995121, LOC129995122, LOC129995123, LOC129995124, LOC129995125, LOC129995126, LOC129995127, LOC129995128, LOC129995129, LOC129995130, LOC129995131, LOC129995132, LOC129995133, LOC129995134, LOC129995135, LOC129995136, LOC129995137, LOC129995138, LOC129995139, LOC129995140, LOC129995141, LOC129995142, LOC129995143, LOC129995144, LOC129995145, LOC129995146, LOC129995147, LOC129995148, LOC129995149, LOC129995150, LOC129995151, LOC129995152, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC132089203, LOC132089204, LOC132089205, LOC132089206, LOC132089207, LOC132089208, LOC132089209, LOC132089210, LOC132089211, LOC132089212, LOC132089213, LOC132089214, LOC132089215, LOC132089216, LOC132089217, LOC132089218, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132089223, LOC132090745, LOC132090746, LOC132090747, LOC132205961, LOC132205962, LOC285626, LSM11, MAT2B, MED7, MFAP3, MIR1294, MIR1303, MIR146A, MIR3141, MIR3142, MIR3142HG, MIR378H, MRPL22, NIPAL4, NIPAL4-DT, NUDCD2, PPP1R2B, PTTG1, PWWP2A, RNF145, SAP30L, SAP30L-AS1, SGCD, SLU7, SOX30, THG1L, TIMD4, TTC1, UBLCP1, ADAM19, ADRA1B, ATP10B, C1QTNF2, C5orf52, CCNG1, CCNJL, CLINT1, CNOT8, CYFIP2, EBF1, FABP6, FABP6-AS1, FAM114A2, FAM200C, FAXDC2, FNDC9, GABRA1, GABRA6, GABRB2, GABRG2, GALNT10, GARIN3, GEMIN5, GRIA1, HAND1, HAVCR1, HAVCR2, HMMR, HMMR-AS1, IL12B, ITK, KIF4B, LARP1, LINC01202, LINC01470, LINC01845, LINC01847, LINC01861, LINC01932, LINC01938, LINC02143, LINC02159, LINC02202, LINC02227, LINC03000, LOC102546299, LOC108228201, LOC110120620, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC116158526, LOC121099711, LOC121099712, LOC121740631, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC129389402, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, 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
See casesPathogenic
(Apr 2, 2012)
no assertion criteria provided
4.
GRCh37:
Chr5:152140747-166675058
GRCh38:
Chr5:152761187-167248053
LINC02159, LINC02202, LINC02227, LINC03000, LOC101927908, LOC102546299, LOC108228201, LOC110120620, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC116158526, LOC121099711, LOC121099712, LOC121740631, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC129389402, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129995064, LOC129995065, LOC129995066, LOC129995067, LOC129995068, LOC129995069, LOC129995070, LOC129995071, LOC129995072, LOC129995073, LOC129995074, LOC129995075, LOC129995076, LOC129995077, LOC129995078, LOC129995079, LOC129995080, LOC129995081, LOC129995082, LOC129995083, LOC129995084, LOC129995085, LOC129995086, LOC129995087, LOC129995088, LOC129995089, LOC129995090, LOC129995091, LOC129995092, LOC129995093, LOC129995094, LOC129995095, LOC129995096, LOC129995097, LOC129995098, LOC129995099, LOC129995100, LOC129995101, LOC129995102, LOC129995103, LOC129995104, LOC129995105, LOC129995106, LOC129995107, LOC129995108, LOC129995109, LOC129995110, LOC129995111, LOC129995112, LOC129995113, LOC129995114, LOC129995115, LOC129995116, LOC129995117, LOC129995118, LOC129995119, LOC129995120, LOC129995121, LOC129995122, LOC129995123, LOC129995124, LOC129995125, LOC129995126, LOC129995127, LOC129995128, LOC129995129, LOC129995130, LOC129995131, LOC129995132, LOC129995133, LOC129995134, LOC129995135, LOC129995136, LOC129995137, LOC129995138, LOC129995139, LOC129995140, LOC129995141, LOC129995142, LOC129995143, LOC129995144, LOC129995145, LOC129995146, LOC129995147, LOC129995148, LOC129995149, LOC129995150, LOC129995151, LOC129995152, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132089223, LOC132089224, LOC132090746, LOC132090747, LOC285626, LSM11, MAT2B, MED7, MFAP3, MIR1294, MIR1303, MIR146A, MIR3141, MIR3142, MIR3142HG, MIR378H, MRPL22, NIPAL4, NIPAL4-DT, NUDCD2, PPP1R2B, PTTG1, PWWP2A, RNF145, SAP30L, SAP30L-AS1, SGCD, SLU7, SOX30, TENM2, THG1L, TIMD4, TTC1, UBLCP1, ADAM19, ADRA1B, ATP10B, C1QTNF2, C5orf52, CCNG1, CCNJL, CLINT1, CNOT8, CYFIP2, EBF1, FABP6, FABP6-AS1, FAM114A2, FAM200C, FAXDC2, FNDC9, GABRA1, GABRA6, GABRB2, GABRG2, GALNT10, GARIN3, GEMIN5, GRIA1, HAND1, HAVCR1, HAVCR2, HMMR, HMMR-AS1, IL12B, ITK, KIF4B, LARP1, LINC01202, LINC01470, LINC01845, LINC01847, LINC01861, LINC01932, LINC01938, LINC01947, LINC02143
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr5:155477866-155484237
GRCh38:
Chr5:156050856-156057227
SGCDLarge for gestational age, Small for gestational agenot providedno assertion provided
6.
GRCh37:
Chr5:155544886
GRCh38:
Chr5:156117876
SGCDnot providedBenign
(May 1, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr5:155753656-155753667
GRCh38:
Chr5:156326647-156326657
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr5:155753749
GRCh38:
Chr5:156326739
SGCDnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr5:155753874
GRCh38:
Chr5:156326864
SGCDnot specified, Qualitative or quantitative defects of delta-sarcoglycan, not provided
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr5:155753882
GRCh38:
Chr5:156326872
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr5:155753908
GRCh38:
Chr5:156326898
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr5:155753911
GRCh38:
Chr5:156326901
SGCDnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr5:155753914
GRCh38:
Chr5:156326904
SGCDnot specified, Qualitative or quantitative defects of delta-sarcoglycan, not provided
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr5:155753934
GRCh38:
Chr5:156326924
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, not provided
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr5:155753951
GRCh38:
Chr5:156326941
SGCDQualitative or quantitative defects of delta-sarcoglycanUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr5:155753983
GRCh38:
Chr5:156326973
SGCDLimb-Girdle Muscular Dystrophy, Recessive, not specified, Qualitative or quantitative defects of delta-sarcoglycan,
not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr5:155754070
GRCh38:
Chr5:156327060
SGCDnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr5:155754107
GRCh38:
Chr5:156327097
SGCDLimb-Girdle Muscular Dystrophy, Recessive, not specified, not provided,
Qualitative or quantitative defects of delta-sarcoglycan, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr5:155754138-155754164
GRCh38:
Chr5:156327124-156327150
SGCDnot specifiednot provided
(Apr 10, 2014)
no assertion provided
20.
GRCh37:
Chr5:155754146-155754147
GRCh38:
Chr5:156327136-156327137
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Apr 24, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr5:155754151
GRCh38:
Chr5:156327141
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Conflicting interpretations of pathogenicity
(Feb 8, 2023)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr5:155754192
GRCh38:
Chr5:156327182
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Limb-Girdle Muscular Dystrophy, Recessive, not specified, not provided
Benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr5:155754206
GRCh38:
Chr5:156327196
SGCDnot specifiedLikely benign
(Jun 22, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr5:155754227
GRCh38:
Chr5:156327217
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Conflicting interpretations of pathogenicity
(Feb 8, 2023)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr5:155754242-155754243
GRCh38:
Chr5:156327232-156327233
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr5:155754242
GRCh38:
Chr5:156327232
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Feb 16, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr5:155754243
GRCh38:
Chr5:156327233
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Mar 16, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr5:155754243
GRCh38:
Chr5:156327233
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Jun 28, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr5:155754244
GRCh38:
Chr5:156327234
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Feb 27, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr5:155754244
GRCh38:
Chr5:156327234
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr5:155754252-155754254
GRCh38:
Chr5:156327242-156327244
SGCDnot specifiedLikely benign
(Aug 10, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr5:155754253
GRCh38:
Chr5:156327243
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not specified,
Qualitative or quantitative defects of delta-sarcoglycan
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr5:155756299
GRCh38:
Chr5:156329289
SGCDnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr5:155756414
GRCh38:
Chr5:156329404
SGCDnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr5:155756543
GRCh38:
Chr5:156329533
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr5:155756546
GRCh38:
Chr5:156329536
SGCDnot specifiednot provided
(Oct 31, 2013)
no assertion provided
37.
GRCh37:
Chr5:155756557
GRCh38:
Chr5:156329547
SGCDnot specified, Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr5:155756574
GRCh38:
Chr5:156329564
SGCDnot specifiedLikely benign
(Nov 6, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr5:155756587
GRCh38:
Chr5:156329577
SGCDM1VDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:155756590
GRCh38:
Chr5:156329580
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Sep 8, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr5:155756590
GRCh38:
Chr5:156329580
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Apr 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr5:155756591
GRCh38:
Chr5:156329581
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr5:155756592
GRCh38:
Chr5:156329582
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, not providedUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr5:155756596
GRCh38:
Chr5:156329586
SGCDnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2FConflicting interpretations of pathogenicity
(Jul 21, 2022)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr5:155756600
GRCh38:
Chr5:156329590
SGCDnot specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr5:155756602
GRCh38:
Chr5:156329592
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Sep 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:155756602
GRCh38:
Chr5:156329592
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Dec 18, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr5:155756603
GRCh38:
Chr5:156329593
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Mar 18, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:155756603
GRCh38:
Chr5:156329593
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Mar 2, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr5:155756603
GRCh38:
Chr5:156329593
SGCDnot specified, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Conflicting interpretations of pathogenicity
(Oct 9, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr5:155756604
GRCh38:
Chr5:156329594
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Jun 23, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:155756606
GRCh38:
Chr5:156329596
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Oct 12, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr5:155756608
GRCh38:
Chr5:156329598
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Jul 23, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:155756608
GRCh38:
Chr5:156329598
SGCDnot specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr5:155756609
GRCh38:
Chr5:156329599
SGCDnot specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Benign
(May 15, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:155756741
GRCh38:
Chr5:156329731
SGCDnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr5:155756837
GRCh38:
Chr5:156329827
SGCDnot providedBenign
(Jun 18, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr5:155756874
GRCh38:
Chr5:156329864
SGCDnot providedBenign
(Jun 26, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr5:155771330
GRCh38:
Chr5:156344320
SGCDnot providedLikely benign
(Jun 19, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr5:155771356
GRCh38:
Chr5:156344346
SGCDnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr5:155771378
GRCh38:
Chr5:156344368
SGCDnot providedLikely benign
(Jun 19, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr5:155771421-155771422
GRCh38:
Chr5:156344411-156344412
SGCDnot providedBenign
(Sep 10, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr5:155771458
GRCh38:
Chr5:156344448
SGCDnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr5:155771486
GRCh38:
Chr5:156344476
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Jul 28, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr5:155771487
GRCh38:
Chr5:156344477
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F,
not specified
Conflicting interpretations of pathogenicity
(Aug 15, 2021)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr5:155771488
GRCh38:
Chr5:156344478
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Mar 25, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:155771488
GRCh38:
Chr5:156344478
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Nov 21, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr5:155771492
GRCh38:
Chr5:156344482
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Mar 19, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:155771498
GRCh38:
Chr5:156344488
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely pathogenic
(Jan 24, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr5:155771498
GRCh38:
Chr5:156344488
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely pathogenic
(May 23, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr5:155771498
GRCh38:
Chr5:156344488
SGCDnot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr5:155771503
GRCh38:
Chr5:156344493
SGCDP3L, P2Lnot providedUncertain significance
(Apr 5, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr5:155771504
GRCh38:
Chr5:156344494
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Apr 10, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr5:155771505
GRCh38:
Chr5:156344495
SGCDQ4*, Q3*Autosomal recessive limb-girdle muscular dystrophy type 2FPathogenic
(Aug 13, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr5:155771510
GRCh38:
Chr5:156344500
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(May 12, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr5:155771510
GRCh38:
Chr5:156344500
SGCDE5D, E4DLimb-Girdle Muscular Dystrophy, Recessive, not specified, Qualitative or quantitative defects of delta-sarcoglycan,
not provided, Cardiomyopathy, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:155771514
GRCh38:
Chr5:156344504
SGCDY7H, Y6HInborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Dec 25, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr5:155771517
GRCh38:
Chr5:156344507
SGCDT8A, T7Anot providedUncertain significance
(Jan 24, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr5:155771520
GRCh38:
Chr5:156344510
SGCDH8Y, H9Ynot provided, Inborn genetic diseases, Primary familial dilated cardiomyopathy,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr5:155771523
GRCh38:
Chr5:156344513
SGCDH10Y, H9YAutosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Aug 21, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr5:155771526
GRCh38:
Chr5:156344516
SGCDR10G, R11GInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr5:155771526
GRCh38:
Chr5:156344516
SGCDR11W, R10Wnot provided, not specified, Inborn genetic diseases,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Aug 28, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr5:155771527
GRCh38:
Chr5:156344517
SGCDR11Q, R10QDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:155771528
GRCh38:
Chr5:156344518
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Apr 11, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:155771530
GRCh38:
Chr5:156344520
SGCDS11N, S12NAutosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr5:155771533
GRCh38:
Chr5:156344523
SGCDT13I, T12IAutosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr5:155771535
GRCh38:
Chr5:156344525
SGCDM13V, M14VAutosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Feb 6, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr5:155771536
GRCh38:
Chr5:156344526
SGCDM13T, M14TAutosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Dec 14, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr5:155771537
GRCh38:
Chr5:156344527
SGCDM13I, M14Inot providedUncertain significance
(Apr 29, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr5:155771540
GRCh38:
Chr5:156344530
SGCDnot specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F
Conflicting interpretations of pathogenicity
(Mar 1, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr5:155771542
GRCh38:
Chr5:156344532
SGCDG16D, G15DAutosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(May 13, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr5:155771546
GRCh38:
Chr5:156344536
SGCDInborn genetic diseasesLikely benign
(Feb 2, 2020)
criteria provided, single submitter
93.
GRCh37:
Chr5:155771549
GRCh38:
Chr5:156344539
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Oct 25, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:155771549
GRCh38:
Chr5:156344539
SGCDnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2FConflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr5:155771551
GRCh38:
Chr5:156344541
SGCDG19A, G18AAutosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(May 12, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr5:155771559-155771560
GRCh38:
Chr5:156344549-156344550
SGCDY22fs, Y23fsnot providedPathogenic
(Dec 9, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr5:155771561
GRCh38:
Chr5:156344551
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Mar 18, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr5:155771562
GRCh38:
Chr5:156344552
SGCDY22H, Y23HSGCD-related conditionUncertain significance
(Jun 14, 2023)
criteria provided, single submitter
99.
GRCh37:
Chr5:155771564
GRCh38:
Chr5:156344554
SGCDY23*, Y22*Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FLikely pathogenic
(Sep 1, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr5:155771564
GRCh38:
Chr5:156344554
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not specified,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F
Conflicting interpretations of pathogenicity
(Jul 23, 2022)
criteria provided, conflicting interpretations
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