| - 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:
- Chr5:149094155-180699152
- 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Apr 2, 2012) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155477866-155484237
- GRCh38:
- Chr5:156050856-156057227
| SGCD | | Large for gestational age, Small for gestational age | not provided | no assertion provided |
| - GRCh37:
- Chr5:155544886
- GRCh38:
- Chr5:156117876
| SGCD | | not provided | Benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155753656-155753667
- GRCh38:
- Chr5:156326647-156326657
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:155753749
- GRCh38:
- Chr5:156326739
| SGCD | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155753874
- GRCh38:
- Chr5:156326864
| SGCD | | not specified, Qualitative or quantitative defects of delta-sarcoglycan, not provided
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155753882
- GRCh38:
- Chr5:156326872
| SGCD | | Limb-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 |
| - GRCh37:
- Chr5:155753908
- GRCh38:
- Chr5:156326898
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Dec 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155753911
- GRCh38:
- Chr5:156326901
| SGCD | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155753914
- GRCh38:
- Chr5:156326904
| SGCD | | not specified, Qualitative or quantitative defects of delta-sarcoglycan, not provided
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155753934
- GRCh38:
- Chr5:156326924
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, not provided
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155753951
- GRCh38:
- Chr5:156326941
| SGCD | | Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155753983
- GRCh38:
- Chr5:156326973
| SGCD | | Limb-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 |
| - GRCh37:
- Chr5:155754070
- GRCh38:
- Chr5:156327060
| SGCD | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754107
- GRCh38:
- Chr5:156327097
| SGCD | | Limb-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 |
| - GRCh37:
- Chr5:155754138-155754164
- GRCh38:
- Chr5:156327124-156327150
| SGCD | | not specified | not provided (Apr 10, 2014) | no assertion provided |
| - GRCh37:
- Chr5:155754146-155754147
- GRCh38:
- Chr5:156327136-156327137
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Apr 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754151
- GRCh38:
- Chr5:156327141
| SGCD | | Limb-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 |
| - GRCh37:
- Chr5:155754192
- GRCh38:
- Chr5:156327182
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:155754206
- GRCh38:
- Chr5:156327196
| SGCD | | not specified | Likely benign (Jun 22, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754227
- GRCh38:
- Chr5:156327217
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:155754242-155754243
- GRCh38:
- Chr5:156327232-156327233
| SGCD | | 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 |
| - GRCh37:
- Chr5:155754242
- GRCh38:
- Chr5:156327232
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Feb 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754243
- GRCh38:
- Chr5:156327233
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754243
- GRCh38:
- Chr5:156327233
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Jun 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754244
- GRCh38:
- Chr5:156327234
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Feb 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754244
- GRCh38:
- Chr5:156327234
| SGCD | | 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 |
| - GRCh37:
- Chr5:155754252-155754254
- GRCh38:
- Chr5:156327242-156327244
| SGCD | | not specified | Likely benign (Aug 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754253
- GRCh38:
- Chr5:156327243
| SGCD | | Autosomal 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 |
| - GRCh37:
- Chr5:155756299
- GRCh38:
- Chr5:156329289
| SGCD | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756414
- GRCh38:
- Chr5:156329404
| SGCD | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756543
- GRCh38:
- Chr5:156329533
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:155756546
- GRCh38:
- Chr5:156329536
| SGCD | | not specified | not provided (Oct 31, 2013) | no assertion provided |
| - GRCh37:
- Chr5:155756557
- GRCh38:
- Chr5:156329547
| SGCD | | not specified, Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive
| Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155756574
- GRCh38:
- Chr5:156329564
| SGCD | | not specified | Likely benign (Nov 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756587
- GRCh38:
- Chr5:156329577
| SGCD | M1V | 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 |
| - GRCh37:
- Chr5:155756590
- GRCh38:
- Chr5:156329580
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756590
- GRCh38:
- Chr5:156329580
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756591
- GRCh38:
- Chr5:156329581
| SGCD | | 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 |
| - GRCh37:
- Chr5:155756592
- GRCh38:
- Chr5:156329582
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided | Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155756596
- GRCh38:
- Chr5:156329586
| SGCD | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F | Conflicting interpretations of pathogenicity (Jul 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155756600
- GRCh38:
- Chr5:156329590
| SGCD | | not 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 |
| - GRCh37:
- Chr5:155756602
- GRCh38:
- Chr5:156329592
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756602
- GRCh38:
- Chr5:156329592
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756603
- GRCh38:
- Chr5:156329593
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756603
- GRCh38:
- Chr5:156329593
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756603
- GRCh38:
- Chr5:156329593
| SGCD | | not 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 |
| - GRCh37:
- Chr5:155756604
- GRCh38:
- Chr5:156329594
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756606
- GRCh38:
- Chr5:156329596
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756608
- GRCh38:
- Chr5:156329598
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756608
- GRCh38:
- Chr5:156329598
| SGCD | | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Benign/Likely benign (Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155756609
- GRCh38:
- Chr5:156329599
| SGCD | | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Benign (May 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155756741
- GRCh38:
- Chr5:156329731
| SGCD | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756837
- GRCh38:
- Chr5:156329827
| SGCD | | not provided | Benign (Jun 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756874
- GRCh38:
- Chr5:156329864
| SGCD | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771330
- GRCh38:
- Chr5:156344320
| SGCD | | not provided | Likely benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771356
- GRCh38:
- Chr5:156344346
| SGCD | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771378
- GRCh38:
- Chr5:156344368
| SGCD | | not provided | Likely benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771421-155771422
- GRCh38:
- Chr5:156344411-156344412
| SGCD | | not provided | Benign (Sep 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771458
- GRCh38:
- Chr5:156344448
| SGCD | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771486
- GRCh38:
- Chr5:156344476
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771487
- GRCh38:
- Chr5:156344477
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:155771488
- GRCh38:
- Chr5:156344478
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771488
- GRCh38:
- Chr5:156344478
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Nov 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771492
- GRCh38:
- Chr5:156344482
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771498
- GRCh38:
- Chr5:156344488
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic (Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771498
- GRCh38:
- Chr5:156344488
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic (May 23, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771498
- GRCh38:
- Chr5:156344488
| SGCD | | not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155771503
- GRCh38:
- Chr5:156344493
| SGCD | P3L, P2L | not provided | Uncertain significance (Apr 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771504
- GRCh38:
- Chr5:156344494
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771505
- GRCh38:
- Chr5:156344495
| SGCD | Q4*, Q3* | Autosomal recessive limb-girdle muscular dystrophy type 2F | Pathogenic (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771510
- GRCh38:
- Chr5:156344500
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771510
- GRCh38:
- Chr5:156344500
| SGCD | E5D, E4D | Limb-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 |
| - GRCh37:
- Chr5:155771514
- GRCh38:
- Chr5:156344504
| SGCD | Y7H, Y6H | Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Dec 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771517
- GRCh38:
- Chr5:156344507
| SGCD | T8A, T7A | not provided | Uncertain significance (Jan 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771520
- GRCh38:
- Chr5:156344510
| SGCD | H8Y, H9Y | not 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 |
| - GRCh37:
- Chr5:155771523
- GRCh38:
- Chr5:156344513
| SGCD | H10Y, H9Y | Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Aug 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771526
- GRCh38:
- Chr5:156344516
| SGCD | R10G, R11G | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771526
- GRCh38:
- Chr5:156344516
| SGCD | R11W, R10W | not 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 |
| - GRCh37:
- Chr5:155771527
- GRCh38:
- Chr5:156344517
| SGCD | R11Q, R10Q | Dilated 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 |
| - GRCh37:
- Chr5:155771528
- GRCh38:
- Chr5:156344518
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771530
- GRCh38:
- Chr5:156344520
| SGCD | S11N, S12N | Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771533
- GRCh38:
- Chr5:156344523
| SGCD | T13I, T12I | Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771535
- GRCh38:
- Chr5:156344525
| SGCD | M13V, M14V | Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771536
- GRCh38:
- Chr5:156344526
| SGCD | M13T, M14T | Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771537
- GRCh38:
- Chr5:156344527
| SGCD | M13I, M14I | not provided | Uncertain significance (Apr 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771540
- GRCh38:
- Chr5:156344530
| SGCD | | not specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Conflicting interpretations of pathogenicity (Mar 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155771542
- GRCh38:
- Chr5:156344532
| SGCD | G16D, G15D | Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771546
- GRCh38:
- Chr5:156344536
| SGCD | | Inborn genetic diseases | Likely benign (Feb 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771549
- GRCh38:
- Chr5:156344539
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771549
- GRCh38:
- Chr5:156344539
| SGCD | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F | Conflicting interpretations of pathogenicity (Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155771551
- GRCh38:
- Chr5:156344541
| SGCD | G19A, G18A | Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771559-155771560
- GRCh38:
- Chr5:156344549-156344550
| SGCD | Y22fs, Y23fs | not provided | Pathogenic (Dec 9, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771561
- GRCh38:
- Chr5:156344551
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771562
- GRCh38:
- Chr5:156344552
| SGCD | Y22H, Y23H | SGCD-related condition | Uncertain significance (Jun 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771564
- GRCh38:
- Chr5:156344554
| SGCD | Y23*, Y22* | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic (Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771564
- GRCh38:
- Chr5:156344554
| SGCD | | Dilated 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 |