ClinVar Miner

Variants from ISCA site 7

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
4 0 8 5 307 324

Gene and significance breakdown #

Total genes and gene combinations: 203
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Gene or gene combination pathogenic uncertain significance likely benign benign total
​intergenic 0 0 0 45 45
UGT2B17 0 0 0 9 9
FAM30C, GOLGA6L6, LINC01193, LINC02203, LOC102724971, LOC107983983, LOC126088093, LOC130056704, LOC130056705, LOC130056706, MIR1268A, MIR3118-2, MIR3118-3, MIR3118-4, MIR5701-1, MIR5701-2, MIR5701-3, OR4M2, OR4M2-OT1, OR4M2B, OR4N4, OR4N4C, POTEB, POTEB2, POTEB3 0 0 0 7 7
LOC132088893 0 0 0 7 7
LOC130000265 0 0 0 6 6
HLA-DRB5 0 0 0 5 5
HLA-DRB1, HLA-DRB5 0 0 0 4 4
IGH 0 0 0 4 4
LINC01566 0 0 0 4 4
LINC02203, LOC102724971, LOC107983983, LOC126088093, LOC130056705, LOC130056706, MIR1268A, MIR3118-4, MIR5701-3, OR4M2, OR4M2-OT1, OR4M2B, OR4N4, OR4N4C, POTEB 0 0 0 4 4
OR4C11, OR4C6, OR4P4, OR4S2 0 0 0 4 4
PRSS1, TRB 0 0 0 4 4
DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM85B, FAM90A10, FAM90A11, FAM90A12, FAM90A14, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A22, FAM90A23, FAM90A24, FAM90A7, FAM90A8, FAM90A9, LOC128966594, LOC129999802, LOC129999803, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G 0 0 0 3 3
IGHV3OR16-17, IGHV3OR16-8, LOC105369266, LOC125146443, LOC129390784, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TP53TG3E, TP53TG3F 0 0 0 3 3
ARL17B, KANSL1, LOC126862577, LOC129390878, LRRC37A 0 0 0 2 2
BAGE2, BAGE3, TPTE 0 0 0 2 2
CCL3L3, CCL4L2, LOC124905374, TBC1D3G 0 0 0 2 2
CFHR1, CFHR3 0 0 0 2 2
CNTNAP3B, FAM74A7, SPATA31A6 0 0 0 2 2
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 0 0 2 2
DEFB104B, DEFB105B, DEFB106B, DEFB107B, FAM90A10, FAM90A14, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A22, FAM90A23, FAM90A7, FAM90A8, FAM90A9, LOC128966594, PRR23D1, PRR23D2 0 0 0 2 2
DUSP22, LOC126859546, LOC129995536, LOC129995537, LOC129995538, LOC129995539, LOC129995540, LOC129995541, LOC129995542, LOC129995543, LOC129995544, LOC129995545, LOC129995546, LOC129995547, LOC129995548, LOC129995549, LOC129995550, LOC129995551, LOC129995552, LOC129995553, LOC129995554, LOC129995555, LOC129995556, LOC129995557, LOC129995558, LOC129995559, LOC129995560 0 0 0 2 2
FAM30C, GOLGA6L6, LINC01193, LINC02203, LOC102724971, LOC126088093, LOC130056704, MIR3118-2, MIR3118-3, MIR3118-4, MIR5701-1, MIR5701-2, MIR5701-3, OR4M2, OR4M2-OT1, OR4M2B, OR4N4, OR4N4C, POTEB, POTEB2, POTEB3 0 0 0 2 2
FAM30C, GOLGA6L6, LINC01193, LINC02203, LOC102724971, LOC130056704, MIR3118-2, MIR3118-3, MIR3118-4, MIR5701-1, MIR5701-2, MIR5701-3, OR4M2-OT1, OR4M2B, OR4N4C, POTEB, POTEB2, POTEB3 0 0 0 2 2
FAM30C, LINC01193, LINC02203, LOC102724971, LOC107983983, LOC126088093, LOC130056705, LOC130056706, MIR1268A, MIR3118-3, MIR3118-4, MIR5701-1, MIR5701-2, MIR5701-3, OR4M2, OR4M2-OT1, OR4M2B, OR4N4, OR4N4C, POTEB, POTEB3 0 0 0 2 2
FAM88E, LOC101927827, LOC129390082 0 0 0 2 2
GOLGA8A, GOLGA8B, LOC130056755, LOC130056756, LOC130056757, LOC130056758, MIR1233-2 0 0 0 2 2
HCG4B 0 0 0 2 2
IGH, IGHV3-30, IGHV4-30-2, IGHV4-31 0 0 0 2 2
IGHV3OR16-17, IGHV3OR16-8, LOC105369266, LOC125146443, LOC129390784, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3E, TP53TG3F 0 0 0 2 2
KANSL1, LOC129390878 0 0 0 2 2
LINC01237 0 0 0 2 2
LINC01237, LINC01238, LINC01880, LOC122889016, LOC132205954, LOC285097 0 0 0 2 2
LINC01296, LINC01297, LINC01297-DUXAP10-NBEAP6, LINC02297, LNCRNA-ATB, LOC100508046, LOC101929572, LOC129390611, OR11H12, OR11H2, OR4K1, OR4K2, OR4K3, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM 0 0 0 2 2
LINC01296, LINC01297, LINC01297-DUXAP10-NBEAP6, LNCRNA-ATB, LOC100508046, LOC101929572, LOC129390611, OR11H2, OR4K1, OR4K2, OR4K3, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM 0 0 0 2 2
LOC284344, PSG4, PSG9 0 0 0 2 2
MIR570, MIR570HG 0 0 0 2 2
OR4K1, OR4K2, OR4K3, OR4K5, OR4M1, OR4N2, OR4Q3 0 0 0 2 2
OR4K1, OR4K2, OR4K5 0 0 0 2 2
UGT2B28 0 0 0 2 2
AADACL3, AADACL4, CFAP107, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, LINC01784, LOC126805620, LOC126805621, LOC126805622, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF9 0 0 0 1 1
ABCC4, LOC124909511, LOC126861817, LOC130009956, LOC130009957, LOC130009958, LOC130009959, LOC130009960, LOC130009961, LOC130009962, LOC130009963, LOC130009964, LOC130009965, LOC130009966, LOC130009967, SNORD13G 0 1 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, LAT2, LIMK1, LOC106029312, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC126860072, LOC126860073, LOC126860074, LOC129998584, LOC129998585, LOC129998586, LOC129998587, LOC129998588, LOC129998589, LOC129998590, LOC129998591, LOC129998592, LOC129998593, LOC129998594, LOC129998595, LOC129998596, LOC129998597, LOC129998598, LOC129998599, LOC129998600, LOC129998601, LOC129998602, LOC129998603, LOC129998604, LOC129998605, LOC129998606, LOC129998607, LOC129998608, LOC129998609, LOC129998610, LOC129998611, LOC129998612, LOC129998613, LOC129998614, LOC129998615, LOC129998616, LOC129998617, LOC129998618, LOC129998619, LOC129998620, LOC129998621, LOC129998622, LOC129998623, LOC129998624, LOC129998625, LOC129998626, LOC129998627, LOC129998628, LOC129998629, LOC129998630, LOC129998631, LOC129998632, LOC129998633, LOC129998634, LOC129998635, LOC129998636, LOC129998637, LOC129998638, LOC129998639, LOC129998640, LOC129998641, LOC129998642, LOC129998643, LOC129998644, LOC129998645, LOC129998646, LOC129998647, LOC129998648, LOC129998649, LOC129998650, LOC129998651, LOC129998652, LOC129998653, LOC129998654, LOC129998655, LOC129998656, LOC129998657, LOC129998658, LOC129998659, LOC129998660, LOC129998661, LOC129998662, LOC129998663, LOC129998664, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, NCF1, NSUN5, RFC2, SPDYE12, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC106029311, LOC106029312, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC126860072, LOC126860073, LOC126860074, LOC129869689, LOC129998583, LOC129998584, LOC129998585, LOC129998586, LOC129998587, LOC129998588, LOC129998589, LOC129998590, LOC129998591, LOC129998592, LOC129998593, LOC129998594, LOC129998595, LOC129998596, LOC129998597, LOC129998598, LOC129998599, LOC129998600, LOC129998601, LOC129998602, LOC129998603, LOC129998604, LOC129998605, LOC129998606, LOC129998607, LOC129998608, LOC129998609, LOC129998610, LOC129998611, LOC129998612, LOC129998613, LOC129998614, LOC129998615, LOC129998616, LOC129998617, LOC129998618, LOC129998619, LOC129998620, LOC129998621, LOC129998622, LOC129998623, LOC129998624, LOC129998625, LOC129998626, LOC129998627, LOC129998628, LOC129998629, LOC129998630, LOC129998631, LOC129998632, LOC129998633, LOC129998634, LOC129998635, LOC129998636, LOC129998637, LOC129998638, LOC129998639, LOC129998640, LOC129998641, LOC129998642, LOC129998643, LOC129998644, LOC129998645, LOC129998646, LOC129998647, LOC129998648, LOC129998649, LOC129998650, LOC129998651, LOC129998652, LOC129998653, LOC129998654, LOC129998655, LOC129998656, LOC129998657, LOC129998658, LOC129998659, LOC129998660, LOC129998661, LOC129998662, LOC129998663, LOC129998664, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, NCF1, NSUN5, POM121, RFC2, SPDYE10, SPDYE11, SPDYE8, SPDYE9, STX1A, TBL2, TMEM270, TRIM50, TRIM74, VPS37D 1 0 0 0 1
ADIPOR2, B4GALNT3, CACNA1C, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CCDC77, DCP1B, ERC1, FBXL14, IQSEC3, KDM5A, LINC00940, LINC00942, LINC02455, LOC102723544, LOC105369595, LOC107984507, LOC112136100, LOC112163597, LOC112163604, LOC116268425, LOC121392955, LOC124625876, LOC124625877, LOC124625878, LOC124625879, LOC124625880, LOC124625881, LOC126861410, LOC126861411, LOC126861412, LOC126861413, LOC126861414, LOC126861415, LOC126861416, LOC126861417, LOC126861418, LOC129390385, LOC130007132, LOC130007133, LOC130007134, LOC130007135, LOC130007136, LOC130007137, LOC130007138, LOC130007139, LOC130007140, LOC130007141, LOC130007142, LOC130007143, LOC130007144, LOC130007145, LOC130007146, LOC130007147, LOC130007148, LOC130007149, LOC130007150, LOC130007151, LOC130007152, LOC130007153, LOC130007154, LOC130007155, LOC130007156, LOC130007157, LOC130007158, LOC130007159, LOC130007160, LOC130007161, LOC130007162, LOC130007163, LOC130007164, LOC130007165, LOC130007166, LOC130007167, LOC130007168, LOC130007169, LOC130007170, LOC130007171, LOC130007172, LOC130007173, LOC130007174, LOC130007175, LOC130007176, LOC130007177, LOC130007178, LOC130007179, LOC130007180, LOC574538, LRTM2, MIR3649, NINJ2, RAD52, SLC6A12, SLC6A13, WNK1, WNT5B 1 0 0 0 1
AGAP10, AGAP9, ANTXRL, ANXA8, ANXA8L1, FAM245B, FAM25G, GDF10, GDF2, GPRIN2, LINC00842, LINC02637, LINC03029, LOC102724593, LOC105378289, LOC105378577, LOC107001062, LOC111818966, LOC111818967, LOC126860927, LOC126860928, LOC126860929, LOC130003769, LOC130003770, LOC130003771, LOC130003772, LOC130003773, LOC130003774, NPY4R, NPY4R2, PTPN20, RBP3, SYT15, SYT15B, ZNF488 0 0 0 1 1
AIRE, CFAP410, DNMT3L, GATD3, ICOSLG, LINC01678, LOC105372832, LOC125418082, LOC126088095, LOC128462414, LOC128462415, LOC128462416, LOC130066810, LOC130066811, LOC130066812, LOC130066813, LOC130066814, LOC130066815, LOC130066816, LOC130066817, LOC130066818, LOC130066819, LOC130066820, LOC130066821, LOC130066822, LOC130066823, LOC130066824, PFKL, PWP2 0 0 1 0 1
AMY1A, AMY2A 0 0 0 1 1
AMY2A, AMY2B 0 0 0 1 1
ANKRD17, COX18, LOC123477756, LOC129992669 0 0 0 1 1
ARHGAP18, LOC113146413, LOC121132706, LOC129389645, LOC129997129, LOC129997130, LOC129997131, LOC129997132, LOC129997133, LOC129997134, LOC129997135, LOC129997136, LOC129997137, LOC132089333 0 0 0 1 1
ARHGEF35, CTAGE8, OR2A1, OR2A7 0 0 0 1 1
ARID4B, B3GALNT2, GGPS1, GNG4, LINC01348, LINC02768, LINC02971, LINC03108, LNCATV, LOC111365208, LOC112577557, LOC112577558, LOC112577559, LOC120908921, LOC120908922, LOC120908923, LOC122152344, LOC122152345, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LYST, MIR1537, MIR4753, RBM34, SNORA14B, TBCE, TOMM20 0 1 0 0 1
ARL17A, ARL17B, FAM215B, LOC112533643, LOC126862577, LRRC37A, LRRC37A2, NSF 0 0 0 1 1
ARL17A, FAM215B, LRRC37A2, NSF 0 0 0 1 1
ATXN7L3B, BBS10, CAPS2, CNOT2, CSRP2, GLIPR1, GLIPR1L1, GLIPR1L2, KCNC2, KCNMB4, KRR1, LGR5, LINC02394, LINC02444, LINC02445, LINC02882, LNCOG, LOC100130268, LOC105369850, LOC111365152, LOC112163631, LOC112163632, LOC124629403, LOC124629404, LOC124629407, LOC124629408, LOC124629409, LOC124629410, LOC124629411, LOC124629412, LOC124629413, LOC124629414, LOC124629415, LOC126861567, LOC126861568, LOC126861569, LOC126861570, LOC126861571, LOC126861572, LOC126861573, LOC126861574, LOC126861575, LOC126861576, LOC129390483, LOC129390484, LOC129390485, LOC129390486, LOC129390487, LOC129390488, LOC129390489, LOC129390490, LOC129390491, LOC129390492, LOC129390493, LOC129390494, LOC129390495, LOC129390496, LOC129390497, LOC129390498, LOC129390499, LOC129390500, LOC129390501, LOC129390502, LOC129390503, LOC129390504, LOC129390505, LOC129390506, LOC129390507, LOC129390508, LOC129390509, LOC129390510, LOC130008287, LOC130008288, LOC130008289, LOC130008290, LOC130008291, LOC130008292, LOC130008293, LOC130008294, LOC130008295, LOC130008296, LOC130008297, LOC130008298, LOC130008299, LOC130008300, LOC130008301, LOC130008302, LOC130008303, LOC130008304, LOC130008305, LOC130008306, LOC130008307, LOC130008308, LOC130008309, LOC130008310, LOC130008311, LOC130008312, LOC130008313, LOC130008314, LOC130008315, LOC130008316, LOC130008317, LOC130008318, LOC130008319, LOC132090140, LOC132090141, MYRFL, NAP1L1, OSBPL8, PHLDA1, PHLDA1-DT, PRANCR, PTPRB, PTPRR, RAB21, RAB3IP, TBC1D15, THAP2, TMEM19, TPH2, TRHDE, TSPAN8, ZDHHC17, ZFC3H1 1 0 0 0 1
BAGE2, BAGE3, LOC125387321, LOC125387322, TPTE 0 0 0 1 1
BAIAP3, CCDC154, GNPTG, LOC101929440, LOC106799915, LOC115253417, LOC129390753, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, PERCC1, TPSD1, TSR3, UBE2I, UNKL, UQCC4 0 0 0 1 1
C4A, C4B, CYP21A2, LOC106780800, LOC106780804, LOC108004539, LOC110631417, TNXB 0 0 0 1 1
C8orf48, DLC1, LOC102725080, LOC132090783 0 0 0 1 1
CAPN15, LINC00235, MIR3176, MIR5587, RAB11FIP3 0 0 0 1 1
CFHR1, CFHR3, CFHR4, LOC122149335, LOC126805964 0 0 0 1 1
CFHR1, CFHR4, LOC122149335, LOC126805964 0 0 0 1 1
CFHR4, LOC122149335, LOC126805964 0 0 0 1 1
CHRFAM7A, GOLGA8R, LINC02249, LOC106736464 0 0 0 1 1
CHST12, LOC116183079, LOC129997813, LOC129997814, LOC129997815, LOC129997816, LOC129997817, LOC129997818, LOC129997819 0 0 0 1 1
CHTF8, DERPC, HAS3, LOC112486202, LOC130059300, LOC130059301, LOC130059302, LOC130059303, SNTB2, TANGO6, UTP4 0 1 0 0 1
CLEC3A, LOC112486208, LOC121587562, LOC125177355, LOC126862409, LOC126862410, LOC126862411, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC132090416, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090888, NUDT7, VAT1L, WWOX 0 1 0 0 1
CNTNAP3B 0 0 0 1 1
CSMD1 0 0 1 0 1
CSMD1, LINC03021, LOC105377785, LOC123987607, LOC123987608, LOC123987609, LOC126860284, LOC132089596 0 1 0 0 1
CTNNA3, LOC132089820, LOC132089821 0 0 0 1 1
D21S2088E, LINC00308, LINC01687, LOC125418052, LOC125418053, LOC126653324, LOC126653325, LOC129391233, LOC129391234, LOC129391235, LOC129391236, LOC129391237, MIR6130 0 1 0 0 1
DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB4A, DEFB4B, FAM66B, FAM90A10, FAM90A14, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A22, FAM90A23, FAM90A7, FAM90A8, FAM90A9, LOC128966594, LOC129999802, LOC129999803, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1, USP17L4, ZNF705B, ZNF705G 0 0 0 1 1
DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB4A, DEFB4B, FAM66B, FAM90A10, FAM90A14, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A22, FAM90A23, FAM90A7, FAM90A8, FAM90A9, LOC128966594, LOC129999802, LOC129999803, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1, USP17L4, ZNF705G 0 0 0 1 1
DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM85B, FAM90A10, FAM90A11, FAM90A12, FAM90A14, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A22, FAM90A23, FAM90A24, FAM90A7, FAM90A8, FAM90A9, LOC128966594, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B, ZNF705G 0 0 0 1 1
DEFB103B, DEFB104B, DEFB105B, DEFB106B, DEFB107B, DEFB109B, DEFB4B, FAM66B, FAM90A10, FAM90A14, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A22, FAM90A23, FAM90A7, FAM90A8, FAM90A9, LOC128966594, LOC129999802, LOC129999803, PRR23D1, PRR23D2, SPAG11B, USP17L1, USP17L4, ZNF705G 0 0 0 1 1
DEFB103B, DEFB104B, DEFB105B, DEFB106B, DEFB107B, DEFB4B, SPAG11B, ZNF705G 0 0 0 1 1
DEFB103B, DEFB104B, DEFB4B, SPAG11B, ZNF705G 0 0 0 1 1
DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10, FAM90A14, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A22, FAM90A23, FAM90A7, FAM90A8, FAM90A9, LOC128966594, PRR23D1, PRR23D2 0 0 0 1 1
DEFB105A, DEFB106A, DEFB107A, FAM90A10, FAM90A14, FAM90A16, FAM90A17, FAM90A18, FAM90A19, FAM90A22, FAM90A23, FAM90A7, FAM90A8, FAM90A9, LOC128966594, PRR23D1, PRR23D2 0 0 0 1 1
DIAPH2, LOC130068483 0 0 0 1 1
DUSP22, LOC126859546, LOC129995536, LOC129995537, LOC129995538, LOC129995539, LOC129995540, LOC129995541, LOC129995542, LOC129995543, LOC129995544, LOC129995545, LOC129995546, LOC129995547, LOC129995548, LOC129995549, LOC129995550, LOC129995551, LOC129995552, LOC129995553, LOC129995554, LOC129995555, LOC129995556, LOC129995557, LOC129995558 0 0 0 1 1
DUSP22, LOC129995536, LOC129995537, LOC129995538 0 0 0 1 1
DUSP22, LOC129995536, LOC129995537, LOC129995538, LOC129995539 0 0 0 1 1
EIF5AL1, LINC02679, LOC729815, NUTM2B, SFTPA1, SFTPA2 0 0 0 1 1
ELOA2, KATNAL2 0 0 0 1 1
FAM231AP, LOC129929532, LOC129929533, LOC129929534, NBPF1, RNU1-3, TRG-CCC4-1 0 0 0 1 1
FAM240C, LINC01237, LINC01238, LINC01880, LOC122889016, LOC132205954, LOC285097 0 0 0 1 1
FAM30C, GOLGA6L6, LINC01193, LINC02203, LOC102724971, LOC130056704, MIR3118-2, MIR3118-3, MIR3118-4, MIR5701-1, MIR5701-2, MIR5701-3, OR4M2B, OR4N4C, POTEB, POTEB2, POTEB3 0 0 0 1 1
FAM30C, LINC01193, LINC02203, LOC102724971, MIR3118-3, MIR3118-4, MIR5701-1, MIR5701-2, MIR5701-3, OR4M2-OT1, OR4M2B, OR4N4C, POTEB, POTEB3 0 0 0 1 1
FAM30C, LINC01193, MIR5701-1 0 0 0 1 1
FAM30C, LINC02203, LOC102724971, LOC107983983, LOC126088093, LOC130056705, LOC130056706, MIR1268A, MIR3118-3, MIR3118-4, MIR5701-2, MIR5701-3, OR4M2, OR4M2-OT1, OR4M2B, OR4N4, OR4N4C, POTEB, POTEB3 0 0 0 1 1
FAM41C, LINC01128, LOC129929059, LOC129929060 0 0 0 1 1
FAM66A 0 0 0 1 1
FCGR2B, FCGR2C, FCGR3B, LOC121725061, LOC129931774, TRL-CAA6-1 0 0 0 1 1
FCGR3A, LOC129931773, TRN-GTT1-1 0 0 0 1 1
GOLGA6L6 0 0 0 1 1
GOLGA6L6, LOC130056704 0 0 0 1 1
GOLGA8A, LOC130056755, LOC130056756 0 0 0 1 1
GPRIN2, LINC00842, NPY4R 0 0 0 1 1
GPRIN2, SYT15 0 0 0 1 1
GSTT1 0 0 0 1 1
GSTT1, GSTT4, LOC391322 0 0 0 1 1
GSTT1, LOC391322 0 0 0 1 1
GTF2H2, LOC111089946, NAIP, SERF1A, SMN, SMN1, SNORD13B-2 0 0 0 1 1
H2BW1, H2BW2 0 0 1 0 1
HCG26, HCP5, LINC01149, LOC121132677, MICA 0 0 0 1 1
HCG4B, HLA-A, LOC106799842 0 0 0 1 1
HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, LOC129996175 0 0 0 1 1
HLA-DRA, HLA-DRB1, HLA-DRB5, LOC129389490 0 0 0 1 1
HNRNPCL1, HNRNPCL3, LINC01784, LOC126805622, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF25, PRAMEF27, PRAMEF4, PRAMEF6, PRAMEF7 0 0 0 1 1
IGH, IGHV3-43 0 0 0 1 1
IGHV3OR16-17 0 0 0 1 1
IGHV3OR16-8, LOC105369266, LOC125146443, LOC129390784, TP53TG3B, TP53TG3C, TP53TG3E, TP53TG3F 0 0 0 1 1
IGHV3OR16-8, LOC105369266, LOC125146443, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TP53TG3E, TP53TG3F, ZNF267 0 0 0 1 1
IGHV3OR16-8, LOC105369266, LOC125146443, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3E, TP53TG3F 0 0 0 1 1
IGK, IGKV1-33, IGKV1-37, IGKV1-39, IGKV1D-33, IGKV1D-37, IGKV1D-39, IGKV2-40, IGKV2D-40, LOC129934284, LOC129934285 0 0 0 1 1
IGK, IGKV1D-12, IGKV1D-13, IGKV1D-16, IGKV1D-17, IGKV1D-42, IGKV1D-43, IGKV2D-24, IGKV2D-28, IGKV2D-29, IGKV2D-30, IGKV3D-11, IGKV3D-15, IGKV3D-20, IGKV6D-21, IGKV6D-41, LOC129934286 0 0 0 1 1
IGL, IGLV10-54, IGLV11-55, IGLV4-60, IGLV4-69, IGLV6-57, IGLV8-61, LOC112694768, LOC125424390, LOC130067043, LOC130067044, LOC130067045, LOC130067046, LOC130067047, LOC130067048, LOC130067049, LOC130067050, LOC130067051, LOC130067052, LOC130067053, LOC132090641, TOP3B 0 0 0 1 1
IGL, IGLV11-55, IGLV4-60, IGLV4-69, IGLV6-57, IGLV8-61, LOC125424390, LOC130067043, LOC130067044, LOC130067045, LOC130067046, LOC130067047, LOC130067048, LOC130067049, LOC130067050, LOC130067051, LOC130067052, LOC130067053 0 0 0 1 1
LAT2 0 0 0 1 1
LIMS4, LINC01106, LOC126806305, LOC126806306, LOC128966597, LOC129934555, LOC129934556, MALL, MIR4267, MIR4436B1, MIR4436B2, MTLN, NPHP1, RGPD6 0 0 0 1 1
LINC00537, LOC124292583, LOC124292584, LOC129390085, MIR4477B 0 0 0 1 1
LINC00564, LOC129390603, LOC129390604 0 0 0 1 1
LINC01237, LINC01238, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 0 0 0 1 1
LINC01296, LINC01297, LINC01297-DUXAP10-NBEAP6, LNCRNA-ATB, LOC100508046, LOC101929572, LOC129390611, POTEG, POTEM 0 0 0 1 1
LINC01296, LINC01297, LINC01297-DUXAP10-NBEAP6, LNCRNA-ATB, LOC100508046, LOC129390611, POTEG, POTEM 0 0 0 1 1
LINC01296, LINC01297, LINC01297-DUXAP10-NBEAP6, LNCRNA-ATB, LOC100508046, LOC129390611, POTEM 0 0 0 1 1
LINC01296, LINC01297-DUXAP10-NBEAP6, LNCRNA-ATB, LOC100508046, POTEM 0 0 0 1 1
LINC01296, LNCRNA-ATB, LOC100508046, POTEM 0 0 0 1 1
LINC01297, LINC01297-DUXAP10-NBEAP6, LOC129390611 0 0 0 1 1
LINC02040 0 0 0 1 1
LINC02055 0 0 0 1 1
LINC02197 0 0 0 1 1
LINC02197, SNORD13B-2 0 0 0 1 1
LINC02297, OR11H12 0 0 0 1 1
LINC02907 0 0 0 1 1
LINC03066, LOC129995517, LOC129995518 0 0 0 1 1
LOC100129603 0 0 0 1 1
LOC105372969, LOC106780824, LOC125424402, LOC130067127, LOC130067128, LOC130067129, LOC130067130, LOC130067131, LOC130067132, LOC130067133, LOC130067134, MIR6817 0 0 0 1 1
LOC105376010 0 0 0 1 1
LOC105376805, LOC112267871, LOC122056774, LOC129929535, MIR3675, RNU1-2, RNU1-4, TRE-TTC3-1, TRG-CCC1-2, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRQ-CTG14-1 0 0 0 1 1
LOC105377975, LOC129997088, LOC285762 0 0 0 1 1
LOC110120888, TBX1 0 0 0 1 1
LOC113002590, NAIP, SERF1A, SMN, SMN1 0 0 0 1 1
LOC121852923, LOC125177419, LOC126862502, LOC126862503, PIRT, SHISA6, TMEM220, TMEM238L 0 1 0 0 1
LOC121967041, MIR12136, MIR6723, OR4F16 0 0 0 1 1
LOC123002307, LOC123002308, ROBO1 0 0 1 0 1
LOC125146418, MIR1972-1, PDXDC1 0 0 0 1 1
LOC125146418, PDXDC1 0 0 0 1 1
LOC125387321 0 0 0 1 1
LOC126806088, LOC129388812, OR14C36, OR2M2, OR2M3, OR2M4, OR2M7, OR2T1, OR2T12, OR2T33, OR2T4, OR2T6 0 0 0 1 1
LOC126859857, SLC22A1 0 0 0 1 1
LOC126861450, PRB2 0 0 0 1 1
LOC126862373 0 0 1 0 1
LOC129389216, UGT2B28 0 0 0 1 1
LOC129389334 0 0 0 1 1
LOC129389846 0 0 0 1 1
LOC129390023, LRRC69 0 0 0 1 1
LOC129390784 0 0 0 1 1
LOC129992127, OTOP1 0 0 0 1 1
LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC132089303, TPPP, ZDHHC11, ZDHHC11B 0 0 0 1 1
LOC129993564, LOC129993565, LOC129993566, LOC129993567, TPPP, ZDHHC11B 0 0 0 1 1
LOC129993565, LOC129993566, LOC129993567, LOC132089303, ZDHHC11, ZDHHC11B 0 0 0 1 1
LOC129995536, LOC129995537 0 0 0 1 1
LOC130003769, LOC130003770 0 0 0 1 1
LOC130059323, LOC400541, PDPR 0 0 0 1 1
LOC130067127, LOC130067128, LOC130067129, LOC130067130 0 0 0 1 1
LOC132089303, ZDHHC11, ZDHHC11B 0 0 0 1 1
LOC284344, PSG4 0 0 0 1 1
LOC284344, PSG4, PSG5, PSG9 0 0 0 1 1
LOC400541, PDPR 0 0 0 1 1
MIR3171HG 0 0 0 1 1
OR11H2, OR4K1, OR4K2, OR4K3, OR4K5, OR4M1, OR4N2, OR4Q3 0 0 0 1 1
OR11H2, OR4M1, OR4Q3 0 0 0 1 1
OR2T10, OR2T11 0 0 0 1 1
OR2T10, OR2T11, OR2T34 0 0 0 1 1
OR2T10, OR2T34 0 0 0 1 1
OR4K1, OR4K15, OR4K2, OR4K3, OR4K5, OR4M1, OR4N2, OR4Q3 0 0 0 1 1
OR4K1, OR4K5 0 0 0 1 1
ORI6, RDH16 0 0 0 1 1
POTEC 0 0 0 1 1
POTEH 0 0 0 1 1
PRSS1, PRSS2, TRB 0 0 0 1 1
PRSS1, TRB, TRBV27, TRBV28, TRBV29-1 0 0 0 1 1
PRSS1, TRB, TRBV29-1 0 0 0 1 1
PWRN3 0 0 0 1 1
RHD, RSRP1 0 0 0 1 1
RNVU1-17, RNVU1-18, TRH-GTG2-1, TRN-GTT6-1, TRQ-CTG4-2 0 0 0 1 1
RNVU1-17, TRH-GTG2-1, TRQ-CTG4-2 0 0 0 1 1
SIRPB1 0 0 0 1 1
SNORD13B-2 0 0 0 1 1
SPANXA2-OT1 0 1 0 0 1
TARP, TRG, TRGC1, TRGJ1, TRGJP, TRGJP1 0 0 0 1 1
TARS3 0 0 0 1 1
TP53TG3D 0 0 0 1 1
TRH-GTG2-1, TRQ-CTG4-2 0 0 0 1 1
TYW1B 0 0 0 1 1
WASIR2 0 0 0 1 1
ZDHHC11 0 0 0 1 1
ZNF595 0 0 0 1 1
ZNF737 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 1
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign total
See cases 4 8 5 307 324

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