ClinVar Miner

Variants studied for chromosome 18 disorder

Included ClinVar conditions (3):
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
10 0 0 0 0 10

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic total
ADCYAP1, AFG3L2, AKAIN1, ANKRD12, ANKRD30B, ANKRD62, APCDD1, ARHGAP28, CEP192, CEP76, CETN1, CHMP1B, CIDEA, CLUL1, COLEC12, DLGAP1, EMILIN2, ENOSF1, EPB41L3, FAM210A, GNAL, IMPA2, L3MBTL4, LAMA1, LDLRAD4, LPIN2, LRRC30, MC2R, MC5R, METTL4, MPPE1, MTCL1, MYL12A, MYL12B, MYOM1, NAPG, NDC80, NDUFV2, PIEZO2, POTEC, PPP4R1, PRELID3A, PSMG2, PTPN2, PTPRM, RAB12, RAB31, RALBP1, RNMT, SEH1L, SLC35G4, SMCHD1, SPIRE1, TGIF1, THOC1, TMEM200C, TUBB6, TWSG1, TXNDC2, TYMS, TYMSOS, USP14, VAPA, YES1, ZBTB14, ZNF519 2 2
ABHD3, ACAA2, ADCYAP1, ADNP2, AFG3L2, AKAIN1, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, ARHGAP28, ARK2C, ARK2N, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf21, C18orf32, C18orf54, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CEP192, CEP76, CETN1, CFAP53, CHMP1B, CHST9, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, CPLX4, CTAGE1, CTDP1, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DLGAP1, DOK6, DSC1, DSC2, DSC3, DSEL, DSG1, DSG2, DSG3, DSG4, DTNA, DYM, DYNAP, ELAC1, ELOA2, ELP2, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM210A, FBXO15, FECH, FHOD3, GALNT1, GALR1, GAREM1, GATA6, GNAL, GREB1L, GRP, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPA2, IMPACT, INO80C, KATNAL2, KCNG2, KCTD1, KDSR, KIAA1328, KLHL14, L3MBTL4, LAMA1, LAMA3, LDLRAD4, LINC-ROR, LINC00683, LINC01415, LINC01879, LIPG, LMAN1, LOXHD1, LPIN2, LRRC30, MALT1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC2R, MC4R, MC5R, ME2, MEP1B, METTL4, MEX3C, MIB1, MIR1-2, MIR122, MIR133A1, MIR187, MOCOS, MPPE1, MRO, MTCL1, MYL12A, MYL12B, MYO5B, MYOM1, NAPG, NARS1, NDC80, NDUFV2, NEDD4L, NETO1, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PHLPP1, PIAS2, PIEZO2, PIGN, PIK3C3, PMAIP1, POLI, POTEC, PPP4R1, PRELID3A, PSMA8, PSMG2, PSTPIP2, PTGR3, PTPN2, PTPRM, RAB12, RAB27B, RAB31, RALBP1, RAX, RBBP8, RBFA, RELCH, RIOK3, RIT2, RMC1, RNF125, RNF138, RNF152, RNMT, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SEC11C, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC35G4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMCHD1, SMIM21, SNRPD1, SOCS6, SPIRE1, SS18, ST8SIA3, ST8SIA5, STARD6, SYT4, TAF4B, TCF4, TGIF1, THOC1, TIMM21, TMEM200C, TMEM241, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TSHZ1, TTC39C, TTR, TUBB6, TWSG1, TXNDC2, TXNL1, TXNL4A, TYMS, TYMSOS, USP14, VAPA, VPS4B, WDR7, YES1, ZBTB14, ZBTB7C, ZCCHC2, ZNF236, ZNF24, ZNF396, ZNF397, ZNF407, ZNF516, ZNF519, ZNF521, ZNF532, ZSCAN30 1 1
ADCYAP1, AFG3L2, AKAIN1, ANKRD12, ANKRD62, APCDD1, ARHGAP28, C18orf15, C18orf61, CEP192, CEP76, CETN1, CHMP1B, CIDEA, CLUL1, COLEC12, DLGAP1, EMILIN2, ENOSF1, EPB41L3, FAM210A, GACAT2, GAPLINC, GNAL, IMPA2, L3MBTL4, LAMA1, LDLRAD4, LINC00470, LINC00526, LINC00667, LINC00668, LINC01254, LINC01255, LINC01387, LINC01882, LINC01887, LINC01892, LINC01895, LINC01904, LINC01925, LINC01928, LOC100192426, LOC101927188, LOC101927410, LOC105371995, LOC105371998, LOC108318665, LOC110121440, LOC112538442, LOC112538443, LOC112538445, LOC112540018, LOC112543419, LOC112543420, LOC112543423, LOC112543431, LOC112543434, LOC112543435, LOC112543436, LOC112543437, LOC112577592, LOC116276486, LOC116276487, LOC116276488, LOC116276489, LOC121627821, LOC121627822, LOC121627823, LOC121725015, LOC121852958, LOC125338459, LOC125338460, LOC125338461, LOC125338462, LOC125338463, LOC125338464, LOC125338465, LOC125338466, LOC125338467, LOC125338468, LOC125338469, LOC125338470, LOC125338471, LOC125368541, LOC125368542, LOC125368543, LOC125368544, LOC125368546, LOC125368547, LOC125368548, LOC125368550, LOC125368551, LOC125368552, LOC125368553, LOC126862675, LOC126862676, LOC126862677, LOC126862678, LOC126862679, LOC126862680, LOC126862681, LOC126862682, LOC126862683, LOC126862684, LOC126862685, LOC126862686, LOC126862687, LOC126862688, LOC126862689, LOC126862690, LOC126862691, LOC126862692, LOC126862693, LOC126862694, LOC126862695, LOC126862696, LOC126862697, LOC126862698, LOC126862699, LOC126862700, LOC126862701, LOC129390951, LOC129390952, LOC129390953, LOC129390954, LOC129390955, LOC129390956, LOC129390957, LOC129390958, LOC130062070, LOC130062071, LOC130062072, LOC130062073, LOC130062074, LOC130062075, LOC130062076, LOC130062077, LOC130062078, LOC130062079, LOC130062080, LOC130062081, LOC130062082, LOC130062083, LOC130062084, LOC130062085, LOC130062086, LOC130062087, LOC130062088, LOC130062089, LOC130062090, LOC130062091, LOC130062092, LOC130062093, LOC130062094, LOC130062095, LOC130062096, LOC130062097, LOC130062098, LOC130062099, LOC130062100, LOC130062101, LOC130062102, LOC130062103, LOC130062104, LOC130062105, LOC130062106, LOC130062107, LOC130062108, LOC130062109, LOC130062110, LOC130062111, LOC130062112, LOC130062113, LOC130062114, LOC130062115, LOC130062116, LOC130062117, LOC130062118, LOC130062119, LOC130062120, LOC130062121, LOC130062122, LOC130062123, LOC130062124, LOC130062125, LOC130062126, LOC130062127, LOC130062128, LOC130062129, LOC130062130, LOC130062131, LOC130062132, LOC130062133, LOC130062134, LOC130062135, LOC130062136, LOC130062137, LOC130062138, LOC130062139, LOC130062140, LOC130062141, LOC130062142, LOC130062143, LOC130062144, LOC130062145, LOC130062146, LOC130062147, LOC130062148, LOC130062149, LOC130062150, LOC130062151, LOC130062152, LOC130062153, LOC130062154, LOC130062155, LOC130062156, LOC130062157, LOC130062158, LOC130062159, LOC130062160, LOC130062161, LOC130062162, LOC130062163, LOC130062164, LOC130062165, LOC130062166, LOC130062167, LOC130062168, LOC130062169, LOC130062170, LOC130062171, LOC130062172, LOC130062173, LOC130062174, LOC130062175, LOC130062176, LOC130062177, LOC130062178, LOC130062179, LOC130062180, LOC130062181, LOC130062182, LOC130062183, LOC130062184, LOC130062185, LOC130062186, LOC130062187, LOC130062188, LOC130062189, LOC130062190, LOC130062191, LOC130062192, LOC130062193, LOC130062194, LOC130062195, LOC130062196, LOC130062197, LOC130062198, LOC130062199, LOC130062200, LOC130062201, LOC130062202, LOC130062203, LOC130062204, LOC130062205, LOC130062206, LOC130062207, LOC130062208, LOC130062209, LOC130062210, LOC130062211, LOC130062212, LOC130062213, LOC130062214, LOC130062215, LOC130062216, LOC130062217, LOC130062218, LOC130062219, LOC130062220, LOC130062221, LOC130062222, LOC130062223, LOC130062224, LOC130062225, LOC130062226, LOC130062227, LOC130062228, LOC130062229, LOC130062230, LOC130062231, LOC130062232, LOC130062233, LOC130062234, LOC130062235, LOC130062236, LOC130062237, LOC130062238, LOC130062239, LOC130062240, LOC130062241, LOC132090486, LOC132090487, LOC132090489, LOC132090531, LOC132090897, LOC132090898, LPIN2, LRRC30, MC2R, MC5R, METTL4, MIR3976, MIR3976HG, MIR4317, MIR4526, MIR5190, MIR6718, MIR6788, MIR7153, MPPE1, MTCL1, MYL12, MYL12A, MYL12B, MYOM1, NAPG, NDC80, NDUFV2, PIEZO2, PPP4R1, PRELID3A, PSMG2, PTPN2, PTPRM, RAB12, RAB31, RALBP1, RNMT, SEH1L, SLC35G4, SMCHD1, SPIRE1, TGIF1, THOC1, TMEM200C, TUBB6, TWSG1, TWSG1-DT, TXNDC2, TYMS, TYMSOS, USP14, VAPA, YES1, ZBTB14, ZNF519 1 1
ADCYAP1, AKAIN1, ANKRD12, ARHGAP28, CETN1, CLUL1, COLEC12, DLGAP1, EMILIN2, ENOSF1, EPB41L3, L3MBTL4, LAMA1, LPIN2, LRRC30, METTL4, MTCL1, MYL12A, MYL12B, MYOM1, NDC80, NDUFV2, PPP4R1, PTPRM, RAB12, RAB31, RALBP1, SMCHD1, TGIF1, THOC1, TMEM200C, TWSG1, TXNDC2, TYMS, TYMSOS, USP14, VAPA, YES1, ZBTB14 1 1
ADCYAP1, AKAIN1, ARHGAP28, CETN1, CLUL1, COLEC12, DLGAP1, EMILIN2, ENOSF1, EPB41L3, L3MBTL4, LAMA1, LPIN2, METTL4, MYL12A, MYL12B, MYOM1, NDC80, SMCHD1, TGIF1, THOC1, TMEM200C, TYMS, TYMSOS, USP14, YES1, ZBTB14 1 1
ADNP2, ATP9B, BCL2, C18orf63, CBLN2, CCDC102B, CD226, CDH19, CDH20, CDH7, CNDP1, CNDP2, CTDP1, CTDP1-DT, CYB5A, DIPK1C, DOK6, DSEL, FBXO15, GALR1, GTSCR1, HMSD, HSBP1L1, KCNG2, KDSR, KDSR-DT, LINC00305, LINC00683, LINC00908, LINC01029, LINC01538, LINC01541, LINC01544, LINC01879, LINC01893, LINC01896, LINC01898, LINC01899, LINC01903, LINC01909, LINC01910, LINC01912, LINC01922, LINC01924, LINC01927, LINC02582, LINC02864, LIVAR, LOC105372173, LOC105372179, LOC105372187, LOC105372228, LOC107992389, LOC108281158, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110120953, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543430, LOC112543432, LOC112543433, LOC116276492, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852969, LOC121852970, LOC124904333, LOC125371435, LOC125371436, LOC125371437, LOC125371438, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862768, LOC126862769, LOC126862770, LOC126862771, LOC126862772, LOC126862773, LOC126862774, LOC126862775, LOC126862776, LOC126862777, LOC126862778, LOC126862779, LOC126862780, LOC126862781, LOC126862782, LOC126862783, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC129391004, LOC129391005, LOC129391006, LOC129391007, LOC129391008, LOC129456126, LOC130062620, LOC130062621, LOC130062622, LOC130062623, LOC130062624, LOC130062625, LOC130062626, LOC130062627, LOC130062628, LOC130062629, LOC130062630, LOC130062631, LOC130062632, LOC130062633, LOC130062634, LOC130062635, LOC130062636, LOC130062637, LOC130062638, LOC130062639, LOC130062640, LOC130062641, LOC130062642, LOC130062643, LOC130062644, LOC130062645, LOC130062646, LOC130062647, LOC130062648, LOC130062649, LOC130062650, LOC130062651, LOC130062652, LOC130062653, LOC130062654, LOC130062655, LOC130062656, LOC130062657, LOC130062658, LOC130062659, LOC130062660, LOC130062661, LOC130062662, LOC130062663, LOC130062664, LOC130062665, LOC130062666, LOC130062667, LOC130062668, LOC130062669, LOC130062670, LOC130062671, LOC130062672, LOC130062673, LOC130062674, LOC130062675, LOC130062676, LOC130062677, LOC130062678, LOC130062679, LOC130062680, LOC130062681, LOC130062682, LOC130062683, LOC130062684, LOC130062685, LOC130062686, LOC130062687, LOC130062688, LOC130062689, LOC130062690, LOC130062691, LOC130062692, LOC130062693, LOC130062694, LOC130062695, LOC130062696, LOC130062697, LOC130062698, LOC130062699, LOC130062700, LOC130062701, LOC130062702, LOC130062703, LOC130062704, LOC130062705, LOC130062706, LOC130062707, LOC130062708, LOC130062709, LOC130062710, LOC130062711, LOC130062712, LOC130062713, LOC130062714, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, LOC130062723, LOC130062724, LOC130062725, LOC130062726, LOC130062727, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC130062740, LOC130062741, LOC130062742, LOC130062743, LOC130062744, LOC130062745, LOC130062746, LOC130062747, LOC130062748, LOC130062749, LOC130062750, LOC130062751, LOC130062752, LOC130062753, LOC130062754, LOC130062755, LOC130062756, LOC130062757, LOC130062758, LOC130062759, LOC130062760, LOC130062761, LOC130062762, LOC130062763, LOC130062764, LOC130062765, LOC130062766, LOC130062767, LOC130062768, LOC130062769, LOC130062770, LOC130062771, LOC130062772, LOC130062773, LOC130062774, LOC130062775, LOC130062776, LOC130062777, LOC130062778, LOC130062779, LOC130062780, LOC130062781, LOC130062782, LOC130062783, LOC130062784, LOC130062785, LOC130062786, LOC130062787, LOC130062788, LOC130062789, LOC130062790, LOC130062791, LOC130062792, LOC130062793, LOC130062794, LOC130062795, LOC130062796, LOC130062797, LOC130062798, LOC130062799, LOC130062800, LOC130062801, LOC130062802, LOC130062803, LOC130062804, LOC132090494, LOC132090495, LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090500, LOC132090501, LOC132090502, LOC132090503, LOC132090504, LOC132090505, LOC132090506, LOC132090507, LOC132090508, LOC132090509, LOC132090510, LOC132090511, LOC132090512, LOC132090513, LOC132090514, LOC132090515, LOC132090516, LOC132090517, LOC132090518, LOC132090519, LOC132090520, LOC132090521, LOC132090522, LOC132090523, LOC132090524, LOC132090525, LOC132090526, LOC132090527, LOC132090528, LOC132090529, LOC132090530, LOC132090899, LOC132090900, LOC132090901, LOC132211114, LOC284240, LOC339298, MBP, MIR5011, MIR548AV, NETO1, NETO1-DT, NFATC1, PARD6G, PHLPP1, PIGN, PTGR3, RBFA, RBFADN, RELCH, RNF152, RTTN, SALL3, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TNFRSF11A, TSHZ1, TXNL4A, VPS4B, ZCCHC2, ZNF236, ZNF236-DT, ZNF407, ZNF516, ZNF516-DT 1 1
ADNP2, ATP9B, BCL2, C18orf63, CBLN2, CCDC102B, CD226, CDH19, CDH20, CDH7, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, DSEL, FBXO15, GALR1, HMSD, HSBP1L1, KCNG2, KDSR, LINC00683, LINC01879, MBP, MC4R, NETO1, NFATC1, PARD6G, PHLPP1, PIGN, PTGR3, RBFA, RELCH, RNF152, RTTN, SALL3, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TNFRSF11A, TSHZ1, TXNL4A, VPS4B, ZCCHC2, ZNF236, ZNF407, ZNF516 1 1
ADNP2, ATP9B, C18orf63, CBLN2, CCDC102B, CD226, CDH19, CDH7, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, DSEL, FBXO15, GALR1, HMSD, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NETO1, NFATC1, PARD6G, PTGR3, RBFA, RTTN, SALL3, SERPINB10, SERPINB11, SERPINB2, SERPINB3, SERPINB4, SERPINB7, SERPINB8, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TSHZ1, TXNL4A, ZNF236, ZNF407, ZNF516 1 1
ADNP2, ATP9B, C18orf63, CBLN2, CCDC102B, CD226, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, FBXO15, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NETO1, NFATC1, PARD6G, PTGR3, RBFA, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TSHZ1, TXNL4A, ZNF236, ZNF407, ZNF516 1 1
ADNP2, ATP9B, C18orf63, CBLN2, CCDC102B, CD226, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, FBXO15, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NETO1, NFATC1, PARD6G, PTGR3, RBFA, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TSHZ1, TXNL4A, ZNF236, ZNF407, ZNF516 1 1
AFG3L2, AKAIN1, ANKRD12, ANKRD62, APCDD1, ARHGAP28, CEP192, CEP76, CHMP1B, CIDEA, DLGAP1, EMILIN2, EPB41L3, FAM210A, GNAL, IMPA2, L3MBTL4, LAMA1, LDLRAD4, LPIN2, LRRC30, MC2R, MC5R, MPPE1, MTCL1, MYL12A, MYL12B, MYOM1, NAPG, NDUFV2, PIEZO2, PPP4R1, PRELID3A, PSMG2, PTPN2, PTPRM, RAB12, RAB31, RALBP1, RNMT, SEH1L, SLC35G4, SMCHD1, SPIRE1, TGIF1, TMEM200C, TUBB6, TWSG1, TXNDC2, VAPA, ZBTB14 1 1
ANKRD29, AQP4, ARK2C, ARK2N, ASXL3, ATP5F1A, B4GALT6, C18orf21, CABYR, CCDC178, CDH2, CELF4, CHST9, COSMOC, CTIF, DSC1, DSC2, DSC3, DSCAS, DSG1, DSG2, DSG3, DSG4, DTNA, DYM, ELOA2, ELP2, EPG5, FHOD3, GALNT1, GAREM1, HAUS1, HDHD2, HRH4, IER3IP1, IMPACT, INO80C, KATNAL2, KC6, KCTD1, KIAA1328, KLHL14, LAMA3, LINC00907, LINC01477, LINC01478, LINC01543, LINC01601, LINC01894, LINC01901, LINC01902, LINC01908, LINC01915, LINC02879, LINC02958, LOC105372028, LOC105372035, LOC105372038, LOC105372041, LOC105372066, LOC105372068, LOC105372069, LOC105372071, LOC110120864, LOC110120865, LOC110120866, LOC110120900, LOC110120920, LOC110120940, LOC110121315, LOC110121328, LOC110121329, LOC110121352, LOC110121353, LOC110121367, LOC110121371, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121421, LOC110121493, LOC111501775, LOC111718495, LOC112540016, LOC112540017, LOC112543421, LOC112543422, LOC112543424, LOC112543425, LOC112543426, LOC113939964, LOC114827854, LOC114827855, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC125368555, LOC125368556, LOC125368557, LOC125368558, LOC125368559, LOC125368560, LOC125371406, LOC125371407, LOC125371408, LOC125371409, LOC125371410, LOC125371411, LOC125371412, LOC125371413, LOC125371414, LOC125371416, LOC126862707, LOC126862708, LOC126862709, LOC126862710, LOC126862711, LOC126862712, LOC126862713, LOC126862714, LOC126862715, LOC126862716, LOC126862717, LOC126862718, LOC126862719, LOC126862720, LOC126862721, LOC126862722, LOC126862723, LOC126862724, LOC126862725, LOC126862726, LOC126862727, LOC126862728, LOC126862729, LOC126862730, LOC126862731, LOC126862732, LOC126862733, LOC126862734, LOC126862735, LOC126862736, LOC126862737, LOC126862738, LOC126862739, LOC126862740, LOC126862741, LOC129390964, LOC129390965, LOC129390966, LOC129390967, LOC129390968, LOC129390969, LOC129390970, LOC129390971, LOC129390972, LOC129390973, LOC129390974, LOC129390975, LOC129390976, LOC129390977, LOC129390978, LOC129390979, LOC129390980, LOC129390981, LOC129390982, LOC129390983, LOC129390984, LOC129390985, LOC129390986, LOC129390987, LOC129390988, LOC129390989, LOC129390990, LOC129390991, LOC129390992, LOC129390993, LOC130062292, LOC130062293, LOC130062294, LOC130062295, LOC130062296, LOC130062297, LOC130062298, LOC130062299, LOC130062300, LOC130062301, LOC130062302, LOC130062303, LOC130062304, LOC130062305, LOC130062306, LOC130062307, LOC130062308, LOC130062309, LOC130062310, LOC130062311, LOC130062312, LOC130062313, LOC130062314, LOC130062315, LOC130062316, LOC130062317, LOC130062318, LOC130062319, LOC130062320, LOC130062321, LOC130062322, LOC130062323, LOC130062324, LOC130062325, LOC130062326, LOC130062327, LOC130062328, LOC130062329, LOC130062330, LOC130062331, LOC130062332, LOC130062333, LOC130062334, LOC130062335, LOC130062336, LOC130062337, LOC130062338, LOC130062339, LOC130062340, LOC130062341, LOC130062342, LOC130062343, LOC130062344, LOC130062345, LOC130062346, LOC130062347, LOC130062348, LOC130062349, LOC130062350, LOC130062351, LOC130062352, LOC130062353, LOC130062354, LOC130062355, LOC130062356, LOC130062357, LOC130062358, LOC130062359, LOC130062360, LOC130062361, LOC130062362, LOC130062363, LOC130062364, LOC130062365, LOC130062366, LOC130062367, LOC130062368, LOC130062369, LOC130062370, LOC130062371, LOC130062372, LOC130062373, LOC130062374, LOC130062375, LOC130062376, LOC130062377, LOC130062378, LOC130062379, LOC130062380, LOC130062381, LOC130062382, LOC130062383, LOC130062384, LOC130062385, LOC130062386, LOC130062387, LOC130062388, LOC130062389, LOC130062390, LOC130062391, LOC130062392, LOC130062393, LOC130062394, LOC130062395, LOC130062396, LOC130062397, LOC130062398, LOC130062399, LOC130062400, LOC130062401, LOC130062402, LOC130062403, LOC130062404, LOC130062405, LOC130062406, LOC130062407, LOC130062408, LOC130062409, LOC130062410, LOC130062411, LOC130062412, LOC130062413, LOC130062414, LOC130062415, LOC130062416, LOC130062417, LOC130062418, LOC130062419, LOC130062420, LOC130062421, LOC130062422, LOC130062423, LOC130062424, LOC130062425, LOC130062426, LOC130062427, LOC130062428, LOC130062429, LOC130062430, LOC130062431, LOC130062432, LOC130062433, LOC130062434, LOC130062435, LOC130062436, LOC130062437, LOC130062438, LOC130062439, LOC130062440, LOC130062441, LOC130062442, LOC130062443, LOC130062444, LOC130062445, LOC130062446, LOC130062447, LOC130062448, LOC130062449, LOC130062450, LOC130062451, LOC130062452, LOC130062453, LOC130062454, LOC130062455, LOC130062456, LOC130062457, LOC130062458, LOC130062459, LOC130062460, LOC130062461, LOC130062462, LOC130062463, LOC130062464, LOC130062465, LOC130062466, LOC130062467, LOC130062468, LOC130062469, LOC130062470, LOC130062471, LOC130062472, LOC130062473, LOC130062474, LOC130062475, LOC130062476, LOC130062477, LOC130062478, LOC130062479, LOC132090488, LOXHD1, MAPRE2, MEP1B, MIR187, MIR302F, MIR320C2, MIR3929, MIR3975, MIR4318, MIR4319, MIR4527, MIR4527HG, MIR4743, MIR4744, MIR5583-1, MIR5583-2, MIR8057, MIR924, MIR924HG, MOCOS, NOL4, OSBPL1A, PCAT18, PIAS2, PIK3C3, PSMA8, PSTPIP2, RIT2, RNF125, RNF138, RPRD1A, SETBP1, SETBP1-DT, SIGLEC15, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC39A6, SMAD2, SMAD7, SNORA111, SS18, ST8SIA5, SYT4, TAF4B, TPGS2, TRAPPC8, TRK-CTT6-1, TTC39C, TTR, ZBTB7C, ZNF24, ZNF24TR, ZNF396, ZNF397, ZNF521, ZSCAN30 1 1

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic total
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 1
New York Genome Center 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1

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