ClinVar Miner

Variants studied for neurocristopathy

Included ClinVar conditions (167):
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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 association not found protective risk factor other not provided total
5972 2063 17953 11532 1718 1 2 69 9 96 37623

Gene and significance breakdown #

Total genes and gene combinations: 313
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not found protective risk factor other not provided total
NF1 3705 793 4429 3074 205 0 0 1 0 26 11596
ALK 19 10 2621 1439 97 0 0 4 0 8 4131
RET 92 56 1624 1176 110 0 0 16 0 7 2856
CHD7 405 121 808 993 350 1 0 0 0 4 2514
SDHA 162 90 1246 808 53 0 0 0 0 9 2307
MEN1 349 117 918 681 55 0 0 0 0 8 2014
POT1 121 40 873 538 27 0 0 0 0 7 1585
SDHB 168 69 511 318 20 0 0 0 0 1 1054
CDKN2A 95 44 540 208 14 0 0 18 0 0 892
CDKN1B 61 8 463 201 34 0 0 0 0 0 748
PHOX2B 21 9 408 256 24 0 0 2 0 0 711
TBX1 26 8 349 267 34 0 0 0 0 3 678
ELP1 9 111 422 114 49 0 0 0 0 3 665
SDHC 62 27 313 208 6 0 0 0 0 0 607
SEMA3E 0 1 288 198 27 0 0 0 0 0 508
CDK4 2 4 254 200 129 0 0 2 0 0 495
MC1R 0 0 316 135 71 0 0 2 0 1 483
FOXC1 72 15 201 108 21 0 0 0 0 0 413
CDK4, TSPAN31 0 0 162 128 92 0 0 0 0 0 324
KIF1B 0 2 126 36 55 0 0 0 0 0 219
KIT 40 10 78 25 5 0 0 0 0 1 157
PITX2 52 11 50 10 27 0 0 0 0 0 145
LOC111811965, MIR4733HG, NF1 33 11 70 31 1 0 0 0 0 0 138
CHD7, LOC126860403 21 2 54 47 18 0 0 0 0 0 132
EDNRB 9 8 77 9 3 0 0 5 0 1 105
STK11 7 7 84 6 0 0 0 0 0 0 103
CDK4, LOC130008148 0 0 56 31 26 0 0 0 0 0 95
TP53 0 92 0 0 0 0 0 0 0 1 93
BRAF 19 44 10 23 1 0 0 0 0 0 91
GDNF 0 0 48 18 21 0 0 4 0 0 88
LOC110011216, PHOX2B 9 2 33 41 9 0 0 0 0 0 87
KRT4 3 0 24 16 42 0 0 0 0 0 84
EDN3 6 4 46 14 12 0 0 3 0 0 76
SDHAF2 4 12 43 4 1 0 0 0 0 2 64
SDHD 32 11 15 1 5 0 0 0 0 0 62
KRT13 2 0 17 6 35 0 0 0 0 0 60
LOC129929542, SDHB 6 1 27 26 0 0 0 0 0 0 60
POLR2F, SOX10 20 25 8 2 1 0 0 0 0 0 56
EVI2A, EVI2B, NF1, OMG 44 4 5 0 0 0 0 0 0 0 53
LOC106736614, RET 0 0 36 9 2 0 0 0 0 0 46
EFNB1 23 18 3 0 2 0 0 0 0 0 44
FOXC1, LOC129995601 16 5 11 7 1 0 0 0 0 0 39
NSDHL 10 5 9 10 2 0 0 0 0 4 37
PIK3CA 13 26 4 0 0 0 0 0 0 3 37
SNAI2 0 0 28 5 0 0 0 0 0 0 33
BAP1 3 1 1 12 12 0 0 2 0 0 31
CTNNB1, LOC126806658 5 29 0 0 0 0 0 0 0 0 31
FGFR3 12 0 12 5 1 0 0 0 1 0 31
TERT 0 1 19 9 2 0 0 0 0 0 31
CDKN2A, LOC130001603 2 0 17 7 3 0 0 1 0 0 28
HRAS, LRRC56 9 15 7 4 0 0 0 0 0 1 28
NRAS 21 17 1 0 0 0 0 0 0 1 25
CDK4, MIR6759, TSPAN31 0 0 2 21 0 0 0 0 0 0 23
MAP2K1 7 14 0 0 0 0 0 0 0 0 19
KRAS 5 3 4 6 0 0 0 0 0 0 18
LOC130003710, RET 0 0 4 14 0 0 0 0 0 0 17
NTRK1 2 1 14 0 0 0 0 0 0 0 17
FOXI3 4 13 0 0 0 0 0 0 0 0 13
LOC126861339, SDHD 10 1 1 0 1 0 0 0 0 0 13
LOC129929541, SDHB 3 0 1 9 0 0 0 0 0 0 13
LOC130062899, STK11 0 0 12 1 0 0 0 0 0 0 13
FBXW7 0 10 0 0 0 0 0 0 0 0 10
MIR4733HG, NF1 0 0 0 7 1 0 0 0 0 0 8
PTEN 3 4 1 0 0 0 0 0 0 0 8
​intergenic 5 0 2 0 0 0 0 0 0 0 7
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, LOC125177454, LOC130060654, LOC130060655, LOC130060656, MIR4733HG, NF1, OMG 5 0 2 0 0 0 0 0 0 0 7
MAP2K2 0 7 0 0 0 0 0 0 0 0 7
SF3B2 5 1 1 0 0 0 0 0 0 0 7
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 6 0 0 0 0 0 0 0 0 0 6
ERBB4 0 6 0 0 0 0 0 0 0 0 6
EVI2A, NF1 3 3 0 1 0 0 0 0 0 0 6
EZH2 0 6 0 0 0 0 0 0 0 0 6
LOC108281182, NF1 6 0 0 0 0 0 0 0 0 0 6
PTPN11 0 6 0 0 0 0 0 0 0 0 6
RNF135 0 0 6 0 0 0 0 0 0 0 6
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 5 0 0 0 0 0 0 0 0 0 5
B2M 0 5 0 0 0 0 0 0 0 0 5
C22orf39, CDC45, CLDN5, CLTCL1, DGCR2, ESS2, GP1BB, GSC2, HIRA, MRPL40, PRODH, SEPTIN5, SLC25A1, TBX1, TSSK2, UFD1 3 0 2 0 0 0 0 0 0 0 5
CDKN2A, CDKN2B 1 0 4 0 0 0 0 0 0 0 5
CREBBP 0 4 1 0 0 0 0 0 0 0 5
GNAQ 3 3 1 0 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 0 5
LOC108281181, NF1 5 0 0 0 0 0 0 0 0 0 5
LOC110806263, TERT 1 0 3 0 0 0 0 1 0 0 5
MTOR 0 3 0 0 0 0 0 0 0 2 5
NF1, OMG 4 1 0 0 0 0 0 0 0 0 5
PDGFRA 0 5 0 0 0 0 0 0 0 0 5
PIK3R1 0 5 0 0 0 0 0 0 0 0 5
SF3B1 0 5 0 0 0 0 0 0 0 0 5
SLC25A11 5 0 0 0 0 0 0 0 0 0 5
ASCL1, PAH 0 0 3 0 1 0 0 0 0 0 4
BRCA2 0 0 2 0 0 0 0 0 1 1 4
CDKN2A, LOC130001603, LOC130001604, LOC130001605 1 0 3 0 0 0 0 0 0 0 4
CNOT9 0 4 0 0 0 0 0 0 0 0 4
ERBB2 0 4 0 0 0 0 0 0 0 0 4
LOC108281180, NF1 4 0 0 0 0 0 0 0 0 0 4
LOC110121502, MCS+9.7, RET 0 0 0 1 3 0 0 1 0 0 4
LOC129929541, LOC129929542, SDHB 2 0 2 0 0 0 0 0 0 0 4
MAP4K2, MEN1 4 0 0 0 0 0 0 0 0 0 4
MBD4 0 0 0 0 0 0 0 4 0 0 4
NRG3 0 1 3 0 0 0 0 0 0 0 4
RAF1 0 4 0 0 0 0 0 0 0 0 4
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 3 0 0 0 0 0 0 0 0 0 3
ALK, CLIP4, PCARE, TOGARAM2, WDR43 0 0 3 0 0 0 0 0 0 0 3
ARAF 0 3 0 0 0 0 0 0 0 0 3
BRAF, LOC126860202 0 0 2 1 0 0 0 0 0 0 3
CDKN1B, LOC130007458 0 0 3 0 0 0 0 0 0 0 3
DENND3 0 1 2 0 0 0 0 0 0 0 3
FGFR1 0 3 0 0 0 0 0 0 0 0 3
GNA11 3 2 0 0 0 0 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 0 0 3
INSRR, NTRK1 0 0 3 0 0 0 0 0 0 0 3
KIF1B, LOC126805614 0 0 2 0 1 0 0 0 0 0 3
KIF1B, LOC129388447 0 0 2 1 0 0 0 0 0 0 3
LOC108281170, LOC108281180, NF1 3 0 0 0 0 0 0 0 0 0 3
LOC108281182, LOC125177454, NF1 3 0 0 0 0 0 0 0 0 0 3
MYC 0 3 0 0 0 0 0 0 0 0 3
NEK9 3 0 0 0 0 0 0 0 0 0 3
RAC1 0 3 0 0 0 0 0 0 0 1 3
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 2 0 0 0 0 0 0 0 0 0 2
AHNAK 0 0 2 0 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SNAP29, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 1 0 0 0 0 0 0 0 2
AKT1 0 2 0 0 0 0 0 0 0 0 2
ALG9, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, SDHD, SIK2, TIMM8B 1 0 1 0 0 0 0 0 0 0 2
ALK, LOC105374389, LOC122756683, LOC122756684 0 0 2 0 0 0 0 0 0 0 2
ALK, LOC122756683 0 0 2 0 0 0 0 0 0 0 2
CDKN1B, LOC130007457 1 0 1 0 0 0 0 0 0 0 2
DLST 1 0 1 0 0 0 0 0 0 0 2
ECE1 0 2 0 0 0 0 0 0 0 0 2
EDNRB, LOC107882129 0 0 1 0 0 0 0 1 0 0 2
EVI2A, EVI2B, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC125177454, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 2 0 0 0 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC108281182, LOC125177454, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 2 0 0 0 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 2 0 0 0 0 0 0 0 0 0 2
FBN1 1 0 1 0 0 0 0 0 0 0 2
GFRA1 0 0 2 0 0 0 0 0 0 0 2
KIF1B, LOC129929363 0 0 0 1 1 0 0 0 0 0 2
LOC106736614, LOC110121502, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, MCS+9.7, RET 0 0 2 0 0 0 0 0 0 0 2
LOC108281169, LOC108281170, LOC108281180, LOC111811965, MIR4733HG, NF1 1 0 1 0 0 0 0 0 0 0 2
LOC108281169, LOC108281170, NF1 2 0 0 0 0 0 0 0 0 0 2
LOC110120888, TBX1 2 0 0 0 0 0 0 0 0 0 2
LOC129929542, LOC129929543, SDHB 2 0 0 0 0 0 0 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 0 0 0 0 2
NTF3 0 0 1 1 0 0 0 0 0 0 2
NUP98 0 1 1 0 0 0 0 0 0 0 2
SEMA3D 0 1 2 0 0 0 0 0 0 0 2
SPRED1 0 2 0 0 0 0 0 0 0 0 2
TBATA 0 1 1 0 0 0 0 0 0 0 2
TSC2 0 0 1 0 0 0 0 0 1 0 2
YWHAE 0 0 2 0 0 0 0 0 0 0 2
AASDH, ADAMTS3, ADGRL3, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, AREG, ARL9, BTC, CABS1, CDKL2, CENPC, CEP135, CHIC2, CLOCK, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, ENAM, EPGN, EPHA5, EREG, ERVMER34-1, EXOC1, EXOC1L, FDCSP, FIP1L1, G3BP2, GC, GNRHR, GRSF1, GSX2, HOPX, HTN1, HTN3, IGFBP7, INKILN, JCHAIN, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LNX1, LOC100506444, LOC101927237, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC111589210, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC114004386, LOC114803476, LOC114827842, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC116158495, LOC116158496, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121725171, LOC121725172, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LOC129992648, LOC129992649, LOC129992650, LOC129992651, LOC129992652, LOC129992653, LOC129992654, LOC129992655, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC550113, LRRC66, MIR1269A, MIR4449, MIR548AG1, MOB1B, MTHFD2L, MUC7, NAAA, NMU, NOA1, NPFFR2, ODAM, ODAPH, OPRPN, PAICS, PARM1, PDCL2, PDGFRA, PF4, PF4V1, POLR2B, PPAT, PPBP, PPEF2, PRR27, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCFD2, SDAD1, SGCB, SLC4A4, SMR3A, SMR3B, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRP72, STAP1, STATH, SULT1B1, SULT1E1, TECRL, THAP6, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, USO1, USP46, USP46-DT, UTP3, YTHDC1 1 0 0 0 0 0 0 0 0 0 1
ABCB10, ABL2, ACBD3, ACBD6, ACKR1, ACP6, ACTA1, ACTN2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, BGLAP, BLZF1, BNIPL, BOLA1, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf105, C1orf115, C1orf116, C1orf131, C1orf198, C1orf21, C1orf226, C1orf35, C1orf43, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN8, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DYRK3, ECM1, EDARADD, EDEM3, EFCAB2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, ELF3, ELK4, ENAH, ENSA, ENTREP3, EPHX1, EPRS1, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GABPB2, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, GLUL, GNG4, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IGFN1, IGSF8, IGSF9, IKBKE, IL10, IL19, IL20, IL24, IL6R, ILDR2, ILF2, INAVA, INSRR, INTS3, INTS7, IPO9, IQGAP3, IRF2BP2, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LGALS8, LGR6, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LIX1L, LMNA, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LPGAT1, LRRC52, LRRC71, LRRN2, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, MRPS21, MSTO1, MT1HL1, MTARC1, MTARC2, MTMR11, MTR, MTX1, MUC1, MYBPH, MYOC, MYOG, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NCF2, NCSTN, NDUFS2, NECTIN4, NEK2, NEK7, NENF, NES, NFASC, NHLH1, NIBAN1, NID1, NIT1, NLRP3, NME7, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PACC1, PAPPA2, PAQR6, PARP1, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PDE4DIP, PDZK1, PEA15, PEAR1, PEX11B, PEX19, PFDN2, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PI4KB, PIAS3, PIGC, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, PTPN7, PTPRC, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3GAP2, RAB4A, RABGAP1L, RABIF, RALGPS2, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCCPDH, SCNM1, SCYL3, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SERTAD4, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNRPE, SNX27, SOAT1, SOX13, SPATA17, SPATA45, SPATA46, SPHAR, SPMIP3, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TMEM63A, TMEM79, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18, ZBTB37, ZBTB41, ZBTB7B, ZC3H11A, ZNF124, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, ZNF687, ZNF695, ZP4 0 0 1 0 0 0 0 0 0 0 1
ABHD15, ADAP2, ANKRD13B, ATAD5, BLMH, CORO6, CPD, CRLF3, CRYBA1, EFCAB5, GIT1, GOSR1, NF1, NSRP1, NUFIP2, RNF135, SLC6A4, SSH2, TAOK1, TBC1D29P, TEFM, TMIGD1, TP53I13 1 0 0 0 0 0 0 0 0 0 1
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LOC101928372, LOC112543491, LOC122128457, LOC122128458, LOC122128459, LOC126805893, LOC126805894, LOC129388615, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LY9, MIR5187, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 0 0 0 0 1
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LY9, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 0 0 0 0 1
ADAP2, ATAD5, BLMH, CPD, CRLF3, GOSR1, NF1, OMG, RNF135, SLC6A4, TBC1D29P, TEFM, TMIGD1 1 0 0 0 0 0 0 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 0 0 0 0 0 1
ADAP2, ATAD5, CRLF3, LOC108281169, LOC108281170, LOC108771181, LOC108783647, LOC108783652, LOC111811965, LOC121587585, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, MIR4733, MIR4733HG, NF1, RNF135, TEFM 1 0 0 0 0 0 0 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SLX9, SPATC1L, YBEY 1 0 0 0 0 0 0 0 0 0 1
AGAP2, ARHGAP9, ARHGEF25, B4GALNT1, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIR616, NDUFA4L2, NXPH4, OS9, PIP4K2C, R3HDM2, SHMT2, STAC3, TSFM, TSPAN31 0 0 1 0 0 0 0 0 0 0 1
AIFM3, ARVCF, BCR, C22orf39, CCDC116, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA, IGLC1, IGLL5, KLHL22, LZTR1, MAPK1, MED15, MICAL3, MIR130B, MRPL40, P2RX6, PEX26, PI4KA, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, USP18, USP41, VPREB1, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF74 1 0 0 0 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6L, DGCR8, ESS2, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC130066949, LOC130066950, LOC130066951, LOC130066952, LOC130066953, LOC130066954, LOC130066955, LOC130066956, LOC130066957, LOC130066958, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, LOC130066965, LOC130066966, LOC130066967, LOC130066968, LOC130066969, LOC130066970, LOC130066971, LOC130066972, LOC130066973, LOC130066974, LOC130066975, LOC130066976, LOC130066977, LOC130066978, LOC130066979, LOC130066980, LOC130066981, LOC130066982, LOC130066983, LOC130066984, LOC130066985, LOC130066986, LOC130066987, LOC130066988, LOC130066989, LOC130066990, LOC130066991, LOC130066992, LOC130066993, LOC130066994, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090627, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 0 0 0 1
ALPK1, ANK2, AP1AR, AP1AR-DT, FAM241A, LARP7, LINC02945, LOC105377366, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC112935973, LOC112935974, LOC112935975, LOC123477806, LOC123477807, LOC123477808, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC132089000, LOC132089001, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, NEUROG2, PITX2, TIFA, ZGRF1 0 1 0 0 0 0 0 0 0 0 1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, LOC121853043, LOC125446232, LOC129391280, LOC130067392, LOC130067393, LOC130067394, LOC130067395, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 0 0 0 0 0 0 1
APOLD1, BCL2L14, BORCS5, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, ETV6, FAM234B, GABARAPL1, GPR19, GPRC5A, GPRC5D, GSG1, HEBP1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRK1, LRP6, MAGOHB, MANSC1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH2, PRR4, STYK1, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TMEM52B, YBX3 1 0 0 0 0 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 0 0 0 0 1
ARVCF, COMT, GNB1L, GP1BB, LOC110120888, LOC112694764, LOC112694766, LOC121627929, LOC126863098, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, MIR4761, RTL10, SEPT5-GP1BB, SEPTIN5, TBX1, TXNRD2 1 0 0 0 0 0 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, NKAIN3, RAB2A 1 0 0 0 0 0 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, RAB2A 0 0 1 0 0 0 0 0 0 0 1
ASPH, CHD7, CLVS1 1 0 0 0 0 0 0 0 0 0 1
ATM, C11orf65 0 0 1 0 0 0 0 0 0 0 1
AXIN2 0 1 0 0 0 0 0 0 0 0 1
BAD, CATSPERZ, CCDC88B, COX8A, DNAJC4, ESRRA, FERMT3, FKBP2, FLRT1, GPR137, KCNK4, MACROD1, MAP4K2, MEN1, NRXN2, NUDT22, OTUB1, PLCB3, PPP1R14B, PRDX5, PYGM, RASGRP2, RPS6KA4, SF1, SLC22A11, SLC22A12, STIP1, TRMT112, TRPT1, VEGFB 1 0 0 0 0 0 0 0 0 0 1
BAP1, DNAH1 1 0 0 0 0 0 0 0 0 0 1
BCL2L12, LOC130064935 0 1 0 0 0 0 0 0 0 0 1
BDNF 0 0 1 0 0 0 0 0 0 0 1
BPHL, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, LINC01600, MYLK4, NQO2, PSMG4, RIPK1, SERPINB1, SERPINB6, SERPINB9, SLC22A23, TUBB2A, TUBB2B, WRNIP1 1 0 0 0 0 0 0 0 0 0 1
C10orf55, PLAU 0 0 1 0 0 0 0 0 0 0 1
C19orf12 0 1 0 0 0 0 0 0 0 0 1
C22orf39, CDC45, CLDN5, CLTCL1, GP1BB, HIRA, MRPL40, SEPTIN5, SLC25A1, TBX1, UFD1 1 0 0 0 0 0 0 0 0 0 1
CACNA2D1, HGF, PCLO, SEMA3A, SEMA3D, SEMA3E 0 0 1 0 0 0 0 0 0 0 1
CCR9, LZTFL1 0 0 1 0 0 0 0 0 0 0 1
CDC73 0 1 0 0 0 0 0 0 0 0 1
CDK4, CYP27B1, MARCHF9 0 0 1 0 0 0 0 0 0 0 1
CDK4, LOC130008148, MIR6759, TSPAN31 0 0 1 0 0 0 0 0 0 0 1
CDKN1B, GPR19, LOC130007456 0 0 0 0 1 0 0 0 0 0 1
CDKN2A, LOC130001603, LOC130001604 1 0 0 0 0 0 0 0 0 0 1
CFAP126, SDHC 1 0 0 0 0 0 0 0 0 0 1
CHD7, LOC126860403, LOC130000466, LOC130000467, LOC130000468 1 0 0 0 0 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 0 0 1
CHIC2, CLOCK, FIP1L1, GSX2, KDR, KIT, LNX1, NMU, PDCL2, PDGFRA, RASL11B, SCFD2, SRD5A3, TMEM165 1 0 0 0 0 0 0 0 0 0 1
CLUH 0 0 1 0 0 0 0 0 0 0 1
CNTN5 0 0 1 0 0 0 0 0 0 0 1
COL7A1 0 1 0 0 0 0 0 0 0 0 1
CRNKL1, LOC130065490 0 1 0 0 0 0 0 0 0 0 1
CYP4V2, F11, FAM149A, FAT1, KLKB1, MTNR1A, SORBS2, TLR3 0 0 1 0 0 0 0 0 0 0 1
DCAF8 0 0 1 0 0 0 0 0 0 0 1
DDX46 0 0 1 0 0 0 0 0 0 0 1
DEPDC1 0 0 1 0 0 0 0 0 0 0 1
DNMT3A 1 0 0 0 0 0 0 0 0 0 1
DPPA5 0 0 1 0 0 0 0 0 0 0 1
DPYD 0 0 1 0 0 0 0 0 0 0 1
DSCAM 0 1 0 0 0 0 0 0 0 0 1
DYNC2H1 0 0 1 0 0 0 0 0 0 0 1
ENPEP, PITX2 1 0 0 0 0 0 0 0 0 0 1
EP300 0 1 0 0 0 0 0 0 0 0 1
ERG, EWSR1 1 0 0 0 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC108281182, LOC125177454, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC108281182, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC130060654, LOC130060655, LOC130060656, NF1 1 0 0 0 0 0 0 0 0 0 1
EVI2A, EVI2B, NF1, OMG, RAB11FIP4 1 0 0 0 0 0 0 0 0 0 1
EVI2B, LOC130060654, NF1, OMG 1 0 0 0 0 0 0 0 0 0 1
EVI2B, NF1 0 0 0 1 1 0 0 0 0 0 1
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B 1 0 0 0 0 0 0 0 0 0 1
F5 0 0 1 0 0 0 0 0 0 0 1
FANCA 0 0 1 0 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25 0 0 1 0 0 0 0 0 0 0 1
FANCA, ZNF276 0 0 1 0 0 0 0 0 0 0 1
FAT3 0 0 1 0 0 0 0 0 0 0 1
FBXL7 0 0 1 0 0 0 0 0 0 0 1
FMN2 0 0 1 0 0 0 0 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 0 0 0 0 0 1
FOXC1, LOC129995600, LOC129995601 1 0 0 0 0 0 0 0 0 0 1
FRK 0 0 1 0 0 0 0 0 0 0 1
GABBR1 0 1 0 0 0 0 0 0 0 0 1
GLI3 0 1 0 0 0 0 0 0 0 0 1
HNF1A 1 0 0 0 0 0 0 0 0 0 1
IHH 0 1 0 0 0 0 0 0 0 0 1
IKBKB 0 0 1 0 0 0 0 0 0 0 1
IQCF5 0 0 1 0 0 0 0 0 0 0 1
IRAK3 0 0 1 0 0 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 0 0 0 1
KDR 0 0 1 0 0 0 0 0 0 0 1
KIF1B, LOC129388446 0 0 0 1 0 0 0 0 0 0 1
KIF1B, LOC129929365 0 0 1 0 0 0 0 0 0 0 1
KLC1, XRCC3 0 0 0 0 0 0 0 1 0 0 1
KMT2D 0 1 0 0 0 0 0 0 0 0 1
KNSTRN 0 1 0 0 0 0 0 0 0 0 1
L1CAM 0 0 0 1 0 0 0 0 0 0 1
LMO1 0 0 0 0 0 0 1 0 0 0 1
LOC105378311, PCDH15 0 0 1 0 0 0 0 0 0 0 1
LOC106113036, NF1 0 0 1 0 1 0 0 0 0 1 1
LOC108281169, LOC108281170, LOC108281180, NF1 1 0 0 0 0 0 0 0 0 0 1
LOC108281169, LOC111811965, MIR4733HG, NF1 1 0 0 0 0 0 0 0 0 0 1
LOC108281180, LOC108281181, NF1 1 0 0 0 0 0 0 0 0 0 1
LOC110120882, LOC110120883, LOC126863146, LOC130067396, POLR2F, SOX10 1 0 0 0 0 0 0 0 0 0 1
LOC112577475, RBM15 0 0 0 0 0 0 0 0 1 0 1
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 0 0 1
LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 0 0 1
LOC129998730, SEMA3E 0 0 1 0 0 0 0 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 0 0 0 0 1
LOC130006095, SF3B2 1 0 0 0 0 0 0 0 0 0 1
LRBA 0 0 1 0 0 0 0 0 0 0 1
MAN2A2 0 0 1 0 0 0 0 0 0 0 1
MAP2K1, SNAPC5 1 0 0 0 0 0 0 0 0 0 1
MAP2K4 0 0 0 0 0 0 0 0 1 0 1
MAP2K7 0 0 0 0 0 0 0 0 1 0 1
MED15 0 0 1 0 0 0 0 0 0 0 1
MET 0 0 0 0 0 0 0 0 1 0 1
MGAM2 0 0 1 0 0 0 0 0 0 0 1
MITF 0 0 0 0 0 0 0 1 0 0 1
MYBPC3 0 0 1 0 0 0 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 0 0 0 1
NAV2 0 0 1 0 0 0 0 0 0 0 1
NCLN 0 1 0 0 0 0 0 0 0 0 1
NF2 0 0 1 0 0 0 0 0 0 0 1
NOTCH2 0 0 1 0 0 0 0 0 0 0 1
NOTCH4 0 0 1 0 0 0 0 0 0 0 1
NRP2 0 0 1 0 0 0 0 0 0 0 1
NTRK2 0 0 0 0 0 0 0 0 1 0 1
OAS3 0 0 1 0 0 0 0 0 0 0 1
OR1F1 0 0 0 1 0 0 0 0 0 0 1
PACS1 0 0 1 0 0 0 0 0 0 0 1
PAX1 0 1 0 0 0 0 0 0 0 0 1
PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT 0 0 1 0 0 0 0 0 0 0 1
PGRMC2 0 0 1 0 0 0 0 0 0 0 1
PHAX 0 0 1 0 0 0 0 0 0 0 1
PHF6 0 0 0 0 0 0 0 0 1 0 1
PHRF1 0 0 1 0 0 0 0 0 0 0 1
PIGO 0 0 1 0 0 0 0 0 0 0 1
PINK1 0 0 1 0 0 0 0 0 0 0 1
PLCB4 1 0 0 0 0 0 0 0 0 0 1
POR 0 0 1 0 0 0 0 0 0 0 1
PPP6C 0 1 0 0 0 0 0 0 0 0 1
PRDM5 0 0 1 0 0 0 0 0 0 0 1
PROKR1 0 1 0 0 0 0 0 0 0 0 1
PTCH1 0 0 1 0 0 0 0 0 0 0 1
PUF60 0 1 0 0 0 0 0 0 0 0 1
RERE 0 1 0 0 0 0 0 0 0 0 1
SEMA3A, SEMA3E 0 0 1 0 0 0 0 0 0 0 1
SERPINF1 0 0 1 0 0 0 0 0 0 0 1
SLC22A1 0 0 1 0 0 0 0 0 0 0 1
SLC45A2 0 0 0 0 0 0 1 0 0 0 1
SMARCA4 0 1 0 0 0 0 0 0 0 0 1
SNF8 0 0 1 0 0 0 0 0 0 0 1
STK19 0 1 0 0 0 0 0 0 0 0 1
TBX5 0 1 0 0 0 0 0 0 0 0 1
TGFB2 0 0 1 0 0 0 0 0 0 0 1
THBS4 0 0 1 0 0 0 0 0 0 0 1
TMEM127 0 0 1 0 0 0 0 0 0 0 1
TMEM165 0 0 1 0 0 0 0 0 0 0 1
TNFRSF1A 1 0 0 0 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 0 0 1
VCL 0 0 1 0 0 0 0 0 0 0 1
WDR11 0 0 1 0 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 0 0 0 1
ZHX2 0 0 1 0 0 0 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 0 0 0 0 1
ZNF592 0 0 1 0 0 0 0 0 0 0 1
ZYG11B 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 281
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not found protective risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4701 592 15453 10780 975 0 0 0 0 0 32500
Genome-Nilou Lab 465 130 962 563 148 0 0 0 0 0 2268
Illumina Laboratory Services, Illumina 10 4 1055 305 474 0 0 0 0 0 1807
Fulgent Genetics, Fulgent Genetics 77 41 777 375 22 0 0 0 0 0 1292
Baylor Genetics 58 34 953 0 0 0 0 0 0 0 1045
All of Us Research Program, National Institutes of Health 12 4 488 265 6 0 0 0 0 0 775
Myriad Genetics, Inc. 167 116 67 149 260 0 0 0 0 0 759
Database of Curated Mutations (DoCM) 94 384 0 0 0 0 0 0 0 4 451
Natera, Inc. 1 9 284 74 29 0 0 0 0 0 397
Genome Diagnostics Laboratory, The Hospital for Sick Children 185 97 66 23 25 0 0 0 0 0 396
OMIM 292 0 14 0 0 0 0 66 0 0 371
Center for Human Genetics, Inc, Center for Human Genetics, Inc 137 136 52 12 1 0 0 0 0 0 338
Counsyl 10 53 177 79 13 0 0 0 0 0 332
Mendelics 66 14 126 44 31 0 0 0 0 0 281
KCCC/NGS Laboratory, Kuwait Cancer Control Center 14 4 3 75 173 0 0 0 0 0 269
Medical Genetics, University of Parma 119 64 33 12 9 0 0 0 0 0 237
UAB Medical Genomics Laboratory, UAB Medicine 187 0 0 0 0 0 0 0 0 0 187
Juno Genomics, Hangzhou Juno Genomics, Inc 110 50 20 0 0 0 0 0 0 0 180
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 90 63 3 1 1 0 0 0 0 2 160
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 8 6 121 2 1 0 0 0 0 0 138
3billion 63 30 11 11 0 0 0 0 0 0 115
Color Diagnostics, LLC DBA Color Health 16 9 13 28 41 0 0 0 0 0 107
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 82 19 6 0 0 0 0 0 0 0 107
MGZ Medical Genetics Center 44 24 31 0 0 0 0 0 0 0 99
Institute of Human Genetics, University of Leipzig Medical Center 43 26 14 4 0 0 0 0 0 0 87
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 53 9 16 0 0 0 0 0 0 0 78
NHS Central & South Genomic Laboratory Hub 58 19 0 0 0 0 0 0 0 0 77
Centre for Mendelian Genomics, University Medical Centre Ljubljana 33 6 34 0 3 0 0 0 0 0 76
Genetics and Molecular Pathology, SA Pathology 41 9 15 0 9 0 0 0 0 0 74
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 40 6 10 0 15 0 0 0 0 0 71
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 53 16 0 0 0 0 0 0 0 0 69
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 30 13 22 3 0 0 0 0 0 0 68
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 58 1 6 2 0 0 0 0 0 0 67
Genetic Services Laboratory, University of Chicago 40 9 10 0 2 0 0 0 0 0 61
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 1 12 11 27 0 0 0 0 0 56
Human Developmental Genetics Laboratory, Medical College of Wisconsin 45 9 0 0 0 0 0 0 0 0 54
Clinical Genetics, Erasmus University Medical Center 1 2 46 1 0 0 0 0 0 0 50
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 13 2 21 4 1 0 0 0 0 0 41
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 41 41
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 37 1 2 0 0 0 0 0 0 0 40
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 27 9 0 0 0 0 0 2 0 0 38
Neuberg Centre For Genomic Medicine, NCGM 19 8 11 0 0 0 0 0 0 0 38
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 18 6 8 0 0 0 0 0 0 0 31
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 20 10 0 0 0 0 0 0 0 0 30
GeneReviews 1 0 0 0 0 0 0 0 0 27 28
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 20 7 0 0 0 0 0 0 0 0 27
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 14 5 5 0 2 0 0 0 0 0 26
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 15 6 5 0 0 0 0 0 0 0 26
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 12 7 5 1 0 0 0 0 0 0 25
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 3 17 1 2 1 0 0 0 0 0 24
New York Genome Center 9 2 13 0 0 0 0 0 0 0 24
University of Washington Center for Mendelian Genomics, University of Washington 0 20 0 0 0 0 0 0 0 0 20
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 16 4 0 0 0 0 0 0 0 0 20
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 9 2 0 0 0 0 0 0 0 18
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 18 18
MVZ Medizinische Genetik Mainz 6 2 10 0 0 0 0 0 0 0 18
Revvity Omics, Revvity 4 3 10 0 0 0 0 0 0 0 17
Clinical Genomics Laboratory, Washington University in St. Louis 8 4 5 0 0 0 0 0 0 0 17
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 17 0 0 0 0 0 0 0 17
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 16 1 0 0 0 0 0 0 0 0 17
Center of Genomic medicine, Geneva, University Hospital of Geneva 10 3 2 0 0 0 0 1 0 0 16
Institute of Medical Genetics, University of Zurich 12 2 1 1 0 0 0 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 4 10 0 0 0 0 0 16
Johns Hopkins Genomics, Johns Hopkins University 6 2 6 2 0 0 0 0 0 0 16
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 10 3 2 0 0 0 0 0 0 0 15
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 15 0 0 0 0 0 0 0 0 0 15
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 11 3 0 0 0 0 0 0 0 0 14
CSER _CC_NCGL, University of Washington 1 0 10 3 0 0 0 0 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 11 0 0 0 0 0 14
Suma Genomics 12 1 0 0 0 0 0 0 0 0 13
Institute of Human Genetics, Medical University Innsbruck 12 0 0 0 0 0 0 0 0 0 12
ZhangYB Lab, Beihang University 0 12 0 0 0 0 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 8 0 0 0 0 0 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 0 2 1 1 0 0 0 0 0 11
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 8 3 0 0 0 0 0 0 0 0 11
DASA 9 2 0 0 0 0 0 0 0 0 11
Institute of Human Genetics, University of Goettingen 5 2 3 0 0 0 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 5 1 0 0 0 0 0 0 10
Human Genetics Bochum, Ruhr University Bochum 4 6 0 0 0 0 0 0 0 0 10
Institute of Human Genetics, Cologne University 3 5 1 0 0 0 0 0 0 0 9
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 0 0 9 0 9
Daryl Scott Lab, Baylor College of Medicine 6 2 1 0 0 0 0 0 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 6 0 0 0 0 0 9
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 9 0 0 0 0 0 0 0 0 0 9
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 4 3 0 0 0 0 0 0 0 9
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 9 0 0 0 0 0 0 0 0 0 9
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 4 2 1 0 0 0 0 0 0 9
Department of Human Genetics, Hannover Medical School 3 4 2 0 0 0 0 0 0 0 9
Medical Molecular Genetics Department, National Research Center 6 2 0 0 0 0 0 0 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 0 0 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 3 3 0 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 4 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 1 1 0 0 0 0 1 0 0 7
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 4 0 0 0 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 4 1 2 0 0 0 0 0 0 0 7
Institute of Human Genetics, University Hospital Muenster 5 2 0 0 0 0 0 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 1 1 4 0 1 0 0 0 0 0 7
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine 3 4 0 0 0 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 3 1 1 0 0 0 0 0 6
Shanghai First Maternity and Infant Hospital, Tongji University 6 0 0 0 0 0 0 0 0 0 6
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 5 1 0 0 0 0 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 0 0 0 0 6
Lifecell International Pvt. Ltd 2 4 0 0 0 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 1 2 0 0 0 0 0 0 0 6
Genomics England Pilot Project, Genomics England 0 6 0 0 0 0 0 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 6 6
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 6 0 0 0 0 0 0 0 0 0 6
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 3 0 0 0 0 0 0 0 0 6
Centogene AG - the Rare Disease Company 1 3 1 0 0 0 0 0 0 0 5
Department of Medical Genetics, Oslo University Hospital 0 5 0 0 0 0 0 0 0 0 5
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 1 1 1 0 0 0 0 0 0 5
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 3 1 0 1 1 0 0 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 3 0 0 0 0 0 0 0 5
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 4 0 0 0 0 0 0 0 0 5
Molecular Genetics Laboratory, Motol Hospital 2 3 0 0 0 0 0 0 0 0 5
Pars Genome Lab 5 0 0 0 0 0 0 0 0 0 5
MVZ Dr. Eberhard & Partner Dortmund 2 2 0 0 0 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 3 1 0 0 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 1 0 0 0 0 0 0 0 4
Centre for Genomic Sciences, University of Hong Kong 0 4 0 0 0 0 0 0 0 0 4
Undiagnosed Diseases Network, NIH 4 0 0 0 0 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 2 1 1 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 0 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 4 0 0 0 0 0 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 0 0 0 0 4
Provincial Medical Genetics Program of British Columbia, University of British Columbia 4 0 0 0 0 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 4 0 0 0 0 0 0 0 0 0 4
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 4 0 0 0 0 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 1 0 0 0 0 0 0 0 0 3
King Laboratory, University of Washington 1 2 0 0 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 0 0 0 0 3
U955 Equipe 11, INSERM 1 2 0 0 0 0 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 2 1 0 0 0 0 0 0 0 3
Department of Research and Development, Institute Hermes Pardini 3 0 0 0 0 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 2 0 0 0 0 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 0 0 0 0 3
Department of Pathology and Genetics, University of Gothenburg 1 0 2 0 0 0 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 1 2 0 0 0 0 0 0 0 0 3
Department of Medical Genetics, College of Basic Medicine, Army Medical University 3 0 0 0 0 0 0 0 0 0 3
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 2 1 0 0 0 0 0 3
deCODE genetics, Amgen 1 2 0 0 0 0 0 0 0 0 3
Molecular Oncology Initiative, University of California, San Francisco 3 0 0 0 0 0 0 0 0 0 3
Swedish Neurofibromatosis Center, Swedish Medical Center 2 1 0 0 0 0 0 0 0 0 3
DBGen Ocular Genomics 0 2 1 0 0 0 0 0 0 0 3
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 2 0 0 0 0 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 3 0 0 0 0 0 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 0 0 0 0 0 0 0 0 3
Eurofins-Biomnis 2 1 0 0 0 0 0 0 0 0 3
Palindrome, Gene Kavoshgaran Aria 3 0 0 0 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 0 0 0 0 3
Dave Chen Lab, Washington University School of Medicine 1 0 2 0 0 0 0 0 0 0 3
Department Of Biochemistry, Hamamatsu University School Of Medicine 1 2 0 0 0 0 0 0 0 0 3
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 2 1 0 0 0 0 0 0 0 3
Dr.Nikuei Genetic Center 2 0 0 1 0 0 0 0 0 0 3
Center of Human Genetics, Hôpital Erasme 0 3 0 0 0 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 0 0 0 0 2
CGC Genetics, Unilabs 0 2 0 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 0 0 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 1 0 0 0 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 0 0 0 0 0 2
KK Women’s and Children’s Hospital 1 1 0 0 0 0 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 1 0 0 0 0 0 0 0 2
The Translational Medicine Center of Children Development and Disease, Fudan University 2 0 0 0 0 0 0 0 0 0 2
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 2 0 0 0 0 0 0 0 0 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 2 0 0 0 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 0 0 0 0 2
Harbour Laboratory, University of Miami Miller School of Medicine 2 0 0 0 0 0 0 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 0 0 0 0 2
Moosajee Lab, UCL Institute of Ophthalmology 2 0 0 0 0 0 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 1 0 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 0 0 0 0 0 2
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 2 0 0 0 0 0 0 0 0 2
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School 0 2 0 0 0 0 0 0 0 0 2
Gemeinschaftspraxis fuer Humangenetik Dresden 1 1 0 0 0 0 0 0 0 0 2
Laboratori Clínic ICS Lleida, Hospital Universitari Arnau de Vilanova 2 0 0 0 0 0 0 0 0 0 2
Cytogenetics, Genetics Associates, Inc. 0 0 2 0 0 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 1 0 0 0 0 0 2
Institute of Tissue Medicine and Pathology, University of Bern 0 2 0 0 0 0 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 2 0 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 0 0 0 0 0 0 0 0 1
Genologica Medica 0 1 0 0 0 0 0 0 0 0 1
Department of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 0 0 0 0 1
Bicknell laboratory, University of Otago 0 1 0 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Gazi University 0 1 0 0 0 0 0 0 0 0 1
Hereditary Hearing Loss Research Unit, University of Madras 1 0 0 0 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 0 0 0 1
Genetics, Medical University of Vienna 0 1 0 0 0 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Aldo Moro University of Bari 1 0 0 0 0 0 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 0 1
Hunan Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital 1 0 0 0 0 0 0 0 0 0 1
Fukami Lab, Dept of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 0 0 0 0 0 1
Carson lab, Ohio State University Comprehensive Cancer Center 1 0 0 0 0 0 0 0 0 0 1
Fan Lab, Zhengzhou University 1 0 0 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 1 0 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 0 0 1 0 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 0 1
Genetic Outpatient Clinic, Children's Memorial Health Institute 0 1 0 0 0 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 0 0 0 0 1
Institute of Neuropathology, University Medical Center Hamburg-Eppendorf 0 0 0 0 0 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 0 0 0 0 1
Genetics, Children's Hospital New Orleans 0 0 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 1 0 0 0 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 0 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 1 0 0 0 0 0 0 0 0 0 1
Hongqi Zhang Laboratory, Xiangya Hospital, Central South University 0 1 0 0 0 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 0 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 1 0 0 0 0 1
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius university 1 0 0 0 0 0 0 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 0 1 0 0 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 0 0 0 1
Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Hospital of China Medical University 1 0 0 0 0 0 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 0 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 0 0 1
Golden Lab, NIDDK 0 0 1 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 0 0 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 0 0 0 0 0 1
Division of Medical Oncology, Washington University at Saint Louis 1 0 0 0 0 0 0 0 0 0 1
Department of Dermatology, Xinhua Hospital, Shanghai Jiao Tong University of Medicine 1 0 0 0 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 0 0 0 0 1
Epigenetics and Oncology Laboratory, Southwest Medical University 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 0 0 0 1
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez 1 0 0 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 0 0 0 0 1
Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, BGI Genomics 1 0 0 0 0 0 0 0 0 0 1
Cytogenomix Sdn. Bhd. 1 0 0 0 0 0 0 0 0 0 1
Department of Dermatology, Medical University of Vienna 1 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 0 0 0 0 1

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