ClinVar Miner

Variants studied for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Included ClinVar conditions (181):
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 association not found not provided total
2050 1205 9325 5900 1759 1 118 19362

Gene and significance breakdown #

Total genes and gene combinations: 278
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
CHD7 427 131 1134 1158 391 1 4 2986
ATP7A 66 79 493 874 135 0 1 1625
SOS2 8 7 645 634 95 0 1 1327
LRP2 17 60 908 221 119 0 16 1240
GLI3 74 15 354 367 185 0 0 903
NSD1 257 109 361 104 64 0 2 833
TBX1 31 8 394 299 34 0 3 760
FREM1 3 28 499 48 78 0 0 649
MEGF8 17 18 230 276 67 0 0 602
SEMA3E 0 1 333 231 27 0 0 586
RYR1 28 58 394 34 38 0 1 551
SOS1 27 31 310 108 38 0 2 489
PIK3R1 28 13 227 197 20 0 9 485
TBX3 15 9 222 132 56 0 0 423
ROR2 15 30 250 46 27 0 0 359
PTPN11 82 58 157 39 20 0 9 321
NFIX 76 34 55 110 19 0 2 289
GJA1 34 17 157 72 22 0 0 284
RIT1 29 22 140 103 6 0 1 278
SOX9 42 19 93 83 29 0 2 254
RRAS 0 0 133 103 9 0 0 245
LZTR1 39 54 126 2 0 0 3 208
RAB23 22 12 41 136 9 0 0 201
BRAF 23 21 85 40 3 0 8 167
IRF6 56 20 55 18 13 0 3 162
RAF1 23 25 89 28 7 0 2 151
CHD7, LOC126860403 25 3 62 50 20 0 0 148
MAGEL2 26 23 88 5 1 0 5 143
KRAS 19 17 58 42 1 0 2 136
ABCC9 9 7 74 15 21 0 0 123
FGFR2 14 3 80 23 1 0 0 119
LOC108281177, SOX2, SOX2-OT 53 9 27 18 4 0 0 108
NRAS 11 6 64 19 7 0 5 108
SHOC2 5 7 52 12 28 0 1 95
SETBP1 13 7 35 22 15 0 2 92
CHRNG 22 27 40 1 2 0 0 87
WNT5A 5 8 63 10 2 0 4 84
ZNF462 29 15 35 2 5 0 0 84
ORC1 13 4 43 9 11 0 1 77
LOC108021846, SOX9 12 5 18 22 8 0 0 65
WDFY3 4 11 41 3 1 0 1 61
ZMPSTE24 9 2 34 6 7 0 0 58
POR 17 22 12 3 7 0 0 57
ORC6 8 4 40 2 4 0 0 55
LMNA 1 0 38 8 6 0 0 53
HOXA1 4 1 41 4 2 0 0 52
CHRNG, TIGD1 2 6 36 3 3 0 1 49
SOX2, SOX2-OT 12 3 10 15 7 0 0 45
TFAP2B 8 3 22 3 4 0 10 41
CDC6 3 0 27 5 5 0 0 40
DVL1 13 4 14 5 5 0 7 40
BAG2, RAB23 0 0 27 5 6 0 0 38
TELO2 9 6 15 2 8 0 0 37
FREM1, LOC126860582 2 3 25 2 1 0 0 33
SMO 7 2 17 2 4 0 0 32
FBXW4 0 0 14 11 5 0 0 30
CDT1 9 3 9 2 5 0 1 28
DVL3 9 6 12 1 0 0 6 27
LOC126807619, NSD1 16 9 3 0 0 0 0 27
LOC130055588, SOS2 0 0 12 15 1 0 0 27
ABCC9, KCNJ8 2 3 18 1 0 0 0 24
IGF2, INS-IGF2 10 6 4 0 0 0 0 19
CDC45 11 9 5 0 0 0 0 18
LOC126862902, RYR1 2 1 6 1 6 0 0 16
MAP2K1 2 4 3 7 0 0 0 16
MAP2K2 1 3 8 5 0 0 0 16
NFIA 5 8 1 0 1 0 0 15
PPP1CB 6 5 2 2 1 0 0 15
LOC129933535, SOS1 0 0 7 5 2 0 0 14
LMNB1 6 1 4 2 0 0 0 13
ORC4 5 2 2 1 3 0 0 12
HERC2 1 0 8 2 0 0 0 11
HMGA2 6 1 3 1 0 0 0 11
BRAF, LOC126860202 0 0 9 1 0 0 0 10
FBXW4, LOC130004563 0 0 6 0 4 0 0 10
HRAS, LRRC56 2 2 3 3 0 0 0 10
LMNB2 3 0 6 1 0 0 0 10
SMOC1 5 3 0 1 1 0 0 10
LOC126861980, SMOC1 3 1 0 0 5 0 0 9
LOC129391106, RYR1 0 0 5 3 1 0 0 9
LOC130067016, LZTR1 1 3 5 0 0 0 0 9
MAPK1 4 3 2 0 0 0 0 9
PIK3CD 2 0 2 2 3 0 0 9
CBL 4 3 1 0 0 0 0 8
DONSON 6 1 1 0 0 0 0 8
SPRED1 0 0 4 4 0 0 0 8
EXOSC2 1 3 2 0 0 0 1 7
LOC129930253, ZMPSTE24 2 0 5 0 0 0 0 7
RRAS2 2 2 3 0 1 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 6
CPE 3 1 0 2 0 0 0 6
FZD2 2 4 0 0 0 0 0 6
LOC126860395, PLAG1 1 3 2 0 0 0 0 6
LOC130004755, SHOC2 0 0 6 0 0 0 0 6
LOC130005368, RRAS2 5 1 0 0 0 0 0 6
MRAS 3 0 3 0 0 0 0 6
SIM1 0 0 4 2 0 0 0 6
SNRPB 4 2 1 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 5
ATP7A, PGK1 0 0 3 1 1 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 5
CHRND 0 0 3 2 0 0 0 5
CHRND, CHRNG 0 0 1 4 2 0 0 5
GMNN 3 1 2 0 0 0 0 5
MAP2K1, SNAPC5 0 0 4 1 1 0 0 5
NXN 3 0 0 2 0 0 0 5
​intergenic 4 0 0 0 0 0 0 4
CHRNA1 0 0 2 0 2 0 0 4
DVL1, LOC129929114 2 3 0 0 0 0 1 4
KRAS, LOC130007561 0 0 4 0 0 0 0 4
LOC130064357, RYR1 0 0 4 0 0 0 0 4
LOC340512, ZNF462 0 2 2 0 0 0 0 4
MCM5 2 0 1 0 1 0 0 4
MCM7 4 0 0 0 0 0 0 4
NDN 0 0 4 0 0 0 0 4
SPRED2 3 1 0 0 0 0 0 4
A2ML1 0 0 2 1 0 0 0 3
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 3 0 0 0 0 0 0 3
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 3
HECW2 0 0 0 3 0 0 0 3
HOXA1, HOXA2 0 0 0 3 0 0 0 3
HOXA1, LOC113748384 0 0 3 0 0 0 0 3
LMNA, LOC126805877 0 0 2 1 0 0 0 3
LOC126805612, PIK3CD 0 0 2 0 1 0 0 3
LOC126807101, WDFY3 0 0 1 1 1 0 0 3
LOC129931249, NRAS 0 0 2 1 0 0 0 3
LOC130064579, MEGF8 0 0 2 1 0 0 0 3
MKRN2, RAF1 0 0 2 1 0 0 0 3
ORC6, VPS35 0 0 1 1 2 0 0 3
PTPN11, RPL6 0 0 2 1 0 0 0 3
RIPK4 0 0 2 0 1 0 0 3
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, LOC129391267, 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 2 0 0 0 0 0 0 2
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 2 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 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 2
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 0 2
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 1 0 0 0 0 2
BCR, CCDC116, GGTLC2, GNAZ, HIC2, IGLC1, IGLL5, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RAB36, RIMBP3C, RSPH14, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 2 0 0 0 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 1 0 0 0 0 2
CDH11 0 0 0 2 0 0 0 2
CDK11B 0 0 2 0 0 0 0 2
CHN1 1 1 0 0 0 0 0 2
DLK1 0 0 2 0 0 0 0 2
GARIN4 0 0 0 2 0 0 0 2
KBTBD6-DT, KBTBD7 0 0 0 2 0 0 0 2
KCNJ8 0 1 0 1 0 0 0 2
LOC110120888, TBX1 2 0 0 0 0 0 0 2
LOC126805733, ORC1 0 0 2 0 0 0 0 2
LOC126860075, POR 1 1 1 0 0 0 0 2
LOC129930252, ZMPSTE24 0 0 2 0 0 0 0 2
LOC130063193, MAP2K2 0 0 2 0 0 0 0 2
MRPL28 0 0 0 2 0 0 0 2
NPAP1 0 0 0 2 0 0 0 2
PLCB2 0 0 0 2 0 0 0 2
PTCH2 0 0 0 2 0 0 0 2
RASA2 0 1 1 0 0 0 0 2
SCLT1 1 1 0 0 0 0 0 2
ABCA1, ACTL7A, ACTL7B, CT70, CYLC2, ELP1, FKTN, FSD1L, KLF4, LINC01492, LINC01505, LINC01509, LINC03094, LOC105376194, LOC105376196, LOC111365148, LOC111365191, LOC111429628, LOC121331340, LOC121331341, LOC121331342, LOC121811714, LOC124310619, LOC126860707, LOC126860708, LOC126860709, LOC126860710, LOC126860711, LOC126860712, LOC126860713, LOC126860714, LOC126860715, LOC126860716, LOC126860717, LOC126860718, LOC126860719, LOC126860720, LOC126860721, LOC126860722, LOC126860723, LOC128772340, LOC128822931, LOC129390104, LOC129390105, LOC129390106, LOC130002266, LOC130002267, LOC130002268, LOC130002269, LOC130002270, LOC130002271, LOC130002272, LOC130002273, LOC130002274, LOC130002275, LOC130002276, LOC130002277, LOC130002278, LOC130002279, LOC130002280, LOC130002281, LOC130002282, LOC130002283, LOC130002284, LOC130002285, LOC130002286, LOC130002287, LOC130002288, LOC130002289, LOC130002290, LOC130002291, LOC130002292, LOC130002293, LOC130002294, LOC130002295, LOC130002296, LOC130002297, LOC130002298, LOC130002299, LOC130002300, LOC130002301, LOC130002302, LOC130002303, LOC130002304, LOC130002305, LOC132089618, LOC132089619, LOC132089620, LOC132089621, LOC132089622, LOC132090796, LOC340512, MIR8081, NIPSNAP3A, NIPSNAP3B, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, RAD23B, SLC44A1, SMC2, SMC2-DT, TAL2, TMEM38B, ZNF462 1 0 0 0 0 0 0 1
ABCA3 0 0 1 0 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, ATP11B, B3GNT5, CAMK2N2, CHRD, CLCN2, DCUN1D1, DVL3, ECE2, EIF2B5, EIF4G1, EPHB3, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAGEF1, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, SOX2, SOX2-OT, THPO, VPS8, VWA5B2, YEATS2 1 0 0 0 0 0 0 1
ABR, DOC2B, GEMIN4, GLOD4, LIAT1, MRM3, NXN, RFLNB, RPH3AL, TIMM22, TLCD3A, VPS53 0 1 0 0 0 0 0 1
ACCS, ACCSL, ALKBH3, ALX4, C11orf96, CD82, EXT2, HSD17B12, TSPAN18 1 0 0 0 0 0 0 1
ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, CPT2, CYB5RL, CYP2J2, CZIB, DAB1, DHCR24, DIO1, DMRTB1, DNAJC6, DOCK7, EFCAB7, FAM151A, FGGY, FOXD3, FYB2, GLIS1, HOOK1, IFT25, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LRP8, LRRC42, MAGOH, MIR101-1, MROH7, MRPL37, MYSM1, NDC1, NFIA, OMA1, PARS2, PATJ, PCSK9, PDE4B, PGM1, PLPP3, PRKAA2, RAVER2, ROR1, SSBP3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1 1 0 0 0 0 0 0 1
ACTL6A, CCDC39, DNAJC19, FXR1, LINC01206, LINC02053, LOC101928882, LOC102724604, LOC108281177, LOC108281178, LOC110120606, LOC110120632, LOC110120734, LOC114004376, LOC123256953, LOC123256954, LOC123256955, LOC126806881, LOC126806882, LOC126806883, LOC129937982, LOC129937983, LOC129937984, LOC129937985, LOC129937986, LOC129937987, LOC129937988, LOC129937989, LOC129937990, LOC129937991, LOC129937992, LOC129937993, LOC129937994, LOC129937995, LOC129937996, LOC129937997, MRPL47, NDUFB5, PEX5L, SOX2, SOX2-OT, TTC14, TTC14-DT, USP13 1 0 0 0 0 0 0 1
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 0 0 1
ADAMTS2, ARL10, B4GALT7, CANX, CBY3, CDHR2, CLK4, CLTB, COL23A1, CPLX2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, KIAA1191, LMAN2, LTC4S, MAML1, MGAT4B, MXD3, N4BP3, NHP2, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RGS14, RMND5B, RNF44, RUFY1, SIMC1, SLC34A1, SNCB, SPATA31J1, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 0 0 1 0 0 0 0 1
ADAMTS8 0 0 1 0 0 0 0 1
ADM, AKIP1, AMPD3, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BET1L, BRSK2, C11orf16, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CIMAP1A, CNGA4, CRACR2B, CSNK2A3, CTR9, CTSD, CYB5R2, DCHS1, DEAF1, DENND2B, DENND5A, DKK3, DNHD1, DRD4, DUSP8, EIF3F, EIF4G2, EPS8L2, FHIP1B, GALNT18, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, ILK, INS, INS-IGF2, IPO7, IRAG1, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMO1, LRRC56, LSP1, LYVE1, MICAL2, MICALCL, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MTRNR2L8, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NRIP3, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PARVA, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC8A, RNF141, RNH1, RPL27A, RPLP2, RRM1, RRP8, SBF2, SCGB1C1, SCT, SCUBE2, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA3B, STIM1, STK33, SWAP70, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM41B, TMEM80, TMEM9B, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, USP47, WEE1, ZBED5, ZNF143, ZNF195, ZNF214, ZNF215 1 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 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, FAM230B, FAM230E, FAM230F, FAM230G, FAM230J, FAM246B, FAM246C, FAM247A, FAM247B, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, HSERVPRODH, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC122455341, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391262, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC129391267, LOC129391268, LOC129391269, LOC130066948, 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, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 1
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, USP18, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 1
AIFM3, CRKL, FAM230A, GGT2, KLHL22, LZTR1, MED15, P2RX6, PI4KA, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, USP41, ZNF74 1 0 0 0 0 0 0 1
AMH 0 0 0 1 0 0 0 1
ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DENND2B, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, ILK, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RNH1, RPL27A, RPLP2, RRM1, RRP8, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA3B, STIM1, STK33, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215 1 0 0 0 0 0 0 1
ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, C11orf42, CARS1, CAVIN3, CCKBR, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FHIP1B, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, ILK, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LMO1, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL17, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC8A, RNH1, RPLP2, RRM1, RRP8, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, STIM1, STK33, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM80, TNNI2, TNNT3, TOLLIP, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, ZNF195, ZNF214, ZNF215 1 0 0 0 0 0 0 1
APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, ENTREP2, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, OTUD7A, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 0 1
ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LMAN2, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 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 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 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 1
ASPH, CA8, CHD7, CLVS1, NKAIN3, RAB2A 1 0 0 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, RAB2A 0 0 1 0 0 0 0 1
ASPH, CHD7, CLVS1 1 0 0 0 0 0 0 1
ATL1, CDKL1, DMAC2L, L2HGDH, MAP4K5, NIN, SAV1, SOS2 0 0 1 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 1
ATP11B, B3GNT5, DCUN1D1, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, PARL, SOX2, SOX2-OT, YEATS2 1 0 0 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 0 1
B3GNT5, LAMP3, MCF2L2 1 0 0 0 0 0 0 1
B4GALT7, DBN1, DDX41, DOK3, F12, FAM153A, FAM193B, FGFR4, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, RAB24, RGS14, SLC34A1, TMED9, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 0 1
B4GALT7, DBN1, DDX41, DOK3, F12, FAM193B, GRK6, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, RAB24, RGS14, SLC34A1, TMED9 0 0 1 0 0 0 0 1
BCDIN3D 0 0 0 1 0 0 0 1
BCR, GGTLC2, GNAZ, IGLC1, IGLL5, RAB36, RSPH14 0 1 0 0 0 0 0 1
BRAF, LOC129999507 0 0 1 0 0 0 0 1
BRCC3 1 0 0 0 0 0 0 1
BSN 0 0 1 0 0 0 0 1
BTRC, DPCD, FBXW4, FGF8, KAZALD1, LBX1, NPM3, OGA, POLL, TLX1, TLX1NB 1 0 0 0 0 0 0 1
C12orf56, CAND1, GNS, GRIP1, HELB, HMGA2, IRAK3, KICS2, LEMD3, LINC02231, LINC02389, LINC02425, LINC02454, LLPH, LLPH-DT, LOC102724421, LOC105369187, LOC105369803, LOC110121381, LOC111365214, LOC120766155, LOC121832840, LOC121832841, LOC124629391, LOC124629392, LOC124629393, LOC124629394, LOC124629395, LOC124629399, LOC126861555, LOC126861556, LOC126861557, LOC126861558, LOC126861559, LOC129390470, LOC129390471, LOC129390472, LOC129390473, LOC129390474, LOC129390475, LOC129390476, LOC129390477, LOC130008196, LOC130008197, LOC130008198, LOC130008199, LOC130008200, LOC130008201, LOC130008202, LOC130008203, LOC130008204, LOC130008205, LOC130008206, LOC130008207, LOC130008208, LOC130008209, LOC130008210, LOC130008211, LOC130008212, LOC130008213, LOC130008214, LOC130008215, LOC130008216, LOC130008217, LOC130008218, LOC130008219, LOC130008220, LOC130008221, LOC130008222, LOC130008223, LOC130008224, LOC130008225, LOC130008226, LOC130008227, LOC130008228, LOC130008229, LOC130008230, LOC130008231, LOC130008232, LOC130008233, LOC130008234, LOC130008235, LOC130008236, LOC130008237, LOC130008238, LOC130008239, LOC130008240, LOC130008241, LOC130008242, LOC130008243, LOC130008244, LOC130008245, LOC130008246, LOC130008247, LOC130008248, MIR548C, MIR548Z, MIR6074, MIR6502, MSRB3, RASSF3, RASSF3-DT, SRGAP1, TBC1D30, TBK1, TMBIM4, WIF1, XPOT 0 0 1 0 0 0 0 1
C14orf39, SIX6 0 0 1 0 0 0 0 1
C22orf39, CDC45, CLDN5, CLTCL1, GP1BB, HIRA, MRPL40, SEPTIN5, SLC25A1, TBX1, UFD1 1 0 0 0 0 0 0 1
CACNA2D1, HGF, PCLO, SEMA3A, SEMA3D, SEMA3E 0 0 1 0 0 0 0 1
CCDC116, GGT2, HIC2, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RIMBP3B, RIMBP3C, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 1 0 0 0 0 0 0 1
CCDC116, GGTLC2, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RIMBP3C, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 1 0 0 0 0 0 0 1
CCDC116, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RIMBP3C, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 1 0 0 0 0 0 0 1
CCDC39, DNAJC19, FXR1, SOX2, SOX2-OT, TTC14 1 0 0 0 0 0 0 1
CDHR2, EIF4E1B, FAF2, FGFR4, GPRIN1, HK3, LINC01574, LOC109279841, LOC110121241, LOC114004391, LOC121099715, LOC121740633, LOC123575630, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC129389417, LOC129389418, LOC129389419, LOC129995337, LOC129995338, LOC129995339, LOC129995340, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, MIR4281, MXD3, NSD1, PRELID1, RAB24, RNF44, SNCB, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 0 1
CDK13, GLI3, INHBA, MPLKIP, RALA, SUGCT 1 0 0 0 0 0 0 1
CDKL4, MAP4K3, SOS1 0 0 1 0 0 0 0 1
CDKN1C 0 0 0 0 0 0 1 1
CHD7, LOC126860403, LOC130000466, LOC130000467, LOC130000468 1 0 0 0 0 0 0 1
CHRNG, LOC129935864 0 1 0 0 0 0 0 1
CLTC 1 0 0 0 0 0 0 1
CPE, LOC129993339 1 0 0 0 0 0 0 1
CYFIP1, GOLGA6L1, GOLGA6L2, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWRN1, PWRN2, SNRPN, TUBGCP5 1 0 0 0 0 0 0 1
DAP3, GON4L, MSTO1, RIT1, SYT11, YY1AP1 0 0 1 0 0 0 0 1
DMPK 0 0 1 0 0 0 0 1
DNAJC19, SOX2, SOX2-OT 1 0 0 0 0 0 0 1
EBF3 0 1 0 0 0 0 0 1
EP300 0 1 0 0 0 0 0 1
ERF 0 0 1 0 0 0 0 1
EXOSC2, LOC130002815 1 1 0 0 0 0 0 1
F12, FGFR4, LMAN2, LOC109279841, LOC110121284, LOC121099716, LOC121740633, LOC126807618, LOC126807619, LOC126807620, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, MXD3, NSD1, PFN3, PRELID1, RAB24, RGS14, SLC34A1, ZNF346 1 0 0 0 0 0 0 1
FBXL7 0 0 1 0 0 0 0 1
FLYWCH1 0 0 1 0 0 0 0 1
FRS3, MDFI, PGC, TFEB 0 1 0 0 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 0 0 1
GJA1, TBC1D32 0 0 1 0 0 0 0 1
GJB2 1 0 0 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 0 0 1
HNF1A 1 0 0 0 0 0 0 1
HSPB7 0 0 0 1 0 0 0 1
INTS6L 0 0 1 0 0 0 0 1
JMJD1C 0 0 1 0 0 0 0 1
KCNJ2, SOX9 1 0 0 0 0 0 0 1
KCNQ1, KCNQ1OT1, LOC106783508 1 0 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 1
KDM6B 0 0 1 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 1
KNSTRN 1 0 0 0 0 0 0 1
L2HGDH, SOS2 0 0 1 0 0 0 0 1
LMBRD1 0 0 1 0 0 0 0 1
LMNA, LOC129931597 0 0 0 0 1 0 0 1
LMNB2, LOC130063065 0 0 1 0 0 0 0 1
LMNB2, LOC130063066 0 0 1 0 0 0 0 1
LOC101927727, LOC121587569, LOC121848003, NXN 1 0 0 0 0 0 0 1
LOC108281177, LOC108281178, LOC123256955, SOX2, SOX2-OT 1 0 0 0 0 0 0 1
LOC121740633, NSD1 0 0 1 0 0 0 0 1
LOC122056894, NFIA 0 0 1 0 0 0 0 1
LOC126806366, ORC4 1 0 0 0 0 0 0 1
LOC126807619, LOC129995362, NSD1 1 0 0 0 0 0 0 1
LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 0 0 1 0 0 0 0 1
LOC129998730, SEMA3E 0 0 1 0 0 0 0 1
LOC129999303, SMO 0 0 1 0 0 0 0 1
LOC130057340, MAP2K1 0 0 0 1 0 0 0 1
LOC130065304, SNRPB 1 0 0 0 0 0 0 1
MCF2L2 1 0 0 0 0 0 0 1
MCM3 0 0 1 0 0 0 0 1
MEGF8, MIR8077 0 0 0 1 0 0 0 1
NOD2 0 0 1 0 0 0 0 1
NPIPA5 0 0 1 0 0 0 0 1
PIK3CA 1 0 0 0 0 0 0 1
PLAG1 1 0 0 0 0 0 0 1
PLXND1 0 0 1 0 0 0 0 1
PUF60 0 1 0 0 0 0 0 1
RERE 0 1 0 0 0 0 0 1
ROR2, SPTLC1 0 1 0 0 0 0 0 1
SEMA3A, SEMA3E 0 0 1 0 0 0 0 1
SNHG14, SNRPN, SNURF 1 0 0 0 0 0 0 1
TAB2 0 1 0 0 0 0 0 1
TBX3, TBX5 0 0 1 0 0 0 0 1
TNFRSF1A 1 0 0 0 0 0 0 1
TWIST2 1 0 0 0 0 0 0 1
WDR11 0 0 1 0 0 0 0 1
ZNF787 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 293
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not found not provided total
Labcorp Genetics (formerly Invitae), Labcorp 691 121 3962 4756 1007 0 0 10537
Fulgent Genetics, Fulgent Genetics 136 228 2922 607 75 0 0 3967
Illumina Laboratory Services, Illumina 11 9 1575 362 485 0 0 2436
Genome-Nilou Lab 80 31 276 243 401 0 0 1031
OMIM 400 0 1 0 0 0 0 401
Genetic Services Laboratory, University of Chicago 192 37 55 1 2 0 0 287
Baylor Genetics 106 26 139 1 0 0 0 272
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 108 21 63 9 0 0 0 201
Service de Génétique Moléculaire, Hôpital Robert Debré 15 43 87 51 0 0 0 196
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 121 54 0 0 0 0 0 175
Revvity Omics, Revvity 20 15 118 1 0 0 0 154
3billion, Medical Genetics 72 36 15 30 0 0 0 153
New York Genome Center 13 6 116 0 0 0 0 134
Neuberg Centre For Genomic Medicine, NCGM 29 21 61 0 0 0 0 111
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 3 94 3 4 0 0 107
Juno Genomics, Hangzhou Juno Genomics, Inc 51 32 19 0 0 0 0 102
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 23 2 12 17 45 0 0 99
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 35 15 36 4 1 0 0 91
Institute of Human Genetics, University of Leipzig Medical Center 44 22 22 2 0 0 0 89
Mendelics 40 7 13 8 18 0 0 86
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 32 38 1 0 0 0 0 71
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 37 29 0 0 2 0 0 68
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 9 42 0 2 0 0 68
GeneReviews 1 0 0 0 0 0 64 65
Myriad Genetics, Inc. 0 61 0 0 0 0 0 61
Clinical Genomics Laboratory, Washington University in St. Louis 8 10 40 0 0 0 0 58
MGZ Medical Genetics Center 21 13 20 0 0 0 0 54
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 35 10 6 3 0 0 0 54
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 23 5 21 4 0 0 0 52
Center for Human Genetics, Inc, Center for Human Genetics, Inc 18 11 12 8 2 0 0 51
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 27 18 0 0 0 0 0 45
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 27 14 2 1 0 0 0 44
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 26 3 6 0 6 0 0 41
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 26 8 6 1 0 0 0 41
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 23 8 10 0 0 0 0 41
Natera, Inc. 5 0 11 13 10 0 0 39
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 30 7 0 0 0 0 0 37
Molecular Genetics, Centre for Human Genetics 27 4 6 0 0 0 0 37
Genetics and Molecular Pathology, SA Pathology 20 4 6 0 0 0 0 30
Daryl Scott Lab, Baylor College of Medicine 15 3 11 0 0 0 0 29
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 17 3 9 0 0 0 0 29
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 29 0 0 0 0 0 0 29
CHU Sainte-Justine Research Center, University of Montreal 0 2 6 20 0 0 0 28
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 21 7 0 0 0 0 0 28
MVZ Medizinische Genetik Mainz 2 5 21 0 0 0 0 28
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 14 12 0 0 27
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 11 15 0 0 0 0 0 26
ClinGen RASopathy Variant Curation Expert Panel 25 1 0 0 0 0 0 26
Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia 24 0 2 0 0 0 0 26
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 19 6 0 0 0 0 0 25
University of Washington Center for Mendelian Genomics, University of Washington 0 24 0 0 0 0 0 24
Genomic Medicine Lab, University of California San Francisco 17 4 3 0 0 0 0 24
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 8 2 13 0 0 0 0 23
DASA 20 2 0 0 0 0 0 22
Institute of Human Genetics, University of Goettingen 4 9 7 1 0 0 0 21
Bicknell laboratory, University of Otago 20 0 1 0 0 0 0 21
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 7 6 8 0 0 0 0 21
Centogene AG - the Rare Disease Company 7 9 4 0 0 0 0 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 13 2 0 0 0 20
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 7 5 7 0 0 0 0 19
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 12 1 5 0 0 0 0 18
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 14 4 0 0 0 0 0 18
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 11 5 2 0 0 0 0 18
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 6 5 0 0 0 0 18
Blueprint Genetics 11 2 2 0 0 0 0 15
GenomeConnect, ClinGen 0 0 0 0 0 0 15 15
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 15 0 0 0 0 0 0 15
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 8 3 2 1 1 0 0 15
Duke University Health System Sequencing Clinic, Duke University Health System 11 1 2 0 0 0 0 14
Center of Genomic medicine, Geneva, University Hospital of Geneva 10 4 0 0 0 0 0 14
SIB Swiss Institute of Bioinformatics 1 8 3 1 1 0 0 14
Institute of Immunology and Genetics Kaiserslautern 9 3 2 0 0 0 0 14
Center for Molecular Medicine, Children’s Hospital of Fudan University 5 8 0 0 0 0 0 13
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 8 5 0 0 0 0 0 13
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 7 1 5 0 0 0 0 13
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 13 13
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 12 12
Undiagnosed Diseases Network, NIH 8 2 2 0 0 0 0 12
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 10 1 1 0 0 0 0 12
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 12 0 0 0 0 12
Institute of Human Genetics, Cologne University 4 4 3 0 0 0 0 11
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 7 3 0 0 0 0 0 10
Johns Hopkins Genomics, Johns Hopkins University 3 3 3 1 0 0 0 10
Lifecell International Pvt. Ltd 5 5 0 0 0 0 0 10
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford 3 4 3 0 0 0 0 10
Genomics England Pilot Project, Genomics England 2 8 0 0 0 0 0 10
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 7 1 1 0 0 0 0 9
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 5 4 0 0 0 0 0 9
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 7 0 2 0 0 0 0 9
Yale Center for Mendelian Genomics, Yale University 0 9 0 0 0 0 0 9
Department of Human Genetics, University Hospital Magdeburg 6 2 1 0 0 0 0 9
Laboratory of Medical Genetics, University of Torino 4 5 0 0 0 0 0 9
Clinical Genomics Laboratory, Stanford Medicine 4 0 5 0 0 0 0 9
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 7 0 2 0 0 0 0 9
UCLA Clinical Genomics Center, UCLA 4 4 0 0 0 0 0 8
Centre for Human Genetics 2 3 3 0 0 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 5 0 0 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 8
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 2 5 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 4 0 0 0 0 8
Molecular Genetics Lab, CHRU Brest 4 2 1 1 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 8 8
Provincial Medical Genetics Program of British Columbia, University of British Columbia 7 1 0 0 0 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 2 1 0 0 0 0 7
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 6 0 0 0 0 0 1 7
Phosphorus, Inc. 0 0 6 1 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 1 0 0 0 0 0 7
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 7 0 0 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 5 2 0 0 0 0 7
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 4 1 2 0 0 0 0 7
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 2 1 0 0 0 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 4 2 0 0 0 0 0 6
Clinical and Biomedical Sciences, University of Exeter 3 0 3 0 0 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 3 0 0 0 0 0 6
GenomeConnect - CFC International 0 0 0 0 0 0 6 6
Autoinflammatory diseases unit, CHU de Montpellier 5 1 0 0 0 0 0 6
Molecular Genetics Laboratory, Motol Hospital 3 3 0 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 0 4 1 0 0 0 6
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 4 2 0 0 0 0 0 6
Institute of Rare Diseases, West China Hospital, Sichuan University 2 4 0 0 0 0 0 6
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 1 1 0 0 0 0 5
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 5 0 0 0 0 0 5
Shanghai First Maternity and Infant Hospital, Tongji University 5 0 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 3 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 1 0 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 4 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 3 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 4 0 0 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 5 0 0 0 0 0 0 5
Institute of Human Genetics, University Hospital Muenster 4 0 1 0 0 0 0 5
Suma Genomics 4 1 0 0 0 0 0 5
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 5 0 0 0 0 0 0 5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 3 0 0 0 0 0 5
Solve-RD Consortium 0 5 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 0 4
Department of Medical Genetics, Oslo University Hospital 2 2 0 0 0 0 0 4
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 1 1 0 0 0 0 4
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 4 0 0 0 0 0 0 4
Department of Medical Genetics, National Institute of Health 4 0 0 0 0 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 3 0 0 0 0 0 4
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 3 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 1 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 3 0 0 0 0 4
Institute of Human Genetics, Heidelberg University 4 0 0 0 0 0 0 4
Krakow/Cohn Lab, University of California, Los Angeles 4 0 0 0 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 1 0 0 0 4
Pediatric Genetics Clinic, Sheba Medical Center 2 2 0 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 3 1 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 2 1 0 0 0 0 4
Eurofins-Biomnis 4 0 0 0 0 0 0 4
Palindrome, Gene Kavoshgaran Aria 4 0 0 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 1 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 2 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 1 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 0 3
Clinical Genetics Laboratory, Region Ostergotland 2 1 0 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 3 0 0 0 0 0 0 3
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 2 0 0 0 0 3
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 3 0 0 0 0 0 0 3
DECIPHERD-UDD, Universidad del Desarrollo 1 1 1 0 0 0 0 3
Dr.Nikuei Genetic Center 1 0 0 2 0 0 0 3
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital 2 1 0 0 0 0 0 3
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 2 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 0 2
Centre for Translational Omics - GOSgene, University College London 2 0 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 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 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 2 0 0 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 1 0 0 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 2 0 0 0 0 0 0 2
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 1 0 0 0 0 0 2
The Translational Medicine Center of Children Development and Disease, Fudan University 2 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 2
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 1 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 2 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 0 0 0 0 0 0 2
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 0 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 2 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 0 2
Departement de Genetique, Biologie Moleculaire Endocrinienne, Assistance Publique–Hôpitaux de Paris, Hopital Trousseau 0 0 2 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 2 0 0 0 0 2
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 2 0 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 1 0 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 1 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 2
Department Of Biochemistry, Hamamatsu University School Of Medicine 1 0 1 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 2
King Laboratory, University of Washington 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
Exeter Molecular Genetics Laboratory 0 1 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University 1 0 0 0 0 0 0 1
Genetic Testing Lab, University of Kentucky College of Medicine 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
Genologica Medica 0 1 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 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 0 1
Clinics for Rare Diseases Referral (Hong Kong), The University of Hong Kong 0 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Embryology Laboratory, Victor Chang Cardiac Research Institute 1 0 0 0 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Noncommunicable Diseases Research Center, Fasa University of Medical Sciences 1 0 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 1 0 0 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 1 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 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 0 0 1
Kahle Lab, Yale University 0 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 1
The Division of Genetics and Genomic Medicine, Washington University School of Medicine 0 0 1 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 0 0 1 0 0 0 0 1
Medical Genetics, American University of Beirut 1 0 0 0 0 0 0 1
Division of Critical Care, Department of Pediatrics, Cardinal Glennon Children's Hospital 1 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 1 0 0 0 0 0 0 1
Genetic Outpatient Clinic, Children's Memorial Health Institute 0 1 0 0 0 0 0 1
Human Genetics Laboratory, State University of Rio de Janeiro 0 0 1 0 0 0 0 1
Medical Genetics Department, Assistance Publique Hopitaux de Marseille 1 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 0 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 1 0 0 0 0 0 0 1
Genetics, Children's Hospital New Orleans 0 0 1 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 0 1
Institute of Medical Genetics, ASUI Udine 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 1
Department of Molecular Biology and Genetics, Acibadem University 1 0 0 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 0 1
Iowa Institute Of Oral Health Research, University of Iowa 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 1
Central Lab, Second People's Hospital of Yunnan Province 1 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 0 1
Department of Pediatrics, Prince of Songkla University 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 1 0 0 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 0 1
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 1 0 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 1 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 1
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius university 1 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 1
University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre 0 1 0 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 1
Department of Pediatrics, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 0 1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University 0 0 1 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 0 1
Medical Genetics UTHealth at Houston, UTHealth at Houston 1 0 0 0 0 0 0 1
Newman Lab, University of Manchester 1 0 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 0 0 1
Genetics Section, Pontificia Universidad Catolica De Chile 1 0 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 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 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 0 1
Department Of Medical Genetics, Apollo Hospitals 0 1 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 0 0 1
Faculty of Engineering and Natural Sciences, Biruni University 0 1 0 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.