ClinVar Miner

Variants studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
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 not provided total
683 506 1481 325 270 41 3178

Gene and significance breakdown #

Total genes and gene combinations: 102
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCA4 13 31 484 78 81 2 665
ARID1B 155 76 97 20 39 10 381
MEF2C 52 31 99 157 27 3 358
ARID1A 24 23 59 7 42 2 152
ASH1L 16 15 97 6 5 6 144
HIVEP2 19 11 78 8 2 1 118
CIC 15 13 73 8 0 0 109
TRIP12 29 16 46 1 5 2 97
ARID2 33 19 29 2 3 1 84
DLG4 46 22 15 0 1 3 72
NAA15 27 20 23 1 1 0 71
SOX11 18 41 18 0 0 0 67
MED13 10 8 43 1 2 0 64
ZBTB18 21 27 15 2 0 4 64
CLTC 21 14 21 1 2 1 58
TLK2 22 17 21 2 1 1 55
STAG1 8 14 30 3 1 2 54
TRIO 7 6 19 5 13 0 50
KMT5B 16 9 23 1 1 0 48
CAMK2B 7 4 16 6 10 0 42
KCNQ5 8 7 25 1 0 0 40
TBL1XR1 10 14 11 1 1 1 38
CAMK2A 10 11 5 0 5 0 30
NUS1 13 5 7 0 1 0 26
SMARCB1 6 11 13 0 0 1 25
DLG4, LOC126862479 18 2 3 0 1 1 23
DPP6 2 0 19 0 2 0 23
SET 9 4 7 0 2 0 22
CERT1 1 1 12 2 0 0 15
AP2M1 1 1 4 2 7 0 14
SMARCE1 3 1 9 0 0 0 13
ARID1A, LOC129929837 4 0 5 1 2 0 12
CAMK2G 1 3 3 0 5 0 12
ARID1B, LOC115308161 0 1 5 3 2 0 10
LOC126806878, TBL1XR1 1 7 4 0 0 0 10
ARID2, LOC130007728 3 1 2 1 0 0 7
ARID1A, LOC126805670 1 0 3 1 1 0 6
ARID1B, LOC129997525 0 1 3 2 0 0 6
CERT1, POLK 1 0 4 0 0 0 5
ARID1B, LOC115308161, LOC129997523 0 1 2 0 1 0 4
CLTC, LOC125177523 2 1 1 0 0 0 4
KCNQ5, KCNQ5-DT 0 1 2 0 1 0 4
KCNQ5, KCNQ5-DT, LOC129996711 0 0 3 0 1 0 4
LOC126807323, TRIO 0 0 3 0 1 0 4
LOC126862611, TLK2 3 2 0 0 0 0 4
ACADVL, DLG4 0 1 2 0 0 0 3
ARID1B, LOC115308161, LOC129997524 0 0 2 1 0 0 3
ARID1B, LOC115308161, LOC129997525 0 0 2 0 0 0 2
CIC, PAFAH1B3 0 1 1 0 0 0 2
CLTC, LOC126862609 0 1 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, C6orf120, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DLL1, DYNLT1, DYNLT2, ERMARD, ESR1, EZR, FAM120B, FBXO5, FNDC1, FRMD1, GPR31, GTF2H5, IGF2R, IPCEF1, KIF25, LINC02487, LINC02901, LOC729681, LPA, MAP3K4, MAS1, MPC1, MRPL18, MTRF1L, MYCT1, NOX3, OPRM1, PACRG, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RGS17, RMND1, RNASET2, RPS6KA2, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNX9, SOD2, SYNE1, SYNJ2, SYTL3, TAGAP, TBP, TBXT, TCP1, TFB1M, THBS2, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZBTB2, ZDHHC14 1 0 0 0 0 0 1
ACTN2, ADSS2, AHCTF1, AKT3, AKT3-IT1, ARID4B, B3GALNT2, BECN2, C1orf202, CATSPERE, CEP170, CHML, CHRM3, CNST, COX20, DESI2, EDARADD, EFCAB2, ERO1B, EXO1, FH, FMN2, GGPS1, GNG4, GPR137B, GREM2, HEATR1, HNRNPU, KIF26B, KMO, LGALS8, LINC01139, LINC01341, LINC01347, LINC01743, LINC02768, LINC02774, LOC100506929, LOC101928068, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC108004528, LOC110120698, LOC110121251, LOC110121264, LOC110121265, LOC110121266, LOC111828504, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC115804253, LOC120908922, LOC120908923, LOC120947224, LOC121725076, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC126264117, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129869688, LOC129929020, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC132088685, LOC132088686, LOC440742, LYST, MAP1LC3C, MIR1537, MIR3123, MIR4428, MIR4677, MT1HL1, MTR, NID1, OPN3, PLD5, RGS7, RYR2, SCCPDH, SDCCAG8, SMYD3, SNORA100, SPMIP3, TBCE, TFB2M, WDR64, ZBTB18, ZNF670-ZNF695, ZNF695, ZP4 1 0 0 0 0 0 1
ACTN4 0 0 0 1 0 0 1
ADGRV1, ARB2A, ARRDC3, CETN3, CRE1, LINC01339, LINC02060, LOC102724637, LOC105379082, LOC110120605, LOC110120640, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121147, LOC121079950, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC731157, LUCAT1, LYSMD3, MBLAC2, MEF2C, MIR2277, MIR3660, MIR9-2, MIR9-2HG, NR2F1, POLR3G, POU5F2, TMEM161B, TMEM161B-DT 1 0 0 0 0 0 1
ADGRV1, ARRDC3, CETN3, LUCAT1, LYSMD3, MBLAC2, MEF2C, POLR3G 1 0 0 0 0 0 1
ADSS2, AHCTF1, AKT3, AKT3-IT1, BECN2, C1orf202, CATSPERE, CEP170, CHML, CHRM3, CNST, COX20, DESI2, EFCAB2, EXO1, FH, FLJ39095, FMN2, GCSAML, GREM2, HNRNPU, KIF26B, KMO, LINC01341, LINC01347, LINC01743, LINC02774, LINC02897, LOC100506929, LOC101928068, LOC102724446, LOC110120698, LOC110121251, LOC111828504, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120947224, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, LOC129932948, LOC129932949, LOC129932950, LOC129932951, LOC129932952, LOC129932953, LOC129932954, LOC129932955, LOC129932956, LOC129932957, LOC129932958, LOC129932959, LOC129932960, LOC129932961, LOC129932962, LOC129932963, LOC129932964, LOC129932965, LOC129932966, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LOC132088685, LOC132088686, LOC440742, LYPD8, MAP1LC3C, MIR3123, MIR3124, MIR3916, MIR4677, NLRP3, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PGBD2, PLD5, RGS7, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SNORA100, SPMIP3, TFB2M, TRE-CTC2-1, TRIM58, TRL-CAA4-1, VN1R5, WDR64, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF692, ZNF692-DT, ZNF695 1 0 0 0 0 0 1
ADSS2, AHCTF1, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, FLJ39095, GCSAML, HNRNPU, KIF26B, LINC01341, LINC01743, LINC02774, LINC02897, LOC101928068, LOC102724446, LOC110120698, LOC110121251, LOC111828504, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC115804254, LOC115804255, LOC115804256, LOC120947224, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, LOC129932948, LOC129932949, LOC129932950, LOC129932951, LOC129932952, LOC129932953, LOC129932954, LOC129932955, LOC129932956, LOC129932957, LOC129932958, LOC129932959, LOC129932960, LOC129932961, LOC129932962, LOC129932963, LOC129932964, LOC129932965, LOC129932966, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LOC440742, LYPD8, MIR3124, MIR3916, MIR4677, NLRP3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, 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, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PGBD2, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SNORA100, SPMIP3, TFB2M, TRE-CTC2-1, TRIM58, TRL-CAA4-1, VN1R5, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF692, ZNF692-DT, ZNF695 1 0 0 0 0 0 1
ADSS2, AHCTF1, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, LINC01341, LINC01347, LINC01743, LINC02774, LOC101928068, LOC110120698, LOC110121251, LOC111828504, LOC112577566, LOC120947224, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC440742, MIR4677, PLD5, SCCPDH, SDCCAG8, SMYD3, SNORA100, SPMIP3, TFB2M, ZBTB18 1 0 0 0 0 0 1
ADSS2, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, LINC01347, LINC02774, LOC101928068, LOC110120698, LOC111828504, LOC112577566, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC440742, MIR4677, PLD5, SDCCAG8, SNORA100, SPMIP3, ZBTB18 1 0 0 0 0 0 1
ADSS2, AKT3, CATSPERE, CEP170, SDCCAG8, SPMIP3, ZBTB18 1 0 0 0 0 0 1
AKAP12, ARID1B, ARMT1, CCDC170, CLDN20, CNKSR3, ESR1, FBXO5, GTF2H5, IPCEF1, LINC02840, LOC102723831, LOC105378066, LOC105378068, LOC105378073, LOC111828526, LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC129389688, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129997467, LOC129997468, LOC129997469, LOC129997470, LOC129997471, LOC129997472, LOC129997473, LOC129997474, LOC129997475, LOC129997476, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC132089374, LOC132089375, LOC132090771, MIR1202, MIR12131, MIR1273C, MIR3692, MIR4466, MTHFD1L, MTRF1L, MYCT1, NOX3, OPRM1, RGS17, RMND1, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SYNE1, SYNJ2, SYNJ2-IT1, TFB1M, TIAM2, TMEM242, TMEM242-DT, TULP4, VIP, ZBTB2, ZDHHC14 1 0 0 0 0 0 1
AMOTL2, ANAPC13, BFSP2, C3orf36, CDV3, CEP63, EPHB1, KY, MSL2, PCCB, PPP2R3A, RAB6B, RYK, SLCO2A1, SRPRB, STAG1, TF, TMEM108, TOPBP1 0 1 0 0 0 0 1
ANKH, ANKRD33B, ATPSCKMT, BASP1, CCT5, CMBL, CTNND2, DAP, DNAH5, FBXL7, LINC01194, MARCHF11, MARCHF6, MYO10, OTULIN, OTULIN-DT, OTULINL, RETREG1, ROPN1L, TRIO, ZNF622 1 0 0 0 0 0 1
AP2M1, LOC123453202 0 0 1 0 0 0 1
ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CENPW, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, ECHDC1, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDAC2, HDDC2, HEY2, HINT3, HS3ST5, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LINC02523, LINC02534, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC113146413, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121740665, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC127407129, LOC128667231, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, LOC129389645, LOC129389646, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC129997115, LOC129997116, LOC129997117, LOC129997118, LOC129997119, LOC129997120, LOC129997121, LOC129997122, LOC129997123, LOC129997124, LOC129997125, LOC129997126, LOC129997127, LOC129997128, LOC129997129, LOC129997130, LOC129997131, LOC129997132, LOC129997133, LOC129997134, LOC129997135, LOC129997136, LOC129997137, LOC129997138, LOC129997139, LOC129997140, LOC129997141, LOC129997142, LOC129997143, LOC129997144, LOC129997145, LOC129997146, LOC129997147, LOC129997148, LOC129997149, LOC129997150, LOC129997151, LOC129997152, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132089333, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MARCKS, MCM9, MIR3144, MIR548B, MIR588, MROCKI, MTCL3, NCOA7, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, RFX6, RNF146, RNF217, ROS1, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SLC35F1, SMPDL3A, SOGA3-KIAA0408, TBC1D32, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAPPC3L, TRDN, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, ZUP1 1 0 0 0 0 0 1
ARID1B, LOC115308161, LOC129997522 0 0 1 0 0 0 1
ARID1B, LOC123881345 0 1 0 0 0 0 1
ARID1B, LOC129389697, LOC129389698, LOC129997538, LOC129997539, LOC129997540 1 0 0 0 0 0 1
ARID1B, TMEM242, ZDHHC14 1 0 0 0 0 0 1
ARID2, LINC00938, LOC130007727, LOC130007728 1 0 0 0 0 0 1
ARID2, SCAF11 1 0 0 0 0 0 1
ASH1L, MIR555 0 0 1 0 0 0 1
AUTS2 1 0 0 0 0 0 1
BCL11A 0 0 1 0 0 0 1
CIC, LOC130064572 0 0 1 0 0 0 1
CLTC, LOC125177523, LOC126862609, LOC130061329, PTRH2 0 1 0 0 0 0 1
CSNK2B 0 1 0 0 0 0 1
DEAF1 0 1 0 0 0 0 1
DERL3, LOC111721701, MMP11, SLC2A11, SMARCB1 0 0 1 0 0 0 1
DPF2 1 0 0 0 0 0 1
DPP6, LOC101929998 1 0 0 0 0 0 1
GNB1 0 1 0 0 0 0 1
GRIN2B 1 0 0 0 0 0 1
HR 0 0 0 0 1 0 1
IL20RB, LOC112903838, LOC123038189, LOC123038190, LOC126806819, LOC126806820, LOC129389139, LOC129937631, LOC129937632, LOC129937633, LOC129937634, LOC129937635, LOC129937636, LOC129937637, LOC129937638, LOC129937639, LOC129937640, LOC129937641, LOC129937642, MSL2, NCK1, NCK1-DT, PCCB, PPP2R3A, SLC35G2, STAG1, STAG1-DT 0 1 0 0 0 0 1
JARID2 0 1 0 0 0 0 1
LOC112903838, LOC123038189, LOC123038190, LOC126806819, LOC126806820, LOC129937631, LOC129937632, LOC129937633, LOC129937634, MSL2, PCCB, PPP2R3A, STAG1 0 1 0 0 0 0 1
LOC129389624, NUS1 1 0 0 0 0 0 1
LOC129994186, MEF2C 1 0 0 0 0 0 1
LOC130002719, SET 0 0 1 0 0 0 1
LOC130061370, TLK2 0 0 1 0 0 0 1
MEF2C, MIR9-2 1 0 0 0 0 0 1
MMP20 0 0 1 0 0 0 1
MRC2, TLK2 0 1 0 0 0 0 1
PIP5K1A 0 1 0 0 0 0 1
PRICKLE2 0 0 1 0 0 0 1
SETSIP 1 0 0 0 0 0 1
SMARCA2 0 0 1 0 0 0 1
SOX4 0 0 1 0 0 0 1
TRPM3 1 0 0 0 0 0 1
WDR1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 154
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 35 11 486 79 232 0 843
Invitae 25 9 85 157 27 0 303
Revvity Omics, Revvity 15 14 244 4 0 0 277
Baylor Genetics 39 33 133 0 0 0 205
OMIM 171 0 0 0 0 0 171
New York Genome Center 4 4 139 0 0 0 147
Institute of Human Genetics, University of Leipzig Medical Center 57 32 40 4 1 0 134
Fulgent Genetics, Fulgent Genetics 5 0 43 53 4 0 105
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 31 14 48 10 0 0 103
3billion 31 45 13 0 0 0 89
Tumer Group, Copenhagen University Hospital, Rigshospitalet 45 15 11 0 0 0 71
SIB Swiss Institute of Bioinformatics 17 37 15 0 0 0 69
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 0 36 2 0 0 46
Mendelics 23 7 10 3 1 0 44
MGZ Medical Genetics Center 4 16 13 1 0 0 34
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 23 11 0 0 0 0 34
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 19 13 0 0 0 0 32
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 15 14 1 1 1 0 32
Genetic Services Laboratory, University of Chicago 22 7 2 0 0 0 31
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 21 0 0 0 0 30
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 7 16 3 0 0 27
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 23 0 0 0 27
Illumina Laboratory Services, Illumina 10 4 12 0 0 0 26
GenomeConnect - Brain Gene Registry 0 0 0 0 0 25 25
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 10 4 10 0 0 0 24
Centogene AG - the Rare Disease Company 1 9 13 0 0 0 23
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 13 6 4 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 1 1 20 0 0 0 22
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 8 3 11 0 0 0 22
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 15 5 0 0 0 0 20
Laboratory of Medical Genetics, University of Torino 9 11 0 0 0 0 19
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 9 0 0 0 0 18
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 6 12 0 0 0 0 18
Institute of Human Genetics, University of Goettingen 3 3 10 1 0 0 17
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 2 10 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 6 4 6 0 0 0 16
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 8 0 0 0 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 9 0 0 0 13
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 7 0 0 0 0 13
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 3 10 0 0 0 13
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 9 3 0 0 0 0 12
GenomeConnect - Simons Searchlight 6 4 2 0 0 0 12
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 5 4 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 5 1 0 0 11
Molecular Genetics Lab, CHRU Brest 3 0 8 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 5 0 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 6 0 0 0 0 10
Undiagnosed Diseases Network, NIH 5 4 1 0 0 0 10
Laboratoire de Génétique Moléculaire, CHU Bordeaux 5 5 0 0 0 0 10
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 10 0 0 0 10
Genetics Department, University Hospital of Angers 10 0 0 0 0 0 10
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 5 0 0 0 0 9
Institute of Human Genetics, Cologne University 4 5 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 7 0 1 0 9
Service de Génétique Moléculaire, Hôpital Robert Debré 1 8 0 0 0 0 9
Daryl Scott Lab, Baylor College of Medicine 4 3 2 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 4 1 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 6 0 0 0 9
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 5 4 0 0 0 0 9
Pediatric Genetics Clinic, Sheba Medical Center 8 1 0 0 0 0 9
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 4 4 0 0 0 0 8
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 5 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 3 0 1 0 6
Duke University Health System Sequencing Clinic, Duke University Health System 3 3 0 0 0 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 2 0 0 0 0 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 1 0 1 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 5 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 5 0 0 0 0 5
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 4 0 0 0 5
Breda Genetics srl 0 1 4 0 0 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 2 0 0 5
Clinical Genomics Program, Stanford Medicine 2 1 2 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 2 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Department of Human Genetics, Hannover Medical School 0 0 5 0 0 0 5
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 3 1 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 0 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 1 0 0 0 0 4
Institute of Human Genetics, Heidelberg University 3 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 2 1 0 0 0 4
Suma Genomics 1 2 1 0 0 0 4
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 4 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 2 0 4
Tan Lab, Dept of Cell Biology, University of Alberta 4 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 2 1 0 0 0 3
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 2 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 1 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 1 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 2 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 1 1 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 2
Laboratory Division, Turku University Hospital 1 1 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 1 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 2 0 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centro Hospitalar S Joao, Faculty of Medicine of Porto 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 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 1
Center for Medical Genetics, Keio University School of Medicine 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1
Children's Hospital of Wisconsin Genetics Clinic, Medical College of Wisconsin 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Pediatrics, West China Second University Hospital, Sichuan University 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1
Shanghai WeHealth Biomedical Technology Company 1 0 0 0 0 0 1
UO Genetica Medica, University of Bologna 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1
Clinical Research Ward, Shanghai Children's Medical Center 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Tammimies Lab, Karolinska Institutet 0 1 0 0 0 0 1

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