ClinVar Miner

Variants studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (37):
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
462 332 805 228 102 26 1889

Gene and significance breakdown #

Total genes and gene combinations: 79
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEF2C 53 31 100 157 27 3 360
ASH1L 16 15 102 6 5 6 149
HIVEP2 20 11 79 9 2 1 121
CIC 16 13 75 8 0 0 112
TRIP12 29 16 48 1 5 2 99
ARID2 33 19 30 2 3 1 85
CLTC 21 16 28 15 2 1 81
DLG4 46 23 16 0 1 3 74
NAA15 27 22 23 1 1 0 73
MED13 10 9 45 1 2 0 67
ZBTB18 21 27 15 2 0 4 64
TLK2 22 17 23 2 1 1 57
STAG1 8 14 30 3 1 2 54
TRIO 7 7 19 5 13 0 51
KMT5B 16 10 23 1 1 0 49
CAMK2B 7 4 16 6 10 0 42
KCNQ5 8 7 25 1 0 0 40
TBL1XR1 10 14 12 1 1 1 39
CAMK2A 10 11 5 0 5 0 30
NUS1 13 7 7 0 1 0 28
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 13 2 0 0 16
AP2M1 1 1 4 2 7 0 14
CAMK2G 1 3 5 0 5 0 14
LOC126806878, TBL1XR1 1 8 4 0 0 0 11
TAF4 5 1 1 1 0 0 8
ARID2, LOC130007728 3 1 2 1 0 0 7
CERT1, POLK 1 0 4 0 0 0 5
CLTC, LOC126862609 0 1 2 1 1 0 5
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
CIC, PAFAH1B3 0 1 1 0 0 0 2
​intergenic 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
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
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
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
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
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
TRPM3 1 0 0 0 0 0 1
WDR1 1 0 0 0 0 0 1
ZNF292 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 134
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 9 86 157 27 0 305
Revvity Omics, Revvity 7 7 161 3 0 0 178
OMIM 139 0 0 0 0 0 139
Baylor Genetics 13 20 86 0 0 0 119
New York Genome Center 3 2 103 0 0 0 108
Institute of Human Genetics, University of Leipzig Medical Center 53 21 28 3 1 0 106
Genome-Nilou Lab 1 3 15 4 65 0 88
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 11 38 9 0 0 75
Tumer Group, Copenhagen University Hospital, Rigshospitalet 45 15 11 0 0 0 71
3billion 14 23 11 0 0 0 48
Fulgent Genetics, Fulgent Genetics 1 0 5 25 4 0 35
SIB Swiss Institute of Bioinformatics 13 10 9 0 0 0 32
Neuberg Centre For Genomic Medicine, NCGM 1 1 28 0 0 0 30
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 25 1 0 0 29
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 15 13 0 0 0 0 28
Mendelics 14 4 8 2 0 0 28
MVZ Medizinische Genetik Mainz 2 7 18 0 0 0 27
PreventionGenetics, part of Exact Sciences 0 1 7 16 1 0 25
MGZ Medical Genetics Center 3 11 9 1 0 0 24
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 22 0 0 0 23
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 13 9 0 0 0 0 22
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 6 14 2 0 0 22
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 9 2 9 0 0 0 20
GenomeConnect - Brain Gene Registry 0 0 0 0 0 20 20
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 7 2 9 0 0 0 18
Centogene AG - the Rare Disease Company 0 5 12 0 0 0 17
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 12 0 0 0 0 16
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 9 6 1 0 0 0 16
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 1 9 0 0 0 15
Illumina Laboratory Services, Illumina 4 2 8 0 0 0 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 5 3 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 8 0 0 0 0 14
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 8 0 0 0 0 13
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 9 0 0 0 0 12
GenomeConnect - Simons Searchlight 6 4 2 0 0 0 12
Institute of Human Genetics, University of Goettingen 1 1 8 1 0 0 11
Clinical Genomics Laboratory, Washington University in St. Louis 0 3 8 0 0 0 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 7 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 5 1 0 0 11
Genetics and Molecular Pathology, SA Pathology 3 3 4 0 0 0 10
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 10 0 0 0 10
Laboratory of Medical Genetics, University of Torino 8 3 0 0 0 0 10
Molecular Genetics Lab, CHRU Brest 2 0 8 0 0 0 10
Genetics Department, University Hospital of Angers 10 0 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 5 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 7 0 1 0 9
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 3 0 0 0 0 9
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 5 4 0 0 0 0 9
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 4 0 0 0 0 7
Service de Génétique Moléculaire, Hôpital Robert Debré 1 6 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 4 0 0 0 0 7
Undiagnosed Diseases Network, NIH 4 2 1 0 0 0 7
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 5 0 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 3 0 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 5 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 1 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Genetic Services Laboratory, University of Chicago 3 0 2 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 0 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 3 0 0 0 5
Breda Genetics srl 0 1 4 0 0 0 5
Pediatric Genetics Clinic, Sheba Medical Center 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 0 1 0 4
Institute of Human Genetics, Cologne University 1 3 0 0 0 0 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 4 0 0 0 0 4
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 3 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 3 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 2 1 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
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 1 0 0 3
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 2 1 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 1 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 1 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 1 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 0 3 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 1 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 2 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
Dr. Nikuei Genetic Center 0 1 0 2 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 2 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 2
Suma Genomics 0 1 1 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 1 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 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
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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 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
Daryl Scott Lab, Baylor College of Medicine 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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 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
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
Clinical Genomics Program, Stanford Medicine 0 1 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
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 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
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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
Neurology Department, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1
UO Genetica Medica, University of Bologna 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
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 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
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1

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