ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 22

Coded as:
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
28 28 20 2 0 4 77

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
ZBTB18 22 28 20 2 4 71
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, 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, SMYD3-IT1, SNORA100, SPMIP3, TBCE, TFB2M, WDR64, ZBTB18, ZNF670-ZNF695, ZNF695, ZP4 1 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, 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, OR9H1, PGBD2, PLD5, RGS7, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SMYD3-IT1, 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 1
ADSS2, AHCTF1, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, FLJ39095, GCSAML, HNRNPU, KIF26B, LINC01341, LINC01743, LINC02774, LINC02897, 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, OR9H1, PGBD2, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SMYD3-IT1, 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 1
ADSS2, AHCTF1, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, LINC01341, LINC01347, LINC01743, LINC02774, 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, SMYD3-IT1, SNORA100, SPMIP3, TFB2M, ZBTB18 1 0 0 0 0 1
ADSS2, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, LINC01347, LINC02774, 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 1
ADSS2, AKT3, CATSPERE, CEP170, SDCCAG8, SPMIP3, ZBTB18 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 3 1 0 0 10
OMIM 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 3 1 0 6
3billion 1 1 3 0 0 5
Baylor Genetics 0 2 2 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 4 4
Mendelics 2 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 3
New York Genome Center 1 1 1 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 2 0 0 3
Revvity Omics, Revvity 0 1 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Clinical Research Ward, Shanghai Children's Medical Center 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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