ClinVar Miner

Variants studied for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

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
8 7 32 44 14 3 104

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AKT3 5 7 29 44 14 3 98
AKT3, SDCCAG8 1 0 1 0 0 0 2
ACTN2, AGT, AKT3, ARID4B, ARV1, B3GALNT2, BECN2, C1orf131, C1orf198, CAPN9, CEP170, CHML, CHRM3, COA6, COG2, DISC1, DISC1-IT1, DISC2, EDARADD, EGLN1, ERO1B, EXO1, EXOC8, FAM89A, FH, FMN2, GALNT2, GGPS1, GNG4, GNPAT, GPR137B, GREM2, HEATR1, IRF2BP2, KCNK1, KMO, LGALS8, LINC00184, LINC00582, LINC01132, LINC01139, LINC01347, LINC01348, LINC01354, LINC01737, LINC01744, LINC01745, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927604, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC108004528, LOC110121205, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC111365197, LOC111365208, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC121725076, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122526782, LOC126264117, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129869688, LOC129929020, LOC129932752, LOC129932753, LOC129932754, LOC129932755, LOC129932756, LOC129932757, LOC129932758, LOC129932759, LOC129932760, LOC129932761, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932775, LOC129932776, LOC129932777, LOC129932778, LOC129932779, LOC129932780, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, 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, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090677, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR4427, MIR4428, MIR4671, MIR4677, MIR4753, MT1HL1, MTR, NID1, NTPCR, OPN3, PCNX2, PGBD5, PLD5, RBM34, RGS7, RYR2, SDCCAG8, SIPA1L2, SLC35F3, SNORA14B, SPRTN, TARBP1, TBCE, TOMM20, TRIM67, TSNAX, TSNAX-DISC1, TTC13, WDR64, ZP4 1 0 0 0 0 0 1
ADSS2, AKT3, CATSPERE, CEP170, CHML, COX20, DESI2, EXO1, FH, HNRNPU, KMO, MAP1LC3C, OPN3, PLD5, SDCCAG8, SPMIP3, WDR64, ZBTB18 0 0 1 0 0 0 1
AKT3, AKT3-IT1, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC129388799, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC440742, MIR4677, PLD5, SDCCAG8, SPMIP3, ZBTB18 1 0 0 0 0 0 1
AKT3, CEP170, SDCCAG8 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 2 28 44 14 0 90
OMIM 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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