#chrom start stop id gene reference_motif_reference_orientation pathogenic_motif_reference_orientation pathogenic_min inheritance disease chr1 1371178 1371198 HMNR7_VWA1 VWA1 GGCGCGGAGC GGCGCGGAGC 1 AR Neuronopathy, distal hereditary motor, autosomal recessive 7 chr1 57832715 57832793 SCA37_DAB1 DAB1 AAAAT GAAAT 31 AD Spinocerebellar ataxia type 37 chr1 94883977 94884000 OPDM5_ABCD3 ABCD3 GCC GCC 118 AD Oculopharyngodistal myopathy type 5 chr1 145209323 145209354 NIID_NOTCH2NLC NOTCH2NLC GGC GGC 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3 chr1 155160981 155162030 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG GCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCA None AD Autosomal dominant tubulointerstitial kidney disease chr1 156561557 156561575 NME_NAXE NAXE GGGCC GGGCC 200 AR NAXE-related mitochondrial encephalopathy chr2 96862804 96862862 FAME2_STARD7 STARD7 AAAAT AAATG 274 AD Familial adult myoclonic epilepsy 2 chr2 100721260 100721286 FRA2A_AFF3 AFF3 GCC GCC 300 AD Intellectual disability associated with fragile site FRA2A chr2 176957786 176957831 SD5_HOXD13 HOXD13 GCN GCN 22 AD Syndactyly chr2 191745598 191745646 GDPAG_GLS GLS GCA GCA 680 AR Glutaminase deficiency chr3 63898360 63898391 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar ataxia type 7 chr3 128891419 128891499 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic dystrophy type 2 chr3 138664861 138664904 BPES_FOXL2 FOXL2 NGC NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis chr3 183429975 183430014 FAME4_YEATS2 YEATS2 TTTTA TTTCA 1000 AD Familial adult myoclonic epilepsy 4 chr4 3076603 3076660 HD_HTT HTT CAG CAG 36 AD Huntington disease chr4 39350044 39350103 CANVAS_RFC1 RFC1 AAAAG AAGGG,ACAGG,AGGGC,AAGGC,AGAGG 400 AR Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome chr4 41747989 41748049 CCHS_PHOX2B PHOX2B GCN GCN 26 AD Congenital central hypoventilation syndrome chr4 160263678 160263770 FAME7_RAPGEF2 RAPGEF2 TTTTA TTTCA 60 AD Familial adult myoclonic epilepsy type 7 chr5 10356455 10356523 FAME3_MARCHF6 MARCHF6 TTTTA TTTCA 791 AD Familial adult myoclonic epilepsy type 3 chr5 146258290 146258322 SCA12_PPP2R2B PPP2R2B GCT GCT 51 AD Spinocerebellar ataxia type 12 chr6 16327864 16327955 SCA1_ATXN1 ATXN1 CTG CTG 39 AD Spinocerebellar ataxia type 1 chr6 45390487 45390538 CCD_RUNX2 RUNX2 GCN GCN 20 AD Cleidocranial dysplasia chr6 170870994 170871105 SCA17_TBP TBP GCA GCA 49 AD Spinocerebellar ataxia type 17 chr7 27239297 27239351 HFG_HOXA13-III HOXA13 NGC NGC 22 AD Hand-foot-genital syndrome 3 chr7 27239444 27239480 HFG_HOXA13-II HOXA13 NGC NGC 18 AD Hand-foot-genital syndrome 2 chr7 27239543 27239585 HFG_HOXA13-I HOXA13 NGC NGC 22 AD Hand-foot-genital syndrome 1 chr7 55955293 55955332 FRA7A_ZNF713 ZNF713 GCG GCG 450 AD Autism spectrum disorder associated with fragile site FRA7A chr8 105601198 105601227 OPDM1_LRP12 LRP12 CGC CGC 85 AD Oculopharyngodistal myopathy type 1 chr8 119379051 119379157 FAME1_SAMD12 SAMD12 TAAAA TGAAA 105 AD Familial adult myoclonic epilepsy type 1 chr9 27573482 27573544 FTDALS1_C9orf72 C9orf72 GGCCCC GGCCCC 251 AD Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) chr9 71652202 71652220 FRDA_FXN FXN GAA GAA 56 AR Friedreich ataxia chr9 133556992 133557028 HSAN-VIII_PRDM12 PRDM12 GCC GCC 18 AR Hereditary sensory and autonomic neuropathy type VIII chr10 81586139 81586160 OPML1_NUTM2B-AS1 NUTM2B-AS1 GGC GGC 161 AD Oculopharyngeal myopathy with leukoencephalopathy 1 chr11 119076999 119077033 JBS_CBL CBL CGG CGG 101 AD Jacobsen syndrome (FRAX11B fragile site) chr12 7045879 7045938 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian Atrophy chr12 50898784 50898807 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type chr12 112036753 112036823 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2 chr12 124018267 124018297 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4 chr13 70713515 70713561 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8 chr13 100637702 100637748 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5 chr13 102813924 102814076 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B chr14 23790681 23790712 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy chr14 92537354 92537396 SCA3_ATXN3 ATXN3 CTG CTG 60 AD Spinocerebellar ataxia type 3/Machado-Joseph disease chr15 23086363 23086389 ALS1_NIPA1 NIPA1 GCG GCG 11 AD Amyotrophic lateral sclerosis chr15 89112664 89112683 MIR7-2_CHNG3 MIR7-2 TTTG TTTG 3 AD Nongoitrous congenital hypothyroidism-3 chr15 89876819 89876860 CPEO_POLG POLG GCT GCT None Progressive external ophthalmoplegia, Parkinson's disease chr16 17564764 17564779 DBQD2_XYLT1 XYLT1 GCC GCC 72 AR Baratela-Scott Syndrome/Desbuquois dysplasia 2 chr16 24624759 24624853 FAME6_TNRC6A TNRC6A TTTTA TTTCA 1100 AD Familial adult myoclonic epilepsy type 6 chr16 66524299 66524369 SCA31_BEAN1 BEAN1 AATAA TGGAA,TAGAA 110 AD Spinocerebellar ataxia type 31 chr16 67876765 67876853 SCA_THAP11 THAP11 CAG CAG 45 AD Spinocerebellar ataxia chr16 72821593 72821657 SCA4_ZFHX3 ZFHX3 GCC GCC 46 AD Spinocerebellar ataxia 4 chr16 87637888 87637935 HDL2_JPH3 JPH3 CTG CTG 40 AD Huntington disease-like 2 chr17 17711672 17711774 FAME8_RAI1 RAI1 TTTTA TTTCA 9 AD Familial adult myoclonic epilepsy type 8 chr17 78120808 78120938 RCPS_EIF4A3 EIF4A3 CCTCGCTGTGCCGCTGCCGA CCTCGCTGTGCCGCTGCCGA 14 AR Richieri-Costa-Pereira syndrome chr18 666891 667632 CPUM_TYMS TYMS GATGGT GATGGT 210 AR Congenital Progressive Universal Melanosis chr18 53253384 53253460 FECD3_TCF4 TCF4 CAG CAG 51 AD Fuchs endothelial corneal dystrophy 3 chr19 4510739 4513671 MRUPAV_PLIN4 PLIN4 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC 37 AD Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathy chr19 13318672 13318712 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar ataxia type 6 chr19 14606853 14606887 OPDM2_GIPC1 GIPC1 CCG CCG 73 AD Oculopharyngodistal myopathy type 2 chr19 18896844 18896860 EDM1-PSACH_COMP COMP GTC GTC 6 AD Multiple epiphyseal dysplasia, Pseudoachondroplasia chr19 46273462 46273524 DM1_DMPK DMPK CAG CAG 50 AD Myotonic dystrophy type 1 chr20 2633378 2633403 SCA36_NOP56 NOP56 GGCCTG GGCCTG 650 AD Spinocerebellar ataxia type 36 chr20 4680043 4680139 CJD_PRNP PRNP GGTGGTGGCTGGGGGCAGCCTCAT CCTCATGGTGGTGGCTGGGGGCAG 5 AD Creutzfeldt-Jakob disease chr21 45196323 45196360 EPM1_CSTB CSTB CGCGGGGCGGGG CGCGGGGCGGGG 30 AR Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD) chr22 19754285 19754330 TOF_TBX1 TBX1 GCN GCN 25 AD Tetralogy of Fallot chr22 46191234 46191304 SCA10_ATXN10 ATXN10 ATTCT ATTCT 800 AD Spinocerebellar ataxia type 10 chrX 25031646 25031682 PRTS_ARX ARX NGC NGC 20 XR Partington syndrome chrX 25031766 25031814 EIEE1_ARX ARX NGC NGC 17 XR Early-infantile epileptic encephalopathy chrX 31302674 31302722 DMD_DMD DMD TTC TTC 59 XR Duchenne muscular dystrophy chrX 66765158 66765261 SBMA_AR AR GCA GCA 38 XR Spinal and bulbar muscular atrophy, Kennedy Disease chrX 70672904 70672981 XDP_TAF1 TAF1 AGAGGG AGAGGG 35 XR X-linked dystonia-parkinsonism (XDP) a.k.a. Dystonia 3, torsion, X-linked (DYT3) chrX 136648985 136649015 VACTERLX_ZIC3 ZIC3 GCN GCN 12 XR X-linked VACTERL syndrome chrX 139586481 139586526 XLMR_SOX3 SOX3 NGC NGC 22 XR X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone chrX 146993567 146993629 FXS_FMR1 FMR1 CGG CGG 201 XD Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1 chrX 147582124 147582273 FRAXE_AFF2 AFF2 GCC GCC 201 XR Fragile X syndrome, FRAXE type