#chrom start stop id gene reference_motif_reference_orientation pathogenic_motif_reference_orientation pathogenic_min inheritance disease chr1 870158 870178 HMNR7_VWA1 VWA1 GGCGCGGAGC GGCGCGGAGC 1 AR Neuronopathy, distal hereditary motor, autosomal recessive 7 chr1 57245935 57245973 SCA37_DAB1 DAB1 AAAAT GAAAT 31 AD Spinocerebellar ataxia type 37 chr1 94266544 94266567 OPDM5_ABCD3 ABCD3 GCC GCC 118 AD Oculopharyngodistal myopathy type 5 chr1 148519695 148519738 NIID_NOTCH2NLC NOTCH2NLC GGC GGC 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3 chr1 154328121 154330802 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG GCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCA None AD Autosomal dominant tubulointerstitial kidney disease chr1 155728131 155728159 NME_NAXE NAXE GGGCC GGGCC 200 AR NAXE-related mitochondrial encephalopathy chr2 96703674 96703732 FAME2_STARD7 STARD7 AAAAT AAATG 274 AD Familial adult myoclonic epilepsy 2 chr2 100563685 100563738 FRA2A_AFF3 AFF3 GCC GCC 300 AD Intellectual disability associated with fragile site FRA2A chr2 176581179 176581224 SD5_HOXD13 HOXD13 GCN GCN 22 AD Syndactyly chr2 191369982 191370024 GDPAG_GLS GLS GCA GCA 680 AR Glutaminase deficiency chr3 63956302 63956333 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar ataxia type 7 chr3 131917482 131917557 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic dystrophy type 2 chr3 141687011 141687054 BPES_FOXL2 FOXL2 NGC NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis chr3 186521667 186521706 FAME4_YEATS2 YEATS2 TTTTA TTTCA 1000 AD Familial adult myoclonic epilepsy 4 chr4 3073603 3073687 HD_HTT HTT CAG CAG 36 AD Huntington disease chr4 39318077 39318136 CANVAS_RFC1 RFC1 AAAAG AAGGG,ACAGG,AGGGC,AAGGC,AGAGG 400 AR Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome chr4 41719745 41719805 CCHS_PHOX2B PHOX2B GCN GCN 26 AD Congenital central hypoventilation syndrome chr4 162693303 162693405 FAME7_RAPGEF2 RAPGEF2 TTTTA TTTCA 60 AD Familial adult myoclonic epilepsy type 7 chr5 10295525 10295593 FAME3_MARCHF6 MARCHF6 TTTTA TTTCA 791 AD Familial adult myoclonic epilepsy type 3 chr5 147414733 147414780 SCA12_PPP2R2B PPP2R2B GCT GCT 51 AD Spinocerebellar ataxia type 12 chr6 16200188 16200282 SCA1_ATXN1 ATXN1 CTG CTG 39 AD Spinocerebellar ataxia type 1 chr6 45257567 45257618 CCD_RUNX2 RUNX2 GCN GCN 20 AD Cleidocranial dysplasia chr6 171935458 171935569 SCA17_TBP TBP GCA GCA 49 AD Spinocerebellar ataxia type 17 chr7 27335684 27335720 HFG_HOXA13-III HOXA13 NGC NGC 22 AD Hand-foot-genital syndrome 3 chr7 27335813 27335849 HFG_HOXA13-II HOXA13 NGC NGC 18 AD Hand-foot-genital syndrome 2 chr7 27335912 27335954 HFG_HOXA13-I HOXA13 NGC NGC 22 AD Hand-foot-genital syndrome 1 chr7 56047900 56047939 FRA7A_ZNF713 ZNF713 GCG GCG 450 AD Autism spectrum disorder associated with fragile site FRA7A chr8 105716409 105716441 OPDM1_LRP12 LRP12 CGC CGC 85 AD Oculopharyngodistal myopathy type 1 chr8 119495247 119495353 FAME1_SAMD12 SAMD12 TAAAA TGAAA 105 AD Familial adult myoclonic epilepsy type 1 chr9 27584063 27584155 FTDALS1_C9orf72 C9orf72 GGCCCC GGCCCC 251 AD Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) chr9 81210834 81210861 FRDA_FXN FXN GAA GAA 56 AR Friedreich ataxia chr9 142886568 142886595 HSAN-VIII_PRDM12 PRDM12 GCC GCC 18 AR Hereditary sensory and autonomic neuropathy type VIII chr10 80695718 80695748 OPML1_NUTM2B-AS1 NUTM2B-AS1 GGC GGC 161 AD Oculopharyngeal myopathy with leukoencephalopathy 1 chr11 119226662 119226696 JBS_CBL CBL CGG CGG 101 AD Jacobsen syndrome (FRAX11B fragile site) chr12 6947903 6947941 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian Atrophy chr12 50468095 50468118 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type chr12 111575873 111575940 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2 chr12 123532573 123532603 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4 chr13 69361243 69361270 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8 chr13 99196358 99196404 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5 chr13 101377549 101377792 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B chr14 17522488 17522519 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy chr14 86300519 86300603 SCA3_ATXN3 ATXN3 CTG CTG 60 AD Spinocerebellar ataxia type 3/Machado-Joseph disease chr15 20458510 20458536 ALS1_NIPA1 NIPA1 GCG GCG 11 AD Amyotrophic lateral sclerosis chr15 86324038 86324057 MIR7-2_CHNG3 MIR7-2 TTTG TTTG 3 AD Nongoitrous congenital hypothyroidism-3 chr15 87088411 87088452 CPEO_POLG POLG GCT GCT None Progressive external ophthalmoplegia, Parkinson's disease chr16 17477909 17478002 DBQD2_XYLT1 XYLT1 GCC GCC 72 AR Baratela-Scott Syndrome/Desbuquois dysplasia 2 chr16 24890366 24890430 FAME6_TNRC6A TNRC6A TTTTA TTTCA 1100 AD Familial adult myoclonic epilepsy type 6 chr16 72284666 72284761 SCA31_BEAN1 BEAN1 AATAA TGGAA,TAGAA 110 AD Spinocerebellar ataxia type 31 chr16 73638636 73638724 SCA_THAP11 THAP11 CAG CAG 45 AD Spinocerebellar ataxia chr16 78605502 78605569 SCA4_ZFHX3 ZFHX3 GCC GCC 46 AD Spinocerebellar ataxia 4 chr16 93675723 93675776 HDL2_JPH3 JPH3 CTG CTG 40 AD Huntington disease-like 2 chr17 17754961 17755053 FAME8_RAI1 RAI1 TTTTA TTTCA 9 AD Familial adult myoclonic epilepsy type 8 chr17 81047404 81047534 RCPS_EIF4A3 EIF4A3 CCTCGCTGTGCCGCTGCCGA CCTCGCTGTGCCGCTGCCGA 14 AR Richieri-Costa-Pereira syndrome chr18 821235 821905 CPUM_TYMS TYMS GATGGT GATGGT 210 AR Congenital Progressive Universal Melanosis chr18 55789233 55789288 FECD3_TCF4 TCF4 CAG CAG 51 AD Fuchs endothelial corneal dystrophy 3 chr19 4494212 4497342 MRUPAV_PLIN4 PLIN4 TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC 37 AD Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathy chr19 13333136 13333176 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar ataxia type 6 chr19 14622655 14622692 OPDM2_GIPC1 GIPC1 CCG CCG 73 AD Oculopharyngodistal myopathy type 2 chr19 18921630 18921645 EDM1-PSACH_COMP COMP GTC GTC 6 AD Multiple epiphyseal dysplasia, Pseudoachondroplasia chr19 48597739 48597756 DM1_DMPK DMPK CAG CAG 50 AD Myotonic dystrophy type 1 chr20 2683189 2683230 SCA36_NOP56 NOP56 GGCCTG GGCCTG 650 AD Spinocerebellar ataxia type 36 chr20 4738633 4738705 CJD_PRNP PRNP GGTGGTGGCTGGGGGCAGCCTCAT CCTCATGGTGGTGGCTGGGGGCAG 5 AD Creutzfeldt-Jakob disease chr21 42132054 42132091 EPM1_CSTB CSTB CGCGGGGCGGGG CGCGGGGCGGGG 30 AR Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD) chr22 20143615 20143660 TOF_TBX1 TBX1 GCN GCN 25 AD Tetralogy of Fallot chr22 46280059 46280134 SCA10_ATXN10 ATXN10 ATTCT ATTCT 800 AD Spinocerebellar ataxia type 10 chrX 24597766 24597802 PRTS_ARX ARX NGC NGC 20 XR Partington syndrome chrX 24597886 24597934 EIEE1_ARX ARX NGC NGC 17 XR Early-infantile epileptic encephalopathy chrX 30882677 30882743 DMD_DMD DMD TTC TTC 59 XR Duchenne muscular dystrophy chrX 65975147 65975250 SBMA_AR AR GCA GCA 38 XR Spinal and bulbar muscular atrophy, Kennedy Disease chrX 69887153 69887230 XDP_TAF1 TAF1 AGAGGG AGAGGG 35 XR X-linked dystonia-parkinsonism (XDP) a.k.a. Dystonia 3, torsion, X-linked (DYT3) chrX 135876774 135876804 VACTERLX_ZIC3 ZIC3 GCN GCN 12 XR X-linked VACTERL syndrome chrX 138816203 138816248 XLMR_SOX3 SOX3 NGC NGC 22 XR X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone chrX 146176677 146176769 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 146765190 146765342 FRAXE_AFF2 AFF2 GCC GCC 201 XR Fragile X syndrome, FRAXE type