Database of Short Tandem Repeats
Locus Repeat type Motif Region Path. repeats Disease
AFF2StandardCCG5′ UTR≥200
FRAXE mental retardation (FRAXE)
ARStandardCAGCoding≥40
Spinal and bulbar muscular atrophy (SBMA)
ARX_1Imperfect GCNGCNCoding≥20
≥20
≥23
Developmental and epileptic encephalopathy-1 (DEE1)
Partington syndrome (PRTS)
X-linked mental retardation with or without seizures (MRXARX)
ARX_2Imperfect GCNGCNCoding≥23
≥18
Developmental and epileptic encephalopathy-1 (DEE1)
X-linked mental retardation with or without seizures (MRXARX)
ATXN10StandardATTCTIntron≥800
Spinocerebellar ataxia 10 (SCA10)
ATXN8OSStandardCTG3′ UTR≥80
Spinocerebellar ataxia 8 (SCA8)
ATN1StandardCAGCoding≥49
Dentatorubral-pallidoluysian atrophy (DRPLA)
ATXN1StandardCAGCoding≥39
Spinocerebellar ataxia 1 (SCA1)
ATXN2StandardCAGCoding≥35
Spinocerebellar ataxia 2 (SCA2)
ATXN3StandardCAGCoding≥56
Spinocerebellar ataxia 3 (SCA3)
ATXN7StandardCAGCoding≥36
Spinocerebellar ataxia 7 (SCA7)
BEAN1NestedTGGAAIntron≥500
Spinocerebellar ataxia 31 (SCA31)
C9ORF72StandardGGGGCCIntron≥31
Amyotrophic lateral sclerosis and/or frontotemporal dementia (FTDALS1)
CACNA1AStandardCAGCoding≥21
Spinocerebellar ataxia 6 (SCA6)
CBLStandardCCG5′ UTR≥101
Jacobsen syndrome (JBS)
CNBPStandardCCTGIntron≥55
Myotonic dystrophy 2 (DM2)
COMPStandardGACCoding≥6
≥7
Multiple epiphyseal dysplasia (EDM1)
Pseudoachondroplasia (PSACH)
DAB1NestedATTTCIntron≥31
Spinocerebellar ataxia 37 (SCA37)
DIP2BStandardCGG5′ UTR≥150
Mental retardation, FRA12A type (MRFRA12A)
DMDStandardGAAIntron≥59
Duchenne muscular dystrophy (DMD)
DMPKStandardCTG3′ UTR≥50
Myotonic dystrophy 1 (DM1)
FMR1StandardCGG5′ UTR55-200
≥201
Fragile X tremor/ataxia syndrome (FXTAS)
Fragile X Syndrome (FXS)
FOXL2Imperfect GCNGCNCoding≥19
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
FXNStandardGAAIntron≥70
Friedreich ataxia (FRDA)
GIPC1StandardGGC5′ UTR≥73
Oculopharyngodistal myopathy 2 (OPDM2)
GLSStandardGCA5′ UTR≥680
Glutaminase deficiency with impaired intellectual development and progressive ataxia (GD)
HOXA13_1Imperfect GCNGCNCoding≥22
Hand-foot-genital syndrome (HFG)
HOXA13_2Imperfect GCNGCNCoding≥18
Hand-foot-genital syndrome (HFG)
HOXA13_3Imperfect GCNGCNCoding≥24
Hand-foot-genital syndrome (HFG)
HOXD13Imperfect GCNGCNCoding≥22
Synpolydactyly (SPD)
HTTStandardCAGCoding≥36
Huntington's disease (HD)
JPH3StandardCTG3′ UTR≥41
Huntington disease-like 2 (HDL2)
LRP12StandardCGG5′ UTR≥93
Oculopharyngodistal myopathy 1 (OPDM1)
MARCH6NestedTTTCAIntron≥668
Familial adult myoclonic epilepsy 3 (FAME3)
NIPA1StandardGCG5′ UTR≥11
Amyotrophic lateral sclerosis (ALS)
NOTCH2NLCStandardGGC5′ UTR≥90
≥60
Neuronal intranuclear inclusion disease (NIID)
Hereditary essential tremor type 6 (ETM6)
NOP56StandardGGCCTGIntron≥25
Spinocerebellar ataxia 36 (SCA36)
NUTM2B-AS1StandardCGGNoncoding transcript≥700
Oculopharyngeal myopathy with leukoencephalopathy 1 (OPML1)
PABPN1StandardGCGCoding≥7
Oculopharyngeal muscular dystrophy (OPMD)
PHOX2BImperfect GCNGCNCoding≥24
Central hypoventilation syndrome (CCHS)
PPP2R2BStandardCAG5′ UTR≥51
Spinocerebellar ataxia 12 (SCA12)
PRDM12StandardGCCCoding≥18
Hereditary sensory and autonomic neuropathy type VIII (HSAN8)
RAPGEF2NestedTTTCAIntron≥60
Familial adult myoclonic epilepsy 7 (FAME7)
RFC1ReplacedAAGGGIntron≥400
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)
RUNX2Imperfect GCNGCNCoding≥27
Cleidocranial dysplasia (CCD)
SAMD12NestedTTTCAIntron≥100
Familial adult myoclonic epilepsy 1 (FAME1)
SOX3Imperfect GCNGCNCoding≥26
≥22
X-linked mental retardation with isolated growth hormone (XLMR)
X-linked panhypopituitarism (PHPX)
STARD7NestedATTTCIntron≥274
Familial adult myoclonic epilepsy 2 (FAME2)
TBPStandardCAGCoding≥43
Spinocerebellar ataxia 17 (SCA17)
TBX1Imperfect GCNGCNCoding≥25
Tetralogy of Fallot (TOF)
TCF4StandardCTGIntron≥50
Fuchs endothelial corneal dystrophy-3 (FECD3)
TNRC6ANestedTTTCAIntron≥1100
Familial adult myoclonic epilepsy 6 (FAME6)
XYLT1StandardGGC5′ UTR≥110
Desbuquois dysplasia-2 (DBQD2)
YEATS2NestedTTTCAIntron≥1000
Familial adult myoclonic epilepsy 4 (FAME4)
ZIC2Imperfect GCNGCNCoding≥25
Holoprosencephaly 5 (HPE5)
ZIC3StandardGCCCoding≥12
X-linked VACTERL syndrome (VACTERLX)