Database of Short Tandem Repeats
Locus Repeat type Motif Region Normal Intermediate Pathogenic Inheritance Disease
ABCD3StandardGCC5′ UTR

≥118
AD
Oculopharyngodistal myopathy (OPDM)
AFF2StandardCCG5′ UTR6-25

≥200
XLR
FRAXE mental retardation (FRAXE)
ARStandardCAGCoding17-35

≥40
XLR
Spinal and bulbar muscular atrophy (SBMA)
ARX_1Imperfect GCNGCNCoding16
16


≥23
≥18
XLR
XLR
Developmental and epileptic encephalopathy-1 (DEE1)
X-linked mental retardation with or without seizures (MRXARX)
ARX_2Imperfect GCNGCNCoding12
12
12



≥20
≥20
≥23
XLR
XLR
XLR
Developmental and epileptic encephalopathy-1 (DEE1)
Partington syndrome (PRTS)
X-linked mental retardation with or without seizures (MRXARX)
ATXN10StandardATTCTIntron10-29
30-799
≥800
AD
Spinocerebellar ataxia 10 (SCA10)
ATXN8OSStandardCTG3′ UTR2-37
38-79
≥80
AD
Spinocerebellar ataxia 8 (SCA8)
ATN1StandardCAGCoding7-23

≥49
AD
Dentatorubral-pallidoluysian atrophy (DRPLA)
ATXN1StandardCAGCoding6-32
36-38
≥39
AD
Spinocerebellar ataxia 1 (SCA1)
ATXN2StandardCAGCoding13-31
32-34
≥35
AD
Spinocerebellar ataxia 2 (SCA2)
ATXN3StandardCAGCoding12-44
45-55
≥56
AD
Spinocerebellar ataxia 3 (SCA3)
ATXN7StandardCAGCoding4-35
28-35
≥36
AD
Spinocerebellar ataxia 7 (SCA7)
BEAN1NestedTGGAAIntron0

≥500
AD
Spinocerebellar ataxia 31 (SCA31)
C9ORF72StandardGGGGCCIntron1-19
20-23
≥24
AD
Amyotrophic lateral sclerosis and/or frontotemporal dementia (FTDALS1)
CACNA1AStandardCAGCoding4-18
19
≥21
AD
Spinocerebellar ataxia 6 (SCA6)
CBLStandardCCG5′ UTR8-80
85-100
≥101
NI
Jacobsen syndrome (JBS)
CNBPStandardCCTGIntron≤29
30-55
≥55
AD
Myotonic dystrophy 2 (DM2)
COMPStandardGACCoding5
5


≥6
≥7
AD
AD
Multiple epiphyseal dysplasia (EDM1)
Pseudoachondroplasia (PSACH)
CSTBVNTRCCCCGC...Promoter2-3

≥30
AR
Myoclonic epilepsy of Unverricht and Lundborg (ULD)
DAB1NestedATTTCIntron0

≥31
AD
Spinocerebellar ataxia 37 (SCA37)
DIP2BStandardCGG5′ UTR6-23

≥273
AD
Mental retardation, FRA12A type (MRFRA12A)
DMDStandardGAAIntron11-33

≥59
XLR
Duchenne muscular dystrophy (DMD)
DMPKStandardCTG3′ UTR5-34
35-49
≥50
AD
Myotonic dystrophy 1 (DM1)
EIF4A3VNTRTCGGCA...5′ UTR3-12

≥15
AR
Richieri-Costa-Pereira syndrome (RCPS)
FGF14StandardGAAIntron8-249

≥250
AD
Spinocerebellar ataxia 27B (SCA27B)
FMR1StandardCGG5′ UTR6-40
6-40
41-54
41-54
55-200
≥201
XLD
XLD
Fragile X tremor/ataxia syndrome (FXTAS)
Fragile X Syndrome (FXS)
FOXL2Imperfect GCNGCNCoding14

≥19
AD
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
FXNStandardGAAIntron5-30

≥70
AR
Friedreich ataxia (FRDA)
GIPC1StandardGGC5′ UTR12-32

≥73
AD
Oculopharyngodistal myopathy 2 (OPDM2)
GLSStandardGCA5′ UTR5-26

≥680
AR
Glutaminase deficiency with impaired intellectual development and progressive ataxia (GD)
HOXA13_1Imperfect GCNGCNCoding14

≥22
AD
Hand-foot-genital syndrome (HFG)
HOXA13_2Imperfect GCNGCNCoding12

≥18
AD
Hand-foot-genital syndrome (HFG)
HOXA13_3Imperfect GCNGCNCoding18

≥24
AD
Hand-foot-genital syndrome (HFG)
HOXD13Imperfect GCNGCNCoding15

≥22
AD
Synpolydactyly (SPD)
HTTStandardCAGCoding9-26
27-35
≥36
AD
Huntington's disease (HD)
JPH3StandardCTG3′ UTR6-27

≥41
AD
Huntington disease-like 2 (HDL2)
LRP12StandardCGG5′ UTR13-45

≥93
AD
Oculopharyngodistal myopathy 1 (OPDM1)
MARCHF6NestedTTTCAIntron0

≥668
AD
Familial adult myoclonic epilepsy 3 (FAME3)
NIPA1StandardGCG5′ UTR6-10

≥11
AD
Amyotrophic lateral sclerosis (ALS)
NOTCH2NLCStandardGGC5′ UTR7-39
4-41


≥90
≥60
AD
AD
Neuronal intranuclear inclusion disease (NIID)
Hereditary essential tremor type 6 (ETM6)
NOP56StandardGGCCTGIntron3-14

≥25
AD
Spinocerebellar ataxia 36 (SCA36)
NUTM2B-AS1StandardCGGNoncoding transcript3-16

≥700
AD
Oculopharyngeal myopathy with leukoencephalopathy 1 (OPML1)
PABPN1StandardGCGCoding6

≥7
AD or AR
Oculopharyngeal muscular dystrophy (OPMD)
PHOX2BImperfect GCNGCNCoding20

≥24
AD
Central hypoventilation syndrome (CCHS)
PPP2R2BStandardCAG5′ UTR7-31

≥51
AD
Spinocerebellar ataxia 12 (SCA12)
PRNPVNTRCCTCAT...Coding5

≥10
AD
Creutzfeldt-Jakob Disease (CJD)
PRDM12StandardGCCCoding≤14

≥18
AR
Hereditary sensory and autonomic neuropathy type VIII (HSAN8)
RAPGEF2NestedTTTCAIntron0

≥60
AD
Familial adult myoclonic epilepsy 7 (FAME7)
RFC1ReplacedAAGGG
...
Intron0

≥400
AR
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)
RILPL1StandardGGC5′ UTR4-20

≥135
AD
Oculopharyngodistal myopathy 4 (OPDM4)
RUNX2Imperfect GCNGCNCoding17

≥20
AD
Cleidocranial dysplasia (CCD)
SAMD12NestedTTTCAIntron0

≥100
AD
Familial adult myoclonic epilepsy 1 (FAME1)
SOX3Imperfect GCNGCNCoding15
15


≥26
≥22
XLR
XLR
X-linked mental retardation with isolated growth hormone (XLMR)
X-linked panhypopituitarism (PHPX)
STARD7NestedATTTCIntron0

≥274
AD
Familial adult myoclonic epilepsy 2 (FAME2)
TBPStandardCAGCoding25-42

≥43
AD
Spinocerebellar ataxia 17 (SCA17)
TBX1Imperfect GCNGCNCoding15

≥25
AD
Tetralogy of Fallot (TOF)
TCF4StandardCTGIntron≤31

≥50
AD
Fuchs endothelial corneal dystrophy-3 (FECD3)
THAP11StandardCAGCoding20-38

≥47
AD
Spinocerebellar ataxia (SCA)
TNRC6ANestedTTTCAIntron0

≥1100
AD
Familial adult myoclonic epilepsy 6 (FAME6)
VWA1VNTRGGCGCG...Coding2

≥3
AR
Hereditary motor neuropathy (HMNR7)
XYLT1StandardGGC5′ UTR9-20

≥110
AR
Desbuquois dysplasia-2 (DBQD2)
YEATS2NestedTTTCAIntron0

≥1000
AD
Familial adult myoclonic epilepsy 4 (FAME4)
ZFHX3StandardGGCCoding14-31

≥42
AD
Spinocerebellar ataxia 4 (SCA4)
ZIC2Imperfect GCNGCNCoding15

≥25
AD
Holoprosencephaly 5 (HPE5)
ZIC3StandardGCCCoding10

≥12
XLR
X-linked VACTERL syndrome (VACTERLX)