Pathogenic TRs

Human disorder Gene Hg38 Hg19 Repeat units (amino acid repeat) Range of tandem repeat length Normal (expanded)*
SPD1 HOXD13 2:176093058-176093099 2:176957786-176957827 CCG (A)
SCA7 ATXN7 3:63912685-63912716 3:63898361-63898391 CAG (Q) 4–33 (37–460)*
HD HTT 4:3074877-3074968 4:3076604-3076695 CAG (Q) 6–35 (36–250)*
CCHS PHOX2B 4:41745976-41746022 4:41747993-41748039 CCG (A)
SCA12 PPP2R2B 5:146878728-146878759 5:146258291-146258322 CAG 15–50 (80–250)*
SCA1 ATXN1 6:16327634-16327724 6:16327865-16327955 CAG (Q) 6–38 (39–88)*
CCD RUNX2 6:45422749-45422793 6:45390486-45390530 CCG (A)
C9ORF72 ALS, C9ORF72 FTD and possibly other diseases C9ORF72 9:27573485-27573546 9:27573483-27573544 GGGGCC·GGCCCC 3–25 (>30)*
DRPLA ATN1 12:6936717-6936773 12:7045880-7045936 CAG (Q) 3–35 (48–93)*
SCA2 ATXN2 and ATXN2-AS 12:111598950-111599019 12:112036754-112036822 CAG·CTG (Q) 14–32 (33–200)*
SCA3 ATXN3 14:92071009-92071053 14:92537356-92537397 CAG (Q) 12–44 (55–87)*
OPMD PAPBN1 14:23321472-23321492 14:23790681-23790701 CCG
HDL2 JPH3 16:87604283-87604329 16:87637889-87637935 CTG·CAG (Q) 6–28 (41–58)*
SCA6 CACNA1A 19:13207859-13207897 19:13318673-13318711 CAG (Q) 4–18 (20–33)*
DM1 DMPK 19:45770205-45770264 19:46273463-46273522 CTG·CAG 5–34 (>50)*
SCA10 ATXN10 22:45795355-45795424 22:46191235-46191304 AATAG
CANVAS RFC1 4:39348425-39348483 4:39350045-39350103 AAAAG+
Repeat units in the form "CTG·CAG" indicate potential bidirectional transcription and thus repeat units on both strands are listed.
*Hannan, A. Tandem repeats mediating genetic plasticity in health and disease. Nat Rev Genet 19, 286–298 (2018). https://doi.org/10.1038/nrg.2017.115
+Pathogenic repeats of the RFC1 repeat in CANVAS have alternate motifs (including AAGGG) (NBK564656).