Human Genetic Variation Database (HGVD)

pathSTR

HTML reports generated by pathSTR for repeat-expansion–associated disorders.

ABCD3_OPDMOPDM
GIPC1_OPDM2OPDM
LRP12_OPDM1OPDM
RILPL1_OPDM4OPDM
NUTM2B-AS1_OPML1OPML
PABPN1_OPMDOPMD
ATXN1_SCA1SCA
ATXN2_SCA2SCA
ATXN3_SCA3SCA
ZFHX3_SCA4SCA
CACNA1A_SCA6SCA
ATXN7_SCA7SCA
ATXN8OS_SCA8SCA
ATXN10_SCA10SCA
PPP2R2B_SCA12SCA
TBP_SCA17SCA
FGF14_SCA27BSCA
BEAN1_SCA31SCA
NOP56_SCA36SCA
DAB1_SCA37SCA
THAP11_SCASCA
DMPK_DM1DM
CNBP_DM2DM
SAMD12_FAME1FAME
STARD7_FAME2FAME
MARCHF6_FAME3FAME
YEATS2_FAME4FAME
TNRC6A_FAME6FAME
RAPGEF2_FAME7FAME
FMR1_FXSFRA
AFF2_FRAXEFRA
AFF3_FRA2AFRA
DIP2B_FRA12AFRA
ZNF713_FRA7AFRA
ATN1_DRPLADRPLA
C9orf72_FTDALS1FTD/ALS
FXN_FRDAFRDA
HTT_HDHD
JPH3_HDL2HDL2
NOTCH2NLC_NIIDNIID
RFC1_CANVASCANVAS
RFC1_CANVAS_6merCANVAS
PRNP_CJDCJD
AR_SBMASBMA
NIPA1_ALS1ALS
POLG_CPEOCPEO
CSTB_EPM1EPM1
CBL_JBSJBS
COMP_EDM1-PSACHEDM/PSACH
DMD_DMDDMD
EIF4A3_RCPSRCPS
FOXL2_BPESBPES
GLS_GDPAGGDPAG
HOXA13-I_HFGHFG
HOXA13-II_HFGHFG
HOXA13-III_HFGHFG
HOXD13_SD5SD5
PHOX2B_CCHSCCHS
PRDM12_HSAN-VIIIHSAN
RUNX2_CCDCCD
SOX3_XLMRXLMR
TBX1_TOFTOF
TCF4_FECD3FECD3
VWA1_HMNR7HMNR7
XYLT1_DBQD2DBQD2
ZIC2_HPE5HPE5
ZIC3_VACTERLXVACTERL

Reference

De Coster W, et al. Genome Research (2024). DOI: 10.1101/gr.279265.124

Gustafson JA, et al. Genome Research (2024). DOI: 10.1101/gr.279273.124