ClinVar Miner

List of variants reported as likely pathogenic for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NC_000013.11:g.(?_23353775)_(23358491_?)del
NC_000014.8:g.(?_68251766)_(68260966_?)del
NM_001278116.2(L1CAM):c.1702_1703+14del rs1603275315
NM_001278116.2(L1CAM):c.2137+1G>A rs1557091278
NM_001278116.2(L1CAM):c.3046+1G>C rs1557090220
NM_001278116.2(L1CAM):c.401-1G>A
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr) rs1603276234
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
NM_001371279.1(REEP1):c.33-2A>G rs1574077569
NM_001478.5(B4GALNT1):c.532-2A>G
NM_004187.5(KDM5C):c.1866+1G>A
NM_004187.5(KDM5C):c.1A>G (p.Met1Val) rs1569285562
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004984.4(KIF5A):c.3020+1G>T
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys) rs1060502523
NM_006517.5(SLC16A2):c.576-1G>A rs886042238
NM_007175.8(ERLIN2):c.853A>T (p.Lys285Ter)
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val) rs763958615
NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs)
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs) rs1593121507
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro)
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe) rs1593126754
NM_014363.6(SACS):c.9266C>T (p.Pro3089Leu) rs1593125290
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
NM_015346.4(ZFYVE26):c.2554-2A>G rs1186788102
NM_015346.4(ZFYVE26):c.274-2A>G rs769329153
NM_015346.4(ZFYVE26):c.2756-1G>A
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213
NM_015346.4(ZFYVE26):c.3524-1G>C
NM_015346.4(ZFYVE26):c.4798-1G>A
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_015346.4(ZFYVE26):c.5622-2A>G
NM_015346.4(ZFYVE26):c.5790+1G>A
NM_015346.4(ZFYVE26):c.6369+1G>A
NM_015346.4(ZFYVE26):c.7188+1G>T
NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter) rs1553262438
NM_020435.4(GJC2):c.85_86dup (p.Val30fs) rs1558119445
NM_020944.3(GBA2):c.1129+1G>C
NM_025137.4(SPG11):c.6404del (p.Ile2135fs)
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.