List of variants in gene SPG11 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	rs201689565	0.00011
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)	rs140385286	0.00005
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)	rs756134516	0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)	rs312262725	0.00004
NM_025137.4(SPG11):c.2834+1G>T	rs312262749	0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	rs118203963	0.00003
NM_025137.4(SPG11):c.616dup (p.Thr206fs)	rs756103019	0.00003
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	rs141848292	0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs)	rs312262719	0.00002
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)	rs765061840	0.00001
NM_025137.4(SPG11):c.2316+1G>A	rs312262740	0.00001
NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter)	rs1060501173	0.00001
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)	rs312262767	0.00001
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs)	rs779321661	0.00001
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	rs200793464	0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)	rs312262775	0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)	rs769898852	0.00001
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)	rs312262785	0.00001
NM_025137.4(SPG11):c.796C>T (p.Gln266Ter)	rs1234882277	0.00001
NM_025137.4(SPG11):c.2068-2A>T	rs1555456457
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	rs312262737
NM_025137.4(SPG11):c.2265del (p.Gln755fs)	rs1215058780
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	rs312262709
NM_025137.4(SPG11):c.2849dup (p.Leu950fs)	rs1470463921
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)	rs786204176
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer)	rs1555454508
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	rs312262752
NM_025137.4(SPG11):c.3311dup (p.Asn1104fs)	rs753257469
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer)	rs768131119
NM_025137.4(SPG11):c.3686+2T>A	rs1555451983
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs)	rs750663981
NM_025137.4(SPG11):c.4777del (p.Ile1593fs)	rs1064797055
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)	rs312262770
NM_025137.4(SPG11):c.5769dup (p.Met1924fs)	rs1595842556
NM_025137.4(SPG11):c.5842dup (p.Ile1948fs)	rs1555448810
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	rs147713329
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)	rs312262782
NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs)	rs780301639

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