List of variants in gene SPG11 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 44

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)	rs114945876	0.00165
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)	rs145643238	0.00103
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)	rs145132275	0.00026
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)	rs375363608	0.00025
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)	rs200220848	0.00022
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln)	rs201721414	0.00016
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr)	rs144012151	0.00013
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp)	rs368992436	0.00006
NM_025137.4(SPG11):c.1248G>T (p.Met416Ile)	rs371310453	0.00004
NM_025137.4(SPG11):c.1030T>C (p.Ser344Pro)	rs1235556400	0.00003
NM_025137.4(SPG11):c.3894C>T (p.Ala1298=)	rs1352070054	0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr)	rs775877332	0.00003
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly)	rs147713329	0.00003
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met)	rs758008249	0.00003
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr)	rs199873327	0.00002
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr)	rs1331463203	0.00001
NM_025137.4(SPG11):c.150G>C (p.Gln50His)	rs745498485	0.00001
NM_025137.4(SPG11):c.2966A>G (p.His989Arg)	rs752882400	0.00001
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser)	rs758322703	0.00001
NM_025137.4(SPG11):c.3134G>A (p.Ser1045Asn)	rs749192217	0.00001
NM_025137.4(SPG11):c.3221G>C (p.Ser1074Thr)	rs758982525	0.00001
NM_025137.4(SPG11):c.3453+5A>G	rs983973496	0.00001
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His)	rs373641013	0.00001
NM_025137.4(SPG11):c.6718C>T (p.Arg2240Cys)	rs146937747	0.00001
NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs)	rs532737377	0.00001
NM_025137.4(SPG11):c.7321C>A (p.Leu2441Ile)	rs1313297244	0.00001
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser)	rs777798718	0.00001
NM_025137.4(SPG11):c.1603-5T>C	rs2084149728
NM_025137.4(SPG11):c.251T>G (p.Phe84Cys)	rs2085177672
NM_025137.4(SPG11):c.2621-6A>G
NM_025137.4(SPG11):c.2641G>A (p.Glu881Lys)	rs1595889023
NM_025137.4(SPG11):c.2719C>A (p.His907Asn)	rs1411461951
NM_025137.4(SPG11):c.2903G>A (p.Gly968Glu)
NM_025137.4(SPG11):c.3271T>G (p.Ser1091Ala)	rs2141004955
NM_025137.4(SPG11):c.4123ATT[1] (p.Ile1376del)	rs2140973530
NM_025137.4(SPG11):c.5121+7_5121+9del	rs1567139976
NM_025137.4(SPG11):c.6303G>A (p.Leu2101=)	rs1595826884
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg)	rs751929116
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr)	rs1567129561
NM_025137.4(SPG11):c.636T>A (p.Ile212=)	rs1595937717
NM_025137.4(SPG11):c.6755A>C (p.Glu2252Ala)	rs1555446548
NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu)	rs146914461
NM_025137.4(SPG11):c.782C>T (p.Ser261Leu)	rs765477482
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile)	rs75309308

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