List of variants reported as pathogenic for complex hereditary spastic paraplegia by Paris Brain Institute, Inserm - ICM

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 80

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HGVS	dbSNP	gnomAD frequency
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)	rs550136320	0.00014
NM_005186.4(CAPN1):c.1605+5G>A	rs375817528	0.00012
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	rs201689565	0.00011
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)	rs142046798	0.00009
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	rs375168720	0.00006
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)	rs778722037	0.00003
NM_025137.4(SPG11):c.2834+1G>T	rs312262749	0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	rs118203963	0.00003
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	rs137852972	0.00002
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)	rs1380005347	0.00002
NM_015214.3(DDHD2):c.725G>A (p.Arg242His)	rs767497993	0.00002
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)	rs199588440	0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs)	rs312262719	0.00002
NM_001166114.2(PNPLA6):c.1456C>A (p.Pro486Thr)	rs1055816694	0.00001
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)	rs398122382	0.00001
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter)	rs756830713	0.00001
NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter)	rs201258800	0.00001
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)	rs988442865	0.00001
NM_025137.4(SPG11):c.2740C>T (p.Gln914Ter)	rs761896412	0.00001
NM_025137.4(SPG11):c.3039-5T>G	rs763224175	0.00001
NM_025137.4(SPG11):c.5866+1G>A	rs765725393	0.00001
NC_000008.10:g.(?_38090513)_(38117639_?)del
NC_000015.9:g.(44884528_44881613)_(44877833_44876757)dup
NC_000015.9:g.(44887456_44884637)_(44881449_44878049)del
NC_000015.9:g.(?_44955845)_(44918529_44914997)del
NM_001166114.2(PNPLA6):c.1362+1G>C	rs2146060616
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	rs606231167
NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn)	rs1471760048
NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro)	rs759528128
NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys)	rs1884842111
NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser)	rs2139621272
NM_005186.4(CAPN1):c.1005G>A (p.Trp335Ter)	rs1428333006
NM_005186.4(CAPN1):c.1129_1133del (p.Arg377fs)	rs1948677308
NM_005186.4(CAPN1):c.1153C>T (p.Arg385Ter)	rs955142329
NM_005186.4(CAPN1):c.1165+1G>A	rs781004578
NM_005186.4(CAPN1):c.1341G>C (p.Glu447Asp)	rs1471188671
NM_005186.4(CAPN1):c.1418_1419del (p.Arg473fs)	rs1948961118
NM_005186.4(CAPN1):c.1697dup (p.Leu566fs)	rs1948992593
NM_005186.4(CAPN1):c.1969G>T (p.Glu657Ter)	rs1949027966
NM_005186.4(CAPN1):c.254G>A (p.Trp85Ter)	rs1948565964
NM_005186.4(CAPN1):c.623G>A (p.Gly208Asp)	rs776839253
NM_006612.6(KIF1C):c.1019+1dup	rs2143323595
NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe)	rs2143312682
NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu)	rs2129726150
NM_007175.8(ERLIN2):c.819G>A (p.Lys273=)	rs779335579
NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)	rs2129728774
NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)	rs777288668
NM_015214.3(DDHD2):c.1529G>A (p.Gly510Glu)	rs2130848885
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)	rs2040001177
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)	rs773333879
NM_015346.4(ZFYVE26):c.3G>T (p.Met1Ile)	rs1392868365
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)	rs387907057
NM_015346.4(ZFYVE26):c.6610del (p.Phe2203_Ile2204insTer)	rs2140185555
NM_015346.4(ZFYVE26):c.7020_7027dup (p.Phe2343Ter)	rs2140183172
NM_020771.4(HACE1):c.239G>A (p.Cys80Tyr)	rs1319508199
NM_020944.3(GBA2):c.2166_2176del (p.Gly722_Gln723insTer)	rs2131947494
NM_020944.3(GBA2):c.2248_2249del (p.Met750fs)	rs2131945469
NM_025137.4(SPG11):c.1130del (p.His377fs)	rs2141106983
NM_025137.4(SPG11):c.1203del (p.Asp402fs)	rs312262722
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	rs312262723
NM_025137.4(SPG11):c.1293_1294insTT (p.Val432fs)	rs2141106328
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)	rs312262727
NM_025137.4(SPG11):c.1819del (p.Ser607fs)	rs1220982145
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)	rs312262735
NM_025137.4(SPG11):c.2339dup (p.Asn780fs)	rs1454768655
NM_025137.4(SPG11):c.2362dup (p.Arg788fs)	rs2141029118
NM_025137.4(SPG11):c.2849del (p.Leu950fs)	rs1470463921
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	rs312262752
NM_025137.4(SPG11):c.3447del (p.Ile1150fs)	rs2140999428
NM_025137.4(SPG11):c.3686+4A>G	rs1595865855
NM_025137.4(SPG11):c.4002-2A>G	rs2140973951
NM_025137.4(SPG11):c.4290dup (p.Leu1431fs)	rs2140972000
NM_025137.4(SPG11):c.4406_4407insTA (p.Leu1470fs)	rs2140971667
NM_025137.4(SPG11):c.5032G>T (p.Glu1678Ter)	rs1277084672
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)	rs312262770
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)	rs312262776
NM_025137.4(SPG11):c.6123dup (p.Gln2042fs)	rs2140928964
NM_025137.4(SPG11):c.6343+5G>T	rs756302161
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)	rs312262786

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