List of variants in gene SPG7 reported as likely pathogenic for Hereditary spastic paraplegia 7

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: 102

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00103
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	rs121918358	0.00014
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	rs752623413	0.00006
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)	rs562890289	0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)	rs769602042	0.00004
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)	rs369503365	0.00004
NM_003119.4(SPG7):c.861+2dup	rs771256761	0.00004
NM_003119.4(SPG7):c.1553-2_1553-1del	rs772828460	0.00003
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)	rs1373388852	0.00002
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer)	rs763413730	0.00002
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)	rs537421502	0.00001
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)	rs748555510	0.00001
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)	rs946925151	0.00001
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)	rs72547552	0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)	rs1329063851	0.00001
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)	rs2058661391	0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)	rs864622094	0.00001
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)	rs879253797	0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs)	rs1217391623	0.00001
NM_003119.4(SPG7):c.376+1G>T	rs746053679	0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)	rs370777371	0.00001
NM_003119.4(SPG7):c.759-2A>G	rs770299071	0.00001
NM_003119.4(SPG7):c.861+1G>C	rs1412575396	0.00001
GRCh37/hg19 16q24.3(chr16:89611055-89617017)x0
NM_003119.2:c.183+1_1449+1del
NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)	rs368373840
NM_003119.4(SPG7):c.1038_1039insT (p.Leu347fs)
NM_003119.4(SPG7):c.1044_1045insA (p.Gly349fs)
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)	rs199789849
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)	rs775364547
NM_003119.4(SPG7):c.1053del (p.Gly352fs)	rs760818649
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	rs760818649
NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala)	rs2152403446
NM_003119.4(SPG7):c.1075dup (p.Ala359fs)
NM_003119.4(SPG7):c.1098_1125del (p.Val368fs)	rs2152403474
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)	rs2058358241
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)	rs745444834
NM_003119.4(SPG7):c.1310T>C (p.Leu437Pro)
NM_003119.4(SPG7):c.1324+2T>G	rs1597635592
NM_003119.4(SPG7):c.1417C>T (p.Arg473Trp)
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr)	rs1567926386
NM_003119.4(SPG7):c.1449+1_1779+1del
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392
NM_003119.4(SPG7):c.1450_1459del
NM_003119.4(SPG7):c.1452_1462del (p.Glu484fs)
NM_003119.4(SPG7):c.1454_1482del (p.Arg485fs)
NM_003119.4(SPG7):c.1498C>T (p.Gln500Ter)
NM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter)
NM_003119.4(SPG7):c.1671del (p.Lys559fs)
NM_003119.4(SPG7):c.1676del (p.Lys559fs)
NM_003119.4(SPG7):c.1719del (p.His574fs)
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)	rs151249432
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)	rs1329063851
NM_003119.4(SPG7):c.1756G>T (p.Glu586Ter)
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)	rs778387199
NM_003119.4(SPG7):c.1779+1G>T
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)	rs769258044
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)	rs368541637
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)	rs864622507
NM_003119.4(SPG7):c.1936+2T>A	rs1567933730
NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu)	rs776380988
NM_003119.4(SPG7):c.1997G>T (p.Gly666Val)	rs1597665080
NM_003119.4(SPG7):c.1998del (p.Met667fs)	rs2058661636
NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)	rs72547553
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)	rs121918357
NM_003119.4(SPG7):c.2089C>T (p.Gln697Ter)
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
NM_003119.4(SPG7):c.2103+2_2103+20del	rs1743896594
NM_003119.4(SPG7):c.2104-1G>C
NM_003119.4(SPG7):c.2104-2A>G	rs1567934754
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)	rs2152412388
NM_003119.4(SPG7):c.2164del (p.Leu722fs)
NM_003119.4(SPG7):c.2181+1G>T
NM_003119.4(SPG7):c.2181+2dup
NM_003119.4(SPG7):c.2181+5G>A
NM_003119.4(SPG7):c.2196del (p.Leu733fs)
NM_003119.4(SPG7):c.2215_2217delinsTAG (p.Asn739Ter)
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
NM_003119.4(SPG7):c.286+1G>T	rs1452259575
NM_003119.4(SPG7):c.292_295del (p.Thr98fs)
NM_003119.4(SPG7):c.297del (p.Tyr100fs)
NM_003119.4(SPG7):c.335_336insTA (p.Glu112fs)
NM_003119.4(SPG7):c.376+2T>A
NM_003119.4(SPG7):c.412_443del (p.Tyr138fs)
NM_003119.4(SPG7):c.535G>T (p.Glu179Ter)
NM_003119.4(SPG7):c.654del (p.Asn218fs)
NM_003119.4(SPG7):c.694del (p.Glu232fs)
NM_003119.4(SPG7):c.784del (p.Ala262fs)
NM_003119.4(SPG7):c.851T>C (p.Phe284Ser)
NM_003119.4(SPG7):c.851del (p.Phe284fs)
NM_003119.4(SPG7):c.932T>A (p.Val311Glu)	rs1060503429
NM_003119.4(SPG7):c.932_934del (p.Val311del)
NM_003119.4(SPG7):c.958G>T (p.Glu320Ter)
NM_003119.4(SPG7):c.971T>C (p.Phe324Ser)	rs2152402791
NM_003119.4(SPG7):c.976_987+3del	rs878854606
NM_003119.4(SPG7):c.987+2T>C
NM_003119.4(SPG7):c.988-42_1046del

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