ClinVar Miner

List of variants reported as uncertain significance for Spastic paraplegia, autosomal dominant

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Total variants: 51
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HGVS dbSNP
NM_001127713.1(ATL1):c.969G>C (p.Arg323=) rs753145983
NM_001142275.1(NIPA1):c.-48+390G>A rs886051009
NM_001371279.1(REEP1):c.*1020_*1021CA[2] rs886056408
NM_001371279.1(REEP1):c.*1992del rs886056404
NM_001371279.1(REEP1):c.*2014_*2016del rs886056403
NM_001371279.1(REEP1):c.*2015_*2016del rs1553455537
NM_001371279.1(REEP1):c.*2016_*2017insA rs886056400
NM_001371279.1(REEP1):c.*2016del rs886056401
NM_001371279.1(REEP1):c.*2022del rs886056399
NM_001371279.1(REEP1):c.*2050_*2051insT rs886056398
NM_001371279.1(REEP1):c.*389_*390CA[1] rs886056409
NM_002156.5(HSPD1):c.*18dup rs777031722
NM_004733.4(SLC33A1):c.*1200T>C rs886058102
NM_004733.4(SLC33A1):c.*1230A>G rs886058101
NM_004733.4(SLC33A1):c.*149C>T rs886058107
NM_004733.4(SLC33A1):c.*1529C>T rs886058100
NM_004733.4(SLC33A1):c.*509G>T rs886058106
NM_004733.4(SLC33A1):c.*582_*583del rs762573505
NM_004733.4(SLC33A1):c.*595A>C rs886058105
NM_004733.4(SLC33A1):c.*746T>G rs774751936
NM_004733.4(SLC33A1):c.*755C>T rs189496085
NM_004733.4(SLC33A1):c.*869G>A rs886058104
NM_004733.4(SLC33A1):c.*893del rs886058103
NM_004733.4(SLC33A1):c.-27C>T rs777838988
NM_004733.4(SLC33A1):c.-281C>T rs560777515
NM_004733.4(SLC33A1):c.1068G>A (p.Gln356=) rs886058108
NM_004733.4(SLC33A1):c.1149-4A>G rs773106675
NM_004733.4(SLC33A1):c.1267-4G>A rs779467886
NM_004733.4(SLC33A1):c.131G>T (p.Gly44Val) rs780400607
NM_004733.4(SLC33A1):c.613T>C (p.Leu205=) rs886058110
NM_004733.4(SLC33A1):c.904T>C (p.Phe302Leu) rs886058109
NM_004984.4(KIF5A):c.*422_*425GCAC[4] rs150797197
NM_004984.4(KIF5A):c.-193G>A rs886049699
NM_005619.5(RTN2):c.*217G>A rs886054502
NM_014846.4(WASHC5):c.-124-17dup rs886062656
NM_014846.4(WASHC5):c.3423+12_3423+15del rs774994568
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.*1543_*1544insT rs751815134
NM_014946.3(SPAST):c.*1544dup rs542086083
NM_014946.3(SPAST):c.*2999dup rs886055984
NM_014946.3(SPAST):c.*815_*828delinsAAC rs886055971
NM_014946.3(SPAST):c.-104_-102del rs886055960
NM_014946.3(SPAST):c.-176C>T rs886055958
NM_144599.5(NIPA1):c.*1190_*1191del rs764504513
NM_144599.5(NIPA1):c.*1845_*1846dup rs113532349
NM_144599.5(NIPA1):c.*2727dup rs746846799
NM_144599.5(NIPA1):c.*3316T>C rs527532188
NM_144599.5(NIPA1):c.*5395_*5396del rs886050987
NM_144599.5(NIPA1):c.*5474_*5477del rs747886565
NM_199436.1(SPAST):c.*372_*375TTGT[2] rs756347073
NM_199440.1(HSPD1):c.-3+253C>G rs886055390

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