List of variants reported as likely pathogenic by Raymond Lab, University of Cambridge

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)	rs782635828	0.00002
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)	rs375876694	0.00002
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)	rs369691608	0.00001
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)	rs122445108
NM_000530.8(MPZ):c.486del (p.Ile162fs)	rs1571818248
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)	rs606231193
NM_001172509.2(SATB2):c.598-2A>G	rs1574554519
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly)	rs1603401125
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)	rs1060505033
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del)	rs1597665063
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)	rs1569482153
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu)	rs1570600997
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)	rs202060209

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