List of variants reported as uncertain significance for Lafora disease by Invitae

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Total variants: 26

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HGVS	dbSNP
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile)	rs1388505858
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp)	rs752045674
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp)	rs377395116
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr)	rs370044232
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)	rs200201752
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys)	rs761458140
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser)	rs568131096
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His)	rs750465793
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser)	rs1561882043
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys)	rs148035405
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)	rs200595273
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu)	rs1554136449
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser)	rs138667242
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)	rs140850172
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile)	rs1060503098
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln)
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)

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