List of variants reported as uncertain significance for central nervous system malformation by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)	rs371086728	0.00056
NM_004958.4(MTOR):c.3452A>G (p.Tyr1151Cys)	rs151082401	0.00013
NM_014008.5(CCDC22):c.1388C>G (p.Ala463Gly)	rs782691732	0.00005
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)	rs770896540	0.00004
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)	rs561018129	0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)	rs765944337	0.00003
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)	rs773881370	0.00001
NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys)	rs1048970120	0.00001
NM_006218.4(PIK3CA):c.1059+12T>A	rs200627037	0.00001
NM_018082.6(POLR3B):c.665G>A (p.Arg222Gln)	rs2036738887	0.00001
NM_153240.5(NPHP3):c.1275+3A>T	rs370712498	0.00001
NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)	rs1556019449
NM_004958.4(MTOR):c.3109C>G (p.Leu1037Val)	rs1646462806
NM_004958.4(MTOR):c.5171T>G (p.Met1724Arg)	rs1005738588
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del)	rs1641966003
NM_005027.4(PIK3R2):c.1694C>A (p.Pro565Gln)	rs1131691683
NM_005027.4(PIK3R2):c.1809-3_1809-2insCCCCCCG	rs2043834247
NM_005027.4(PIK3R2):c.64_88dup (p.Val30fs)	rs2043673731
NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly)	rs1735397735
NM_007327.4(GRIN1):c.1198-19G>C	rs757759855
NM_014233.4(UBTF):c.2213A>G (p.Asp738Gly)	rs2056307553
NM_018027.5(FRMD4A):c.2837C>T (p.Ser946Leu)	rs983630296
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln)	rs1466311097
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)	rs2033943524

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