List of variants reported as uncertain significance for central nervous system malformation by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)	rs149240122	0.00111
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)	rs150195368	0.00050
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)	rs374431961	0.00011
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)	rs371675497	0.00010
NM_004958.4(MTOR):c.743C>T (p.Thr248Ile)	rs377679898	0.00005
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys)	rs751808973	0.00003
NM_005559.4(LAMA1):c.3052C>G (p.Pro1018Ala)	rs750460729	0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)	rs767150990	0.00002
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr)	rs763066236	0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His)	rs758978677	0.00001
NM_014008.5(CCDC22):c.197G>A (p.Arg66His)	rs199545573	0.00001
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg)	rs1577598082	0.00001
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr)	rs1555439825
NM_001368809.2(AMPD2):c.806T>C (p.Leu269Pro)	rs1570587910
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu)	rs1560192615
NM_005559.4(LAMA1):c.2216G>A (p.Cys739Tyr)	rs1555656402
NM_005559.4(LAMA1):c.2663G>T (p.Gly888Val)	rs1555654766
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)	rs569673313
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln)	rs936843937
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)	rs1221939030

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