List of variants reported as uncertain significance for Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes by ClinGen Brain Malformations Variant Curation Expert Panel

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004958.4(MTOR):c.5978A>G (p.Lys1993Arg)	rs373390383	0.00002
NM_004958.4(MTOR):c.4382T>C (p.Val1461Ala)	rs761536364	0.00001
NM_004958.4(MTOR):c.6752G>A (p.Arg2251Gln)	rs1642555959	0.00001
NM_004958.4(MTOR):c.1249A>G (p.Met417Val)	rs778680709
NM_004958.4(MTOR):c.3004C>T (p.Arg1002Ter)	rs770601118
NM_004958.4(MTOR):c.4375G>T (p.Ala1459Ser)	rs1644347846
NM_004958.4(MTOR):c.5432G>T (p.Arg1811Leu)	rs751393552
NM_004958.4(MTOR):c.997C>T (p.Leu333=)	rs1288590431
NM_006218.4(PIK3CA):c.1631C>A (p.Thr544Asn)	rs2108408335
NM_006218.4(PIK3CA):c.93A>G (p.Ile31Met)	rs2108385317

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