List of variants reported as pathogenic for complex neurodevelopmental disorder by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)	rs2132444703
NM_001040142.2(SCN2A):c.2388+1G>A	rs1698674881
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	rs61752992
NM_001110792.2(MECP2):c.1267_1355del (p.Ser423fs)
NM_001110792.2(MECP2):c.48_55del (p.Glu18fs)	rs786205043
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)	rs61749715
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	rs1064794262
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro)	rs1856116625
NM_001326342.2(CELF2):c.1517G>A (p.Arg506His)	rs2132785456
NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter)	rs2146813259
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	rs398124204
NM_005249.5(FOXG1):c.676C>G (p.Gln226Glu)
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)	rs1407446171

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