List of variants reported as likely pathogenic for syndrome caused by partial chromosomal deletion by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001134673.4(NFIA):c.297dup (p.Pro100fs)	rs1553149202
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser)	rs1591833522

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