List of variants reported as pathogenic for syndrome caused by partial chromosomal deletion by MGZ Medical Genetics Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)
NM_006940.6(SOX5):c.1136del (p.Ser379fs)
NM_022455.5(NSD1):c.4365del (p.Asp1456fs)
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)	rs587784173
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)	rs587784200
NM_030665.4(RAI1):c.1785dup (p.Arg596fs)

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