List of variants reported as likely pathogenic for syndrome caused by partial chromosomal deletion by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1
GRCh37/hg19 17q12(chr17:34807069-36284994)x1
NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter)	rs2100414085
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs)	rs2100520890
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)	rs1223371144
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
NM_001386298.1(CIC):c.5903-1G>A
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)	rs1554139743
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys)	rs1942462618
NM_006940.6(SOX5):c.1789A>G (p.Met597Val)	rs1940534444
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs)	rs2132826154
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter)	rs2032121558
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)	rs1816336903
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)	rs1816565452
NM_078480.3(PUF60):c.619_637del (p.Asn207fs)	rs1554643142
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser)	rs1816558436

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