File Name	Known Variants	Disorders
F133793	NSD1 p.(Cys1745Phe)	Sotos syndrome
F133801	SUZ12 p.(Pro2526Ser)	Sotos Syndrome
F133794	SUZ12 p.(Thr160Serfs*30)	SUZ12 Overgrowth
F133795	ASH1L	ASH1L p.(Arg1254His) Inherited VoUS; de novo MORC2 p.(Arg132Cys)
F133796	15q11.2 Microduplication syndrome	15q11.2 Microduplication syndrome
F133797	Repeat Expansion Positive	Fragile X
F133798	NF1-SUZ12 Microdeletion syndrome	NF1-SUZ12 Microdeletion syndrome
F133799	SUZ12 VoUS p.(Arg682Cys)	SUZ12 VoUS SNP
F133800	SUZ12 VoUS p.(Arg682Cys)	SUZ12 VoUS SNP
F134255	SUZ12	Syndromic Intellectual Disability
F134262	SETD1B p.(Glu131_Glu133del)	SETD1B
F133815	SETD1B-Related Neurodevelopmental Disorder	SETD1B-Related Neurodevelopmental Disorder
F127624	Kleefstra Syndrome	Kleefstra Syndrome
F129911	Weaver syndrome	Weaver syndrome
F135814	Prader-Willi Syndrome	Prader-Willi Syndrome
F135815	Prader-Willi Syndrome	Prader-Willi Syndrome
F135816	Prader-Willi Syndrome	Prader-Willi Syndrome
F135817	Prader-Willi Syndrome	Prader-Willi Syndrome
F135818	Prader-Willi Syndrome	Prader-Willi Syndrome
F136033	Prader-Willi Syndrome	Prader-Willi Syndrome (Subtype unknown)
F136106	TRRAP c.[4405C>T]; p.(Gln1469*) and SETD2 c.[3331C>T]; p.(His1111Tyr)	Syndromic Intellectual Disability
F139663	SETD1B c.5375 G>T; p.(Arg1792Leu)	Syndromic Intellectual Disability
F137120	Temple Syndrome (Uniparental Disomy Chr14)	Temple Syndrome
F137121	Silver-Russell Syndrome	Silver-Russell Syndrome
F137023	Prader-Willi Syndrome	Prader-Willi Syndrome
F137024	SETD1B Likely Pathogenic c.2078del, p.(Pro693Hisfs*31)	Epilepsy
F139364	NSD1 p.(Leu1573Ilefs*3) Likely Pathogenic	not sorted
F141799	SETD1B c.2761dup, p.(R921Kfs*69) de novo	not sorted
F142957 	Prader-Willi Syndrome	Prader-Willi Syndrome
F143305	SRRM2 c.63_69Del p.(Asn22Profs*27) and ZMYM2 c.2528_2529del p.(Lys843Argfs*21)	Syndromic Intellectual Disability
F143306	angelman	Syndromic Intellectual Disability
F143575	angelman- maternal deletion	Syndromic Intellectual Disability
F143580	angelman- maternal deletion	Syndromic Intellectual Disability
F143680 	angelman	Syndromic Intellectual Disability
F143681	PWS	Syndromic Intellectual Disability
F143682	PWS	Syndromic Intellectual Disability
F143683	PWS	Syndromic Intellectual Disability
F143684	PWS	Syndromic Intellectual Disability
F143685	PWS	Syndromic Intellectual Disability
F143686	PWS	Syndromic Intellectual Disability
F143687	PWS	Syndromic Intellectual Disability
F143688	PWS	Syndromic Intellectual Disability
F143689	PWS	Syndromic Intellectual Disability
F143794	PWS	Isolated Growth Hormone Deficiency
F143795	PWS	Isolated Growth Hormone Deficiency
F143796 	12q24.31 deletion which includes both SETD1B and KDM2B	12q24.31 deletion which includes both SETD1B and KDM2B
F143797	12q24.31 deletion which includes both SETD1B and KDM2B ( 1.99Mb: 121,931,210 ~123,930,209)	12q24.31 deletion which includes both SETD1B and KDM2B ( 1.99Mb: 121,931,210 ~123,930,209)
F143798	SETD1B, NM_001353345.2:c.3964C>T, Chr12(GRCh38):g.121822543C>T, p.(Gln1322*)	SETD1B, NM_001353345.2:c.3964C>T, Chr12(GRCh38):g.121822543C>T, p.(Gln1322*)
F144343	PWS	Syndromic Intellectual Disability
F144447	angelman- maternal deletion	Syndromic Intellectual Disability
F144448	angelman	Syndromic Intellectual Disability
F144809	EZH2 p.Pro132Ser	Syndromic Intellectual Disability
F144810 	EZH2 p.Tyr133Cys	Syndromic Intellectual Disability
F144811	EZH2 p.Glu745Lys	Syndromic Intellectual Disability
F145512	DNMT3A c.1711G>C ( NM_022552.4), p.(Ala571Pro) (NP_072046.2)	Tatton-Brown-Rahman Syndrome Proband