Total 8 pathogenic variants reported for Prader-willi syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)	SNV Germline	Chr15:23645831	Pathogenic/Likely pathogenic	Inborn genetic diseases Condition: not provided Schaaf-Yang syndrome Schaaf-Yang syndrome Prader-Willi syndrome MAGEL2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA204677	rs_797044883	11 SubmittersRCV000190699 RCV000238706 RCV000508676 RCV000762935 RCV003407693
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp)	SNV Germline	Chr15:23646784	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Prader-Willi syndrome Schaaf-Yang syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7430063	rs_541606785	4 SubmittersRCV000502840 RCV002524223 RCV002490835 RCV002524222
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)	SNV Germline	Chr15:23647358	Conflicting classifications of pathogenicity	not specified Prader-Willi syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7430116	rs_188762916	8 SubmittersRCV000501872 RCV001198742 RCV001729617 RCV002524224
NM_004667.6(HERC2):c.11701-1G>A	SNV Unknown	Chr15:28141847	Pathogenic	Prader-Willi syndrome	Criteria Provided Single Submitter		rs_1891259083	1 SubmittersRCV001198553
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)	SNV Germline	Chr15:23645752	Conflicting classifications of pathogenicity	Condition: not provided Schaaf-Yang syndrome Prader-Willi syndrome Schaaf-Yang syndrome	Criteria Provided Conflicting Classifications		rs_201935129	5 SubmittersRCV001699655 RCV002488468 RCV003227985
NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter)	SNV Germline	Chr15:23644849	Pathogenic	Prader-Willi syndrome	Criteria Provided Single Submitter		rs_2140713056	1 SubmittersRCV002250101