"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930935	NM_003011.4(SET):c.73_73+1insAAAAAGAACAGCAAGAAGCGATTGAACACATTGAT	SET	Insertion (intron variant +1 more)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic