"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 377247	NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg)	EVI2A, LOC130060655 +1 more (Q176R +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GBenign/Likely benign
Select item 523264	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	ADAP2, ATAD5 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523263	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	ADAP2, ATAD5 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic

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