ClinVar for MedGen (Select 1726802) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1032948	NM_032322.4(RNF135):c.575C>T (p.Thr192Ile)	RNF135 (T192I)	Single nucleotide variant (missense variant +1 more)	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GUncertain significance
Select item 666441	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	ADAP2, ATAD5 +12 more	Copy number loss	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GPathogenic

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