"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691854	NM_000533.5(PLP1):c.5-3598del	PLP1, RAB9B	Deletion (intron variant)	not specified	GBenign
Select item 691855	NM_000533.5(PLP1):c.5-1636_5-1619dup	PLP1, RAB9B	Duplication (intron variant)	not specified	GBenign
Select item 691853	GRCh37/hg19 Xq22.1-22.2(chrX:102543473-103398234)x0	BEX2, BEX3 +15 more	Copy number loss	not provided	GUncertain significance
Select item 691849	GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1	FAM199X, GPRASP1 +51 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 691848	GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1	BEX1, BEX2 +27 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 691847	GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1	BEX2, BEX3 +25 more	Copy number loss	Early Onset Neurological Disease Trait	GUncertain significance
Select item 691846	GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1	ARMCX2, ARMCX3 +40 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 691845	GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1	H2BW2, MORF4L2 +10 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic

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