C1857277[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684512	NM_004525.3(LRP2):c.11114G>T (p.Cys3705Phe)	LRP2 (C3705F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684511	NM_004525.3(LRP2):c.5657A>G (p.Tyr1886Cys)	LRP2 (Y1886C)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	Gnot provided
Select item 684510	NM_004525.3(LRP2):c.2540G>A (p.Arg847His)	LRP2 (R847H)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GUncertain significance

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