"Daryl Scott Lab, Baylor College of Medicine"[submitter] AND "LRP2"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332098	NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)	LRP2 (R3636W)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1684281	NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu)	LRP2 (P3077L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1597370	NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile)	LRP2 (V1896I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 722618	NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser)	LRP2 (N1797S)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 987893	NM_004525.3(LRP2):c.3667+1G>A	LRP2	Single nucleotide variant (splice donor variant)	Donnai-Barrow syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1684280	NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala)	LRP2 (V1203A)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 893619	NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val)	LRP2 (I1122V)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity

ClinVar