"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518333	NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)	LRP2 (R4127H)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 129497	NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly)	LRP2 (V3999G)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 713565	NM_004525.3(LRP2):c.2933C>T (p.Thr978Met)	LRP2 (T978M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 332192	NM_004525.3(LRP2):c.2079C>T (p.Phe693=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 332202	NM_004525.3(LRP2):c.428-9_428-8del	LRP2	Deletion (intron variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 714472	NM_004525.3(LRP2):c.391A>G (p.Arg131Gly)	LRP2 (R131G)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign

ClinVar