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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981470	NM_001466.4(FZD2):c.367_388dup (p.Phe130fs)	FZD2 (F130fs)	Duplication (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 488051	NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)	FZD2 (W377*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488061	NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)	FZD2 (G434S)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488052	NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val)	FZD2 (G434V)	Indel (missense variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488050	NM_001466.4(FZD2):c.1301G>T (p.Gly434Val)	FZD2 (G434V)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 617609	NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)	FZD2 (W548*)	Single nucleotide variant	not provided +2 more	GPathogenic

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