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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219218	NM_004423.4(DVL3):c.1585del (p.Ala529fs)	DVL3 (A529fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 488049	NM_004423.4(DVL3):c.1617del (p.Gln539fs)	DVL3 (Q539fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 981469	NM_004423.4(DVL3):c.1715-2del	DVL3	Deletion (splice acceptor variant)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 219219	NM_004423.4(DVL3):c.1715-2A>G	DVL3	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 219220	NM_004423.4(DVL3):c.1715-1G>A	DVL3	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Robinow syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 219221	NM_004423.4(DVL3):c.1716del (p.Ser573fs)	DVL3 (S573fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic
Select item 817264	NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs)	DVL3 (D584fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 219222	NM_004423.4(DVL3):c.1749del (p.Ser583fs)	DVL3 (S583fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 1	GPathogenic

ClinVar