C2750787[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687381	NM_139057.4(ADAMTS17):c.2796+5G>A	ADAMTS17	Single nucleotide variant (intron variant)	Weill-Marchesani 4 syndrome, recessive	GUncertain significance
Select item 1687423	NM_139057.4(ADAMTS17):c.1996T>G (p.Cys666Gly)	ADAMTS17 (C666G)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive	GUncertain significance
Select item 1442566	NM_139057.4(ADAMTS17):c.1873G>T (p.Ala625Ser)	ADAMTS17 (A625S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1687282	NM_139057.4(ADAMTS17):c.662_665del (p.Glu221fs)	ADAMTS17 (E221fs)	Deletion (frameshift variant)	Weill-Marchesani 4 syndrome, recessive	GPathogenic
Select item 315320	NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly)	ADAMTS17 (E78G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884802	NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)	ADAMTS17 (P8S)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive +2 more	GConflicting classifications of pathogenicity

ClinVar