C2750079[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687611	NM_012338.4(TSPAN12):c.612+1G>T	TSPAN12	Single nucleotide variant (splice donor variant)	Exudative vitreoretinopathy 5	GLikely pathogenic
Select item 1687193	NM_012338.4(TSPAN12):c.476G>T (p.Cys159Phe)	TSPAN12 (C159F)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 1687582	NM_012338.4(TSPAN12):c.345T>G (p.Tyr115Ter)	TSPAN12 (Y115*)	Single nucleotide variant (nonsense)	Exudative vitreoretinopathy 5	GPathogenic
Select item 1705603	NM_012338.4(TSPAN12):c.313T>C (p.Cys105Arg)	TSPAN12 (C105R)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 1705323	NM_012338.4(TSPAN12):c.283T>C (p.Trp95Arg)	TSPAN12 (W95R)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 1705439	NM_012338.4(TSPAN12):c.277C>T (p.Leu93Phe)	TSPAN12 (L93F)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 1705403	NM_012338.4(TSPAN12):c.32G>A (p.Arg11His)	TSPAN12 (R11H)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 5	GUncertain significance

ClinVar