C0796012[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1265	NM_194318.4(B3GLCT):c.347+5G>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GPathogenic
Select item 1264	NM_194318.4(B3GLCT):c.660+1G>A	B3GLCT	Single nucleotide variant (splice donor variant)	Peters plus syndrome +1 more	GPathogenic
Select item 21865	NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter)	B3GLCT (Y366*)	Single nucleotide variant (nonsense)	Peters plus syndrome	Gnot provided

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