"GeneDx"[submitter] AND "LOC130004591"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620191	NM_005029.4(PITX3):c.762C>A (p.Tyr254Ter)	GBF1, LOC130004591 +1 more (Y254*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2412872	NM_005029.4(PITX3):c.682G>A (p.Ala228Thr)	GBF1, LOC130004591 +1 more (A228T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance