"GeneDx"[submitter] AND "GPI"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1281520	NM_000175.5(GPI):c.283-31G>A	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255472	NM_000175.5(GPI):c.489A>G (p.Gly163=)	GPI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1029693	NM_000175.5(GPI):c.640A>G (p.Thr214Ala)	GPI (T214A +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GUncertain significance
Select item 13643	NM_000175.5(GPI):c.671C>T (p.Thr224Met)	GPI (T224M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1283715	NM_000175.5(GPI):c.706-167C>T	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272763	NM_000175.5(GPI):c.750+240G>A	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439764	NM_000175.5(GPI):c.762G>A (p.Lys254=)	GPI	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GBenign
Select item 1226732	NM_000175.5(GPI):c.1062+35A>G	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282810	NM_000175.5(GPI):c.1270-245C>T	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237555	NM_000175.5(GPI):c.1398+82G>A	GPI	Single nucleotide variant (intron variant)	not provided	GBenign