"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "GPI"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664537	NM_000175.5(GPI):c.557A>G (p.Asn186Ser)	GPI (N158S +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2585258	NM_000175.5(GPI):c.804+1_804+2del	GPI	Deletion (splice donor variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely pathogenic
Select item 1358825	NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)	GPI (A376T +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 13640	NM_000175.5(GPI):c.1040G>A (p.Arg347His)	GPI (R347H +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GPathogenic/Likely pathogenic
Select item 3235007	NM_000175.5(GPI):c.1094C>T (p.Thr365Ile)	GPI (T337I +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 1176072	NM_000175.5(GPI):c.1414C>T (p.Arg472Cys)	GPI (R444C +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GPathogenic

ClinVar