C2720289[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10396	NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)	G6PD (R387C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 10363	NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	G6PD (A335T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 10401	NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	G6PD (E317K +1 more)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 2 +4 more	GPathogenic/Likely pathogenic
Select item 10391	NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	G6PD (R198C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic
Select item 100057	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD (S188F +1 more)	Single nucleotide variant (missense variant)	Decreased glucose-6-phosphate dehydrogenase level in blood +8 more	GPathogenic/Likely pathogenic
Select item 10406	NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	G6PD (A44G +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +3 more	GPathogenic

ClinVar