"Illumina Laboratory Services, Illumina"[submitter] AND "IKBKG"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368103	NM_001360016.2(G6PD):c.120+7A>C	G6PD, IKBKG	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 914797	NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr)	G6PD, IKBKG (D60Y +1 more)	Single nucleotide variant (missense variant +1 more)	G6PD deficiency	GUncertain significance
Select item 914798	NM_001042351.3(G6PD):c.-9+14C>G	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	G6PD deficiency	GUncertain significance
Select item 914799	NM_001042351.3(G6PD):c.-23G>A	G6PD, IKBKG +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	G6PD deficiency	GUncertain significance
Select item 368104	NM_001042351.2(G6PD):c.-111A>G	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GBenign/Likely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic

ClinVar