"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098494	NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)	G6PD (P481A +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GConflicting classifications of pathogenicity
Select item 1722608	NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)	G6PD (I355V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
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 445710	NM_001360016.2(G6PD):c.848A>T (p.Asp283Val)	G6PD (D283V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1098495	NC_000023.11:g.154534338dup	G6PD	Duplication	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
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 1098496	NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser)	G6PD (Y118S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1098497	NM_001360016.2(G6PD):c.235G>C (p.Asp79His)	G6PD (D109H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 37123	NM_000402.4(G6PD):c.292G>A (p.Val98Met)	G6PD (V68M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1098498	NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)	G6PD (T51I +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GConflicting classifications of pathogenicity
Select item 10402	NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	G6PD (I48T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic