ClinVar for PubMed (Select 9674740) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1722676	NM_001360016.2(G6PD):c.1215G>A (p.Met405Ile)	G6PD (M405I +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 1722617	NM_001360016.2(G6PD):c.[1159C>T;376A>G]	G6PD (R387C +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1066811	NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys)	G6PD (R393C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 37203	NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	G6PD (D181V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 10411	G6PD NARA	G6PD	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10410	NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)	G6PD (A361V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10398	NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)	G6PD (G410D +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
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 10382	NM_001042351.1(G6PD):c.[376A>G;542A>T]	G6PD (D181V +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10377	NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)	G6PD (C385R +1 more)	Single nucleotide variant (missense variant)	G6PD TOMAH +1 more	GPathogenic
Select item 10376	NM_000402.4(G6PD):c.1250G>A (p.Arg417His)	G6PD (R387H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic
Select item 10375	NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)	G6PD (K386E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10370	NM_000402.4(G6PD):c.1268G>A (p.Arg423His)	G6PD (R393H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic