ClinVar for MedGen (Select 813041) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068010	NM_003399.6(XPNPEP2):c.748A>C (p.Asn250His)	XPNPEP2 (N250H)	Single nucleotide variant (missense variant)	Susceptibility to angioedema induced by ACE inhibitors	GUncertain significance
Select item 1722739	NM_001360016.2(G6PD):c.[143T>C;563C>T]	G6PD (I48T +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722698	NM_001360016.2(G6PD):c.[376A>G;563C>T]	G6PD (N126D +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722697	NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]	G6PD (V68M +5 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722696	NM_001360016.2(G6PD):c.[202G>A;563C>T]	G6PD (V68M +3 more)	Single nucleotide variant (missense variant)	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)	G6PD deficient hemolytic anemia +8 more	GPathogenic/Likely pathogenic
Select item 11567	NC_000023.11:g.129736814C>A	XPNPEP2	Single nucleotide variant	Susceptibility to angioedema induced by ACE inhibitors	Grisk factor

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