"OMIM"[submitter] AND "PGM3"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133321	NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)	DOP1A, PGM3 (D502Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome +1 more	GPathogenic
Select item 133316	NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln)	DOP1A, PGM3 (E529Q +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 133317	NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs)	PGM3 (L480fs +2 more)	Deletion (frameshift variant +2 more)	Immunodeficiency 23	GPathogenic
Select item 140735	NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg)	PGM3 (Q451R +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GPathogenic
Select item 133319	NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp)	PGM3	Deletion (inframe_indel +1 more)	Immunodeficiency 23	GPathogenic
Select item 421723	NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)	PGM3 (I350T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 133318	NM_015599.3(PGM3):c.891T>G (p.Asp297Glu)	PGM3 (D325E +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 140734	NM_015599.3(PGM3):c.737dup (p.Asn246fs)	PGM3 (N165fs +2 more)	Duplication (frameshift variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 140732	NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)	PGM3 (N246S +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23 +1 more	GPathogenic/Likely pathogenic
Select item 224830	NM_015599.3(PGM3):c.715G>C (p.Asp239His)	PGM3 (D239H +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 133320	NM_015599.3(PGM3):c.248T>C (p.Leu83Ser)	PGM3 (L83S +2 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome +1 more	GPathogenic