"3billion"[submitter] AND "PMM2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 530390	NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	PMM2 (V60L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 7723	NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	PMM2 (P113L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2137777	NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)	PMM2 (T118S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 21143	NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	PMM2 (E139K)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2 (R141H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type I +4 more	GPathogenic/Likely pathogenic
Select item 7709	NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	PMM2 (R162W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551026	NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)	PMM2 (P184T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1333359	NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)	PMM2 (Y191*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 225443	NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)	PMM2 (R194*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 371325	NM_000303.3(PMM2):c.639+1G>A	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 7707	NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	PMM2 (N216I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 7716	NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	PMM2 (T237R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +3 more	GPathogenic/Likely pathogenic
Select item 1333592	NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)	PMM2 (R238P)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic