"OMIM"[submitter] AND "PMM2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7720	NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	PMM2 (C9Y)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 7721	NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)	PMM2 (L32R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 7725	NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	PMM2 (V44A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 7710	NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)	PMM2 (D65Y)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 7727	NM_000303.3(PMM2):c.256-1G>C	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 30225	NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)	PMM2 (Y106F)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	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 7713	NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)	PMM2 (G117R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 7711	NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	PMM2 (F119L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 7708	NM_000303.3(PMM2):c.385G>A (p.Val129Met)	PMM2 (V129M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 7718	NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)	PMM2 (I132T)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
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 7712	NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)	PMM2 (D188G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550704	NM_000303.3(PMM2):c.640-15479C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	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 7714	NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)	PMM2 (D223E)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 7722	NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)	PMM2 (T226S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 7719	NM_000303.3(PMM2):c.691G>A (p.Val231Met)	PMM2 (V231M)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic
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 7717	NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	PMM2 (C241S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic
Select item 7726	NC_000016.10:g.8852245_8823657delinsAluYb8	PMM2	Deletion	PMM2-congenital disorder of glycosylation	GPathogenic

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Items: 22