"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7711	NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	PMM2 (F119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1804910	NM_000303.3(PMM2):c.360T>G (p.Ile120Met)	PMM2 (I120M)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 265255	NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	PMM2 (R123Q)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2 (R141H)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +4 more	GPathogenic/Likely pathogenic
Select item 1422606	NM_000303.3(PMM2):c.458T>G (p.Ile153Arg)	PMM2 (I153R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 188763	NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	PMM2 (F157S)	Single nucleotide variant (missense variant)	not provided +2 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 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