"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 129976	NM_000303.3(PMM2):c.324G>A (p.Ala108=)	PMM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 265255	NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	PMM2 (R123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2 (R141H)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 92802	NM_000303.3(PMM2):c.447+19T>C	PMM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 92803	NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)	PMM2 (E197A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 289152	NM_000303.3(PMM2):c.657G>C (p.Glu219Asp)	PMM2 (E219D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 7719	NM_000303.3(PMM2):c.691G>A (p.Val231Met)	PMM2 (V231M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic