"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284906	NM_000303.3(PMM2):c.61C>G (p.Arg21Gly)	PMM2 (R21G)	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)	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)	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)	Congenital disorder of glycosylation type I +4 more	GPathogenic
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 509672	NM_000303.3(PMM2):c.640-13C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 7716	NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	PMM2 (T237R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic