"Genome-Nilou Lab"[submitter] AND "PMM2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180926	NM_000303.3(PMM2):c.66+209C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign
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 92802	NM_000303.3(PMM2):c.447+19T>C	PMM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184627	NM_000303.3(PMM2):c.639+62C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign
Select item 321228	NM_000303.3(PMM2):c.*96G>C	PMM2	Single nucleotide variant (3 prime UTR variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign
Select item 321229	NM_000303.3(PMM2):c.*136A>C	PMM2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321231	NM_000303.3(PMM2):c.*175G>A	PMM2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

ClinVar