C0349653[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	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)	not provided +2 more	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 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

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