"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813495	NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)	G6PC1 (W70*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 21061	NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	G6PC1 (Q242*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic