"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "G6PC1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12004	NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	G6PC1 (D38V)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
Select item 890128	NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)	G6PC1 (V45I)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +2 more	GUncertain significance
Select item 11998	NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	G6PC1 (R83C)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic
Select item 11997	NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	G6PC1 (Y128fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 214458	NM_000151.4(G6PC1):c.432G>A (p.Pro144=)	G6PC1 (D119N)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 12008	NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)	G6PC1 (G188R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GPathogenic
Select item 932198	NM_000151.4(G6PC1):c.757del (p.Ile253fs)	G6PC1 (I253fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1682522	NM_000151.4(G6PC1):c.793C>G (p.Leu265Val)	G6PC1 (L265V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 11999	NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	G6PC1 (R295C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188777	NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	G6PC1 (Y323*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GPathogenic/Likely pathogenic
Select item 12000	NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)	G6PC1 (Q347*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 212778	NM_000151.4(G6PC1):c.*3G>A	G6PC1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 255350	NM_000151.4(G6PC1):c.*23T>C	G6PC1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +2 more	GBenign