Related gene-specific medical variations for Gene (Select 2538) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243113	NC_000017.10:g.(?_41052894)_(41053143_?)del	G6PC1	Deletion	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 3067900	NM_000151.4(G6PC1):c.352G>C (p.Gly118Arg)	G6PC1 (G118R)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 3065237	NM_000151.4(G6PC1):c.575C>A (p.Ala192Glu)	G6PC1 (A192E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3065231	NM_000151.4(G6PC1):c.575C>T (p.Ala192Val)	G6PC1 (A192V +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2441598	NM_000151.4(G6PC1):c.338C>T (p.Pro113Leu)	G6PC1 (P113L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2441597	NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys)	G6PC1 (W63C)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2436309	NM_000151.4(G6PC1):c.742_745del (p.Pro248fs)	G6PC1 (P248fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 990472	NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)	G6PC1 (T123I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 973573	NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)	G6PC1	Deletion (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 973572	NC_000017.11:g.42910915_42911427del	G6PC1	Deletion	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 591627	NM_000151.4(G6PC1):c.244C>T (p.Gln82Ter)	G6PC1 (Q82*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591566	NM_000151.4(G6PC1):c.689T>C (p.Leu230Pro)	G6PC1 (L230P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 143841	NM_000151.4(G6PC1):c.665G>A (p.Gly222Glu)	G6PC1	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Gnot provided