ClinVar for MedGen (Select 120618) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338912	NM_002591.4(PCK1):c.*358TG[14]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338911	NM_002591.4(PCK1):c.*358TG[15]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338910	NM_002591.4(PCK1):c.*358TG[16]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338909	NM_002591.4(PCK1):c.*358TG[19]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338908	NM_002591.4(PCK1):c.*358TG[17]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338907	NM_002591.4(PCK1):c.*358TG[24]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338906	NM_002591.4(PCK1):c.*358TG[21]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338905	NM_002591.4(PCK1):c.*358TG[20]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338904	NM_002591.4(PCK1):c.357_362del	PCK1	Deletion (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338903	NM_002591.4(PCK1):c.357_360del	PCK1	Deletion (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338902	NM_002591.4(PCK1):c.*349AT[4]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GLikely benign
Select item 338901	NM_002591.4(PCK1):c.*349AT[6]	PCK1	Microsatellite (3 prime UTR variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency	GUncertain significance
Select item 338873	NM_002591.4(PCK1):c.228G>T (p.Trp76Cys)	PCK1 (W76C)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency +1 more	GUncertain significance