"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255452	NM_000170.3(GLDC):c.*7G>C	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia +2 more	GBenign
Select item 367181	NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)	GLDC (V735L)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +1 more	GBenign/Likely benign
Select item 367184	NM_000170.3(GLDC):c.1927-9A>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia +1 more	GBenign/Likely benign
Select item 235431	NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)	GLDC (A569T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 367195	NM_000170.3(GLDC):c.1156-7C>G	GLDC	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 518399	NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg)	GLDC (T352R)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 56104	NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	GLDC (T269M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 367208	NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)	GLDC (G18C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1174726	NM_000170.3(GLDC):c.27del (p.Leu10fs)	GLDC (L10fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic