"GLDC-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367171	NM_000170.3(GLDC):c.2988G>C (p.Gln996His)	GLDC (Q996H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 462882	NM_000170.3(GLDC):c.2955G>A (p.Thr985=)	GLDC	Single nucleotide variant (synonymous variant)	GLDC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 367177	NM_000170.3(GLDC):c.2683A>G (p.Met895Val)	GLDC (M895V)	Single nucleotide variant (missense variant)	GLDC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1099655	NM_000170.3(GLDC):c.2673C>T (p.His891=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +1 more	GLikely benign
Select item 914570	NM_000170.3(GLDC):c.2570-10T>C	GLDC	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 56076	NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)	GLDC (W805*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia +2 more	GPathogenic
Select item 56073	NM_000170.3(GLDC):c.2316-1G>A	GLDC	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia +2 more	GPathogenic
Select item 2630498	NM_000170.3(GLDC):c.2192T>G (p.Met731Arg)	GLDC (M731R)	Single nucleotide variant (missense variant)	GLDC-related disorder	GUncertain significance
Select item 702772	NM_000170.3(GLDC):c.2097C>T (p.Tyr699=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +1 more	GLikely benign
Select item 913713	NM_000170.3(GLDC):c.2028C>T (p.Ile676=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 1077565	NM_000170.3(GLDC):c.1917G>A (p.Gly639=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +1 more	GLikely benign
Select item 1122039	NM_000170.3(GLDC):c.1908A>G (p.Lys636=)	GLDC	Single nucleotide variant (synonymous variant)	GLDC-related disorder +1 more	GLikely benign
Select item 715103	NM_000170.3(GLDC):c.1893C>T (p.Ala631=)	GLDC	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 462859	NM_000170.3(GLDC):c.1752T>C (p.Pro584=)	GLDC	Single nucleotide variant (synonymous variant)	GLDC-related disorder +2 more	GLikely benign
Select item 462857	NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)	GLDC (K540Q)	Single nucleotide variant (missense variant)	GLDC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 11985	NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	GLDC (R515S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 56043	NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	GLDC (R461Q)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 2637300	NM_000170.3(GLDC):c.1261+5G>C	GLDC	Single nucleotide variant (intron variant)	GLDC-related disorder	GUncertain significance
Select item 1493767	NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe)	GLDC (S401F)	Single nucleotide variant (missense variant)	GLDC-related disorder +2 more	GUncertain significance
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 56037	NM_000170.3(GLDC):c.1054del (p.Thr352fs)	GLDC (T352fs)	Deletion (frameshift variant)	Non-ketotic hyperglycinemia +2 more	GPathogenic/Likely pathogenic
Select item 3030107	NM_000170.3(GLDC):c.1035T>A (p.Pro345=)	GLDC	Single nucleotide variant (synonymous variant)	GLDC-related disorder	GLikely benign
Select item 462895	NM_000170.3(GLDC):c.936C>T (p.Ile312=)	GLDC	Single nucleotide variant (synonymous variant)	GLDC-related disorder +2 more	GBenign
Select item 769324	NM_000170.3(GLDC):c.861+10C>T	GLDC	Single nucleotide variant (intron variant)	GLDC-related disorder +1 more	GBenign/Likely benign
Select item 367200	NM_000170.3(GLDC):c.671G>A (p.Arg224His)	GLDC (R224H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 367201	NM_000170.3(GLDC):c.666T>C (p.Asp222=)	GLDC	Single nucleotide variant (synonymous variant)	GLDC-related disorder +3 more	GBenign
Select item 702890	NM_000170.3(GLDC):c.489A>G (p.Pro163=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia +1 more	GLikely benign
Select item 56098	NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)	GLDC (Y161C)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +2 more	GPathogenic/Likely pathogenic
Select item 462866	NM_000170.3(GLDC):c.222C>T (p.Asp74=)	GLDC	Single nucleotide variant (synonymous variant)	GLDC-related disorder +2 more	GBenign/Likely benign
Select item 462861	NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)	GLDC (A64S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1008546	NM_000170.3(GLDC):c.163C>G (p.Arg55Gly)	GLDC (R55G)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +2 more	GUncertain significance
Select item 367207	NM_000170.3(GLDC):c.63C>A (p.Arg21=)	GLDC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 462885	NM_000170.3(GLDC):c.40C>A (p.Arg14Ser)	GLDC (R14S)	Single nucleotide variant (missense variant)	GLDC-related disorder +2 more	GLikely benign
Select item 553731	NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)	GLDC (W8*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic

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Items: 34