"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GLDC"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554247	NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	GLDC (S951Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 56087	NM_000170.3(GLDC):c.2838+5G>A	GLDC	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 558570	NM_000170.3(GLDC):c.2838+2T>C	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 639955	NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	GLDC (V905G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280015	NM_000170.3(GLDC):c.2665+1G>C	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 367180	NM_000170.3(GLDC):c.2518A>G (p.Met840Val)	GLDC (M840V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 963265	NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)	GLDC (A833V)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 557789	NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)	GLDC (Q828fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454491	NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)	GLDC (Q828*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 255455	NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)	GLDC (A794T)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +2 more	GBenign/Likely benign
Select item 1508937	NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln)	GLDC (R790Q)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 255454	NM_000170.3(GLDC):c.2316-6dup	GLDC	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 557785	NM_000170.3(GLDC):c.2315+2T>A	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 445395	NM_000170.3(GLDC):c.2203-19G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia +1 more	GBenign/Likely benign
Select item 367183	NM_000170.3(GLDC):c.2147T>A (p.Leu716His)	GLDC (L716H)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 1063838	NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu)	GLDC (D671E)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 56050	NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)	GLDC (R596*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 11985	NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	GLDC (R515S)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +5 more	GPathogenic
Select item 462855	NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)	GLDC (P509A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 550535	NM_000170.3(GLDC):c.1484_1489del	GLDC	Deletion (splice acceptor variant)	Non-ketotic hyperglycinemia +2 more	GConflicting classifications of pathogenicity
Select item 558458	NM_000170.3(GLDC):c.1401+1G>A	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 968550	NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln)	GLDC (E448Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 966949	NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys)	GLDC (R374K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 554515	NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)	GLDC (Q370*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 367196	NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)	GLDC (F334L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 367197	NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)	GLDC (C291G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 994886	NM_000170.3(GLDC):c.869C>T (p.Ala290Val)	GLDC (A290V)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 462893	NM_000170.3(GLDC):c.861+5G>C	GLDC	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 255459	NM_000170.3(GLDC):c.501G>A (p.Glu167=)	GLDC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 840135	NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)	GLDC (Y164*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic
Select item 557987	NM_000170.3(GLDC):c.334+1G>T	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 1100066	NM_000170.3(GLDC):c.210T>C (p.Pro70=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 976617	NM_000170.3(GLDC):c.-31C>A	GLDC	Single nucleotide variant (5 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34