C0751748[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 462897	NM_000481.4(AMT):c.1082C>T (p.Ala361Val)	AMT (A361V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 809487	NM_000481.4(AMT):c.987del (p.Met330fs)	AMT (M286fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56241	NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)	AMT (A272fs +2 more)	Indel (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 11979	NM_000481.4(AMT):c.959G>A (p.Arg320His)	AMT (R320H +2 more)	Single nucleotide variant (missense variant +1 more)	Glycine encephalopathy 2 +2 more	GPathogenic
Select item 1493781	NM_000481.4(AMT):c.890G>A (p.Arg297Gln)	AMT (R297Q +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1285076	NM_000481.4(AMT):c.889C>T (p.Arg297Ter)	AMT (R241* +2 more)	Single nucleotide variant (nonsense +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 656955	NM_000481.4(AMT):c.886C>T (p.Arg296Cys)	AMT (R296C +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 346031	NM_000481.4(AMT):c.825T>A (p.Asn275Lys)	AMT (N275K +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 552860	NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	AMT (R222C +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 531771	NM_000481.4(AMT):c.635T>C (p.Val212Ala)	AMT (V212A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 56232	NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	AMT	Deletion (inframe_deletion +2 more)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
Select item 531768	NM_000481.4(AMT):c.436G>A (p.Ala146Thr)	AMT (A146T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 965320	NM_000481.4(AMT):c.283G>A (p.Val95Met)	AMT (V95M +1 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 1465602	NM_000481.4(AMT):c.218G>A (p.Arg73His)	AMT (R73H)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 899722	NM_000481.4(AMT):c.194A>G (p.His65Arg)	AMT (H65R)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1404115	NM_000481.4(AMT):c.29G>A (p.Arg10His)	AMT, NICN1 (R10H)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
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)	Non-ketotic hyperglycinemia	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)	Non-ketotic hyperglycinemia +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)	not specified +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 specified +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)	not provided +1 more	GBenign/Likely benign
Select item 367183	NM_000170.3(GLDC):c.2147T>A (p.Leu716His)	GLDC (L716H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	GLDC-related condition +5 more	GPathogenic
Select item 462855	NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)	GLDC (P509A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 550535	NM_000170.3(GLDC):c.1484_1489del	GLDC	Deletion (splice acceptor variant)	not provided +2 more	GUncertain significance
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)	Non-ketotic hyperglycinemia +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)	not provided +5 more	GUncertain significance
Select item 367197	NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)	GLDC (C291G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 994886	NM_000170.3(GLDC):c.869C>T (p.Ala290Val)	GLDC (A290V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 462893	NM_000170.3(GLDC):c.861+5G>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia +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 specified +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
Select item 1367392	NM_004483.5(GCSH):c.364G>A (p.Glu122Lys)	GCSH (E122K)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 462904	NM_004483.5(GCSH):c.292+9T>G	GCSH	Single nucleotide variant (intron variant)	GCSH-related condition +1 more	GBenign/Likely benign
Select item 462908	NM_004483.5(GCSH):c.53C>T (p.Ala18Val)	GCSH, LOC130059495 (A18V)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity

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Items: 53