"Counsyl"[submitter] AND "GLDC"[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367170	NM_000170.3(GLDC):c.*5C>G	GLDC	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 557131	NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter)	GLDC (E1014*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 554525	NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)	GLDC (D995N)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 550058	NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)	GLDC (G994R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 554292	NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)	GLDC (R988Q)	Single nucleotide variant (missense variant)	Glycine encephalopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 554524	NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)	GLDC (R988W)	Single nucleotide variant (missense variant)	Glycine encephalopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 557977	NM_000170.3(GLDC):c.2948G>A (p.Trp983Ter)	GLDC (W983*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367172	NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg)	GLDC (W983R)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 56093	NM_000170.3(GLDC):c.2919+1G>A	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GPathogenic
Select item 558248	NM_000170.3(GLDC):c.2888dup (p.Tyr964fs)	GLDC (Y964fs)	Duplication (frameshift variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
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 556776	NM_000170.3(GLDC):c.2841G>A (p.Met947Ile)	GLDC (M947I)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
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 554516	NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)	GLDC (S910L)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 555743	NM_000170.3(GLDC):c.2666-1G>A	GLDC	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GLikely 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 550039	NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)	GLDC	Deletion (inframe_deletion)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 462877	NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)	GLDC (K872*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 555999	NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)	GLDC (E862K)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 557059	NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)	GLDC (G860R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 462875	NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)	GLDC (R843*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 558039	NM_000170.3(GLDC):c.2458A>G (p.Met820Val)	GLDC (M820V)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 555402	NM_000170.3(GLDC):c.2458-1G>T	GLDC	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 554438	NM_000170.3(GLDC):c.2458-2A>G	GLDC	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 554507	NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)	GLDC (K773*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
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 56072	NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)	GLDC (G771R)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 531767	NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr)	GLDC (P769T)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 554523	NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)	GLDC (G766V)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 555815	NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)	GLDC (G761R)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 554905	NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)	GLDC (D746E)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 56064	NM_000170.3(GLDC):c.2203-2A>G	GLDC	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GPathogenic
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 557710	NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys)	GLDC	Duplication (inframe_insertion)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 553839	NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs)	GLDC (A694fs)	Deletion (frameshift variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 235561	NM_000170.3(GLDC):c.2053-5C>G	GLDC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558242	NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)	GLDC (A678del)	Deletion (inframe_deletion)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 550016	NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)	GLDC (S657N)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 254211	NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)	GLDC (P647L)	Single nucleotide variant (missense variant)	Smith-Magenis Syndrome-like +4 more	GConflicting classifications of pathogenicity
Select item 554434	NM_000170.3(GLDC):c.1927-4G>A	GLDC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 462862	NM_000170.3(GLDC):c.1926+5G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 554522	NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)	GLDC (R630*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia +1 more	GPathogenic
Select item 558067	NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)	GLDC (A624fs)	Microsatellite (frameshift variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 557119	NM_000170.3(GLDC):c.1850+1G>T	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 556772	NM_000170.3(GLDC):c.1819G>A (p.Gly607Ser)	GLDC (G607S)	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 549990	NM_000170.3(GLDC):c.1738C>G (p.His580Asp)	GLDC (H580D)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 553781	NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)	GLDC (E575*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558562	NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)	GLDC (T559N)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 554528	NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)	GLDC (L555R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554912	NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)	GLDC (S551I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551376	NM_000170.3(GLDC):c.1642C>G (p.Leu548Val)	GLDC (L548V)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 554498	NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)	GLDC (R536W)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 462856	NM_000170.3(GLDC):c.1580+2T>G	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GPathogenic
Select item 557746	NM_000170.3(GLDC):c.1570G>C (p.Val524Leu)	GLDC (V524L)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
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 56043	NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	GLDC (R461Q)	Single nucleotide variant (missense variant)	GLDC-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 552091	NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)	GLDC (R461W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554282	NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)	GLDC (E448*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 56040	NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)	GLDC (R424*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 554914	NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile)	GLDC (L422I)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 554503	NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter)	GLDC (Y398*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 554514	NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)	GLDC (F395L)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 520959	NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	GLDC (R373W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 554517	NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)	GLDC (R362C)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 56037	NM_000170.3(GLDC):c.1054del (p.Thr352fs)	GLDC (T352fs)	Deletion (frameshift variant)	GLDC-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 554913	NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)	GLDC (P345T)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 56036	NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	GLDC (R337*)	Single nucleotide variant (nonsense)	Glycine encephalopathy 1 +2 more	GPathogenic
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 554650	NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)	GLDC (P304L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554300	NM_000170.3(GLDC):c.886C>T (p.Leu296Phe)	GLDC (L296F)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 558378	NM_000170.3(GLDC):c.851A>C (p.His284Pro)	GLDC (H284P)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 56106	NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)	GLDC (A283P)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 557511	NM_000170.3(GLDC):c.811G>A (p.Gly271Arg)	GLDC (G271R)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	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 556679	NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)	GLDC (P267L)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 558413	NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)	GLDC (P267A)	Single nucleotide variant (missense variant)	Glycine encephalopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 56103	NM_000170.3(GLDC):c.793del (p.Gln265fs)	GLDC (Q265fs)	Deletion (frameshift variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 555766	NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del)	GLDC (N214del)	Microsatellite (inframe_deletion)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 370365	NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	GLDC (E167*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551247	NM_000170.3(GLDC):c.335-1G>C	GLDC	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
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 555408	NM_000170.3(GLDC):c.334+1G>C	GLDC	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 555868	NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)	GLDC (L82S)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia +2 more	GConflicting classifications of pathogenicity
Select item 556477	NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del)	GLDC (D62del)	Microsatellite (inframe_deletion)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 553644	NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del)	GLDC	Deletion (inframe_deletion)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 557011	NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del)	GLDC	Deletion (inframe_deletion)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 367206	NM_000170.3(GLDC):c.142G>T (p.Gly48Trp)	GLDC (G48W)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 552137	NM_000170.3(GLDC):c.128del (p.Asp43fs)	GLDC (D43fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56092	NM_000170.3(GLDC):c.28del (p.Leu10fs)	GLDC (L10fs)	Deletion (frameshift variant)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 553731	NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)	GLDC (W8*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic
Select item 552944	NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)	GLDC (W8*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 551780	NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)	GLDC (Q2*)	Single nucleotide variant (nonsense)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic

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Items: 98