C0017922[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291320	NM_000642.2(AGL):c.-208C>T	AGL	Single nucleotide variant (genic upstream transcript variant)	Glycogen storage disease type III	GUncertain significance
Select item 291321	NM_000642.2(AGL):c.-134C>G	AGL	Single nucleotide variant (genic upstream transcript variant)	Glycogen storage disease type III	GUncertain significance
Select item 631557	NM_000642.3(AGL):c.-69+1G>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GUncertain significance
Select item 195096	NM_000642.3(AGL):c.-10A>G	AGL	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1095	NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	AGL (Q6*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195097	NM_000642.3(AGL):c.18_19del (p.Gln6fs)	AGL (Q6fs)	Deletion (frameshift variant)	Glycogen storage disease type III +2 more	GPathogenic/Likely pathogenic
Select item 557911	NM_000642.3(AGL):c.22del (p.Arg8fs)	AGL (R8fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 370924	NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	AGL (R8*)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 287104	NM_000642.3(AGL):c.39C>T (p.Asn13=)	AGL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 371162	NM_000642.3(AGL):c.64del (p.Leu22fs)	AGL (L22fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 291322	NM_000642.3(AGL):c.82+4A>C	AGL	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1206245	NM_000642.3(AGL):c.82+1565T>G	AGL (I7S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 256750	NM_000642.3(AGL):c.83-33C>T	AGL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 551083	NM_000642.3(AGL):c.83-17_83-16del	AGL	Deletion (intron variant)	Glycogen storage disease type III	GLikely benign
Select item 188818	NM_000642.3(AGL):c.94C>T (p.Gln32Ter)	AGL (Q32* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 188743	NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	AGL (R34* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 512135	NM_000642.3(AGL):c.103T>C (p.Leu35=)	AGL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 370535	NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	AGL (L35* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 256718	NM_000642.3(AGL):c.112A>G (p.Thr38Ala)	AGL (T38A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 189045	NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	AGL (Q40* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 2043208	NM_000642.3(AGL):c.122G>A (p.Gly41Glu)	AGL (G41E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 945853	NM_000642.3(AGL):c.187C>T (p.Arg63Cys)	AGL (R47C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 967438	NM_000642.3(AGL):c.188G>A (p.Arg63His)	AGL (R47H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 256726	NM_000642.3(AGL):c.207T>C (p.Asn69=)	AGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 940640	NM_000642.3(AGL):c.214_215del (p.Glu72fs)	AGL (E56fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 554853	NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)	AGL	Deletion (frameshift variant +1 more)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 565832	NM_000642.3(AGL):c.248T>G (p.Leu83Arg)	AGL (L83R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 196286	NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	AGL (Q86* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +2 more	GPathogenic/Likely pathogenic
Select item 390684	NM_000642.3(AGL):c.261A>G (p.Gln87=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 371401	NM_000642.3(AGL):c.276del (p.Gln92fs)	AGL (Q92fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 497124	NM_000642.3(AGL):c.289C>T (p.Gln97Ter)	AGL (Q97* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 370565	NM_000642.3(AGL):c.293+1del	AGL	Deletion (splice donor variant +1 more)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 515018	NM_000642.3(AGL):c.293+3A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 370920	NM_000642.3(AGL):c.294-2A>T	AGL	Single nucleotide variant (splice acceptor variant +1 more)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 291323	NM_000642.3(AGL):c.318C>T (p.Tyr106=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 972445	NM_000642.3(AGL):c.325G>T (p.Val109Leu)	AGL (V93L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 291324	NM_000642.3(AGL):c.334A>G (p.Ile112Val)	AGL (I112V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 576547	NM_000642.3(AGL):c.341G>A (p.Arg114His)	AGL (R114H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +3 more	GUncertain significance
Select item 738595	NM_000642.3(AGL):c.344T>C (p.Val115Ala)	AGL (V99A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 370199	NM_000642.3(AGL):c.348_373del (p.Ala117fs)	AGL (A101fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 876882	NM_000642.3(AGL):c.367C>G (p.Pro123Ala)	AGL (P107A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 861380	NM_000642.3(AGL):c.413G>A (p.Gly138Glu)	AGL (G138E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 552089	NM_000642.3(AGL):c.420TGA[1] (p.Asp141del)	AGL (D141del +1 more)	Microsatellite (inframe_indel +1 more)	Glycogen storage disease type III	GUncertain significance
Select item 983783	NM_000642.3(AGL):c.454G>T (p.Glu152Ter)	AGL (E136* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 550726	NM_000642.3(AGL):c.460+1G>A	AGL	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 550843	NM_000642.3(AGL):c.500dup (p.Leu168fs)	AGL (L168fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 197686	NM_000642.3(AGL):c.535_538del (p.Leu179fs)	AGL (L163fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 871863	NM_000642.3(AGL):c.573G>C (p.Lys191Asn)	AGL (K191N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 862529	NM_000642.3(AGL):c.595C>T (p.Gln199Ter)	AGL (Q183* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 291326	NM_000642.3(AGL):c.609A>G (p.Lys203=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 1365212	NM_000642.3(AGL):c.613A>T (p.Lys205Ter)	AGL (K205* +2 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 456512	NM_000642.3(AGL):c.622T>C (p.Trp208Arg)	AGL (W208R +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 550254	NM_000642.3(AGL):c.664+1G>A	AGL	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 188994	NM_000642.3(AGL):c.664+3A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 256749	NM_000642.3(AGL):c.686A>G (p.Gln229Arg)	AGL (Q229R +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 370509	NM_000642.3(AGL):c.753_756del (p.Asp251fs)	AGL (D235fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 439395	NM_000642.3(AGL):c.767G>A (p.Arg256His)	AGL (R256H +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 842722	NM_000642.3(AGL):c.818C>G (p.Ala273Gly)	AGL (A257G +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 2164238	NM_000642.3(AGL):c.833A>G (p.Asp278Gly)	AGL (D262G +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 580874	NM_000642.3(AGL):c.837C>A (p.His279Gln)	AGL (H279Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 456514	NM_000642.3(AGL):c.846+8T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +2 more	GUncertain significance
Select item 389050	NM_000642.3(AGL):c.846+14G>A	AGL	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 291327	NM_000642.3(AGL):c.847-7T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GUncertain significance
Select item 550128	NM_000642.3(AGL):c.853C>T (p.Arg285Ter)	AGL (R285* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 555703	NM_000642.3(AGL):c.854del (p.Arg285fs)	AGL (R269fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 385974	NM_000642.3(AGL):c.854G>A (p.Arg285Gln)	AGL (R285Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 641579	NM_000642.3(AGL):c.861_864del (p.Ile288fs)	AGL (I272fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 291328	NM_000642.3(AGL):c.880C>T (p.Pro294Ser)	AGL (P294S +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1322907	NM_000642.3(AGL):c.891dup (p.Leu298fs)	AGL (L282fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 198432	NM_000642.3(AGL):c.894C>T (p.Leu298=)	AGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1313526	NM_000642.3(AGL):c.895T>G (p.Trp299Gly)	AGL (W283G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 935443	NM_000642.3(AGL):c.907C>T (p.Gln303Ter)	AGL (Q287* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 1441147	NM_000642.3(AGL):c.922A>G (p.Lys308Glu)	AGL (K292E +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 500887	NM_000642.3(AGL):c.931G>A (p.Glu311Lys)	AGL (E311K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 550103	NM_000642.3(AGL):c.958+1G>A	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic
Select item 256751	NM_000642.3(AGL):c.959-18G>A	AGL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 507752	NM_000642.3(AGL):c.959-15T>C	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 1133080	NM_000642.3(AGL):c.966G>A (p.Arg322=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GLikely benign
Select item 526570	NM_000642.3(AGL):c.967C>T (p.Arg323Ter)	AGL (R323* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 456516	NM_000642.3(AGL):c.968G>A (p.Arg323Gln)	AGL (R323Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 1409248	NM_000642.3(AGL):c.974C>G (p.Thr325Ser)	AGL (T325S +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 862665	NM_000642.3(AGL):c.996C>A (p.His332Gln)	AGL (H316Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 521450	NM_000642.3(AGL):c.1000dup (p.Thr334fs)	AGL (T318fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1027598	NM_000642.3(AGL):c.1020del (p.Glu340fs)	AGL (E324fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III +1 more	GPathogenic
Select item 623696	NM_000642.3(AGL):c.1024A>G (p.Arg342Gly)	AGL (R342G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445557	NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)	AGL (R343Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 843349	NM_000642.3(AGL):c.1042G>A (p.Val348Ile)	AGL (V348I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1434374	NM_000642.3(AGL):c.1049T>C (p.Met350Thr)	AGL (M334T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 291329	NM_000642.3(AGL):c.1050G>A (p.Met350Ile)	AGL (M350I +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 966194	NM_000642.3(AGL):c.1054A>G (p.Ile352Val)	AGL (I352V +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 291330	NM_000642.3(AGL):c.1065G>A (p.Thr355=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 848025	NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro)	AGL	Duplication (inframe_insertion +1 more)	Glycogen storage disease type III	GUncertain significance
Select item 456449	NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)	AGL (P359L +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 371296	NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	AGL (H360Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 509467	NM_000642.3(AGL):c.1082+4T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 1492483	NM_000642.3(AGL):c.1083C>G (p.Asp361Glu)	AGL (D361E +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1025728	NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)	AGL (E364G +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 256719	NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)	AGL (K385N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 199034	NM_000642.3(AGL):c.1160G>A (p.Arg387Gln)	AGL (R387Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1002645	NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)	AGL (I373F +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance

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