"Revvity Omics, Revvity"[submitter] AND "AGL"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 370509	NM_000642.3(AGL):c.753_756del (p.Asp251fs)	AGL (D235fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 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 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 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 2440278	NM_000642.3(AGL):c.1113dup (p.Asn372Ter)	AGL (N356* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
Select item 1106	NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)	AGL (R408* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1023992	NM_000642.3(AGL):c.1235A>G (p.His412Arg)	AGL (H396R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 580077	NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)	AGL (T513S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2438918	NM_000642.3(AGL):c.1735G>C (p.Glu579Gln)	AGL (E563Q +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 2191475	NM_000642.3(AGL):c.1758T>C (p.Ser586=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 1096	NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	AGL (W680* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1352312	NM_000642.3(AGL):c.2366A>C (p.Tyr789Ser)	AGL (Y789S +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 456470	NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)	AGL (N797S +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 370992	NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	AGL (R977* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 291339	NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)	AGL (Q989R +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 2440246	NM_000642.3(AGL):c.3299del (p.Gly1100fs)	AGL (G1084fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 1322918	NM_000642.3(AGL):c.3362+2T>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 550759	NM_000642.3(AGL):c.3589-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 2438917	NM_000642.3(AGL):c.3757C>T (p.Arg1253Cys)	AGL (R1237C +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1175740	NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs)	AGL (T1242fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2440355	NM_000642.3(AGL):c.3787del (p.Met1263fs)	AGL (M1247fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 1103	NM_000642.3(AGL):c.3965del (p.Val1322fs)	AGL (V1306fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1108	NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	AGL (W1327* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 557161	NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)	AGL (A1397T +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GConflicting classifications of pathogenicity
Select item 1099	NM_000642.3(AGL):c.4260-12A>G	AGL	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1322900	NM_000642.3(AGL):c.4448del (p.Asn1483fs)	AGL (N1467fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 456508	NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	AGL (R1487* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 1094	NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	AGL (Y1510* +1 more)	Duplication (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic

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Items: 33