"Mendelics"[submitter] AND "AGL"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685508	NM_000642.3(AGL):c.74_75del (p.Leu25fs)	AGL (L25fs)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 801521	NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)	AGL (Y176* +2 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 242589	NC_000001.10:g.100330092T>A	AGL (L204* +2 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 801522	NM_000642.3(AGL):c.1734A>T (p.Arg578Ser)	AGL (R578S +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 801523	NM_000642.3(AGL):c.1900-13T>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III	GUncertain significance
Select item 801524	NM_000642.3(AGL):c.2083C>T (p.Gln695Ter)	AGL (Q679* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 1685509	NM_000642.3(AGL):c.2433+2T>C	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic
Select item 551333	NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	AGL (Q820fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 1685510	NM_000642.3(AGL):c.2950-1G>C	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 801525	NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter)	AGL (Y1148* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 801526	NM_000642.3(AGL):c.3636G>A (p.Met1212Ile)	AGL (M1212I +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 801527	NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter)	AGL (Q1197* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 633033	NM_000642.3(AGL):c.4221del (p.Lys1407fs)	AGL (K1391fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic