ClinVar for MedGen (Select 369842) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635319	NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr)	AGL (I1226T +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 635318	NM_000642.3(AGL):c.2113A>G (p.Ile705Val)	AGL (I705V +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IIIa	GUncertain significance
Select item 635292	NM_000642.3(AGL):c.1083-2A>G	AGL	Single nucleotide variant (splice acceptor variant +1 more)	Glycogen storage disease IIIa	GPathogenic
Select item 635291	NM_000642.3(AGL):c.3837-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IIIa	GPathogenic
Select item 635290	NM_000642.3(AGL):c.2950-2A>G	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IIIa	GPathogenic
Select item 635289	NM_000642.3(AGL):c.847-3C>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease IIIa	GUncertain significance
Select item 633032	NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)	AGL (R469* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 432008	NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	AGL (E1056fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease type III +2 more	GPathogenic
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 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 188804	NM_000642.3(AGL):c.2309-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
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 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 1103	NM_000642.3(AGL):c.3965del (p.Val1322fs)	AGL (V1306fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1102	NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg)	AGL (G1448R +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IIIa	GPathogenic
Select item 1101	AGL, EcoRI FRAGMENT INS	AGL	Variation	Glycogen storage disease IIIa	GPathogenic
Select item 1100	NM_000642.3(AGL):c.1735+1G>T	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
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 1098	NM_000642.3(AGL):c.4456del (p.Ser1486fs)	AGL (S1470fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III +1 more	GPathogenic
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: 20