ClinVar for MedGen (Select 369843) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195097	NM_000642.3(AGL):c.18_19del (p.Gln6fs)	AGL (Q6fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1105	NM_000642.3(AGL):c.4259+5G>A	AGL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1104	NM_000642.3(AGL):c.1999del (p.Gln667fs)	AGL (Q651fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease IIIb	GPathogenic
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 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 1095	NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	AGL (Q6*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar