C0017922[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	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 973524	NM_000642.3(AGL):c.567dup (p.Arg190Ter)	AGL (R190* +1 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease type III	GLikely pathogenic
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 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 973525	NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs)	AGL (D485fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 973526	NM_000642.3(AGL):c.2399dup (p.Asp801fs)	AGL (D785fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GLikely pathogenic

ClinVar