C0085131[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973576	NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)	GLB1 (R389W +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +2 more	GPathogenic/Likely pathogenic
Select item 973577	NM_000404.4(GLB1):c.1254C>G (p.Tyr418Ter)	GLB1 (Y466* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis	GPathogenic
Select item 817580	NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer)	GLB1	Deletion (nonsense)	not provided +2 more	GPathogenic

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