C0268272[trait identifier] AND "Foundation for Research in Genetics an - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684406	NM_000404.4(GLB1):c.495_497del (p.Leu166del)	GLB1 (L136del +3 more)	Deletion (inframe_deletion)	GM1 gangliosidosis +2 more	GConflicting classifications of pathogenicity
Select item 92907	NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	GLB1 (R148C +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 264673	NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	GLB1 (W92* +2 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis +5 more	GPathogenic
Select item 684412	NM_000404.4(GLB1):c.253C>A (p.Pro85Thr)	GLB1 (P55T +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2	GUncertain significance
Select item 923	NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	GLB1 (R49C +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 3 +5 more	GConflicting classifications of pathogenicity
Select item 555329	NM_000404.4(GLB1):c.65_75+1del	TMPPE, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic/Likely pathogenic

ClinVar