C0268272[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 940	NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	GLB1 (G438E +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 941	NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	GLB1 (R351* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis +6 more	GPathogenic
Select item 807421	NM_000404.4(GLB1):c.716C>T (p.Thr239Met)	GLB1 (T239M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 553205	NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	GLB1 (S149F +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +2 more	GPathogenic
Select item 92907	NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	GLB1 (R148C +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +5 more	GPathogenic/Likely pathogenic
Select item 945	NM_000404.4(GLB1):c.176G>A (p.Arg59His)	GLB1 (R59H +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 3 +7 more	GPathogenic/Likely pathogenic

ClinVar