C0085131[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 946	NM_000404.4(GLB1):c.1480-2A>G	GLB1	Single nucleotide variant (splice acceptor variant)	GM1 gangliosidosis +5 more	GPathogenic
Select item 932	NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	GLB1 (R482H +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +5 more	GPathogenic
Select item 167146	NM_000404.4(GLB1):c.1077del (p.Val360fs)	GLB1 (V330fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis +3 more	GPathogenic
Select item 167147	NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)	GLB1 (F357L +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2500729	NM_000404.4(GLB1):c.733+6T>C	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis	GPathogenic
Select item 1699092	NM_000404.4(GLB1):c.390G>A (p.Trp130Ter)	GLB1 (W100* +2 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis	GPathogenic
Select item 936	NM_000404.4(GLB1):c.75+2dup	GLB1, LOC129936434 +1 more	Duplication (5 prime UTR variant +1 more)	GM1 gangliosidosis +4 more	GPathogenic

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