C0268271[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1878580	NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)	GLB1 (D343G +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 528328	NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	GLB1 (R442Q +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
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 2585128	NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)	GLB1 (F357fs +3 more)	Indel (frameshift variant)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 2585573	NM_000404.4(GLB1):c.739A>G (p.Asn247Asp)	GLB1 (N247D +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GUncertain significance
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 936	NM_000404.4(GLB1):c.75+2dup	GLB1, LOC129936434 +1 more	Duplication (5 prime UTR variant +1 more)	GM1 gangliosidosis +4 more	GPathogenic
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