"Genome-Nilou Lab"[submitter] AND "GLB1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 733159	NM_000404.4(GLB1):c.2016A>G (p.Ser672=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +5 more	GConflicting classifications of pathogenicity
Select item 1210419	NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)	GLB1 (R464Q +3 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +5 more	GUncertain significance
Select item 1199319	NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)	GLB1 (M422T +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +3 more	GUncertain significance
Select item 167145	NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)	GLB1 (C521R +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +6 more	GBenign
Select item 92897	NM_000404.4(GLB1):c.1426C>T (p.Leu476=)	GLB1	Single nucleotide variant (synonymous variant)	Infantile GM1 gangliosidosis +3 more	GConflicting classifications of pathogenicity
Select item 924	NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	GLB1 (R457* +3 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 1210418	NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)	GLB1 (L143P +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +3 more	GUncertain significance
Select item 92905	NM_000404.4(GLB1):c.34T>C (p.Leu12=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign
Select item 92904	NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)	GLB1, LOC129936434 +1 more (P10L)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +6 more	GBenign