"Baylor Genetics"[submitter] AND "GBA2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241329	NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)	GBA2 (R518W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 844142	NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr)	GBA2 (A453T)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 576676	NM_020944.3(GBA2):c.959G>A (p.Arg320Gln)	GBA2 (R320Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +2 more	GUncertain significance
Select item 527983	NM_020944.3(GBA2):c.659G>A (p.Gly220Asp)	GBA2 (G220D)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 657136	NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)	GBA2 (C89S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +2 more	GUncertain significance
Select item 218781	NM_020944.3(GBA2):c.134G>C (p.Cys45Ser)	GBA2 (C45S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +3 more	GUncertain significance
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic

ClinVar