"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 659775	NM_020944.3(GBA2):c.2699G>A (p.Trp900Ter)	GBA2 (W900*)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 458302	NM_020944.3(GBA2):c.2220C>A (p.Ser740Arg)	GBA2 (S740R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 458301	NM_020944.3(GBA2):c.2201G>A (p.Arg734His)	GBA2 (R734H)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344337	NM_020944.3(GBA2):c.1848T>C (p.Asp616=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 416641	NM_020944.3(GBA2):c.1795+7G>A	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GBenign
Select item 444770	NM_020944.3(GBA2):c.1688-8T>C	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 411202	NM_020944.3(GBA2):c.1561G>A (p.Gly521Ser)	GBA2 (G521S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 721499	NM_020944.3(GBA2):c.1428C>T (p.Tyr476=)	GBA2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 416640	NM_020944.3(GBA2):c.1395G>A (p.Pro465=)	GBA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 458299	NM_020944.3(GBA2):c.1358C>A (p.Ala453Glu)	GBA2 (A453E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 416639	NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser)	GBA2 (G423S)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GBenign
Select item 241327	NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)	GBA2 (R399P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 416642	NM_020944.3(GBA2):c.1037C>T (p.Thr346Met)	GBA2 (T346M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1087699	NM_020944.3(GBA2):c.964C>T (p.Leu322=)	GBA2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 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 241331	NM_020944.3(GBA2):c.946G>A (p.Gly316Arg)	GBA2 (G316R)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GBenign
Select item 641362	NM_020944.3(GBA2):c.746C>T (p.Thr249Ile)	GBA2 (T249I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 660629	NM_020944.3(GBA2):c.704C>G (p.Ala235Gly)	GBA2 (A235G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 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 1344340	NM_020944.3(GBA2):c.490C>T (p.Arg164Cys)	GBA2 (R164C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 696124	NM_020944.3(GBA2):c.326G>A (p.Ser109Asn)	GBA2 (S109N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344339	NM_020944.3(GBA2):c.300C>G (p.Pro100=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344338	NM_020944.3(GBA2):c.1A>T (p.Met1Leu)	GBA2 (M1L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1344336	NM_020944.3(GBA2):c.-162G>A	GBA2	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia	GUncertain significance

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Items: 25