"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GBA2"[gene - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 652063	NM_020944.3(GBA2):c.2425G>A (p.Val809Ile)	GBA2 (V809I)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 458301	NM_020944.3(GBA2):c.2201G>A (p.Arg734His)	GBA2 (R734H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 810377	NM_020944.3(GBA2):c.1855G>A (p.Asp619Asn)	GBA2 (D619N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 437457	NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys)	GBA2 (E499K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2579060	NM_020944.3(GBA2):c.1485G>A (p.Leu495=)	GBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 241328	NM_020944.3(GBA2):c.1420G>A (p.Ala474Thr)	GBA2 (A474T)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 2199707	NM_020944.3(GBA2):c.1399T>C (p.Leu467=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 416640	NM_020944.3(GBA2):c.1395G>A (p.Pro465=)	GBA2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 2659184	NM_020944.3(GBA2):c.1356C>T (p.Tyr452=)	GBA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 241327	NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)	GBA2 (R399P)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 810378	NM_020944.3(GBA2):c.1102C>T (p.Gln368Ter)	GBA2 (Q368*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 989170	NM_020944.3(GBA2):c.644G>A (p.Arg215His)	GBA2 (R215H)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 810379	NM_020944.3(GBA2):c.515G>A (p.Arg172His)	GBA2 (R172H)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 810380	NM_020944.3(GBA2):c.286G>A (p.Glu96Lys)	GBA2 (E96K)	Single nucleotide variant (missense variant)	not provided	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