GBA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 696965	NM_020944.3(GBA2):c.2778A>C (p.Pro926=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1905642	NM_020944.3(GBA2):c.2777C>T (p.Pro926Leu)	GBA2 (P926L)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1152509	NM_020944.3(GBA2):c.2744T>C (p.Phe915Ser)	GBA2 (F915S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2181334	NM_020944.3(GBA2):c.2735G>A (p.Gly912Glu)	GBA2 (G912E)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2712516	NM_020944.3(GBA2):c.2718C>T (p.Gly906=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 653339	NM_020944.3(GBA2):c.2702C>G (p.Pro901Arg)	GBA2 (P901R)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3098827	NM_020944.3(GBA2):c.2701C>A (p.Pro901Thr)	GBA2 (P901T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 644394	NM_020944.3(GBA2):c.2683C>G (p.His895Asp)	GBA2 (H895D)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1946849	NM_020944.3(GBA2):c.2675A>T (p.Gln892Leu)	GBA2 (Q892L)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2720645	NM_020944.3(GBA2):c.2673A>G (p.Gln891=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 650307	NM_020944.3(GBA2):c.2636G>A (p.Arg879Gln)	GBA2 (R879Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely pathogenic
Select item 2712536	NM_020944.3(GBA2):c.2635C>T (p.Arg879Trp)	GBA2 (R879W)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GPathogenic
Select item 41490	NM_020944.3(GBA2):c.2618G>A (p.Arg873His)	GBA2 (R873H)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46 +1 more	GPathogenic/Likely pathogenic
Select item 2585505	NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)	GBA2 (R873C)	Single nucleotide variant (3 prime UTR variant +1 more)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 744908	NM_020944.3(GBA2):c.2610A>G (p.Arg870=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 528000	NM_020944.3(GBA2):c.2609G>A (p.Arg870Gln)	GBA2 (R870Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2440428	NM_020944.3(GBA2):c.2608C>T (p.Arg870Ter)	GBA2 (R870*)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46	GLikely pathogenic
Select item 2130083	NM_020944.3(GBA2):c.2598C>T (p.Tyr866=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 699047	NM_020944.3(GBA2):c.2574G>A (p.Leu858=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 653072	NM_020944.3(GBA2):c.2564G>A (p.Arg855His)	GBA2 (R855H)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 1009462	NM_020944.3(GBA2):c.2563C>T (p.Arg855Cys)	GBA2 (R855C)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 2052723	NM_020944.3(GBA2):c.2562G>A (p.Glu854=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 191235	NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)	GBA2 (R850C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 863295	NM_020944.3(GBA2):c.2540G>A (p.Gly847Asp)	GBA2 (G847D)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1802259	NM_020944.3(GBA2):c.2506-2A>G	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46	GLikely pathogenic
Select item 2854918	NM_020944.3(GBA2):c.2506-14A>G	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1208187	NM_020944.3(GBA2):c.2505+38T>G	GBA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017688	NM_020944.3(GBA2):c.2505+14T>C	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1590620	NM_020944.3(GBA2):c.2505+12dup	GBA2	Duplication (intron variant)	Spastic paraplegia	GLikely benign
Select item 2168195	NM_020944.3(GBA2):c.2481G>A (p.Gly827=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 508317	NM_020944.3(GBA2):c.2478C>T (p.Tyr826=)	GBA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 949747	NM_020944.3(GBA2):c.2467G>T (p.Gly823Cys)	GBA2 (G823C)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1157515	NM_020944.3(GBA2):c.2454T>C (p.Asp818=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1693999	NM_020944.3(GBA2):c.2450C>A (p.Ser817Tyr)	GBA2 (S817Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 652063	NM_020944.3(GBA2):c.2425G>A (p.Val809Ile)	GBA2 (V809I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 620390	NM_020944.3(GBA2):c.2413C>T (p.Gln805Ter)	GBA2 (Q805*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2741203	NM_020944.3(GBA2):c.2388G>A (p.Gly796=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1168060	NM_020944.3(GBA2):c.2367C>T (p.Asn789=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 3098825	NM_020944.3(GBA2):c.2338C>T (p.Arg780Cys)	GBA2 (R780C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1147839	NM_020944.3(GBA2):c.2331T>C (p.His777=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2627875	NM_020944.3(GBA2):c.2330A>C (p.His777Pro)	GBA2 (H777P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 700117	NM_020944.3(GBA2):c.2314-8C>T	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1620792	NM_020944.3(GBA2):c.2313+7GAG[5]	GBA2	Microsatellite (intron variant)	Spastic paraplegia	GBenign
Select item 2862943	NM_020944.3(GBA2):c.2313+16G>C	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2126684	NM_020944.3(GBA2):c.2274G>A (p.Trp758Ter)	GBA2 (W758*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 989142	NM_020944.3(GBA2):c.2248_2249del (p.Met750fs)	GBA2 (M750fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 46	GPathogenic
Select item 2160325	NM_020944.3(GBA2):c.2240G>A (p.Arg747His)	GBA2 (R747H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1309852	NM_020944.3(GBA2):c.2239C>T (p.Arg747Cys)	GBA2 (R747C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764752	NM_020944.3(GBA2):c.2229G>C (p.Arg743=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 642848	NM_020944.3(GBA2):c.2228G>A (p.Arg743Gln)	GBA2 (R743Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 567447	NM_020944.3(GBA2):c.2202del (p.Tyr735fs)	GBA2 (Y735fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 46 +1 more	GPathogenic
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 3280887	NM_020944.3(GBA2):c.2200C>T (p.Arg734Cys)	GBA2 (R734C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1966040	NM_020944.3(GBA2):c.2198-6C>T	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2718448	NM_020944.3(GBA2):c.2197+9G>A	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3034038	NM_020944.3(GBA2):c.2197+8C>T	GBA2	Single nucleotide variant (intron variant)	GBA2-related disorder	GLikely benign
Select item 659528	NM_020944.3(GBA2):c.2197+3G>A	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 3337137	NM_020944.3(GBA2):c.2192G>A (p.Trp731Ter)	GBA2 (W731*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2067102	NM_020944.3(GBA2):c.2182A>C (p.Arg728=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3379862	NM_020944.3(GBA2):c.2180A>G (p.Glu727Gly)	GBA2 (E727G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989141	NM_020944.3(GBA2):c.2166_2176del (p.Gly722_Gln723insTer)	GBA2	Deletion (frameshift variant)	Hereditary spastic paraplegia 46	GPathogenic
Select item 935487	NM_020944.3(GBA2):c.2173G>A (p.Ala725Thr)	GBA2 (A725T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2142478	NM_020944.3(GBA2):c.2166C>A (p.Gly722=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1045333	NM_020944.3(GBA2):c.2161C>T (p.Arg721Trp)	GBA2 (R721W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2163638	NM_020944.3(GBA2):c.2159G>T (p.Ser720Ile)	GBA2 (S720I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2082755	NM_020944.3(GBA2):c.2135A>G (p.Gln712Arg)	GBA2 (Q712R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1160774	NM_020944.3(GBA2):c.2121G>A (p.Gly707=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1108276	NM_020944.3(GBA2):c.2115G>A (p.Leu705=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign

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