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Items: 70

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:155204694
GRCh38:
Chr1:155234903
GBA1, LOC106627981Gaucher disease type II, Parkinson disease, late-onset, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease perinatal lethal,
Gaucher disease type III
Likely benign
(Oct 4, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr1:155210894
GRCh38:
Chr1:155241103
GBA1S4PGaucher disease type II, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Lewy body dementia,
Gaucher disease type III, not provided
Uncertain significance
(Feb 27, 2023)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:155206217
GRCh38:
Chr1:155236426
GBA1, LOC106627981A261G, A299G, A348GGaucher disease type II, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Lewy body dementia,
Gaucher disease type III, not provided
Uncertain significance
(Mar 15, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:155205611
GRCh38:
Chr1:155235820
GBA1, LOC106627981W330G, W368G, W417GGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Parkinson disease, late-onset,
Lewy body dementia, Gaucher disease perinatal lethal, Gaucher disease type I,
Gaucher disease type III, not provided
Pathogenic/Likely pathogenic
(Sep 21, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:155206060
GRCh38:
Chr1:155236269
GBA1, LOC106627981M313I, M351I, M400IGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Parkinson disease, late-onset,
Lewy body dementia, Gaucher disease perinatal lethal, Gaucher disease type I,
Gaucher disease type III, Gaucher disease type I
Uncertain significance
(Mar 7, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:155205036
GRCh38:
Chr1:155235245
GBA1, LOC106627981Gaucher disease type II, Gaucher disease type IUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr1:155205514
GRCh38:
Chr1:155235723
GBA1, LOC106627981T362M, T400M, T449MGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Parkinson disease, late-onset,
Lewy body dementia, Gaucher disease perinatal lethal, Gaucher disease type I,
Gaucher disease type III, Gaucher disease type II, not provided,
Gaucher disease type I
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:155209780-155209781
GRCh38:
Chr1:155239989-155239990
GBA1, LOC106627981T69fsInborn genetic diseases, Gaucher disease, Lewy body dementia,
Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
not provided
Pathogenic/Likely pathogenic
(Apr 5, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:155208025
GRCh38:
Chr1:155238234
GBA1, LOC106627981P134T, P172T, P221TParkinson disease, late-onset, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease
Pathogenic/Likely pathogenic
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:155207217
GRCh38:
Chr1:155237426
GBA1, LOC106627981P218fs, P256fs, P305fsParkinson disease, late-onset, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease
Pathogenic/Likely pathogenic
(Jan 24, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:155208387
GRCh38:
Chr1:155238596
GBA1, LOC106627981R83H, R121H, R170HGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not specified
Conflicting interpretations of pathogenicity
(Aug 3, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr1:155207218
GRCh38:
Chr1:155237427
GBA1, LOC106627981P256A, P218A, P305AGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided
Conflicting interpretations of pathogenicity
(Oct 21, 2021)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr1:155207202
GRCh38:
Chr1:155237411
LOC106627981, GBA1S223N, S261N, S310NGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided
Conflicting interpretations of pathogenicity
(Aug 9, 2019)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr1:155207185
GRCh38:
Chr1:155237394
GBA1, LOC106627981R229C, R267C, R316CGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not specified, not provided,
Parkinson disease, late-onset
Conflicting interpretations of pathogenicity
(Dec 15, 2021)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr1:155207161
GRCh38:
Chr1:155237370
GBA1, LOC106627981R275C, R324C, R237CGaucher disease, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided
Conflicting interpretations of pathogenicity
(Nov 12, 2021)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr1:155206086
GRCh38:
Chr1:155236295
GBA1, LOC106627981R305W, R392W, R343WGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Pathogeniccriteria provided, single submitter
17.
GRCh37:
Chr1:155209737
GRCh38:
Chr1:155239946
LOC106627981, GBA1R83Cnot specified, not provided, Lewy body dementia,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease perinatal lethal, Parkinson disease, late-onset
Uncertain significance
(May 3, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:155204996
GRCh38:
Chr1:155235205
GBA1, LOC106627981V499M, V412M, V450Mnot provided, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease perinatal lethal, Parkinson disease, late-onset
Uncertain significance
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:155205472
GRCh38:
Chr1:155235681
GBA1, LOC106627981S376T, S414T, S463TGaucher disease type I, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease perinatal lethal, Parkinson disease, late-onset
Uncertain significance
(Aug 4, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:155205544
GRCh38:
Chr1:155235753
GBA1, LOC106627981S352N, S390N, S439NGaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III
Uncertain significance
(Oct 10, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr1:155204988
GRCh38:
Chr1:155235197
LOC106627981, GBA1N414K, N452K, N501KGaucher disease type II, not providedLikely pathogenic
(Jul 13, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:155209760-155209762
GRCh38:
Chr1:155239969-155239971
GBA1, LOC106627981T75delGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease, Lewy body dementia,
not provided, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia,
Gaucher disease type I, Gaucher disease type IIGaucher disease type III,
Gaucher disease perinatal lethal, Parkinson disease, late-onset, ...see more
Pathogenic/Likely pathogenic
(Jan 16, 2023)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:155207370
GRCh38:
Chr1:155237579
GBA1, LOC106627981Gaucher disease perinatal lethal, Parkinson disease, late-onset, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease, Parkinson disease, late-onset
Pathogenic/Likely pathogenic
(Nov 6, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:155208090-155208091
GRCh38:
Chr1:155238299-155238300
GBA1, LOC106627981L150fs, L199fs, L112fsGaucher disease perinatal lethal, Parkinson disease, late-onset, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease, Inborn genetic diseases,
not provided
Pathogenic
(Mar 22, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:155207203
GRCh38:
Chr1:155237412
GBA1, LOC106627981S310G, S261G, S223GGaucher disease perinatal lethal, Parkinson disease, late-onset, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, not provided
Pathogenic/Likely pathogenic
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:155204900-155204901
GRCh38:
Chr1:155235109-155235110
GBA1, LOC106627981not provided, Gaucher disease perinatal lethal, Parkinson disease, late-onset,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III
Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:155210432
GRCh38:
Chr1:155240641
GBA1S35LGaucher disease, Gaucher disease type I, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Lewy body dementia,
Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Parkinson disease, late-onset
Uncertain significance
(Jul 7, 2021)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:155206036
GRCh38:
Chr1:155236245
LOC106627981, GBA1Gaucher disease type II, Gaucher disease type I, Lewy body dementia,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
not provided
Conflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr1:155206208
GRCh38:
Chr1:155236417
GBA1, LOC106627981W351S, W302S, W264SLewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease
Likely pathogenic
(Nov 19, 2021)
criteria provided, multiple submitters, no conflicts
30.
Gaucher disease type ILikely pathogenic
(Sep 25, 2015)
no assertion criteria provided
31.
Gaucher disease type ILikely pathogenic
(Sep 25, 2015)
no assertion criteria provided
32.
GRCh37:
Chr1:155206158
GRCh38:
Chr1:155236367
GBA1, LOC106627981R368C, R281C, R319Cnot specified, not provided, Gaucher disease,
GBA1-related condition, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III
Conflicting interpretations of pathogenicity
(Dec 20, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:155208049
GRCh38:
Chr1:155238258
GBA1, LOC106627981L213F, L126F, L164FGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided, Gaucher disease
Conflicting interpretations of pathogenicity
(Apr 24, 2023)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr1:155205018
GRCh38:
Chr1:155235227
GBA1, LOC106627981not specified, not provided, Lewy body dementia,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:155207249
GRCh38:
Chr1:155237458
GBA1, LOC106627981H294Q, H245Q, H207Qnot specified, not provided, Gaucher disease type I,
Gaucher disease perinatal lethal, Inborn genetic diseases, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease
Conflicting interpretations of pathogenicity; other
(Apr 1, 2023)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr1:155207235
GRCh38:
Chr1:155237444
GBA1, LOC106627981I299T, I212T, I250TGaucher disease perinatal lethal, Parkinson disease, late-onset, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Likely pathogenic
(May 11, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:155207387
GRCh38:
Chr1:155237596
GBA1, LOC106627981Inborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Lewy body dementia, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not specified,
not provided
Benign/Likely benign
(Nov 1, 2021)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:155205541-155205595
GRCh38:
Chr1:155235750-155235804
GBA1, LOC106627981L335fs, L373fs, L422fsGaucher disease perinatal lethal, Parkinson disease, late-onset, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Pathogenic
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:155207965
GRCh38:
Chr1:155238174
LOC106627981, GBA1G241R, G154R, G192RGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease,
Parkinson disease, late-onset
Pathogenic/Likely pathogenic
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:155208005
GRCh38:
Chr1:155238214
GBA1, LOC106627981N227K, N140K, N178KGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided, Gaucher disease
Pathogenic/Likely pathogenic
(Feb 13, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:155208019
GRCh38:
Chr1:155238228
LOC106627981, GBA1W223R, W136R, W174RInborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Conflicting interpretations of pathogenicity
(Jun 24, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr1:155208061
GRCh38:
Chr1:155238270
GBA1, LOC106627981R209C, R160C, R122CGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Pathogenic/Likely pathogenic
(Dec 23, 2020)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:155208388
GRCh38:
Chr1:155238597
GBA1, LOC106627981R170C, R121C, R83CGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Pathogenic
(Apr 26, 2023)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:155205043
GRCh38:
Chr1:155235252
LOC106627981, GBA1L483R, L434R, L396RGaucher disease type III, GBA-related disorders, not provided,
Gaucher disease, Gaucher disease type I, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Pathogenic/Likely pathogenic
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:155206089
GRCh38:
Chr1:155236298
GBA1, LOC106627981V391L, V304L, V342LGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Pathogenic/Likely pathogenic
(Apr 18, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:155210420
GRCh38:
Chr1:155240629
GBA1Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIIInborn genetic diseases,
Parkinson disease, late-onset, Gaucher disease type I, not provided,
Gaucher disease, ...see more
Pathogenic/Likely pathogenic
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:155207983
GRCh38:
Chr1:155238192
GBA1, LOC106627981S235P, S148P, S186PInborn genetic diseases, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Lewy body dementia, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type I, Gaucher disease type IIGaucher disease type III,
not provided, Gaucher disease, Gaucher disease perinatal lethal,
...see more
Pathogenic/Likely pathogenic
(Nov 3, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:155204986
GRCh38:
Chr1:155235195
GBA1, LOC106627981R502H, R453H, R415HGaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, not provided,
Gaucher disease
Pathogenic/Likely pathogenic
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:155205047
GRCh38:
Chr1:155235256
GBA1, LOC106627981D395N, D433N, D482NParkinson disease, late-onset, Gaucher disease perinatal lethal, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, not specified
Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:155205518
Chr1:155207249
GRCh38:
Chr1:155235727
Chr1:155237458
GBA1, LOC106627981, GBA1, LOC106627981D448H, D361H, D399H, H294Q, H245Q, H207QGaucher disease type II, Gaucher disease type IIIPathogenic
(Apr 1, 2005)
no assertion criteria provided
51.
GRCh37:
Chr1:155207244
GRCh38:
Chr1:155237453
GBA1, LOC106627981R296Q, R209Q, R247QGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromenot provided,
Gaucher disease, Parkinson disease, late-onset, Gaucher disease type I,
...see more
Pathogenic
(Apr 21, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:155205614
GRCh38:
Chr1:155235823
GBA1, LOC106627981G416S, G329S, G367SParkinson disease, late-onset, Gaucher disease perinatal lethal, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIInot provided,
Gaucher disease, Gaucher disease type I, ...see more
Pathogenic/Likely pathogenic
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:155206068
GRCh38:
Chr1:155236277
GBA1, LOC106627981R398*, R349*, R311*Parkinson disease, late-onset, Gaucher disease perinatal lethal, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease,
Gaucher disease type I
Pathogenic
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:155209725
GRCh38:
Chr1:155239934
GBA1, LOC106627981R87WParkinson disease, late-onset, Gaucher disease perinatal lethal, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease,
Lewy body dementia, See cases ...see more
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:155206119
GRCh38:
Chr1:155236328
GBA1, LOC106627981C381G, C332G, C294GGaucher disease type IIPathogenic
(Dec 15, 1990)
no assertion criteria provided
56.
GRCh37:
Chr1:155206170
GRCh38:
Chr1:155236379
GBA1, LOC106627981G364R, G277R, G315RGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, not provided, Gaucher disease,
Gaucher disease perinatal lethal
Likely pathogenic
(Sep 27, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:155208006
GRCh38:
Chr1:155238215
GBA1, LOC106627981N227S, N140S, N178SGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromenot provided,
Gaucher disease, Gaucher disease type I, ...see more
Pathogenic
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:155204793
GRCh38:
Chr1:155235002
GBA1, LOC106627981R535H, R486H, R448HInborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIIGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, ...see more
Pathogenic/Likely pathogenic
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:155206175
GRCh38:
Chr1:155236384
GBA1, LOC106627981T362I, T275I, T313IParkinson disease, late-onset, Gaucher disease perinatal lethal, Lewy body dementia,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Pathogenic/Likely pathogenic
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:155210451-155210452
GRCh38:
Chr1:155240660-155240661
GBA1L29fsGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromenot provided,
Gaucher disease, Gaucher disease type I, ...see more
Pathogenic
(Oct 9, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:155207932
GRCh38:
Chr1:155238141
GBA1, LOC106627981F252I, F165I, F203IGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Inborn genetic diseases, not provided,
Gaucher disease
Pathogenic/Likely pathogenic
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:155207367
GRCh38:
Chr1:155237576
GBA1, LOC106627981F255Y, F168Y, F206YGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromenot provided,
Gaucher disease, Parkinson disease, late-onset, ...see more
Pathogenic/Likely pathogenic
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:155205043
Chr1:155205008
Chr1:155204994
GRCh38:
Chr1:155235252
Chr1:155235217
Chr1:155235203
GBA1, LOC106627981, GBA1, LOC106627981, GBA1, LOC106627981L483P, L396P, L434P, A495P, A408P, A446Pnot provided, Parkinson disease, late-onsetPathogenic
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:155204987
GRCh38:
Chr1:155235196
GBA1, LOC106627981R502C, R415C, R453CInborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIIGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, ...see more
Pathogenic
(Oct 15, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:155205518
GRCh38:
Chr1:155235727
GBA1, LOC106627981D448H, D361H, D399HInborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIIGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease perinatal lethal,
Gaucher disease type II, ...see more
Pathogenic/Likely pathogenic
(Aug 19, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:155205563
GRCh38:
Chr1:155235772
GBA1, LOC106627981V433L, V384L, V346LGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromenot provided,
Gaucher disease, Parkinson disease, late-onset, Gaucher disease type I,
...see more
Pathogenic/Likely pathogenic
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:155208420
GRCh38:
Chr1:155238629
GBA1, LOC106627981R159Q, R110Q, R72QGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, not provided, Gaucher disease
Pathogenic/Likely pathogenic
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:155205634
GRCh38:
Chr1:155235843
GBA1, LOC106627981N409S, N322S, N360SInborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type IIIGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Parkinson disease, Gaucher disease,
Parkinson disease, late-onset, Lewy body dementia, Gaucher disease perinatal lethal,
Gaucher disease type I, Akinesia, Rigidity,
...see more
Pathogenic/Likely pathogenic; risk factor
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:155205499
GRCh38:
Chr1:155235708
GBA1, LOC106627981P454R, P405R, P367RGaucher disease type IIPathogenic
(Nov 16, 2007)
no assertion criteria provided
70.
GRCh37:
Chr1:155205043
GRCh38:
Chr1:155235252
GBA1, LOC106627981L483P, L396P, L434PGBA1-related condition, Abnormality of movement, Resting tremor,
Parkinsonism, Thoracolumbar scoliosis, Hypomimic face,
Inborn genetic diseases, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onsetGaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
not provided, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease perinatal lethal, Gaucher disease type II,
Gaucher disease type III, ...see more
Pathogenic; risk factor
(Aug 16, 2023)
criteria provided, multiple submitters, no conflicts
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