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Links from MedGen

Items: 70

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:155204694
GRCh38:
Chr1:155234903
GBA1, LOC106627981Lewy body dementia, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease perinatal lethal		Likely benign
(Oct 4, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr1:155210894
GRCh38:
Chr1:155241103
GBA1S4PLewy 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		Uncertain significance
(Feb 27, 2023)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:155206217
GRCh38:
Chr1:155236426
GBA1, LOC106627981A261G, A299G, A348Gnot provided, 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		Uncertain significance
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:155205611
GRCh38:
Chr1:155235820
GBA1, LOC106627981W330G, W368G, W417Gnot provided, Lewy body dementia, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease perinatal lethal,
Parkinson disease, late-onset, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome		Pathogenic/Likely pathogenic
(Sep 21, 2021)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:155206060
GRCh38:
Chr1:155236269
GBA1, LOC106627981M313I, M351I, M400ILewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease perinatal lethal, Parkinson disease, late-onset,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I		Uncertain significance
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:155205514
GRCh38:
Chr1:155235723
GBA1, LOC106627981T362M, T400M, T449Mnot provided, Gaucher disease type II, Gaucher disease type I,
Lewy body dementia, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease perinatal lethal		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:155209780-155209781
GRCh38:
Chr1:155239989-155239990
GBA1, LOC106627981T69fsnot provided, Inborn genetic diseases, Gaucher disease,
Lewy body dementia, Gaucher disease perinatal lethal, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Parkinson disease, late-onset		Pathogenic/Likely pathogenic
(Apr 5, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:155208025
GRCh38:
Chr1:155238234
GBA1, LOC106627981P134T, P172T, P221TGaucher disease perinatal lethal, Lewy body dementia, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease		Pathogenic/Likely pathogenic
(Apr 19, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:155207217
GRCh38:
Chr1:155237426
GBA1, LOC106627981P218fs, P256fs, P305fsGaucher disease perinatal lethal, Lewy body dementia, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease		Pathogenic/Likely pathogenic
(Jan 24, 2022)		criteria provided, multiple submitters, no conflicts
10.
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
11.
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
12.
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
13.
GRCh37:
Chr1:155207185
GRCh38:
Chr1:155237394
GBA1, LOC106627981R229C, R267C, R316CGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided, Parkinson disease, late-onset,
not specified		Conflicting interpretations of pathogenicity
(Dec 15, 2021)		criteria provided, conflicting interpretations
14.
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
15.
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
16.
GRCh37:
Chr1:155209737
GRCh38:
Chr1:155239946
GBA1, LOC106627981R83Cnot specified, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Lewy body dementia,
Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided
Uncertain significance
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:155204996
GRCh38:
Chr1:155235205
GBA1, LOC106627981V499M, V412M, V450Mnot provided, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Lewy body dementia,
Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome		Uncertain significance
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:155205472
GRCh38:
Chr1:155235681
GBA1, LOC106627981S376T, S414T, S463TLewy 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 type I		Uncertain significance
(Aug 4, 2021)		criteria provided, multiple submitters, no conflicts
19.
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
20.
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, not provided, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease type IIGaucher disease type III,
Gaucher disease, Lewy body dementia, ...see more		Pathogenic/Likely pathogenic
(Jan 16, 2023)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:155207370
GRCh38:
Chr1:155237579
GBA1, LOC106627981Gaucher disease, 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, Parkinson disease, late-onset, Parkinson disease, late-onset
Pathogenic/Likely pathogenic
(Nov 6, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:155208090-155208091
GRCh38:
Chr1:155238299-155238300
GBA1, LOC106627981L150fs, L199fs, L112fsGaucher 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,
Lewy body dementia, Inborn genetic diseases, not provided,
Gaucher disease		Pathogenic
(Mar 22, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:155207203
GRCh38:
Chr1:155237412
GBA1, LOC106627981S310G, S261G, S223GLewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Parkinson disease, late-onset, not provided		Pathogenic/Likely pathogenic
(Sep 26, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:155204900-155204901
GRCh38:
Chr1:155235109-155235110
GBA1, LOC106627981not provided, Gaucher 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		Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:155210432
GRCh38:
Chr1:155240641
GBA1S35LLewy body dementia, Gaucher disease type I, Gaucher disease type II,
Gaucher disease type III, Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Parkinson disease, late-onset, Gaucher disease, Gaucher disease type I
Uncertain significance
(Jul 7, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:155206036
GRCh38:
Chr1:155236245
GBA1, LOC106627981Gaucher disease type II, Gaucher disease type I, 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,
not provided		Uncertain significance
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:155206208
GRCh38:
Chr1:155236417
LOC106627981, GBA1W351S, W302S, W264SGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease perinatal lethal, Lewy body dementia,
Gaucher disease type I, Parkinson disease, late-onset, Gaucher disease type II,
Gaucher disease type III, Gaucher disease		Likely pathogenic
(Nov 19, 2021)		criteria provided, multiple submitters, no conflicts
28.
Gaucher disease type ILikely pathogenic
(Sep 25, 2015)		no assertion criteria provided
29.
Gaucher disease type ILikely pathogenic
(Sep 25, 2015)		no assertion criteria provided
30.
GRCh37:
Chr1:155206158
GRCh38:
Chr1:155236367
GBA1, LOC106627981R368C, R281C, R319CGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided, Gaucher disease,
not specified		Conflicting interpretations of pathogenicity
(Aug 22, 2021)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr1:155207296
GRCh38:
Chr1:155237505
GBA1, LOC106627981L279V, L192V, L230VGaucher disease type IIIUncertain significance
(Dec 21, 2015)		no assertion criteria provided
32.
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
33.
GRCh37:
Chr1:155205018
GRCh38:
Chr1:155235227
LOC106627981, 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, not specified		Likely benign
(Oct 4, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:155207249
GRCh38:
Chr1:155237458
GBA1, LOC106627981H294Q, H245Q, H207QInborn genetic diseases, not specified, Gaucher disease,
Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease perinatal lethal,
not provided		Conflicting interpretations of pathogenicity; other
(Oct 1, 2022)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr1:155207235
GRCh38:
Chr1:155237444
GBA1, LOC106627981I299T, I212T, I250TGaucher disease perinatal lethal, Lewy body dementia, Gaucher disease type I,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, not provided, Gaucher disease
Likely pathogenic
(May 11, 2023)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:155207387
GRCh38:
Chr1:155237596
GBA1, LOC106627981Inborn genetic diseases, 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, Lewy body dementia, not specified,
not provided		Benign/Likely benign
(Nov 1, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:155205541-155205595
GRCh38:
Chr1:155235750-155235804
GBA1, LOC106627981L335fs, L373fs, L422fsGaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II,
Gaucher disease type III, Lewy body dementia, Gaucher disease perinatal lethal,
Parkinson disease, late-onset, not provided, Gaucher disease
Pathogenic
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:155207965
GRCh38:
Chr1:155238174
GBA1, LOC106627981G241R, 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
39.
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
40.
GRCh37:
Chr1:155208019
GRCh38:
Chr1:155238228
GBA1, LOC106627981W223R, W136R, W174RGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Inborn genetic diseases, not provided, Gaucher disease
Conflicting interpretations of pathogenicity
(Jun 24, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr1:155208061
GRCh38:
Chr1:155238270
GBA1, LOC106627981R209C, R160C, R122Cnot provided, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease
Pathogenic/Likely pathogenic
(Dec 23, 2020)		criteria provided, multiple submitters, no conflicts
42.
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
43.
GRCh37:
Chr1:155205043
GRCh38:
Chr1:155235252
GBA1, LOC106627981L483R, L434R, L396RGaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, not provided, Gaucher disease type III,
Gaucher disease, Gaucher disease type I		Pathogenic/Likely pathogenic
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:155206089
GRCh38:
Chr1:155236298
GBA1, LOC106627981V391L, V304L, V342Lnot provided, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease
Pathogenic/Likely pathogenic
(Apr 18, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:155210420
GRCh38:
Chr1:155240629
GBA1not provided, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease,
Gaucher disease type I, Inborn genetic diseases, Gaucher disease perinatal lethal,
Lewy body dementia, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeGaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Parkinson disease, late-onset,
Parkinson disease, late-onset, ...see more		Pathogenic/Likely pathogenic
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:155207983
GRCh38:
Chr1:155238192
GBA1, LOC106627981S235P, S148P, S186PInborn genetic diseases, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, 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,
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
47.
GRCh37:
Chr1:155204986
GRCh38:
Chr1:155235195
GBA1, LOC106627981R502H, R453H, R415HGaucher disease type II, Gaucher disease type III, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type I, not provided, Gaucher disease,
Gaucher disease type I		Pathogenic/Likely pathogenic
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:155205047
GRCh38:
Chr1:155235256
GBA1, LOC106627981D395N, D433N, D482NParkinson disease, late-onset, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease perinatal lethal,
Lewy body dementia, not specified, not provided
Likely benign
(Feb 23, 2022)		criteria provided, multiple submitters, no conflicts
49.
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
50.
GRCh37:
Chr1:155209507
GRCh38:
Chr1:155239716
GBA1, LOC106627981K118N, K31Nnot provided, Gaucher diseasePathogenic/Likely pathogenic
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:155207244
GRCh38:
Chr1:155237453
GBA1, LOC106627981R296Q, R209Q, R247QGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Gaucher disease type III,
Gaucher disease type I, not provided, Gaucher disease,
Parkinson disease, late-onset, Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease perinatal lethalGaucher disease type II,
Gaucher disease type III, 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-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease perinatal lethal,
Lewy body dementia, 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*Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease perinatal lethal, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Lewy body dementia,
Parkinson disease, late-onset, not provided, Gaucher disease,
Gaucher disease type I		Pathogenic
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:155206086
GRCh38:
Chr1:155236295
GBA1, LOC106627981R392G, R343G, R305GGaucher disease type IIIPathogenic
(Apr 1, 1998)		no assertion criteria provided
55.
GRCh37:
Chr1:155209725
GRCh38:
Chr1:155239934
GBA1, LOC106627981R87Wnot provided, Parkinson disease, late-onset, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type I, Gaucher disease type II, Gaucher disease type III,
Gaucher disease perinatal lethal, Lewy body dementia, Gaucher disease,
Lewy body dementia, See cases ...see more		Pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:155206170
GRCh38:
Chr1:155236379
GBA1, LOC106627981G364R, G277R, G315Rnot provided, Gaucher disease, Gaucher disease perinatal lethal,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease perinatal lethal,
Gaucher disease type II, Gaucher disease type III, Parkinson disease, late-onset,
Gaucher disease type I		Likely pathogenic
(Sep 27, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:155208006
GRCh38:
Chr1:155238215
GBA1, LOC106627981N227S, N140S, N178SGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease perinatal lethal,
Gaucher disease type II, Gaucher disease type III, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II,
Gaucher disease type III, Gaucher disease type Inot 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-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia,
Gaucher disease perinatal lethal, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type II, Gaucher disease type IIIGaucher disease type I,
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-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I,
Gaucher disease type II, Gaucher disease type III, Gaucher disease perinatal lethal,
Lewy body dementia, 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-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Gaucher disease type III,
Gaucher disease type I, not provided, Gaucher disease,
Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia,
Gaucher disease perinatal lethal, Gaucher disease type IIGaucher disease type III,
Parkinson disease, late-onset, 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, F203IInborn genetic diseases, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia,
Gaucher disease perinatal lethal, Gaucher disease type II, Gaucher disease type III,
Parkinson disease, late-onset, Gaucher disease type I, 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-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease perinatal lethal,
Gaucher disease type II, Gaucher disease type III, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II,
Gaucher disease type III, Gaucher disease type Inot provided,
Gaucher disease, Parkinson disease, late-onset, ...see more		Pathogenic/Likely pathogenic
(Apr 6, 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, not provided, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease perinatal lethal, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease type I,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type IIGaucher disease type III,
Gaucher disease type I, Gaucher disease, Parkinson disease, late-onset,
Gaucher disease type I, ...see more		Pathogenic
(Oct 15, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:155205517
GRCh38:
Chr1:155235726
GBA1, LOC106627981D448V, D361V, D399VGaucher disease type ILikely pathogenic
(Dec 21, 2015)		criteria provided, single submitter
66.
GRCh37:
Chr1:155205518
GRCh38:
Chr1:155235727
GBA1, LOC106627981D448H, D361H, D399HGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease perinatal lethal,
Gaucher disease type II, Gaucher disease type III, Parkinson disease, late-onset,
Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II,
Gaucher disease type III, Gaucher disease type Inot provided,
Gaucher disease, Parkinson disease, late-onset, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type II, Gaucher disease type I, Gaucher disease perinatal lethal,
Inborn genetic diseases, ...see more		Pathogenic/Likely pathogenic
(Aug 19, 2023)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:155205563
GRCh38:
Chr1:155235772
GBA1, LOC106627981V433L, V384L, V346LGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Gaucher disease type III,
Gaucher disease type I, not provided, Gaucher disease,
Parkinson disease, late-onset, Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease perinatal lethalGaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease type I,
...see more		Pathogenic/Likely pathogenic
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
68.
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
69.
GRCh37:
Chr1:155205634
GRCh38:
Chr1:155235843
GBA1, LOC106627981N409S, N322S, N360SInborn genetic diseases, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II,
Gaucher disease type III, Gaucher disease type I, not provided,
Gaucher disease, Parkinson disease, Lewy body dementia,
Parkinson disease, late-onset, Gaucher disease perinatal lethalGaucher disease type I,
Akinesia, Rigidity, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Lewy body dementia, Gaucher disease perinatal lethal, Gaucher disease type II,
Gaucher disease type III, Parkinson disease, late-onset, Gaucher disease type I,
...see more		Pathogenic/Likely pathogenic; risk factor
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:155205043
GRCh38:
Chr1:155235252
GBA1, LOC106627981L483P, L396P, L434PInborn genetic diseases, Abnormality of movement, Resting tremor,
Thoracolumbar scoliosis, Hypomimic face, Parkinsonism,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Lewy body dementia, Gaucher disease perinatal lethal,
Gaucher disease type II, Gaucher disease type IIIParkinson disease, late-onset,
Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II,
Gaucher disease type III, Gaucher disease type I, not provided,
Gaucher disease, Gaucher disease type II, Parkinson disease, late-onset,
Gaucher disease type III, Gaucher disease type I, Gaucher disease perinatal lethal,
...see more		Pathogenic; risk factor
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
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