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Items: 94

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:97372101-97373624
GRCh38:
Chr10:95612344-95613867
ALDH18A1, LOC121815958ALDH18A1-related de Barsy syndromePathogenic
(Aug 1, 2014)		no assertion criteria provided
2.
GRCh37:
Chr10:97397096
GRCh38:
Chr10:95637339
ALDH18A1S134F, S23FALDH18A1-related de Barsy syndromePathogenic
(May 4, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr10:97402964
GRCh38:
Chr10:95643207
ALDH18A1ALDH18A1-related de Barsy syndrome, Autosomal recessive complex spastic paraplegia type 9B, Cutis laxa, autosomal dominant 3,
Hereditary spastic paraplegia 9A		Uncertain significance
(Apr 23, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr10:97412921
GRCh38:
Chr10:95653164
ALDH18A1not provided, Autosomal recessive complex spastic paraplegia type 9B, Hereditary spastic paraplegia 9A,
Cutis laxa, autosomal dominant 3, ALDH18A1-related de Barsy syndrome		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr10:97416465
GRCh38:
Chr10:95656708
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
6.
GRCh37:
Chr10:97366226
GRCh38:
Chr10:95606469
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
7.
GRCh37:
Chr10:97365908
GRCh38:
Chr10:95606151
ALDH18A1ALDH18A1-related de Barsy syndromeBenign
(Jan 12, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr10:97365875
GRCh38:
Chr10:95606118
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr10:97416369
GRCh38:
Chr10:95656612
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr10:97402788
GRCh38:
Chr10:95643031
ALDH18A1ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
de Barsy syndrome		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr10:97373784
GRCh38:
Chr10:95614027
ALDH18A1S469R, S467R, S578R, S580R, S545R, S368Rnot provided, ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A,
Autosomal recessive complex spastic paraplegia type 9B, Cutis laxa, autosomal dominant 3, ALDH18A1-related de Barsy syndrome,
Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3, de Barsy syndrome
Uncertain significance
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:97373736
GRCh38:
Chr10:95613979
ALDH18A1K483N, K384N, K594N, K596N, K485N, K561NALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
de Barsy syndrome		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr10:97388262
GRCh38:
Chr10:95628505
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr10:97388252
GRCh38:
Chr10:95628495
ALDH18A1de Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
ALDH18A1-related condition, ALDH18A1-related de Barsy syndrome, not provided
Uncertain significance
(May 25, 2023)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:97388239
GRCh38:
Chr10:95628482
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr10:97388112
GRCh38:
Chr10:95628355
ALDH18A1Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3, de Barsy syndrome,
ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr10:97370025
GRCh38:
Chr10:95610268
ALDH18A1Q677R, Q500R, Q599R, Q601R, Q710R, Q712RALDH18A1-related de Barsy syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr10:97387304
GRCh38:
Chr10:95627547
ALDH18A1V113I, V214I, V323I, V325I, V212I, V290IALDH18A1-related de Barsy syndrome, ALDH18A1-related condition, Hereditary spastic paraplegia 9A,
de Barsy syndrome, Cutis laxa, autosomal dominant 3, not provided,
Hereditary spastic paraplegia		Uncertain significance
(Oct 19, 2023)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:97385196
GRCh38:
Chr10:95625439
ALDH18A1H279R, H355R, H178R, H277R, H388R, H390RALDH18A1-related de Barsy syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr10:97380862
GRCh38:
Chr10:95621105
ALDH18A1E430K, E253K, E463K, E465K, E352K, E354Kde Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
not provided, ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A
Uncertain significance
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:97387318
GRCh38:
Chr10:95627561
ALDH18A1Q285R, Q318R, Q207R, Q320R, Q108R, Q209RALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3
Uncertain significance
(Feb 4, 2019)		criteria provided, single submitter
22.
GRCh37:
Chr10:97366661
GRCh38:
Chr10:95606904
ALDH18A1R636Q, R747Q, R638Q, R714Q, R749Q, R537QALDH18A1-related de Barsy syndrome, not providedPathogenic
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr10:97380807
GRCh38:
Chr10:95621050
ALDH18A1R370H, R372H, R448H, R271H, R481H, R483HALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
de Barsy syndrome, Inborn genetic diseases, not provided
Uncertain significance
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr10:97376366
GRCh38:
Chr10:95616609
ALDH18A1ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3
Likely benign
(Dec 31, 2019)		criteria provided, single submitter
25.
GRCh37:
Chr10:97366572
GRCh38:
Chr10:95606815
ALDH18A1S668G, S779G, S666G, S777G, S567G, S744Gde Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
Inborn genetic diseases, ALDH18A1-related de Barsy syndrome, not provided
Conflicting interpretations of pathogenicity
(May 20, 2022)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr10:97397196
GRCh38:
Chr10:95637439
ALDH18A1not provided, de Barsy syndrome, Hereditary spastic paraplegia 9A,
Cutis laxa, autosomal dominant 3, ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr10:97366746
GRCh38:
Chr10:95606989
ALDH18A1Cutis laxa, autosomal dominant 3, Autosomal recessive complex spastic paraplegia type 9B, Hereditary spastic paraplegia 9A,
not provided, ALDH18A1-related de Barsy syndrome		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr10:97370989
GRCh38:
Chr10:95611232
ALDH18A1Cutis laxa, autosomal dominant 3, Autosomal recessive complex spastic paraplegia type 9B, Hereditary spastic paraplegia 9A,
not provided, ALDH18A1-related de Barsy syndrome		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr10:97373966
GRCh38:
Chr10:95614209
ALDH18A1Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3, Autosomal recessive complex spastic paraplegia type 9B,
not provided, ALDH18A1-related de Barsy syndrome		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:97402883
GRCh38:
Chr10:95643126
ALDH18A1H57Nnot provided, Cutis laxa, autosomal dominant 3, de Barsy syndrome,
Hereditary spastic paraplegia 9A		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:97413046
GRCh38:
Chr10:95653289
ALDH18A1not provided, ALDH18A1-Related Disorders, ALDH18A1-related disorder,
Cutis laxa, autosomal dominant 3, de Barsy syndrome, Hereditary spastic paraplegia 9A,
ALDH18A1-related de Barsy syndrome		Likely pathogenic
(Apr 20, 2023)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:97376340
GRCh38:
Chr10:95616583
ALDH18A1G500V, G288V, G387V, G389V, G465V, G498VALDH18A1-related de Barsy syndromePathogenic
(May 17, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr10:97380982
GRCh38:
Chr10:95621225
ALDH18A1R425C, R213C, R390C, R423C, R314C, R312CALDH18A1-related de Barsy syndrome, not providedConflicting interpretations of pathogenicity
(Jul 20, 2020)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr10:97402875
GRCh38:
Chr10:95643118
ALDH18A1K59fsALDH18A1-related de Barsy syndromeLikely pathogenic
(Sep 14, 2016)		criteria provided, single submitter
35.
GRCh37:
Chr10:97376235
GRCh38:
Chr10:95616478
ALDH18A1L535Q, L323Q, L424Q, L500Q, L422Q, L533Qde Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
ALDH18A1-related de Barsy syndrome		Uncertain significance
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr10:97380773
GRCh38:
Chr10:95621016
ALDH18A1Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3, de Barsy syndrome,
not specified, ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Jul 29, 2022)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr10:97380887
GRCh38:
Chr10:95621130
ALDH18A1de Barsy syndrome, Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia 9A,
ALDH18A1-related de Barsy syndrome, not provided		Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr10:97392783
GRCh38:
Chr10:95633026
ALDH18A1D134fs, D212fs, D35fs, D136fs, D245fs, D247fsde Barsy syndrome, Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia 9A,
ALDH18A1-related de Barsy syndrome		Pathogenic
(Dec 8, 2016)		criteria provided, single submitter
39.
GRCh37:
Chr10:97380941
GRCh38:
Chr10:95621184
ALDH18A1Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3, de Barsy syndrome,
not provided, ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr10:97371181
GRCh38:
Chr10:95611424
ALDH18A1P648S, P436S, P537S, P613S, P535S, P646SHereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3
Uncertain significance
(Aug 5, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr10:97380940
GRCh38:
Chr10:95621183
ALDH18A1G439S, G326S, G404S, G227S, G437S, G328SALDH18A1-related de Barsy syndrome, not provided, Hereditary spastic paraplegia 9A,
de Barsy syndrome, Cutis laxa, autosomal dominant 3		Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr10:97373555
GRCh38:
Chr10:95613798
ALDH18A1D623N, D510N, D588N, D621N, D411N, D512Nde Barsy syndrome, Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia 9A,
not provided, ALDH18A1-related de Barsy syndrome, Autosomal recessive complex spastic paraplegia type 9B,
Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia 9A		Uncertain significance
(Oct 12, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr10:97370000
GRCh38:
Chr10:95610243
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
not provided, ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr10:97387286
GRCh38:
Chr10:95627529
ALDH18A1T331P, T220P, T329P, T218P, T119P, T296PAutosomal recessive complex spastic paraplegia type 9B, Spondyloepiphyseal dysplasia, Stanescu type, not provided,
Inborn genetic diseases		Conflicting interpretations of pathogenicity
(Oct 23, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr10:97366675
GRCh38:
Chr10:95606918
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
not provided, Hereditary spastic paraplegia, ALDH18A1-related de Barsy syndrome
Conflicting interpretations of pathogenicity
(May 1, 2023)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr10:97392743
GRCh38:
Chr10:95632986
ALDH18A1L261I, L226I, L259I, L148I, L49I, L150IHereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
ALDH18A1-related de Barsy syndrome, not provided		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:97366562
GRCh38:
Chr10:95606805
ALDH18A1Y782S, Y669S, Y570S, Y747S, Y671S, Y780Snot provided, ALDH18A1-related de Barsy syndromeConflicting interpretations of pathogenicity
(Oct 10, 2018)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr10:97416445
GRCh38:
Chr10:95656688
ALDH18A1not provided, ALDH18A1-related de Barsy syndromeLikely benign
(Sep 11, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr10:97416404
GRCh38:
Chr10:95656647
ALDH18A1not provided, Hereditary spastic paraplegia, ALDH18A1-related de Barsy syndrome
Benign/Likely benign
(May 10, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr10:97416392
GRCh38:
Chr10:95656635
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr10:97416344
GRCh38:
Chr10:95656587
ALDH18A1not specified, ALDH18A1-related de Barsy syndromeConflicting interpretations of pathogenicity
(Feb 19, 2018)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr10:97413139
GRCh38:
Chr10:95653382
ALDH18A1not provided, ALDH18A1-related de Barsy syndromeUncertain significance
(Mar 8, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr10:97396916
GRCh38:
Chr10:95637159
ALDH18A1Hereditary spastic paraplegia, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
de Barsy syndrome, not provided, ALDH18A1-related de Barsy syndrome
Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr10:97388216
GRCh38:
Chr10:95628459
ALDH18A1A281V, A170V, A279V, A69V, A168V, A246VALDH18A1-related de Barsy syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr10:97388111
GRCh38:
Chr10:95628354
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr10:97387350
GRCh38:
Chr10:95627593
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Mar 22, 2022)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr10:97386529
GRCh38:
Chr10:95626772
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr10:97386497
GRCh38:
Chr10:95626740
ALDH18A1S372Y, S261Y, S370Y, S160Y, S259Y, S337YHereditary spastic paraplegia 9A, Autosomal recessive complex spastic paraplegia type 9B, ALDH18A1-related de Barsy syndrome,
Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia 9A, de Barsy syndrome,
Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia, not specified,
ALDH18A1-related de Barsy syndrome		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:97385225
GRCh38:
Chr10:95625468
ALDH18A1Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3, de Barsy syndrome,
not provided, ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Sep 30, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr10:97380947
GRCh38:
Chr10:95621190
ALDH18A1Hereditary spastic paraplegia, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
de Barsy syndrome, not provided, ALDH18A1-related de Barsy syndrome
Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr10:97380926
GRCh38:
Chr10:95621169
ALDH18A1Hereditary spastic paraplegia 9A, Autosomal recessive complex spastic paraplegia type 9B, ALDH18A1-related de Barsy syndrome,
Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia 9A, de Barsy syndrome,
Cutis laxa, autosomal dominant 3, not provided, ALDH18A1-related de Barsy syndrome,
Hereditary spastic paraplegia		Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr10:97380870
GRCh38:
Chr10:95621113
ALDH18A1K462R, K250R, K427R, K349R, K351R, K460RHereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
ALDH18A1-related de Barsy syndrome		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:97376243
GRCh38:
Chr10:95616486
ALDH18A1not provided, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
de Barsy syndrome, ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Sep 16, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr10:97376229
GRCh38:
Chr10:95616472
ALDH18A1not provided, ALDH18A1-related de Barsy syndromeUncertain significance
(Mar 28, 2019)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:97373784
GRCh38:
Chr10:95614027
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Jun 3, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr10:97373754
GRCh38:
Chr10:95613997
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
not specified, Hereditary spastic paraplegia, ALDH18A1-related de Barsy syndrome
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:97371146
GRCh38:
Chr10:95611389
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
not specified, Hereditary spastic paraplegia, ALDH18A1-related de Barsy syndrome
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:97371122
GRCh38:
Chr10:95611365
ALDH18A1Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3, de Barsy syndrome,
not provided, ALDH18A1-related de Barsy syndrome		Benign
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr10:97371025
GRCh38:
Chr10:95611268
ALDH18A1V700I, V589I, V587I, V698I, V488I, V665IALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3,
de Barsy syndrome, not provided		Uncertain significance
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr10:97371000
GRCh38:
Chr10:95611243
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
not specified, ALDH18A1-related de Barsy syndrome		Conflicting interpretations of pathogenicity
(Oct 29, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr10:97369966
GRCh38:
Chr10:95610209
ALDH18A1R732C, R520C, R697C, R621C, R730C, R619Cnot provided, ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:97366703
GRCh38:
Chr10:95606946
ALDH18A1Hereditary spastic paraplegia 9A, de Barsy syndrome, Cutis laxa, autosomal dominant 3,
Hereditary spastic paraplegia, ALDH18A1-related de Barsy syndrome, not specified,
not provided		Benign/Likely benign
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr10:97366463
GRCh38:
Chr10:95606706
ALDH18A1not provided, ALDH18A1-related de Barsy syndromeBenign/Likely benign
(Aug 14, 2018)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:97366379
GRCh38:
Chr10:95606622
ALDH18A1Hereditary spastic paraplegia, ALDH18A1-related de Barsy syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr10:97366364
GRCh38:
Chr10:95606607
ALDH18A1not provided, ALDH18A1-related de Barsy syndromeBenign
(Jun 23, 2018)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:97366317
GRCh38:
Chr10:95606560
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr10:97366292
GRCh38:
Chr10:95606535
ALDH18A1ALDH18A1-related de Barsy syndromeBenign
(Jan 12, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr10:97366227
GRCh38:
Chr10:95606470
ALDH18A1not provided, ALDH18A1-related de Barsy syndromeLikely benign
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr10:97366107
GRCh38:
Chr10:95606350
ALDH18A1ALDH18A1-related de Barsy syndromeBenign
(Jan 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr10:97366053
GRCh38:
Chr10:95606296
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr10:97365821
GRCh38:
Chr10:95606064
ALDH18A1ALDH18A1-related de Barsy syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr10:97365820
GRCh38:
Chr10:95606063
ALDH18A1ALDH18A1-related de Barsy syndromeBenign
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr10:97365785
GRCh38:
Chr10:95606028
ALDH18A1ALDH18A1-related de Barsy syndromeLikely benign
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr10:97388162
GRCh38:
Chr10:95628405
ALDH18A1T299I, T186I, T188I, T297I, T87I, T264ICutis laxa, autosomal dominant 3, Autosomal recessive complex spastic paraplegia type 9B, Hereditary spastic paraplegia 9A,
ALDH18A1-related de Barsy syndrome, not specified, Cutis laxa, autosomal dominant 3,
de Barsy syndrome, Hereditary spastic paraplegia 9A		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr10:97397227
GRCh38:
Chr10:95637470
ALDH18A1Cutis laxa, autosomal dominant 3, Hereditary spastic paraplegia 9A, Autosomal recessive complex spastic paraplegia type 9B,
not specified, ALDH18A1-related de Barsy syndrome, not provided
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr10:97369939
GRCh38:
Chr10:95610182
ALDH18A1Cutis laxa, autosomal dominant 3, Autosomal recessive complex spastic paraplegia type 9B, Hereditary spastic paraplegia 9A,
ALDH18A1-related de Barsy syndrome, not specified, Cutis laxa, autosomal dominant 3,
de Barsy syndrome, Hereditary spastic paraplegia 9A		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr10:97387248
GRCh38:
Chr10:95627491
ALDH18A1ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3, de Barsy syndrome,
Hereditary spastic paraplegia 9A, Hereditary spastic paraplegia, not specified
Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:97366562
GRCh38:
Chr10:95606805
ALDH18A1Y780C, Y782C, Y671C, Y747C, Y669C, Y570Cnot providedUncertain significance
(May 26, 2023)		criteria provided, single submitter
89.
GRCh37:
Chr10:97397084
GRCh38:
Chr10:95637327
ALDH18A1R138L, R27LALDH18A1-related de Barsy syndromePathogeniccriteria provided, single submitter
90.
GRCh37:
Chr10:97366613
GRCh38:
Chr10:95606856
ALDH18A1R765Q, R553Q, R763Q, R652Q, R654Q, R730QAbnormality of the nervous system, ALDH18A1-related de Barsy syndromePathogenic/Likely pathogenic
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:97370029
GRCh38:
Chr10:95610272
ALDH18A1L676fs, L709fs, L711fs, L499fs, L600fs, L598fsALDH18A1-related de Barsy syndromePathogenic
(Aug 1, 2014)		no assertion criteria provided
92.
GRCh37:
Chr10:97373498
GRCh38:
Chr10:95613741
ALDH18A1ALDH18A1-related de Barsy syndromePathogenic
(Aug 1, 2011)		no assertion criteria provided
93.
GRCh37:
Chr10:97366557
GRCh38:
Chr10:95606800
ALDH18A1H784Y, H671Y, H572Y, H673Y, H749Y, H782YALDH18A1-related de Barsy syndromePathogenic
(Oct 1, 2008)		no assertion criteria provided
94.
GRCh37:
Chr10:97402801
GRCh38:
Chr10:95643044
ALDH18A1R84Qnot providedConflicting interpretations of pathogenicity
(Sep 2, 2022)		criteria provided, conflicting interpretations
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