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Items: 1 to 100 of 468

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:217277267
GRCh38:
Chr2:216412544
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000334281
2.
GRCh37:
Chr2:217277297
GRCh38:
Chr2:216412574
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000334282
3.
GRCh37:
Chr2:217277303
GRCh38:
Chr2:216412580
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334283
4.
GRCh37:
Chr2:217277326
GRCh38:
Chr2:216412603
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334284
5.
GRCh37:
Chr2:217277330
GRCh38:
Chr2:216412607
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000334285
6.
GRCh37:
Chr2:217277353
GRCh38:
Chr2:216412630
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000334286
7.
GRCh37:
Chr2:217278592
GRCh38:
Chr2:216413869
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000334287
8.
GRCh37:
Chr2:217279116
GRCh38:
Chr2:216414393
SMARCAL1not providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001287616
9.
GRCh37:
Chr2:217279160
GRCh38:
Chr2:216414437
SMARCAL1not providedBenign
(May 4, 2020)
criteria provided, single submitterVCV001259167
10.
GRCh37:
Chr2:217279380
GRCh38:
Chr2:216414657
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334288
11.
GRCh37:
Chr2:217279418-217281040
GRCh38:
Chr2:216414695-216416317
SMARCAL1Schimke immuno-osseous dysplasiaPathogenic
(Jul 30, 2019)
criteria provided, single submitterVCV000652386
12.
GRCh37:
Chr2:217279476
GRCh38:
Chr2:216414753
SMARCAL1R17*Schimke immuno-osseous dysplasiaPathogenic
(Apr 11, 2019)
criteria provided, single submitterVCV000004172
13.
GRCh37:
Chr2:217279494
GRCh38:
Chr2:216414771
SMARCAL1R23CSchimke immuno-osseous dysplasiaUncertain significance
(Jun 24, 2019)
criteria provided, single submitterVCV000951652
14.
GRCh37:
Chr2:217279495
GRCh38:
Chr2:216414772
SMARCAL1R23HSchimke immuno-osseous dysplasiaUncertain significance
(Jan 30, 2020)
criteria provided, single submitterVCV001034643
15.
GRCh37:
Chr2:217279496
GRCh38:
Chr2:216414773
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 9, 2019)
criteria provided, single submitterVCV000797322
16.
GRCh37:
Chr2:217279499
GRCh38:
Chr2:216414776
SMARCAL1Schimke immuno-osseous dysplasiaBenign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000334289
17.
GRCh37:
Chr2:217279503
GRCh38:
Chr2:216414780
SMARCAL1E26KSchimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334290
18.
GRCh37:
Chr2:217279514
GRCh38:
Chr2:216414791
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jul 27, 2020)
criteria provided, single submitterVCV001114687
19.
GRCh37:
Chr2:217279519
GRCh38:
Chr2:216414796
SMARCAL1E31GSchimke immuno-osseous dysplasiaUncertain significance
(Oct 7, 2020)
criteria provided, single submitterVCV001007534
20.
GRCh37:
Chr2:217279527
GRCh38:
Chr2:216414804
SMARCAL1Q34*Schimke immuno-osseous dysplasiaPathogenic
(Feb 1, 2002)
no assertion criteria providedVCV000004173
21.
GRCh37:
Chr2:217279535
GRCh38:
Chr2:216414812
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Aug 19, 2019)
criteria provided, single submitterVCV001149244
22.
GRCh37:
Chr2:217279536
GRCh38:
Chr2:216414813
SMARCAL1S37GSchimke immuno-osseous dysplasiaUncertain significance
(Oct 3, 2020)
criteria provided, single submitterVCV001058549
23.
GRCh37:
Chr2:217279538
GRCh38:
Chr2:216414815
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 2, 2019)
criteria provided, single submitterVCV001138465
24.
GRCh37:
Chr2:217279541
GRCh38:
Chr2:216414818
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 2, 2020)
criteria provided, single submitterVCV001122952
25.
GRCh37:
Chr2:217279541
GRCh38:
Chr2:216414818
SMARCAL1not providedUncertain significance
(Jan 19, 2017)
criteria provided, single submitterVCV000499438
26.
GRCh37:
Chr2:217279544
GRCh38:
Chr2:216414821
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 26, 2020)
criteria provided, single submitterVCV000791007
27.
GRCh37:
Chr2:217279551
GRCh38:
Chr2:216414828
SMARCAL1I42VSchimke immuno-osseous dysplasiaBenign
(Nov 11, 2020)
criteria provided, single submitterVCV001167494
28.
GRCh37:
Chr2:217279554
GRCh38:
Chr2:216414831
SMARCAL1A43Tnot specified, Schimke immuno-osseous dysplasia, not provided
Benign/Likely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000260337
29.
GRCh37:
Chr2:217279583
GRCh38:
Chr2:216414860
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 1, 2020)
criteria provided, single submitterVCV001130044
30.
GRCh37:
Chr2:217279606
GRCh38:
Chr2:216414883
SMARCAL1E60ASchimke immuno-osseous dysplasiaUncertain significance
(May 4, 2018)
criteria provided, single submitterVCV000568006
31.
GRCh37:
Chr2:217279613
GRCh38:
Chr2:216414890
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jun 23, 2020)
criteria provided, single submitterVCV001103865
32.
GRCh37:
Chr2:217279616
GRCh38:
Chr2:216414893
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 13, 2020)
criteria provided, single submitterVCV000764279
33.
GRCh37:
Chr2:217279619
GRCh38:
Chr2:216414896
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001092835
34.
GRCh37:
Chr2:217279648
GRCh38:
Chr2:216414925
SMARCAL1Q74RSchimke immuno-osseous dysplasiaUncertain significance
(May 15, 2020)
criteria provided, single submitterVCV001040727
35.
GRCh37:
Chr2:217279663
GRCh38:
Chr2:216414940
SMARCAL1S79LSchimke immuno-osseous dysplasiaUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000935216
36.
GRCh37:
Chr2:217279675-217279676
GRCh38:
Chr2:216414952-216414953
SMARCAL1Q84fsSchimke immuno-osseous dysplasiaLikely pathogenic
(Aug 4, 2018)
criteria provided, single submitterVCV000870377
37.
GRCh37:
Chr2:217279685
GRCh38:
Chr2:216414962
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 8, 2020)
criteria provided, single submitterVCV000800134
38.
GRCh37:
Chr2:217279695-217279696
GRCh38:
Chr2:216414972-216414973
SMARCAL1H90fsSchimke immuno-osseous dysplasiaPathogenic
(Dec 17, 2018)
criteria provided, single submitterVCV000642307
39.
GRCh37:
Chr2:217279697
GRCh38:
Chr2:216414974
SMARCAL1Schimke immuno-osseous dysplasiaBenign
(Jul 9, 2020)
criteria provided, single submitterVCV001169941
40.
GRCh37:
Chr2:217279706
GRCh38:
Chr2:216414983
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 23, 2020)
criteria provided, single submitterVCV001118891
41.
GRCh37:
Chr2:217279756-217279757
GRCh38:
Chr2:216415033-216415034
SMARCAL1R114fsSchimke immuno-osseous dysplasiaPathogenic
(Aug 2, 2019)
criteria provided, single submitterVCV000941165
42.
GRCh37:
Chr2:217279757
GRCh38:
Chr2:216415034
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001103256
43.
GRCh37:
Chr2:217279760
GRCh38:
Chr2:216415037
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 26, 2020)
criteria provided, single submitterVCV001162158
44.
GRCh37:
Chr2:217279767
GRCh38:
Chr2:216415044
SMARCAL1R114Gnot provided, Schimke immuno-osseous dysplasiaConflicting interpretations of pathogenicity
(Nov 7, 2020)
criteria provided, conflicting interpretationsVCV000196458
45.
GRCh37:
Chr2:217279768
GRCh38:
Chr2:216415045
SMARCAL1R114Hnot specified, not provided, Schimke immuno-osseous dysplasia
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000196456
46.
GRCh37:
Chr2:217279791
GRCh38:
Chr2:216415068
SMARCAL1I122VSchimke immuno-osseous dysplasiaUncertain significance
(Jun 27, 2019)
criteria provided, single submitterVCV000935546
47.
GRCh37:
Chr2:217279792-217279793
GRCh38:
Chr2:216415069-216415070
SMARCAL1P124fsSchimke immuno-osseous dysplasiaLikely pathogenic
(Jun 20, 2019)
criteria provided, single submitterVCV000804394
48.
GRCh37:
Chr2:217279806
GRCh38:
Chr2:216415083
SMARCAL1A127PSchimke immuno-osseous dysplasiaUncertain significance
(Jul 17, 2019)
criteria provided, single submitterVCV000969532
49.
GRCh37:
Chr2:217279809
GRCh38:
Chr2:216415086
SMARCAL1Q128ESchimke immuno-osseous dysplasiaUncertain significance
(Jun 29, 2020)
no assertion criteria providedVCV000991594
50.
GRCh37:
Chr2:217279814
GRCh38:
Chr2:216415091
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Jul 19, 2018)
criteria provided, single submitterVCV000763269
51.
GRCh37:
Chr2:217279835
GRCh38:
Chr2:216415112
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 30, 2019)
criteria provided, single submitterVCV000750145
52.
GRCh37:
Chr2:217279836
GRCh38:
Chr2:216415113
SMARCAL1Q137*Schimke immuno-osseous dysplasiaPathogenic
(Mar 18, 2020)
criteria provided, single submitterVCV001074524
53.
GRCh37:
Chr2:217279842-217279843
GRCh38:
Chr2:216415119-216415120
SMARCAL1L139fsSchimke immuno-osseous dysplasia, not providedPathogenic
(Sep 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000598612
54.
GRCh37:
Chr2:217279849
GRCh38:
Chr2:216415126
SMARCAL1Y141CSchimke immuno-osseous dysplasiaUncertain significance
(Mar 13, 2019)
criteria provided, single submitterVCV000843968
55.
GRCh37:
Chr2:217279850
GRCh38:
Chr2:216415127
SMARCAL1not specified, Schimke immuno-osseous dysplasia, not provided
Benign/Likely benign
(Jun 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000260344
56.
GRCh37:
Chr2:217279853
GRCh38:
Chr2:216415130
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Dec 18, 2018)
criteria provided, single submitterVCV000796955
57.
GRCh37:
Chr2:217279859
GRCh38:
Chr2:216415136
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 31, 2020)
criteria provided, single submitterVCV001105150
58.
GRCh37:
Chr2:217279872
GRCh38:
Chr2:216415149
SMARCAL1Q149*Schimke immuno-osseous dysplasiaPathogenic
(Oct 5, 2019)
criteria provided, single submitterVCV000967180
59.
GRCh37:
Chr2:217279875
GRCh38:
Chr2:216415152
SMARCAL1A150SSchimke immuno-osseous dysplasiaUncertain significance
(Jul 12, 2020)
criteria provided, single submitterVCV001009287
60.
GRCh37:
Chr2:217279915
GRCh38:
Chr2:216415192
SMARCAL1T163NSchimke immuno-osseous dysplasiaUncertain significance
(Oct 15, 2018)
criteria provided, single submitterVCV000640969
61.
GRCh37:
Chr2:217279926
GRCh38:
Chr2:216415203
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jun 26, 2020)
criteria provided, single submitterVCV001090945
62.
GRCh37:
Chr2:217279933
GRCh38:
Chr2:216415210
SMARCAL1K169RSchimke immuno-osseous dysplasia, not providedUncertain significance
(Oct 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000497427
63.
GRCh37:
Chr2:217279937
GRCh38:
Chr2:216415214
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 13, 2020)
criteria provided, single submitterVCV001108090
64.
GRCh37:
Chr2:217279954
GRCh38:
Chr2:216415231
SMARCAL1T176Rnot providedUncertain significance
(Sep 4, 2015)
criteria provided, single submitterVCV000282581
65.
GRCh37:
Chr2:217279959
GRCh38:
Chr2:216415236
SMARCAL1A178SSchimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897245
66.
GRCh37:
Chr2:217279973
GRCh38:
Chr2:216415250
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Dec 3, 2019)
criteria provided, single submitterVCV001137153
67.
GRCh37:
Chr2:217279976
GRCh38:
Chr2:216415253
SMARCAL1Q183HSchimke immuno-osseous dysplasiaUncertain significance
(Oct 28, 2019)
criteria provided, single submitterVCV000958538
68.
GRCh37:
Chr2:217279980
GRCh38:
Chr2:216415257
SMARCAL1P185SSchimke immuno-osseous dysplasiaUncertain significance
(Apr 12, 2020)
criteria provided, single submitterVCV001062633
69.
GRCh37:
Chr2:217279992
GRCh38:
Chr2:216415269
SMARCAL1K189ESchimke immuno-osseous dysplasiaUncertain significance
(May 3, 2018)
criteria provided, single submitterVCV000568780
70.
GRCh37:
Chr2:217280024
GRCh38:
Chr2:216415301
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Jul 21, 2020)
criteria provided, single submitterVCV000762587
71.
GRCh37:
Chr2:217280027
GRCh38:
Chr2:216415304
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000334291
72.
GRCh37:
Chr2:217280030
GRCh38:
Chr2:216415307
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 2, 2020)
criteria provided, single submitterVCV001080552
73.
GRCh37:
Chr2:217280030
GRCh38:
Chr2:216415307
SMARCAL1not specified, Schimke immuno-osseous dysplasiaBenign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000260345
74.
GRCh37:
Chr2:217280036
GRCh38:
Chr2:216415313
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Apr 9, 2019)
criteria provided, single submitterVCV001118141
75.
GRCh37:
Chr2:217280036
GRCh38:
Chr2:216415313
SMARCAL1N203fsSchimke immuno-osseous dysplasiaPathogenic
(Apr 1, 2020)
criteria provided, single submitterVCV001071628
76.
GRCh37:
Chr2:217280063
GRCh38:
Chr2:216415340
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 13, 2020)
criteria provided, single submitterVCV001154789
77.
GRCh37:
Chr2:217280067-217280068
GRCh38:
Chr2:216415344-216415345
SMARCAL1T215fsSchimke immuno-osseous dysplasiaPathogenic
(Oct 20, 2020)
criteria provided, single submitterVCV001074171
78.
GRCh37:
Chr2:217280072
GRCh38:
Chr2:216415349
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 7, 2020)
criteria provided, single submitterVCV001155653
79.
GRCh37:
Chr2:217280093
GRCh38:
Chr2:216415370
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jan 24, 2020)
criteria provided, single submitterVCV001128249
80.
GRCh37:
Chr2:217280096
GRCh38:
Chr2:216415373
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 22, 2020)
criteria provided, single submitterVCV001109643
81.
GRCh37:
Chr2:217280102
GRCh38:
Chr2:216415379
SMARCAL1not provided, Schimke immuno-osseous dysplasiaConflicting interpretations of pathogenicity
(Oct 31, 2020)
criteria provided, conflicting interpretationsVCV000196457
82.
GRCh37:
Chr2:217280104
GRCh38:
Chr2:216415381
SMARCAL1S226LSchimke immuno-osseous dysplasiaUncertain significance
(Jun 4, 2019)
criteria provided, single submitterVCV000840659
83.
GRCh37:
Chr2:217280114
GRCh38:
Chr2:216415391
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV001094220
84.
GRCh37:
Chr2:217280117
GRCh38:
Chr2:216415394
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Mar 29, 2020)
criteria provided, single submitterVCV000799435
85.
GRCh37:
Chr2:217280120
GRCh38:
Chr2:216415397
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Sep 13, 2019)
criteria provided, single submitterVCV001082968
86.
GRCh37:
Chr2:217280120
GRCh38:
Chr2:216415397
SMARCAL1Q231HSchimke immuno-osseous dysplasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897246
87.
GRCh37:
Chr2:217280144
GRCh38:
Chr2:216415421
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Oct 24, 2018)
criteria provided, single submitterVCV000793265
88.
GRCh37:
Chr2:217280147
GRCh38:
Chr2:216415424
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Mar 14, 2020)
criteria provided, single submitterVCV001105499
89.
GRCh37:
Chr2:217280150
GRCh38:
Chr2:216415427
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001126637
90.
GRCh37:
Chr2:217280150
GRCh38:
Chr2:216415427
SMARCAL1C241*Schimke immuno-osseous dysplasia, Atrioventricular septal defect, Focal segmental glomerulosclerosis,
Short stature, Disproportionate short-trunk short stature, Decreased body weight,
Steroid-resistant nephrotic syndrome, Small for gestational age, Congenital microcephaly,
Microcephaly
Pathogenic
(Jan 1, 2016)
criteria provided, single submitterVCV000374208
91.
GRCh37:
Chr2:217280151
GRCh38:
Chr2:216415428
SMARCAL1V242ISchimke immuno-osseous dysplasiaUncertain significance
(Aug 30, 2019)
criteria provided, single submitterVCV000964662
92.
GRCh37:
Chr2:217280153
GRCh38:
Chr2:216415430
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Jul 28, 2020)
criteria provided, single submitterVCV000765230
93.
GRCh37:
Chr2:217280159
GRCh38:
Chr2:216415436
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Nov 24, 2020)
criteria provided, single submitterVCV001134129
94.
GRCh37:
Chr2:217280161
GRCh38:
Chr2:216415438
SMARCAL1G245DSchimke immuno-osseous dysplasiaUncertain significance
(Nov 29, 2018)
criteria provided, single submitterVCV000650008
95.
GRCh37:
Chr2:217280162
GRCh38:
Chr2:216415439
SMARCAL1Schimke immuno-osseous dysplasiaUncertain significance
(Sep 20, 2017)
criteria provided, single submitterVCV000532003
96.
GRCh37:
Chr2:217280165
GRCh38:
Chr2:216415442
SMARCAL1not provided, Schimke immuno-osseous dysplasiaLikely benign
(Sep 28, 2018)
criteria provided, single submitterVCV000751350
97.
GRCh37:
Chr2:217280175
GRCh38:
Chr2:216415452
SMARCAL1V250LSchimke immuno-osseous dysplasiaUncertain significance
(Mar 23, 2018)
criteria provided, single submitterVCV000897247
98.
GRCh37:
Chr2:217280182
GRCh38:
Chr2:216415459
SMARCAL1I252TSchimke immuno-osseous dysplasiaUncertain significance
(Dec 24, 2018)
criteria provided, single submitterVCV001033662
99.
GRCh37:
Chr2:217280189
GRCh38:
Chr2:216415466
SMARCAL1Schimke immuno-osseous dysplasiaLikely benign
(Oct 28, 2019)
criteria provided, single submitterVCV001092192
100.
GRCh37:
Chr2:217280192
GRCh38:
Chr2:216415469
SMARCAL1not specified, Schimke immuno-osseous dysplasiaLikely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000260346
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