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Items: 1 to 100 of 306

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
CBSCYSTATHIONINE BETA-SYNTHETASE POLYMORPHISMBenign
(Nov 1, 1998)
no assertion criteria provided
2.
GRCh37:
Chr21:44473398
GRCh38:
Chr21:43053288
CBSHomocystinuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr21:44473424
GRCh38:
Chr21:43053314
CBSHomocystinuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr21:44473425
GRCh38:
Chr21:43053315
CBSHomocystinuriaBenign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr21:44473446
GRCh38:
Chr21:43053336
CBSHomocystinuriaBenign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr21:44473450
GRCh38:
Chr21:43053340
CBSHomocystinuria due to CBS deficiency, Homocystinuria, not specified,
not provided
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr21:44473518
GRCh38:
Chr21:43053408
CBSHomocystinuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr21:44473607
GRCh38:
Chr21:43053497
CBSHomocystinuriaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr21:44473691
GRCh38:
Chr21:43053581
CBSHomocystinuriaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr21:44473867
GRCh38:
Chr21:43053757
CBSHomocystinuriaBenign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr21:44473883-44473887
GRCh38:
Chr21:43053773-43053777
CBSHomocystinuriaBenign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr21:44473909
GRCh38:
Chr21:43053799
CBSHomocystinuriaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr21:44473933-44473935
GRCh38:
Chr21:43053823-43053825
CBSHomocystinuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr21:44473956
GRCh38:
Chr21:43053846
CBSnot specifiedBenign
(Dec 29, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr21:44473962
GRCh38:
Chr21:43053852
CBSnot specifiedUncertain significance
(Jan 12, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr21:44473963
GRCh38:
Chr21:43053853
CBSnot specifiedBenign
(Jun 23, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr21:44473968
GRCh38:
Chr21:43053858
CBSnot specifiedUncertain significance
(Aug 8, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr21:44473972
GRCh38:
Chr21:43053862
CBSnot specifiedBenign
(Feb 1, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr21:44473980
GRCh38:
Chr21:43053870
CBSHomocystinuria, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr21:44474002
GRCh38:
Chr21:43053892
CBSThoracic aortic aneurysm and aortic dissectionLikely benign
(Sep 6, 2012)
criteria provided, single submitter
21.
GRCh37:
Chr21:44474003
GRCh38:
Chr21:43053893
CBSHomocystinuria due to CBS deficiency, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Jun 22, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr21:44474014
GRCh38:
Chr21:43053904
CBSnot specifiedBenign
(Dec 24, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr21:44474020
GRCh38:
Chr21:43053910
CBSnot specifiedLikely benign
(Sep 30, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr21:44474030
GRCh38:
Chr21:43053920
CBSHomocystinuria, pyridoxine-responsivePathogenic
(Jan 1, 1997)
no assertion criteria provided
25.
GRCh37:
Chr21:44474053
GRCh38:
Chr21:43053943
CBSHomocystinuria due to CBS deficiencyLikely benign
(Apr 1, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr21:44474071
GRCh38:
Chr21:43053961
CBSHomocystinuria due to CBS deficiencyLikely benign
(Oct 22, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr21:44474080
GRCh38:
Chr21:43053970
CBSHomocystinuria due to CBS deficiencyLikely pathogenic
(May 14, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr21:44474083
GRCh38:
Chr21:43053973
CBSThoracic aortic aneurysm and aortic dissection, not specifiedLikely benign
(Sep 2, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr21:44474109
GRCh38:
Chr21:43053999
CBSnot specifiedLikely benign
(Jun 16, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr21:44476926
GRCh38:
Chr21:43056816
CBSnot specifiedUncertain significance
(Jan 25, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr21:44476926
GRCh38:
Chr21:43056816
CBSnot specifiedBenign
(Apr 14, 2015)
criteria provided, single submitter
32.
GRCh37:
Chr21:44476938
GRCh38:
Chr21:43056828
CBSnot specifiedUncertain significance
(Nov 20, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr21:44476939
GRCh38:
Chr21:43056829
CBSnot specifiedUncertain significance
(Nov 20, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr21:44476940
GRCh38:
Chr21:43056830
CBSHomocystinuria due to CBS deficiencyUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr21:44476941
GRCh38:
Chr21:43056831
CBSThoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 22, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr21:44476965
GRCh38:
Chr21:43056855
CBSnot specifiedLikely benign
(Jul 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr21:44476981
GRCh38:
Chr21:43056871
CBSHomocystinuria due to CBS deficiency, not specifiedUncertain significance
(Nov 11, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr21:44476986
GRCh38:
Chr21:43056876
CBSHomocystinuria due to CBS deficiency, Thoracic aortic aneurysm and aortic dissection, not specified
Conflicting interpretations of pathogenicity
(Jan 10, 2017)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr21:44476993
GRCh38:
Chr21:43056883
CBSThoracic aortic aneurysm and aortic dissection, not specifiedUncertain significance
(Mar 8, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr21:44476998
GRCh38:
Chr21:43056888
CBSHomocystinuria due to CBS deficiencyLikely pathogenic
(May 23, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr21:44478269
GRCh38:
Chr21:43058159
CBSHomocystinuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr21:44478286
GRCh38:
Chr21:43058176
CBSThoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 22, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr21:44478297
GRCh38:
Chr21:43058187
CBSHomocystinuria due to CBS deficiencyLikely benign
(Oct 31, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr21:44478311
GRCh38:
Chr21:43058201
CBSnot specifiedUncertain significance
(Sep 18, 2014)
criteria provided, single submitter
45.
GRCh37:
Chr21:44478325
GRCh38:
Chr21:43058215
CBSHYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATEDPathogenic
(Aug 1, 2008)
no assertion criteria provided
46.
GRCh37:
Chr21:44478377
GRCh38:
Chr21:43058267
CBSHomocystinuria, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr21:44478929
GRCh38:
Chr21:43058819
CBSnot specifiedLikely benigncriteria provided, single submitter
48.
GRCh37:
Chr21:44478943
GRCh38:
Chr21:43058833
CBSHomocystinuria due to CBS deficiencyLikely pathogenic
(Dec 9, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr21:44478944
GRCh38:
Chr21:43058834
CBSThoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 2, 2015)
criteria provided, single submitter
50.
GRCh37:
Chr21:44478945
GRCh38:
Chr21:43058835
CBSHomocystinuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr21:44478949
GRCh38:
Chr21:43058839
CBSnot specifiedUncertain significance
(Mar 18, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr21:44478960
GRCh38:
Chr21:43058850
CBSnot specifiedUncertain significance
(May 3, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr21:44478964
GRCh38:
Chr21:43058854
CBSHomocystinuria due to CBS deficiencyLikely benign
(Nov 6, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr21:44478970
GRCh38:
Chr21:43058860
CBSHomocystinuria due to CBS deficiencyLikely benign
(Oct 3, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr21:44478972
GRCh38:
Chr21:43058862
CBSHomocystinuria due to CBS deficiency, HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, Homocystinuria, pyridoxine-responsive,
not provided
Pathogenic
(Jul 19, 2017)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr21:44478981
GRCh38:
Chr21:43058871
CBSHomocystinuria due to CBS deficiencyLikely pathogenic
(Mar 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr21:44478986
GRCh38:
Chr21:43058876
CBSHomocystinuria due to CBS deficiencyConflicting interpretations of pathogenicity
(May 1, 2016)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr21:44479022
GRCh38:
Chr21:43058912
CBSnot providedPathogenic
(Dec 9, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr21:44479030
GRCh38:
Chr21:43058920
CBSHomocystinuria due to CBS deficiencyLikely benign
(Jan 7, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr21:44479036
GRCh38:
Chr21:43058926
CBSnot specifiedBenign
(Jun 12, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr21:44479037
GRCh38:
Chr21:43058927
CBSHYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATEDPathogenic
(Apr 1, 2000)
no assertion criteria provided
62.
GRCh37:
Chr21:44479040
GRCh38:
Chr21:43058930
CBSThoracic aortic aneurysm and aortic dissectionUncertain significance
(May 22, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr21:44479042
GRCh38:
Chr21:43058932
CBSHomocystinuria due to CBS deficiencyLikely benign
(Dec 5, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr21:44479045
GRCh38:
Chr21:43058935
CBSnot specifiedBenign/Likely benign
(Feb 17, 2015)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr21:44479080
GRCh38:
Chr21:43058970
CBSHomocystinuria due to CBS deficiency, Homocystinuria, pyridoxine-responsive, not provided
Pathogenic
(Sep 12, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr21:44479320
GRCh38:
Chr21:43059210
CBSnot specifiedLikely benign
(Jul 12, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr21:44479323
GRCh38:
Chr21:43059213
CBSnot specifiedBenign
(Feb 18, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr21:44479324
GRCh38:
Chr21:43059214
CBSnot specifiedBenign
(Jun 23, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr21:44479331
GRCh38:
Chr21:43059221
CBSnot specifiedUncertain significance
(Jun 3, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr21:44479336
GRCh38:
Chr21:43059226
CBSnot providedLikely pathogenic
(Jan 13, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr21:44479341-44479343
GRCh38:
Chr21:43059231-43059233
CBSnot specifiedUncertain significance
(Feb 18, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr21:44479341
GRCh38:
Chr21:43059231
CBSHomocystinuria due to CBS deficiencyPathogenic
(Nov 20, 2014)
criteria provided, single submitter
73.
GRCh37:
Chr21:44479351
GRCh38:
Chr21:43059241
CBSnot specifiedUncertain significance
(Aug 3, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr21:44479357-44479359
GRCh38:
Chr21:43059247-43059249
CBSHomocystinuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr21:44479398
GRCh38:
Chr21:43059288
CBSHomocystinuria, Thoracic aortic aneurysm and aortic dissection, not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr21:44479409
GRCh38:
Chr21:43059299
CBSHomocystinuria, pyridoxine-responsivePathogenic
(Jan 1, 1997)
no assertion criteria provided
77.
GRCh37:
Chr21:44479425
GRCh38:
Chr21:43059315
CBSHomocystinuriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr21:44479433
GRCh38:
Chr21:43059323
CBSnot specifiedLikely benign
(Jun 13, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr21:44480544
GRCh38:
Chr21:43060434
CBSHomocystinuria due to CBS deficiency, Homocystinuria, not specified
Benign/Likely benign
(Jan 25, 2017)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr21:44480560
GRCh38:
Chr21:43060450
CBSHomocystinuria due to CBS deficiency, not providedPathogenic/Likely pathogenic
(Aug 3, 2015)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr21:44480561
GRCh38:
Chr21:43060451
CBSnot providedPathogenic
(Jan 6, 2015)
criteria provided, single submitter
82.
GRCh37:
Chr21:44480571
GRCh38:
Chr21:43060461
CBSHomocystinuria due to CBS deficiency, not specifiedLikely benign
(Dec 6, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr21:44480582
GRCh38:
Chr21:43060472
CBSnot specifiedUncertain significance
(Jan 30, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr21:44480585
GRCh38:
Chr21:43060475
CBSHomocystinuria due to CBS deficiency, not providedPathogenic/Likely pathogenic
(Aug 5, 2016)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr21:44480587
GRCh38:
Chr21:43060477
CBSnot providedLikely pathogenic
(Feb 22, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr21:44480591
GRCh38:
Chr21:43060481
CBSHomocystinuria due to CBS deficiency, Thoracic aortic aneurysm and aortic dissection, not specified,
not provided
Conflicting interpretations of pathogenicity
(Jun 15, 2017)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr21:44480609
GRCh38:
Chr21:43060499
CBSnot providedLikely pathogenic
(Mar 1, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr21:44480616
GRCh38:
Chr21:43060506
CBSHomocystinuria, Thoracic aortic aneurysm and aortic dissection, not specified
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr21:44480624
GRCh38:
Chr21:43060514
CBSHomocystinuria due to CBS deficiency, not specified, not provided
Uncertain significance
(Jul 6, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr21:44480626
GRCh38:
Chr21:43060516
CBSHomocystinuria due to CBS deficiency, not specifiedUncertain significance
(May 3, 2017)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr21:44480637
GRCh38:
Chr21:43060527
CBSHomocystinuria due to CBS deficiency, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Jan 7, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr21:44480638
GRCh38:
Chr21:43060528
CBSHomocystinuria due to CBS deficiency, Homocystinuria, pyridoxine-nonresponsive, Thoracic aortic aneurysm and aortic dissection,
not provided
Pathogenic/Likely pathogenic
(Jul 18, 2017)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr21:44480645
GRCh38:
Chr21:43060535
CBSnot providedLikely pathogenic
(Jun 5, 2013)
criteria provided, single submitter
94.
GRCh37:
Chr21:44482402
GRCh38:
Chr21:43062292
CBSnot specifiedBenign
(Dec 26, 2013)
criteria provided, single submitter
95.
GRCh37:
Chr21:44482418
GRCh38:
Chr21:43062308
CBSnot specifiedLikely benign
(Mar 31, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr21:44482421
GRCh38:
Chr21:43062311
CBSHomocystinuria due to CBS deficiency, not providedPathogenic/Likely pathogenic
(Jun 29, 2015)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr21:44482451
GRCh38:
Chr21:43062341
CBSThoracic aortic aneurysm and aortic dissection, not specifiedUncertain significance
(Mar 7, 2017)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr21:44482451
GRCh38:
Chr21:43062341
CBSnot specifiedUncertain significance
(Nov 29, 2012)
criteria provided, single submitter
99.
GRCh37:
Chr21:44482453
GRCh38:
Chr21:43062343
CBSHomocystinuria due to CBS deficiencyLikely pathogenic
(Jul 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr21:44482454-44482455
GRCh38:
Chr21:43062344-43062345
CBSnot providedPathogenic
(Jan 17, 2017)
criteria provided, single submitter
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