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Items: 1 to 100 of 215

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
ABCA1Tangier diseasePathogenic
(Jan 1, 2002)
no assertion criteria provided
2.
ABCA1Tangier diseasePathogenic
(Jul 27, 2001)
no assertion criteria provided
3.
GRCh37:
Chr9:107543284
GRCh38:
Chr9:104781003
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr9:107543317
GRCh38:
Chr9:104781036
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr9:107543342
GRCh38:
Chr9:104781061
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00080(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:107543345
GRCh38:
Chr9:104781064
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00380(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:107543376
GRCh38:
Chr9:104781095
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.01280(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr9:107543389-107543391
GRCh38:
Chr9:104781108-104781110
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr9:107543509
GRCh38:
Chr9:104781228
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:107543513
GRCh38:
Chr9:104781232
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00700(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr9:107543567
GRCh38:
Chr9:104781286
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:107543689
GRCh38:
Chr9:104781408
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:107543850
GRCh38:
Chr9:104781569
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr9:107543891
GRCh38:
Chr9:104781610
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.01080(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr9:107543943
GRCh38:
Chr9:104781662
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr9:107543985
GRCh38:
Chr9:104781704
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr9:107544110
GRCh38:
Chr9:104781829
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00060(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr9:107544150
GRCh38:
Chr9:104781869
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr9:107544187
GRCh38:
Chr9:104781906
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr9:107544285
GRCh38:
Chr9:104782004
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.17870(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr9:107544376
GRCh38:
Chr9:104782095
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr9:107544507
GRCh38:
Chr9:104782226
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00060(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr9:107544673
GRCh38:
Chr9:104782392
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00560(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr9:107544685
GRCh38:
Chr9:104782404
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.07970(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr9:107544696
GRCh38:
Chr9:104782415
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr9:107544700
GRCh38:
Chr9:104782419
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.14240(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:107544828
GRCh38:
Chr9:104782547
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr9:107544829
GRCh38:
Chr9:104782548
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:107544939
GRCh38:
Chr9:104782658
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr9:107544943
GRCh38:
Chr9:104782662
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.08210(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr9:107545010
GRCh38:
Chr9:104782729
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00060(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr9:107545022
GRCh38:
Chr9:104782741
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr9:107545120
GRCh38:
Chr9:104782839
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr9:107545129
GRCh38:
Chr9:104782848
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr9:107545130
GRCh38:
Chr9:104782849
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.45530(-)Benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr9:107545156
GRCh38:
Chr9:104782875
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.44110(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr9:107545223
GRCh38:
Chr9:104782942
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00300(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr9:107545269
GRCh38:
Chr9:104782988
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00060(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr9:107545270
GRCh38:
Chr9:104782989
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr9:107545305
GRCh38:
Chr9:104783024
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00060(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr9:107545336
GRCh38:
Chr9:104783055
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr9:107545378
GRCh38:
Chr9:104783097
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr9:107545385
GRCh38:
Chr9:104783104
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr9:107545392
GRCh38:
Chr9:104783111
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr9:107545721
GRCh38:
Chr9:104783440
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr9:107545903
GRCh38:
Chr9:104783622
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.44550(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr9:107545919
GRCh38:
Chr9:104783638
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr9:107545982
GRCh38:
Chr9:104783701
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr9:107546030
GRCh38:
Chr9:104783749
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr9:107546110
GRCh38:
Chr9:104783829
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:107546179
GRCh38:
Chr9:104783898
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr9:107546201
GRCh38:
Chr9:104783920
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.08210(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr9:107546228
GRCh38:
Chr9:104783947
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00100(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr9:107546259
GRCh38:
Chr9:104783978
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr9:107546275
GRCh38:
Chr9:104783994
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.18950(-)Benign
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr9:107546293
GRCh38:
Chr9:104784012
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr9:107546307
GRCh38:
Chr9:104784026
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr9:107546464
GRCh38:
Chr9:104784183
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr9:107546500
GRCh38:
Chr9:104784219
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00760(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr9:107546577
GRCh38:
Chr9:104784296
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(A)
GO-ESP:0.00026(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr9:107546580
GRCh38:
Chr9:104784299
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGO-ESP:0.00032(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr9:107546653
GRCh38:
Chr9:104784372
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00440(T)
GO-ESP:0.00179(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr9:107547872
GRCh38:
Chr9:104785591
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.01140(T)
GO-ESP:0.00373(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr9:107548566
GRCh38:
Chr9:104786285
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.14420(C)
GO-ESP:0.08805(C)
Benign
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr9:107549221
GRCh38:
Chr9:104786940
ABCA1Tangier diseasePathogenic
(Jul 27, 2001)
no assertion criteria provided
66.
GRCh37:
Chr9:107550221
GRCh38:
Chr9:104787940
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGO-ESP:0.00002(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr9:107550222
GRCh38:
Chr9:104787941
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.07650(A)
GO-ESP:0.03634(A)
Benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr9:107550296
GRCh38:
Chr9:104788015
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr9:107550750
GRCh38:
Chr9:104788469
ABCA1Familial hypoalphalipoproteinemiaPathogenic
(May 21, 2002)
no assertion criteria provided
70.
GRCh37:
Chr9:107553260
GRCh38:
Chr9:104790979
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr9:107554224
GRCh38:
Chr9:104791943
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr9:107554263
GRCh38:
Chr9:104791982
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00100(T)
GO-ESP:0.00267(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr9:107554274
GRCh38:
Chr9:104791993
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.03770(G)
GO-ESP:0.01163(G)
Benign
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr9:107555055
GRCh38:
Chr9:104792774
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGO-ESP:0.00002(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr9:107556776
GRCh38:
Chr9:104794495
ABCA1ABCA1-Related DisordersGO-ESP:0.00027(G)Pathogenic
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr9:107556794-107556796
GRCh38:
Chr9:104794513-104794515
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr9:107556794
GRCh38:
Chr9:104794513
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGO-ESP:0.31560(-)Benign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr9:107556794-107556797
GRCh38:
Chr9:104794513-104794516
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr9:107558340
GRCh38:
Chr9:104796059
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00040(A)
GO-ESP:0.00187(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr9:107558415
GRCh38:
Chr9:104796134
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00180(G)
GO-ESP:0.00049(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr9:107560784
GRCh38:
Chr9:104798503
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(T)
GO-ESP:0.00037(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr9:107560785
GRCh38:
Chr9:104798504
ABCA1Tangier disease, variantPathogenic
(Jan 1, 2002)
no assertion criteria provided
83.
GRCh37:
Chr9:107560789
GRCh38:
Chr9:104798508
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00180(T)
GO-ESP:0.00037(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr9:107560803
GRCh38:
Chr9:104798522
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00100(T)
GO-ESP:0.00069(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr9:107560804
GRCh38:
Chr9:104798523
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(A)
GO-ESP:0.00013(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr9:107562804
GRCh38:
Chr9:104800523
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.46170(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr9:107564328
GRCh38:
Chr9:104802047
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00400(G)
GO-ESP:0.00129(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr9:107566930
GRCh38:
Chr9:104804649
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00760(A)
GO-ESP:0.01333(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr9:107566949
GRCh38:
Chr9:104804668
ABCA1Tangier diseasePathogenic
(Jul 27, 2001)
no assertion criteria provided
90.
GRCh37:
Chr9:107568546
GRCh38:
Chr9:104806265
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.02480(A)
GO-ESP:0.00709(A)
Benign
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr9:107568557
GRCh38:
Chr9:104806276
ABCA1Tangier diseasePathogenic
(Aug 1, 1999)
no assertion criteria provided
92.
GRCh37:
Chr9:107568705
GRCh38:
Chr9:104806424
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.12980(T)
GO-ESP:0.10741(T)
Benign
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr9:107571799
GRCh38:
Chr9:104809518
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00020(A)
GO-ESP:0.00035(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr9:107571826
GRCh38:
Chr9:104809545
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.00080(A)
GO-ESP:0.00022(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr9:107573095
GRCh38:
Chr9:104810814
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGO-ESP:0.00003(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr9:107573098
GRCh38:
Chr9:104810817
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr9:107574881
GRCh38:
Chr9:104812600
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGO-ESP:0.00002(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr9:107574920
GRCh38:
Chr9:104812639
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr9:107574960
GRCh38:
Chr9:104812679
ABCA1Tangier disease, Familial High Density Lipoprotein DeficiencyGMAF:0.02600(T)
GO-ESP:0.00723(T)
Benign
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr9:107576435
GRCh38:
Chr9:104814154
ABCA1Tangier diseaseGO-ESP:0.00001(T)Pathogenic
(Jul 27, 2001)
no assertion criteria provided
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