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Items: 1 to 100 of 386

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:145451329-156102366
GRCh38:
Chr1:120836007-149583533
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057409
2.
GRCh37:
Chr1:145747242-149155026
GRCh38:
Chr1:143515074-149076087
See casesPathogenic
(Feb 6, 2013)
no assertion criteria providedVCV000153061
3.
GRCh37:
Chr1:145415156-149433207
GRCh38:
Chr1:143515074-149563337
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150976
4.
GRCh37:
Chr1:145626237-149244468
GRCh38:
Chr1:143515074-149076087
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000148361
5.
GRCh37:
Chr1:145425395-149091187
GRCh38:
Chr1:143515074-149076087
See casesPathogenic
(Oct 19, 2010)
no assertion criteria providedVCV000147710
6.
GRCh37:
Chr1:145655992-149232481
GRCh38:
Chr1:143515074-149076087
See casesPathogenic
(Jan 13, 2012)
no assertion criteria providedVCV000058491
7.
GRCh37:
Chr1:1-1676126
GRCh38:
Chr1:143965076-149471555
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058089
8.
GRCh37:
Chr1:146500972-148809863
GRCh38:
Chr1:144572470-149076087
See casesLikely pathogenicno assertion criteria providedVCV000153066
9.
GRCh37:
Chr1:145415190-148809863
GRCh38:
Chr1:144572470-149076087
See casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000152031
10.
GRCh37:
Chr1:145788863-148809863
GRCh38:
Chr1:144572470-149076087
See casesPathogenic
(May 27, 2011)
no assertion criteria providedVCV000148573
11.
GRCh37:
Chr1:145799556-148867640
GRCh38:
Chr1:144572470-149076087
See casesPathogenic
(Oct 30, 2010)
no assertion criteria providedVCV000146808
12.
GRCh37:
Chr1:145764368-148752268
GRCh38:
Chr1:144572470-149076087
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059351
13.
GRCh37:
Chr1:145746912-148752268
GRCh38:
Chr1:144572470-149076087
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059349
14.
GRCh37:
Chr1:146143189-148545520
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160968
15.
GRCh37:
Chr1:145987156-148545520
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160952
16.
GRCh37:
Chr1:146143189-148545520
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160925
17.
GRCh37:
Chr1:146526310-148535229
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Sep 27, 2013)
no assertion criteria providedVCV000154737
18.
GRCh37:
Chr1:146571304-148545520
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154599
19.
GRCh37:
Chr1:145655992-148545520
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Aug 27, 2010)
no assertion criteria providedVCV000154444
20.
GRCh37:
Chr1:146507649-148545664
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000154413
21.
GRCh37:
Chr1:146500972-148535229
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Jan 25, 2013)
no assertion criteria providedVCV000149420
22.
GRCh37:
Chr1:146053414-148535229
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000148485
23.
GRCh37:
Chr1:146142989-148545676
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059366
24.
GRCh37:
Chr1:145764368-148346383
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059354
25.
GRCh37:
Chr1:145388356-148216139
GRCh38:
Chr1:145215697-148492647
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059337
26.
GRCh37:
Chr1:145451329-148309094
GRCh38:
Chr1:145215697-148534530
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058488
27.
GRCh37:
Chr1:145799543-148545520
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057209
28.
GRCh37:
Chr1:145987156-148545520
GRCh38:
Chr1:145215697-149076087
See casesPathogenic
(Sep 18, 2013)
no assertion criteria providedVCV000033116
29.
GRCh37:
Chr1:146143189-148545520
GRCh38:
Chr1:145215697-149076087
See casesPathogenic/Likely pathogenic
(Feb 14, 2018)
no assertion criteria providedVCV000032153
30.
GRCh37:
Chr1:146500972-148535229
GRCh38:
Chr1:145232830-148587578
See casesPathogenic
(Jan 14, 2013)
no assertion criteria providedVCV000149419
31.
GRCh37:
Chr1:145987156-148545520
GRCh38:
Chr1:145232830-148587578
See casesPathogenic
(Feb 14, 2018)
no assertion criteria providedVCV000144158
32.
GRCh37:
Chr1:145271815-148254822
GRCh38:
Chr1:145338382-148599763
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000146027
33.
GRCh38:
Chr1:145430995-148427734
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545143
34.
GRCh38:
Chr1:145430995-148257619
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545142
35.
GRCh37:
Chr1:145425395-147909094
GRCh38:
Chr1:145439580-148359881
See casesPathogenic
(Feb 14, 2018)
no assertion criteria providedVCV000035076
36.
GRCh38:
Chr1:145580669-149095000
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545144
37.
GRCh38:
Chr1:145601945-148889374
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545148
38.
GRCh38:
Chr1:145601946-148597425
Radial aplasia-thrombocytopenia syndromeLikely pathogenic
(Sep 16, 2019)
no assertion criteria providedVCV000692221
39.
GRCh37:
Chr1:145376675-147860552
GRCh38:
Chr1:145601946-148572213
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152673
40.
GRCh37:
Chr1:145311043-147915048
GRCh38:
Chr1:145601946-148572213
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000146009
41.
GRCh37:
Chr1:145425395-149699420
GRCh38:
Chr1:146354110-148503773
See casesPathogenic
(Aug 27, 2010)
no assertion criteria providedVCV000154442
42.
GRCh37:
Chr1:145626237-149453964
GRCh38:
Chr1:146354110-148494217
See casesPathogenic
(Jul 25, 2012)
no assertion criteria providedVCV000149746
43.
GRCh37:
Chr1:145388355-149418924
GRCh38:
Chr1:146354110-148503773
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000144787
44.
GRCh37:
Chr1:146143189-149699420
GRCh38:
Chr1:146354110-148503773
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057041
45.
GRCh37:
Chr1:145425395-149768855
GRCh38:
Chr1:146355224-148503773
See casesLikely pathogenic
(Feb 14, 2018)
no assertion criteria providedVCV000147326
46.
GRCh37:
Chr1:145899339-148782879
GRCh38:
Chr1:146355224-148494171
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000146019
47.
GRCh37:
Chr1:146105170-147929323
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155678
48.
GRCh37:
Chr1:146043713-147830830
GRCh38:
Chr1:146964168-148572213
See casesLikely pathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155579
49.
GRCh37:
Chr1:145888925-147926347
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000155545
50.
GRCh37:
Chr1:145895747-147831170
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Jul 22, 2013)
no assertion criteria providedVCV000155466
51.
GRCh37:
Chr1:145932454-147819294
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Jul 16, 2013)
no assertion criteria providedVCV000155442
52.
GRCh37:
Chr1:146145424-147929323
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Apr 9, 2013)
no assertion criteria providedVCV000155237
53.
GRCh37:
Chr1:145886339-147926347
GRCh38:
Chr1:146964168-148572213
See casesLikely pathogenic
(Sep 27, 2013)
no assertion criteria providedVCV000155061
54.
GRCh37:
Chr1:146096701-147832190
GRCh38:
Chr1:146964168-148572213
See casesLikely pathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000154049
55.
GRCh37:
Chr1:146101790-147897962
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000153748
56.
GRCh37:
Chr1:146043713-147844758
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Aug 5, 2013)
no assertion criteria providedVCV000153679
57.
GRCh37:
Chr1:146101790-147830830
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Jul 10, 2013)
no assertion criteria providedVCV000153549
58.
GRCh37:
Chr1:146053414-147860552
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152837
59.
GRCh37:
Chr1:145932455-147385641
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Sep 27, 2013)
no assertion criteria providedVCV000152341
60.
GRCh37:
Chr1:146105170-147830830
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Mar 26, 2013)
no assertion criteria providedVCV000151215
61.
GRCh37:
Chr1:146074031-147834140
GRCh38:
Chr1:146964168-148572213
See casesLikely pathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000146162
62.
GRCh37:
Chr1:146038914-147838700
GRCh38:
Chr1:146964168-148572213
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000144815
63.
GRCh37:
Chr1:145425395-146507577
GRCh38:
Chr1:146987841-148234205
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160943
64.
GRCh37:
Chr1:145425395-147909094
GRCh38:
Chr1:146987841-148436984
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160942
65.
GRCh37:
Chr1:145987156-147909094
GRCh38:
Chr1:146987841-148436984
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160926
66.
GRCh37:
Chr1:146143189-147909094
GRCh38:
Chr1:146987841-148436984
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160792
67.
GRCh37:
Chr1:145626237-147828089
GRCh38:
Chr1:146987841-148355961
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000154731
68.
GRCh37:
Chr1:145723321-147828089
GRCh38:
Chr1:146987841-148355961
See casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000149965
69.
GRCh37:
Chr1:145799556-147824212
GRCh38:
Chr1:146987841-148352084
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000149649
70.
GRCh37:
Chr1:145415156-147824212
GRCh38:
Chr1:146987841-148352084
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000149503
71.
GRCh37:
Chr1:146053414-147828089
GRCh38:
Chr1:146987841-148355961
See casesPathogenic
(Oct 9, 2012)
no assertion criteria providedVCV000148993
72.
GRCh37:
Chr1:145415190-146474275
GRCh38:
Chr1:146987841-148234205
See casesUncertain significance
(Jun 14, 2011)
no assertion criteria providedVCV000148533
73.
GRCh37:
Chr1:145804679-147828089
GRCh38:
Chr1:146987841-148355961
See casesPathogenic
(Jun 14, 2011)
no assertion criteria providedVCV000148526
74.
GRCh37:
Chr1:145655992-147828089
GRCh38:
Chr1:146987841-148355961
See casesPathogenic
(Oct 10, 2011)
no assertion criteria providedVCV000148452
75.
GRCh37:
Chr1:145987156-147909094
GRCh38:
Chr1:146987841-148359881
See casesLikely pathogenic
(Feb 14, 2018)
no assertion criteria providedVCV000146196
76.
GRCh37:
Chr1:145899359-147887713
GRCh38:
Chr1:146987841-148415560
See casesPathogenic
(Jun 30, 2010)
no assertion criteria providedVCV000144623
77.
GRCh37:
Chr1:145425195-147909235
GRCh38:
Chr1:146987841-148437125
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059873
78.
GRCh37:
Chr1:145310254-146491118
GRCh38:
Chr1:146987841-148234205
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059866
79.
GRCh37:
Chr1:144912271-147814815
GRCh38:
Chr1:146987841-149343657
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059857
80.
GRCh37:
Chr1:146083024-147916499
GRCh38:
Chr1:146987841-148444397
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059356
81.
GRCh37:
Chr1:146083023-147759798
GRCh38:
Chr1:146987841-148287692
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059355
82.
GRCh37:
Chr1:145764367-147988684
GRCh38:
Chr1:146987841-148492647
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059350
83.
GRCh37:
Chr1:146142989-147909235
GRCh38:
Chr1:146987841-148437125
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058515
84.
GRCh37:
Chr1:146142989-147909235
GRCh38:
Chr1:146987841-148437125
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058514
85.
GRCh37:
Chr1:146096433-147800872
GRCh38:
Chr1:146987841-148328747
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058513
86.
GRCh37:
Chr1:146096433-147400685
GRCh38:
Chr1:146987841-148234205
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058512
87.
GRCh37:
Chr1:146096433-147916499
GRCh38:
Chr1:146987841-148444397
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058510
88.
GRCh37:
Chr1:146083024-147800872
GRCh38:
Chr1:146987841-148328747
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058508
89.
GRCh37:
Chr1:146079197-147800872
GRCh38:
Chr1:146987841-148328747
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058506
90.
GRCh37:
Chr1:145987156-147909035
GRCh38:
Chr1:146987841-148436925
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058504
91.
GRCh37:
Chr1:145986956-147909235
GRCh38:
Chr1:146987841-148437125
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058495
92.
GRCh37:
Chr1:145987156-147411593
GRCh38:
Chr1:146987841-148234205
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057249
93.
GRCh37:
Chr1:145425395-147909094
GRCh38:
Chr1:146987841-148436984
See casesLikely pathogenic
(Feb 14, 2018)
no assertion criteria providedVCV000035044
94.
GRCh37:
Chr1:145655992-147909094
GRCh38:
Chr1:146987841-148436984
See casesPathogenic
(Feb 14, 2018)
no assertion criteria providedVCV000033940
95.
GRCh37:
Chr1:145987156-147909094
GRCh38:
Chr1:146987841-148359881
See casesPathogenic
(Aug 5, 2011)
no assertion criteria providedVCV000033743