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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:91617683-102951316
GRCh38:
Chr2:91443218-102334856
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059145
2.
GRCh37:
Chr2:95344257-111359986
GRCh38:
Chr2:94678532-110602409
REV1, RFX8, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RGPD6, RNF149, RPL31, SEMA4C, SEPTIN10, SH3RF3, SH3RF3-AS1, SLC5A7, SLC9A2, SLC9A4, SNORA112, SNORD89, SNRNP200, SOWAHC, ST6GAL2, STARD7, STARD7-AS1, SULT1C2, SULT1C3, SULT1C4, TBC1D8, TBC1D8-AS1, TEKT4, TGFBRAP1, TMEM127, TMEM131, TMEM182, TRIM43, TRIM43B, TSGA10, TXNDC9, UNC50, UXS1, VWA3B, ZAP70, ZNF2, ZNF514, ACTR1B, ADRA2B, AFF3, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ARID5A, ASTL, C2orf15, C2orf49, C2orf49-DT, C2orf92, CCDC138, CD8B2, CHST10, CIAO1, CNGA3, CNNM3, CNNM3-DT, CNNM4, CNOT11, COA5, COX5B, CRACDL, CREG2, DUSP2, ECRG4, EDAR, EIF5B, FAHD2A, FAHD2B, FAM178B, FAM95A, FER1L5, FHL2, FRA2A, GACAT1, GCC2, GCC2-AS1, GPAT2, GPR45, IL18R1, IL18RAP, IL1R1, IL1R2, IL1RL1, IL1RL2, INPP4A, ITPRIPL1, KANSL3, KCNIP3, LIMS1, LIMS1-AS1, LIMS3, LIMS3-LOC440895, LIMS4, LINC00342, LINC01102, LINC01103, LINC01104, LINC01106, LINC01114, LINC01123, LINC01127, LINC01159, LINC01593, LINC01594, LINC01789, LINC01796, LINC01831, LINC01849, LINC01885, LINC01886, LINC01918, LINC01935, LINC02611, LINC02946, LIPT1, LMAN2L, LOC100287010, LOC100506076, LOC100506123, LOC101927053, LOC105373496, LOC107305683, LOC107305684, LOC107305685, LOC107305686, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC110121224, LOC110121226, LOC111721715, LOC111828510, LOC112695110, LOC112695111, LOC112695112, LOC112695113, LOC112695114, LOC112695115, LOC112841606, LOC112841607, LOC112841608, LOC114004366, LOC114827847, LOC120961773, LOC120961774, LOC120961775, LOC120961776, LOC120961777, LOC120961778, LOC121725098, LOC122817709, LOC122817710, LOC122817711, LOC122817712, LOC122817713, LOC122817714, LOC122817715, LOC122817716, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC122817721, LOC122817722, LOC344065, LOC442028, LONRF2, LYG1, LYG2, MAL, MALL, MAP4K4, MFSD9, MGAT4A, MIR3127, MIR4265, MIR4266, MIR4267, MIR4436B1, MIR4436B2, MIR4772, MIR5696, MITD1, MRPL30, MRPS5, MRPS9, MRPS9-AS1, MRPS9-AS2, MTLN, NCAPH, NCK2, NEURL3, NMS, NPAS2, NPAS2-AS1, NPHP1, PANTR1, PDCL3, POU3F3, PROM2, RANBP2
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152537
3.
GRCh37:
Chr2:95618109-103868854
GRCh38:
Chr2:94817406-103252396
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059146
4.
GRCh37:
Chr2:96003206-99689416
GRCh38:
Chr2:95337458-99072953
See casesUncertain significance
(Dec 16, 2011)
no assertion criteria providedVCV000148950
5.
GRCh37:
Chr2:96159216-97643347
GRCh38:
Chr2:95493468-96977610
See casesUncertain significance
(Dec 30, 2009)
no assertion criteria providedVCV000144357
6.
GRCh37:
Chr2:96432289-98206206
GRCh38:
Chr2:95766541-97589743
See casesUncertain significance
(Sep 30, 2011)
no assertion criteria providedVCV000148751
7.
GRCh37:
Chr2:96472013-98013866
GRCh38:
Chr2:95806265-97285797
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000059308
8.
GRCh37:
Chr2:96476201-97690078
GRCh38:
Chr2:95810453-97024341
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000059309
9.
GRCh37:
Chr2:96545350-97695409
GRCh38:
Chr2:95879602-97029672
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000160960
10.
GRCh37:
Chr2:96545350-97695409
GRCh38:
Chr2:95879602-97029672
See casesPathogenic
(Aug 5, 2011)
no assertion criteria providedVCV000144712
11.
GRCh37:
Chr2:96545350-98013866
GRCh38:
Chr2:95879602-97285797
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057543
12.
GRCh37:
Chr2:96546416-97797383
GRCh38:
Chr2:95880668-97131646
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000059310
13.
GRCh37:
Chr2:96582282-97690078
GRCh38:
Chr2:95916534-97024341
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000059311
14.
GRCh38:
Chr2:96063558-97079140
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545284
15.
GRCh37:
Chr2:96732519-98079569
GRCh38:
Chr2:96066771-97285797
See casesUncertain significance
(Dec 16, 2014)
no assertion criteria providedVCV000153955
16.
GRCh37:
Chr2:96739308-98206206
GRCh38:
Chr2:96073560-97589743
See casesLikely benign
(Jan 25, 2013)
no assertion criteria providedVCV000155075
17.
GRCh37:
Chr2:96739308-98066294
GRCh38:
Chr2:96073560-97513144
See casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000154733
18.
GRCh37:
Chr2:96739308-97728447
GRCh38:
Chr2:96073560-97062710
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000146017
19.
GRCh37:
Chr2:96766560-97820572
GRCh38:
Chr2:96100812-97154835
See casesUncertain significance
(Oct 19, 2010)
no assertion criteria providedVCV000147897
20.
GRCh37:
Chr2:96766560-98013866
GRCh38:
Chr2:96100812-97285797
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057434
21.
GRCh37:
Chr2:96766564-98013954
GRCh38:
Chr2:96100816-97285797
See casesUncertain significance
(Sep 21, 2012)
no assertion criteria providedVCV000154747
22.
GRCh37:
Chr2:96915946-96931250
GRCh38:
Chr2:96250208-96265512
LOC110121224, TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesPathogenic
(Nov 23, 2016)
criteria provided, single submitterVCV000241220
23.
GRCh37:
Chr2:96915962
GRCh38:
Chr2:96250224
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000897611
24.
GRCh37:
Chr2:96915977
GRCh38:
Chr2:96250239
TMEM127PheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000337444
25.
GRCh37:
Chr2:96915978
GRCh38:
Chr2:96250240
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337445
26.
GRCh37:
Chr2:96915986
GRCh38:
Chr2:96250248
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337446
27.
GRCh37:
Chr2:96916150
GRCh38:
Chr2:96250412
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897612
28.
GRCh37:
Chr2:96916155
GRCh38:
Chr2:96250417
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897613
29.
GRCh37:
Chr2:96916198
GRCh38:
Chr2:96250460
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337447
30.
GRCh37:
Chr2:96916275
GRCh38:
Chr2:96250537
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897614
31.
GRCh37:
Chr2:96916337
GRCh38:
Chr2:96250599
TMEM127PheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000337448
32.
GRCh37:
Chr2:96916338-96916340
GRCh38:
Chr2:96250600-96250602
TMEM127PheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337449
33.
GRCh37:
Chr2:96916412
GRCh38:
Chr2:96250674
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337450
34.
GRCh37:
Chr2:96916497
GRCh38:
Chr2:96250759
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898770
35.
GRCh37:
Chr2:96916521
GRCh38:
Chr2:96250783
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337451
36.
GRCh37:
Chr2:96916580
GRCh38:
Chr2:96250842
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337452
37.
GRCh37:
Chr2:96916635
GRCh38:
Chr2:96250897
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898771
38.
GRCh37:
Chr2:96916658
GRCh38:
Chr2:96250920
TMEM127PheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337453
39.
GRCh37:
Chr2:96916671
GRCh38:
Chr2:96250933
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898772
40.
GRCh37:
Chr2:96916686
GRCh38:
Chr2:96250948
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000898773
41.
GRCh37:
Chr2:96916701
GRCh38:
Chr2:96250963
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337454
42.
GRCh37:
Chr2:96916746
GRCh38:
Chr2:96251008
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000895800
43.
GRCh37:
Chr2:96916786
GRCh38:
Chr2:96251048
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337455
44.
GRCh37:
Chr2:96916827
GRCh38:
Chr2:96251089
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337456
45.
GRCh37:
Chr2:96916829
GRCh38:
Chr2:96251091
TMEM127PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337457
46.
GRCh37:
Chr2:96916862
GRCh38:
Chr2:96251124
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895801
47.
GRCh37:
Chr2:96916904
GRCh38:
Chr2:96251166
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337458
48.
GRCh37:
Chr2:96916983
GRCh38:
Chr2:96251245
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000895802
49.
GRCh37:
Chr2:96916998
GRCh38:
Chr2:96251260
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337459
50.
GRCh37:
Chr2:96917028
GRCh38:
Chr2:96251290
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896085
51.
GRCh37:
Chr2:96917043
GRCh38:
Chr2:96251305
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337460
52.
GRCh37:
Chr2:96917048
GRCh38:
Chr2:96251310
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337461
53.
GRCh37:
Chr2:96917101
GRCh38:
Chr2:96251363
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337462
54.
GRCh37:
Chr2:96917135
GRCh38:
Chr2:96251397
TMEM127PheochromocytomaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000896086
55.
GRCh37:
Chr2:96917246
GRCh38:
Chr2:96251508
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337463
56.
GRCh37:
Chr2:96917247
GRCh38:
Chr2:96251509
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896087
57.
GRCh37:
Chr2:96917254-96917255
GRCh38:
Chr2:96251516-96251517
TMEM127PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337464
58.
GRCh37:
Chr2:96917275-96917276
GRCh38:
Chr2:96251537-96251538
TMEM127PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337465
59.
GRCh37:
Chr2:96917301
GRCh38:
Chr2:96251563
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337466
60.
GRCh37:
Chr2:96917375
GRCh38:
Chr2:96251637
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337467
61.
GRCh37:
Chr2:96917418
GRCh38:
Chr2:96251680
TMEM127PheochromocytomaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000897674
62.
GRCh37:
Chr2:96917425
GRCh38:
Chr2:96251687
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337468
63.
GRCh37:
Chr2:96917443-96917445
GRCh38:
Chr2:96251705-96251707
TMEM127PheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337469
64.
GRCh37:
Chr2:96917460
GRCh38:
Chr2:96251722
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337470
65.
GRCh37:
Chr2:96917534
GRCh38:
Chr2:96251796
TMEM127PheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000337471
66.
GRCh37:
Chr2:96917588
GRCh38:
Chr2:96251850
TMEM127PheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000337472
67.
GRCh37:
Chr2:96917659-96917660
GRCh38:
Chr2:96251921-96251922
TMEM127PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337473
68.
GRCh37:
Chr2:96917667
GRCh38:
Chr2:96251929
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897675
69.
GRCh37:
Chr2:96917697
GRCh38:
Chr2:96251959
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337474
70.
GRCh37:
Chr2:96917724
GRCh38:
Chr2:96251986
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000898839
71.
GRCh37:
Chr2:96917727
GRCh38:
Chr2:96251989
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337476
72.
GRCh37:
Chr2:96917727
GRCh38:
Chr2:96251989
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337475
73.
GRCh37:
Chr2:96917762
GRCh38:
Chr2:96252024
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337477
74.
GRCh37:
Chr2:96917774
GRCh38:
Chr2:96252036
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337478
75.
GRCh37:
Chr2:96917823
GRCh38:
Chr2:96252085
TMEM127PheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000337479
76.
GRCh37:
Chr2:96917908
GRCh38:
Chr2:96252170
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337480
77.
GRCh37:
Chr2:96917926
GRCh38:
Chr2:96252188
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337481
78.
GRCh37:
Chr2:96918041
GRCh38:
Chr2:96252303
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000895877
79.
GRCh37:
Chr2:96918140
GRCh38:
Chr2:96252402
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337482
80.
GRCh37:
Chr2:96918240
GRCh38:
Chr2:96252502
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337483
81.
GRCh37:
Chr2:96918245
GRCh38:
Chr2:96252507
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337484
82.
GRCh37:
Chr2:96918289
GRCh38:
Chr2:96252551
TMEM127PheochromocytomaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000895878
83.
GRCh37:
Chr2:96918294
GRCh38:
Chr2:96252556
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000337485
84.
GRCh37:
Chr2:96918313
GRCh38:
Chr2:96252575
TMEM127PheochromocytomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000337486
85.
GRCh37:
Chr2:96918349
GRCh38:
Chr2:96252611
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337487
86.
GRCh37:
Chr2:96918368
GRCh38:
Chr2:96252630
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337488
87.
GRCh37:
Chr2:96918383
GRCh38:
Chr2:96252645
TMEM127PheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000337489
88.
GRCh37:
Chr2:96918566
GRCh38:
Chr2:96252828
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000896151
89.
GRCh37:
Chr2:96918566
GRCh38:
Chr2:96252828
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337490
90.
GRCh37:
Chr2:96918663
GRCh38:
Chr2:96252925
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337491
91.
GRCh37:
Chr2:96918680
GRCh38:
Chr2:96252942
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000896152
92.
GRCh37:
Chr2:96918785-96918786
GRCh38:
Chr2:96253047-96253048
TMEM127PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337492
93.
GRCh37:
Chr2:96918786
GRCh38:
Chr2:96253048
TMEM127PheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337493
94.
GRCh37:
Chr2:96918871-96918872
GRCh38:
Chr2:96253133-96253134
TMEM127PheochromocytomaLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000337494
95.
GRCh37:
Chr2:96918884
GRCh38:
Chr2:96253146
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000337495
96.
GRCh37:
Chr2:96918934
GRCh38:
Chr2:96253196
TMEM127PheochromocytomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000897751
97.
GRCh37:
Chr2:96919044
GRCh38:
Chr2:96253306
TMEM127PheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000337496
98.
GRCh37:
Chr2:96919206
GRCh38:
Chr2:96253468
TMEM127PheochromocytomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000897752
99.
GRCh37:
Chr2:96919208
GRCh38:
Chr2:96253470
TMEM127PheochromocytomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000337497
100.
GRCh37:
Chr2:96919297
GRCh38:
Chr2:96253559
TMEM127PheochromocytomaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000337498
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