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Items: 58

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesPathogenic
(Mar 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr2:96919623-96919636
GRCh38:
Chr2:96253885-96253898
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
3.
GRCh37:
Chr2:96919642
GRCh38:
Chr2:96253904
TMEM127not specified, Hereditary cancer-predisposing syndromeGO-ESP:0.13871(T)
GMAF:0.13940(T)
Benign
(Nov 18, 2014)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr2:96919644
GRCh38:
Chr2:96253906
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Mar 1, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr2:96919698
GRCh38:
Chr2:96253960
TMEM127Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndromeGMAF:0.00060(A)Likely benign
(Feb 24, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr2:96919729
GRCh38:
Chr2:96253991
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesGMAF:0.00200(A)Benign
(Dec 22, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr2:96919769
GRCh38:
Chr2:96254031
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Feb 24, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:96919788
GRCh38:
Chr2:96254050
TMEM127Pheochromocytoma, Pheochromocytoma, susceptibility to, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic, risk factor
(Jun 20, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr2:96919816
GRCh38:
Chr2:96254078
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
10.
GRCh37:
Chr2:96919844
GRCh38:
Chr2:96254106
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
11.
GRCh37:
Chr2:96919845
GRCh38:
Chr2:96254107
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
12.
GRCh37:
Chr2:96919855
GRCh38:
Chr2:96254117
TMEM127Pheochromocytoma, Pheochromocytoma, susceptibility toLikely pathogenic, risk factor
(Mar 1, 2010)
no assertion criteria provided
13.
GRCh37:
Chr2:96920564
GRCh38:
Chr2:96254826
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesGMAF:0.00220(A)Benign
(Mar 24, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr2:96920570
GRCh38:
Chr2:96254832
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
15.
GRCh37:
Chr2:96920582
GRCh38:
Chr2:96254844
TMEM127Hereditary cancer-predisposing syndromeUncertain significance
(Dec 3, 2013)
criteria provided, single submitter
16.
GRCh37:
Chr2:96920586
GRCh38:
Chr2:96254848
TMEM127Hereditary cancer-predisposing syndromeUncertain significance
(Nov 6, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr2:96920656
GRCh38:
Chr2:96254918
TMEM127Hereditary cancer-predisposing syndromeLikely benign
(Dec 4, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr2:96920672
GRCh38:
Chr2:96254934
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesLikely pathogenic
(Apr 7, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr2:96920688
GRCh38:
Chr2:96254950
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Dec 23, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr2:96920691
GRCh38:
Chr2:96254953
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesUncertain significance
(Dec 28, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr2:96920692
GRCh38:
Chr2:96254954
TMEM127Hereditary cancer-predisposing syndromeLikely benign
(Dec 17, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr2:96920700
GRCh38:
Chr2:96254962
TMEM127Pheochromocytoma, Hereditary Paraganglioma-Pheochromocytoma SyndromesConflicting interpretations of pathogenicity
(Nov 25, 2015)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr2:96920712
GRCh38:
Chr2:96254974
TMEM127Pheochromocytoma, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndrome
GMAF:0.00180(T)Conflicting interpretations of pathogenicity
(Feb 23, 2016)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr2:96920712-96920715
GRCh38:
Chr2:96254974-96254977
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
25.
GRCh37:
Chr2:96920714
GRCh38:
Chr2:96254976
TMEM127Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jan 20, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr2:96920727
GRCh38:
Chr2:96254989
TMEM127Hereditary cancer-predisposing syndromeUncertain significance
(Oct 16, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr2:96920732
GRCh38:
Chr2:96254994
TMEM127Hereditary cancer-predisposing syndromePathogenic
(Jan 29, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr2:96920736
GRCh38:
Chr2:96254998
TMEM127Pheochromocytoma, Pheochromocytoma, susceptibility toLikely pathogenic, risk factor
(Mar 1, 2010)
no assertion criteria provided
29.
GRCh37:
Chr2:96930903
GRCh38:
Chr2:96265165
TMEM127PheochromocytomaGO-ESP:0.00015(G)Conflicting interpretations of pathogenicity
(Jun 1, 2014)
no assertion criteria provided
30.
GRCh37:
Chr2:96930912
GRCh38:
Chr2:96265174
TMEM127PheochromocytomaGO-ESP:0.00054(T)
GMAF:0.00100(T)
Likely pathogenicno assertion criteria provided
31.
GRCh37:
Chr2:96930962
GRCh38:
Chr2:96265224
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
32.
GRCh37:
Chr2:96930971
GRCh38:
Chr2:96265233
TMEM127Pheochromocytoma, Pheochromocytoma, susceptibility toLikely pathogenic, risk factor
(Mar 1, 2010)
no assertion criteria provided
33.
GRCh37:
Chr2:96931001-96931004
GRCh38:
Chr2:96265263-96265266
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
34.
GRCh37:
Chr2:96931044
GRCh38:
Chr2:96265306
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
35.
GRCh37:
Chr2:96931067
GRCh38:
Chr2:96265329
TMEM127Hereditary Paraganglioma-Pheochromocytoma SyndromesGMAF:0.00160(A)Uncertain significance
(Mar 7, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr2:96931107
GRCh38:
Chr2:96265369
TMEM127Hereditary cancer-predisposing syndromeUncertain significance
(Jul 24, 2014)
criteria provided, single submitter
37.
GRCh37:
Chr2:96931117
GRCh38:
Chr2:96265379
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
38.
GRCh37:
Chr2:96931137
GRCh38:
Chr2:96265399
TMEM127PheochromocytomaLikely pathogenicno assertion criteria provided
39.
GRCh37:
Chr2:96545350-97695409
GRCh38:
Chr2:95879602-97029672
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
40.
GRCh37:
Chr2:96766564-98013954
GRCh38:
Chr2:96100816-97285797
See casesUncertain significance
(Sep 21, 2012)
no assertion criteria provided
41.
GRCh37:
Chr2:96739308-98066294
GRCh38:
Chr2:96073560-97513144
See casesPathogenic
(Oct 24, 2012)
no assertion criteria provided
42.
GRCh37:
Chr2:96732519-98079569
GRCh38:
Chr2:96066771-97285797
See casesUncertain significance
(Oct 22, 2013)
no assertion criteria provided
43.
GRCh37:
Chr2:95344257-111359986
GRCh38:
Chr2:94678532-110602409
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
44.
GRCh37:
Chr2:96003206-99689416
GRCh38:
Chr2:95337458-99072953
See casesUncertain significance
(Dec 16, 2011)
no assertion criteria provided
45.
GRCh37:
Chr2:96432289-98206206
GRCh38:
Chr2:95766541-97589743
See casesUncertain significance
(Sep 30, 2011)
no assertion criteria provided
46.
GRCh37:
Chr2:96766560-97820572
GRCh38:
Chr2:96100812-97154835
See casesUncertain significance
(Oct 19, 2010)
no assertion criteria provided
47.
GRCh37:
Chr2:96739308-97728447
GRCh38:
Chr2:96073560-97062710
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
48.
GRCh37:
Chr2:96545350-97695409
GRCh38:
Chr2:95879602-97029672
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
49.
GRCh37:
Chr2:96159216-97643347
GRCh38:
Chr2:95493468-96977610
See casesUncertain significance
(Dec 30, 2009)
no assertion criteria provided
50.
GRCh37:
Chr2:96766360-98014007
GRCh38:
Chr2:96100612-97285797
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
51.
GRCh37:
Chr2:96582282-97690078
GRCh38:
Chr2:95916534-97024341
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
52.
GRCh37:
Chr2:96546416-97797383
GRCh38:
Chr2:95880668-97131646
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
53.
GRCh37:
Chr2:96476201-97690078
GRCh38:
Chr2:95810453-97024341
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
54.
GRCh37:
Chr2:96472013-98013866
GRCh38:
Chr2:95806265-97285797
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
55.
GRCh37:
Chr2:95618109-103868854
GRCh38:
Chr2:94817406-103252396
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr2:91617683-102951316
GRCh38:
Chr2:91443218-102334856
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
57.
GRCh37:
Chr2:96545350-98013866
GRCh38:
Chr2:95879602-97285797
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
58.
GRCh37:
Chr2:96766560-98013866
GRCh38:
Chr2:96100812-97285797
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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