ClinVar Miner

Variants with conflicting interpretations studied for Pheochromocytoma

Coded as:
Minimum review status of the submission for Pheochromocytoma: Y axis collection method of the submission for Pheochromocytoma:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
214 248 3 93 38 7 10 134

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Pheochromocytoma pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor
pathogenic 3 9 3 1 1 0 1
likely pathogenic 4 0 4 3 2 0 4
uncertain significance 0 0 0 19 7 0 0
likely benign 2 3 15 0 78 1 1
benign 0 0 0 4 0 0 0

Condition to condition summary #

Total conditions: 38
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 28 0 59 11 0 2 71
Hereditary cancer-predisposing syndrome 0 48 0 40 16 0 4 60
not provided 0 23 0 31 11 0 3 41
Charcot-Marie-Tooth disease, type 2 0 129 0 17 4 0 0 21
Multiple endocrine neoplasia, type 2 0 15 0 13 7 0 1 20
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 9 3 8 3 0 5 17
Mitochondrial complex II deficiency; Paragangliomas 5 0 5 0 13 2 0 0 15
Multiple endocrine neoplasia, type 2a 0 8 0 8 8 0 2 15
Multiple endocrine neoplasia, type 2b 0 3 0 7 3 0 1 9
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 0 8 0 6 0 0 0 6
Medullary thyroid carcinoma 0 0 0 5 0 0 1 5
Multiple endocrine neoplasia, type 1 0 0 0 5 0 0 1 5
Multiple endocrine neoplasia, type 4 0 0 0 5 0 0 1 5
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 0 6 0 3 1 0 0 4
Pheochromocytoma 588 4 0 1 0 0 3 4
Pheochromocytoma, susceptibility to 0 0 0 0 0 4 0 4
Hirschsprung disease 0 0 0 2 1 0 1 3
Multiple endocrine neoplasia 0 88 0 2 0 0 1 3
Cowden syndrome 0 2 0 0 2 0 0 2
Familial medullary thyroid carcinoma 0 1 0 1 0 0 1 2
Paragangliomas 1 0 5 0 2 0 0 0 2
Paragangliomas 4 0 4 0 2 1 0 0 2
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 0 0 1 0 0 1
Carcinoid tumor of intestine 0 0 0 0 1 0 0 1
Cowden syndrome 3 0 0 0 0 1 0 0 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 4 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 0 1 1
Hirschsprung Disease, Dominant 0 90 0 0 0 0 1 1
Hirschsprung disease 1 0 0 0 0 0 1 0 1
Hirschsprung disease, protection against 0 0 0 0 0 1 0 1
Neoplasm 0 0 0 1 0 0 0 1
Neoplasm of the thyroid gland 0 1 0 1 0 0 0 1
Neuroblastoma 1 0 0 0 0 0 1 0 1
Paragangliomas 3 0 1 0 1 0 0 0 1
Paragangliomas 5 0 2 0 1 0 0 0 1
Renal adysplasia 0 90 0 0 0 0 1 1
Renal cell carcinoma, papillary, 1 0 0 0 1 0 0 0 1
Von Hippel-Lindau syndrome 0 4 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 134
Download table as spreadsheet
HGVS dbSNP
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_002382.4(MAX):c.37-15dupT rs747340873
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) rs34916635
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.24C>T (p.Ser8=) rs148738139
NM_003000.2(SDHB):c.300T>C (p.Ser100=) rs11541235
NM_003000.2(SDHB):c.424-16_424-14dupTTC rs34261028
NM_003000.2(SDHB):c.424-19_424-14delTTCTTC rs34261028
NM_003000.2(SDHB):c.424-19_424-14dupTTCTTC rs34261028
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003001.3(SDHC):c.*78G>A rs182629842
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003001.3(SDHC):c.120G>A (p.Arg40=) rs36097930
NM_003001.3(SDHC):c.21-10dupT rs759481419
NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.3(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.3(SDHD):c.204C>T (p.Ser68=) rs9919552
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.3(SDHD):c.312C>T (p.His104=) rs61734352
NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003002.3(SDHD):c.53C>T (p.Ala18Val) rs192332761
NM_004168.3(SDHA):c.-4A>G rs377134185
NM_004168.3(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.3(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.3(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.3(SDHA):c.133G>A (p.Ala45Thr) rs140736646
NM_004168.3(SDHA):c.163T>C (p.Tyr55His) rs142926807
NM_004168.3(SDHA):c.1664-8G>A rs199790689
NM_004168.3(SDHA):c.1776T>C (p.His592=) rs1126538
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004168.3(SDHA):c.1908+15C>T rs34504623
NM_004168.3(SDHA):c.1909-12_1909-11delCT rs372662724
NM_004168.3(SDHA):c.1911C>T (p.Val637=) rs11557098
NM_004168.3(SDHA):c.441C>T (p.Pro147=) rs201453889
NM_004168.3(SDHA):c.549C>T (p.Gly183=) rs61733344
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004168.3(SDHA):c.723C>T (p.Asp241=) rs146653693
NM_004168.3(SDHA):c.771-11A>G rs2288461
NM_004168.3(SDHA):c.822C>T (p.Gly274=) rs34771391
NM_004168.3(SDHA):c.891T>C (p.Pro297=) rs1126417
NM_004168.3(SDHA):c.969C>T (p.Gly323=) rs142849100
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.184-6_184-5delTT rs138324955
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2455A>C (p.Ser819Arg) rs140015591
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) rs145846362
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) rs150831576
NM_015074.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_015074.3(KIF1B):c.3121+9A>G rs149566646
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) rs147318592
NM_015074.3(KIF1B):c.363+6A>C rs114084418
NM_015074.3(KIF1B):c.3726+6A>C rs114266141
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) rs121908164
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) rs77172218
NM_015074.3(KIF1B):c.4808+9C>T rs72867431
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) rs143669846
NM_015074.3(KIF1B):c.5100C>T (p.Asn1700=) rs146436697
NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) rs75413741
NM_015074.3(KIF1B):c.5163C>A (p.Thr1721=) rs11121552
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015074.3(KIF1B):c.608+8dupA rs139613776
NM_017841.2(SDHAF2):c.*12C>T rs113652589
NM_017841.2(SDHAF2):c.36+10G>A rs114207859
NM_017841.2(SDHAF2):c.63A>G (p.Leu21=) rs191513932
NM_017841.2(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876
NM_017849.3(TMEM127):c.117_120delGTCT (p.Ile41Argfs) rs121908816
NM_017849.3(TMEM127):c.149_150insA (p.Pro51Alafs) rs121908817
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.265_268delACAG (p.Thr89Cysfs) rs121908822
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.3(TMEM127):c.394G>A (p.Ala132Thr) rs750870974
NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.409+7C>T rs189327749
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.3(TMEM127):c.53C>T (p.Pro18Leu) rs377740271
NM_017849.3(TMEM127):c.565C>T (p.Leu189=) rs146965678
NM_020630.4(RET):c.200G>A (p.Arg67His) rs192489011
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.4(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.4(RET):c.1264-5C>T rs9282835
NM_020975.4(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.4(RET):c.1760-12G>A rs377767392
NM_020975.4(RET):c.1879+14G>A rs532810255
NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.4(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.4(RET):c.2037C>T (p.Pro679=) rs55862116
NM_020975.4(RET):c.2052G>A (p.Pro684=) rs145122337
NM_020975.4(RET):c.2070C>T (p.Ser690=) rs201550433
NM_020975.4(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.4(RET):c.2088G>A (p.Ser696=) rs150329150
NM_020975.4(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.4(RET):c.2712C>G (p.Ser904=) rs1800863
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.4(RET):c.2976G>A (p.Pro992=) rs528823385
NM_020975.4(RET):c.2988G>A (p.Pro996=) rs145798106
NM_020975.4(RET):c.337+12G>A rs200468424
NM_020975.4(RET):c.337+9G>A rs2435351
NM_020975.4(RET):c.432C>T (p.Arg144=) rs756999107
NM_020975.4(RET):c.597C>T (p.Asn199=) rs55810667
NM_020975.4(RET):c.654G>A (p.Pro218=) rs137928436
NM_020975.4(RET):c.693C>T (p.Arg231=) rs576806329
NM_020975.4(RET):c.957C>A (p.Leu319=) rs149926238
NM_020975.5(RET):c.*1969T>C rs3026785
NM_020975.5(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859

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