ClinVar Miner

Variants with conflicting interpretations studied for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Coded as:
Minimum review status of the submission for Hereditary Paraganglioma-Pheochromocytoma Syndromes: Y axis collection method of the submission for Hereditary Paraganglioma-Pheochromocytoma Syndromes:
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
187 80 8 32 7 2 19 60

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
Hereditary Paraganglioma-Pheochromocytoma Syndromes pathogenic likely pathogenic uncertain significance likely benign risk factor
pathogenic 6 12 7 1 2
likely pathogenic 13 0 2 0 0
uncertain significance 2 6 2 4 0
likely benign 0 0 3 0 0
benign 0 2 0 9 0

Condition to condition summary #

Total conditions: 21
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
Hereditary cancer-predisposing syndrome 0 82 4 20 3 0 6 33
not provided 0 20 4 11 1 0 2 18
Pheochromocytoma 0 9 3 8 3 0 5 17
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 0 17 0 5 0 0 4 9
Paragangliomas 4 0 10 0 7 0 0 1 8
not specified 0 7 0 4 0 0 3 7
Paragangliomas 1 0 2 5 0 0 0 0 5
Hereditary Paraganglioma-Pheochromocytoma Syndromes 317 6 2 2 0 0 0 4
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 0 6 2 0 0 0 1 3
Pheochromocytoma, susceptibility to 0 1 0 0 0 2 0 2
SDHB-Related Disorders 0 0 0 2 0 0 0 2
Cowden syndrome 0 0 0 0 0 0 1 1
Gastrointestinal stroma tumor 0 1 0 1 0 0 0 1
Gastrointestinal stroma tumor; Paragangliomas 3 0 2 0 0 0 0 1 1
Mitochondrial complex II deficiency 0 0 0 0 0 0 1 1
Paraganglioma and gastric stromal sarcoma 0 2 0 1 0 0 0 1
Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma 0 3 0 1 0 0 0 1
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Mitochondrial complex II deficiency; Paragangliomas 1 0 0 1 0 0 0 0 1
Paragangliomas 1 with sensorineural hearing loss 0 0 1 0 0 0 0 1
Paragangliomas 2 0 0 1 0 0 0 0 1
Renal cell carcinoma, papillary, 1 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_002382.4(MAX):c.223C>T (p.Arg75Ter) rs387906650
NM_002382.4(MAX):c.341A>C (p.Asn114Thr) rs772912674
NM_002382.4(MAX):c.414G>A (p.Ser138=) rs559090673
NM_002382.4(MAX):c.97C>T (p.Arg33Ter) rs387906651
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.445C>T (p.Gln149Ter) rs876658451
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) rs373976827
NM_003001.3(SDHC):c.*78G>A rs182629842
NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.3(SDHC):c.405+1G>A rs587776653
NM_003002.2(SDHD):c.53dupC (p.Leu19Serfs) rs886041237
NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.3(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.3(SDHD):c.209G>A (p.Arg70Lys) rs755047928
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.298_301delACTC (p.Thr100Phefs) rs786203067
NM_003002.3(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.3(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.3(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_017841.2(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076
NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350
NM_017841.2(SDHAF2):c.36+10G>A rs114207859
NM_017841.2(SDHAF2):c.371-2A>G rs375280597
NM_017841.2(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550
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.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.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.409+7C>T rs189327749
NM_017849.3(TMEM127):c.410-2A>G rs121908826
NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) rs886039439
NM_017849.3(TMEM127):c.534C>T (p.Tyr178=) rs550833832
NM_017849.3(TMEM127):c.53C>T (p.Pro18Leu) rs377740271
NM_017849.3(TMEM127):c.565C>T (p.Leu189=) rs146965678
NM_017849.3(TMEM127):c.572C>T (p.Thr191Met) rs200327514

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