ClinVar Miner

Variants with conflicting interpretations studied for Multiple endocrine neoplasia, type 2a

Coded as:
Minimum review status of the submission for Multiple endocrine neoplasia, type 2a: Y axis collection method of the submission for Multiple endocrine neoplasia, type 2a:
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
37 110 9 38 35 4 9 73

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
Multiple endocrine neoplasia, type 2a pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor
pathogenic 0 13 3 3 1 0 1
likely pathogenic 18 0 1 2 1 0 0
uncertain significance 4 2 7 17 8 0 2
likely benign 2 1 20 1 13 0 0
benign 0 0 3 6 2 1 1

Condition to condition summary #

Total conditions: 34
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
Multiple endocrine neoplasia, type 2 0 112 0 27 15 0 4 43
not provided 0 29 9 15 10 0 4 30
Hereditary cancer-predisposing syndrome 0 69 0 7 14 0 3 23
Multiple endocrine neoplasia, type 2a 185 16 0 11 6 0 3 19
not specified 0 42 0 7 12 0 3 18
Pheochromocytoma 0 8 0 8 8 0 2 15
Multiple endocrine neoplasia, type 2b 0 73 0 9 4 0 2 14
Hirschsprung Disease, Dominant 0 5 0 3 8 0 2 11
Multiple endocrine neoplasia 0 7 0 3 8 0 2 11
Renal adysplasia 0 5 0 3 8 0 2 11
Medullary thyroid carcinoma 0 8 0 8 0 0 2 10
Multiple endocrine neoplasia, type 1 0 5 0 8 0 0 1 9
Multiple endocrine neoplasia, type 4 0 5 0 8 0 0 1 9
Familial medullary thyroid carcinoma 0 3 0 6 1 0 1 7
Hirschsprung disease 0 4 0 4 2 0 1 6
Hirschsprung disease 1 0 0 0 0 0 2 1 3
Neoplasm of the thyroid gland 0 0 0 2 0 0 0 2
Central hypoventilation syndrome, congenital, with hirschsprung disease 0 0 0 0 0 0 1 1
Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Renal adysplasia; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 0 1 0 1 0 0 0 1
Coronary heart disease 7 0 0 0 0 0 1 0 1
Deafness, autosomal recessive 63 0 0 0 1 0 0 0 1
Elevated basal serum calcitonin 0 0 0 0 1 0 0 1
Ewing sarcoma of soft tissue 0 0 0 0 1 0 0 1
Familial cancer of breast 0 0 0 1 0 0 1 1
Hirschsprung disease, protection against 0 0 0 0 0 1 0 1
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border 0 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2B 0 0 0 1 0 0 0 1
MEN2 phenotype: Unclassified 0 0 0 1 0 0 0 1
MEN2 phenotype: Unknown 0 0 1 0 1 0 1 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE 0 0 0 1 0 0 0 1
Multiple endocrine neoplasia IIA 0 0 0 1 0 0 0 1
Neoplasm 0 1 0 1 0 0 0 1
Thyroid carcinoma 0 0 0 1 0 0 0 1
Thyroid carcinoma, sporadic medullary 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 73
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_020630.4(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020630.4(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020630.4(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_020630.4(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020630.4(RET):c.3116C>T (p.Pro1039Leu) rs79853121
NM_020630.4(RET):c.509C>T (p.Thr170Ile) rs200547906
NM_020630.4(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.4(RET):c.1063+9G>A rs765463636
NM_020975.4(RET):c.1095G>A (p.Ser365=) rs201992974
NM_020975.4(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.4(RET):c.1188G>A (p.Ser396=) rs758510657
NM_020975.4(RET):c.1197G>A (p.Pro399=) rs148371113
NM_020975.4(RET):c.1264-4C>T rs587780806
NM_020975.4(RET):c.1264-5C>T rs9282835
NM_020975.4(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.4(RET):c.1354C>A (p.Leu452Ile) rs151148041
NM_020975.4(RET):c.1437C>T (p.Ala479=) rs576806356
NM_020975.4(RET):c.1522+35C>T rs377130948
NM_020975.4(RET):c.1531G>A (p.Glu511Lys) rs201553718
NM_020975.4(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.4(RET):c.1760-12G>A rs377767392
NM_020975.4(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_020975.4(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.4(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.4(RET):c.1879+14G>A rs532810255
NM_020975.4(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.4(RET):c.1893C>T (p.Asp631=) rs55846256
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.1946C>T (p.Ser649Leu) rs148935214
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.2226G>A (p.Thr742=) rs762876946
NM_020975.4(RET):c.225G>A (p.Thr75=) rs151267865
NM_020975.4(RET):c.2284+54C>A rs566375223
NM_020975.4(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.4(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.4(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.4(RET):c.2393-9C>T rs567543719
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.4(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.4(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.4(RET):c.2607+5G>A rs143862573
NM_020975.4(RET):c.262A>G (p.Ile88Val) rs141679950
NM_020975.4(RET):c.2647_2648delGCinsTT (p.Ala883Phe) rs377767429
NM_020975.4(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.4(RET):c.2802-4G>T rs878855061
NM_020975.4(RET):c.2939+6C>T rs181245759
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.4(RET):c.2988G>A (p.Pro996=) rs145798106
NM_020975.4(RET):c.3057G>A (p.Ala1019=) rs369579749
NM_020975.4(RET):c.3112A>G (p.Thr1038Ala) rs201740483
NM_020975.4(RET):c.337+12G>A rs200468424
NM_020975.4(RET):c.693C>T (p.Arg231=) rs576806329
NM_020975.4(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.4(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020975.5(RET):c.*1969T>C rs3026785
NM_020975.5(RET):c.1013C>T (p.Thr338Ile) rs377767433
NM_020975.5(RET):c.1529C>T (p.Ala510Val) rs201745826
NM_020975.5(RET):c.1642G>A (p.Gly548Ser) rs374461212
NM_020975.5(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.5(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.5(RET):c.3188-9C>T rs551159582
NM_020975.5(RET):c.405C>T (p.Gly135=) rs142345108
NM_020975.5(RET):c.973G>A (p.Ala325Thr) rs779719517
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810

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