ClinVar Miner

Variants with conflicting interpretations studied for Multiple endocrine neoplasia

Coded as:
Minimum review status of the submission for Multiple endocrine neoplasia: Y axis collection method of the submission for Multiple endocrine neoplasia:
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
39 94 4 26 22 2 4 45

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 pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor
uncertain significance 0 1 1 11 3 0 0
likely benign 3 1 11 0 25 1 1
benign 0 0 2 4 3 0 1

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
not specified 0 9 0 21 4 0 0 25
Hereditary cancer-predisposing syndrome 0 18 0 10 13 0 0 23
Multiple endocrine neoplasia, type 2 0 10 0 13 7 0 0 20
not provided 0 3 4 12 7 0 0 20
Multiple endocrine neoplasia, type 2a 0 7 0 3 8 0 2 11
Multiple endocrine neoplasia, type 1 0 3 0 3 3 0 1 6
Multiple endocrine neoplasia, type 4 0 6 0 2 2 0 2 6
Multiple endocrine neoplasia, type 2b 0 4 0 2 3 0 1 5
Hirschsprung disease 0 0 0 2 1 0 1 4
Multiple endocrine neoplasia 175 0 0 3 0 0 0 3
Pheochromocytoma 0 88 0 2 0 0 1 3
Familial medullary thyroid carcinoma 0 0 0 1 0 0 1 2
Hirschsprung Disease, Dominant 0 89 0 2 0 0 0 2
Primary hyperparathyroidism 0 0 0 0 1 0 1 2
Renal adysplasia 0 89 0 2 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 0 0 1 0 0 1
Familial cancer of breast 0 0 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
Medullary thyroid carcinoma 0 0 0 0 0 0 1 1
Somatotroph adenoma 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_004064.4(CDKN1B):c.-29_-26delAGAG rs774454456
NM_004064.4(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529
NM_004064.4(CDKN1B):c.373T>A (p.Ser125Thr) rs765681672
NM_004064.4(CDKN1B):c.397C>A (p.Pro133Thr) rs137985549
NM_004064.4(CDKN1B):c.407A>G (p.Asp136Gly) rs546234840
NM_004064.4(CDKN1B):c.426G>A (p.Thr142=) rs149775942
NM_004064.4(CDKN1B):c.475+10C>T rs36101844
NM_004064.4(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399
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.166C>A (p.Leu56Met) rs145633958
NM_020975.4(RET):c.1760-12G>A rs377767392
NM_020975.4(RET):c.1879+14G>A rs532810255
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.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_020975.6(RET):c.375C>A (p.Val125=) rs1800859
NM_130799.2(MEN1):c.*470A>G rs778272737
NM_130799.2(MEN1):c.-35A>C rs679946
NM_130799.2(MEN1):c.-35A>T rs679946
NM_130799.2(MEN1):c.1296G>A (p.Leu432=) rs138770431
NM_130799.2(MEN1):c.1764G>A (p.Lys588=) rs373669288
NM_130799.2(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_130799.2(MEN1):c.774G>C (p.Gln258His) rs374659656

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