ClinVar Miner

Variants with conflicting interpretations studied for Multiple endocrine neoplasia, type 1

Coded as:
Minimum review status of the submission for Multiple endocrine neoplasia, type 1: Y axis collection method of the submission for Multiple endocrine neoplasia, type 1:
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
344 131 3 41 17 0 7 62

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 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 1 0 0
likely pathogenic 20 0 1 1 1
uncertain significance 2 5 1 6 4
likely benign 0 0 6 0 6
benign 0 0 7 14 2

Condition to condition summary #

Total conditions: 24
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 97 0 19 6 0 6 30
not provided 0 44 3 17 4 0 3 25
not specified 0 25 0 13 8 0 1 20
Multiple endocrine neoplasia, type 2 0 0 0 12 0 0 1 13
Multiple endocrine neoplasia, type 1 492 35 0 7 3 0 1 10
Multiple endocrine neoplasia, type 2a 0 5 0 8 0 0 1 9
Multiple endocrine neoplasia 0 3 0 3 3 0 1 6
Familial medullary thyroid carcinoma 0 0 0 5 0 0 0 5
Hyperparathyroidism 0 4 0 2 3 0 0 5
Pheochromocytoma 0 0 0 5 0 0 1 5
Multiple endocrine neoplasia, type 2b 0 11 0 2 0 0 1 3
Hirschsprung disease 0 0 0 2 0 0 1 2
Metastatic pancreatic neuroendocrine tumours 0 0 0 2 0 0 0 2
Familial cancer of breast 0 0 0 1 0 0 0 1
Hirschsprung Disease, Dominant 0 0 0 0 0 0 1 1
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border 0 0 0 1 0 0 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE 0 0 0 1 0 0 0 1
Medullary thyroid carcinoma 0 13 0 1 0 0 0 1
Multiple endocrine neoplasia IIA 0 0 0 1 0 0 0 1
Neoplasm of the thyroid gland 0 1 0 1 0 0 0 1
Primary hyperparathyroidism 0 0 0 0 1 0 0 1
Renal adysplasia 0 0 0 0 0 0 1 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: 62
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HGVS dbSNP
NM_000244.3(MEN1):c.1018C>A (p.Arg340=) rs371364206
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.670-5dupC rs772016629
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
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.1888T>C (p.Cys630Arg) rs377767404
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.2304G>C (p.Glu768Asp) rs78014899
NM_020975.4(RET):c.2410G>C (p.Val804Leu) rs79658334
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_020975.5(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.5(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_130799.2(MEN1):c.-20G>A rs386134244
NM_130799.2(MEN1):c.-22C>A rs374749001
NM_130799.2(MEN1):c.1049+9C>T rs200517349
NM_130799.2(MEN1):c.1075_1077delGAG (p.Glu359del) rs1060499971
NM_130799.2(MEN1):c.1170G>A (p.Pro390=) rs587780841
NM_130799.2(MEN1):c.1174delG (p.Glu392Serfs) rs386134247
NM_130799.2(MEN1):c.1296G>A (p.Leu432=) rs138770431
NM_130799.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_130799.2(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_130799.2(MEN1):c.1351-4C>T rs764408631
NM_130799.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288
NM_130799.2(MEN1):c.1416C>T (p.Gly472=) rs764509990
NM_130799.2(MEN1):c.1434C>T (p.Gly478=) rs200280309
NM_130799.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228
NM_130799.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_130799.2(MEN1):c.1621G>A (p.Ala541Thr) rs2959656
NM_130799.2(MEN1):c.1638G>A (p.Pro546=) rs368783097
NM_130799.2(MEN1):c.1660C>T (p.Gln554Ter) rs794728631
NM_130799.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_130799.2(MEN1):c.168delC (p.Asn57Thrfs) rs1060499990
NM_130799.2(MEN1):c.1764G>A (p.Lys588=) rs373669288
NM_130799.2(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_130799.2(MEN1):c.266_286del21 (p.Leu89_Ala95del) rs1064792906
NM_130799.2(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_130799.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_130799.2(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_130799.2(MEN1):c.467G>A (p.Gly156Asp) rs794728648
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_130799.2(MEN1):c.597C>T (p.His199=) rs150512958
NM_130799.2(MEN1):c.655-4delT rs748005956
NM_130799.2(MEN1):c.655-6C>A rs77461664
NM_130799.2(MEN1):c.655-6C>G rs77461664
NM_130799.2(MEN1):c.655-6C>T rs77461664
NM_130799.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_130799.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_130799.2(MEN1):c.774G>C (p.Gln258His) rs374659656
NM_130799.2(MEN1):c.783+1G>A rs794728652
NM_130799.2(MEN1):c.784-15_784-14delTC rs764290037
NM_130799.2(MEN1):c.825-10C>G rs999121619
NM_130799.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_130799.2(MEN1):c.912+1G>C rs398124437
NM_130799.2(MEN1):c.913-2A>G rs1114167498

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