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
369 98 3 39 12 0 11 58

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 9 1 0 0
likely pathogenic 21 0 1 1 1
uncertain significance 3 9 2 7 6
likely benign 0 0 3 0 8
benign 0 0 5 6 1

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
not provided 0 50 3 21 6 0 4 31
Hereditary cancer-predisposing syndrome 0 69 0 13 4 0 8 23
not specified 0 15 0 14 9 0 1 22
Multiple endocrine neoplasia, type 2 0 0 0 12 0 0 0 12
Multiple endocrine neoplasia, type 1 479 37 0 5 4 0 1 9
Multiple endocrine neoplasia, type 2a 0 5 0 8 0 0 1 9
Familial medullary thyroid carcinoma 0 0 0 5 0 0 0 5
Pheochromocytoma 0 0 0 5 0 0 1 5
Multiple endocrine neoplasia 0 4 0 3 1 0 1 4
Hyperparathyroidism 0 5 0 3 1 0 0 3
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
Parathyroid adenoma, somatic 0 0 0 0 0 0 1 1
Renal hypodysplasia/aplasia 1 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: 58
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HGVS dbSNP
NM_000244.3(MEN1):c.-20G>A rs386134244
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.1087_1089GAG[1] (p.Glu364del) rs1060499971
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1323G>T (p.Trp441Cys) rs398124435
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1394G>A (p.Arg465Gln) rs200035619
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1431C>T (p.Gly477=) rs764509990
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1594C>T (p.Arg532Ter) rs104894261
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_000244.3(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000244.3(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.670-11dup rs772016629
NM_000244.3(MEN1):c.670-4del rs748005956
NM_000244.3(MEN1):c.670-6C>A rs77461664
NM_000244.3(MEN1):c.670-6C>G rs77461664
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000244.3(MEN1):c.789G>C (p.Gln263His) rs374659656
NM_000244.3(MEN1):c.798+1G>A rs794728652
NM_000244.3(MEN1):c.799-19TC[2] rs764290037
NM_000244.3(MEN1):c.799-1G>C rs1555165377
NM_000244.3(MEN1):c.803T>C (p.Leu268Pro) rs1114167502
NM_000244.3(MEN1):c.840-10C>G rs999121619
NM_000244.3(MEN1):c.845C>A (p.Pro282His) rs1060499973
NM_000244.3(MEN1):c.927+1G>C rs398124437
NM_000244.3(MEN1):c.928-2A>G rs1114167498
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_130799.2(MEN1):c.1174del (p.Glu392fs) rs386134247

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