ClinVar Miner

Variants in gene MFN2 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
202 84 0 27 13 0 7 42

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 2 1 1
likely pathogenic 6 0 5 0 0
uncertain significance 2 5 0 11 6
likely benign 1 0 11 0 21
benign 1 0 6 21 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001127660.1(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_001127660.1(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1495+9C>T rs375494746
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1641C>T (p.Leu547=) rs140924661
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.175+9G>A rs373340717
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2157G>A (p.Lys719=) rs148441213
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.725A>G (p.His242Arg) rs863224065
NM_014874.3(MFN2):c.72G>T (p.Val24=) rs138454088
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.756C>T (p.Asn252=) rs137960129
NM_014874.3(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.3(MFN2):c.828_830dupGCA (p.Gln276_His277insGln) rs1553143791
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.975C>T (p.Gly325=) rs141475476

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