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 per condition Variants with at least 2 submissions on the same condition 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 conflict
562 77 0 31 18 0 17 54

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 10 7 0 0
likely pathogenic 10 0 10 0 0
uncertain significance 7 10 0 18 8
likely benign 0 0 18 0 21
benign 0 0 8 21 0

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1082A>G (p.His361Arg) rs1064793170
NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
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.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1641C>T (p.Leu547=) rs140924661
NM_014874.3(MFN2):c.1724G>A (p.Arg575His) rs564375950
NM_014874.3(MFN2):c.1728C>T (p.Pro576=) rs147802404
NM_014874.3(MFN2):c.175+9G>A rs373340717
NM_014874.3(MFN2):c.176-7C>T rs374055101
NM_014874.3(MFN2):c.179C>T (p.Thr60Met) rs138345244
NM_014874.3(MFN2):c.1818C>T (p.Gly606=) rs373843969
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.1987C>T (p.Arg663Cys) rs369762154
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.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.3(MFN2):c.406dup (p.Val136fs) rs759844257
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.3(MFN2):c.541G>A (p.Val181Met) rs863224064
NM_014874.3(MFN2):c.564C>T (p.Cys188=) rs536007087
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.725A>G (p.His242Arg) rs863224065
NM_014874.3(MFN2):c.72G>T (p.Val24=) rs138454088
NM_014874.3(MFN2):c.748C>T (p.Arg250Trp) rs373107074
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.756C>T (p.Asn252=) rs137960129
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.818T>G (p.Val273Gly) rs1458700065
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.898C>T (p.Arg300Cys) rs863224066
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr)
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup) rs1553143791

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