View unique variants in gene MFN2

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - c.205G>T - r.(?) p.(Val69Phe) - - - - 1 Unknown - g.12052641G>T - - - MFN2_000037 MSCV_0015238 - - ; clinvar; - - - -
./. 1 - - c.227T>C - r.(?) p.(Leu76Pro) - - - - 1 Unknown - g.12052663T>C - - - MFN2_000038 MSCV_0015239 - - ; clinvar; - - - -
./., ?/? 2 - 4/4 c.280C>T - r.(?) p.(Arg94Trp) probably_damaging(0.995) missense_variant - -, deleterious(0) 1 Unknown subst g.12052716C>T - 3.570 - MFN2_000005 MSCV_0000009, MSCV_0010009 rs119103263 - clinvar; 16835246;16437557;15064763 - - -
./. 1 - - c.281G>A - r.(?) p.(Arg94Gln) - - - - 1 Unknown - g.12052717G>A - - - MFN2_000039 MSCV_0015241 - - ; clinvar; - - - -
./., ?/? 2 - 3/18 c.310C>T - r.(?) p.(Arg104Trp) probably_damaging(0.999) missense_variant,splice_region_variant - -, deleterious(0) 1 Unknown subst g.12052746C>T - 2.200 - MFN2_000003 MSCV_0000010 rs119103268 - clinvar; 18425620;18946002;25025039;21840889;21531138 - - -
./. 1 - - c.436C>T - r.(?) p.(Leu146Phe) - - - - 1 Unknown - g.12056337C>T - - - MFN2_000040 MSCV_0015243 - - ; clinvar; - - - -
./. 1 - - c.479T>G - r.(?) p.(Val160Gly) - - - - 1 Unknown - g.12057358T>G - - - MFN2_000041 MSCV_0015244 - - ; clinvar; - - - -
./. 1 - - c.493C>G - r.(?) p.(His165Asp) - - - - 1 Unknown - g.12057372C>G - - - MFN2_000025 MSCV_0015245 - - ; clinvar; - - - -
./. 1 - - c.494A>G - r.(?) p.(His165Arg) - - - - 1 Unknown - g.12057373A>G - - - MFN2_000026 MSCV_0015246 - - ; clinvar; - - - -
./. 1 - - c.526G>A - r.(?) p.(Gly176Ser) - - - - 1 Unknown - g.12057405G>A - - - MFN2_000027 MSCV_0015247 - - ; clinvar; - - - -
./., ?/? 2 - 6/18 c.617C>T - r.(?) p.(Thr206Ile) benign(0.302) missense_variant - -, deleterious(0) 1 Unknown subst g.12058844C>T - 5.200 - MFN2_000004 MSCV_0000011 rs119103266 - clinvar; 16437557 - - -
./. 1 - - c.707C>T - r.(?) p.(Thr236Met) - - - - 1 Unknown - g.12058934C>T - - - MFN2_000028 MSCV_0015249 - - ; clinvar; - - - -
./. 1 - - c.720C>G - r.(?) p.(Phe240Leu) - - - - 1 Unknown - g.12059056C>G - - - MFN2_000029 MSCV_0015250 - - ; clinvar; - - - -
./. 1 - - c.730G>A - r.(?) p.(Val244Met) - - - - 1 Unknown - g.12059066G>A - - - MFN2_000031 MSCV_0015252 - - ; clinvar; - - - -
./. 1 - - c.730G>T - r.(?) p.(Val244Leu) - - - - 1 Unknown - g.12059066G>T - - - MFN2_000030 MSCV_0015251 - - ; clinvar; - - - -
./. 1 - - c.746C>T - r.(?) p.(Ser249Phe) - - - - 1 Unknown - g.12059082C>T - - - MFN2_000032 MSCV_0015253 - - ; clinvar; - - - -
./. 1 - - c.751C>G - r.(?) p.(Pro251Ala) - - - - 1 Unknown - g.12059087C>G - - - MFN2_000033 MSCV_0015254 - - ; clinvar; - - - -
./. 1 - - c.775C>T - r.(?) p.(Arg259Cys) - - - - 1 Unknown - g.12059111C>T - - - MFN2_000034 MSCV_0015255 - - ; clinvar; - - - -
./., ?/? 2 - 8/18 c.827A>G - r.(?) p.(Gln276Arg) benign(0.079) missense_variant - -, deleterious(0) 1 Unknown subst g.12061468A>G - 5.230 - MFN2_000001 MSCV_0000012 rs119103264 - clinvar; 16437557 - - -
./. 1 - - c.839G>A - r.(?) p.(Arg280His) - - - - 1 Unknown - g.12061480G>A - - - MFN2_000035 MSCV_0015257 - - ; clinvar; - - - -
./. 1 - - c.1071G>C - r.(?) p.(Lys357Asn) - - - - 1 Unknown - g.12062071G>C - - - MFN2_000036 MSCV_0015258 - - ; clinvar; - - - -
./. 1 - - c.1085C>T - r.(?) p.(Thr362Met) - - - - 1 Unknown - g.12062085C>T - - - MFN2_000012 MSCV_0015259 - - ; clinvar; - - - -
./., ?/? 2 - 10/18 c.1090C>T - r.(?) p.(Arg364Trp) probably_damaging(0.996) missense_variant - -, deleterious(0) 1 Unknown subst g.12062090C>T - 4.700 - MFN2_000002 MSCV_0000013 rs119103265 - clinvar; 16437557;16835246 - - -
./. 1 - - c.1126A>G - r.(?) p.(Met376Val) - - - - 1 Unknown - g.12062126A>G - - - MFN2_000013 MSCV_0015261 - - ; clinvar; - - - -
./. 1 - - c.1143_1145del - r.(?) p.(Ala383del) - - - - 1 Unknown - g.12062143_12062145del - - - MFN2_000014 MSCV_0015262 - - ; clinvar; - - - -
./. 1 - - c.1148C>T - r.(?) p.(Ala383Val) - - - - 1 Unknown - g.12062148C>T - - - MFN2_000015 MSCV_0015263 - - ; clinvar; - - - -
./. 1 - - c.1392+2T>C - r.spl? p.? - - - - 1 Unknown - g.12064672T>C - - - MFN2_000016 MSCV_0015264 - - ; clinvar; - - - -
./. 1 - - c.1403G>A - r.(?) p.(Arg468His) - - - - 1 Unknown - g.12064892G>A - - - MFN2_000017 MSCV_0015265 - - ; clinvar; - - - -
./. 1 - - c.1426C>G - r.(?) p.(Arg476Gly) - - - - 1 Unknown - g.12064915C>G - - - MFN2_000018 MSCV_0015266 - - ; clinvar; - - - -
./. 1 - - c.1555C>T - r.(?) p.(Arg519Cys) - - - - 1 Unknown - g.12065827C>T - - - MFN2_000019 MSCV_0015267 - - ; clinvar; - - - -
./. 1 - - c.1837_1838insG - r.(?) p.(Thr614Aspfs*35) - - - - 1 Unknown - g.12066715_12066716insG - - - MFN2_000020 MSCV_0015268 - - ; clinvar; - - - -
./. 1 - - c.1946G>C - r.(?) p.(Arg649Pro) - - - - 1 Unknown - g.12067183G>C - - - MFN2_000021 MSCV_0015269 - - ; clinvar; - - - -
./. 1 - - c.2119C>T - r.(?) p.(Arg707Trp) - - - - 1 Unknown - g.12069698C>T - - - MFN2_000022 MSCV_0015270 - - ; clinvar; - - - -
./. 1 - - c.2219G>C - r.(?) p.(Trp740Ser) - - - - 1 Unknown - g.12071567G>C - - - MFN2_000023 MSCV_0015271 - - ; clinvar; - - - -
./. 1 - - c.2256C>A - r.(?) p.(Tyr752*) - - - - 1 Unknown - g.12071604C>A - - - MFN2_000024 MSCV_0015272 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium