Full data view for gene MFN2

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_014874.3 transcript reference sequence.

413 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-2840690_*628378del r.0? p.0? Unknown - likely pathogenic g.9200001_12700000del g.9100001_12500000del CGH array deletion in Cr1p36.22 involving NMNAT1 gene, - MTHFR_000084 am apparent homozygous NMNAT1 mutation was found, probably on the other allele PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 16 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-/. 1 c.-387_-372del r.(?) p.(=) Parent #1 - benign g.12040304_12040319del g.11980247_11980262del –372_387del - MFN2_010030 - PubMed: Casasnovas 2010 - - Germline - 0.35 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. - c.-367A>G r.(?) p.(=) Unknown - benign g.12040324A>G g.11980267A>G MFN2(NM_014874.4):c.-367A>G - MFN2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-367A>G r.(?) p.(=) Both (homozygous) - benign g.12040324A>G g.11980267A>G - - MFN2_000121 - PubMed: Casasnovas 2010 - rs2236054 Germline - 0.59 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. 1 c.-367A>G r.(?) p.(=) Parent #1 - benign g.12040324A>G g.11980267A>G - - MFN2_000121 - PubMed: Casasnovas 2010 - rs2236054 Germline - 0.482 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. - c.-212T>C r.(?) p.(=) Unknown - benign g.12040479T>C g.11980422T>C MFN2(NM_014874.4):c.-212T>C - MFN2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-212T>C r.(?) p.(=) Both (homozygous) - benign g.12040479T>C g.11980422T>C - - MFN2_000122 - PubMed: Casasnovas 2010 - rs2180183 Germline - 0.12 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. 1 c.-212T>C r.(?) p.(=) Parent #1 - benign g.12040479T>C g.11980422T>C - - MFN2_000122 - PubMed: Casasnovas 2010 - rs2180183 Germline - 0.518 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. 1i c.-149-15T>G r.(?) p.(=) Parent #1 - benign g.12042012T>G g.11981955T>G - - MFN2_010031 - PubMed: Casasnovas 2010 - - Germline - 0.12 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
?/. 2i c.-4-13G>T r.(=) p.(=) Parent #1 - VUS g.12049209G>T g.11989152G>T - - MFN2_000114 c-4-13G>T laut Alamut - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-4-13G>T r.(=) p.(=) Unknown - likely benign g.12049209G>T g.11989152G>T MFN2(NM_014874.3):c.-4-13G>T, MFN2(NM_014874.4):c.-4-13G>T - MFN2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4-13G>T r.(=) p.(=) Unknown - likely benign g.12049209G>T g.11989152G>T MFN2(NM_014874.3):c.-4-13G>T, MFN2(NM_014874.4):c.-4-13G>T - MFN2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.20G>A r.(?) p.(Arg7Gln) Unknown - VUS g.71155265C>T g.71444219C>T - - DHCR7_000185 - PubMed: Almomani 2011 - - Germline - - - - - DNA SEQ-NG - WES autism, BMD/DMD, TSC, retinal disease - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. 3 c.20G>A r.(?) p.(Arg7Gln) Unknown - likely pathogenic g.12049245G>A - c.20G>A - DHCR7_000185 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
-?/. - c.58C>T r.(?) p.(His20Tyr) Unknown - likely benign g.12049283C>T g.11989226C>T MFN2(NM_014874.3):c.58C>T (p.H20Y) - MFN2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.78A>G r.(?) p.(Ala26=) Unknown - VUS g.12049303A>G g.11989246A>G MFN2(NM_014874.4):c.78A>G (p.A26=) - MFN2_010020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.109A>G r.(?) p.(Lys37Glu) Parent #1 - likely pathogenic g.12049334A>G g.11989277A>G - - MFN2_000100 Functional validation will be performed PubMed: Neveling 2013 - - Germline ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+/. 3 c.113_115del r.(?) p.(Lys38del) Unknown - pathogenic g.12049338_12049340del g.11989281_11989283del 113_115delAGA - MFN2_000095 - PubMed: Polke 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Polke 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.119A>G r.(?) p.(Asn40Ser) Unknown - likely benign g.12049344A>G g.11989287A>G MFN2(NM_014874.3):c.119A>G (p.N40S), MFN2(NM_014874.4):c.119A>G (p.(Asn40Ser)) - MFN2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.119A>G r.(?) p.(Asn40Ser) Unknown - likely benign g.12049344A>G g.11989287A>G MFN2(NM_014874.3):c.119A>G (p.N40S), MFN2(NM_014874.4):c.119A>G (p.(Asn40Ser)) - MFN2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119A>G r.(?) p.(Asn40Ser) Unknown - VUS g.12049344A>G - MFN2(NM_014874.3):c.119A>G (p.N40S), MFN2(NM_014874.4):c.119A>G (p.(Asn40Ser)) - MFN2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.134A>G r.(?) p.(Gln45Arg) Unknown - pathogenic g.12049359A>G g.11989302A>G - - MFN2_000002 - PubMed: Bienfait 2007 - - Germline - - - - - DNA SEQ - - CMT2 - PubMed: Bienfait 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.134A>G r.(?) p.(Gln45Arg) Unknown - pathogenic g.12049359A>G g.11989302A>G MFN2(NM_014874.4):c.134A>G (p.Q45R) - MFN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>A r.(?) p.(Ile50=) Unknown - likely benign g.12049375C>A g.11989318C>A MFN2(NM_014874.3):c.150C>A (p.I50=), MFN2(NM_014874.4):c.150C>A (p.I50=) - MFN2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150C>A r.(?) p.(Ile50=) Unknown - benign g.12049375C>A g.11989318C>A MFN2(NM_014874.3):c.150C>A (p.I50=), MFN2(NM_014874.4):c.150C>A (p.I50=) - MFN2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159C>T r.(?) p.(Ser53=) Unknown - benign g.12049384C>T - MFN2(NM_014874.4):c.159C>T (p.S53=) - MFN2_010073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165C>T r.(?) p.(Thr55=) Unknown - benign g.12049390C>T g.11989333C>T MFN2(NM_014874.3):c.165C>T (p.T55=), MFN2(NM_014874.4):c.165C>T (p.T55=) - MFN2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Thr55=) Unknown - likely benign g.12049390C>T g.11989333C>T MFN2(NM_014874.3):c.165C>T (p.T55=), MFN2(NM_014874.4):c.165C>T (p.T55=) - MFN2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175+2dup r.spl? p.? Unknown - VUS g.12049402dup - MFN2(NM_014874.4):c.175+2dupT - MFN2_010068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.175+9G>A r.(=) p.(=) Unknown - benign g.12049409G>A g.11989352G>A MFN2(NM_014874.4):c.175+9G>A - MFN2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.176-207G>A r.(=) p.(=) Both (homozygous) - benign g.12052405G>A g.11992348G>A - - MFN2_010032 - PubMed: Casasnovas 2010 - rs667593 Germline - 0.12 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. 3i c.176-207G>A r.(?) p.(=) Parent #1 - benign g.12052405G>A g.11992348G>A - - MFN2_010032 - PubMed: Casasnovas 2010 - rs667593 Germline - 0.294 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. 3i c.176-179C>A r.(?) p.(=) Parent #1 - benign g.12052433C>A g.11992376C>A - - MFN2_010033 - PubMed: Casasnovas 2010 - - Germline - 0.12 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. - c.176-7C>T r.(=) p.(=) Unknown - benign g.12052605C>T - MFN2(NM_014874.4):c.176-7C>T - MFN2_010086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.205G>T r.(?) p.(Val69Phe) Unknown - pathogenic g.12052641G>T g.11992584G>T - - MFN2_000003 - PubMed: Zuchner 2004 - rs28940296 Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Zuchner 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.205G>T r.(?) p.(Val69Phe) Unknown - pathogenic g.12052641G>T g.11992584G>T MFN2(NM_014874.4):c.205G>T (p.V69F) - MFN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.227T>C r.(?) p.(Leu76Pro) Unknown - pathogenic g.12052663T>C g.11992606T>C - - MFN2_000004 - PubMed: Zuchner 2004 - rs28940293 Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Zuchner 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.227T>C r.(?) p.(Leu76Pro) Unknown - pathogenic g.12052663T>C g.11992606T>C MFN2(NM_014874.4):c.227T>C (p.L76P) - MFN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.250A>G r.(?) p.(Lys84Glu) Unknown ACMG pathogenic g.12052686A>G g.11992629A>G - - MFN2_000119 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - CMT2A2A - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.262A>T r.(?) p.(Ile88Phe) Unknown - likely pathogenic (dominant) g.12052698A>T g.11992641A>T - - MFN2_010034 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 4 c.262A>T r.(?) p.(Ile88Phe) Unknown - VUS g.12052698A>T g.11992641A>T - - MFN2_010034 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4506 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.262A>T r.(?) p.(Ile88Phe) Unknown - VUS g.12052698A>T - MFN2(NM_014874.4):c.262A>T (p.I88F) - MFN2_010034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.275T>C r.(?) p.(Leu92Pro) Unknown - pathogenic g.12052711T>C g.11992654T>C - - MFN2_000005 - PubMed: Chung 2006 - - Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Chung 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.275T>C r.(?) p.(Leu92Pro) Unknown - pathogenic g.12052711T>C g.11992654T>C MFN2(NM_014874.4):c.275T>C (p.L92P) - MFN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.275T>G r.(?) p.(Leu92Arg) Unknown - pathogenic g.12052711T>G g.11992654T>G - - MFN2_000006 - PubMed: McCorquodale 2011 - - Germline - - - - - DNA SEQ - - CMT2 - PubMed: McCorquodale 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.280C>T r.(?) p.(Arg94Trp) Unknown - pathogenic g.12052716C>T g.11992659C>T - - MFN2_000007 - PubMed: Zuchner 2006 - - Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Zuchner 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.280C>T r.(?) p.(Arg94Trp) Unknown - pathogenic g.12052716C>T g.11992659C>T MFN2(NM_014874.4):c.280C>T (p.R94W) - MFN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.280C>T r.(?) p.(Arg94Trp) Unknown - pathogenic g.12052716C>T g.11992659C>T MFN2(NM_014874.4):c.280C>T (p.R94W) - MFN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.280C>T r.(?) p.(Arg94Trp) Unknown - likely pathogenic g.12052716C>T g.11992659C>T - - MFN2_000007 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
+/. - c.280C>T r.(?) p.(Arg94Trp) Unknown - pathogenic g.12052716C>T g.11992659C>T MFN2(NM_014874.4):c.280C>T (p.R94W) - MFN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.280C>T r.(?) p.(Arg94Trp) Parent #1 - pathogenic g.12052716C>T g.11992659C>T - - MFN2_000007 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs119103263 Germline - 16/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
+/. - c.280C>T r.(?) p.(Arg94Trp) Unknown - pathogenic (dominant) g.12052716C>T g.11992659C>T - - MFN2_000007 - PubMed: Antoniadi 2015 - rs119103263 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-MFN2-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.280C>T r.(?) p.(Arg94Trp) Unknown - pathogenic (dominant) g.12052716C>T g.11992659C>T - - MFN2_000007 - PubMed: Antoniadi 2015 - rs119103263 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-MFN2-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4 c.280C>T r.(?) p.(Arg94Trp) Parent #1 - pathogenic (dominant) g.12052716C>T g.11992659C>T - - MFN2_000007 - PubMed: Casasnovas 2010 - - Germline - - - - - DNA SEQ - - CMT2 MFN06-7 PubMed: Casasnovas 2010 - - - Spain - - - - - 1 Johan den Dunnen
+/. 4 c.281G>A r.(?) p.(Arg94Gln) Unknown - pathogenic g.12052717G>A g.11992660G>A - - MFN2_000008 - PubMed: Zuchner 2004 - rs28940291 Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Zuchner 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.281G>A r.(?) p.(Arg94Gln) Unknown - pathogenic g.12052717G>A g.11992660G>A MFN2(NM_014874.4):c.281G>A (p.R94Q) - MFN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.281G>A r.(?) p.(Arg94Gln) Parent #1 - pathogenic g.12052717G>A g.11992660G>A - - MFN2_000008 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat14 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
?/. - c.281G>A r.(?) p.(Arg94Gln) Unknown - VUS g.12052717G>A g.11992660G>A - - MFN2_000008 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
+/. 4 c.281G>A r.(?) p.(Arg94Gln) Parent #1 - pathogenic (dominant) g.12052717G>A g.11992660G>A - - MFN2_000008 - PubMed: Casasnovas 2010 - - Germline - - - - - DNA SEQ - - CMT2 MFN06-15 PubMed: Casasnovas 2010 family, 2 affected - - Spain - - - - - 2 Johan den Dunnen
+/. 4 c.292A>G r.(?) p.(Lys98Glu) Unknown - pathogenic g.12052728A>G g.11992671A>G - - MFN2_000009 - PubMed: Vallat 2008 - - Germline - - - - - DNA SEQ - - ? - PubMed: Vallat 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.299C>G r.(?) p.(Ala100Gly) Unknown - pathogenic g.12052735C>G g.11992678C>G - - MFN2_000010 - PubMed: Verhoeven 2006 - - Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Verhoeven 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.299C>G r.(?) p.(Ala100Gly) Unknown - pathogenic g.12052735C>G g.11992678C>G MFN2(NM_014874.4):c.299C>G (p.A100G) - MFN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.299C>T r.(?) p.(Ala100Val) Unknown - likely pathogenic g.12052735C>T g.11992678C>T - - MFN2_010014 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
?/. - c.306dup r.(?) p.(Gly103Trpfs*41) Unknown - VUS g.12052742dup g.11992685dup g.12052742dupT - MFN2_010015 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
+/. 4 c.310C>T r.(?) p.(Arg104Trp) Parent #1 - pathogenic g.12052746C>T g.11992689C>T - - MFN2_000113 - - - - Germline - - - - - DNA SEQ - - CMT - - - - - Germany - - - - - 1 Andreas Laner
+/. 4 c.310C>T r.(?) p.(Arg104Trp) Unknown - pathogenic g.12052746C>T g.11992689C>T - - MFN2_000011 - PubMed: Brockmann 2008 - - Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Brockmann 2008 - - - - - - - - - 1 Johan den Dunnen
?/. - c.310C>T r.(?) p.(Arg104Trp) Unknown - VUS g.12052746C>T g.11992689C>T - - MFN2_010013 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
+/. - c.310C>T r.(?) p.(Arg104Trp) Unknown - pathogenic g.12052746C>T g.11992689C>T MFN2 c.310C>T, p.Arg104Trp - MFN2_000011 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease CMT1 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Thr105Ala) Parent #1 - pathogenic g.12056214A>G g.11996157A>G - - MFN2_000157 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat16 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. 5 c.314C>T r.(?) p.(Thr105Met) Parent #1 - pathogenic g.12056215C>T g.11996158C>T - - MFN2_000112 - - - - Germline - - - - - DNA SEQ - - CMT - - - - - Germany - - - - - 1 Andreas Laner
+/. 5 c.314C>T r.(?) p.(Thr105Met) Unknown - pathogenic g.12056215C>T g.11996158C>T - - MFN2_000012 - PubMed: Kijima 2005 - - Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Kijima 2005 - - - - - - - - - 1 Johan den Dunnen
+/. - c.314C>T r.(?) p.(Thr105Met) Unknown - pathogenic g.12056215C>T g.11996158C>T MFN2(NM_014874.4):c.314C>T (p.T105M) - MFN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.322G>A r.(?) p.(Gly108Arg) Unknown - pathogenic g.12056223G>A g.11996166G>A - - MFN2_000013 - PubMed: Calvo 2009 - - Germline - - - - - DNA SEQ - - CMT2 - PubMed: Calvo 2009 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.330C>T r.(?) p.(Ser110=) Unknown - likely benign g.12056231C>T g.11996174C>T MFN2(NM_014874.4):c.330C>T (p.S110=) - MFN2_010027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333C>T r.(?) p.(Thr111=) Unknown - likely benign g.12056234C>T - MFN2(NM_014874.4):c.333C>T (p.T111=) - MFN2_010074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.334G>A r.(?) p.(Val112Met) Both (homozygous) - pathogenic (recessive) g.12056235G>A g.11996178G>A - - MFN2_010071 - PubMed: Kanwal 2021 - - Germline yes - - - - DNA SEQ - - CMT PaC14:IV-2 PubMed: Kanwal 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - >07y - - - 1 Sarah El-Bestawi
+/. 5 c.368C>T r.(?) p.(Pro123Leu) Unknown - pathogenic g.12056269C>T g.11996212C>T - - MFN2_000014 - PubMed: Verhoeven 2006 - - Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Verhoeven 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.368C>T r.(?) p.(Pro123Leu) Unknown - pathogenic g.12056269C>T g.11996212C>T MFN2(NM_014874.4):c.368C>T (p.P123L) - MFN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368C>T r.(?) p.(Pro123Leu) Parent #1 - pathogenic g.12056269C>T g.11996212C>T - - MFN2_000014 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat15 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. 5 c.380G>A r.(?) p.(Gly127Asp) Unknown - pathogenic g.12056281G>A g.11996224G>A - - MFN2_000015 - PubMed: Chung 2006 - - Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Chung 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.380G>A r.(?) p.(Gly127Asp) Unknown - pathogenic g.12056281G>A g.11996224G>A MFN2(NM_014874.4):c.380G>A (p.G127D) - MFN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.380G>T r.(?) p.(Gly127Val) Parent #1 - pathogenic (dominant) g.12056281G>T g.11996224G>T - - MFN2_000016 not in 194 control chromosomes PubMed: Engelfried 2006 - - Germline - 1/73 cases CMT2 - - - DNA SEQ - - CMT2 Pat1 PubMed: Engelfried 2006 family, only proband available F - Germany - - - - - 1 Johan den Dunnen
+/. - c.380G>T r.(?) p.(Gly127Val) Unknown - pathogenic g.12056281G>T g.11996224G>T MFN2(NM_014874.4):c.380G>T (p.G127V) - MFN2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.383A>G r.(?) p.(His128Arg) Unknown - pathogenic g.12056284A>G g.11996227A>G - - MFN2_000017 - PubMed: Calvo 2009 - - Germline - - - - - DNA SEQ - - CMT2 - PubMed: Calvo 2009 - - - - - - - - - 1 Johan den Dunnen
+?/. 5 c.385A>C r.(?) p.(Thr129Pro) Unknown - likely pathogenic g.12056286A>C g.11996229A>C - - MFN2_000115 - - - - Germline - - - - - DNA SEQ - - CMT - - - F - - - - - - - 1 Alessandro Geroldi
+?/. - c.385A>G r.(?) p.(Thr129Ala) Unknown - likely pathogenic g.12056286A>G g.11996229A>G MFN2(NM_014874.3):c.385A>G(p.T129A) - MFN2_010078 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 147 - - - DNA SEQ-NG-I blood - ? WHP47 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. 5 c.392A>G r.(?) p.(Asn131Ser) Unknown - pathogenic g.12056293A>G g.11996236A>G - - MFN2_000018 - PubMed: Fischer 2011 - - Germline - - - - - DNA SEQ - - CMT1 - PubMed: Fischer 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.395G>A r.(?) p.(Cys132Tyr) Unknown - pathogenic g.12056296G>A g.11996239G>A - - MFN2_000019 - PubMed: Zhang 2009 - - Germline - - - - - DNA SEQ - - CMT2 - PubMed: Zhang 2009 - - - - - - - - - 1 Johan den Dunnen
?/. - c.404G>A r.(?) p.(Arg135Gln) Unknown ACMG VUS g.12056305G>A g.11996248G>A - - MFN2_000154 - - - - Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
-?/. - c.408A>T r.(?) p.(Val136=) Unknown - likely benign g.12056309A>T g.11996252A>T MFN2(NM_014874.3):c.408A>T (p.V136=), MFN2(NM_014874.4):c.408A>T (p.V136=) - MFN2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408A>T r.(?) p.(Val136=) Unknown - benign g.12056309A>T g.11996252A>T MFN2(NM_014874.3):c.408A>T (p.V136=), MFN2(NM_014874.4):c.408A>T (p.V136=) - MFN2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425A>C r.(?) p.(His142Pro) Unknown - likely benign g.12056326A>C g.11996269A>C MFN2(NM_014874.4):c.425A>C (p.H142P) - MFN2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.436C>T r.(?) p.(Leu146Phe) Unknown - pathogenic g.12056337C>T g.11996280C>T - - MFN2_000020 - PubMed: Klein 2011 - - Germline - - - - - DNA SEQ - - CMT2A2A - PubMed: Klein 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.444C>T r.(?) p.(Thr148=) Unknown - likely benign g.12056345C>T g.11996288C>T MFN2(NM_014874.3):c.444C>T (p.T148=) - MFN2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.467G>T r.(?) p.(Ser156Ile) Unknown - pathogenic g.12056368G>T g.11996311G>T - - MFN2_000021 - PubMed: Calvo 2009 - - Germline - - - - - DNA SEQ - - CMT2 - PubMed: Calvo 2009 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.474+65C>T r.(=) p.(=) Both (homozygous) - benign g.12056440C>T g.11996383C>T - - MFN2_010035 - PubMed: Casasnovas 2010 - rs223605 Germline - 0.106 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. 5i c.474+65C>T r.(=) p.(=) Parent #1 - benign g.12056440C>T g.11996383C>T - - MFN2_010035 - PubMed: Casasnovas 2010 - rs223605 Germline - 0.647 in controls - - - DNA SEQ - - Healthy/Control controls PubMed: Casasnovas 2010 analysis controls - - Spain - - - - - 1 Johan den Dunnen
-/. - c.474+65C>T r.(=) p.(=) Unknown - benign g.12056440C>T - MFN2(NM_014874.3):c.474+65C>T - MFN2_010035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475-10C>G r.(=) p.(=) Unknown - likely benign g.12057344C>G g.11997287C>G MFN2(NM_014874.3):c.475-10C>G - MFN2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475-10C>G r.(=) p.(=) Unknown - likely benign g.12057344C>G g.11997287C>G MFN2(NM_014874.3):c.475-10C>G - MFN2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.