Full data view for gene DNM1L

Information The variants shown are described using the NM_001278464.1 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.106A>G r.(?) p.(Ser36Gly) Maternal (confirmed) - pathogenic g.32854352A>G g.32701418A>G - - DNM1L_000002 - PubMed: Nasca 2016, Journal: Nasca 2016, OMIM:var0007 - rs879255688 Germline yes - - 0 - DNA, RNA RT-PCR, SEQ-NG RNA fibroblasts Pat1 - ? 27328748-Fam PubMed: Nasca 2016, Journal: Nasca 2016 2-generation family, 2 affected brothers (II2/II3), unaffected heterozygous carrier parents M no Italy - - 0 - - 2 Daniele Ghezzi
-?/. - c.251A>G r.(?) p.(Asp84Gly) Unknown - likely benign g.32858759A>G g.32705825A>G DNM1L(NM_001278464.1):c.251A>G (p.(Asp84Gly)) - DNM1L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.261dup r.(?) p.(Trp88Metfs*9) Paternal (confirmed) - pathogenic g.32858769dup g.32705835dup NM_001278464.1:c.261dup (Trp88Metfs*9) - DNM1L_000008 immunofluorescence studies of the sural nerve revealed absent DNM1L protein PubMed: Yoon 2016, Journal: Yoon 2016, OMIM:var0004 - rs879255686 Germline yes - - 0 - DNA SEQ, SEQ-NG - - EMPF 26825290-FamPatA PubMed: Yoon 2016, Journal: Yoon 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Canada Filipino 00y00m21d 0 - - 2 Johan den Dunnen
+/. - c.261dup r.(?) p.(Trp88Metfs*9) Paternal (confirmed) - pathogenic g.32858769dup g.32705835dup NM_001278464.1:c.261dup (Trp88Metfs*9) - DNM1L_000008 immunofluorescence studies of the sural nerve revealed absent DNM1L protein PubMed: Yoon 2016, Journal: Yoon 2016, OMIM:var0004 - rs879255686 Germline yes - - 0 - DNA SEQ, SEQ-NG - - EMPF 26825290-FamPatB PubMed: Yoon 2016, Journal: Yoon 2016 - M no Canada Filipino 00y00m08d 0 - - 1 Johan den Dunnen
+?/+? - c.344C>T r.(?) p.(Thr115Met) Unknown - likely pathogenic (dominant) g.32861094C>T - - - DNM1L_000020 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG Blood - neuropathy, optic, OPA - - - F - (France) - - 0 - - 1 Marc Ferre
+/. - c.385_386del r.(?) p.(Glu129Lysfs*6) Paternal (confirmed) - pathogenic g.32861135_32861136del g.32708201_32708202del 346_347delGA - DNM1L_000003 mRNA expression strongly reduced PubMed: Nasca 2016, Journal: Nasca 2016, OMIM:var0005 - rs879255687 Germline yes - - 0 - DNA, RNA RT-PCR, SEQ-NG RNA fibroblasts Pat1 - ? 27328748-Fam PubMed: Nasca 2016, Journal: Nasca 2016 2-generation family, 2 affected brothers (II2/II3), unaffected heterozygous carrier parents M no Italy - - 0 - - 2 Daniele Ghezzi
+/. - c.385_386del r.(?) p.(Glu129Lysfs*6) Maternal (confirmed) - pathogenic g.32861135_32861136del g.32708201_32708202del NM_001278464.1:c.385_386del (Glu129Lys*6) - DNM1L_000003 - PubMed: Yoon 2016, Journal: Yoon 2016, OMIM:var0005 - rs879255687 Germline yes - - 0 - DNA SEQ, SEQ-NG - - EMPF 26825290-FamPatA PubMed: Yoon 2016, Journal: Yoon 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Canada Filipino 00y00m21d 0 - - 2 Johan den Dunnen
+/. - c.385_386del r.(?) p.(Glu129Lysfs*6) Maternal (confirmed) - pathogenic g.32861135_32861136del g.32708201_32708202del NM_001278464.1:c.385_386del (Glu129Lys*6) - DNM1L_000003 - PubMed: Yoon 2016, Journal: Yoon 2016, OMIM:var0005 - rs879255687 Germline yes - - 0 - DNA SEQ, SEQ-NG - - EMPF 26825290-FamPatB PubMed: Yoon 2016, Journal: Yoon 2016 - M no Canada Filipino 00y00m08d 0 - - 1 Johan den Dunnen
-?/. - c.496-10_496-7del r.(=) p.(=) Unknown - likely benign g.32866133_32866136del - DNM1L(NM_001278464.1):c.496-10_496-7delTTTG - DNM1L_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.646G>A r.(?) p.(Val216Ile) Unknown ACMG likely pathogenic g.32866293G>A g.32713359G>A - - DNM1L_000005 - PubMed: Trujillano 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - EMPF - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - 1 Daniel Trujillano
+/. - c.707G>T r.(?) p.(Gly236Val) Unknown - pathogenic g.32871625G>T g.32718691G>T - - DNM1L_000015 - - - - De novo - - - 0 - DNA SEQ-NG-I - - EMPF pt-ab - - - - Italy - - 0 - - 1 Daniela Verrigni
-?/. - c.906A>G r.(?) p.(Leu302=) Unknown - likely benign g.32873724A>G - DNM1L(NM_001278464.1):c.906A>G (p.L302=) - YARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.963A>G r.(?) p.(Ile321Met) Unknown - VUS g.32875412A>G g.32722478A>G DNM1L(NM_001278464.1):c.963A>G (p.I321M) - DNM1L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1005C>T r.(?) p.(Tyr335=) Unknown - likely benign g.32875454C>T - DNM1L(NM_001278464.1):c.1005C>T (p.Y335=) - YARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1019A>C r.(?) p.(Asp340Ala) Unknown - likely benign g.32875468A>C - DNM1L(NM_001278464.1):c.1019A>C (p.D340A) - YARS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032T>C r.(?) p.(Ala344=) Unknown - likely benign g.32875481T>C - DNM1L(NM_001278464.1):c.1032T>C (p.A344=) - YARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1087G>A r.(?) p.(Gly363Arg) Maternal (confirmed) - pathogenic g.32875536G>A g.32722602G>A - - DNM1L_000010 maternal mosaicism (0.06-0.08) PubMed: Chao 2016, Journal: Chao 2016, OMIM:var0008 - rs879255689 De novo - - - 0 - DNA SEQ, SEQ-NG - - EE 26931468-Pat PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - 05y 0 - - 1 Johan den Dunnen
+/. - c.1087G>A r.(?) p.(Gly363Arg) Unknown - NA g.32875536G>A g.32722602G>A - - DNM1L_000010 cDNA expression cloning in Drosiphila failed to rescue Drp1 lethality and over-expression in normal cells showed dominant-negative effect with increased peroxisomal size, altered cellular distribution, decreased total peroxisome numbers per cell, abnormal mitochondrial morphology, abnormal mitochondrial trafficking PubMed: Chao 2016, Journal: Chao 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1118+10A>G r.(=) p.(=) Unknown - likely benign g.32875577A>G - DNM1L(NM_001278464.1):c.1118+10A>G - YARS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1123G>A r.(?) p.(Gly375Ser) Unknown - pathogenic g.32883952G>A g.32731018G>A - - DNM1L_000007 - PubMed: Sheffer 2016, Journal: Sheffer 2016, OMIM:var0003 - rs886037861 De novo - - - 0 - DNA SEQ, SEQ-NG - - EMPF 26992161-Pat1 PubMed: Sheffer 2016, Journal: Sheffer 2016 2-generation family, 1 affected, unaffected non-carrier parents/sibs M no Israel Arab, Moslem >02y 0 - - 1 Johan den Dunnen
+/. - c.1123G>A r.(?) p.(Gly375Ser) Unknown - NA g.32883952G>A g.32731018G>A - - DNM1L_000007 control fibroblast cDNA overexpression cloning induced significantly altered mitochondrial morphology PubMed: Sheffer 2016, Journal: Sheffer 2016, OMIM:var0003 - rs886037861 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1124G>A r.(?) p.(Gly375Asp) Unknown - pathogenic g.32883953G>A g.32731019G>A - - DNM1L_000001 changes conserved residue in middle (oligomerization) domain of protein PubMed: Vanstone 2016, Journal: Vanstone 2016, OMIM:var0002 - rs879255685 De novo - - - 0 - DNA SEQ-NG-I - - EMPF 26604000-Pat1 PubMed: Vanstone 2016, Journal: Vanstone 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Canada white - 0 - - 1 Matthew Lines
?/. - c.1132A>G r.(?) p.(Arg378Gly) Unknown - VUS g.32883961A>G - DNM1L(NM_001278464.1):c.1132A>G (p.R378G) - YARS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1148T>G r.(?) p.(Phe383Cys) Unknown - pathogenic g.32883977T>G g.32731043T>G - - DNM1L_000016 - - - - De novo - - - 0 - DNA SEQ-NG-I - - EMPF pt-szy - - - - Italy - - 0 - - 1 Daniela Verrigni
+/. - c.1174G>A r.(?) p.(Glu392Lys) Unknown - pathogenic g.32884003G>A g.32731069G>A - - DNM1L_000011 - PubMed: Chao 2016, Journal: Chao 2016 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - EE 26931468-Pat2 PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United States - 00y10m 0 - - 1 Johan den Dunnen
?/. - c.1174G>A r.(?) p.(Glu392Lys) Unknown - NA g.32884003G>A g.32731069G>A - - DNM1L_000011 cDNA expression cloning in Drosiphila rescued Drp1 lethality and over-expression in normal cells did not affect organelle morphology, although it was associated with a subtle mitochondrial trafficking defect in an in vivo assay PubMed: Chao 2016, Journal: Chao 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1223C>A r.(?) p.(Ala408Asp) Unknown - pathogenic g.32884052C>A g.32731118C>A - - DNM1L_000006 variant not in 400 control chromosomes PubMed: Waterham 2007, Journal: Waterham 2007, OMIM:var0001 - rs121908531 De novo yes - Hpy188I+ 0 - DNA SEQ - - EMPF 17460227-Pat1 PubMed: Waterham 2007, Journal: Waterham 2007 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) white, British 00y00m37d 0 - - 1 Johan den Dunnen
+/. - c.1223C>A r.(?) p.(Ala408Asp) Unknown - NA g.32884052C>A g.32731118C>A - - DNM1L_000006 control fibroblast cDNA overexpression cloning induced aberrant mitochondrial and peroxisomal phenotypes PubMed: Waterham 2007, Journal: Waterham 2007, OMIM:var0001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1223C>A r.(?) p.(Ala408Asp) Unknown - NA g.32884052C>A g.32731118C>A A395D - DNM1L_000006 mouse embryonic fibroblasts cDNA expression cloning reduces shows reduced oligomerization, mitochondrial fission activity and mitochondrial recruitment of DRP1 (stronger effect compared to R403C) PubMed: Fahrner 2016, Journal: Fahrner 2016 - rs121908531 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1223C>A r.(?) p.(Ala408Asp) Unknown - NA g.32884052C>A g.32731118C>A - - DNM1L_000006 cDNA expression cloning in Drosiphila failed to rescue Drp1 lethality and over-expression in normal cells showed dominant-negative effect with increased peroxisomal size, altered cellular distribution, decreased total peroxisome numbers per cell, abnormal mitochondrial morphology, abnormal mitochondrial trafficking PubMed: Chao 2016, Journal: Chao 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1246C>T r.(?) p.(Arg416Cys) Unknown - pathogenic g.32884296C>T g.32731362C>T - - DNM1L_000009 - PubMed: Fahrner 2016, Journal: Fahrner 2016, OMIM:var0006 - rs863223953 De novo - - - 0 - DNA SEQ, SEQ-NG - - EE 27145208-Pat1 PubMed: Fahrner 2016, Journal: Fahrner 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - >04y 0 - - 1 Johan den Dunnen
+/. - c.1246C>T r.(?) p.(Arg416Cys) Unknown - NA g.32884296C>T g.32731362C>T - - DNM1L_000009 mouse embryonic fibroblasts cDNA expression dear8LOVcloning reduces shows reduced oligomerization, mitochondrial fission activity and mitochondrial recruitment of DRP1 (to lesser extent as A395D) PubMed: Fahrner 2016, Journal: Fahrner 2016, OMIM:var0006 - rs863223953 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1246C>T r.(?) p.(Arg416Cys) Unknown - pathogenic g.32884296C>T g.32731362C>T - - DNM1L_000009 - PubMed: Fahrner 2016, Journal: Fahrner 2016, OMIM:var0006 - rs863223953 De novo - - - 0 - DNA SEQ, SEQ-NG - - EE 27145208-Pat2 PubMed: Fahrner 2016, Journal: Fahrner 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - >05y 0 - - 1 Johan den Dunnen
+?/. - c.1246C>T r.(?) p.(Arg416Cys) Unknown - likely pathogenic g.32884296C>T g.32731362C>T DNM1L(NM_001278464.1):c.1246C>T (p.R416C) - DNM1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1246C>T r.(?) p.(Arg416Cys) Unknown - pathogenic g.32884296C>T g.32731362C>T DNM1L(NM_001278464.1):c.1246C>T (p.R416C) - DNM1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308T>A r.(?) p.(Arg436=) Unknown - likely benign g.32884358T>A - DNM1L(NM_001278464.1):c.1308T>A (p.R436=) - YARS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1376G>T r.(?) p.(Cys459Phe) Unknown - likely pathogenic g.32884426G>T g.32731492G>T - - DNM1L_000004 - - - - De novo yes - - 0 - DNA SEQ-NG Blood - EMPF - - - F - Spain - - 0 - - 1 NeuroMeGen
-/. - c.1574T>C r.(?) p.(Ile525Thr) Maternal (confirmed) - benign g.32886737T>C g.32733803T>C - - DNM1L_000017 - - - - Germline - - daniela.verrigni 0 - DNA SEQ-NG-I - - EMPF Pt-mos - - - - Italy - - 0 - - 1 Daniela Verrigni
?/. - c.1574T>C r.(?) p.(Ile525Thr) Unknown - VUS g.32886737T>C - DNM1L(NM_001278464.1):c.1574T>C (p.I525T) - DNM1L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16i c.1707+1G>A r.spl p.? Unknown - VUS g.32891231G>A g.32738297G>A - - DNM1L_000021 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5743 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.1873A>T r.(?) p.(Ile625Phe) Unknown - likely benign g.32893124A>T g.32740190A>T DNM1L(NM_001278464.1):c.1873A>T (p.I625F) - YARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1888C>T r.(?) p.(Pro630Ser) Unknown - VUS g.32893139C>T g.32740205C>T c.1849C>T - DNM1L_000022 - PubMed: Ganapathy 2019 - rs753979883 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5507 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. - c.*6530C>T r.(=) p.(=) Unknown - VUS g.32902874C>T g.32749940C>T - - YARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6531G>A r.(=) p.(=) Unknown - pathogenic g.32902875G>A - YARS2(NM_001040436.2):c.1270C>T (p.R424*) - YARS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*10525C>T r.(=) p.(=) Unknown - likely benign g.32906869C>T - YARS2(NM_001040436.3):c.930G>A (p.P310=) - YARS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*10634_*10637del r.(=) p.(=) Unknown - pathogenic g.32906978_32906981del - - - YARS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11810A>C r.(=) p.(=) Unknown - VUS g.32908154A>C g.32755220A>C - - YARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11893C>A r.(=) p.(=) Unknown - VUS g.32908237C>A - - - YARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11930T>G r.(=) p.(=) Unknown - likely benign g.32908274T>G g.32755340T>G YARS2(NM_001040436.2):c.535A>C (p.K179Q) - YARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*12174G>A r.(=) p.(=) Unknown - benign g.32908518G>A g.32755584G>A - - YARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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