Full data view for gene GDAP1

A database from the MITOchondrial DYNamics variation portal.
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_018972.2 transcript reference sequence.

159 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     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     
+/. 1 c.27_28del r.(?) p.(Gly10Glufs*15) Unknown - pathogenic g.75262723_75262724del g.74350488_74350489del 27_28delAG - GDAP1_000008 - PubMed: Crimella 2010 - - Germline - - - - - DNA SEQ - - CMT2K ? PubMed: Crimella 2010 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.77T>G r.(?) p.(Leu26Arg) Unknown ACMG likely pathogenic g.75262773T>G g.74350538T>G c.T77G - GDAP1_000089 ACMG: PM1-PM2-PM3-PP1 PubMed: Chen C. 2020 - - Germline - - - - - DNA SEQ-NG-I - WES CMT2K Family 2 II-1 PubMed: Chen 2020 2-generation family, 1 affected, 2 unaffected carriers M - China - >05y - - - 1 Yvet den Hartog
+/. 1 c.92G>A r.(?) p.(Trp31*) Both (homozygous) - pathogenic g.75262788G>A g.74350553G>A - - GDAP1_000054 shared haplotype with family DUK1405 PubMed: Baxter 2002, OMIM:var0001 - rs121908112 Germline yes - - - - DNA SEQ - - CMT4A 11743579-FamDUK1404 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - 1 Johan den Dunnen
+/. 1 c.92G>A r.(?) p.(Trp31*) Both (homozygous) - pathogenic g.75262788G>A g.74350553G>A - - GDAP1_000054 shared haplotype with family DUK1404 PubMed: Baxter 2002, OMIM:var0001 - rs121908112 Germline yes - - - - DNA SEQ - - CMT4A 11743579-FamDUK1405 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - 1 Johan den Dunnen
+/. - c.92G>A r.(?) p.(Trp31Ter) Unknown - pathogenic g.75262788G>A g.74350553G>A GDAP1(NM_018972.2):c.92G>A (p.W31*) - GDAP1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.101C>G r.(?) p.(Ser34Cys) Unknown - pathogenic g.75262797C>G g.74350562C>G - - GDAP1_000004 - PubMed: Crimella 2010 - - Germline - - - - - DNA SEQ - - CMT2K ? PubMed: Crimella 2010 - - - - - - - - - 1 Johan den Dunnen
-/. - c.102= r.(=) p.(Ser34=) Unknown - benign g.75262798G>C g.74350563= GDAP1(NM_018972.2):c.102G>C (p.S34=), GDAP1(NM_018972.4):c.102G>C (p.S34=) - GDAP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102= r.(=) p.(Ser34=) Unknown - benign g.75262798G>C g.74350563= GDAP1(NM_018972.2):c.102G>C (p.S34=), GDAP1(NM_018972.4):c.102G>C (p.S34=) - GDAP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.109T>A r.(?) p.(Ser37Thr) Unknown - VUS g.75262805T>A g.74350570T>A - - GDAP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117+28G>A r.(=) p.(=) Unknown - benign g.75262841G>A - GDAP1(NM_018972.2):c.117+28G>A - GDAP1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.128dup r.(?) p.(Ile44AsnfsTer3) Both (homozygous) - likely pathogenic g.75263519dup g.74351284dup c.128dupT - GDAP1_000081 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-710 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.140del r.(?) p.(Lys47Argfs*3) Unknown ACMG pathogenic (dominant) g.75263531del g.74351296del 140delA - GDAP1_000085 ACMG: PVS1-PM1-PM2, sister not available PubMed: Ferese 2021 SCV001424519 - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CMT2K 1196 PubMed: Ferese 2021 2-generation family, 2 affected M - Italy - >69y - - - 1 Yvet den Hartog
+/. - c.154G>T r.(?) p.(Glu52*) Both (homozygous) - pathogenic g.75263545G>T g.74351310G>T - - GDAP1_000070 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. 2 c.172_173delinsTTA r.(?) p.(Pro59Alafs*4) Unknown - pathogenic g.75263563_75263564delinsTTA g.74351328_74351329delinsTTA 172_173delCTinsTTA - GDAP1_000005 - PubMed: Sevilla 2008 - - Germline - - - - - DNA SEQ - - CMT4A ? PubMed: Sevilla 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.174_176delinsTGTG r.(?) p.(Pro59Valfs*4) Unknown - pathogenic g.75263565_75263567delinsTGTG g.74351330_74351332delinsTGTG 174_176delGCCinsTGTG - GDAP1_000006 - PubMed: Auer-Grumbach 2008 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Auer-Grumbach 2008 - - - - - - - - - 1 Johan den Dunnen
?/. - c.208C>T r.(?) p.(Arg70Cys) Unknown - VUS g.75263599C>T g.74351364C>T - - GDAP1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.218C>G r.(?) p.(Ser73*) Both (homozygous) - pathogenic (recessive) g.75263609C>G g.74351374C>G - - GDAP1_000090 - PubMed: Jiang H 2021 - - Germline - - - - - DNA SEQ - - CMT4A II-2 PubMed: Jiang H 2021 2-generation family, 2 affected, 1 unaffected, 2 unaffected carrier parents F no China Chinese >29y - - - 2 Yvet den Hartog
+/. 2 c.233C>T r.(?) p.(Pro78Leu) Unknown - pathogenic g.75263624C>T g.74351389C>T - - GDAP1_000007 - PubMed: Bouhouche 2007 - - Germline - - - - - DNA SEQ - - CMT4A ? PubMed: Bouhouche 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.233C>T r.(?) p.(Pro78Leu) Unknown - pathogenic g.75263624C>T g.74351389C>T GDAP1(NM_018972.2):c.233C>T (p.P78L) - GDAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.246C>G r.(?) p.(His82Gln) Unknown - likely pathogenic (recessive) g.75263637C>G g.74351402C>G - - GDAP1_000086 - PubMed: Xue H 2021 - - Unknown - - - - - DNA SEQ, SEQ-NG-I - - CMT4A - PubMed: Xue H 2021 2-generation family, 1 affected, unaffected father, unaffected carrier mother M - China Chinese >16y - - - 1 Yvet den Hartog
-?/. - c.246C>T r.(?) p.(His82=) Unknown - likely benign g.75263637C>T g.74351402C>T GDAP1(NM_018972.2):c.246C>T (p.H82=) - GDAP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.288T>G r.(?) p.(Tyr96*) Unknown - likely pathogenic g.75263679T>G - GDAP1(NM_018972.2):c.288T>G (p.Y96*) - GDAP1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.295C>T r.(?) p.(Gln99*) Unknown - pathogenic g.75263686C>T g.74351451C>T - - GDAP1_000009 - PubMed: Moroni 2009 - - Germline - - - - - DNA SEQ - - CMT4A ? PubMed: Moroni 2009 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.310G>A r.(?) p.(Glu104Lys) Both (homozygous) - likely pathogenic g.75263701G>A g.74351466G>A - - GDAP1_000077 proband appears homozygous, asymptomatic heterozygous parent PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-GDAP1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.310G>A r.(?) p.(Glu104Lys) Both (homozygous) - likely pathogenic g.75263701G>A g.74351466G>A - - GDAP1_000077 proband appears homozygous, asymptomatic heterozygous parent PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-GDAP1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.310+6del r.(=) p.(=) Unknown - likely benign g.75263707del g.74351472del GDAP1(NM_018972.2):c.310+6delG - GDAP1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.311-85T>C r.(=) p.(=) Unknown - benign g.75272287T>C - GDAP1(NM_018972.2):c.311-85T>C - GDAP1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.311-23A>G r.(=) p.(=) Both (homozygous) - likely pathogenic (recessive) g.75272349A>G g.74360114A>G - - GDAP1_000091 - PubMed: Khani M 2020 - - Germline - - - - - DNA SEQ-NG-I - WGS CMT2 CMT2-102-II7 PubMed: Khani 2020 3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested F - Iran - >24y - - - 3 Yvet den Hartog
+?/. - c.311-23A>G r.(=) p.(=) Both (homozygous) - likely pathogenic (recessive) g.75272349A>G g.74360114A>G - - GDAP1_000091 - PubMed: Khani M 2020 - - Germline - - - - - DNA SEQ-NG-I - WGS CMT2 CMT2-102-III4 PubMed: Khani 2020 3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested F - Iran - >11y - - - 1 Yvet den Hartog
+?/. - c.311-23A>G r.(=) p.(=) Both (homozygous) - likely pathogenic (recessive) g.75272349A>G g.74360114A>G - - GDAP1_000091 - PubMed: Khani M 2020 - - Germline - - - - - DNA SEQ-NG-I - WGS CMT2 CMT2-102-III6 PubMed: Khani 2020 3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested F - Iran - >05y - - - 1 Yvet den Hartog
+/. - c.311-1G>A r.spl? p.? Unknown - pathogenic g.75272371G>A g.74360136G>A GDAP1(NM_018972.2):c.311-1G>A - GDAP1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.332C>A r.(?) p.(Pro111His) Unknown - pathogenic g.75272393C>A g.74360158C>A - - GDAP1_000010 - PubMed: Chung 2011 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Chung 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.341_344del r.(?) p.(Glu114Alafs*32) Unknown - pathogenic g.75272402_75272405del g.74360167_74360170del 341_344delAAAG - GDAP1_000011 - PubMed: Ammar 2003 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Ammar 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.347T>C r.(?) p.(Met116Thr) Unknown - pathogenic g.75272408T>C g.74360173T>C - - GDAP1_000012 - PubMed: Kabzinska 2006 - - Germline - - - - - DNA SEQ - - CMT4A ? PubMed: Kabzinska 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.347T>C r.(?) p.(Met116Thr) Unknown - pathogenic g.75272408T>C g.74360173T>C GDAP1(NM_018972.2):c.347T>C (p.M116T) - GDAP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.347T>G r.(?) p.(Met116Arg) Unknown - pathogenic g.75272408T>G g.74360173T>G - - GDAP1_000013 - PubMed: Di Maria 2004 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Di Maria 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.347T>G r.(?) p.(Met116Arg) Unknown - pathogenic g.75272408T>G g.74360173T>G GDAP1(NM_018972.2):c.347T>G (p.M116R) - GDAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.349dup r.(?) p.(Tyr117Leufs*13) Unknown - pathogenic g.75272410dup g.74360175dup - - GDAP1_000014 - PubMed: Senderek 2003 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Senderek 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.349dup r.(?) p.(Tyr117LeufsTer13) Unknown - pathogenic g.75272410dup g.74360175dup GDAP1(NM_018972.2):c.349dupT (p.Y117Lfs*13) - GDAP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.358C>T r.(?) p.(Arg120Trp) Unknown - pathogenic g.75272419C>T g.74360184C>T - - GDAP1_000015 - PubMed: Ammar 2003 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Ammar 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.358C>T r.(?) p.(Arg120Trp) Unknown - pathogenic g.75272419C>T g.74360184C>T GDAP1(NM_018972.2):c.358C>T (p.R120W) - GDAP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358C>T r.(?) p.(Arg120Trp) Unknown - VUS g.75272419C>T g.74360184C>T - - GDAP1_000015 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
+/. - c.358C>T r.(?) p.(Arg120Trp) Unknown - pathogenic g.75272419C>T g.74360184C>T - - GDAP1_000015 - PubMed: Antoniadi 2015 - rs104894078 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-GDAP1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.358C>T r.(?) p.(Arg120Trp) Unknown - pathogenic g.75272419C>T g.74360184C>T - - GDAP1_000015 - PubMed: Antoniadi 2015 - rs104894078 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-GDAP1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.358C>T r.(?) p.(Arg120Trp) Unknown - pathogenic g.75272419C>T - GDAP1(NM_018972.2):c.358C>T (p.R120W) - GDAP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.358C>T r.(?) p.(Arg120Trp) Parent #1 - pathogenic g.75272419C>T g.74360184C>T - - GDAP1_000015 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3459 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.358C>T r.(?) p.(Arg120Trp) Unknown ACMG VUS g.75272419C>T g.74360184C>T c.C358T - GDAP1_000015 Daughter carried the same variant, but had no symptoms PubMed: Chen C. 2020 - - Unknown - - - - - DNA SEQ-NG-I - WES CMT2K Family 3 II-2 PubMed: Chen 2020 3-generation family, 1 affected, 1 unaffected carrier, 1 unaffected, 2 untested F - China - >73y - - - 1 Yvet den Hartog
+/. 3 c.359G>A r.(?) p.(Arg120Gln) Unknown - pathogenic g.75272420G>A g.74360185G>A - - GDAP1_000016 - PubMed: Boerkoel 2003 - - Germline - - - - - DNA SEQ - - CMT4A ? PubMed: Boerkoel 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.359G>A r.(?) p.(Arg120Gln) Unknown - pathogenic g.75272420G>A g.74360185G>A GDAP1(NM_018972.2):c.359G>A (p.R120Q) - GDAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.364C>A r.(?) p.(Gln122Lys) Unknown - pathogenic g.75272425C>A g.74360190C>A - - GDAP1_000017 - PubMed: Moroni 2009 - - Germline - - - - - DNA SEQ - - CMT4A ? PubMed: Moroni 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.368A>G r.(?) p.(His123Arg) Unknown - pathogenic g.75272429A>G g.74360194A>G - - GDAP1_000018 - PubMed: Zimon 2011 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Zimon 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.368A>G r.(?) p.(His123Arg) Unknown - pathogenic (dominant) g.75272429A>G g.74360194A>G - - GDAP1_000018 clinical severity variable PubMed: Antoniadi 2015 - rs397515442 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-GDAP1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.368A>G r.(?) p.(His123Arg) Unknown - pathogenic (dominant) g.75272429A>G g.74360194A>G - - GDAP1_000018 clinical severity variable PubMed: Antoniadi 2015 - rs397515442 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-GDAP1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.371A>G r.(?) p.(Tyr124Cys) Unknown - VUS g.75272432A>G g.74360197A>G - - GDAP1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.373C>T r.(?) p.(Arg125*) Unknown - pathogenic g.75272434C>T g.74360199C>T - - GDAP1_000019 - PubMed: Moroni 2009 - - Germline - - - - - DNA SEQ - - CMT4A ? PubMed: Moroni 2009 - - - - - - - - - 1 Johan den Dunnen
+/. - c.373C>T r.(?) p.(Arg125*) Parent #1 - pathogenic g.75272434C>T g.74360199C>T - - GDAP1_000019 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs745663149 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.385G>A r.(?) p.(Asp129Asn) Unknown - VUS g.75272446G>A - GDAP1(NM_018972.2):c.385G>A (p.D129N) - GDAP1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.389C>G r.(?) p.(Ser130Cys) Unknown - pathogenic g.75272450C>G g.74360215C>G - - GDAP1_000020 - PubMed: Kabzinska 2005 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Kabzinska 2005 - - - - - - - - - 1 Johan den Dunnen
+/. - c.389C>G r.(?) p.(Ser130Cys) Unknown - pathogenic g.75272450C>G g.74360215C>G GDAP1(NM_018972.2):c.389C>G (p.S130C) - GDAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.399G>A r.(?) p.(Met133Ile) Unknown - likely pathogenic g.75272460G>A g.74360225G>A - - GDAP1_000078 - PubMed: Antoniadi 2015 - rs139808557 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 3 c.407A>C r.(?) p.(Tyr136Ser) Both (homozygous) - pathogenic (recessive) g.75272468A>C - g.44104A>C - GDAP1_000095 - - - - Germline yes - - - - DNA SEQ blood - CMT2 - - - F yes Egypt - - - - - 2 Sherifa Ahmed Hamed
+/. 3 c.407A>C r.(?) p.(Tyr136Ser) Both (homozygous) - pathogenic (recessive) g.75272468A>C - - - GDAP1_000095 - - - - Germline yes - - - - DNA SEQ blood - CMT2 - - - M yes Egypt - - - - - 1 Sherifa Ahmed Hamed
+/. 3 c.439del r.(?) p.(Thr147Leufs*5) Unknown - pathogenic g.75272500del g.74360265del - - GDAP1_000021 - PubMed: Georgiou 2006 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Georgiou 2006 - - - - - - - - - 1 Johan den Dunnen
?/. - c.442G>A r.(?) p.(Val148Met) Unknown - VUS g.75272503G>A - GDAP1(NM_018972.2):c.442G>A (p.(Val148Met)) - GDAP1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.445G>T r.(?) p.(Asp149Tyr) Unknown - pathogenic g.75272506G>T g.74360271G>T - - GDAP1_000022 - PubMed: Parman 2004 - - Germline - - - - - DNA SEQ - - ? ? PubMed: Parman 2004 - - - - - - - - - 1 Johan den Dunnen
+/. - c.445G>T r.(?) p.(Asp149Tyr) Unknown - pathogenic g.75272506G>T g.74360271G>T GDAP1(NM_018972.2):c.445G>T (p.D149Y) - GDAP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.458C>T r.(?) p.(Pro153Leu) Unknown - pathogenic g.75272519C>T g.74360284C>T - - GDAP1_000023 - PubMed: Kabzinska 2007 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Kabzinska 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.458C>T r.(?) p.(Pro153Leu) Unknown - pathogenic g.75272519C>T g.74360284C>T GDAP1(NM_018972.2):c.458C>T (p.P153L) - GDAP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.467C>G r.(?) p.(Ala156Gly) Unknown - pathogenic g.75272528C>G g.74360293C>G - - GDAP1_000024 - PubMed: Zimon 2011 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Zimon 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.469A>C r.(?) p.(Thr157Pro) Unknown - pathogenic g.75272530A>C g.74360295A>C - - GDAP1_000025 - PubMed: Claramunt 2005 - - Germline - - - - - DNA SEQ - - CMT4A ? PubMed: Claramunt 2005 - - - - - - - - - 1 Johan den Dunnen
+/. - c.469A>C r.(?) p.(Thr157Pro) Unknown - pathogenic g.75272530A>C g.74360295A>C GDAP1(NM_018972.2):c.469A>C (p.T157P) - GDAP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469A>C r.(?) p.(Thr157Pro) Unknown - VUS g.75272530A>C g.74360295A>C - - GDAP1_000025 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
?/. - c.477G>T r.(?) p.(Arg159Ser) Unknown - VUS g.75272538G>T g.74360303G>T - - GDAP1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.482G>A r.(?) p.(Arg161His) Both (homozygous) - pathogenic g.75272543G>A g.74360308G>A - - GDAP1_000026 - PubMed: Baxter 2002, OMIM:var0003 - rs104894076 Germline yes - - - - DNA SEQ - - CMT4A 11743579-FamDUK1403 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - 1 Johan den Dunnen
+/. - c.482G>A r.(?) p.(Arg161His) Unknown - pathogenic g.75272543G>A g.74360308G>A GDAP1(NM_018972.2):c.482G>A (p.R161H) - GDAP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.485-20C>G r.(=) p.(=) Unknown - benign g.75274099C>G g.74361864C>G GDAP1(NM_018972.2):c.485-20C>G - GDAP1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.485-2A>G r.spl? p.? Unknown - pathogenic g.75274117A>G g.74361882A>G GDAP1(NM_018972.2):c.485-2A>G - GDAP1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.487C>T r.(?) p.(Gln163*) Both (homozygous) - pathogenic g.75274121C>T g.74361886C>T - - GDAP1_000027 - PubMed: Cuesta 2002, OMIM:var0004 - rs104894077 Germline yes - - - - DNA SEQ - - Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 11743580-FamLF38 PubMed: Cuesta 2002 5-generation family, 9 affecteds (3F, 6M), unaffected heterozygous carrier parents F;M yes Spain - - - - - 9 Johan den Dunnen
+/. 4 c.487C>T r.(?) p.(Gln163*) Parent #2 - pathogenic g.75274121C>T g.74361886C>T - - GDAP1_000027 - PubMed: Cuesta 2002, OMIM:var0004 - rs104894077 Germline - - - - - DNA SEQ - - Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 11743580-FamLF20 PubMed: Cuesta 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - 1 Johan den Dunnen
+/. 4 c.487C>T r.(?) p.(Gln163*) Parent #2 - pathogenic g.75274121C>T g.74361886C>T - - GDAP1_000027 - PubMed: Cuesta 2002, OMIM:var0004 - rs104894077 Germline - - - - - DNA SEQ - - Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 11743580-FamLF249 PubMed: Cuesta 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - no Spain - - - - - 1 Johan den Dunnen
+/. - c.487C>T r.(?) p.(Gln163Ter) Unknown - pathogenic g.75274121C>T g.74361886C>T GDAP1(NM_018972.2):c.487C>T (p.Q163*) - GDAP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.487C>T r.(?) p.(Gln163Ter) Unknown - pathogenic g.75274121C>T g.74361886C>T GDAP1(NM_018972.2):c.487C>T (p.Q163*) - GDAP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487C>T r.(?) p.(Gln163*) Unknown - VUS g.75274121C>T g.74361886C>T - - GDAP1_000027 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
+/. - c.487C>T r.(?) p.(Gln163*) Paternal (confirmed) ACMG pathogenic (recessive) g.75274121C>T g.74361886C>T - - GDAP1_000027 father/brother unaffected carriers PubMed: Fierro 2020 - - Germline - - - - - DNA SEQ-NG-I - WES CMT2 FamPatII7 PubMed: Fierro 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Mexico - >10y - - - 1 Yvet den Hartog
+?/. - c.501dup r.(?) p.(Glu168Argfs*3) Unknown - likely pathogenic g.75274135dup g.74361900dup c.501dupA - GDAP1_000079 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat16 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.506_512del r.(?) p.(Ser169*) Unknown ACMG pathogenic g.75274140_75274146del g.74361905_74361911del c.505_511del - GDAP1_000092 ACMG: PVS1-PM1-PM2-PP1-PP3 PubMed: Chen C. 2020 - - Germline - - - - - DNA SEQ-NG-I - WES CMT2K Family 2 II-1 PubMed: Chen 2020 2-generation family, 1 affected, 2 unaffected carriers M - China - >05y - - - 1 Yvet den Hartog
-/. - c.507T>G r.(?) p.(Ser169=) Unknown - benign g.75274141T>G g.74361906T>G GDAP1(NM_018972.2):c.507T>G (p.S169=), GDAP1(NM_018972.4):c.507T>G (p.S169=) - GDAP1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.507T>G r.(?) p.(Ser169=) Unknown - benign g.75274141T>G g.74361906T>G GDAP1(NM_018972.2):c.507T>G (p.S169=), GDAP1(NM_018972.4):c.507T>G (p.S169=) - GDAP1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.533A>G r.(?) p.(Asn178Ser) Unknown - pathogenic g.75274167A>G g.74361932A>G - - GDAP1_000028 - PubMed: Zhang 2004 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Zhang 2004 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.558del r.(?) p.(Ile186Metfs*20) Unknown - pathogenic g.75274192del g.74361957del - - GDAP1_000029 - PubMed: Stojkovic 2004 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Stojkovic 2004 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.571C>T r.(?) p.(Arg191*) Unknown - pathogenic g.75274205C>T g.74361970C>T - - GDAP1_000030 - PubMed: Barankova 2007 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Barankova 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.571C>T r.(?) p.(Arg191Ter) Unknown - pathogenic g.75274205C>T g.74361970C>T GDAP1(NM_018972.2):c.571C>T (p.R191*) - GDAP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.579+1G>A r.spl? p.? Unknown - pathogenic g.75274214G>A g.74361979G>A GDAP1(NM_018972.2):c.579+1G>A - GDAP1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.579+1G>A r.spl? p.? Parent #1 - pathogenic g.75274214G>A g.74361979G>A - - GDAP1_000067 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.579+1G>A r.spl? p.? Unknown - pathogenic g.75274214G>A - GDAP1(NM_018972.2):c.579+1G>A - GDAP1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.581C>G r.(?) p.(Ser194*) Both (homozygous) - pathogenic g.75275175C>G g.74362940C>G - - GDAP1_000031 - PubMed: Baxter 2002, OMIM:var0002 - rs104894075 Germline yes - - - - DNA SEQ - - CMT4A 11743579-FamDUK1402 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - 1 Johan den Dunnen
+/. 5 c.581C>G r.(?) p.(Ser194*) Parent #1 - pathogenic g.75275175C>G g.74362940C>G - - GDAP1_000031 - PubMed: Cuesta 2002, OMIM:var0002 - rs104894075 Germline - - - - - DNA SEQ - - Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 11743580-FamLF249 PubMed: Cuesta 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - no Spain - - - - - 1 Johan den Dunnen
+/. 5 c.581C>G r.(?) p.(Ser194*) Both (homozygous) - pathogenic g.75275175C>G g.74362940C>G - - GDAP1_000031 - PubMed: Nelis 2002, OMIM:var0002 - - Germline yes - - - - DNA SEQ - - CMT4A 12499475-FamPN860 PubMed: Nelis 2002 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Morocco - - - - - 2 Johan den Dunnen
+/. - c.581C>G r.(?) p.(Ser194Ter) Unknown - pathogenic g.75275175C>G g.74362940C>G GDAP1(NM_018972.2):c.581C>G (p.S194*) - GDAP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.581C>G r.(?) p.(Ser194*) Unknown - VUS g.75275175C>G g.74362940C>G - - GDAP1_000031 - - - - Germline - - - - - DNA SEQ Blood - CMT2 ? - - - - Spain - - - - - 1 Carmen Espinós
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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