Full data view for gene TYMP

Information The variants shown are described using the NM_001953.4 transcript reference sequence.

323 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     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.*36C>T r.(?) p.(=) Parent #1 - VUS g.50964163G>A g.50525734G>A - - TYMP_000003 - - - - Germline - - - - - DNA SEQ - - MEOAL;MMDS8 - - - - - Germany - - - - - 1 Andreas Laner
+/. _1_10_ c.(?_-135820)_(*35107_?)del r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_50929092)_(51104142_?)del g.(?_50490663)_(50665713_?)del - hg18 Chr.22:g.[49275958_49451008)del TYMP_000075 175-kb deletion spanning 12 genes (LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, c22orf41, CPT1B, CHKB, LOC100144603, MAPKIP2, ARSA); known CNV (0.07) in controls PubMed: Vondrackova 2014 - - Germline - - - - - DNA arrayCGH, SEQ - - ? Pat2 PubMed: Vondrackova 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Czech Republic - - - - - 1 Johan den Dunnen
+/. _1_10_ c.(?_-47776)_(*35107_?)del r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_50929092)_(51016098_?)del g.(?_50490663)_(50577669_?)del - hg18 Chr.22:g.(49275958_49362964)del TYMP_000074 87-kb deletion spanning eight genes (LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, c22orf41, CPT1B), known CNV (0.004) PubMed: Vondrackova 2014 - - Germline - - - - - DNA arrayCGH, SEQ - - ? Pat1 PubMed: Vondrackova 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.-698464_*3781255del r.0? p.0? Unknown - pathogenic g.47182944_51666786del - - - ALG12_000022 mosaicism, hemizygous in 0.56 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-10-36G>T r.spl p.(=) Unknown - likely benign g.50968184C>A g.50529755C>A TYMP(NM_001113755.2):c.-22-24G>T (p.(=)) - TYMP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.? r.? p.? Both (homozygous) - benign g.? g.? T5022C - TYMP_000000 - PubMed: Kocaefe 2003 - - Germline - - - - - DNA SEQ, SEQ-NG - - MTDPS Pat2 PubMed: Kocaefe 2003 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? g.? 522T>A - LARGE_000000 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? g.? 416T>G - LARGE_000000 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 6 c.? r.? p.? Parent #1 - pathogenic (recessive) g.? g.? 1443A>G - LARGE_000000 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - United Kingdom (Great Britain) Anglo-Saxon - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #2 - pathogenic (recessive) g.? g.? 3359C>T - LARGE_000000 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - United Kingdom (Great Britain) Anglo-Saxon - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic (recessive) g.? g.? 1160A>C - LARGE_000000 - PubMed: Halter 2015 - - Germline - - - - - DNA SEQ - - MTDPS Pat3 PubMed: Halter 2015 - F - Italy - - - - haematopoietic stem cell transplantation 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic (recessive) g.? g.? 1167T>C - LARGE_000000 - PubMed: Halter 2015 - - Germline - - - - - DNA SEQ - - MTDPS Pat11 PubMed: Halter 2015 - M - - - - - - haematopoietic stem cell transplantation 1 Johan den Dunnen
+?/. - c.11del r.(?) p.(Leu4Ter) Unknown - likely pathogenic g.50968129del g.50529700del TYMP(NM_001257988.1):c.11del (p.(Leu4Ter)) - TYMP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30G>A r.(?) p.(Gly10=) Unknown - likely benign g.50968109C>T g.50529680C>T TYMP(NM_001113755.2):c.30G>A (p.(Gly10=)) - TYMP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47G>C r.(?) p.(Gly16Ala) Unknown - VUS g.50968092C>G g.50529663C>G TYMP(NM_001113755.2):c.47G>C (p.(Gly16Ala)) - TYMP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.51_52del r.(?) p.(Phe18LeufsTer105) Both (homozygous) - pathogenic (recessive) g.50968087_50968088del g.50529658_50529659del 2bp del, 51_52delCT - TYMP_000077 - PubMed: Nishino 2000, PubMed: Poulton 2009 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat20 PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - Switzerland - - - - - 1 Johan den Dunnen
-?/. - c.61G>C r.(?) p.(Glu21Gln) Unknown - likely benign g.50968078C>G g.50529649C>G TYMP(NM_001113756.2):c.61G>C (p.E21Q) - TYMP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.99dup r.(?) p.(Lys34GlnfsTer90) Both (homozygous) - pathogenic (recessive) g.50968042dup g.50529613dup 100insC - TYMP_000078 - PubMed: Kintarak 2007 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Kintarak 2007 - M - Thailand - - - - - 1 Johan den Dunnen
+/. - c.99dup r.(?) p.(Lys34GlnfsTer90) Both (homozygous) - pathogenic (recessive) g.50968042dup g.50529613dup 100insC - TYMP_000078 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Thailand - - - - - 1 Johan den Dunnen
+/. - c.112G>T r.(?) p.(Glu38Ter) Both (homozygous) - pathogenic (recessive) g.50968027C>A g.50529598C>A - - TYMP_000093 - PubMed: Baris 2010 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Baris 2010 - F - Iraq - - - - - 1 Johan den Dunnen
+/. 6 c.112G>T r.(?) p.(Glu38Ter) Both (homozygous) - pathogenic (recessive) g.50968027C>A g.50529598C>A - - TYMP_000093 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.128A>C r.(?) p.(Lys43Thr) Parent #1 - pathogenic (recessive) g.50968011T>G g.50529582T>G A432C - chr22_003369 - PubMed: Hirano 2004 - - Germline - - - - - DNA SEQ - - MTDPS MN27-01 PubMed: Hirano 2004 - F - - multi-racial - - - - 1 Johan den Dunnen
+/. - c.130C>T r.(?) p.(Arg44Ter) Both (homozygous) - pathogenic (recessive) g.50968009G>A g.50529580G>A - - chr22_003325 - PubMed: Mojtabavi 2021 - - Germline - - - - - DNA SEQ - - MTDPS1 FamPat6 PubMed: Mojtabavi 2021 3-generation family, 1 affected, unaffected parents M yes Iran - - - - - 1 Johan den Dunnen
+/. 2 c.131G>A r.(?) p.(Arg44Gln) Both (homozygous) - pathogenic (recessive) g.50968008C>T g.50529579C>T G435A - TYMP_000066 - PubMed: Gamez 2002 - - Germline yes - - - - DNA SEQ - - MTDPS1 FamPatIII2/4 PubMed: Gamez 2002 3-generation family, 2 affected sister, unaffected heterozygous carrier parents/relatives F - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.131G>A r.(?) p.(Arg44Gln) Both (homozygous) - pathogenic (recessive) g.50968008C>T g.50529579C>T - - TYMP_000066 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.131G>A r.(?) p.(Arg44Gln) Both (homozygous) - pathogenic (recessive) g.50968008C>T g.50529579C>T - - TYMP_000066 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.146T>G r.(?) p.(Leu49Arg) Parent #1 - pathogenic (recessive) g.50967993A>C g.50529564A>C - - chr22_003349 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - - Europe-mixed - - - - 1 Johan den Dunnen
+/. 2 c.162C>G r.(?) p.(Ile54Met) Parent #2 - pathogenic (recessive) g.50967977G>C g.50529548G>C C1912G (I54M) - chr22_003329 - PubMed: Kocaefe 2003 - - Germline - - - - - DNA SEQ, SEQ-NG - - MTDPS Pat4 PubMed: Kocaefe 2003 - M - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.194G>A r.(?) p.(Ser65Asn) Unknown - likely benign g.50967945C>T g.50529516C>T TYMP(NM_001113755.2):c.194G>A (p.(Ser65Asn)) - TYMP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.199C>T r.(?) p.(Gln67Ter) Parent #1 - pathogenic (recessive) g.50967940G>A g.50529511G>A - - TYMP_000095 - PubMed: Scarpelli 2012 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Scarpelli 2012 - M - Italy - - - - - 1 Johan den Dunnen
-/. - c.204C>T r.(?) p.(Gly68=) Unknown - benign g.50967935G>A g.50529506G>A TYMP(NM_001113755.2):c.204C>T (p.(Gly68=)) - TYMP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.214+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.50967924C>A g.50529495C>A - - TYMP_000017 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - MTDPS1 - - - F ? United States - - - - - 1 Kimberly Kripps
-?/. - c.214+13G>A r.(=) p.(=) Unknown - likely benign g.50967912C>T g.50529483C>T TYMP(NM_001113755.2):c.214+13G>A (p.(=)) - TYMP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214+17G>A r.(=) p.(=) Unknown - VUS g.50967908C>T g.50529479C>T TYMP(NM_001113755.2):c.214+17G>A (p.(=)) - TYMP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.215-40G>A r.spl? p.? Parent #2 - pathogenic (recessive) g.50967807C>T g.50529378C>T g635a - chr22_003371 - PubMed: Hirano 2004 - - Germline - - - - - DNA SEQ - - MTDPS MN27-01 PubMed: Hirano 2004 - F - - multi-racial - - - - 1 Johan den Dunnen
+/. 2i_2 c.215-13_215delinsGCGTGA r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.50967767_50967780delinsTCACGC g.50529338_50529351delinsTCACGC - - TYMP_000105 - PubMed: Libernini 2012 - - Germline yes - - - - DNA SEQ - - ? FamPat1/2 PubMed: Libernini 2012 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/ M - Italy - - - - - 2 Johan den Dunnen
+/. - c.215-13_215delinsGCGTGA r.spl p.? Parent #1 - pathogenic (recessive) g.50967767_50967780delinsTCACGC g.50529338_50529351delinsTCACGC 215-14del13ins4 - TYMP_000105 - PubMed: Halter 2015 - - Germline - - - - - DNA SEQ - - MTDPS Pat20 PubMed: Halter 2015 - M - - - - - - haematopoietic stem cell transplantation 1 Johan den Dunnen
+/. - c.215-1G>C r.spl p.? Parent #1 - pathogenic g.50967768C>G g.50529339C>G - - TYMP_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.215-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.50967768C>G g.50529339C>G - - TYMP_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - MTDPS1 - - - M ? United States - - - - - 1 Kimberly Kripps
+/. 2i c.215-1G>C r.184_417del p.Asn63_Val140del Both (homozygous) - pathogenic (recessive) g.50967768C>G g.50529339C>G IVS1-1G>C - TYMP_000001 - PubMed: Szigeti 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 patient PubMed: Szigeti 2004 2-generation family, 1 affected, unaffected parents M - United States white - - - - 1 Johan den Dunnen
+/. 1i c.215-1G>C r.-10-35_417del p.0? Maternal (confirmed) - pathogenic (recessive) g.50967768C>G g.50529339C>G 675G>C (IVS2), NM_001257988.1:r.-45_417del - TYMP_000001 sequence Fig.4 differs from reference (wrong labels nucleotides) PubMed: Ginsberg 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 patient PubMed: Ginsberg 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents/ F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i c.215-1G>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.50967768C>G g.50529339C>G 675G>C - TYMP_000001 - PubMed: Taanman 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MTDPS1 patient PubMed: Taanman 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.215-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.50967768C>G g.50529339C>G - - TYMP_000001 - PubMed: Benureau 2014 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Benureau 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - 1 Johan den Dunnen
+/. - c.215-1G>C r.(?) p.? Parent #1 - pathogenic (recessive) g.50967768C>G g.50529339C>G - - TYMP_000001 - PubMed: Halter 2015 - - Germline - - - - - DNA SEQ - - MTDPS Pat8 PubMed: Halter 2015 - F - - - - - - haematopoietic stem cell transplantation 1 Johan den Dunnen
+/. 2i c.215-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.50967768C>G g.50529339C>G - - TYMP_000001 - PubMed: Cardaioli 2010 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Cardaioli 2010 2-generation family, 1 affected, unaffected parents M yes Italy - - - - - 1 Johan den Dunnen
+/. - c.215-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.50967768C>G g.50529339C>G g675c - TYMP_000001 - PubMed: Hirano 2004 - - Germline - - - - - DNA SEQ - - MTDPS MN32-01 PubMed: Hirano 2004 - M - - - - - - - 1 Johan den Dunnen
+/. - c.215-1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.50967768C>G g.50529339C>G g675c - TYMP_000001 - PubMed: Hirano 2004 - - Germline - - - - - DNA SEQ - - MTDPS MN31-01 PubMed: Hirano 2004 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.217G>A r.(?) p.(Ala73Thr) Both (homozygous) - pathogenic (recessive) g.50967765C>T g.50529336C>T - - TYMP_000101 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Wang 2015 - M - China - - - - - 1 Johan den Dunnen
+/. 3 c.228G>A r.(?) p.(Met76Ile) Parent #1 - pathogenic (recessive) g.50967754C>T g.50529325C>T - - TYMP_000079 - PubMed: Martin 2004 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Martin 2004 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.235C>T r.(?) p.(Arg79Ter) Both (homozygous) ACMG pathogenic g.50967747G>A g.50529318G>A - - TYMP_000026 ACMG PM2, PVS1, PP5, PP4 PubMed: Molaei 2025 SCV006075352 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam101296Pat269 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - 1 Johan den Dunnen
-?/. - c.242G>A r.(?) p.(Arg81Gln) Unknown - likely benign g.50967740C>T g.50529311C>T TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q) - TYMP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242G>A r.(?) p.(Arg81Gln) Unknown - likely benign g.50967740C>T g.50529311C>T TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q) - TYMP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242G>A r.(?) p.(Arg81Gln) Unknown - VUS g.50967740C>T g.50529311C>T - - TYMP_000063 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat43 PubMed: Taylor 2014 - F - United Kingdom (Great Britain) British <01m - - - 1 Johan den Dunnen
+/. - c.261G>C r.(?) p.(Glu87Asp) Parent #1 - pathogenic (recessive) g.50967721C>G g.50529292C>G g.722G>C - chr22_003331 - PubMed: Slama 2005 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Slama 2005 2-generation family, 1 affected, unaffected parents - - France - - - - - 1 Johan den Dunnen
+/. - c.261G>T r.(?) p.(Glu87Asp) Paternal (confirmed) - pathogenic (recessive) g.50967721C>A g.50529292C>A - - TYMP_000076 - PubMed: Vondrackova 2014 - - Germline - - - - - DNA arrayCGH, SEQ - - ? Pat2 PubMed: Vondrackova 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.261G>T r.(?) p.(Glu87Asp) Both (homozygous) - pathogenic (recessive) g.50967721C>A g.50529292C>A - - TYMP_000076 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.261G>T r.(?) p.(Glu87Asp) Both (homozygous) - pathogenic (recessive) g.50967721C>A g.50529292C>A - - TYMP_000076 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.263_264del r.(?) p.(Thr88IlefsTer35) Both (homozygous) - pathogenic (recessive) g.50967718_50967719del g.50529289_50529290del - - chr22_003348 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.275C>A r.(?) p.(Thr92Asn) Both (homozygous) - pathogenic (recessive) g.50967707G>T g.50529278G>T g.2182C>A (T92N) - chr22_003338 - PubMed: Schupbach 2007 - - Germline yes - - - - DNA SEQ - - ? FamPat1 PubMed: Schupbach 2007 2-generation family, 3 affected (3 brothers) - - Switzerland - - - - - 3 Johan den Dunnen
+/. - c.275C>A r.(?) p.(Thr92Asn) Both (homozygous) - pathogenic (recessive) g.50967707G>T g.50529278G>T g.2182C>A (T92N) - chr22_003338 - PubMed: Schupbach 2007 - - Germline yes - - - - DNA SEQ - - ? FamPat2 PubMed: Schupbach 2007 twin brother pair - - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.275C>A r.(?) p.(Thr92Asn) Both (homozygous) - pathogenic (recessive) g.50967707G>T g.50529278G>T g.2182C>A (T92N) - chr22_003338 - PubMed: Schupbach 2007 - - Germline yes - - - - DNA SEQ - - ? FamPat3 PubMed: Schupbach 2007 twin brother - - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.275C>A r.(?) p.(Thr92Asn) Both (homozygous) - pathogenic (recessive) g.50967707G>T g.50529278G>T g.2182C>A - chr22_003338 - PubMed: Halter 2015 - - Germline - - - - - DNA SEQ - - MTDPS Pat7 PubMed: Halter 2015 - M - - - - - - haematopoietic stem cell transplantation 1 Johan den Dunnen
+/. - c.275C>A r.(?) p.(Thr92Asn) Both (homozygous) - pathogenic (recessive) g.50967707G>T g.50529278G>T g.2182C>A - chr22_003338 - PubMed: Halter 2015 - - Germline - - - - - DNA SEQ - - MTDPS Pat9 PubMed: Halter 2015 - M - - - - - - haematopoietic stem cell transplantation 1 Johan den Dunnen
-?/. - c.294G>A r.(?) p.(Ser98=) Unknown - likely benign g.50967688C>T g.50529259C>T TYMP(NM_001113756.2):c.294G>A (p.S98=) - TYMP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.328C>T r.(?) p.(Gln110Ter) Both (homozygous) - pathogenic (recessive) g.50967654G>A g.50529225G>A - - chr22_003342 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.340G>A r.(?) p.(Asp114Asn) Both (homozygous) - pathogenic (recessive) g.50967642C>T g.50529213C>T g.801G>A - chr22_003332 - PubMed: Slama 2005 - - Germline yes - - - - DNA SEQ - - ? Pat5 PubMed: Slama 2005 family, 2 affected - - France - - - - - 2 Johan den Dunnen
+/. - c.340G>A r.(?) p.(Asp114Asn) Parent #2 - pathogenic (recessive) g.50967642C>T g.50529213C>T - - chr22_003332 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - - Europe-mixed - - - - 1 Johan den Dunnen
+?/. - c.342C>G r.(?) p.(Asp114Glu) Both (homozygous) ACMG likely pathogenic g.50967640G>C g.50529211G>C - - TYMP_000025 ACMG PM3_str, PP3, PM2, PM5, PP2, PP5 PubMed: Molaei 2025 SCV006075351 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam209859Pat731 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - 1 Johan den Dunnen
?/. - c.345G>T r.(?) p.(Lys115Asn) Both (homozygous) - VUS g.50967637C>A g.50529208C>A - - chr22_003324 - PubMed: Mojtabavi 2021 - - Germline - - - - - DNA SEQ - - MTDPS1 FamPat5 PubMed: Mojtabavi 2021 3-generation family, 1 affected, unaffected parents F - Iran - - - - - 1 Johan den Dunnen
+?/. - c.355G>A r.(?) p.(Gly119Arg) Parent #1 - likely pathogenic g.50967627C>T g.50529198C>T - - TYMP_000020 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205559 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.355G>A r.(?) p.(Gly119Arg) Both (homozygous) - likely pathogenic (recessive) g.50967627C>T g.50529198C>T NM_001257988.1 - TYMP_000020 - PubMed: Alhammad 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP - PubMed: Alhammad 2024 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.391C>A r.(?) p.(Pro131Thr) Unknown - likely pathogenic g.50967591G>T g.50529162G>T - - TYMP_000023 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.398T>C r.(?) p.(Leu133Pro) Both (homozygous) - pathogenic (recessive) g.50967584A>G g.50529155A>G 2305T>C (Leu133Pro) - TYMP_000082 - PubMed: Monroy 2008 - - Germline yes - - - - DNA SEQ - - ? FamPatV10/15 PubMed: Monroy 2008 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Mexico - - - - - 2 Johan den Dunnen
+/. - c.401C>A r.(?) p.(Ala134Glu) Parent #1 - pathogenic (recessive) g.50967581G>T g.50529152G>T - - TYMP_000072 - PubMed: Patel 2019 - - Germline - - - - - DNA SEQ - - MTDPS patient PubMed: Patel 2019 family, 2 affected sisters F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.401C>A r.? p.(Ala134Glu) Both (homozygous) - pathogenic (recessive) g.50967581G>T g.50529152G>T 3371C>A - TYMP_000072 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - - jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. 6 c.418-1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.50967040C>T g.50528611C>T IVS3-1G>A - chr22_003345 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - England - - - - - 1 Johan den Dunnen
+/. 5 c.418-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.50967040C>T g.50528611C>T IVS3-1G>C - chr22_003345 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - - Europe-mixed - - - - 1 Johan den Dunnen
+/. - c.418-1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.50967040C>G g.50528611C>G IVS3-1G>C - chr22_003363 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Brazil - - - - - 1 Johan den Dunnen
+/. - c.418-1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.50967040C>A g.50528611C>A - - chr22_003365 - PubMed: Halter 2015 - - Germline - - - - - DNA SEQ - - MTDPS Pat13 PubMed: Halter 2015 - F - - - - - - haematopoietic stem cell transplantation 1 Johan den Dunnen
+/. 4 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A (G145R) - chr22_003311 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat3 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Puerto Rico - - - - - 1 Johan den Dunnen
+/. 4 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A (G145R) - chr22_003311 - PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat5 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Israel jew;Iran - - - - 1 Johan den Dunnen
+/. 4 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A (G145R) - chr22_003311 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat6 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Puerto Rico - - - - - 1 Johan den Dunnen
+/. 4 c.433G>A r.(?) p.(Gly145Arg) Unknown - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A (G145R) - chr22_003311 no multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat8 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United States Germany - - - - 1 Johan den Dunnen
+/. 6 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Puerto Rico - - - - - 1 Johan den Dunnen
+/. 6 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Puerto Rico - - - - - 1 Johan den Dunnen
+/. 6 c.433G>A r.(?) p.(Gly145Arg) Parent #1 - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Puerto Rico;Dominican Republic - - - - - 1 Johan den Dunnen
+/. 6 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Mexico - - - - - 1 Johan den Dunnen
+/. 6 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.433G>A r.(?) p.(Gly145Arg) Parent #1 - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Brazil - - - - - 1 Johan den Dunnen
+/. - c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Iran jew - - - - 1 Johan den Dunnen
+/. - c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Iran jew - - - - 1 Johan den Dunnen
+/. - c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Garone 2011 - - Germline - - - - - DNA SEQ - - MTDPS - PubMed: Garone 2011 - - - Iran jew - - - - 1 Johan den Dunnen
+/. 5 c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T - - chr22_003311 - PubMed: Halter 2015 - - Germline - - - - - DNA SEQ - - MTDPS f-1a PubMed: Halter 2015 - M - - - - - - haematopoietic stem cell transplantation 1 Johan den Dunnen
+/. - c.433G>A r.(?) p.(Gly145Arg) Both (homozygous) - pathogenic (recessive) g.50967024C>T g.50528595C>T G1419A - chr22_003311 - PubMed: Hirano 2004 - - Germline - - - - - DNA SEQ - - MTDPS MN24-01 PubMed: Hirano 2004 - M - Iran jew - - - - 1 Johan den Dunnen
?/. - c.437G>A r.(?) p.(Arg146His) Parent #1 - VUS g.50967020C>T g.50528591C>T - - TYMP_000019 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs188802138 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/. - c.451A>C r.(?) p.(Thr151Pro) Maternal (confirmed) - pathogenic (recessive) g.50967006T>G g.50528577T>G - - TYMP_000097 - PubMed: Suh 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? patient PubMed: Suh 2013 3-generation family, 1 affected, unaffected heterozygous carrier parents F no Korea - - - - - 1 Johan den Dunnen
+/. - c.457G>A r.(?) p.(Gly153Ser) Parent #1 - pathogenic g.50967000C>T g.50528571C>T - - TYMP_000002 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 4 c.457G>A r.(?) p.(Gly153Ser) Unknown - pathogenic (recessive) g.50967000C>T g.50528571C>T G1443A (G153S) - TYMP_000002 multiple mtDNA deletions PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat10 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United States Europe - - - - 1 Johan den Dunnen
+/. 4 c.457G>A r.(?) p.(Gly153Ser) Unknown - pathogenic (recessive) g.50967000C>T g.50528571C>T G1443A (G153S) - TYMP_000002 - PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat11 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4 c.457G>A r.(?) p.(Gly153Ser) Both (homozygous) - pathogenic (recessive) g.50967000C>T g.50528571C>T G1443A (G153S) - TYMP_000002 - PubMed: Nishino 1999, PubMed: Nishino 2000 - - Germline - - - - - DNA SEQ - - MTDPS1 Pat12 PubMed: Nishino 1999, PubMed: Nishino 2000 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »


Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.